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 GPC2 221914 broad.mit.edu 37 7 99774681 99774681 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr7:99774681G>A ENST00000292377.2 - 1 309 c.142C>T c.(142-144)Cta>Tta p.L48L NM_152742.1 NP_689955.1 Q8N158 GPC2_HUMAN glypican 2 48 anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3) 18 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGAGGGATTAGGTTTAAGCTA 0.632000 15 17 0 0 1 0 0 WNT11 7481 broad.mit.edu 37 11 75902877 75902877 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr11:75902877C>T ENST00000322563.3 - 4 745 c.621G>A c.(619-621)atG>atA p.M207I RP11-619A14.2_ENST00000527314.1_RNA NM_004626.2 NP_004617.2 O96014 WNT11_HUMAN wingless-type MMTV integration site family, member 11 207 adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 20 ACTTACACTTCATTTCCAGAG 0.662000 16 41 0 0 1 0 0 KRT73 319101 broad.mit.edu 37 12 53002199 53002199 + Silent SNP T T C TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr12:53002199T>C ENST00000305748.3 - 9 1438 c.1404A>G c.(1402-1404)acA>acG p.T468T RP11-641A6.2_ENST00000551089.1_RNA NM_175068.2 NP_778238.1 Q86Y46 K2C73_HUMAN keratin 73 468 Tail. keratin filament structural molecule activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) AGCCAGCCCCTGTGCCTGCCA 0.617000 20 19 0 0 1 0 0 ITM2B 9445 broad.mit.edu 37 13 48833008 48833008 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr13:48833008C>T ENST00000378565.5 + 5 843 c.640C>T c.(640-642)Cac>Tac p.H214Y ITM2B_ENST00000378549.5_Missense_Mutation_p.H108Y NM_021999.4 NP_068839.1 Q9Y287 ITM2B_HUMAN integral membrane protein 2B 214 BRICHOS. nervous system development Golgi membrane|integral to membrane|nucleus|plasma membrane beta-amyloid binding endometrium(1)|large_intestine(2)|lung(3) 6 all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236) GBM - Glioblastoma multiforme(144;1.97e-06) AAACATTGATCACCTGGGTTT 0.353000 22 13 0 0 1 0 0 C10orf53 282966 broad.mit.edu 37 10 50901852 50901852 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr10:50901852C>T ENST00000374113.3 + 2 177 c.130C>T c.(130-132)Cta>Tta p.L44L C10orf53_ENST00000374112.3_Silent_p.L44L|C10orf53_ENST00000535836.1_Silent_p.L44L|C10orf53_ENST00000374111.3_Silent_p.L44L|CHAT_ENST00000455728.2_3'UTR Q8N6V4 CJ053_HUMAN chromosome 10 open reading frame 53 44 endometrium(1)|lung(6) 7 all_neural(218;0.107) TGAGGTCATCCTAGAGAAGAT 0.468000 28 24 0 0 1 0 0 ZNF343 79175 broad.mit.edu 37 20 2465042 2465042 + Missense_Mutation SNP T T A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr20:2465042T>A ENST00000278772.4 - 6 1052 c.565A>T c.(565-567)Acc>Tcc p.T189S RP4-734P14.4_ENST00000461548.1_Intron NM_024325.4 NP_077301.4 Q6P1L6 ZN343_HUMAN zinc finger protein 343 189 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1) 25 GCCCTTGAGGTTTCTCTCTCC 0.517000 34 30 0 0 1 0 0 TUBAL3 79861 broad.mit.edu 37 10 5442921 5442921 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr10:5442921C>T ENST00000380419.3 - 2 170 c.133G>A c.(133-135)Gaa>Aaa p.E45K TUBAL3_ENST00000479328.1_Missense_Mutation_p.E5K NM_024803.2 NP_079079.1 A6NHL2 TBAL3_HUMAN tubulin, alpha-like 3 45 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3) 25 TTTGCATTTTCCAGCTGATCC 0.493000 54 77 0 0 1 0 0 HPS5 11234 broad.mit.edu 37 11 18309543 18309543 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr11:18309543G>A ENST00000396253.3 - 16 2578 c.2116C>T c.(2116-2118)Cct>Tct p.P706S HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000349215.3_Missense_Mutation_p.P820S|HPS5_ENST00000438420.2_Missense_Mutation_p.P706S NM_007216.3 NP_009147.3 Q9UPZ3 HPS5_HUMAN Hermansky-Pudlak syndrome 5 820 cytosol breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 ATATACACAGGATTGGAACTT 0.353000 Hermansky-Pudlak syndrome 16 20 0 0 1 0 0 SLC29A2 3177 broad.mit.edu 37 11 66130889 66130889 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr11:66130889G>A ENST00000531602.1 + 2 271 c.138G>A c.(136-138)aaG>aaA p.K46K RP11-867G23.8_ENST00000580881.1_Intron|SLC29A2_ENST00000311161.7_3'UTR|SLC29A2_ENST00000357440.2_3'UTR|SLC29A2_ENST00000544554.1_3'UTR|SLC29A2_ENST00000546034.1_3'UTR kidney(1) 1 GGCTGCCAAAGAGCCTGGAGG 0.657000 4 8 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125504852 125504852 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr2:125504852C>T ENST00000431078.1 + 14 2485 c.2121C>T c.(2119-2121)caC>caT p.H707H NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 707 Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) ATGAAAGGCACCCTTACTGGG 0.542000 15 14 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104129342 104129342 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr12:104129342G>A ENST00000388887.2 + 52 5738 c.5534G>A c.(5533-5535)gGa>gAa p.G1845E NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1845 FAS1 6. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 GTGAAATGTGGAGCTGGCAGG 0.527000 11 14 0 0 1 0 0 CASQ1 844 broad.mit.edu 37 1 160160774 160160774 + Missense_Mutation SNP A A C TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:160160774A>C ENST00000368079.3 + 1 490 c.215A>C c.(214-216)gAc>gCc p.D72A CASQ1_ENST00000368078.3_Missense_Mutation_p.D78A NM_001231.4 NP_001222.3 P31415 CASQ1_HUMAN calsequestrin 1 (fast-twitch, skeletal muscle) 78 mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum calcium ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 21 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CCCGAGGATGACAAGGCCTCA 0.527000 18 66 0 0 1 0 0 PHLPP2 23035 broad.mit.edu 37 16 71710379 71710379 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr16:71710379G>A ENST00000393524.2 - 8 2175 c.1442C>T c.(1441-1443)tCc>tTc p.S481F PHLPP2_ENST00000356272.3_Missense_Mutation_p.S481F|PHLPP2_ENST00000568954.1_Missense_Mutation_p.S481F|PHLPP2_ENST00000360429.3_Missense_Mutation_p.S481F|PHLPP2_ENST00000567016.1_Missense_Mutation_p.S516F Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein phosphatase 2 481 cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 GGTCCGAAGGGAAAAGCCACT 0.498000 18 23 0 0 1 0 0 SEPT14 346288 broad.mit.edu 37 7 55872980 55872980 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr7:55872980C>T ENST00000388975.3 - 9 1206 c.1090G>A c.(1090-1092)Gaa>Aaa p.E364K NM_207366.2 NP_997249.2 Q6ZU15 SEP14_HUMAN septin 14 364 cell cycle|cell division septin complex GTP binding|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2) 23 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) AATGTTGCTTCTTTCTCCTTG 0.343000 9 13 0 0 1 0 0 STARD8 9754 broad.mit.edu 37 X 67938434 67938434 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chrX:67938434G>A ENST00000252336.6 + 5 1810 c.1438G>A c.(1438-1440)Gat>Aat p.D480N STARD8_ENST00000374597.3_Missense_Mutation_p.D480N|STARD8_ENST00000374599.3_Missense_Mutation_p.D560N NM_014725.4 NP_055540.2 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain containing 8 480 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 50 TGAACGGCGCGATTCAGGTGT 0.607000 15 0 0 0 1 0 0 HSPA5 3309 broad.mit.edu 37 9 128000509 128000509 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr9:128000509G>A ENST00000324460.6 - 7 1516 c.1313C>T c.(1312-1314)cCa>cTa p.P438L NM_005347.4 NP_005338.1 P11021 GRP78_HUMAN heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) 438 anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1) 23 Antihemophilic Factor(DB00025) TGTGTTCCTTGGAATCAGTTT 0.403000 Prostate(1;0.17) 31 46 0 0 1 0 0 CCDC157 550631 broad.mit.edu 37 22 30772567 30772567 + Missense_Mutation SNP T T C TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr22:30772567T>C ENST00000405659.1 + 12 2801 c.2092T>C c.(2092-2094)Tct>Cct p.S698P CCDC157_ENST00000338306.3_Missense_Mutation_p.S698P|RP1-130H16.16_ENST00000332468.4_RNA Q569K6 CC157_HUMAN coiled-coil domain containing 157 698 central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1) 15 CACATCCCCATCTCGGCAGCC 0.667000 4 254 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38412636 38412636 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr5:38412636C>T ENST00000322350.5 + 11 1726 c.1380C>T c.(1378-1380)atC>atT p.I460I EGFLAM_ENST00000354891.3_Silent_p.I460I|EGFLAM_ENST00000397202.2_5'UTR|EGFLAM_ENST00000336740.6_Silent_p.I226I NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 460 Laminin G-like 1. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) TTGCCATCATCGTAAGTGAGA 0.488000 17 36 0 0 1 0 0 ATF5 22809 broad.mit.edu 37 19 50435781 50435781 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr19:50435781C>T ENST00000423777.2 + 3 658 c.281C>T c.