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 HAS2 3037 broad.mit.edu 37 8 122626563 122626563 + Missense_Mutation SNP G G A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr8:122626563G>A ENST00000303924.4 - 4 1982 c.1445C>T c.(1444-1446)tCa>tTa p.S482L NM_005328.2 NP_005319.1 Q92819 HAS2_HUMAN hyaluronan synthase 2 482 integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1) 38 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) AAACCAAACTGATACTGGAAT 0.403000 11 98 0 0 0.001368 0 0 COL14A1 7373 broad.mit.edu 37 8 121267561 121267561 + Silent SNP C C A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr8:121267561C>A ENST00000297848.3 + 23 3105 c.2835C>A c.(2833-2835)gcC>gcA p.A945A COL14A1_ENST00000247781.3_Silent_p.A850A|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Silent_p.A945A NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 945 Fibronectin type-III 8. 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) ATCGCCATGCCACAGCCTATA 0.443000 5 95 0.000602214 0.00103512 0.000602 1 0 SLC35B4 84912 broad.mit.edu 37 7 133984945 133984945 + Nonsense_Mutation SNP T T A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr7:133984945T>A ENST00000378509.4 - 7 855 c.556A>T c.(556-558)Aaa>Taa p.K186* NM_032826.4 NP_116215.1 Q969S0 S35B4_HUMAN solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4 186 Golgi membrane|integral to membrane UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity large_intestine(1)|lung(2)|skin(1)|stomach(1) 5 CCAAATCGTTTGTAGAGAGTC 0.393000 15 70 0 0 0.000743 0 0 GBP2 2634 broad.mit.edu 37 1 89587488 89587488 + Silent SNP C C G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr1:89587488C>G ENST00000370466.3 - 2 430 c.162G>C c.(160-162)ctG>ctC p.L54L NM_004120.3 NP_004111.2 P32456 GBP2_HUMAN guanylate binding protein 2, interferon-inducible 54 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway plasma membrane GTP binding|GTPase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1) 20 Lung NSC(277;0.0908) all cancers(265;0.0151)|Epithelial(280;0.0284) GCTTGTTCATCAGGTAGGATT 0.527000 4 96 0 0 0.000248 0 0 MS4A6A 64231 broad.mit.edu 37 11 59949102 59949102 + Silent SNP C C A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr11:59949102C>A ENST00000528851.1 - 2 239 c.99G>T c.(97-99)ggG>ggT p.G33G MS4A6A_ENST00000420732.2_Silent_p.G33G|MS4A6A_ENST00000529054.1_Silent_p.G61G|MS4A6A_ENST00000530839.1_Silent_p.G33G|MS4A6A_ENST00000532169.1_Silent_p.G33G|MS4A6A_ENST00000426738.2_Silent_p.G33G|MS4A6A_ENST00000412309.2_Silent_p.G61G|MS4A6A_ENST00000323961.3_Silent_p.G33G|MS4A6A_ENST00000533023.1_Silent_p.G33G Q9H2W1 M4A6A_HUMAN membrane-spanning 4-domains, subfamily A, member 6A 33 integral to membrane receptor activity endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GGCTATCCTGCCCCTGGTTGG 0.473000 9 110 2.52707e-12 5.59896e-12 0.000443 1 0 ST7L 54879 broad.mit.edu 37 1 113098567 113098567 + Missense_Mutation SNP G G C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr1:113098567G>C ENST00000358039.4 - 12 1623 c.1319C>G c.(1318-1320)gCc>gGc p.A440G ST7L_ENST00000343210.7_Missense_Mutation_p.A440G|ST7L_ENST00000369669.1_Missense_Mutation_p.A257G|ST7L_ENST00000544629.1_Missense_Mutation_p.A375G|ST7L_ENST00000543570.1_Intron|ST7L_ENST00000538187.1_Missense_Mutation_p.A384G|ST7L_ENST00000490067.1_Missense_Mutation_p.A423G|ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000369666.1_Missense_Mutation_p.A423G|ST7L_ENST00000369668.2_Missense_Mutation_p.A440G|ST7L_ENST00000360743.4_Missense_Mutation_p.A440G NM_017744.4|NM_138727.3 NP_060214.2|NP_620055.1 Q8TDW4 ST7L_HUMAN suppression of tumorigenicity 7 like 440 negative regulation of cell growth integral to membrane binding endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3) 15 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GAAAGCATAGGCAATTGCTTC 0.363000 6 47 0 0 0.001984 0 0 LEPR 3953 broad.mit.edu 37 1 66067104 66067104 + Missense_Mutation SNP A A G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr1:66067104A>G ENST00000349533.6 + 9 1209 c.1024A>G c.(1024-1026)Aca>Gca p.T342A LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.T342A|LEPR_ENST00000344610.8_Missense_Mutation_p.T342A|LEPR_ENST00000371059.3_Missense_Mutation_p.T342A|LEPR_ENST00000371060.3_Missense_Mutation_p.T342A NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 342 Ig-like. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) TAAAATTCTGACAAGTGTTGG 0.343000 5 47 0 0 0.001168 0 0 ISM2 145501 broad.mit.edu 37 14 77942010 77942010 + Silent SNP G G A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr14:77942010G>A ENST00000393684.3 - 8 1771 c.1380C>T c.(1378-1380)aaC>aaT p.N460N ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000429906.1_Silent_p.N467N|ISM2_ENST00000412904.1_Silent_p.N467N|ISM2_ENST00000342219.4_Silent_p.N548N Q6H9L7 ISM2_HUMAN isthmin 2 548 AMOP. extracellular region p.N548N(1) endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1) 21 AGGCTCGGCCGTTGTTGGGAG 0.612000 5 63 0 0 0.001168 0 0 DISP1 84976 broad.mit.edu 37 1 223178684 223178684 + Silent SNP G G A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr1:223178684G>A ENST00000284476.6 + 8 4109 c.3945G>A c.(3943-3945)ctG>ctA p.L1315L NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) 1315 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) TGGCACCTCTGAAGGCCACAC 0.592000 20 80 0 0 0.001216 0 0 OR56A1 120796 broad.mit.edu 37 11 6048350 6048350 + Silent SNP G G A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr11:6048350G>A ENST00000316650.5 - 1 621 c.585C>T c.(583-585)tcC>tcT p.S195S NM_001001917.2 NP_001001917.2 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, member 1 195 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2) 33 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AATTATCACAGGAGAGCCTGG 0.458000 6 58 0 0 0.001984 0 0 CLK2 1196 broad.mit.edu 37 1 155238556 155238556 + Missense_Mutation SNP C C G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr1:155238556C>G ENST00000368361.4 - 4 745 c.430G>C c.(430-432)Gag>Cag p.E144Q CLK2_ENST00000355560.4_Missense_Mutation_p.E142Q|CLK2_ENST00000536801.1_Missense_Mutation_p.E144Q|CLK2_ENST00000361168.5_Missense_Mutation_p.E143Q|CLK2_ENST00000497188.1_5'UTR P49760 CLK2_HUMAN CDC-like kinase 2 144 nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 22 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GCGTCGTCCTCTACACTCTTG 0.637000 Other conserved DNA damage response genes 12 92 0 0 0.001855 0 0 FAM63A 55793 broad.mit.edu 37 1 150974245 150974245 + Missense_Mutation SNP G G A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr1:150974245G>A ENST00000361936.5 - 4 1421 c.467C>T c.(466-468)cCg>cTg p.P156L FAM63A_ENST00000361738.6_Missense_Mutation_p.P204L|FAM63A_ENST00000312210.5_Missense_Mutation_p.P14L|FAM63A_ENST00000470877.1_5'UTR|FAM63A_ENST00000493834.2_Missense_Mutation_p.P61L NM_018379.4 NP_060849.2 Q8N5J2 FA63A_HUMAN family with sequence similarity 63, member A 156 protein binding breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TTCCTTCTGCGGGGGGAGCTT 0.562000 14 45 0 0 0.002450 0 0 URGCP 55665 broad.mit.edu 37 7 43917438 43917438 + Missense_Mutation SNP G G A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr7:43917438G>A ENST00000336086.6 - 4 3731 c.1495C>T c.(1495-1497)Cat>Tat p.H499Y RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000223341.7_Missense_Mutation_p.H499Y|URGCP_ENST00000443736.1_Missense_Mutation_p.H499Y|URGCP_ENST00000453200.1_Missense_Mutation_p.H542Y|URGCP_ENST00000402306.3_Missense_Mutation_p.H533Y|URGCP_ENST00000447717.3_Missense_Mutation_p.H499Y|URGCP_ENST00000497914.1_5'UTR Q8TCY9 URGCP_HUMAN upregulator of cell proliferation 542 cell cycle centrosome|nucleus GTP binding breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GAGGGATCATGGCCGTTCTGC 0.627000 4 45 0 0 0.000248 0 0 CNOT1 23019 broad.mit.edu 37 16 58620566 58620566 + Missense_Mutation SNP G G C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr16:58620566G>C ENST00000317147.5 - 7 852 c.520C>G c.(520-522)Caa>Gaa p.Q174E CNOT1_ENST00000441024.2_Missense_Mutation_p.Q174E|CNOT1_ENST00000569240.1_Missense_Mutation_p.Q174E NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 174 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) GCTATATCTTGGAAGCCACCT 0.473000 4 297 0 0 0.000602 0 0 ZNF710 374655 broad.mit.edu 37 15 90611352 90611352 + Missense_Mutation SNP G G T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr15:90611352G>T ENST00000268154.4 + 2 1234 c.983G>T c.(982-984)tGc>tTc p.C328F NM_198526.2 NP_940928.2 Q8N1W2 ZN710_HUMAN zinc finger protein 710 328 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 19 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129) TGCCCACACTGCAGCAAGCTC 0.622000 6 50 3.59834e-05 6.58332e-05 0.001168 1 0 GRM7 2917 broad.mit.edu 37 3 7620456 7620456 + Silent SNP C C T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr3:7620456C>T ENST00000486284.1 + 8 2137 c.1863C>T c.(1861-1863)gtC>gtT p.V621V GRM7_ENST00000389336.4_Silent_p.V621V|GRM7_ENST00000403881.1_Silent_p.V621V|GRM7_ENST00000357716.4_Silent_p.V621V|GRM7_ENST00000402647.2_Silent_p.V621V|GRM7_ENST00000458641.2_3'UTR NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 621 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) CGCCCATTGTCCGGGCATCTG 0.512000 22 96 0 0 0.001882 0 0 EIF3A 8661 broad.mit.edu 37 10 120797844 120797844 + Missense_Mutation SNP C C A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr10:120797844C>A ENST00000369144.3 - 20 3761 c.3634G>T c.(3634-3636)Gat>Tat p.D1212Y EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Missense_Mutation_p.D1178Y NM_003750.2 NP_003741.1 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, subunit A 1212 Asp-rich. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3) 56 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) tcttgattatctctgtccctt 0.493000 23 109 3.8784e-16 8.63258e-16 0.001882 1 0 OR2L13 284521 broad.mit.edu 37 1 248263597 248263597 + Missense_Mutation SNP T T C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr1:248263597T>C ENST00000366478.2 + 3 1257 c.920T>C c.(919-921)tTc>tCc p.F307S OR2L13_ENST00000358120.2_Missense_Mutation_p.F307S NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) TTTGGGATATTCTCTTTCCTG 0.458000 3 40 0 0 0.000248 0 0 SLA 6503 broad.mit.edu 37 8 134050875 134050875 + Missense_Mutation SNP T T A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr8:134050875T>A ENST00000338087.5 - 9 1544 c.725A>T c.(724-726)gAg>gTg p.E242V SLA_ENST00000395352.3_Missense_Mutation_p.E259V|SLA_ENST00000427060.2_Missense_Mutation_p.E282V|TG_ENST00000519543.1_Intron|TG_ENST00000220616.4_Intron|TG_ENST00000542445.1_Intron|SLA_ENST00000524345.1_Missense_Mutation_p.E134V|TG_ENST00000377869.1_Intron|SLA_ENST00000517648.1_Missense_Mutation_p.E215V NM_001045556.2 NP_001039021.1 Q13239 SLAP1_HUMAN Src-like-adaptor 242 SLA C-terminal. endosome SH3/SH2 adaptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1) 17 all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037) BRCA - Breast invasive adenocarcinoma(115;0.000701) GGTGTTGTCCTCACTGGTCAG 0.512000 16 69 0 0 0.003163 0 0 GPATCH1 55094 broad.mit.edu 37 19 33588673 33588673 + Missense_Mutation SNP G G C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr19:33588673G>C ENST00000170564.2 + 8 1179 c.865G>C c.(865-867)Ggt>Cgt p.G289R NM_018025.2 NP_060495.2 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 289 catalytic step 2 spliceosome nucleic acid binding breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4) 40 Esophageal squamous(110;0.137) TTTTGGTGTAGGTGCCCTGGA 0.443000 19 107 0 0 0.000958 0 0 NBPF1 55672 broad.mit.edu 37 1 16918399 16918399 + Missense_Mutation SNP C C G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr1:16918399C>G ENST00000430580.2 - 7 1005 c.118G>C c.(118-120)Gag>Cag p.E40Q NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 40 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) AAACATTTCTCTTTGAGGTTT 0.458000 18 1121 0 0 0.002450 0 0 NDST3 9348 broad.mit.edu 37 4 119064762 119064762 + Missense_Mutation SNP G G C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr4:119064762G>C ENST00000296499.5 + 6 1865 c.1462G>C c.(1462-1464)Gaa>Caa p.E488Q NDST3_ENST00000433996.2_Missense_Mutation_p.E407Q NM_004784.2 NP_004775.1 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 488 Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 TTTCTACAAAGAATATCCAGG 0.388000 3 44 0 0 0.000248 0 0 PCDHA5 56143 broad.mit.edu 37 5 140201934 140201934 + Nonsense_Mutation SNP G G T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr5:140201934G>T ENST00000529859.1 + 1 574 c.574G>T c.(574-576)Gag>Tag p.E192* PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Nonsense_Mutation_p.E192*|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000378126.3_Nonsense_Mutation_p.E192*|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAACTTTTTAGAGCTGGTTTT 0.348000 8 49 0.000274275 0.000481727 0.004482 1 0 JMY 133746 broad.mit.edu 37 5 78573820 78573820 + Missense_Mutation SNP G G A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr5:78573820G>A ENST00000396137.4 + 2 1582 c.1120G>A c.(1120-1122)Gaa>Aaa p.E374K NM_152405.4 NP_689618.4 Q8N9B5 JMY_HUMAN junction mediating and regulatory protein, p53 cofactor 374 'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter cell leading edge|cytoplasm|cytoskeleton|nucleus actin binding|transcription coactivator activity endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1) 16 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35) CAGCCTTGCAGAAGCTACAAC 0.438000 12 69 0 0 0.001855 0 0 KCNG3 170850 broad.mit.edu 37 2 42671645 42671645 + Missense_Mutation SNP C C G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr2:42671645C>G ENST00000306078.1 - 2 1335 c.740G>C c.(739-741)tGt>tCt p.C247S KCNG3_ENST00000394973.4_Missense_Mutation_p.C236S NM_133329.5|NM_172344.2 NP_579875.1|NP_758847.1 Q8TAE7 KCNG3_HUMAN potassium voltage-gated channel, subfamily G, member 3 247 endoplasmic reticulum|voltage-gated potassium channel complex protein binding central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2) 6 GACAAACTCACACTTGTTTTT 0.423000 4 68 0 0 0.000248 0 0 OR5L1 219437 broad.mit.edu 37 11 55578976 55578976 + Missense_Mutation SNP T T G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr11:55578976T>G ENST00000333973.2 + 1 123 c.34T>G c.(34-36)Ttc>Gtc p.F12V NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 12 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) TGTGGCTGAGTTCATTCTCCT 0.418000 10 185 0 0 0.001368 0 0 OR52R1 119695 broad.mit.edu 37 11 4824894 4824894 + Missense_Mutation SNP T T G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr11:4824894T>G ENST00000380382.1 - 1 953 c.954A>C c.(952-954)aaA>aaC p.K318N MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.K239N|MMP26_ENST00000380390.1_Intron Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, member 1 239 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) TGCTAAAAGCTTTGAGGCGGG 0.483000 3 45 0 0 0.004672 0 0 RASA4B 100271927 broad.mit.edu 37 7 102136619 102136619 + Silent SNP G G A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr7:102136619G>A ENST00000481893.1 - 16 1947 c.823C>T c.(823-825)Ctg>Ttg p.L275L RASA4B_ENST00000541662.1_Silent_p.L347L|RASA4B_ENST00000306682.6_Silent_p.L275L|RASA4B_ENST00000465829.1_Silent_p.L347L RAS p21 protein activator 4B skin(1) 1 TTTGAGGCCAGAGAGTTGCTC 0.537000 10 220 0 0 0.001368 0 0 LY9 4063 broad.mit.edu 37 1 160771687 160771687 + Missense_Mutation SNP G G A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr1:160771687G>A ENST00000368039.2 + 3 563 c.562G>A c.(562-564)Gtg>Atg p.V188M LY9_ENST00000368041.2_Intron|LY9_ENST00000368040.1_Intron|LY9_ENST00000341032.4_Intron|LY9_ENST00000263285.5_Intron|LY9_ENST00000471816.1_Intron NM_001033667.2 NP_001028839.1 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 0 Ig-like C2-type 1. cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TGAGCCACGTGTGAGCGTGCG 0.667000 7 101 0 0 0.001984 0 0 SLC39A1 27173 broad.mit.edu 37 1 153932779 153932779 + Missense_Mutation SNP C C T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr1:153932779C>T ENST00000368623.3 - 3 1529 c.770G>A c.(769-771)gGt>gAt p.G257D SLC39A1_ENST00000310483.6_Missense_Mutation_p.G257D|SLC39A1_ENST00000368621.1_Missense_Mutation_p.G257D|SLC39A1_ENST00000537590.1_Missense_Mutation_p.G155D|SLC39A1_ENST00000356205.4_Missense_Mutation_p.G257D Q9NY26 S39A1_HUMAN solute carrier family 39 (zinc transporter), member 1 257 endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane zinc ion transmembrane transporter activity kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1) 12 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Colorectal(1306;0.019) CAGAGCTGCACCCAGCCCGAT 0.602000 15 42 0 0 0.002450 0 0 DACH2 117154 broad.mit.edu 37 X 85769388 85769388 + Missense_Mutation SNP C C A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chrX:85769388C>A ENST00000373131.1 + 2 758 c.595C>A c.(595-597)Ccg>Acg p.P199T DACH2_ENST00000510272.1_5'UTR|DACH2_ENST00000373125.4_Missense_Mutation_p.P212T|DACH2_ENST00000508860.1_Missense_Mutation_p.P45T NM_001139514.1 NP_001132986.1 Q96NX9 DACH2_HUMAN dachshund homolog 2 (Drosophila) 212 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 ACTTATCACTCCGACAGGTAA 0.498000 4 11 1.23904e-05 2.3196e-05 0.000602 1 0 ZNF157 7712 broad.mit.edu 37 X 47269685 47269685 + Missense_Mutation SNP C C T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chrX:47269685C>T ENST00000377073.3 + 2 169 c.83C>T c.(82-84)tCa>tTa p.S28L NM_003446.3 NP_003437.2 P51786 ZN157_HUMAN zinc finger protein 157 28 KRAB. negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 GGGTCCGTGTCATTCGAGGAT 0.493000 15 60 0 0 0.003163 0 0 DNAH9 1770 broad.mit.edu 37 17 11592889 11592889 + Silent SNP T T C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr17:11592889T>C ENST00000262442.3 + 20 3818 c.3750T>C c.(3748-3750)gaT>gaC p.D1250D DNAH9_ENST00000454412.2_Silent_p.D1250D NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1250 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GTAGGTTTGATAGCATCCACC 0.468000 14 64 0 0 0.003163 0 0 ADCY5 111 broad.mit.edu 37 3 123010084 123010084 + Missense_Mutation SNP T T C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr3:123010084T>C ENST00000462833.1 - 18 4415 c.3203A>G c.(3202-3204)gAg>gGg p.E1068G ADCY5_ENST00000491190.1_Missense_Mutation_p.E726G|ADCY5_ENST00000309879.5_Missense_Mutation_p.E718G NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 1068 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) CGCCACACACTCACAGGACTG 0.597000 4 59 0 0 0.000248 0 0 PNISR 25957 broad.mit.edu 37 6 99854026 99854026 + Missense_Mutation SNP C C T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr6:99854026C>T ENST00000369239.5 - 8 1087 c.883G>A c.(883-885)Gaa>Aaa p.E295K PNISR_ENST00000438806.1_Missense_Mutation_p.E295K NM_032870.2 NP_116259.2 Q8TF01 PNISR_HUMAN PNN-interacting serine/arginine-rich protein 295 nuclear speck breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 TCAGTGTCTTCTTCTTCCTCA 0.388000 3 33 0 0 0.000248 0 0 PARP10 84875 broad.mit.edu 37 8 145057150 145057150 + Missense_Mutation SNP C C A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr8:145057150C>A ENST00000313028.7 - 9 2600 c.2506G>T c.(2506-2508)Gcc>Tcc p.A836S PARP10_ENST00000524918.1_Missense_Mutation_p.A827S|PARP10_ENST00000525773.1_Missense_Mutation_p.A848S NM_032789.3 NP_116178.2 Q53GL7 PAR10_HUMAN poly (ADP-ribose) polymerase family, member 10 836 Myc binding.|PARP catalytic. Golgi apparatus|nucleolus NAD+ ADP-ribosyltransferase activity|nucleotide binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2) 27 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TCGTAGAAGGCCCGCACCACC 0.642000 4 61 2.56e-06 5.02634e-06 0.000248 1 0 EYS 346007 broad.mit.edu 37 6 66054009 66054009 + Nonsense_Mutation SNP G G T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr6:66054009G>T ENST00000503581.1 - 10 2058 c.1521C>A c.(1519-1521)tgC>tgA p.C507* EYS_ENST00000393380.2_Nonsense_Mutation_p.C507*|EYS_ENST00000370618.3_Nonsense_Mutation_p.C507*|EYS_ENST00000370621.3_Nonsense_Mutation_p.C507*|EYS_ENST00000370616.2_Nonsense_Mutation_p.C507*|EYS_ENST00000342421.5_Nonsense_Mutation_p.C507* NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 507 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 CATCTTCAGTGCAGTTTGCAG 0.353000 12 41 3.07112e-06 5.98125e-06 0.000978 1 0 FUT10 84750 broad.mit.edu 37 8 33247083 33247083 + Nonsense_Mutation SNP T T A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr8:33247083T>A ENST00000327671.5 - 4 1241 c.610A>T c.(610-612)Aaa>Taa p.K204* FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000524021.1_Nonsense_Mutation_p.K176*|FUT10_ENST00000518672.1_Nonsense_Mutation_p.K176*|FUT10_ENST00000335589.3_Nonsense_Mutation_p.K142* NM_032664.3 NP_116053.3 Q6P4F1 FUT10_HUMAN fucosyltransferase 10 (alpha (1,3) fucosyltransferase) 204 embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 29 KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154) AGCTTGTTTTTGGACTGCAAA 0.483000 10 120 0 0 0.000443 0 0 FBN2 2201 broad.mit.edu 37 5 127673703 127673703 + Missense_Mutation SNP C C A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr5:127673703C>A ENST00000508053.1 - 33 4558 c.3584G>T c.(3583-3585)cGt>cTt p.R1195L FBN2_ENST00000507835.1_Missense_Mutation_p.R45L|FBN2_ENST00000262464.4_Missense_Mutation_p.R1195L|FBN2_ENST00000508989.1_Missense_Mutation_p.R1162L P35556 FBN2_HUMAN fibrillin 2 1195 EGF-like 17; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent p.R1195L(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) ACAGTCCTCACGGGATGGTGA 0.527000 4 28 0.00024832 0.000440951 0.000248 1 0 NCF4 4689 broad.mit.edu 37 22 37268425 37268425 + Silent SNP T T C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr22:37268425T>C ENST00000397147.4 + 7 769 c.585T>C c.(583-585)gaT>gaC p.D195D NCF4_ENST00000248899.6_Silent_p.D195D NM_013416.3 NP_038202.2 Q15080 NCF4_HUMAN neutrophil cytosolic factor 4, 40kDa 195 SH3. cell communication|immune response|oxidation-reduction process cytosol|NADPH oxidase complex phosphatidylinositol binding|protein dimerization activity cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 AAGCTGGAGATGTGATCTTCC 0.478000 14 74 0 0 0.004990 0 0 NNT 23530 broad.mit.edu 37 5 43609421 43609421 + Silent SNP C C T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr5:43609421C>T ENST00000264663.5 + 2 345 c.124C>T c.(124-126)Ctg>Ttg p.L42L NNT_ENST00000512996.2_Intron|NNT_ENST00000344920.4_Silent_p.L42L NM_012343.3 NP_036475.3 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 42 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(6;2.58e-06) NADH(DB00157) TCACCAAGAACTGTGGTGTAA 0.403000 3 47 0 0 0.004672 0 0 PDZD2 23037 broad.mit.edu 37 5 32089285 32089285 + Missense_Mutation SNP A A G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr5:32089285A>G ENST00000438447.1 + 20 6119 c.5731A>G c.(5731-5733)Acg>Gcg p.T1911A PDZD2_ENST00000282493.3_Missense_Mutation_p.T1911A O15018 PDZD2_HUMAN PDZ domain containing 2 1911 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GGCTGGGGGGACGGACCACAG 0.582000 3 73 0 0 0.004672 0 0 VOPP1 81552 broad.mit.edu 37 7 55565370 55565370 + Missense_Mutation SNP C C T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr7:55565370C>T ENST00000285279.5 - 3 327 c.127G>A c.(127-129)Gag>Aag p.E43K VOPP1_ENST00000454227.1_Intron|VOPP1_ENST00000433959.1_Missense_Mutation_p.E34K|VOPP1_ENST00000545390.1_Missense_Mutation_p.E40K|VOPP1_ENST00000428097.1_5'UTR|VOPP1_ENST00000471168.1_5'UTR|VOPP1_ENST00000428648.1_5'UTR|VOPP1_ENST00000418904.1_Missense_Mutation_p.E26K|VOPP1_ENST00000427700.1_Missense_Mutation_p.E41K|VOPP1_ENST00000453256.1_5'UTR NM_030796.3 NP_110423.3 Q96AW1 VOPP1_HUMAN vesicular, overexpressed in cancer, prosurvival protein 1 43 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic vesicle membrane|endosome|integral to organelle membrane signal transducer activity endometrium(1)|lung(4) 5 CAGCAGTCCTCGTAGGAGCGG 0.597000 5 54 0 0 0.000602 0 0 C16orf45 89927 broad.mit.edu 37 16 15675108 15675108 + Silent SNP G G A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr16:15675108G>A ENST00000300006.4 + 4 698 c.339G>A c.(337-339)gaG>gaA p.E113E C16orf45_ENST00000566490.1_Silent_p.E113E|C16orf45_ENST00000565913.1_3'UTR|C16orf45_ENST00000561692.1_Silent_p.E65E|C16orf45_ENST00000452191.2_Silent_p.E96E NM_033201.2 NP_149978.1 Q96MC5 CP045_HUMAN chromosome 16 open reading frame 45 113 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1) 11 AGCAGAGAGAGGATGAGCTAA 0.502000 11 15 0 0 0.001855 0 0 CPA2 1358 broad.mit.edu 37 7 129919434 129919434 + Missense_Mutation SNP A A T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr7:129919434A>T ENST00000222481.4 + 9 974 c.919A>T c.(919-921)Agc>Tgc p.S307C NM_001869.2 NP_001860.2 P48052 CBPA2_HUMAN carboxypeptidase A2 (pancreatic) 307 Substrate binding (By similarity). proteolysis|vacuolar protein catabolic process extracellular region|vacuole metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Melanoma(18;0.0435) TACCCTCCACAGCTATTCCCA 0.443000 11 54 0 0 0.000978 0 0 KIF12 113220 broad.mit.edu 37 9 116854684 116854684 + Missense_Mutation SNP G G A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr9:116854684G>A ENST00000374118.3 - 15 1568 c.1331C>T c.(1330-1332)aCg>aTg p.T444M NM_138424.1 NP_612433.1 Q96FN5 KIF12_HUMAN kinesin family member 12 577 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 17 CTCCTCCTCCGTCAACATCTC 0.622000 5 93 0 0 0.003080 0 0 ZKSCAN2 342357 broad.mit.edu 37 16 25268403 25268403 + Missense_Mutation SNP C C G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr16:25268403C>G ENST00000328086.7 - 1 849 c.46G>C c.(46-48)Gag>Cag p.E16Q NM_001012981.4 NP_001012999.3 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 16 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 36 GBM - Glioblastoma multiforme(48;0.0378) AGGCATCCCTCAACCTCCAGG 0.562000 OREG0023690 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 98 0 0 0.003080 0 0 TRRAP 8295 broad.mit.edu 37 7 98609091 98609091 + Missense_Mutation SNP G G T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr7:98609091G>T ENST00000359863.4 + 71 11437 c.11228G>T c.(11227-11229)gGg>gTg p.G3743V TRRAP_ENST00000446306.3_Missense_Mutation_p.G3732V|TRRAP_ENST00000355540.3_Missense_Mutation_p.G3714V NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 3743 PI3K/PI4K. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity p.G3714E(2)|p.G3743E(2) NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) ACCACCATCGGGGTCTCCGGC 0.572000 10 79 0.000673444 0.00115345 0.000673 1 0 ZHX3 23051 broad.mit.edu 37 20 39832030 39832030 + Silent SNP C C G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr20:39832030C>G ENST00000309060.3 - 4 1942 c.1527G>C c.(1525-1527)ctG>ctC p.L509L ZHX3_ENST00000540170.1_Silent_p.L509L|ZHX3_ENST00000560361.1_Silent_p.L509L|ZHX3_ENST00000432768.2_Silent_p.L509L|ZHX3_ENST00000559234.1_Silent_p.L509L|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Silent_p.L509L Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 509 Required for nuclear localization. negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) AGCTCCCTTTCAGAGCTGACA 0.522000 8 41 0 0 0.003080 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25168424 25168424 + RNA SNP G G A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr13:25168424G>A ENST00000453498.1 + 0 1096 GCATGACATTGAAACAGCTGG 0.363000 5 17 0 0 0.000602 0 0 SMTN 6525 broad.mit.edu 37 22 31484501 31484501 + Missense_Mutation SNP C C G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr22:31484501C>G ENST00000333137.7 + 4 421 c.203C>G c.(202-204)tCt>tGt p.S68C SMTN_ENST00000358743.1_Missense_Mutation_p.S68C|SMTN_ENST00000347557.2_Missense_Mutation_p.S68C|SMTN_ENST00000475548.1_3'UTR NM_001207018.1|NM_134269.2 NP_001193947.1|NP_599031.1 P53814 SMTN_HUMAN smoothelin 68 muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3) 25 CTCTGCAGCTCTCAGCAGCGG 0.607000 15 82 0 0 0.000743 0 0 TCF25 22980 broad.mit.edu 37 16 89967051 89967051 + Silent SNP G G C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr16:89967051G>C ENST00000263346.8 + 12 1286 c.1230G>C c.(1228-1230)cgG>cgC p.R410R TCF25_ENST00000263347.7_Silent_p.R175R NM_014972.2 NP_055787.1 Q9BQ70 TCF25_HUMAN transcription factor 25 (basic helix-loop-helix) 410 heart development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2) 18 all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027) BRCA - Breast invasive adenocarcinoma(80;0.0288) AGGCTCATCGGAACCTGTCCC 0.522000 6 55 0 0 0.001984 0 0 EPHA7 2045 broad.mit.edu 37 6 93982064 93982064 + Missense_Mutation SNP C C A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr6:93982064C>A ENST00000369303.4 - 6 1585 c.1401G>T c.(1399-1401)gaG>gaT p.E467D NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 467 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) CATTGGGATGCTCTGGTTCCT 0.448000 17 107 1.99824e-07 4.10701e-07 0.004990 1 0 OR1L1 26737 broad.mit.edu 37 9 125424358 125424358 + Missense_Mutation SNP C C T rs146376238 TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr9:125424358C>T ENST00000373686.1 + 1 514 c.514C>T c.(514-516)Cgc>Tgc p.R172C Q8NH94 OR1L1_HUMAN olfactory receptor, family 1, subfamily L, member 1 172 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1) 17 GGCCATTGACCGCTATGTGGC 0.458000 32 198 0 0 0.001786 0 0 OR6K3 391114 broad.mit.edu 37 1 158687325 158687325 + Missense_Mutation SNP A A T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr1:158687325A>T ENST00000368146.1 - 1 628 c.629T>A c.(628-630)aTg>aAg p.M210K OR6K3_ENST00000368145.1_Missense_Mutation_p.M194K Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, member 3 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1) 41 all_hematologic(112;0.0378) AATCAGAATCATGGACGTGTC 0.453000 15 142 0 0 0.004007 0 0 CDH26 60437 broad.mit.edu 37 20 58569350 58569350 + Missense_Mutation SNP C C T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr20:58569350C>T ENST00000348616.4 + 11 1772 c.1472C>T c.(1471-1473)tCt>tTt p.S491F CDH26_ENST00000244047.5_Missense_Mutation_p.S491F|CDH26_ENST00000497614.1_3'UTR NM_177980.2 NP_817089.1 Q8IXH8 CAD26_HUMAN cadherin 26 491 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 44 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) CTCTTCCTGTCTGACATCAAT 0.557000 6 37 0 0 0.001984 0 0 HSPB8 26353 broad.mit.edu 37 12 119617367 119617367 + Missense_Mutation SNP G G A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr12:119617367G>A ENST00000281938.2 + 1 921 c.250G>A c.(250-252)Gag>Aag p.E84K NM_014365.2 NP_055180.1 Q9UJY1 HSPB8_HUMAN heat shock 22kDa protein 8 84 cell death|response to heat cytoplasm|nucleus identical protein binding|protein serine/threonine kinase activity p.E84K(2)|p.E84*(2)|p.E84Q(2) central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1) 14 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGTGCCTGCCGAGGGCAGGAC 0.657000 6 37 0 0 0.001168 0 0 OR5J2 282775 broad.mit.edu 37 11 55944365 55944365 + Missense_Mutation SNP C C G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr11:55944365C>G ENST00000312298.1 + 1 272 c.272C>G c.(271-273)aCa>aGa p.T91R NM_001005492.1 NP_001005492.1 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, member 2 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 44 Esophageal squamous(21;0.00693) GTGAAGGCAACAATTTCTTTC 0.453000 7 98 0 0 0.001984 0 0 TLK1 9874 broad.mit.edu 37 2 171863128 171863128 + Missense_Mutation SNP C C G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr2:171863128C>G ENST00000442919.2 - 17 2095 c.1480G>C c.(1480-1482)Gaa>Caa p.E494Q TLK1_ENST00000360843.3_Missense_Mutation_p.E563Q|TLK1_ENST00000431350.2_Missense_Mutation_p.E542Q|TLK1_ENST00000434911.2_Missense_Mutation_p.E446Q|TLK1_ENST00000521943.1_Missense_Mutation_p.E494Q NM_012290.4 NP_036422.3 Q9UKI8 TLK1_HUMAN tousled-like kinase 1 542 Protein kinase. cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 TCATTGCCTTCACAGTATTCT 0.348000 7 75 0 0 0.004482 0 0 NRDE2 55051 broad.mit.edu 37 14 90770522 90770522 + Missense_Mutation SNP T T C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr14:90770522T>C ENST00000354366.3 - 5 994 c.762A>G c.(760-762)atA>atG p.I254M NRDE2_ENST00000357904.3_Missense_Mutation_p.I23M NM_017970.3 NP_060440.2 NRDE-2, necessary for RNA interference, domain containing CCTTCACTGGTATAAAGGAGA 0.453000 6 83 0 0 0.001984 0 0 NUFIP2 57532 broad.mit.edu 37 17 27613571 27613571 + Missense_Mutation SNP T T C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr17:27613571T>C ENST00000225388.4 - 2 1499 c.1441A>G c.(1441-1443)Atg>Gtg p.M481V NUFIP2_ENST00000579665.1_Intron NM_020772.2 NP_065823.1 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein interacting protein 2 481 nucleus|polysomal ribosome protein binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 24 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) CTCAACAGCATAGTTTGCATA 0.413000 4 56 0 0 0.000248 0 0 DSP 1832 broad.mit.edu 37 6 7572109 7572109 + Nonsense_Mutation SNP C C A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr6:7572109C>A ENST00000379802.3 + 15 2279 c.1938C>A c.(1936-1938)tgC>tgA p.C646* DSP_ENST00000418664.2_Nonsense_Mutation_p.C646* NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 646 Globular 1. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) ATGGAACCTGCCAAGATGTCA 0.413000 14 87 1.3612e-06 2.7056e-06 0.003163 1 0 RTN4RL2 349667 broad.mit.edu 37 11 57235087 57235087 + Missense_Mutation SNP G G A rs140089941 TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr11:57235087G>A ENST00000335099.3 + 2 354 c.37G>A c.(37-39)Gcc>Acc p.A13T RTN4RL2_ENST00000395120.2_Missense_Mutation_p.A13T|RTN4RL2_ENST00000533205.1_Missense_Mutation_p.A13T NM_178570.1 NP_848665.1 Q86UN3 R4RL2_HUMAN reticulon 4 receptor-like 2 13 axon regeneration anchored to plasma membrane receptor activity NS(1)|endometrium(1)|large_intestine(2)|lung(2) 6 CACAGCTCCCGCCTCGGCCTG 0.682000 6 62 0 0 0.001168 0 0 CTNND2 1501 broad.mit.edu 37 5 11111044 11111044 + Missense_Mutation SNP C C T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr5:11111044C>T ENST00000304623.8 - 14 2578 c.2389G>A c.