(280-282)aCc>aTc p.T94I CTC-326K19.6_ENST00000451973.1_Intron|ATF5_ENST00000595125.1_Missense_Mutation_p.T94I NM_001193646.1 NP_001180575.1 Q9Y2D1 ATF5_HUMAN activating transcription factor 5 94 regulation of transcription from RNA polymerase II promoter cytoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity NS(1)|endometrium(2)|large_intestine(1)|skin(3) 7 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017) CCTTCCCCAACCCCACCTGAC 0.612000 39 59 0 0 1 0 0 CATSPERB 79820 broad.mit.edu 37 14 92088095 92088095 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr14:92088095C>T ENST00000256343.3 - 19 2273 c.2117G>A c.(2116-2118)aGg>aAg p.R706K NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 706 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) TCGTCCATTCCTTTGCCCAAA 0.373000 21 47 0 0 1 0 0 OR2T4 127074 broad.mit.edu 37 1 248525857 248525857 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:248525857G>A ENST00000366475.1 + 1 975 c.975G>A c.(973-975)agG>agA p.R325R NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 325 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATAGTCTTAGGAATAAGGATG 0.433000 19 87 0 0 1 0 0 OGDHL 55753 broad.mit.edu 37 10 50952118 50952118 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr10:50952118C>T ENST00000374103.4 - 14 1868 c.1783G>A c.(1783-1785)Ggg>Agg p.G595R OGDHL_ENST00000432695.1_Missense_Mutation_p.G386R|OGDHL_ENST00000419399.1_Missense_Mutation_p.G538R NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 595 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 TCAGGGATCCCCGTGGCTGGG 0.587000 33 23 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33173951 33173951 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr2:33173951C>T ENST00000404816.2 + 2 857 c.504C>T c.(502-504)gtC>gtT p.V168V LTBP1_ENST00000354476.3_Silent_p.V168V Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 168 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GGGTCAATGTCTGTGGAGGGC 0.567000 43 67 0 0 1 0 0 THEMIS 387357 broad.mit.edu 37 6 128150743 128150743 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr6:128150743C>T ENST00000368250.1 - 4 848 c.350G>A c.(349-351)aGa>aAa p.R117K THEMIS_ENST00000537166.1_Missense_Mutation_p.R161K|THEMIS_ENST00000368248.2_Missense_Mutation_p.R196K|THEMIS_ENST00000543064.1_Missense_Mutation_p.R196K Q8N1K5 THMS1_HUMAN thymocyte selection associated 196 CABIT 1. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 AGTTCTTGTTCTGTTCTTAGG 0.353000 21 23 0 0 1 0 0 HGD 3081 broad.mit.edu 37 3 120352123 120352123 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr3:120352123C>T ENST00000283871.5 - 13 1518 c.1059G>A c.(1057-1059)aaG>aaA p.K353K NM_000187.3 NP_000178.2 Q93099 HGD_HUMAN homogentisate 1,2-dioxygenase 353 L-phenylalanine catabolic process|tyrosine catabolic process cytosol homogentisate 1,2-dioxygenase activity|metal ion binding cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2) 25 GBM - Glioblastoma multiforme(114;0.158) ACCCACCTTGCTTTGCCTCAT 0.522000 37 63 0 0 1 0 0 TAS2R9 50835 broad.mit.edu 37 12 10962128 10962128 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr12:10962128G>A ENST00000240691.2 - 1 639 c.547C>T c.(547-549)Ctg>Ttg p.L183L NM_023917.2 NP_076406.1 Q9NYW1 TA2R9_HUMAN taste receptor, type 2, member 9 183 sensory perception of taste integral to membrane taste receptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 CCCAGGTTCAGGGTTAACTGT 0.393000 3 3 0 0 1 0 0 ESF1 51575 broad.mit.edu 37 20 13695808 13695808 + Missense_Mutation SNP C C G TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr20:13695808C>G ENST00000202816.1 - 14 2376 c.2269G>C c.(2269-2271)Gtt>Ctt p.V757L NM_001276380.1|NM_016649.3 NP_001263309.1|NP_057733.2 Q9H501 ESF1_HUMAN ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) 757 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1) 31 GCATCGTTAACATTTACCTGC 0.338000 11 6 0 0 1 0 0 UPF3A 65110 broad.mit.edu 37 13 115064450 115064450 + Missense_Mutation SNP G G A rs139333511 byFrequency TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr13:115064450G>A ENST00000375299.3 + 8 1038 c.982G>A c.(982-984)Ggc>Agc p.G328S UPF3A_ENST00000475218.2_3'UTR|UPF3A_ENST00000351487.5_Missense_Mutation_p.G295S NM_023011.3 NP_075387.1 Q9H1J1 REN3A_HUMAN UPF3 regulator of nonsense transcripts homolog A (yeast) 328 mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation cytoplasm|nucleus|plasma membrane nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 16 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2) GCCCATGGAAGGCTCGCTGGA 0.542000 16 10 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 74 126 0 0 1 0 0 ARAP2 116984 broad.mit.edu 37 4 36121276 36121276 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr4:36121276G>A ENST00000303965.4 - 24 4448 c.3959C>T c.(3958-3960)aCc>aTc p.T1320I NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 1320 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 ACTCACTTGGGTGTCTTTCCA 0.289000 3 4 0 0 1 0 0 XKR7 343702 broad.mit.edu 37 20 30556550 30556550 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr20:30556550G>A ENST00000217299.3 + 1 746 c.572G>A c.(571-573)gGc>gAc p.G191D NM_001011718.1 NP_001011718.1 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related family, member 7 191 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CTGCAGCTCGGCCAGGTCTGG 0.697000 10 4 0 0 1 0 0 PELI2 57161 broad.mit.edu 37 14 56763774 56763774 + Missense_Mutation SNP C C T rs138009911 TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr14:56763774C>T ENST00000267460.4 + 6 1439 c.1153C>T c.(1153-1155)Ccg>Tcg p.P385S NM_021255.2 NP_067078.1 Q9HAT8 PELI2_HUMAN pellino E3 ubiquitin protein ligase family member 2 385 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol protein binding kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 22 GTCTCAGATCCCGTTGCCTCA 0.498000 42 48 0 0 1 0 0 GPR3 2827 broad.mit.edu 37 1 27721279 27721279 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:27721279C>T ENST00000374024.3 + 2 1076 c.977C>T c.(976-978)tCc>tTc p.S326F NM_005281.2 NP_005272.1 P46089 GPR3_HUMAN G protein-coupled receptor 3 326 activation of adenylate cyclase activity by G-protein signaling pathway integral to plasma membrane endometrium(3)|lung(3)|ovary(1)|skin(1) 8 Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419) CGATCCCGCTCCCCCAGTGAT 0.532000 86 98 0 0 1 0 0 EXTL3 2137 broad.mit.edu 37 8 28574875 28574875 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr8:28574875C>T ENST00000220562.4 + 3 2201 c.1299C>T c.(1297-1299)atC>atT p.I433I EXTL3_ENST00000523149.1_Silent_p.I49I|EXTL3_ENST00000519886.1_Intron NM_001440.2 NP_001431.1 O43909 EXTL3_HUMAN exostosin-like glycosyltransferase 3 433 integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding p.I433M(1) biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1) 36 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) TCGCCCTCATCATTACCCCCG 0.622000 26 2 0 0 1 0 0 GHR 2690 broad.mit.edu 37 5 42700018 42700018 + Missense_Mutation SNP C C T rs45477803 byFrequency TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr5:42700018C>T ENST00000230882.4 + 6 722 c.532C>T c.(532-534)Cca>Tca p.P178S GHR_ENST00000537449.1_5'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.P156S NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 178 Fibronectin type-III. 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) ATGGGAAGCACCACGCAATGC 0.413000 16 12 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8518129 8518129 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr9:8518129G>A ENST00000381196.4 - 18 1805 c.1262C>T c.(1261-1263)cCg>cTg p.P421L PTPRD_ENST00000537002.1_Missense_Mutation_p.P418L|PTPRD_ENST00000360074.4_Missense_Mutation_p.P408L|PTPRD_ENST00000397611.3_Missense_Mutation_p.P418L|PTPRD_ENST00000486161.1_Missense_Mutation_p.P421L|PTPRD_ENST00000540109.1_Missense_Mutation_p.P421L|PTPRD_ENST00000355233.5_Missense_Mutation_p.P421L|PTPRD_ENST00000397617.3_Missense_Mutation_p.P411L|PTPRD_ENST00000356435.5_Missense_Mutation_p.P421L|PTPRD_ENST00000397606.3_Missense_Mutation_p.P411L|PTPRD_ENST00000358503.5_Missense_Mutation_p.P408L NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 421 Fibronectin type-III 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GACATCCCTCGGGGCACTGGA 0.498000 TSP Lung(15;0.13) 26 30 0 0 1 0 0 C2orf42 54980 broad.mit.edu 37 2 70387814 70387814 + Missense_Mutation SNP G G A rs146789788 TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr2:70387814G>A ENST00000264434.2 - 9 1838 c.1459C>T c.(1459-1461)Cgt>Tgt p.R487C C2orf42_ENST00000420306.1_Missense_Mutation_p.R487C NM_017880.1 NP_060350.1 Q9NWW7 CB042_HUMAN chromosome 2 open reading frame 42 487 endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 12 TTTTCTATACGACCGTAGGTT 0.418000 33 59 0 0 1 0 0 ACVR1B 91 broad.mit.edu 37 12 52377937 52377937 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr12:52377937C>T ENST00000257963.4 + 5 1043 c.966C>T c.(964-966)atC>atT p.I322I ACVR1B_ENST00000563121.1_3'UTR|ACVR1B_ENST00000426655.2_Silent_p.I322I|ACVR1B_ENST00000542485.1_Silent_p.I270I|ACVR1B_ENST00000541224.1_Silent_p.I363I|ACVR1B_ENST00000415850.2_Silent_p.I322I NM_004302.4|NM_020328.3 NP_004293.1|NP_064733.3 P36896 ACV1B_HUMAN activin A receptor, type IB 322 Protein kinase. G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway cell surface activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.104) Adenosine triphosphate(DB00171) ACATGGAGATCGTGGGCACCC 0.522000 16 32 0 0 1 0 0 JADE1 79960 broad.mit.edu 37 4 129752966 129752966 + Splice_Site SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr4:129752966G>A ENST00000226319.6 + 2 332 c.e2+1 PHF17_ENST00000511647.1_Splice_Site|PHF17_ENST00000452328.2_Splice_Site|PHF17_ENST00000512960.1_Splice_Site|PHF17_ENST00000413543.2_Splice_Site NM_199320.2 NP_955352.1 Q6IE81 JADE1_HUMAN apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent histone acetyltransferase complex|mitochondrion protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 GACAATGGCAGTAAGTCCTGC 0.488000 4 201 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24511518 24511518 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr5:24511518C>T ENST00000264463.4 - 6 1427 c.920G>A c.(919-921)cGa>cAa p.R307Q NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 307 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) ATCAATAATTCGGTATTCTAC 0.438000 HNSCC(23;0.051) 50 63 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77369751 77369751 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr16:77369751G>A ENST00000282849.5 - 12 2179 c.1761C>T c.(1759-1761)ccC>ccT p.P587P NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 587 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 GGCCGTGGATGGGCCGGGGCC 0.577000 78 111 0 0 1 0 0 CENPF 1063 broad.mit.edu 37 1 214814357 214814357 + Silent SNP T T C TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:214814357T>C ENST00000366955.3 + 12 2844 c.2676T>C c.(2674-2676)acT>acC p.T892T NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 892 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) AGGAAGACACTTCTGCTCACC 0.398000 17 57 0 0 1 0 0 CFHR1 3078 broad.mit.edu 37 1 196796106 196796106 + Nonsense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:196796106G>A ENST00000320493.5 + 3 489 c.401G>A c.(400-402)tGg>tAg p.W134* CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.3_Nonsense_Mutation_p.W134*|CFHR1_ENST00000498248.1_3'UTR NM_002113.2 NP_002104.2 Q03591 FHR1_HUMAN complement factor H-related 1 134 Sushi 2. complement activation extracellular space NS(1)|kidney(1)|large_intestine(2)|lung(7) 11 GAACGGGGCTGGTCCACCCCT 0.388000 58 5 0 0 1 0 0 CPED1 79974 broad.mit.edu 37 7 120876813 120876813 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr7:120876813C>T ENST00000310396.5 + 17 2568 c.2101C>T c.(2101-2103)Cct>Tct p.P701S CPED1_ENST00000450913.2_Missense_Mutation_p.P701S|CPED1_ENST00000423795.1_Missense_Mutation_p.P481S NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 TGGGTTACAGCCTATTTCTTC 0.358000 3 17 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124358538 124358538 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr10:124358538C>T ENST00000368909.3 + 26 3311 c.3205C>T c.(3205-3207)Ctg>Ttg p.L1069L DMBT1_ENST00000344338.3_Silent_p.L1059L|DMBT1_ENST00000368955.3_Silent_p.L1059L|DMBT1_ENST00000330163.4_Silent_p.L570L|DMBT1_ENST00000368956.2_Silent_p.L570L|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000338354.3_Silent_p.L1069L NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1069 SRCR 8. L -> P (in Ref. 1; CAA04019 and 2; AAD49696). epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CGAGTCTTACCTGTGGAGCTG 0.587000 53 73 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41203238 41203238 + Nonsense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr5:41203238C>T ENST00000263413.3 - 2 359 c.95G>A c.(94-96)tGg>tAg p.W32* C6_ENST00000337836.5_Nonsense_Mutation_p.W32* NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 32 TSP type-1 1. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) GCAGCTGGTCCACTGAGTCCA 0.507000 20 32 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228529149 228529149 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:228529149C>T ENST00000570156.2 + 85 20813 c.20739C>T c.(20737-20739)atC>atT p.I6913I OBSCN_ENST00000284548.11_Silent_p.I5956I|OBSCN_ENST00000422127.1_Silent_p.I5956I|OBSCN_ENST00000366707.4_Silent_p.I3590I|OBSCN_ENST00000366709.4_Silent_p.I3075I NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 5956 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) TGAGCAGCATCGACCTGAACG 0.647000 54 14 0 0 1 0 0 SPINT1 6692 broad.mit.edu 37 15 41148498 41148498 + Missense_Mutation SNP G G T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr15:41148498G>T ENST00000344051.4 + 10 1595 c.1361G>T c.(1360-1362)cGg>cTg p.R454L SPINT1_ENST00000562057.1_Missense_Mutation_p.R438L|SPINT1_ENST00000431806.1_Missense_Mutation_p.R438L O43278 SPIT1_HUMAN serine peptidase inhibitor, Kunitz type 1 454 extracellular region|membrane fraction protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) GGCCTGAGGCGGGAAATCCCC 0.537000 58 77 1.37693e-34 1.41743e-34 1 1 0 OR2L13 284521 broad.mit.edu 37 1 248263372 248263372 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:248263372G>A ENST00000366478.2 + 3 1032 c.695G>A c.(694-696)gGg>gAg p.G232E OR2L13_ENST00000358120.2_Missense_Mutation_p.G232E NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding p.G232E(1) 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) TCAAAGGAGGGGAGAAAAAAG 0.438000 19 71 0 0 1 0 0 MECOM 2122 broad.mit.edu 37 3 168833913 168833913 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr3:168833913C>T ENST00000464456.1 - 7 2383 c.1183G>A c.(1183-1185)Gat>Aat p.D395N MECOM_ENST00000392736.3_Missense_Mutation_p.D395N|MECOM_ENST00000460814.1_Missense_Mutation_p.D395N|MECOM_ENST00000494292.1_Missense_Mutation_p.D583N|MECOM_ENST00000468789.1_Missense_Mutation_p.D395N|MECOM_ENST00000264674.3_Missense_Mutation_p.D460N|MECOM_ENST00000433243.2_Missense_Mutation_p.D396N|MECOM_ENST00000472280.1_Missense_Mutation_p.D396N NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 CTGACATCATCAAGGTCACTA 0.468000 55 29 0 0 1 0 0 EYA4 2070 broad.mit.edu 37 6 133827288 133827288 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr6:133827288G>A ENST00000367895.5 + 14 1700 c.1236G>A c.(1234-1236)atG>atA p.M412I EYA4_ENST00000431403.2_Missense_Mutation_p.M412I|EYA4_ENST00000531901.1_Missense_Mutation_p.M418I|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000430974.2_Missense_Mutation_p.M364I|RP3-323P13.2_ENST00000451017.1_RNA|EYA4_ENST00000355286.6_Missense_Mutation_p.M389I|EYA4_ENST00000452339.2_Missense_Mutation_p.M358I|EYA4_ENST00000355167.3_Missense_Mutation_p.M412I|EYA4_ENST00000525849.1_Missense_Mutation_p.M389I NM_004100.4 NP_004091.3 O95677 EYA4_HUMAN eyes absent homolog 4 (Drosophila) 412 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) TGGAAGAAATGATTTTTAATC 0.353000 14 15 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12336845 12336845 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:12336845C>T ENST00000358136.3 + 19 3330 c.3200C>T c.(3199-3201)tCa>tTa p.S1067L VPS13D_ENST00000356315.4_Missense_Mutation_p.S1067L NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 1067 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) ACTAGTGTTTCACTTGACAAA 0.458000 OREG0013110 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 43 55 0 0 1 0 0 TTBK2 146057 broad.mit.edu 37 15 43038186 43038186 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr15:43038186G>A ENST00000267890.6 - 15 3650 c.3542C>T c.(3541-3543)tCg>tTg p.S1181L NM_173500.3 NP_775771.3 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 1181 Ser-rich. cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) ATGTGGGGACGAACTCCTCTG 0.592000 17 18 0 0 1 0 0 MYB 4602 broad.mit.edu 37 6 135517065 135517065 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr6:135517065C>T ENST00000341911.5 + 9 1327 c.1128C>T c.(1126-1128)atC>atT p.I376I MYB_ENST00000527615.1_Silent_p.I376I|MYB-AS1_ENST00000455534.1_RNA|MYB_ENST00000367814.4_Silent_p.I376I|MYB_ENST00000534121.1_Silent_p.I376I|MYB_ENST00000528774.1_Silent_p.I373I|MYB_ENST00000534044.1_Silent_p.I376I|MYB_ENST00000316528.8_Silent_p.I376I|MYB_ENST00000525369.1_Intron|MYB_ENST00000442647.2_Silent_p.I373I|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000533624.1_Silent_p.I341I NM_001130173.1|NM_001161656.1|NM_001161658.1 NP_001123645.1|NP_001155128.1|NP_001155130.1 P10242 MYB_HUMAN v-myb avian myeloblastosis viral oncogene homolog 376 Leucine-zipper.