(2389-2391)Gag>Aag p.E797K CTNND2_ENST00000359640.2_Missense_Mutation_p.E797K|CTNND2_ENST00000503622.1_Missense_Mutation_p.E460K|CTNND2_ENST00000458100.2_Missense_Mutation_p.E364K|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.E706K NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 797 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 CCATTGGCCTCGCCACAGAGT 0.562000 16 246 0 0 0.004990 0 0 FAF2 23197 broad.mit.edu 37 5 175913446 175913446 + Missense_Mutation SNP G G C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr5:175913446G>C ENST00000261942.6 + 3 276 c.223G>C c.(223-225)Gac>Cac p.D75H FAF2_ENST00000510446.1_3'UTR NM_014613.2 NP_055428.1 Q96CS3 FAF2_HUMAN Fas associated factor family member 2 75 response to unfolded protein endoplasmic reticulum|lipid particle protein binding breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 10 TAATACAGCTGACCACAGGAT 0.453000 8 56 0 0 0.004482 0 0 RYR3 6263 broad.mit.edu 37 15 33905510 33905510 + Missense_Mutation SNP G G C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr15:33905510G>C ENST00000389232.4 + 19 2361 c.2291G>C c.(2290-2292)gGg>gCg p.G764A RYR3_ENST00000415757.3_Missense_Mutation_p.G764A NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 764 B30.2/SPRY 1. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CCCGTGCAGGGGATGTTTGAG 0.532000 3 31 0 0 0.004672 0 0 RRAGB 10325 broad.mit.edu 37 X 55755773 55755773 + Missense_Mutation SNP G G C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chrX:55755773G>C ENST00000374941.4 + 4 862 c.273G>C c.(271-273)ttG>ttC p.L91F RRAGB_ENST00000262850.7_Missense_Mutation_p.L119F NM_006064.4 NP_006055.3 Q5VZM2 RRAGB_HUMAN Ras-related GTP binding B 119 cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction Golgi apparatus|lysosome|nucleus GTP binding|protein binding breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1) 14 ACCTGGTATTGAACCTGTGGG 0.398000 6 34 0 0 0.001984 0 0 TTN 7273 broad.mit.edu 37 2 179455242 179455242 + Silent SNP G G A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr2:179455242G>A ENST00000589042.1 - 304 61434 c.61210C>T c.(61210-61212)Cta>Tta p.L20404L TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000591111.1_Silent_p.L18763L|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.L11464L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.L17836L|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Silent_p.L11339L|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.L11531L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 18763 Fibronectin type-III 47. 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) ACATATCCTAGAATGGGGCTA 0.448000 8 119 0 0 0.004482 0 0 OTOF 9381 broad.mit.edu 37 2 26684613 26684613 + Silent SNP G G C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr2:26684613G>C ENST00000272371.2 - 43 5610 c.5484C>G c.(5482-5484)ctC>ctG p.L1828L OTOF_ENST00000403946.3_Silent_p.L1828L|OTOF_ENST00000402415.3_Silent_p.L1138L|OTOF_ENST00000339598.3_Silent_p.L1061L|OTOF_ENST00000338581.6_Silent_p.L1061L NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 1828 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCTGCAGGGTGAGCCGCGCGG 0.607000 8 94 0 0 0.003080 0 0 RBM41 55285 broad.mit.edu 37 X 106310824 106310824 + Nonsense_Mutation SNP G G C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chrX:106310824G>C ENST00000372487.1 - 7 1201 c.1175C>G c.(1174-1176)tCa>tGa p.S392* RBM41_ENST00000372479.3_Nonsense_Mutation_p.S392* NM_001171080.1 NP_001164551.1 Q96IZ5 RBM41_HUMAN RNA binding motif protein 41 392 nucleotide binding|RNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 13 TTGGAGATTTGACCGTTGCTT 0.383000 19 109 0 0 0.000743 0 0 PRG4 10216 broad.mit.edu 37 1 186276052 186276052 + Missense_Mutation SNP A A C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr1:186276052A>C ENST00000445192.2 + 7 1246 c.1201A>C c.(1201-1203)Acc>Ccc p.T401P PRG4_ENST00000367485.4_Missense_Mutation_p.T308P|PRG4_ENST00000367483.4_Missense_Mutation_p.T360P|PRG4_ENST00000367486.3_Missense_Mutation_p.T358P|PRG4_ENST00000367484.3_Missense_Mutation_p.T360P NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 401 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T401P(4)|p.T400>?(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 ACCCACCACCACCAAGGAGCC 0.642000 6 69 0 0 0.003080 0 0 FARSA 2193 broad.mit.edu 37 19 13035517 13035517 + Silent SNP C C T rs113870503 byFrequency TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr19:13035517C>T ENST00000588025.1 - 11 1391 c.1251G>A c.(1249-1251)gtG>gtA p.V417V FARSA_ENST00000423140.2_Silent_p.V346V|FARSA_ENST00000314606.4_Silent_p.V377V Q9Y285 SYFA_HUMAN phenylalanyl-tRNA synthetase, alpha subunit 377 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1) 20 L-Phenylalanine(DB00120) CATGATCCGCCACCACGCCCT 0.627000 12 37 0 0 0.000978 0 0 TRPM1 4308 broad.mit.edu 37 15 31341653 31341653 + Silent SNP C C T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr15:31341653C>T ENST00000542188.1 - 12 1861 c.1548G>A c.(1546-1548)gtG>gtA p.V516V TRPM1_ENST00000397795.2_Silent_p.V477V|TRPM1_ENST00000256552.6_Silent_p.V499V NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 477 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) TCAGGAGCTTCACAAAGTCGA 0.502000 16 85 0 0 0.004007 0 0 OR5T1 390155 broad.mit.edu 37 11 56044014 56044014 + Silent SNP C C T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr11:56044014C>T ENST00000313033.2 + 1 986 c.900C>T c.(898-900)atC>atT p.I300I NM_001004745.1 NP_001004745.1 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, member 1 300 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) TGAATCCCATCATCTACAGTT 0.353000 9 79 0 0 0.004482 0 0 NSMCE2 286053 broad.mit.edu 37 8 126194398 126194398 + Silent SNP G G A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr8:126194398G>A ENST00000287437.3 + 5 534 c.318G>A c.(316-318)aaG>aaA p.K106K NSMCE2_ENST00000522563.1_Silent_p.K106K|NSMCE2_ENST00000517315.1_Silent_p.K46K NM_173685.2 NP_775956.1 Q96MF7 NSE2_HUMAN non-SMC element 2, MMS21 homolog (S. cerevisiae) 106 DNA recombination|DNA repair nucleus ligase activity|zinc ion binding breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2) 9 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918) TGGTAGAGAAGAAATTTTTGG 0.294000 4 94 0 0 0.000248 0 0 TRAV9-1 28678 broad.mit.edu 37 14 22280084 22280084 + RNA SNP T T C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr14:22280084T>C ENST00000390431.3 + 0 273 AAACCACTTCTTTCCACTTGG 0.498000 6 34 0 0 0.001168 0 0 COL11A1 1301 broad.mit.edu 37 1 103352393 103352393 + Missense_Mutation SNP G G T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr1:103352393G>T ENST00000358392.2 - 63 5181 c.4864C>A c.(4864-4866)Ctg>Atg p.L1622M COL11A1_ENST00000353414.4_Missense_Mutation_p.L1571M|COL11A1_ENST00000370096.3_Missense_Mutation_p.L1610M|COL11A1_ENST00000512756.1_Missense_Mutation_p.L1494M NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1610 Fibrillar collagen NC1. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CTGAGTTGCAGGTCTTTACAA 0.438000 12 141 0.00136819 0.00230257 0.001368 1 0 ELTD1 64123 broad.mit.edu 37 1 79404939 79404939 + Silent SNP A A G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr1:79404939A>G ENST00000370742.3 - 4 393 c.330T>C c.(328-330)aaT>aaC p.N110N NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 110 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TTGCATTCACATTTTCTGTAA 0.244000 16 27 0 0 0.000743 0 0 MAGI2 9863 broad.mit.edu 37 7 77764519 77764519 + Silent SNP C C A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr7:77764519C>A ENST00000354212.4 - 17 3103 c.2850G>T c.(2848-2850)gtG>gtT p.V950V MAGI2_ENST00000419488.1_Silent_p.V936V|MAGI2_ENST00000522391.1_Silent_p.V950V NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 950 PDZ 5. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TTTTATGGGGCACAGCTAAAA 0.458000 7 64 0.000157383 0.000281541 0.003080 1 0 DNAH9 1770 broad.mit.edu 37 17 11809074 11809074 + Missense_Mutation SNP G G A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr17:11809074G>A ENST00000262442.3 + 61 11765 c.11697G>A c.(11695-11697)atG>atA p.M3899I DNAH9_ENST00000396001.2_Missense_Mutation_p.M211I|DNAH9_ENST00000454412.2_Missense_Mutation_p.M3899I NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3899 AAA 6 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CCACTCCTATGTTTTTCATCC 0.498000 7 28 0 0 0.001984 0 0 BCL2L1 598 broad.mit.edu 37 20 30309467 30309467 + Silent SNP G G A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr20:30309467G>A ENST00000307677.4 - 2 965 c.555C>T c.(553-555)aaC>aaT p.N185N BCL2L1_ENST00000376062.2_Silent_p.N185N|BCL2L1_ENST00000420653.1_Silent_p.N185N|BCL2L1_ENST00000376055.4_Intron NM_138578.1 NP_612815.1 Q07817 B2CL1_HUMAN BCL2-like 1 185 induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nuclear membrane BH3 domain binding|identical protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264) CCCAGCCGCCGTTCTCCTGGA 0.522000 9 81 0 0 0.004482 0 0 USP26 83844 broad.mit.edu 37 X 132160157 132160157 + Nonsense_Mutation SNP G G A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chrX:132160157G>A ENST00000511190.1 - 6 2561 c.2092C>T c.(2092-2094)Cga>Tga p.R698* USP26_ENST00000406273.1_Nonsense_Mutation_p.R698*|USP26_ENST00000370832.1_Nonsense_Mutation_p.R698* NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 698 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) TATTTCTTTCGTTTTGGATTT 0.383000 7 57 0 0 0.003080 0 0 NOP9 161424 broad.mit.edu 37 14 24774178 24774178 + Silent SNP C C T rs138357845 byFrequency TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr14:24774178C>T ENST00000267425.3 + 10 1881 c.1788C>T c.(1786-1788)ttC>ttT p.F596F NOP9_ENST00000396802.3_3'UTR NM_174913.1 NP_777573.1 NOP9 nucleolar protein GAGACCCTTTCGGCCACCATG 0.547000 5 44 0 0 0.001168 0 0 ZBTB41 360023 broad.mit.edu 37 1 197168484 197168484 + Splice_Site SNP C C T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr1:197168484C>T ENST00000367405.4 - 1 1188 c.1120_splice c.e1+1 p.G374_splice ZBTB41_ENST00000467322.1_5'UTR NM_194314.2 NP_919290.2 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 374 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 40 CTTTTCTTACCTATTCGGTCA 0.308000 4 39 0 0 0.000248 0 0 CSTF3 1479 broad.mit.edu 37 11 33108570 33108570 + Nonsense_Mutation SNP G G A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr11:33108570G>A ENST00000323959.4 - 18 1898 c.1759C>T c.(1759-1761)Cag>Tag p.Q587* TCP11L1_ENST00000324357.9_Intron NM_001326.2 NP_001317.1 Q12996 CSTF3_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa 587 Pro-rich. mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm protein binding|RNA binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1) 19 ATCATCTGCTGAGTGTCTGGT 0.428000 12 182 0 0 0.001368 0 0 ABCA12 26154 broad.mit.edu 37 2 215838676 215838676 + Silent SNP G G C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr2:215838676G>C ENST00000272895.7 - 36 5778 c.5559C>G c.(5557-5559)gtC>gtG p.V1853V ABCA12_ENST00000389661.4_Silent_p.V1535V NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 1853 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) ATCTTACCTGGACATTTTCTG 0.383000 9 45 0 0 0.004482 0 0 KRTAP10-10 353333 broad.mit.edu 37 21 46057896 46057896 + Missense_Mutation SNP T T A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr21:46057896T>A ENST00000380095.1 + 1 624 c.562T>A c.(562-564)Tcc>Acc p.S188T TSPEAR_ENST00000323084.4_Intron NM_181688.1 NP_859016.1 P60014 KR10A_HUMAN keratin associated protein 10-10 188 15 X 5 AA repeats of C-C-X(3). keratin filament NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 13 CAGACCCTCCTCCTCCGTGTC 0.662000 8 164 0 0 0.004482 0 0 TFAP2E 339488 broad.mit.edu 37 1 36054008 36054008 + Missense_Mutation SNP C C A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr1:36054008C>A ENST00000373235.3 + 4 848 c.640C>A c.(640-642)Cct>Act p.P214T NM_178548.3 NP_848643.2 Q6VUC0 AP2E_HUMAN transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon) 214 nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1) 2 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) CATCACAAATCCTGGTGAGGT 0.627000 7 80 5.4927e-09 1.16359e-08 0.004482 1 0 ZNF614 80110 broad.mit.edu 37 19 52519665 52519665 + Missense_Mutation SNP C C G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr19:52519665C>G ENST00000270649.6 - 5 1730 c.1186G>C c.(1186-1188)Gaa>Caa p.E396Q ZNF614_ENST00000356322.6_Intron NM_025040.3 NP_079316.2 Q8N883 ZN614_HUMAN zinc finger protein 614 396 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) TAAGATTTTTCTCCTGTGTGG 0.433000 23 124 0 0 0.003330 0 0 PCDHA9 9752 broad.mit.edu 37 5 140230332 140230332 + Nonsense_Mutation SNP C C A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr5:140230332C>A ENST00000378122.3 + 1 2976 c.2252C>A c.(2251-2253)tCg>tAg p.S751* PCDHA9_ENST00000532602.1_Nonsense_Mutation_p.S751*|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGTCGTACTCGCAGCAGAGG 0.642000 10 71 3.07112e-06 5.98125e-06 0.000978 1 0 RYR1 6261 broad.mit.edu 37 19 39018978 39018978 + Silent SNP G G T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr19:39018978G>T ENST00000355481.4 + 73 10973 c.10842G>T c.(10840-10842)gtG>gtT p.V3614V RYR1_ENST00000360985.3_Silent_p.V3619V|AC067969.1_ENST00000597015.1_RNA|RYR1_ENST00000359596.3_Silent_p.V3619V NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3619 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AGAAGGCCGTGTGGCACAAGC 0.612000 4 35 0.000602214 0.00103512 0.000602 1 0 NDST4 64579 broad.mit.edu 37 4 115856489 115856489 + Splice_Site SNP A A T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr4:115856489A>T ENST00000264363.2 - 6 2087 c.1407_splice c.e6-1 p.V470_splice NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 470 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) TCGAGGGAGGACCTGAGTAAA 0.393000 5 23 0 0 0.000602 0 0 OR1A2 26189 broad.mit.edu 37 17 3101596 3101596 + Missense_Mutation SNP C C A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr17:3101596C>A ENST00000381951.1 + 1 784 c.784C>A c.(784-786)Ctg>Atg p.L262M NM_012352.1 NP_036484.1 Q9Y585 OR1A2_HUMAN olfactory receptor, family 1, subfamily A, member 2 262 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2) 18 TTTCCGCCCTCTGACCAGTTA 0.433000 17 76 4.14922e-12 9.15101e-12 0.004007 1 0 CLSTN3 9746 broad.mit.edu 37 12 7288024 7288024 + Missense_Mutation SNP G G A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr12:7288024G>A ENST00000537408.1 + 3 1059 c.521G>A c.(520-522)cGc>cAc p.R174H CLSTN3_ENST00000266546.6_Missense_Mutation_p.R162H Q9BQT9 CSTN3_HUMAN calsyntenin 3 162 Cadherin 2. homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 CTGTACGATCGCATCCTGCGG 0.562000 5 49 0 0 0.000602 0 0 SDHAP1 255812 broad.mit.edu 37 3 195710993 195710993 + RNA SNP A A G rs4927692 by1000genomes TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr3:195710993A>G ENST00000427841.1 - 0 739 NR_003264.2 CCTCCCGTATAAGGTGTGCAA 0.617000 4 29 0 0 0.001168 0 0 RBM6 10180 broad.mit.edu 37 3 50095202 50095202 + Missense_Mutation SNP C C G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr3:50095202C>G ENST00000443081.1 + 9 2258 c.1339C>G c.(1339-1341)Cag>Gag p.Q447E RBM6_ENST00000539992.1_5'UTR|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000422955.1_Missense_Mutation_p.Q57E|RBM6_ENST00000442092.1_Missense_Mutation_p.Q57E|RBM6_ENST00000266022.4_Missense_Mutation_p.Q579E P78332 RBM6_HUMAN RNA binding motif protein 6 579 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) CCCTCAGCCTCAGAAAACATC 0.428000 9 82 0 0 0.000443 0 0 TEF 7008 broad.mit.edu 37 22 41783534 41783534 + Missense_Mutation SNP A A G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr22:41783534A>G ENST00000266304.4 + 2 453 c.337A>G c.(337-339)Agc>Ggc p.S113G TEF_ENST00000406644.3_Missense_Mutation_p.S83G NM_003216.3 NP_003207.1 Q10587 TEF_HUMAN thyrotrophic embryonic factor 113 rhythmic process nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(2)|lung(2)|ovary(1) 6 CATCCCCGCCAGCCCCACCCA 0.592000 14 102 0 0 0.003163 0 0 USP29 57663 broad.mit.edu 37 19 57641440 57641440 + Missense_Mutation SNP C C A rs137993626 TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr19:57641440C>A ENST00000254181.4 + 4 1851 c.1397C>A c.(1396-1398)cCt>cAt p.P466H USP29_ENST00000598197.1_Missense_Mutation_p.P466H NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 466 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AAACCACTTCCTTTGTCCATT 0.378000 19 68 8.00594e-06 1.54059e-05 0.000958 1 0 TNN 63923 broad.mit.edu 37 1 175116197 175116197 + Missense_Mutation SNP G G A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr1:175116197G>A ENST00000239462.4 + 19 4003 c.3890G>A c.(3889-3891)cGa>cAa p.R1297Q NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 1297 cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GGAAGGCTGCGAACGTTCTGA 0.602000 OREG0013992 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 25 0 0 0.000443 0 0 EPB41L4B 54566 broad.mit.edu 37 9 111956512 111956512 + Silent SNP G G T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr9:111956512G>T ENST00000374566.3 - 21 2728 c.2211C>A c.(2209-2211)tcC>tcA p.S737S NM_019114.3 NP_061987.3 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 737 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TGGCCCCAGGGGACAGCAGGC 0.572000 10 89 1.58986e-06 3.14715e-06 0.000673 1 0 MX1 4599 broad.mit.edu 37 21 42830502 42830502 + Silent SNP C C T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr21:42830502C>T ENST00000398600.2 + 19 2831 c.1806C>T c.(1804-1806)ttC>ttT p.F602F MX1_ENST00000398598.3_Silent_p.F602F|MX1_ENST00000288383.6_Silent_p.F579F|MX1_ENST00000455164.2_Silent_p.F602F NM_001144925.1 NP_001138397.1 P20591 MX1_HUMAN myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) 602 GED. induction of apoptosis|response to virus|type I interferon-mediated signaling pathway cytosol GTP binding|GTPase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 27 Prostate(19;3.18e-07)|all_epithelial(19;0.0277) TCATCCAGTTCTTCATGCTCC 0.592000 12 177 0 0 0.001368 0 0 NUP210L 91181 broad.mit.edu 37 1 153974274 153974274 + Missense_Mutation SNP G G T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr1:153974274G>T ENST00000368559.3 - 36 5189 c.5118C>A c.(5116-5118)agC>agA p.S1706R NUP210L_ENST00000271854.3_Intron|NUP210L_ENST00000368553.1_Intron NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 1706 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) CTTGTTTGTGGCTAAGAACCA 0.428000 13 205 0.00185496 0.00310015 0.001855 1 0 RRP12 23223 broad.mit.edu 37 10 99144961 99144961 + Missense_Mutation SNP C C A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr10:99144961C>A ENST00000370992.4 - 10 1281 c.1170G>T c.(1168-1170)tgG>tgT p.W390C RRP12_ENST00000315563.6_Missense_Mutation_p.W290C|RRP12_ENST00000536831.1_Missense_Mutation_p.W108C|RRP12_ENST00000414986.1_Missense_Mutation_p.W329C NM_015179.3 NP_055994.2 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog (S. cerevisiae) 390 integral to membrane|nuclear membrane|nucleolus protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) TGACCTTAAGCCAGGCTAGCA 0.537000 19 77 8.34094e-07 1.66474e-06 0.001216 1 0 DKC1 1736 broad.mit.edu 37 X 153996698 153996698 + Missense_Mutation SNP G G C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chrX:153996698G>C ENST00000369550.5 + 8 972 c.762G>C c.(760-762)atG>atC p.M254I NM_001142463.1|NM_001363.3 NP_001135935.1|NP_001354.1 O60832 DKC1_HUMAN dyskeratosis congenita 1, dyskerin 254 cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase Cajal body|nucleolus|telomerase holoenzyme complex protein binding|pseudouridine synthase activity|RNA binding|telomerase activity breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1) 15 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CTGGAGTCATGAGTGAAAAGG 0.493000 Congenital Dyskeratosis 21 93 0 0 0.002299 0 0 ZAN 7455 broad.mit.edu 37 7 100359846 100359846 + RNA SNP C C A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr7:100359846C>A ENST00000542585.1 + 0 3999 ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) AGCACATACTCTGGCAAACTC 0.577000 9 38 3.09899e-07 6.28912e-07 0.004482 1 0 VWA3B 200403 broad.mit.edu 37 2 98887340 98887340 + Silent SNP G G A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr2:98887340G>A ENST00000477737.1 + 22 3243 c.3039G>A c.(3037-3039)ccG>ccA p.P1013P VWA3B_ENST00000490947.2_3'UTR NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 1013 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 ACAAGGCCCCGGGAGAGGTGG 0.532000 9 60 0 0 0.004482 0 0 OR8B2 26595 broad.mit.edu 37 11 124252802 124252802 + Silent SNP A A G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr11:124252802A>G ENST00000375013.2 - 1 456 c.438T>C c.(436-438)ttT>ttC p.F146F NM_001005468.1 NP_001005468.1 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, member 2 146 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1) 23 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) TGTAAGCAGCAAAAGTGAGCA 0.468000 3 19 0 0 0.004672 0 0 TRIM22 10346 broad.mit.edu 37 11 5717615 5717615 + Missense_Mutation SNP A A C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr11:5717615A>C ENST00000379965.3 + 2 430 c.153A>C c.(151-153)agA>agC p.R51S TRIM5_ENST00000380027.1_Intron NM_001199573.1|NM_006074.4 NP_001186502.1|NP_006065.2 Q8IYM9 TRI22_HUMAN tripartite motif containing 22 51 immune response|interspecies interaction between organisms|protein trimerization|response to virus Cajal body|Golgi apparatus|nuclear speck ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2) 23 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14) TCATCTCAAGAGGGGAAAGCA 0.532000 4 49 0 0 0.000248 0 0 TMPRSS11E 28983 broad.mit.edu 37 4 69337200 69337200 + Missense_Mutation SNP G G T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr4:69337200G>T ENST00000305363.4 + 5 413 c.349G>T c.(349-351)Gct>Tct p.A117S NM_014058.3 NP_054777.2 Q9UL52 TM11E_HUMAN transmembrane protease, serine 11E 117 SEA. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity endometrium(1)|lung(19)|pancreas(1)|skin(3) 24 TGGAGTGTTGGCTCATATGCT 0.398000 24 195 3.01185e-09 6.43683e-09 0.003954 1 0 ZNF536 9745 broad.mit.edu 37 19 30935893 30935893 + Missense_Mutation SNP G G A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr19:30935893G>A ENST00000355537.3 + 2 1571 c.1424G>A c.(1423-1425)aGc>aAc p.S475N NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 475 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CCCATCTCCAGCATGGCCCAC 0.657000 5 46 0 0 0.000602 0 0 FREM1 158326 broad.mit.edu 37 9 14747282 14747282 + Missense_Mutation SNP C C T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr9:14747282C>T ENST00000380881.4 - 34 6807 c.5992G>A c.(5992-5994)Gac>Aac p.D1998N FREM1_ENST00000422223.2_Missense_Mutation_p.D1997N|FREM1_ENST00000380880.3_Missense_Mutation_p.D1997N|FREM1_ENST00000380894.1_Missense_Mutation_p.D533N Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 1997 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) AAGTGTGAGTCAGTTGTGGAT 0.408000 16 147 0 0 0.000743 0 0 SV2A 9900 broad.mit.edu 37 1 149885253 149885253 + Missense_Mutation SNP G G C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr1:149885253G>C ENST00000369146.3 - 2 630 c.140C>G c.(139-141)tCc>tGc p.S47C SV2A_ENST00000369145.1_Missense_Mutation_p.S47C NM_014849.3 NP_055664.3 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2A 47 Interaction with SYT1 (By similarity). neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) CTCAAAGCGGGAGTACGATCT 0.537000 35 72 0 0 0.005524 0 0 PRIMA1 145270 broad.mit.edu 37 14 94187833 94187833 + Missense_Mutation SNP G G A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr14:94187833G>A ENST00000393140.1 - 5 521 c.419C>T c.(418-420)tCg>tTg p.S140L PRIMA1_ENST00000316227.3_3'UTR|PRIMA1_ENST00000393143.1_Missense_Mutation_p.S140L NM_178013.3 NP_821092.1 Q86XR5 PRIMA_HUMAN proline rich membrane anchor 1 140 neurotransmitter catabolic process cell junction|integral to membrane|synapse endometrium(1)|large_intestine(2)|lung(3)|skin(1) 7 all_cancers(154;0.127) Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229) GTTGCTCTGCGAAGCACTCAT 0.577000 4 48 0 0 0.000602 0 0 CENPF 1063 broad.mit.edu 37 1 214813858 214813858 + Missense_Mutation SNP C C G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr1:214813858C>G ENST00000366955.3 + 12 2345 c.2177C>G c.(2176-2178)tCt>tGt p.S726C NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 726 cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) TTGAAGACTTCTCAGCTTACT 0.403000 8 41 0 0 0.004482 0 0 OR4C15 81309 broad.mit.edu 37 11 55322726 55322726 + Missense_Mutation SNP C C A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr11:55322726C>A ENST00000314644.2 + 1 944 c.944C>A c.(943-945)cCa>cAa p.P315Q NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 ACACGACCTCCATCTGCTTTT 0.393000 HNSCC(20;0.049) 11 136 2.80697e-09 6.02564e-09 0.000978 1 0 CDH12 1010 broad.mit.edu 37 5 21755753 21755753 + Missense_Mutation SNP C C T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr5:21755753C>T ENST00000382254.1 - 14 2918 c.1832G>A c.(1831-1833)gGa>gAa p.G611E CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.G571E|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Missense_Mutation_p.G611E NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 611 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G611E(1) NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 AGTGCTAAGTCCTACAGGTAG 0.398000 HNSCC(59;0.17) 11 52 0 0 0.000673 0 0 F11R 50848 broad.mit.edu 37 1 160990842 160990842 + Missense_Mutation SNP C C G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr1:160990842C>G ENST00000368026.6 - 1 296 c.22G>C c.(22-24)Gag>Cag p.E8Q F11R_ENST00000289779.3_3'UTR|F11R_ENST00000537746.1_Missense_Mutation_p.E8Q NM_016946.4 NP_058642.1 Q9Y624 JAM1_HUMAN F11 receptor 8 blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly integral to membrane|tight junction breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2) 12 all_cancers(52;6.73e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00207) AGTTTCCTCTCGACTTGCGCC 0.577000 7 44 0 0 0.001368 0 0 CHST6 4166 broad.mit.edu 37 16 75512953 75512953 + Silent SNP G G C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr16:75512953G>C ENST00000332272.4 - 3 953 c.774C>G c.(772-774)ctC>ctG p.L258L CHST6_ENST00000390664.2_Silent_p.L258L|RP11-77K12.4_ENST00000530512.3_RNA NM_021615.4 NP_067628.1 Q9GZX3 CHST6_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 258 keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane N-acetylglucosamine 6-O-sulfotransferase activity central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 GTGGCGGCTTGAGTGTGGCGG 0.711000 4 33 0 0 0.000248 0 0 TSC22D4 81628 broad.mit.edu 37 7 100074925 100074925 + Nonsense_Mutation SNP A A T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr7:100074925A>T ENST00000300181.2 - 2 1491 c.737T>A c.(736-738)tTg>tAg p.L246* TSC22D4_ENST00000496728.1_5'UTR|TSC22D4_ENST00000393991.1_Nonsense_Mutation_p.L7* NM_030935.3 NP_112197.1 Q9Y3Q8 T22D4_HUMAN TSC22 domain family, member 4 246 negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGGAGCACCCAACTCCATCCG 0.637000 16 76 0 0 0.004990 0 0 TMEM151A 256472 broad.mit.edu 37 11 66062081 66062081 + Missense_Mutation SNP G G T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr11:66062081G>T ENST00000327259.4 + 2 508 c.364G>T c.(364-366)Gtg>Ttg p.V122L NM_153266.3 NP_694998.1 Q8N4L1 T151A_HUMAN transmembrane protein 151A 122 integral to membrane central_nervous_system(1)|kidney(4)|lung(6) 11 GCACTGTCACGTGCGGTCCTG 0.697000 3 13 0.004672 0.007728 0.004672 1 0 SRGAP3 9901 broad.mit.edu 37 3 9100091 9100091 + Nonsense_Mutation SNP G G C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr3:9100091G>C ENST00000383836.3 - 7 1294 c.867C>G c.(865-867)taC>taG p.Y289* SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Nonsense_Mutation_p.Y289* NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 289 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) TCTCCAGGTTGTATTCAGCTG 0.547000 T RAF1 pilocytic astrocytoma 4 113 0 0 0.001168 0 0 OR6K2 81448 broad.mit.edu 37 1 158669964 158669964 + Missense_Mutation SNP G G A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr1:158669964G>A ENST00000359610.2 - 1 522 c.479C>T c.(478-480)gCc>gTc p.A160V NM_001005279.1 NP_001005279.1 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, member 2 160 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 46 all_hematologic(112;0.0378) AGAGATCCAGGCAATCTCAGG 0.493000 24 50 0 0 0.003330 0 0 GPR124 25960 broad.mit.edu 37 8 37687465 37687465 + Silent SNP C C G rs137891322 TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr8:37687465C>G ENST00000315215.7 + 6 1014 c.651C>G c.(649-651)ctC>ctG p.L217L GPR124_ENST00000412232.2_Silent_p.L217L Q96PE1 GP124_HUMAN G protein-coupled receptor 124 217 LRRCT. central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) AACACACGCTCTGTGCTTACC 0.662000 4 28 0 0 0.000248 0 0 RINL 126432 broad.mit.edu 37 19 39360303 39360303 + Missense_Mutation SNP C C T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr19:39360303C>T ENST00000340740.3 - 10 1429 c.1042G>A c.(1042-1044)Gaa>Aaa p.E348K RINL_ENST00000591812.1_Missense_Mutation_p.E462K|RINL_ENST00000598904.1_Missense_Mutation_p.E348K NM_001195833.1|NM_198445.3 NP_001182762.1|NP_940847.1 Q6ZS11 RINL_HUMAN Ras and Rab interactor-like 348 VPS9. GTPase activator activity endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2) 17 CAGATGAGTTCCTCGGTCAGC 0.607000 OREG0025454 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 60 0 0 0.000248 0 0 FMNL1 752 broad.mit.edu 37 17 43311087 43311087 + Missense_Mutation SNP G G C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr17:43311087G>C ENST00000331495.3 + 5 810 c.474G>C c.(472-474)caG>caC p.Q158H FMNL1_ENST00000592006.1_3'UTR|FMNL1_ENST00000328118.3_Missense_Mutation_p.Q158H NM_005892.3 NP_005883.2 O95466 FMNL_HUMAN formin-like 1 158 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2) 33 CCTTTGCCCAGTGCTCTGTCA 0.617000 4 49 0 0 0.000248 0 0 ELFN2 114794 broad.mit.edu 37 22 37769903 37769903 + Missense_Mutation SNP C C A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr22:37769903C>A ENST00000402918.1 - 3 2457 c.1672G>T c.(1672-1674)Gac>Tac p.D558Y ELFN2_ENST00000349653.3_Missense_Mutation_p.D558Y|RP1-63G5.5_ENST00000430883.1_RNA NM_052906.3 NP_443138.2 Q5R3F8 LRFN6_HUMAN extracellular leucine-rich repeat and fibronectin type III domain containing 2 558 cell surface|integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) GAGGCCGAGTCCAGCTTGAGA 0.622000 8 71 1.12685e-05 2.12605e-05 0.004482 1 0 VMA21 203547 broad.mit.edu 37 X 150573509 150573509 + Missense_Mutation SNP G G T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chrX:150573509G>T ENST00000330374.6 + 3 390 c.285G>T c.(283-285)tgG>tgT p.W95C VMA21_ENST00000477649.1_3'UTR|VMA21_ENST00000370361.1_Missense_Mutation_p.W150C NM_001017980.3 NP_001017980.1 Q3ZAQ7 VMA21_HUMAN VMA21 vacuolar H+-ATPase homolog (S. cerevisiae) 95 vacuolar proton-transporting V-type ATPase complex assembly COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane|lysosome endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2) 7 CACGACAGTGGCGTGAAGGCA 0.438000 9 32 2.17888e-05 4.06331e-05 0.000443 1 0 PRDM9 56979 broad.mit.edu 37 5 23523430 23523430 + Missense_Mutation SNP G G C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr5:23523430G>C ENST00000296682.3 + 9 1095 c.913G>C c.(913-915)Gtg>Ctg p.V305L NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 305 SET. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 CTATGAGTATGTGGATGGAAA 0.423000 HNSCC(3;0.000094) 8 83 0 0 0.004482 0 0 SAMD9 54809 broad.mit.edu 37 7 92734035 92734035 + Missense_Mutation SNP C C A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr7:92734035C>A ENST00000379958.2 - 3 1645 c.1376G>T c.(1375-1377)cGa>cTa p.R459L NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 459 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) GTTTGCTACTCGGCTTTCTTT 0.378000 6 46 0.00116845 0.00197328 0.001168 1 0 FAM71B 153745 broad.mit.edu 37 5 156593047 156593047 + Missense_Mutation SNP G G C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr5:156593047G>C ENST00000302938.4 - 1 228 c.133C>G c.(133-135)Cca>Gca p.P45A NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 45 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCGAACATTGGTGCATACTTG 0.453000 9 92 0 0 0.004482 0 0 KEAP1 9817 broad.mit.edu 37 19 10610364 10610364 + Missense_Mutation SNP G G A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr19:10610364G>A ENST00000171111.5 - 2 893 c.346C>T c.(346-348)Cgg>Tgg p.R116W KEAP1_ENST00000393623.2_Missense_Mutation_p.R116W NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 116 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) CCCTGCTCCCGCAGCCCGTTG 0.612000 5 37 0 0 0.000602 0 0 HAS2 3037 broad.mit.edu 37 8 122626832 122626832 + Silent SNP G G C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr8:122626832G>C ENST00000303924.4 - 4 1713 c.1176C>G c.(1174-1176)gcC>gcG p.A392A NM_005328.2 NP_005319.1 Q92819 HAS2_HUMAN hyaluronan synthase 2 392 integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1) 38 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) GGATTACTGTGGCAATGAGAA 0.418000 14 101 0 0 0.001855 0 0 ADAM29 11086 broad.mit.edu 37 4 175898063 175898063 + Missense_Mutation SNP G G T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr4:175898063G>T ENST00000359240.3 + 5 2057 c.1387G>T c.