|Negative regulatory domain (By similarity). blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear matrix DNA binding|protein binding breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221) Lung NSC(302;3.08e-05)|Ovarian(999;0.208) OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117) GGTGCATGATCGTCCACCAGG 0.478000 T NFIB adenoid cystic carcinoma 10 14 0 0 1 0 0 RAC2 5880 broad.mit.edu 37 22 37627401 37627401 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr22:37627401G>A ENST00000249071.6 - 5 439 c.318C>T c.(316-318)ccC>ccT p.P106P RAC2_ENST00000405484.1_Silent_p.P99P|RAC2_ENST00000406508.1_Silent_p.P62P NM_002872.3 NP_002863.1 P15153 RAC2_HUMAN ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) 106 axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity|protein binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1) 12 TGGGTGTGCTGGGGCAGTGGT 0.622000 28 34 0 0 1 0 0 CFI 3426 broad.mit.edu 37 4 110681447 110681447 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr4:110681447C>T ENST00000394634.2 - 6 1069 c.862G>A c.(862-864)Gaa>Aaa p.E288K CFI_ENST00000394635.3_Missense_Mutation_p.E288K|CFI_ENST00000512148.1_Missense_Mutation_p.E288K NM_000204.3 NP_000195.2 P05156 CFAI_HUMAN complement factor I 288 LDL-receptor class A 2. complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) ACTTCATCTTCCCCTGTAATG 0.418000 37 54 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8485307 8485307 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr9:8485307G>A ENST00000381196.4 - 26 3616 c.3073C>T c.(3073-3075)Cat>Tat p.H1025Y PTPRD_ENST00000537002.1_Missense_Mutation_p.H611Y|PTPRD_ENST00000360074.4_Missense_Mutation_p.H1012Y|PTPRD_ENST00000397611.3_Missense_Mutation_p.H611Y|PTPRD_ENST00000486161.1_Missense_Mutation_p.H614Y|PTPRD_ENST00000540109.1_Missense_Mutation_p.H1025Y|PTPRD_ENST00000355233.5_Missense_Mutation_p.H614Y|PTPRD_ENST00000397617.3_Missense_Mutation_p.H604Y|PTPRD_ENST00000356435.5_Missense_Mutation_p.H1025Y|PTPRD_ENST00000397606.3_Missense_Mutation_p.H604Y|PTPRD_ENST00000358503.5_Missense_Mutation_p.H1003Y NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1025 Fibronectin type-III 8. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GCTTTGACATGAAAATTTTTT 0.378000 TSP Lung(15;0.13) 11 12 0 0 1 0 0 FNDC3A 22862 broad.mit.edu 37 13 49772236 49772236 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr13:49772236C>T ENST00000492622.2 + 22 2914 c.2609C>T c.(2608-2610)cCc>cTc p.P870L FNDC3A_ENST00000541916.1_Missense_Mutation_p.P870L|FNDC3A_ENST00000398316.3_Missense_Mutation_p.P814L NM_001079673.1 NP_001073141.1 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 870 Fibronectin type-III 7. Golgi membrane|integral to membrane endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1) 41 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) ATAGAAAATCCCCATTATTCA 0.443000 21 69 0 0 1 0 0 FCRL6 343413 broad.mit.edu 37 1 159778951 159778951 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:159778951G>A ENST00000321935.6 + 5 627 c.541G>A c.(541-543)Gac>Aac p.D181N FCRL6_ENST00000392235.3_Intron|FCRL6_ENST00000368106.3_Missense_Mutation_p.D174N|FCRL6_ENST00000339348.5_Missense_Mutation_p.D174N Q6DN72 FCRL6_HUMAN Fc receptor-like 6 174 Ig-like C2-type 2. integral to membrane NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 24 all_hematologic(112;0.0597) CAAGGAGGGAGACTCTGGGCT 0.627000 62 26 0 0 1 0 0 FGA 2243 broad.mit.edu 37 4 155508759 155508759 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr4:155508759C>T ENST00000302053.3 - 4 493 c.415G>A c.(415-417)Gaa>Aaa p.E139K FGA_ENST00000403106.3_Missense_Mutation_p.E139K NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 139 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) TTCAGGACTTCAATTCTGCTT 0.408000 16 21 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167095139 167095139 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:167095139G>A ENST00000361200.2 + 6 937 c.771G>A c.(769-771)aaG>aaA p.K257K DUSP27_ENST00000443333.1_Silent_p.K257K|DUSP27_ENST00000271385.5_Silent_p.K257K Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 257 Tyrosine-protein phosphatase. protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 CCGTGCGTAAGAAGCGGGCCA 0.582000 27 88 0 0 1 0 0 LDLR 3949 broad.mit.edu 37 19 11211008 11211008 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr19:11211008C>T ENST00000558518.1 + 2 364 c.177C>T c.(175-177)tcC>tcT p.S59S LDLR_ENST00000455727.2_Silent_p.S59S|LDLR_ENST00000535915.1_Silent_p.S59S|LDLR_ENST00000545707.1_Silent_p.S59S|LDLR_ENST00000557933.1_Silent_p.S59S|LDLR_ENST00000558013.1_Silent_p.S59S NM_000527.4|NM_001195798.1 NP_000518.1|NP_001182727.1 P01130 LDLR_HUMAN low density lipoprotein receptor 59 LDL-receptor class A 1. cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity p.?(1) breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) CTGATGAGTCCCAGGAGACGT 0.517000 17 40 0 0 1 0 0 N4BP2 55728 broad.mit.edu 37 4 40121902 40121902 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr4:40121902C>T ENST00000261435.6 + 9 2587 c.2171C>T c.(2170-2172)tCa>tTa p.S724L NM_018177.4 NP_060647.2 Q86UW6 N4BP2_HUMAN NEDD4 binding protein 2 724 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 GAGAGAGTATCACCTAGTACT 0.373000 44 42 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183609333 183609333 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr4:183609333G>A ENST00000511685.1 + 12 2173 c.2050G>A c.(2050-2052)Gac>Aac p.D684N TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.D684N teneurin transmembrane protein 3 ATGTTCTGTGGACTGTGGCTC 0.547000 75 89 0 0 1 0 0 FCN2 2220 broad.mit.edu 37 9 137774391 137774391 + Silent SNP G G T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr9:137774391G>T ENST00000291744.6 + 2 130 c.120G>T c.(118-120)ctG>ctT p.L40L FCN2_ENST00000350339.2_Intron NM_004108.2 NP_004099.2 Q15485 FCN2_HUMAN ficolin (collagen/fibrinogen domain containing lectin) 2 40 complement activation, lectin pathway|opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 20 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07) TGGTGGGCCTGGAGGGCTCTG 0.587000 35 58 1.59932e-28 1.63833e-28 1 1 0 SCIN 85477 broad.mit.edu 37 7 12684210 12684210 + Splice_Site SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr7:12684210G>A ENST00000297029.5 + 13 1862 c.1759_splice c.e13-1 p.E587_splice SCIN_ENST00000519209.1_Splice_Site_p.E340_splice|SCIN_ENST00000445618.2_Splice_Site_p.E340_splice NM_001112706.2 NP_001106177.1 Q9Y6U3 ADSV_HUMAN scinderin 587 Ca(2+)-dependent actin binding. actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation cell cortex|cytoskeleton 1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding p.E587D(2) endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2) 17 UCEC - Uterine corpus endometrioid carcinoma (126;0.195) TTTCCACAGAGGAGTTCTGGA 0.453000 5 6 0 0 1 0 0 PTPRR 5801 broad.mit.edu 37 12 71050488 71050488 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr12:71050488C>T ENST00000283228.2 - 13 2328 c.1876G>A c.(1876-1878)Gat>Aat p.D626N PTPRR_ENST00000440835.2_Missense_Mutation_p.D381N|PTPRR_ENST00000549308.1_Missense_Mutation_p.D381N|PTPRR_ENST00000342084.4_Missense_Mutation_p.D514N|PTPRR_ENST00000537619.2_5'UTR|PTPRR_ENST00000378778.1_Missense_Mutation_p.D420N NM_002849.3 NP_002840.2 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 626 Tyrosine-protein phosphatase. in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) ACTCACCTATCCATACGAAGC 0.468000 18 22 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8518130 8518130 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr9:8518130G>A ENST00000381196.4 - 18 1804 c.1261C>T c.(1261-1263)Ccg>Tcg p.P421S PTPRD_ENST00000537002.1_Missense_Mutation_p.P418S|PTPRD_ENST00000360074.4_Missense_Mutation_p.P408S|PTPRD_ENST00000397611.3_Missense_Mutation_p.P418S|PTPRD_ENST00000486161.1_Missense_Mutation_p.P421S|PTPRD_ENST00000540109.1_Missense_Mutation_p.P421S|PTPRD_ENST00000355233.5_Missense_Mutation_p.P421S|PTPRD_ENST00000397617.3_Missense_Mutation_p.P411S|PTPRD_ENST00000356435.5_Missense_Mutation_p.P421S|PTPRD_ENST00000397606.3_Missense_Mutation_p.P411S|PTPRD_ENST00000358503.5_Missense_Mutation_p.P408S NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 421 Fibronectin type-III 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) ACATCCCTCGGGGCACTGGAT 0.502000 TSP Lung(15;0.13) 24 29 0 0 1 0 0 MTL5 9633 broad.mit.edu 37 11 68518091 68518091 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr11:68518091G>A ENST00000443940.2 - 2 124 c.38C>T c.