(1387-1389)Gat>Tat p.D463Y ADAM29_ENST00000445694.1_Missense_Mutation_p.D463Y|ADAM29_ENST00000514159.1_Missense_Mutation_p.D463Y|ADAM29_ENST00000404450.4_Missense_Mutation_p.D463Y NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 463 Disintegrin. 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) CAATGAATGTGATCTTCCAGA 0.448000 5 74 5.9392e-07 1.19526e-06 0.001168 1 0 FCRL3 115352 broad.mit.edu 37 1 157659641 157659641 + Missense_Mutation SNP A A G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr1:157659641A>G ENST00000368184.3 - 10 2048 c.1757T>C c.(1756-1758)gTc>gCc p.V586A FCRL3_ENST00000368186.5_Missense_Mutation_p.V586A|FCRL3_ENST00000473231.1_5'UTR NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 586 integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) AGCAGCAAGGACGAGGATGCT 0.562000 5 47 0 0 0.001168 0 0 TAF1C 9013 broad.mit.edu 37 16 84212974 84212974 + Missense_Mutation SNP C C T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr16:84212974C>T ENST00000567759.1 - 14 2365 c.2183G>A c.(2182-2184)cGa>cAa p.R728Q TAF1C_ENST00000378541.4_Missense_Mutation_p.R728Q|TAF1C_ENST00000566732.1_Missense_Mutation_p.R702Q|TAF1C_ENST00000341690.6_Missense_Mutation_p.R634Q|TAF1C_ENST00000541676.1_Missense_Mutation_p.R635Q|TAF1C_ENST00000570117.1_Missense_Mutation_p.R396Q NM_005679.3 NP_005670.3 Q15572 TAF1C_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa 728 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 26 GGCAGCCCCTCGGCCTGCCCA 0.706000 5 28 0 0 0.000602 0 0 C2orf53 339779 broad.mit.edu 37 2 27360923 27360923 + Missense_Mutation SNP G G T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr2:27360923G>T ENST00000335524.3 - 3 800 c.275C>A c.(274-276)cCa>cAa p.P92Q NM_178553.3 NP_848648.2 Q53SZ7 CB053_HUMAN chromosome 2 open reading frame 53 92 Pro-rich. cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGGGGAACTTGGGAGAGAGGG 0.572000 5 36 0.000602214 0.00103512 0.000602 1 0 PIGO 84720 broad.mit.edu 37 9 35095173 35095173 + Silent SNP G G A rs139962374 TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr9:35095173G>A ENST00000378617.3 - 2 784 c.390C>T c.(388-390)acC>acT p.T130T PIGO_ENST00000361778.2_Silent_p.T130T|PIGO_ENST00000341666.3_Silent_p.T130T|PIGO_ENST00000298004.5_Silent_p.T130T|PIGO_ENST00000492770.1_5'UTR NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 130 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GCTGCATGGTGGTGGTAGGAG 0.567000 9 56 0 0 0.000443 0 0 POP5 51367 broad.mit.edu 37 12 121018963 121018963 + Missense_Mutation SNP C C G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr12:121018963C>G ENST00000341039.2 - 2 134 c.118G>C c.(118-120)Gtg>Ctg p.V40L POP5_ENST00000357500.4_Missense_Mutation_p.V40L|POP5_ENST00000542776.1_5'UTR NM_198202.1 NP_937845.1 Q969H6 POP5_HUMAN processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae) 40 tRNA processing protein binding|ribonuclease P activity breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 7 all_neural(191;0.077)|Medulloblastoma(191;0.0922) GTTCCGTGCACCCTGGCGATC 0.672000 5 69 0 0 0.001168 0 0 PEG3 5178 broad.mit.edu 37 19 57335782 57335782 + Missense_Mutation SNP G G T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr19:57335782G>T ENST00000326441.9 - 4 605 c.242C>A c.(241-243)aCc>aAc p.T81N ZIM2_ENST00000391708.3_5'UTR|ZIM2_ENST00000221722.5_5'UTR|PEG3_ENST00000423103.2_Missense_Mutation_p.T81N|PEG3_ENST00000593695.1_5'UTR|ZIM2_ENST00000599935.1_5'UTR|PEG3_ENST00000598410.1_5'UTR|ZIM2_ENST00000593711.1_5'UTR|PEG3_ENST00000594706.1_5'UTR|ZIM2_ENST00000601070.1_5'UTR NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 81 SCAN box. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CTCCTCCTTGGTGCGGGTCTC 0.527000 8 68 0.000274275 0.000481727 0.004482 1 0 SNTG1 54212 broad.mit.edu 37 8 51617187 51617187 + Missense_Mutation SNP C C G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr8:51617187C>G ENST00000522124.1 + 16 1727 c.1066C>G c.(1066-1068)Cag>Gag p.Q356E SNTG1_ENST00000517473.1_Missense_Mutation_p.Q356E|SNTG1_ENST00000276467.5_Missense_Mutation_p.Q356E|SNTG1_ENST00000518864.1_Missense_Mutation_p.Q356E NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 356 PH. cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) CCGACGGAAACAGTGCTTCAC 0.552000 4 95 0 0 0.000248 0 0 MYT1L 23040 broad.mit.edu 37 2 1926775 1926775 + Missense_Mutation SNP C C T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr2:1926775C>T ENST00000399161.2 - 10 1513 c.766G>A c.(766-768)Gat>Aat p.D256N MYT1L_ENST00000428368.2_Missense_Mutation_p.D256N NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 256 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) CTAACAACATCACTGTCTAAG 0.413000 12 137 0 0 0.001368 0 0 SNX5 27131 broad.mit.edu 37 20 17934694 17934694 + Missense_Mutation SNP C C T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr20:17934694C>T ENST00000377768.3 - 5 647 c.335G>A c.(334-336)gGt>gAt p.G112D SNX5_ENST00000483485.1_5'UTR|SNX5_ENST00000377759.4_Missense_Mutation_p.G112D NM_152227.1 NP_689413.1 Q9Y5X3 SNX5_HUMAN sorting nexin 5 112 PX. cell communication|pinocytosis|protein transport cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle phosphatidylinositol binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 11 AGACCCTTCACCTTCTCCCAG 0.478000 10 135 0 0 0.000673 0 0 NEK9 91754 broad.mit.edu 37 14 75555296 75555296 + Missense_Mutation SNP G G C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr14:75555296G>C ENST00000238616.5 - 20 2649 c.2491C>G c.(2491-2493)Ctc>Gtc p.L831V NM_033116.4 NP_149107.4 Q8TD19 NEK9_HUMAN NIMA-related kinase 9 831 Interaction with NEK6.|Pro/Ser/Thr-rich. cell division|mitosis mitochondrion|nucleus ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00718) GCTGCACTGAGAGGAGATGGG 0.458000 OREG0022811 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 55 0 0 0.001984 0 0 COL3A1 1281 broad.mit.edu 37 2 189861944 189861944 + Splice_Site SNP G G A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr2:189861944G>A ENST00000304636.3 + 25 1985 c.1815_splice c.e25+1 p.Q605_splice COL3A1_ENST00000317840.5_Splice_Site_p.Q605_splice NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 605 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CTGGCCCTCAGGTACGTAGCT 0.443000 10 61 0 0 0.000673 0 0 UPK1A 11045 broad.mit.edu 37 19 36159427 36159427 + Missense_Mutation SNP G G A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr19:36159427G>A ENST00000222275.2 + 2 156 c.156G>A c.(154-156)atG>atA p.M52I UPK1A_ENST00000379013.2_Missense_Mutation_p.M52I|UPK1A-AS1_ENST00000443196.1_RNA NM_007000.2 NP_008931.1 O00322 UPK1A_HUMAN uroplakin 1A 52 epithelial cell differentiation|protein oligomerization endoplasmic reticulum|integral to membrane monosaccharide binding|protein homodimerization activity breast(1)|large_intestine(4)|lung(2)|stomach(2) 9 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) ACCCACTGATGGGAGTCTCAG 0.567000 7 43 0 0 0.003080 0 0 OR8H1 219469 broad.mit.edu 37 11 56057972 56057972 + Missense_Mutation SNP C C A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr11:56057972C>A ENST00000313022.2 - 1 594 c.567G>T c.(565-567)atG>atT p.M189I NM_001005199.1 NP_001005199.1 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, member 1 189 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M189I(1) NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Esophageal squamous(21;0.00448) CGTATGTGTCCATGCAGGACA 0.428000 11 78 1.08611e-07 2.24184e-07 0.000978 1 0 POLR2J 5439 broad.mit.edu 37 7 102119268 102119268 + Missense_Mutation SNP C C G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr7:102119268C>G ENST00000292614.5 - 1 86 c.40G>C c.(40-42)Gag>Cag p.E14Q POLR2J_ENST00000393794.3_Missense_Mutation_p.E14Q NM_006234.4 NP_006225.1 P52435 RPB11_HUMAN polymerase (RNA) II (DNA directed) polypeptide J, 13.3kDa 14 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|LRR domain binding|protein dimerization activity pancreas(2) 2 TTCTCGCCCTCGAAGAGCAAG 0.692000 OREG0018232 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 30 0 0 0.000248 0 0 DAB2 1601 broad.mit.edu 37 5 39376765 39376765 + Silent SNP C C T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr5:39376765C>T ENST00000320816.6 - 12 2591 c.2124G>A c.(2122-2124)ttG>ttA p.L708L DAB2_ENST00000509337.1_Silent_p.L687L|DAB2_ENST00000339788.6_Silent_p.L490L|DAB2_ENST00000545653.1_Silent_p.L687L NM_001343.3 NP_001334.2 P98082 DAB2_HUMAN Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) 708 Required for interaction with MYO6 (By similarity). cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) TGATCTTGTTCAATAGTTGAT 0.453000 OREG0016586 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 72 0 0 0.003080 0 0 USP29 57663 broad.mit.edu 37 19 57641439 57641439 + Missense_Mutation SNP C C A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr19:57641439C>A ENST00000254181.4 + 4 1850 c.1396C>A c.(1396-1398)Cct>Act p.P466T USP29_ENST00000598197.1_Missense_Mutation_p.P466T NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 466 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AAAACCACTTCCTTTGTCCAT 0.383000 19 68 8.00594e-06 1.54059e-05 0.000958 1 0 AADACL4 343066 broad.mit.edu 37 1 12726279 12726279 + Missense_Mutation SNP C C G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr1:12726279C>G ENST00000376221.1 + 4 757 c.757C>G c.(757-759)Ctg>Gtg p.L253V NM_001013630.1 NP_001013652.1 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 253 integral to membrane carboxylesterase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1) 17 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) GGTGACTTCTCTGTGTAACTA 0.498000 12 144 0 0 0.001855 0 0 SLC18A2 6571 broad.mit.edu 37 10 119003520 119003520 + Missense_Mutation SNP G G C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr10:119003520G>C ENST00000298472.5 + 3 303 c.160G>C c.(160-162)Gag>Cag p.E54Q SLC18A2_ENST00000497497.1_3'UTR NM_003054.4 NP_003045.2 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 2 54 neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16) 29 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) CATTAAGCATGAGAAGAATGC 0.478000 4 32 0 0 0.000248 0 0 ACRC 93953 broad.mit.edu 37 X 70823587 70823587 + Missense_Mutation SNP G G C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chrX:70823587G>C ENST00000373695.1 + 7 997 c.460G>C c.(460-462)Gat>Cat p.D154H ACRC_ENST00000373696.3_Missense_Mutation_p.D154H Q96QF7 ACRC_HUMAN acidic repeat containing 154 Asp/Ser-rich. nucleus autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1) 54 Renal(35;0.156) CGACAACAGTGATGATTCGGA 0.463000 14 110 0 0 0.004007 0 0 CDH17 1015 broad.mit.edu 37 8 95182647 95182647 + Missense_Mutation SNP C C A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr8:95182647C>A ENST00000027335.3 - 9 1168 c.1044G>T c.(1042-1044)gaG>gaT p.E348D CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Missense_Mutation_p.E348D NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 348 Cadherin 4. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) TCTCCTGGACCTCAAATACGG 0.433000 5 76 0.00116845 0.00197328 0.001168 1 0 DMXL2 23312 broad.mit.edu 37 15 51837821 51837821 + Missense_Mutation SNP G G A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr15:51837821G>A ENST00000251076.5 - 8 1176 c.889C>T c.(889-891)Cat>Tat p.H297Y DMXL2_ENST00000543779.2_Missense_Mutation_p.H297Y|DMXL2_ENST00000449909.3_Missense_Mutation_p.H297Y NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 297 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) CTTCCAGCATGAGAAAGGCTG 0.413000 12 104 0 0 0.001368 0 0 CADPS 8618 broad.mit.edu 37 3 62543142 62543142 + Missense_Mutation SNP G G A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr3:62543142G>A ENST00000383710.4 - 10 2040 c.1691C>T c.(1690-1692)gCg>gTg p.A564V CADPS_ENST00000357948.3_Missense_Mutation_p.A564V|CADPS_ENST00000283269.9_Missense_Mutation_p.A564V NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 564 PH. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) CTGAGGCTCCGCTTTCTTCTC 0.537000 16 147 0 0 0.000743 0 0 ANXA6 309 broad.mit.edu 37 5 150501775 150501775 + Missense_Mutation SNP C C T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr5:150501775C>T ENST00000354546.5 - 17 1507 c.1280G>A c.(1279-1281)aGg>aAg p.R427K ANXA6_ENST00000523714.1_Missense_Mutation_p.R395K|ANXA6_ENST00000521512.1_Missense_Mutation_p.R220K|ANXA6_ENST00000356496.5_Missense_Mutation_p.R427K|ANXA6_ENST00000377751.5_Missense_Mutation_p.R84K NM_001155.4 NP_001146.2 P08133 ANXA6_HUMAN annexin A6 427 melanosome calcium ion binding|calcium-dependent phospholipid binding|protein binding endometrium(2)|kidney(1)|lung(9) 12 Medulloblastoma(196;0.0912)|all_hematologic(541;0.208) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAGAATCAGCCTTGCCAGGTC 0.552000 4 15 0 0 0.000248 0 0 RASGEF1C 255426 broad.mit.edu 37 5 179564898 179564898 + Missense_Mutation SNP G G T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr5:179564898G>T ENST00000393371.2 - 1 451 c.155C>A c.(154-156)cCc>cAc p.P52H RASGEF1C_ENST00000361132.4_Missense_Mutation_p.P52H Q8N431 RGF1C_HUMAN RasGEF domain family, member 1C 52 N-terminal Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1) 12 all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GTCGGCTGTGGGCACCAGGTG 0.677000 6 25 8.12818e-05 0.000147038 0.001984 1 0 ZC3H4 23211 broad.mit.edu 37 19 47570385 47570385 + Missense_Mutation SNP G G A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr19:47570385G>A ENST00000253048.5 - 15 3177 c.3140C>T c.(3139-3141)tCt>tTt p.S1047F ZC3H4_ENST00000594019.1_5'UTR NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 1047 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) GAGGATGCGAGACAGAAGTTC 0.706000 4 20 0 0 0.000248 0 0 ZHX3 23051 broad.mit.edu 37 20 39832452 39832452 + Missense_Mutation SNP C C G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr20:39832452C>G ENST00000309060.3 - 4 1520 c.1105G>C c.(1105-1107)Gag>Cag p.E369Q ZHX3_ENST00000540170.1_Missense_Mutation_p.E369Q|ZHX3_ENST00000560361.1_Missense_Mutation_p.E369Q|ZHX3_ENST00000432768.2_Missense_Mutation_p.E369Q|ZHX3_ENST00000559234.1_Missense_Mutation_p.E369Q|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Missense_Mutation_p.E369Q Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 369 Required for homodimerization and interaction with NFYA.|Required for repressor activity. negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) CGGGCATCCTCAATCTCCTCA 0.507000 8 69 0 0 0.003080 0 0 ANGEL2 90806 broad.mit.edu 37 1 213181745 213181745 + Missense_Mutation SNP C C T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr1:213181745C>T ENST00000366962.3 - 3 603 c.449G>A c.(448-450)gGa>gAa p.G150E ANGEL2_ENST00000535388.1_5'UTR|ANGEL2_ENST00000360506.2_5'UTR|ANGEL2_ENST00000540642.1_Missense_Mutation_p.G24E|ANGEL2_ENST00000544555.1_5'UTR NM_144567.3 NP_653168.2 Q5VTE6 ANGE2_HUMAN angel homolog 2 (Drosophila) 150 central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185) ATTTTTGTCTCCTAGGATCTT 0.318000 4 67 0 0 0.000248 0 0 LRP2 4036 broad.mit.edu 37 2 170096037 170096037 + Splice_Site SNP C C A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr2:170096037C>A ENST00000263816.3 - 26 4579 c.4294_splice c.e26+1 p.A1432_splice NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 1432 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CAGCAATTACCTGTAACTTTG 0.423000 13 64 3.35478e-16 7.50165e-16 0.003163 1 0 PFKL 5211 broad.mit.edu 37 21 45738472 45738472 + Silent SNP G G A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr21:45738472G>A ENST00000403390.1 + 11 1197 c.1197G>A c.(1195-1197)gtG>gtA p.V399V PFKL_ENST00000349048.4_Silent_p.V352V P17858 K6PL_HUMAN phosphofructokinase, liver 352 fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Colorectal(79;0.0811) TGGAGTGCGTGCAGATGGTAA 0.697000 6 24 0 0 0.003080 0 0 FYCO1 79443 broad.mit.edu 37 3 46009515 46009515 + Silent SNP C C T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr3:46009515C>T ENST00000296137.2 - 8 1516 c.1311G>A c.(1309-1311)ctG>ctA p.L437L FYCO1_ENST00000535325.1_Silent_p.L437L NM_024513.3 NP_078789.2 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 437 transport integral to membrane metal ion binding|protein binding NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 54 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) CATCCTCTTTCAGCTGAAGCT 0.602000 16 239 0 0 0.003163 0 0 AKAP6 9472 broad.mit.edu 37 14 33292180 33292180 + Missense_Mutation SNP C C T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr14:33292180C>T ENST00000280979.4 + 13 5331 c.5161C>T c.(5161-5163)Cgt>Tgt p.R1721C AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 1721 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) GTTCAGGAAGCGTCTGACTCG 0.458000 5 82 0 0 0.001984 0 0 GEMIN8 54960 broad.mit.edu 37 X 14027091 14027091 + Missense_Mutation SNP C C A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chrX:14027091C>A ENST00000380523.4 - 5 988 c.670G>T c.