(37-39)cCc>cTc p.P13L MTL5_ENST00000255087.5_Missense_Mutation_p.P13L|MTL5_ENST00000544963.1_Missense_Mutation_p.P13L Q9Y4I5 MTL5_HUMAN metallothionein-like 5, testis-specific (tesmin) 13 cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis cytoplasm|nucleus|soluble fraction metal ion binding breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 15 Esophageal squamous(3;4.37e-12) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185) CGCATCCTCGGGGCTGGGCAG 0.711000 11 44 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152647630 152647630 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr6:152647630G>A ENST00000367255.5 - 79 15695 c.15094C>T c.(15094-15096)Ctc>Ttc p.L5032F SYNE1_ENST00000448038.1_Missense_Mutation_p.L4961F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L4961F|SYNE1_ENST00000265368.4_Missense_Mutation_p.L5032F|SYNE1_ENST00000341594.5_Missense_Mutation_p.L4779F NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5032 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGGCTTTTGAGATTTTCCTCT 0.502000 HNSCC(10;0.0054) 20 27 0 0 1 0 0 MTHFD1 4522 broad.mit.edu 37 14 64909048 64909048 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr14:64909048C>T ENST00000555709.1 + 21 2451 c.2064C>T c.(2062-2064)tcC>tcT p.S688S MTHFD1_ENST00000216605.7_Silent_p.S744S|MTHFD1_ENST00000545908.1_Silent_p.S744S|CTD-2555O16.2_ENST00000556640.1_RNA NM_005956.3 NP_005947.3 P11586 C1TC_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase 688 Formyltetrahydrofolate synthetase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 30 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) GCCGGTATTCCGGCCTCTGCC 0.507000 44 43 0 0 1 0 0 GPLD1 2822 broad.mit.edu 37 6 24450118 24450118 + Missense_Mutation SNP G G A rs61733858 byFrequency TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr6:24450118G>A ENST00000230036.1 - 15 1455 c.1345C>T c.(1345-1347)Cgg>Tgg p.R449W NM_001503.3 NP_001494.2 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific phospholipase D1 449 extracellular region glycosylphosphatidylinositol phospholipase D activity breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 32 GAGCCAAACCGACCTGAGGGC 0.627000 21 178 0 0 1 0 0 REM1 28954 broad.mit.edu 37 20 30064402 30064402 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr20:30064402C>T ENST00000201979.2 + 2 447 c.154C>T c.(154-156)Ctc>Ttc p.L52F DEFB124_ENST00000481595.1_Intron NM_014012.4 NP_054731.2 O75628 REM1_HUMAN RAS (RAD and GEM)-like GTP-binding 1 52 small GTPase mediated signal transduction membrane calmodulin binding|GTP binding|GTPase activity kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1) 23 all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) ATCAGCCTCCCTCAACCCTCC 0.637000 23 46 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256530 115256530 + Missense_Mutation SNP G G T rs121913254 TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:115256530G>T ENST00000369535.4 - 3 434 c.181C>A c.(181-183)Caa>Aaa p.Q61K NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TACTCTTCTTGTCCAGCTGTA 0.458000 Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 75 131 1.16668e-32 1.19805e-32 1 1 0 SREBF2 6721 broad.mit.edu 37 22 42262864 42262864 + Missense_Mutation SNP G G C TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr22:42262864G>C ENST00000361204.4 + 2 284 c.118G>C c.(118-120)Gga>Cga p.G40R NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 40 Transcriptional activation (acidic). cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 TAATCAAGTGGGAGAGTTCCC 0.448000 58 90 0 0 1 0 0 DGKK 139189 broad.mit.edu 37 X 50163489 50163489 + RNA SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chrX:50163489C>T ENST00000376025.2 - 0 913 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) AGTGATTTTTCGTTGTGGTGT 0.383000 18 2 0 0 1 0 0 MMP7 4316 broad.mit.edu 37 11 102398352 102398352 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr11:102398352C>T ENST00000260227.4 - 3 439 c.387G>A c.(385-387)gtG>gtA p.V129V NM_002423.3 NP_002414.1 P09237 MMP7_HUMAN matrix metallopeptidase 7 (matrilysin, uterine) 129 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0147) AAGCCTTTGACACTAATCGAT 0.438000 94 182 0 0 1 0 0 KRT3 3850 broad.mit.edu 37 12 53189253 53189253 + Missense_Mutation SNP C C G TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr12:53189253C>G ENST00000417996.2 - 1 648 c.574G>C c.(574-576)Ggg>Cgg p.G192R KRT3_ENST00000309505.3_Missense_Mutation_p.G192R NM_057088.2 NP_476429.2 P12035 K2C3_HUMAN keratin 3 192 Head. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23 TTTACTTGCCCAATCTGGGGG 0.532000 47 51 0 0 1 0 0 TANGO2 128989 broad.mit.edu 37 22 20024569 20024569 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr22:20024569C>T ENST00000456048.1 + 1 23 c.23C>T c.(22-24)cCa>cTa p.P8L TANGO2_ENST00000432883.1_Intron|TANGO2_ENST00000434570.2_Missense_Mutation_p.P44L|TANGO2_ENST00000479679.1_Intron|TANGO2_ENST00000420290.2_Intron|TANGO2_ENST00000401833.1_Missense_Mutation_p.P44L|TANGO2_ENST00000401886.1_Intron|TANGO2_ENST00000447208.2_Intron|TANGO2_ENST00000327374.4_Intron|TANGO2_ENST00000398042.2_Intron transport and golgi organization 2 homolog (Drosophila) GCGGGGACTCCAGTCAATGTA 0.602000 41 89 0 0 1 0 0 DNAJC11 55735 broad.mit.edu 37 1 6712908 6712908 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:6712908G>A ENST00000377577.5 - 6 734 c.611C>T c.(610-612)tCg>tTg p.S204L DNAJC11_ENST00000542246.1_Missense_Mutation_p.S166L|DNAJC11_ENST00000377573.5_Missense_Mutation_p.S114L|DNAJC11_ENST00000294401.7_Missense_Mutation_p.S204L|DNAJC11_ENST00000349363.6_Missense_Mutation_p.S166L NM_018198.3 NP_060668.2 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 204 protein folding heat shock protein binding|unfolded protein binding p.S204L(1) NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1) 32 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) TCCCTTTGCCGAAGTTACTCG 0.483000 34 58 0 0 1 0 0 CCND2 894 broad.mit.edu 37 12 4398035 4398035 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr12:4398035C>T ENST00000261254.3 + 4 868 c.599C>T c.(598-600)tCg>tTg p.S200L NM_001759.3 NP_001750.1 P30279 CCND2_HUMAN cyclin D2 200 cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus protein kinase binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 17 all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206) TACCCACCGTCGATGATCGCA 0.552000 T IGL@ """NHL,CLL""" 65 126 0 0 1 0 0 POSTN 10631 broad.mit.edu 37 13 38151929 38151929 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr13:38151929G>A ENST00000379747.4 - 16 2086 c.1969C>T c.(1969-1971)Cgt>Tgt p.R657C POSTN_ENST00000379749.4_Missense_Mutation_p.R657C|POSTN_ENST00000379742.4_Missense_Mutation_p.R657C|POSTN_ENST00000541481.1_Missense_Mutation_p.R657C|POSTN_ENST00000379743.4_Missense_Mutation_p.R657C|POSTN_ENST00000541179.1_Missense_Mutation_p.R657C NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 657 cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) GTGCTACCACGAACAAACTGA 0.318000 11 19 0 0 1 0 0 HSPA5 3309 broad.mit.edu 37 9 128000510 128000510 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr9:128000510G>A ENST00000324460.6 - 7 1515 c.1312C>T c.(1312-1314)Cca>Tca p.P438S NM_005347.4 NP_005338.1 P11021 GRP78_HUMAN heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) 438 anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1) 23 Antihemophilic Factor(DB00025) GTGTTCCTTGGAATCAGTTTG 0.403000 Prostate(1;0.17) 29 45 0 0 1 0 0 TBCB 1155 broad.mit.edu 37 19 36612445 36612445 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr19:36612445C>T ENST00000221855.3 + 4 947 c.372C>T c.(370-372)ttC>ttT p.F124F TBCB_ENST00000589996.1_Silent_p.F124F|TBCB_ENST00000392178.4_3'UTR|TBCB_ENST00000585746.1_Silent_p.F73F|TBCB_ENST00000586868.1_Intron NM_001281.2 NP_001272.2 Q99426 TBCB_HUMAN tubulin folding cofactor B 124 'de novo' posttranslational protein folding|cell differentiation|nervous system development cytoplasm|microtubule protein binding large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 5 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TCCGCTCTTTCCTGAAGCGCA 0.697000 4 6 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 129037112 129037112 + Nonsense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr5:129037112C>T ENST00000274487.4 + 20 3113 c.2968C>T c.(2968-2970)Cga>Tga p.R990* ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 990 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) CCCTTGTTCACGAACTTGTGG 0.458000 36 178 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94088581 94088581 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr14:94088581C>T ENST00000553484.1 + 31 5222 c.5068C>T c.(5068-5070)Ccc>Tcc p.P1690S UNC79_ENST00000393151.2_Missense_Mutation_p.P1668S|UNC79_ENST00000256339.4_Missense_Mutation_p.P1491S|UNC79_ENST00000555664.1_Missense_Mutation_p.P1668S Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1668 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 TGCCTCTTCTCCCTCCGTCCC 0.542000 13 28 0 0 1 0 0 OTOP3 347741 broad.mit.edu 37 17 72943475 72943475 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr17:72943475G>A ENST00000328801.4 + 6 1525 c.1525G>A c.(1525-1527)Gcc>Acc p.A509T NM_178233.1 NP_839947.1 Q7RTS5 OTOP3_HUMAN otopetrin 3 509 integral to membrane|intracellular zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_lung(278;0.151)|Lung NSC(278;0.185) CCTGCAGCGGGCCTCACTGGC 0.617000 52 30 0 0 1 0 0 OR1F2P 26184 broad.mit.edu 37 16 3265907 3265907 + RNA SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr16:3265907G>A ENST00000576468.1 + 0 418 GTCTCATGCAGATGTATTTTA 0.512000 28 43 0 0 1 0 0 CAMK2D 817 broad.mit.edu 37 4 114458517 114458517 + Missense_Mutation SNP C C G TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr4:114458517C>G ENST00000454265.2 - 7 1355 c.497G>C c.(496-498)gGg>gCg p.G166A CAMK2D_ENST00000342666.5_Missense_Mutation_p.G166A|CAMK2D_ENST00000511664.1_Missense_Mutation_p.G166A|CAMK2D_ENST00000514328.1_Missense_Mutation_p.G166A|CAMK2D_ENST00000379773.2_Missense_Mutation_p.G166A|CAMK2D_ENST00000505990.1_Missense_Mutation_p.G166A|CAMK2D_ENST00000394522.3_Missense_Mutation_p.G166A|CAMK2D_ENST00000394526.2_Missense_Mutation_p.G166A|CAMK2D_ENST00000515496.1_Missense_Mutation_p.G166A|CAMK2D_ENST00000508738.1_Missense_Mutation_p.G166A|CAMK2D_ENST00000394524.3_Missense_Mutation_p.G166A|CAMK2D_ENST00000429180.1_Missense_Mutation_p.G166A|CAMK2D_ENST00000296402.5_Missense_Mutation_p.G166A|CAMK2D_ENST00000418639.2_Missense_Mutation_p.G166A Q13557 KCC2D_HUMAN calcium/calmodulin-dependent protein kinase II delta 166 Protein kinase. interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 13 Ovarian(17;0.00369)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000271) CTGCTGGTCCCCTTGAACTTC 0.463000 12 14 0 0 1 0 0 DHCR7 1717 broad.mit.edu 37 11 71152464 71152464 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr11:71152464G>A ENST00000355527.3 - 6 711 c.435C>T c.(433-435)atC>atT p.I145I DHCR7_ENST00000407721.2_Silent_p.I145I NM_001163817.1|NM_001360.2 NP_001157289.1|NP_001351.2 Q9UBM7 DHCR7_HUMAN 7-dehydrocholesterol reductase 145 I -> L (in SLOS). cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane 7-dehydrocholesterol reductase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1) 19 NADH(DB00157) GCAGGCCATTGATCTGATACT 0.552000 Smith-Lemli-Opitz syndrome 12 12 0 0 1 0 0 EFCAB13 124989 broad.mit.edu 37 17 45490198 45490198 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr17:45490198G>A ENST00000331493.2 + 22 2749 c.2338G>A c.(2338-2340)Gat>Aat p.D780N CTD-2026D20.2_ENST00000523101.1_RNA|EFCAB13_ENST00000517484.1_Missense_Mutation_p.D684N NM_152347.4 NP_689560.3 EF-hand calcium binding domain 13 TGGTATACCTGATTTGGAGCA 0.358000 15 17 0 0 1 0 0 KCNJ1 3758 broad.mit.edu 37 11 128709563 128709563 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr11:128709563G>A ENST00000392665.2 - 2 720 c.576C>T c.(574-576)atC>atT p.I192I KCNJ1_ENST00000392664.2_Silent_p.I211I|KCNJ1_ENST00000440599.2_Silent_p.I192I|KCNJ1_ENST00000392666.1_Silent_p.I192I|KCNJ1_ENST00000324036.3_Silent_p.I192I NM_153764.2 NP_722448.1 P48048 IRK1_HUMAN potassium inwardly-rectifying channel, subfamily J, member 1 211 excretion voltage-gated potassium channel complex ATP binding|inward rectifier potassium channel activity breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1) 23 all_hematologic(175;0.0641) all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942) Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124) TAGCCACTCGGATTAGGAGGC 0.478000 21 2 0 0 1 0 0 OR8B2 26595 broad.mit.edu 37 11 124253093 124253093 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr11:124253093G>A ENST00000375013.2 - 1 165 c.147C>T c.(145-147)ttC>ttT p.F49F NM_001005468.1 NP_001005468.1 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, member 2 49 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) AATTTAGACCGAAAAGAGTGA 0.423000 18 3 0 0 1 0 0 SASH3 54440 broad.mit.edu 37 X 128922047 128922047 + Splice_Site SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chrX:128922047G>A ENST00000356892.3 + 2 267 c.e2+1 SASH3_ENST00000476532.1_3'UTR NM_018990.3 NP_061863.1 O75995 SASH3_HUMAN SAM and SH3 domain containing 3 breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 12 GGATGATAACGTGAGTTTCAG 0.577000 17 1 0 0 1 0 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48874117 48874117 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr2:48874117G>A ENST00000394754.1 + 8 3140 c.3026G>A c.(3025-3027)gGa>gAa p.G1009E GTF2A1L_ENST00000430487.2_Missense_Mutation_p.G271E|LHCGR_ENST00000420913.3_Intron|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.G1009E|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.G305E|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.G1009E|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.G962E|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.G1009E NM_172311.2 NP_758515.1 B7ZL16 B7ZL16_HUMAN 962 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4) 91 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AGGATGTATGGATGTGATTCT 0.433000 10 15 0 0 1 0 0 CORO1C 23603 broad.mit.edu 37 12 109041221 109041221 + Silent SNP A A G TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr12:109041221A>G ENST00000261401.3 - 11 1555 c.1383T>C c.(1381-1383)cgT>cgC p.R461R CORO1C_ENST00000541050.1_Silent_p.R461R|CORO1C_ENST00000421578.2_Silent_p.R356R|CORO1C_ENST00000549772.1_Silent_p.R467R|CORO1C_ENST00000420959.2_Silent_p.R514R|CORO1C_ENST00000549384.1_5'UTR NM_001105237.2|NM_001276471.1|NM_014325.2 NP_001098707.1|NP_001263400.1|NP_055140.1 Q9ULV4 COR1C_HUMAN coronin, actin binding protein, 1C 461 actin cytoskeleton organization|phagocytosis|signal transduction actin cytoskeleton actin filament binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4) 24 ACTTGGAAATACGCTCATCTT 0.418000 56 78 0 0 1 0 0 OR4C15 81309 broad.mit.edu 37 11 55321911 55321911 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr11:55321911C>T ENST00000314644.2 + 1 129 c.129C>T c.(127-129)atC>atT p.I43I NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 0 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 TATACATGATCCCTGTTGGAG 0.378000 HNSCC(20;0.049) 45 14 0 0 1 0 0 CASC5 57082 broad.mit.edu 37 15 40917185 40917185 + Nonsense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr15:40917185C>T ENST00000346991.5 + 11 5191 c.4801C>T c.(4801-4803)Caa>Taa p.Q1601* CASC5_ENST00000399668.2_Nonsense_Mutation_p.Q1575* Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 1601 acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) TTTAGCCTTTCAAACTGTTCA 0.338000 24 23 0 0 1 0 0 KLRF1 51348 broad.mit.edu 37 12 9994467 9994467 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr12:9994467G>A ENST00000279544.3 + 4 458 c.394G>A c.(394-396)Gag>Aag p.E132K KLRF1_ENST00000324214.4_Missense_Mutation_p.E82K|KLRF1_ENST00000537723.1_Intron|KLRF1_ENST00000354855.3_Intron NM_016523.1 NP_057607.1 Q9NZS2 KLRF1_HUMAN killer cell lectin-like receptor subfamily F, member 1 132 C-type lectin. cell surface receptor linked signaling pathway integral to plasma membrane MHC class I receptor activity|sugar binding breast(1)|endometrium(2)|large_intestine(4)|lung(6) 13 GTTCTCTAATGAGATGAAAAG 0.328000 4 9 0 0 1 0 0 IRGC 56269 broad.mit.edu 37 19 44224002 44224002 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr19:44224002G>A ENST00000244314.5 + 2 1491 c.1292G>A c.(1291-1293)gGa>gAa p.G431E NM_019612.3 NP_062558.1 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 431 membrane GTP binding|hydrolase activity, acting on acid anhydrides central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2) 25 Prostate(69;0.0435) TCCGGGGAGGGAGGTGGGGAG 0.587000 13 34 0 0 1 0 0 AKAP6 9472 broad.mit.edu 37 14 33290791 33290791 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr14:33290791G>A ENST00000280979.4 + 13 3942 c.3772G>A c.(3772-3774)Gac>Aac p.D1258N AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 1258 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) AAGTAATGAGGACCCTGGTTA 0.438000 11 8 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176679229 176679229 + Nonsense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:176679229C>T ENST00000367662.3 + 11 4732 c.3568C>T c.(3568-3570)Caa>Taa p.Q1190* NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1190 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 ATACTTGGATCAATGGGCTAC 0.453000 39 14 0 0 1 0 0 ACSM4 341392 broad.mit.edu 37 12 7475882 7475882 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr12:7475882G>A ENST00000399422.4 + 8 1226 c.1178G>A c.