(670-672)Gac>Tac p.D224Y GEMIN8_ENST00000398355.3_Missense_Mutation_p.D224Y NM_017856.2 NP_060326.1 Q9NWZ8 GEMI8_HUMAN gem (nuclear organelle) associated protein 8 224 spliceosomal snRNP assembly Cajal body|cytoplasm|SMN complex|spliceosomal complex protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 9 CAGTGCTTGTCAAAGCTCAGC 0.602000 11 49 3.86212e-05 7.0128e-05 0.000673 1 0 PARVG 64098 broad.mit.edu 37 22 44602295 44602295 + Missense_Mutation SNP G G T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr22:44602295G>T ENST00000422871.1 + 14 1409 c.985G>T c.(985-987)Gcc>Tcc p.A329S PARVG_ENST00000415224.1_Missense_Mutation_p.A329S|PARVG_ENST00000444313.2_Missense_Mutation_p.A329S NM_001137605.1 NP_001131077.1 Q9HBI0 PARVG_HUMAN parvin, gamma 329 cell-matrix adhesion cytoplasm|cytoskeleton|focal adhesion actin binding endometrium(2)|kidney(1)|large_intestine(4)|lung(10) 17 Ovarian(80;0.024)|all_neural(38;0.0299) GCCCCATGGAGCCCCGAATTG 0.607000 9 40 0.000442599 0.000771753 0.000443 1 0 EIF3L 51386 broad.mit.edu 37 22 38274173 38274173 + Missense_Mutation SNP G G C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr22:38274173G>C ENST00000412331.2 + 11 2152 c.1570G>C c.(1570-1572)Gat>Cat p.D524H EIF3L_ENST00000381683.6_Missense_Mutation_p.D476H|EIF3L_ENST00000406934.1_Missense_Mutation_p.D426H NM_016091.3 NP_057175.1 Q9Y262 EIF3L_HUMAN eukaryotic translation initiation factor 3, subunit L 524 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity p.D524N(1) kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 CTTCTACATTGATAAGGTATG 0.453000 8 62 0 0 0.004482 0 0 FREM1 158326 broad.mit.edu 37 9 14808064 14808064 + Missense_Mutation SNP G G T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr9:14808064G>T ENST00000380881.4 - 18 3780 c.2965C>A c.(2965-2967)Cct>Act p.P989T FREM1_ENST00000422223.2_Missense_Mutation_p.P988T|FREM1_ENST00000380880.3_Missense_Mutation_p.P988T Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 988 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TTCACAAAAGGGCCAGCCTCT 0.483000 14 77 3.27435e-08 6.90617e-08 0.002450 1 0 LBX1 10660 broad.mit.edu 37 10 102987542 102987542 + Missense_Mutation SNP C C G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr10:102987542C>G ENST00000370193.2 - 2 1309 c.331G>C c.(331-333)Gac>Cac p.D111H NM_006562.4 NP_006553.2 P52954 LBX1_HUMAN ladybird homeobox 1 111 muscle organ development sequence-specific DNA binding large_intestine(2)|lung(4)|ovary(1) 7 Colorectal(252;0.234) Epithelial(162;3.22e-09)|all cancers(201;1.79e-07) GTCATACCGTCGCGGCCTGGG 0.612000 5 38 0 0 0.000602 0 0 MUC16 94025 broad.mit.edu 37 19 9047455 9047455 + Silent SNP T T A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr19:9047455T>A ENST00000397910.4 - 5 34379 c.34176A>T c.(34174-34176)ccA>ccT p.P11392P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11394 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 CAGTTATTGTTGGAAAATCTG 0.453000 21 114 0 0 0.001523 0 0 ENPEP 2028 broad.mit.edu 37 4 111474511 111474511 + Missense_Mutation SNP C C G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr4:111474511C>G ENST00000265162.5 + 18 2884 c.2542C>G c.(2542-2544)Cag>Gag p.Q848E NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 848 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) TATTAAAACTCAGGATGTGTT 0.373000 5 80 0 0 0.001168 0 0 TEX15 56154 broad.mit.edu 37 8 30695150 30695150 + Missense_Mutation SNP C C T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr8:30695150C>T ENST00000256246.2 - 3 7575 c.7501G>A c.(7501-7503)Gat>Aat p.D2501N NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 2501 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) AGAGAAACATCAGTTTCTGGG 0.413000 7 68 0 0 0.003080 0 0 UNC13C 440279 broad.mit.edu 37 15 54306933 54306933 + Missense_Mutation SNP G G C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr15:54306933G>C ENST00000545554.1 + 1 1833 c.1833G>C c.(1831-1833)caG>caC p.Q611H UNC13C_ENST00000260323.11_Missense_Mutation_p.Q611H|UNC13C_ENST00000537900.1_Missense_Mutation_p.Q611H Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 611 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GAGGTGTTCAGGGTATCCAAG 0.502000 21 76 0 0 0.001882 0 0 EIF5A 1984 broad.mit.edu 37 17 7214941 7214941 + Missense_Mutation SNP C C G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr17:7214941C>G ENST00000336458.8 + 5 848 c.447C>G c.(445-447)atC>atG p.I149M EIF5A_ENST00000571955.1_Missense_Mutation_p.I149M|EIF5A_ENST00000576930.1_Missense_Mutation_p.I149M|EIF5A_ENST00000416016.2_Missense_Mutation_p.I149M|GPS2_ENST00000391950.3_Intron|EIF5A_ENST00000419711.2_Missense_Mutation_p.I149M|EIF5A_ENST00000572815.1_Missense_Mutation_p.I181M|EIF5A_ENST00000336452.7_Missense_Mutation_p.I179M|EIF5A_ENST00000573542.1_Missense_Mutation_p.I149M NM_001970.4 NP_001961.1 P63241 IF5A1_HUMAN eukaryotic translation initiation factor 5A 149 induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1) 6 CTGTTGCAATCAAGGCCATGG 0.502000 3 44 0 0 0.000248 0 0 DDX21 9188 broad.mit.edu 37 10 70741308 70741308 + Missense_Mutation SNP G G T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr10:70741308G>T ENST00000354185.4 + 14 2151 c.2053G>T c.(2053-2055)Gta>Tta p.V685L NM_001256910.1|NM_004728.3 NP_001243839.1|NP_004719.2 Q9NR30 DDX21_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 21 685 nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 20 TTGCTTTGATGTACCTACCGC 0.308000 7 42 5.4927e-09 1.16359e-08 0.004482 1 0 RRP15 51018 broad.mit.edu 37 1 218504365 218504365 + Missense_Mutation SNP G G T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr1:218504365G>T ENST00000366932.3 + 5 811 c.781G>T c.(781-783)Gac>Tac p.D261Y NM_016052.3 NP_057136.2 Q9Y3B9 RRP15_HUMAN ribosomal RNA processing 15 homolog (S. cerevisiae) 261 mitochondrion|nucleolus protein binding ACBD6/RRP15(2) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 14 all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248) ATCTATGAAAGACTGGGACAA 0.408000 5 26 3.59834e-05 6.58332e-05 0.001168 1 0 CXCL14 9547 broad.mit.edu 37 5 134914167 134914167 + Missense_Mutation SNP C C G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr5:134914167C>G ENST00000337225.5 - 2 627 c.163G>C c.(163-165)Gaa>Caa p.E55Q CXCL14_ENST00000512158.1_Missense_Mutation_p.E43Q|CTC-321K16.1_ENST00000509372.1_RNA NM_004887.4 NP_004878.2 O95715 CXL14_HUMAN chemokine (C-X-C motif) ligand 14 55 cell-cell signaling|chemotaxis|immune response|signal transduction extracellular space|Golgi apparatus chemokine activity large_intestine(2)|lung(2)|prostate(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGCTTCATTTCCAGCTTCTTC 0.587000 9 124 0 0 0.004482 0 0 TULP4 56995 broad.mit.edu 37 6 158923470 158923470 + Missense_Mutation SNP G G T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr6:158923470G>T ENST00000367097.3 + 13 4132 c.2775G>T c.(2773-2775)ttG>ttT p.L925F TULP4_ENST00000367094.2_Intron NM_020245.4 NP_064630.2 Q9NRJ4 TULP4_HUMAN tubby like protein 4 925 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) CTGCCACCTTGAGGCTCACGG 0.677000 6 52 1.12685e-05 2.12605e-05 0.004482 1 0 KRT28 162605 broad.mit.edu 37 17 38955812 38955812 + Missense_Mutation SNP C C A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr17:38955812C>A ENST00000306658.7 - 1 399 c.334G>T c.(334-336)Gct>Tct p.A112S NM_181535.3 NP_853513.2 Q7Z3Y7 K1C28_HUMAN keratin 28 112 Coil 1A.|Rod. cytoplasm|intermediate filament structural molecule activity NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Breast(137;0.000301) TCTAATTCAGCATTTGCCTCC 0.448000 8 117 4.68919e-08 9.76241e-08 0.000673 1 0 MAGEE2 139599 broad.mit.edu 37 X 75004250 75004250 + Nonsense_Mutation SNP G G A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chrX:75004250G>A ENST00000373359.2 - 1 829 c.637C>T c.(637-639)Cag>Tag p.Q213* NM_138703.4 NP_619648.1 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 213 MAGE 1. autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 TTGATCCTCTGAGGCTTATCC 0.507000 8 33 0 0 0.004482 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130220003 130220003 + Silent SNP C C T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chrX:130220003C>T ENST00000276211.5 + 9 1566 c.1221C>T c.(1219-1221)caC>caT p.H407H ARHGAP36_ENST00000370922.1_Silent_p.H395H|ARHGAP36_ENST00000370921.1_Silent_p.H271H NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 407 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 GGATTGATCACTATGTTGCTT 0.448000 31 104 0 0 0.001512 0 0 LSAMP 4045 broad.mit.edu 37 3 115738360 115738360 + Splice_Site SNP A A T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr3:115738360A>T ENST00000490035.1 - 3 1014 c.e3+1 LSAMP_ENST00000539563.1_Splice_Site|LSAMP_ENST00000498645.1_Splice_Site NM_002338.3 NP_002329.2 Q13449 LSAMP_HUMAN limbic system-associated membrane protein cell adhesion|nervous system development anchored to membrane|plasma membrane NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) AGTATTGCTTACCAGTTGGTG 0.458000 6 24 0 0 0.001984 0 0 TRAF6 7189 broad.mit.edu 37 11 36516548 36516548 + Missense_Mutation SNP T T C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr11:36516548T>C ENST00000526995.1 - 5 902 c.656A>G c.(655-657)aAt>aGt p.N219S TRAF6_ENST00000529150.1_5'UTR|TRAF6_ENST00000348124.5_Missense_Mutation_p.N219S NM_004620.3 NP_004611.1 Q9Y4K3 TRAF6_HUMAN TNF receptor-associated factor 6, E3 ubiquitin protein ligase 219 Interaction with TAX1BP1. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1) 27 all_lung(20;0.211) all_hematologic(20;0.107) GAGTATAGTATTGCAGTATTC 0.264000 5 59 0 0 0.001168 0 0 OR10R2 343406 broad.mit.edu 37 1 158450525 158450525 + Silent SNP T T C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr1:158450525T>C ENST00000368152.1 + 1 858 c.858T>C c.(856-858)taT>taC p.Y286Y RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA NM_001004472.1 NP_001004472.1 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, member 2 286 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 41 all_hematologic(112;0.0378) CAGCAAACTATGTGTCCAACA 0.473000 14 50 0 0 0.003163 0 0 FOLH1 2346 broad.mit.edu 37 11 49176011 49176011 + Missense_Mutation SNP G G C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr11:49176011G>C ENST00000340334.7 - 17 1980 c.1612C>G c.(1612-1614)Cac>Gac p.H538D FOLH1_ENST00000356696.3_Missense_Mutation_p.H553D|FOLH1_ENST00000256999.2_Missense_Mutation_p.H553D|FOLH1_ENST00000343844.4_Missense_Mutation_p.H245D|FOLH1_ENST00000533034.1_Missense_Mutation_p.H538D NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 553 NAALADase. proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) TAGACACTGTGATACAGTGGA 0.363000 4 24 0 0 0.000248 0 0 BRMS1L 84312 broad.mit.edu 37 14 36304127 36304127 + Nonsense_Mutation SNP G G T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr14:36304127G>T ENST00000216807.7 + 4 638 c.439G>T c.(439-441)Gag>Tag p.E147* BRMS1L_ENST00000543183.1_Nonsense_Mutation_p.E99* NM_032352.3 NP_115728.2 Q5PSV4 BRM1L_HUMAN breast cancer metastasis-suppressor 1-like 147 regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Breast(36;0.137)|Hepatocellular(127;0.158) Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158) GBM - Glioblastoma multiforme(112;0.0333) CCAGCATTGTGAGGTACTGTC 0.323000 4 20 0.00024832 0.000440951 0.000248 1 0 RASGEF1C 255426 broad.mit.edu 37 5 179564908 179564908 + Missense_Mutation SNP G G C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr5:179564908G>C ENST00000393371.2 - 1 441 c.145C>G c.(145-147)Cac>Gac p.H49D RASGEF1C_ENST00000361132.4_Missense_Mutation_p.H49D Q8N431 RGF1C_HUMAN RasGEF domain family, member 1C 49 N-terminal Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1) 12 all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGCACCAGGTGCTGGATCAGT 0.677000 5 29 0 0 0.000602 0 0 NPVF 64111 broad.mit.edu 37 7 25266592 25266592 + Silent SNP A A G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr7:25266592A>G ENST00000222674.2 - 2 238 c.192T>C c.(190-192)gaT>gaC p.D64D NM_022150.3 NP_071433.3 Q9HCQ7 RFRP_HUMAN neuropeptide VF precursor 64 neuropeptide signaling pathway extracellular region|membrane G-protein coupled receptor activity cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1) 15 TTGGTCCCCAATCTTTTAATT 0.378000 8 101 0 0 0.004482 0 0 SEMA5A 9037 broad.mit.edu 37 5 9237963 9237963 + Missense_Mutation SNP A A C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr5:9237963A>C ENST00000382496.5 - 6 975 c.310T>G c.(310-312)Tgt>Ggt p.C104G NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 104 Sema. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 TTGCTGTAACAGGCCTTTTTG 0.378000 6 54 0 0 0.003080 0 0 FOXB1 27023 broad.mit.edu 37 15 60297753 60297753 + Silent SNP C C T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr15:60297753C>T ENST00000396057.4 + 2 1070 c.591C>T c.(589-591)gcC>gcT p.A197A FOXB1_ENST00000560857.1_Intron NM_012182.2 NP_036314.2 Q99853 FOXB1_HUMAN forkhead box B1 197 axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding central_nervous_system(1)|kidney(1)|lung(3)|ovary(1) 6 TGCCCGCTGCCTACCCGCTCC 0.667000 3 16 0 0 0.004672 0 0 UNC79 57578 broad.mit.edu 37 14 94069648 94069648 + Missense_Mutation SNP G G T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr14:94069648G>T ENST00000553484.1 + 26 3792 c.3638G>T c.(3637-3639)aGa>aTa p.R1213I UNC79_ENST00000393151.2_Missense_Mutation_p.R1213I|UNC79_ENST00000256339.4_Missense_Mutation_p.R1036I|UNC79_ENST00000555664.1_Missense_Mutation_p.R1213I Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1213 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 AAGATCAAGAGAGCTCGCTTT 0.517000 11 91 9.31168e-06 1.78474e-05 0.001855 1 0 EPG5 57724 broad.mit.edu 37 18 43523190 43523190 + Missense_Mutation SNP C C A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr18:43523190C>A ENST00000282041.5 - 9 1914 c.1880G>T c.(1879-1881)gGg>gTg p.G627V NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 627 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 GGTTTCTAACCCCACAGCCAG 0.398000 10 60 0.000442599 0.000771753 0.000443 1 0 SOWAHA 134548 broad.mit.edu 37 5 132149857 132149857 + Missense_Mutation SNP G G C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr5:132149857G>C ENST00000378693.2 + 1 825 c.544G>C c.(544-546)Gcc>Ccc p.A182P NM_175873.4 NP_787069.3 Q2M3V2 ANR43_HUMAN sosondowah ankyrin repeat domain family member A 182 Pro-rich. CGCAGACGCGGCCCCACCGCC 0.756000 4 19 0 0 0.000248 0 0 APOBEC3A 200315 broad.mit.edu 37 22 39355561 39355561 + Missense_Mutation SNP C C A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr22:39355561C>A ENST00000402255.1 + 3 248 c.44C>A c.(43-45)cCa>cAa p.P15Q APOBEC3A_ENST00000249116.2_Missense_Mutation_p.P15Q apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A large_intestine(1)|lung(2)|ovary(1)|skin(1) 5 Melanoma(58;0.04) TTGATGGATCCACACATATTC 0.542000 12 78 5.50884e-06 1.06858e-05 0.001368 1 0 FLT4 2324 broad.mit.edu 37 5 180056988 180056988 + Missense_Mutation SNP C C T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr5:180056988C>T ENST00000261937.6 - 5 709 c.631G>A c.(631-633)Gga>Aga p.G211R FLT4_ENST00000502649.1_Missense_Mutation_p.G211R|FLT4_ENST00000393347.3_Missense_Mutation_p.G211R|FLT4_ENST00000424276.2_5'UTR NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 211 Ig-like C2-type 2. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) TCCTGGTCTCCCCAGGTGGTC 0.642000 6 53 0 0 0.003080 0 0 MACF1 23499 broad.mit.edu 37 1 39927621 39927621 + Missense_Mutation SNP A A G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr1:39927621A>G ENST00000564288.1 + 93 22367 c.21590A>G c.(21589-21591)tAc>tGc p.Y7197C MACF1_ENST00000361689.2_Missense_Mutation_p.Y5138C|MACF1_ENST00000567887.1_Missense_Mutation_p.Y7234C|MACF1_ENST00000289893.4_Missense_Mutation_p.Y5640C|MACF1_ENST00000372915.3_Missense_Mutation_p.Y7096C|MACF1_ENST00000317713.7_Missense_Mutation_p.Y5138C|MACF1_ENST00000539005.1_Missense_Mutation_p.Y5008C|MACF1_ENST00000545844.1_Missense_Mutation_p.Y5138C Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 7096 C-terminal tail (By similarity). cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GGGGATGGTTACATTGATTAT 0.418000 35 92 0 0 0.005524 0 0 KIF1B 23095 broad.mit.edu 37 1 10381774 10381774 + Missense_Mutation SNP G G T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr1:10381774G>T ENST00000377086.1 + 24 2419 c.2217G>T c.(2215-2217)tgG>tgT p.W739C KIF1B_ENST00000377081.1_Missense_Mutation_p.W739C|KIF1B_ENST00000263934.6_Missense_Mutation_p.W693C O60333 KIF1B_HUMAN kinesin family member 1B 739 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) CAGTTCCTTGGACACAGCATG 0.413000 5 57 3.59834e-05 6.58332e-05 0.001168 1 0 LRRC4 64101 broad.mit.edu 37 7 127669922 127669922 + Missense_Mutation SNP C C T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr7:127669922C>T ENST00000249363.3 - 2 1029 c.772G>A c.(772-774)Gag>Aag p.E258K SND1_ENST00000354725.3_Intron NM_022143.4 NP_071426.1 Q9HBW1 LRRC4_HUMAN leucine rich repeat containing 4 258 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2) 26 Lung(243;0.124) GCATTCCGCTCAATCAGGCTG 0.542000 4 54 0 0 0.000248 0 0 PABPC4 8761 broad.mit.edu 37 1 40035545 40035545 + Silent SNP G G A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr1:40035545G>A ENST00000372857.3 - 4 1425 c.633C>T c.