(1177-1179)gGg>gAg p.G393E NM_001080454.1 NP_001073923.1 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 393 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding endometrium(6)|kidney(1)|lung(14) 21 GGTTCAATGGGGAAAGGAATG 0.388000 4 5 0 0 1 0 0 CHRNA4 1137 broad.mit.edu 37 20 61981222 61981222 + Missense_Mutation SNP T T C TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr20:61981222T>C ENST00000370263.4 - 5 1762 c.1541A>G c.(1540-1542)aAc>aGc p.N514S CHRNA4_ENST00000463705.1_5'UTR NM_000744.6|NM_001256573.1 NP_000735.1|NP_001243502.1 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 (neuronal) 514 B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1) 33 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) CGAGTGGGTGTTGCGAGAGGC 0.682000 5 7 0 0 1 0 0 LIN9 286826 broad.mit.edu 37 1 226453303 226453303 + Missense_Mutation SNP C C G TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:226453303C>G ENST00000328205.5 - 10 1562 c.1017G>C c.(1015-1017)tgG>tgC p.W339C LIN9_ENST00000481685.1_Missense_Mutation_p.W304C|LIN9_ENST00000366801.1_Missense_Mutation_p.W288C NM_173083.3 NP_775106.2 Q5TKA1 LIN9_HUMAN lin-9 homolog (C. elegans) 323 cell cycle|DNA replication nucleoplasm breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.131) TTTTACTTCTCCACGGCGACT 0.323000 25 74 0 0 1 0 0 DOLPP1 57171 broad.mit.edu 37 9 131846956 131846956 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr9:131846956C>T ENST00000372546.4 + 2 118 c.86C>T c.(85-87)tCt>tTt p.S29F DOLPP1_ENST00000406974.3_Missense_Mutation_p.S29F|DOLPP1_ENST00000540102.1_5'UTR NM_020438.4 NP_065171.2 Q86YN1 DOPP1_HUMAN dolichyldiphosphatase 1 29 dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to endoplasmic reticulum membrane dolichyldiphosphatase activity endometrium(3)|kidney(2)|lung(7)|skin(1) 13 GGTGATCTCTCTGGCCACCTC 0.547000 257 336 0 0 1 0 0 GHR 2690 broad.mit.edu 37 5 42718700 42718700 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr5:42718700G>A ENST00000230882.4 + 10 1281 c.1091G>A c.(1090-1092)aGa>aAa p.R364K GHR_ENST00000537449.1_Missense_Mutation_p.R177K|GHR_ENST00000513625.1_3'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.R342K NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 364 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) GACACAGACAGACTTCTAAGC 0.443000 34 31 0 0 1 0 0 CC2D1A 54862 broad.mit.edu 37 19 14034565 14034565 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr19:14034565C>T ENST00000318003.7 + 17 2122 c.1881C>T c.(1879-1881)ttC>ttT p.F627F CC2D1A_ENST00000589606.1_Silent_p.F627F NM_017721.4 NP_060191.3 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 627 positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 27 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) AGCAAGCCTTCGTCCGGGGTC 0.622000 31 50 0 0 1 0 0 NXPH4 11247 broad.mit.edu 37 12 57619168 57619168 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr12:57619168C>T ENST00000349394.5 + 2 740 c.565C>T c.(565-567)Ctg>Ttg p.L189L NXPH4_ENST00000555154.1_3'UTR NM_007224.3 NP_009155.1 O95158 NXPH4_HUMAN neurexophilin 4 189 IV (linker domain). neuropeptide signaling pathway extracellular region NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1) 10 GCTTCCTGGGCTGGGGCCCCC 0.761000 27 42 0 0 1 0 0 DCD 117159 broad.mit.edu 37 12 55038515 55038515 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr12:55038515G>A ENST00000293371.6 - 5 504 c.315C>T c.(313-315)gtC>gtT p.V105V DCD_ENST00000456047.2_3'UTR NM_053283.2 NP_444513.1 P81605 DCD_HUMAN dermcidin 105 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular region protein binding large_intestine(2)|lung(2)|ovary(1)|skin(1) 6 Myeloproliferative disorder(1001;0.0255) CTGAGTCAAGGACGTCTTTAA 0.433000 5 6 0 0 1 0 0 NUP107 57122 broad.mit.edu 37 12 69125034 69125034 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr12:69125034G>A ENST00000229179.4 + 21 2211 c.1879G>A c.(1879-1881)Gaa>Aaa p.E627K NUP107_ENST00000539906.1_Missense_Mutation_p.E598K|NUP107_ENST00000378905.2_Intron NM_020401.2 NP_065134.1 P57740 NU107_HUMAN nucleoporin 107kDa 627 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NUP107/LGR5(2) breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2) 39 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) GTTGGCTAAAGAAGCAGGTAA 0.378000 10 16 0 0 1 0 0 TLDC1 57707 broad.mit.edu 37 16 84529511 84529511 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr16:84529511G>A ENST00000343629.6 - 3 344 c.162C>T c.(160-162)gtC>gtT p.V54V RP11-517C16.4_ENST00000568771.1_RNA|TLDC1_ENST00000535580.1_Silent_p.V27V|TLDC1_ENST00000561807.1_5'UTR NM_020947.3 NP_065998.3 TBC/LysM-associated domain containing 1 GAGCTTCCCCGACGTGGTTCT 0.517000 74 65 0 0 1 0 0 ADCY1 107 broad.mit.edu 37 7 45697426 45697426 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr7:45697426G>A ENST00000297323.7 + 6 1271 c.1249G>A c.(1249-1251)Gac>Aac p.D417N ADCY1_ENST00000432715.1_Missense_Mutation_p.D192N NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 417 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) GTGGCAGTACGACGTGTGGTC 0.617000 13 26 0 0 1 0 0 DYTN 391475 broad.mit.edu 37 2 207527908 207527908 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr2:207527908C>T ENST00000452335.2 - 11 1468 c.1352G>A c.(1351-1353)cGa>cAa p.R451Q NM_001093730.1 NP_001087199.1 A2CJ06 DYTN_HUMAN dystrotelin 451 plasma membrane zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1) 36 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) TTCTGGATTTCGCAGAGCATG 0.473000 6 22 0 0 1 0 0 HGD 3081 broad.mit.edu 37 3 120347258 120347258 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr3:120347258G>A ENST00000283871.5 - 14 1766 c.1307C>T c.(1306-1308)cCc>cTc p.P436L NM_000187.3 NP_000178.2 Q93099 HGD_HUMAN homogentisate 1,2-dioxygenase 436 L-phenylalanine catabolic process|tyrosine catabolic process cytosol homogentisate 1,2-dioxygenase activity|metal ion binding cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2) 25 GBM - Glioblastoma multiforme(114;0.158) CCTGGAGTTGGGAGTGAAGTG 0.468000 19 43 0 0 1 0 0 KIAA2018 205717 broad.mit.edu 37 3 113377503 113377503 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr3:113377503G>A ENST00000316407.4 - 7 3436 c.3026C>T c.(3025-3027)tCt>tTt p.S1009F KIAA2018_ENST00000478658.1_Missense_Mutation_p.S1009F|KIAA2018_ENST00000491165.1_Intron NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 1009 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 AGCAAGATCAGATAGCAATGT 0.363000 27 24 0 0 1 0 0 OR4C12 283093 broad.mit.edu 37 11 50004013 50004013 + Missense_Mutation SNP C C T rs142499788 TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr11:50004013C>T ENST00000335238.4 - 1 58 c.25G>A c.(25-27)Gaa>Aaa p.E9K NM_001005270.2 NP_001005270.1 Q96R67 OR4CC_HUMAN olfactory receptor, family 4, subfamily C, member 12 9 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E9K(1) NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 36 AAAATGAATTCAGTCACATTC 0.343000 11 12 0 0 1 0 0 FRS3 10817 broad.mit.edu 37 6 41743232 41743232 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr6:41743232G>A ENST00000373018.3 - 4 429 c.178C>T c.(178-180)Ctc>Ttc p.L60F FRS3_ENST00000259748.2_Missense_Mutation_p.L60F NM_006653.3 NP_006644.1 O43559 FRS3_HUMAN fibroblast growth factor receptor substrate 3 60 IRS-type PTB. fibroblast growth factor receptor signaling pathway plasma membrane fibroblast growth factor receptor binding|insulin receptor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CGCAAGCAGAGATAAGGCCAG 0.637000 33 12 0 0 1 0 0 OR4K5 79317 broad.mit.edu 37 14 20389662 20389662 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr14:20389662G>A ENST00000315915.4 + 1 922 c.897G>A c.(895-897)agG>agA p.R299R NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 299 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTGCCGTAAGGAAAATTGTGA 0.383000 9 15 0 0 1 0 0 RREB1 6239 broad.mit.edu 37 6 7229400 7229400 + Silent SNP C C T rs139799223 TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr6:7229400C>T ENST00000379938.2 + 10 1605 c.1068C>T c.(1066-1068)gaC>gaT p.D356D RREB1_ENST00000379933.3_Silent_p.D356D|RREB1_ENST00000334984.6_Silent_p.D356D|RREB1_ENST00000349384.6_Silent_p.D356D NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 356 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) TGCCTGGTGACGCCCTGGACC 0.662000 10 68 0 0 1 0 0 KIF1C 10749 broad.mit.edu 37 17 4907163 4907163 + Missense_Mutation SNP T T G TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr17:4907163T>G ENST00000320785.5 + 10 1173 c.816T>G c.(814-816)aaT>aaG p.N272K NM_006612.5 NP_006603.2 O43896 KIF1C_HUMAN kinesin family member 1C 272 Kinesin-motor. microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3) 30 CCAACATCAATAAGTCCCTGA 0.532000 4 52 0 0 1 0 0 NUP210 23225 broad.mit.edu 37 3 13364838 13364838 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr3:13364838G>A ENST00000254508.5 - 34 4821 c.4739C>T c.