(631-633)ttC>ttT p.F211F RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372858.3_Silent_p.F211F|PABPC4_ENST00000372862.3_Silent_p.F211F|PABPC4_ENST00000529216.1_5'UTR|PABPC4_ENST00000372856.3_Silent_p.F211F NM_003819.3 NP_003810.1 Q13310 PABP4_HUMAN poly(A) binding protein, cytoplasmic 4 (inducible form) 211 RRM 3. blood coagulation|RNA catabolic process|RNA processing|translation cytoplasm|ribonucleoprotein complex nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3) 21 Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CAAACTGACTGAATAGCTCTT 0.448000 10 66 0 0 0.000978 0 0 KIF15 56992 broad.mit.edu 37 3 44841922 44841922 + Silent SNP G G C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr3:44841922G>C ENST00000326047.4 + 11 1364 c.1215G>C c.(1213-1215)ctG>ctC p.L405L KIF15_ENST00000425755.1_Silent_p.L40L NM_020242.2 NP_064627.1 Q9NS87 KIF15_HUMAN kinesin family member 15 405 blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) AAAGCTTCCTGACCAGAGGTA 0.478000 3 45 0 0 0.004672 0 0 USP28 57646 broad.mit.edu 37 11 113675622 113675622 + Silent SNP C C T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr11:113675622C>T ENST00000003302.4 - 20 2615 c.2547G>A c.(2545-2547)caG>caA p.Q849Q USP28_ENST00000260188.5_Silent_p.Q817Q|USP28_ENST00000544967.1_Silent_p.Q525Q|USP28_ENST00000545540.1_Silent_p.Q692Q NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 849 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) TATCTGCAAACTGTTCCAGAA 0.458000 4 61 0 0 0.000248 0 0 CADPS2 93664 broad.mit.edu 37 7 122221328 122221328 + Missense_Mutation SNP C C T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr7:122221328C>T ENST00000334010.7 - 7 1661 c.1240G>A c.(1240-1242)Gat>Aat p.D414N CADPS2_ENST00000313070.7_Missense_Mutation_p.D414N|CADPS2_ENST00000449022.2_Missense_Mutation_p.D414N|CADPS2_ENST00000476131.1_5'UTR|CADPS2_ENST00000412584.2_Missense_Mutation_p.D414N NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 414 C2. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 GTGGTGAAATCTCCTTGAGTC 0.433000 6 99 0 0 0.001984 0 0 CUX2 23316 broad.mit.edu 37 12 111779599 111779599 + Missense_Mutation SNP G G T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr12:111779599G>T ENST00000261726.6 + 21 3555 c.3401G>T c.(3400-3402)cGc>cTc p.R1134L NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 1134 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 CTGAAACGTCGCTATGGCCTC 0.652000 16 58 3.32936e-07 6.72837e-07 0.000743 1 0 CLK2 1196 broad.mit.edu 37 1 155237835 155237835 + Missense_Mutation SNP C C G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr1:155237835C>G ENST00000368361.4 - 6 952 c.637G>C c.(637-639)Gag>Cag p.E213Q CLK2_ENST00000355560.4_Missense_Mutation_p.E211Q|CLK2_ENST00000536801.1_Missense_Mutation_p.E213Q|CLK2_ENST00000361168.5_Missense_Mutation_p.E212Q|CLK2_ENST00000497188.1_5'UTR P49760 CLK2_HUMAN CDC-like kinase 2 213 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 22 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TTGATTTTCTCTAGCACGTTG 0.493000 Other conserved DNA damage response genes 11 147 0 0 0.000978 0 0 NAV3 89795 broad.mit.edu 37 12 78400786 78400786 + Nonsense_Mutation SNP C C T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr12:78400786C>T ENST00000397909.2 + 8 1641 c.1468C>T c.(1468-1470)Cag>Tag p.Q490* NAV3_ENST00000536525.2_Nonsense_Mutation_p.Q490*|NAV3_ENST00000266692.7_Nonsense_Mutation_p.Q490*|NAV3_ENST00000228327.6_Nonsense_Mutation_p.Q490* Q8IVL0 NAV3_HUMAN neuron navigator 3 490 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 AGAGAAGGATCAGGTGACAGA 0.408000 HNSCC(70;0.22) 6 59 0 0 0.001984 0 0 SNRK 54861 broad.mit.edu 37 3 43381790 43381790 + Missense_Mutation SNP G G T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr3:43381790G>T ENST00000296088.7 + 5 1047 c.743G>T c.(742-744)cGg>cTg p.R248L SNRK_ENST00000429705.2_Missense_Mutation_p.R248L|SNRK_ENST00000437827.1_Missense_Mutation_p.R42L|SNRK_ENST00000454177.1_Missense_Mutation_p.R248L NM_017719.4 NP_060189.3 Q9NRH2 SNRK_HUMAN SNF related kinase 248 Protein kinase. myeloid cell differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792) CTAATCACACGGATGCTACAG 0.403000 24 130 5.35356e-11 1.17535e-10 0.002780 1 0 DNM1P46 196968 broad.mit.edu 37 15 100340011 100340011 + RNA SNP G G T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr15:100340011G>T ENST00000341853.1 - 0 915 NR_003260.1 CCACGCGAGTGCAGGTTGGAC 0.612000 5 21 0.000602214 0.00103512 0.000602 1 0 LETMD1 25875 broad.mit.edu 37 12 51451898 51451898 + Silent SNP C C T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr12:51451898C>T ENST00000418425.2 + 8 1057 c.1038C>T c.(1036-1038)tcC>tcT p.S346S LETMD1_ENST00000550929.1_Silent_p.S277S|LETMD1_ENST00000547008.1_Silent_p.S209S|LETMD1_ENST00000380123.2_3'UTR|LETMD1_ENST00000552739.1_Silent_p.S216S|LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000262055.4_Silent_p.S333S NM_001243689.1 NP_001230618.1 Q6P1Q0 LTMD1_HUMAN LETM1 domain containing 1 333 LETM1. integral to membrane|mitochondrial outer membrane protein binding central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3) 16 TGCAGATTTCCTGCAGCCTGA 0.403000 10 54 0 0 0.000978 0 0 RIMS2 9699 broad.mit.edu 37 8 105160897 105160897 + Missense_Mutation SNP G G T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr8:105160897G>T ENST00000436393.2 + 23 3450 c.3209G>T c.(3208-3210)aGc>aTc p.S1070I RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000507740.1_Intron Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 499 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) ATGACAAAAAGCACCAGCATC 0.493000 HNSCC(12;0.0054) 6 30 2.0095e-06 3.96158e-06 0.001984 1 0 ZNF407 55628 broad.mit.edu 37 18 72343953 72343953 + Silent SNP G G T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr18:72343953G>T ENST00000299687.5 + 1 978 c.978G>T c.(976-978)acG>acT p.T326T ZNF407_ENST00000309902.6_Silent_p.T326T|ZNF407_ENST00000582337.1_Silent_p.T326T|ZNF407_ENST00000577538.1_Silent_p.T326T NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 326 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) TGGGAAGCACGTTTAAAGATT 0.358000 20 107 3.10358e-05 5.7655e-05 0.002299 1 0 SLC51B 123264 broad.mit.edu 37 15 65345416 65345416 + Missense_Mutation SNP C C A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr15:65345416C>A ENST00000334287.2 + 4 622 c.301C>A c.(301-303)Cca>Aca p.P101T NM_178859.3 NP_849190.2 solute carrier family 51, beta subunit CTCAGAAAAGCCAAACTTGGC 0.463000 12 58 0.00010058 0.000181269 0.001368 1 0 MADD 8567 broad.mit.edu 37 11 47303198 47303198 + Missense_Mutation SNP C C T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr11:47303198C>T ENST00000342922.4 + 8 1720 c.1363C>T c.(1363-1365)Ccc>Tcc p.P455S MADD_ENST00000402799.1_Missense_Mutation_p.P455S|MADD_ENST00000402192.2_Missense_Mutation_p.P455S|MADD_ENST00000349238.3_Missense_Mutation_p.P455S|MADD_ENST00000395336.3_Missense_Mutation_p.P455S|MADD_ENST00000311027.5_Missense_Mutation_p.P455S|MADD_ENST00000395344.3_Missense_Mutation_p.P455S|MADD_ENST00000489415.1_3'UTR|MADD_ENST00000407859.3_Missense_Mutation_p.P455S|MADD_ENST00000406482.1_Missense_Mutation_p.P455S NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 455 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) CCAGGAGATCCCCCTTCTCTT 0.498000 4 48 0 0 0.000248 0 0 TECTB 6975 broad.mit.edu 37 10 114059319 114059319 + Missense_Mutation SNP C C T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr10:114059319C>T ENST00000369422.3 + 8 904 c.904C>T c.(904-906)Cgg>Tgg p.R302W TECTB_ENST00000494328.1_3'UTR NM_058222.1 NP_478129.1 Q96PL2 TECTB_HUMAN tectorin beta 302 anchored to membrane|plasma membrane|proteinaceous extracellular matrix kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 19 Colorectal(252;0.198) Epithelial(162;0.0143)|all cancers(201;0.0242) GCTCTCCCTGCGGAGTAAGCG 0.567000 9 54 0 0 0.004482 0 0 OR2M3 127062 broad.mit.edu 37 1 248366443 248366443 + Missense_Mutation SNP C C T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr1:248366443C>T ENST00000456743.1 + 1 112 c.74C>T c.(73-75)aCc>aTc p.T25I NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CCCACCCACACCTTCCTCTTC 0.512000 6 287 0 0 0.003080 0 0 KNTC1 9735 broad.mit.edu 37 12 123087422 123087422 + Silent SNP G G A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr12:123087422G>A ENST00000333479.7 + 47 5049 c.4872G>A c.(4870-4872)tcG>tcA p.S1624S KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000537348.1_Silent_p.S49S|KNTC1_ENST00000436959.3_5'UTR NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 1624 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding p.S1624S(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) TCTTAATTTCGAAATTAATGA 0.328000 10 82 0 0 0.000978 0 0 KRTAP10-4 386672 broad.mit.edu 37 21 45994036 45994036 + Missense_Mutation SNP C C T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr21:45994036C>T ENST00000400374.3 + 1 431 c.401C>T c.(400-402)tCa>tTa p.S134L TSPEAR_ENST00000323084.4_Intron NM_198687.1 NP_941960.1 P60372 KR104_HUMAN keratin associated protein 10-4 134 36 X 5 AA repeats of C-C-X(3). keratin filament NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1) 18 GGGGATTCTTCATGCTGCCAG 0.647000 11 145 0 0 0.000978 0 0 DSCAM 1826 broad.mit.edu 37 21 41550914 41550914 + Missense_Mutation SNP T T C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr21:41550914T>C ENST00000400454.1 - 15 3364 c.2887A>G c.(2887-2889)Aag>Gag p.K963E NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 963 Fibronectin type-III 1. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) ATCCGGTTCTTGGCGTACATG 0.592000 5 51 0 0 0.000602 0 0 GALNT2 2590 broad.mit.edu 37 1 230401018 230401018 + Missense_Mutation SNP G G A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr1:230401018G>A ENST00000366672.4 + 14 1417 c.1345G>A c.(1345-1347)Gcc>Acc p.A449T GALNT2_ENST00000541865.1_3'UTR|GALNT2_ENST00000543760.1_Missense_Mutation_p.A411T|RP5-956O18.2_ENST00000440729.1_RNA|GALNT2_ENST00000485438.1_3'UTR NM_004481.3 NP_004472.1 Q10471 GALT2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) 449 Ricin B-type lectin. immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) AGCTTTTGGGGCCTTGCAGCA 0.512000 16 183 0 0 0.004007 0 0 MNDA 4332 broad.mit.edu 37 1 158817647 158817647 + Nonsense_Mutation SNP C C T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr1:158817647C>T ENST00000368141.4 + 6 1378 c.1117C>T c.(1117-1119)Caa>Taa p.Q373* NM_002432.1 NP_002423.1 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 373 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) CTTCTGCCTTCAACTGAGAAC 0.443000 29 72 0 0 0.001271 0 0 FAM71D 161142 broad.mit.edu 37 14 67665013 67665013 + Silent SNP C C A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr14:67665013C>A ENST00000556046.1 + 3 359 c.135C>A c.(133-135)ccC>ccA p.P45P Q8N9W8 FA71D_HUMAN family with sequence similarity 71, member D 45 breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1) 13 all_hematologic(31;0.0116) all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012) TATCTCCTCCCATGTTAGAGA 0.398000 5 100 1.23904e-05 2.3196e-05 0.000602 1 0 GPNMB 10457 broad.mit.edu 37 7 23293808 23293808 + Silent SNP C C T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr7:23293808C>T ENST00000258733.4 + 3 539 c.244C>T c.(244-246)Ctg>Ttg p.L82L GPNMB_ENST00000381990.2_Silent_p.L82L|GPNMB_ENST00000409458.3_Silent_p.L82L|GPNMB_ENST00000539136.1_Intron|GPNMB_ENST00000453162.2_Silent_p.L82L Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb 82 negative regulation of cell proliferation melanosome breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2) 41 GBM - Glioblastoma multiforme(13;0.154) GCAGGCGGTCCTGACCAGTGA 0.453000 4 143 0 0 0.000248 0 0 UGT2B11 10720 broad.mit.edu 37 4 70074116 70074116 + Nonsense_Mutation SNP C C A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr4:70074116C>A ENST00000446444.1 - 3 963 c.955G>T c.(955-957)Gaa>Taa p.E319* RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 319 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 TTGGCCCTTTCTGCTGTCATG 0.428000 13 167 7.93312e-07 1.58992e-06 0.002450 1 0 PHACTR4 65979 broad.mit.edu 37 1 28800535 28800535 + Missense_Mutation SNP G G A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr1:28800535G>A ENST00000373839.3 + 7 1554 c.1293G>A c.(1291-1293)atG>atA p.M431I PHACTR4_ENST00000373836.3_Missense_Mutation_p.M441I|PHACTR4_ENST00000493669.1_3'UTR NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 431 Pro-rich. actin binding|protein phosphatase inhibitor activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) CACTTCCCATGACTCCTATTC 0.537000 13 62 0 0 0.001855 0 0 IQCC 55721 broad.mit.edu 37 1 32672206 32672206 + Missense_Mutation SNP G G C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr1:32672206G>C ENST00000537469.1 + 3 570 c.523G>C c.(523-525)Gag>Cag p.E175Q RP4-622L5.7_ENST00000421616.1_RNA|IQCC_ENST00000291358.6_Missense_Mutation_p.E95Q NM_001160042.1 NP_001153514.1 Q4KMZ1 IQCC_HUMAN IQ motif containing C 95 endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) GTCTGAGGGAGAGGCCACCTG 0.537000 8 78 0 0 0.003080 0 0 TFDP3 51270 broad.mit.edu 37 X 132351910 132351910 + Silent SNP C C A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chrX:132351910C>A ENST00000310125.4 - 1 466 c.378G>T c.(376-378)ggG>ggT p.G126G NM_016521.2 NP_057605.3 Q5H9I0 TFDP3_HUMAN transcription factor Dp family, member 3 126 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2) 19 Acute lymphoblastic leukemia(192;0.000127) AGGAAGTGGTCCCTTTCCTCT 0.577000 14 30 2.32078e-09 5.00419e-09 0.003163 1 0 ATP1A2 477 broad.mit.edu 37 1 160104960 160104960 + Missense_Mutation SNP G G T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr1:160104960G>T ENST00000361216.3 + 15 2079 c.1990G>T c.(1990-1992)Ggc>Tgc p.G664C ATP1A2_ENST00000392233.3_Missense_Mutation_p.G664C|ATP1A2_ENST00000472488.1_3'UTR NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 664 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity p.G664S(2) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CGTGGTGCACGGCTCTGACCT 0.597000 12 44 2.27111e-07 4.62847e-07 0.001368 1 0 XXYLT1 152002 broad.mit.edu 37 3 194790681 194790681 + Silent SNP C C A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr3:194790681C>A ENST00000310380.6 - 4 1053 c.945G>T c.(943-945)gtG>gtT p.V315V XXYLT1_ENST00000429994.1_Silent_p.V169V|XXYLT1_ENST00000356740.5_Silent_p.V109V|XXYLT1_ENST00000355729.4_Silent_p.V112V|XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000437101.1_Silent_p.V112V NM_152531.4 NP_689744.3 Q8NBI6 CC021_HUMAN xyloside xylosyltransferase 1 315 integral to membrane transferase activity, transferring glycosyl groups CCAGCTGCTGCACCTGCGCCG 0.662000 9 34 1.12685e-05 2.12605e-05 0.004482 1 0 TLR4 7099 broad.mit.edu 37 9 120470885 120470885 + Nonsense_Mutation SNP C C G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr9:120470885C>G ENST00000355622.6 + 2 239 c.138C>G c.(136-138)taC>taG p.Y46* TLR4_ENST00000394487.4_Nonsense_Mutation_p.Y6*|TLR4_ENST00000472304.1_Intron NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 46 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 TGAATTTCTACAAAATCCCCG 0.448000 7 94 0 0 0.001984 0 0 RP1 6101 broad.mit.edu 37 8 55537716 55537716 + Missense_Mutation SNP G G T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr8:55537716G>T ENST00000220676.1 + 4 1422 c.1274G>T c.(1273-1275)tGg>tTg p.W425L NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 425 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TCTGCTAGTTGGGAGAATGCT 0.458000 8 73 2.74318e-10 5.99528e-10 0.000443 1 0 PDE10A 10846 broad.mit.edu 37 6 165746548 165746548 + Missense_Mutation SNP G G A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr6:165746548G>A ENST00000366882.1 - 23 2460 c.2306C>T c.(2305-2307)tCc>tTc p.S769F PDE10A_ENST00000539869.2_Missense_Mutation_p.S779F|PDE10A_ENST00000354448.4_Missense_Mutation_p.S769F Q9Y233 PDE10_HUMAN phosphodiesterase 10A 769 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) CTGAGCCACGGATGGGGATGA 0.502000 13 107 0 0 0.001855 0 0 BTBD7 55727 broad.mit.edu 37 14 93760232 93760232 + Silent SNP C C G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr14:93760232C>G ENST00000334746.5 - 3 1441 c.1134G>C c.(1132-1134)ctG>ctC p.L378L BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000298896.3_Silent_p.L378L|BTBD7_ENST00000555525.1_Silent_p.L378L|BTBD7_ENST00000393170.2_Silent_p.L47L NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 378 breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) ATTCCAAGAACAGTGCTATGT 0.428000 3 38 0 0 0.004672 0 0 TRPC5 7224 broad.mit.edu 37 X 111195531 111195531 + Missense_Mutation SNP C C A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chrX:111195531C>A ENST00000262839.2 - 2 1036 c.118G>T c.(118-120)Gtg>Ttg p.V40L NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 40 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 CCCTTCTCCACAGCATTGAGG 0.537000 8 26 0.000274275 0.000481727 0.004482 1 0 DBX2 440097 broad.mit.edu 37 12 45410212 45410212 + Nonsense_Mutation SNP C C A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr12:45410212C>A ENST00000332700.6 - 4 1048 c.877G>T c.(877-879)Gag>Tag p.E293* NM_001004329.2 NP_001004329.2 Q6ZNG2 DBX2_HUMAN developing brain homeobox 2 293 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 22 Lung SC(27;0.192) Lung NSC(34;0.142) GBM - Glioblastoma multiforme(48;0.0515) GGAGAATTCTCCCTCCATCTT 0.498000 10 81 4.68919e-08 9.76241e-08 0.000673 1 0 VWF 7450 broad.mit.edu 37 12 6127849 6127849 + Missense_Mutation SNP C C A rs61750113 TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr12:6127849C>A ENST00000261405.5 - 28 4989 c.4735G>T c.(4735-4737)Ggg>Tgg p.G1579W NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 1579 VWFA 2. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) agggccagcccagtgttggtc 0.632000 11 45 4.68919e-08 9.76241e-08 0.000673 1 0 CASC1 55259 broad.mit.edu 37 12 25299993 25299993 + Missense_Mutation SNP C C A rs150934185 TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr12:25299993C>A ENST00000354189.5 - 8 840 c.805G>T c.(805-807)Gtc>Ttc p.V269F CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000545133.1_Missense_Mutation_p.V146F|CASC1_ENST00000395987.3_Missense_Mutation_p.V211F|CASC1_ENST00000395990.2_Missense_Mutation_p.V165F|CASC1_ENST00000320267.9_Missense_Mutation_p.V205F|CASC1_ENST00000537577.1_Missense_Mutation_p.V93F NM_001082972.1 NP_001076441.1 Q6TDU7 CASC1_HUMAN cancer susceptibility candidate 1 205 breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11) OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13) TCTTTAATGACTTTTTCCATA 0.388000 10 86 1.08611e-07 2.24184e-07 0.000978 1 0 NUTM1 256646 broad.mit.edu 37 15 34648999 34648999 + Silent SNP C C T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr15:34648999C>T ENST00000537011.1 + 8 3172 c.2790C>T c.(2788-2790)aaC>aaT p.N930N NUTM1_ENST00000333756.4_Silent_p.N902N|NUTM1_ENST00000438749.3_Silent_p.N920N NUT midline carcinoma, family member 1 AACCTGTCAACATACTAGATG 0.517000 5 50 0 0 0.001168 0 0 DPY19L2 283417 broad.mit.edu 37 12 64041116 64041116 + Missense_Mutation SNP G G T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr12:64041116G>T ENST00000324472.4 - 5 801 c.618C>A c.(616-618)ttC>ttA p.F206L RP11-415I12.3_ENST00000509615.2_RNA NM_173812.4 NP_776173.3 Q6NUT2 D19L2_HUMAN dpy-19-like 2 (C. elegans) 206 multicellular organismal development|spermatid development integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) TTATTCCCATGAATGTGCAAT 0.308000 18 75 0.00152264 0.0025536 0.001523 1 0 GJB4 127534 broad.mit.edu 37 1 35227474 35227474 + Missense_Mutation SNP T T C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr1:35227474T>C ENST00000339480.1 + 2 989 c.619T>C c.(619-621)Tac>Cac p.Y207H RP1-34M23.5_ENST00000542839.1_RNA NM_153212.2 NP_694944.1 Q9NTQ9 CXB4_HUMAN gap junction protein, beta 4, 30.3kDa 207 cell communication connexon complex|integral to membrane gap junction channel activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) TGAAGTCTTCTACCTGGTGGG 0.592000 6 68 0 0 0.003080 0 0 ACSM2A 123876 broad.mit.edu 37 16 20497956 20497956 + Nonsense_Mutation SNP C C T rs143956389 TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr16:20497956C>T ENST00000573854.1 + 14 1804 c.1690C>T c.(1690-1692)Cga>Tga p.R564* ACSM2A_ENST00000575690.1_Nonsense_Mutation_p.R564*|ACSM2A_ENST00000396104.2_Nonsense_Mutation_p.R564*|ACSM2A_ENST00000219054.6_Nonsense_Mutation_p.R564*|ACSM2A_ENST00000417235.2_Nonsense_Mutation_p.R485*|ACSM2A_ENST00000536134.1_Nonsense_Mutation_p.R336* NM_001010845.2 NP_001010845.1 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 2A 564 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 AGCCAAGCTTCGAGACAAGGA 0.458000 13 141 0 0 0.002450 0 0 MAGEA4 4103 broad.mit.edu 37 X 151093075 151093075 + Silent SNP G G A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chrX:151093075G>A ENST00000360243.2 + 3 1206 c.939G>A c.(937-939)gaG>gaA p.E313E MAGEA4_ENST00000370337.4_Silent_p.E313E|MAGEA4_ENST00000276344.2_Silent_p.E313E|MAGEA4_ENST00000393920.1_Silent_p.E313E|MAGEA4_ENST00000393921.1_Silent_p.E313E|MAGEA4_ENST00000370340.3_Silent_p.E313E|MAGEA4_ENST00000370335.1_Silent_p.E313E NM_001011550.1 NP_001011550.1 P43358 MAGA4_HUMAN melanoma antigen family A, 4 313 protein binding breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2) 27 Acute lymphoblastic leukemia(192;6.56e-05) TGTTAGAGGAGGAAGAGGGAG 0.572000 14 36 0 0 0.002450 0 0 HEATR1 55127 broad.mit.edu 37 1 236740143 236740143 + Silent SNP C C G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr1:236740143C>G ENST00000366582.3 - 21 2976 c.2862G>C c.(2860-2862)ctG>ctC p.L954L HEATR1_ENST00000366581.2_Silent_p.L954L NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 954 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) GATCTATTATCAGATAAAACG 0.443000 10 58 0 0 0.000443 0 0 ABCA9 10350 broad.mit.edu 37 17 67014646 67014646 + Missense_Mutation SNP T T C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr17:67014646T>C ENST00000340001.4 - 20 2886 c.2675A>G c.(2674-2676)tAc>tGc p.Y892C ABCA9_ENST00000370732.2_Missense_Mutation_p.Y892C|ABCA9_ENST00000453985.2_Missense_Mutation_p.Y892C NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 892 transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) TTCCCACGGGTAACTTTTCTG 0.388000 8 281 0 0 0.004482 0 0 GJC2 57165 broad.mit.edu 37 1 228345700 228345700 + Missense_Mutation SNP G G A rs149908950 TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr1:228345700G>A ENST00000366714.2 + 2 416 c.241G>A c.(241-243)Gtc>Atc p.V81I NM_020435.3 NP_065168.2 Q5T442 CXG2_HUMAN gap junction protein, gamma 2, 47kDa 81 cell death connexon complex|integral to membrane endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 Prostate(94;0.0405) GCGCTTCTGGGTCTTCCAGAT 0.667000 4 27 0 0 0.000602 0 0 RPL7L1 285855 broad.mit.edu 37 6 42851305 42851305 + Missense_Mutation SNP G G T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr6:42851305G>T ENST00000493763.1 + 3 540 c.237G>T c.(235-237)ttG>ttT p.L79F RPL7L1_ENST00000424341.2_Missense_Mutation_p.L79F|RPL7L1_ENST00000602561.1_Missense_Mutation_p.L79F|RPL7L1_ENST00000304734.5_Missense_Mutation_p.L79F|RPL7L1_ENST00000397415.3_3'UTR NM_198486.2 NP_940888.2 Q6DKI1 RL7L_HUMAN ribosomal protein L7-like 1 79 translation large ribosomal subunit protein binding|structural constituent of ribosome breast(1)|endometrium(1)|large_intestine(1)|lung(3) 6 Colorectal(47;0.196) Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088) CTCATGCCTTGGAATTGCCAG 0.473000 7 47 0.00198382 0.00330408 0.001984 1 0 SLCO4A1 28231 broad.mit.edu 37 20 61299190 61299190 + Missense_Mutation SNP C C A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr20:61299190C>A ENST00000217159.1 + 8 1771 c.1566C>A c.(1564-1566)gaC>gaA p.D522E SLCO4A1_ENST00000470412.1_3'UTR|SLCO4A1_ENST00000370507.1_Missense_Mutation_p.D522E NM_016354.3 NP_057438.3 Q96BD0 SO4A1_HUMAN solute carrier organic anion transporter family, member 4A1 522 Kazal-like. sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2) 21 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;2.33e-06) GCGGCTCGGACGGCCTCATGT 0.652000 11 59 2.27111e-07 4.62847e-07 0.001368 1 0 EPHB3 2049 broad.mit.edu 37 3 184294827 184294827 + Missense_Mutation SNP G G T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr3:184294827G>T ENST00000330394.2 + 5 1662 c.1210G>T c.(1210-1212)Ggc>Tgc p.G404C EIF2B5_ENST00000444495.1_Intron NM_004443.3 NP_004434.2 P54753 EPHB3_HUMAN EPH receptor B3 404 Fibronectin type-III 1. 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) TCGGCAGCTGGGCCTGACGGA 0.627000 27 71 9.86323e-18 2.21579e-17 0.003954 1 0 PRKDC 5591 broad.mit.edu 37 8 48746951 48746951 + Missense_Mutation SNP C C G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr8:48746951C>G ENST00000314191.2 - 60 8011 c.7955G>C c.(7954-7956)aGa>aCa p.R2652T PRKDC_ENST00000338368.3_Missense_Mutation_p.R2652T|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2653 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AAATGAGCTTCTTCCATCTGT 0.582000 Non-homologous end-joining 5 82 0 0 0.000602 0 0 DNMT3A 1788 broad.mit.edu 37 2 25462066 25462066 + Missense_Mutation SNP C C G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr2:25462066C>G ENST00000264709.3 - 20 2678 c.2341G>C c.(2341-2343)Gat>Cat p.D781H DNMT3A_ENST00000402667.1_Missense_Mutation_p.D558H|DNMT3A_ENST00000380746.4_Missense_Mutation_p.D592H|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Missense_Mutation_p.D781H NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 781 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCTTTGGCATCAATCATCACA 0.557000 """Mis, F, N, S""" AML 3 25 0 0 0.000248 0 0 BRWD3 254065 broad.mit.edu 37 X 79978183 79978183 + Missense_Mutation SNP G G C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chrX:79978183G>C ENST00000373275.4 - 17 1970 c.1754C>G c.(1753-1755)cCt>cGt p.P585R NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 585 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 AAATGGAGGAGGCATGAGGTG 0.433000 12 28 0 0 0.000978 0 0 MAML1 9794 broad.mit.edu 37 5 179201778 179201778 + Missense_Mutation SNP C C G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr5:179201778C>G ENST00000292599.3 + 5 3214 c.2951C>G c.(2950-2952)tCt>tGt p.S984C MAML1_ENST00000503050.1_Intron NM_014757.4 NP_055572.1 Q92585 MAML1_HUMAN mastermind-like 1 (Drosophila) 984 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck peptide antigen binding|protein kinase binding|transcription coactivator activity central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 36 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGTGGGCTCTCTAGTGTGGCT 0.612000 4 87 0 0 0.000602 0 0 ANGEL2 90806 broad.mit.edu 37 1 213181770 213181770 + Missense_Mutation SNP C C G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr1:213181770C>G ENST00000366962.3 - 3 578 c.424G>C c.(424-426)Gat>Cat p.D142H ANGEL2_ENST00000535388.1_5'UTR|ANGEL2_ENST00000360506.2_5'UTR|ANGEL2_ENST00000540642.1_Missense_Mutation_p.D16H|ANGEL2_ENST00000544555.1_5'UTR NM_144567.3 NP_653168.2 Q5VTE6 ANGE2_HUMAN angel homolog 2 (Drosophila) 142 central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185) TTTTCTTTATCATGGCTACAT 0.333000 4 62 0 0 0.000248 0 0 IGSF6 10261 broad.mit.edu 37 16 21658803 21658803 + Silent SNP G G T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr16:21658803G>T ENST00000268389.4 - 2 139 c.78C>A c.(76-78)ggC>ggA p.G26G METTL9_ENST00000358154.3_Intron|METTL9_ENST00000396014.4_Intron NM_005849.3 NP_005840.2 O95976 IGSF6_HUMAN immunoglobulin superfamily, member 6 26 cell surface receptor linked signaling pathway|immune response integral to plasma membrane transmembrane receptor activity endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1) 7 GBM - Glioblastoma multiforme(48;0.066) GAGTACAGGCGCCCACAGCAC 0.512000 11 46 3.86212e-05 7.0128e-05 0.000673 1 0 SEMA5A 9037 broad.mit.edu 37 5 9237964 9237964 + Silent SNP G G T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr5:9237964G>T ENST00000382496.5 - 6 974 c.309C>A c.(307-309)gcC>gcA p.A103A NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 103 Sema. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 TGCTGTAACAGGCCTTTTTGG 0.378000 6 54 1.26484e-09 2.73955e-09 0.003080 1 0 MRGPRX4 117196 broad.mit.edu 37 11 18194851 18194851 + Missense_Mutation SNP C C A rs140036768 byFrequency TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr11:18194851C>A ENST00000314254.3 + 1 468 c.48C>A c.(46-48)aaC>aaA p.N16K RP11-113D6.6_ENST00000527671.1_Intron NM_054032.3 NP_473373.2 Q96LA9 MRGX4_HUMAN MAS-related GPR, member X4 16 integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 CACCAATCAACGGACGTGAGG 0.532000 9 137 0.00448238 0.00743983 0.004482 1 0 ACPT 93650 broad.mit.edu 37 19 51298098 51298098 + Missense_Mutation SNP C C G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr19:51298098C>G ENST00000270593.1 + 10 1042 c.1042C>G c.(1042-1044)Ctc>Gtc p.L348V ACPT_ENST00000270594.3_Missense_Mutation_p.L255V NM_033068.2 NP_149059.1 Q9BZG2 PPAT_HUMAN acid phosphatase, testicular 348 integral to membrane acid phosphatase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3) 11 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) GCCCCTGCCTCTCAGCCTCCC 0.677000 20 159 0 0 0.002780 0 0 SNHG14 104472715 broad.mit.edu 37 15 25419980 25419980 + RNA SNP T T C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr15:25419980T>C ENST00000549301.1 + 0 715 SNHG14_ENST00000441592.2_RNA ttggggtccctgacttccctc 0.507000 3 85 0 0 0.004672 0 0 FRYL 285527 broad.mit.edu 37 4 48501637 48501637 + Missense_Mutation SNP T T G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr4:48501637T>G ENST00000358350.4 - 64 9448 c.8844A>C c.(8842-8844)ttA>ttC p.L2948F FRYL_ENST00000503238.1_Missense_Mutation_p.L2948F|FRYL_ENST00000264319.7_Missense_Mutation_p.L338F|FRYL_ENST00000507873.2_Missense_Mutation_p.L338F|FRYL_ENST00000537810.1_Missense_Mutation_p.L2948F NM_015030.1 NP_055845.1 O94915 FRYL_HUMAN FRY-like 2948 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 AATATATATGTAACAGTGTCT 0.433000 4 75 0 0 0.000248 0 0 CLEC16A 23274 broad.mit.edu 37 16 11214550 11214550 + Missense_Mutation SNP A A C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr16:11214550A>C ENST00000409790.1 + 20 2425 c.2195A>C c.(2194-2196)tAc>tCc p.Y732S CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000409552.3_Missense_Mutation_p.Y714S NM_015226.2 NP_056041.1 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 732 p.0?(1) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 GTGGATATTTACCAGATGAGT 0.532000 6 9 0 0 0.001168 0 0 FAM214B 80256 broad.mit.edu 37 9 35107819 35107819 + Silent SNP G G A TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr9:35107819G>A ENST00000378561.1 - 2 3508 c.453C>T c.(451-453)tcC>tcT p.S151S FAM214B_ENST00000488109.2_Silent_p.S151S|FAM214B_ENST00000322813.5_Silent_p.S151S|FAM214B_ENST00000605244.1_Silent_p.S151S|FAM214B_ENST00000603301.1_Silent_p.S151S|FAM214B_ENST00000378554.2_Silent_p.S151S|FAM214B_ENST00000378566.1_Intron|FAM214B_ENST00000378557.1_Silent_p.S151S Q7L5A3 K1539_HUMAN family with sequence similarity 214, member B 151 nucleus AAGTATTGCAGGAAGCATTTG 0.632000 6 65 0 0 0.001984 0 0 SLC18B1 116843 broad.mit.edu 37 6 133093332 133093332 + Missense_Mutation SNP C C G TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr6:133093332C>G ENST00000275227.4 - 11 1195 c.1099G>C c.(1099-1101)Gaa>Caa p.E367Q NM_052831.2 NP_439896.1 Q6NT16 CF192_HUMAN solute carrier family 18, subfamily B, member 1 367 transmembrane transport integral to membrane AATCCCTCTTCAAACCCATTT 0.303000 3 39 0 0 0.004672 0 0 ZAN 7455 broad.mit.edu 37 7 100385562 100385596 + RNA DEL GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT - rs68029369 by1000genomes TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr7:100385562_100385596delGCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT ENST00000542585.1 + 0 7176_7210 ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACATTTGACGGCTTCAGCTACCGCTTGCAAGGCCGCATGACCTATGTTCTGATCA 0.583 7 31 --- --- --- --- PIGB 9488 broad.mit.edu 37 15 55631502 55631503 + Frame_Shift_Ins INS - - T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr15:55631502_55631503insT ENST00000164305.5 + 7 1123_1124 c.832_833insT c.(832-834)tttfs p.F278fs PIGB_ENST00000539642.1_Frame_Shift_Ins_p.F83fs NM_004855.4 NP_004846.4 Q92521 PIGB_HUMAN phosphatidylinositol glycan anchor biosynthesis, class B 278 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane integral to membrane|intrinsic to endoplasmic reticulum membrane glycolipid mannosyltransferase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 11 all cancers(107;0.0255) GATTGATCGTATTTTTTTTGGC 0.282 3 6 --- --- --- --- GAA 2548 broad.mit.edu 37 17 78085790 78085790 + Frame_Shift_Del DEL G G - TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr17:78085790delG ENST00000302262.3 + 12 1864 c.1645delG c.(1645-1647)ggfs p.G550fs GAA_ENST00000390015.3_Frame_Shift_Del_p.G550fs NM_000152.3 NP_000143.2 P10253 LYAG_HUMAN glucosidase, alpha; acid 550 cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) AGGGGTGGTTGGGGGGACCCT 0.672 10 48 --- --- --- --- TPTE 7179 broad.mit.edu 37 21 10944697 10944697 + Frame_Shift_Del DEL A A - TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 375c7a6d-607f-40f4-8e3a-2352150ba073 2c93f910-2aee-45ab-9b50-66d0f1797df3 g.chr21:10944697delA ENST00000298232.7 - 10 850 c.483delT c.(481-483)ttfs p.F161fs TPTE_ENST00000342420.5_Frame_Shift_Del_p.F141fs|TPTE_ENST00000361285.4_Frame_Shift_Del_p.F179fs|TPTE_ENST00000415664.2_5'UTR NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 179 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ACTTAATGTCAAAAAAAATGT 0.299 7 221 --- --- --- ---