(4738-4740)gCc>gTc p.A1580V NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 1580 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) GTCTCCCACGGCAACAATCAC 0.587000 47 71 0 0 1 0 0 OVGP1 5016 broad.mit.edu 37 1 111957591 111957591 + Missense_Mutation SNP G G A rs3835606 TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:111957591G>A ENST00000369732.3 - 11 1587 c.1532C>T c.(1531-1533)tCt>tTt p.S511F NM_002557.3 NP_002548.3 Q12889 OVGP1_HUMAN oviductal glycoprotein 1, 120kDa 511 S -> P (in Ref. 2; AAB04126). chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 39 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) ATAACCCACAGAGGTCAGGGT 0.567000 16 10 0 0 1 0 0 PRB4 5545 broad.mit.edu 37 12 11462314 11462314 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr12:11462314G>A ENST00000279575.1 - 2 123 c.90C>T c.(88-90)ttC>ttT p.F30F PRB4_ENST00000535904.1_Silent_p.F30F|PRB4_ENST00000445719.2_Silent_p.F30F NM_001261399.1|NM_002723.4 NP_001248328.1|NP_002714.2 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 30 extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3) 30 CTGATATTAGGAAGAGAGATT 0.383000 HNSCC(22;0.051) 50 69 0 0 1 0 0 CATSPERD 257062 broad.mit.edu 37 19 5757877 5757877 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr19:5757877C>T ENST00000381624.3 + 14 1363 c.1302C>T c.(1300-1302)tcC>tcT p.S434S CATSPERD_ENST00000381614.2_Silent_p.S92S|CATSPERD_ENST00000309164.7_3'UTR NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 434 integral to membrane ACCCCCACTCCCTGGGGTTCC 0.612000 18 42 0 0 1 0 0 TBL2 26608 broad.mit.edu 37 7 72987698 72987698 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr7:72987698G>A ENST00000305632.5 - 4 791 c.550C>T c.(550-552)Cct>Tct p.P184S TBL2_ENST00000432538.1_Missense_Mutation_p.P148S|TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000452475.1_Missense_Mutation_p.P184S NM_012453.2 NP_036585.1 Q9Y4P3 TBL2_HUMAN transducin (beta)-like 2 184 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 19 Lung NSC(55;0.0659)|all_lung(88;0.152) TGCTTTTTAGGGAAGTCCTCT 0.562000 24 36 0 0 1 0 0 ITK 3702 broad.mit.edu 37 5 156672894 156672894 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr5:156672894C>T ENST00000422843.3 + 15 1670 c.1518C>T c.(1516-1518)ttC>ttT p.F506F ITK_ENST00000519749.1_3'UTR NM_005546.3 NP_005537.3 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 506 Protein kinase. cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTCCCAGGTTCGTTCTGGATG 0.537000 T SYK peripheral T-cell lymphoma 48 5 0 0 1 0 0 POPDC3 64208 broad.mit.edu 37 6 105609453 105609453 + Nonsense_Mutation SNP A A T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr6:105609453A>T ENST00000254765.3 - 2 610 c.332T>A c.(331-333)tTg>tAg p.L111* BVES-AS1_ENST00000369122.3_RNA|POPDC3_ENST00000474760.1_Intron|BVES-AS1_ENST00000580854.1_RNA|BVES-AS1_ENST00000580511.1_RNA NM_022361.4 NP_071756.2 Q9HBV1 POPD3_HUMAN popeye domain containing 3 111 integral to membrane NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1) 26 all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238) GGAGCTGTACAACACTTGGAA 0.423000 113 144 0 0 1 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40259718 40259718 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr15:40259718C>T ENST00000263791.5 + 9 1234 c.1191C>T c.(1189-1191)atC>atT p.I397I EIF2AK4_ENST00000559624.1_Silent_p.I397I|EIF2AK4_ENST00000382727.2_Silent_p.I397I NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 397 Protein kinase 1. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) CAGGCCCCATCCCTGTGCATC 0.517000 20 31 0 0 1 0 0 DAB1 1600 broad.mit.edu 37 1 57480947 57480947 + Missense_Mutation SNP C C A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:57480947C>A ENST00000371236.2 - 12 1316 c.1053G>T c.(1051-1053)caG>caT p.Q351H DAB1_ENST00000414851.2_Missense_Mutation_p.Q333H|DAB1_ENST00000420954.2_Missense_Mutation_p.Q349H|DAB1_ENST00000371234.4_Missense_Mutation_p.Q351H|DAB1_ENST00000439789.2_Missense_Mutation_p.Q265H|DAB1_ENST00000371231.1_Missense_Mutation_p.Q384H|DAB1_ENST00000485760.1_5'UTR O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 384 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 GCCAGGGCTGCTGAGTGGCAG 0.632000 50 48 2.43698e-19 2.49034e-19 1 1 0 STIM1 6786 broad.mit.edu 37 11 4112532 4112532 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr11:4112532C>T ENST00000300737.4 + 12 2131 c.1562C>T c.(1561-1563)tCg>tTg p.S521L STIM1_ENST00000533977.1_Missense_Mutation_p.S348L|STIM1_ENST00000527651.1_Silent_p.F533F NM_003156.3 NP_003147.2 Q13586 STIM1_HUMAN stromal interaction molecule 1 521 activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule calcium ion binding|microtubule plus-end binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233) BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141) CATTCCGATTCGGAGTCCTCC 0.552000 69 73 0 0 1 0 0 AP2B1 163 broad.mit.edu 37 17 33954713 33954713 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr17:33954713C>T ENST00000262325.7 + 9 1676 c.1123C>T c.(1123-1125)Cgg>Tgg p.R375W AP2B1_ENST00000592545.1_Missense_Mutation_p.R337W|AP2B1_ENST00000538556.1_Missense_Mutation_p.R318W|AP2B1_ENST00000589344.1_Missense_Mutation_p.R375W|AP2B1_ENST00000312678.8_Missense_Mutation_p.R375W|AP2B1_ENST00000537622.2_Missense_Mutation_p.R375W|AP2B1_ENST00000545922.2_3'UTR NM_001282.2 NP_001273.1 P63010 AP2B1_HUMAN adaptor-related protein complex 2, beta 1 subunit 375 axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane clathrin binding|protein transporter activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) AAAAGCTGTGCGGGCCATTGG 0.438000 3 65 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71507856 71507856 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr4:71507856C>T ENST00000396073.3 + 9 994 c.713C>T c.(712-714)cCa>cTa p.P238L ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 238 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) GCAGAAAGTCCAGGCACAGAA 0.448000 29 39 0 0 1 0 0 FIGNL1 63979 broad.mit.edu 37 7 50513698 50513698 + Missense_Mutation SNP A A C TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr7:50513698A>C ENST00000419119.1 - 2 2841 c.1288T>G c.(1288-1290)Tta>Gta p.L430V FIGNL1_ENST00000395556.2_Missense_Mutation_p.L430V|FIGNL1_ENST00000433017.1_Missense_Mutation_p.L430V|FIGNL1_ENST00000356889.4_Missense_Mutation_p.L430V Q6PIW4 FIGL1_HUMAN fidgetin-like 1 430 ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle cytoplasm|nucleus ATP binding|magnesium ion binding|nucleoside-triphosphatase activity endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 29 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06) GGTCCCCTTAAACCAGTAAAG 0.443000 20 25 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13871727 13871727 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr5:13871727C>T ENST00000265104.4 - 23 3648 c.3544G>A c.(3544-3546)Gaa>Aaa p.E1182K CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1182 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GCATTAATTTCCTGCTCTAGG 0.373000 Kartagener syndrome 7 23 0 0 1 0 0 RAB30 27314 broad.mit.edu 37 11 82708292 82708292 + Missense_Mutation SNP T T A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr11:82708292T>A ENST00000533486.1 - 3 351 c.67A>T c.(67-69)Acg>Tcg p.T23S RAB30_ENST00000534141.1_Missense_Mutation_p.T23S|RAB30_ENST00000532548.1_Missense_Mutation_p.T23S|RAB30_ENST00000525117.1_Missense_Mutation_p.T23S|RAB30_ENST00000260056.2_Missense_Mutation_p.T23S|RAB30_ENST00000527633.1_Missense_Mutation_p.T23S|RP11-659G9.3_ENST00000527550.1_RNA NM_014488.3 NP_055303.2 Q15771 RAB30_HUMAN RAB30, member RAS oncogene family 23 protein transport|small GTPase mediated signal transduction Golgi stack|plasma membrane GTP binding|GTPase activity endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 ACGAGGCACGTCTTCCCCACA 0.483000 18 35 0 0 1 0 0 CBX7 23492 broad.mit.edu 37 22 39530536 39530536 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr22:39530536G>A ENST00000216133.5 - 5 673 c.468C>T c.(466-468)ttC>ttT p.F156F CBX7_ENST00000401405.3_Intron|CBX7_ENST00000475962.1_Intron NM_175709.3 NP_783640.1 O95931 CBX7_HUMAN chromobox homolog 7 156 chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear chromatin|PcG protein complex endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 Melanoma(58;0.04) CGCGGGGCGGGAACTTCTTGC 0.701000 4 5 0 0 1 0 0 PLXNC1 10154 broad.mit.edu 37 12 94673364 94673364 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr12:94673364C>T ENST00000258526.4 + 22 3963 c.3714C>T c.(3712-3714)ttC>ttT p.F1238F RP11-1105G2.3_ENST00000551941.1_Intron|PLXNC1_ENST00000545312.1_5'UTR|PLXNC1_ENST00000547057.1_Silent_p.F285F NM_005761.2 NP_005752.1 O60486 PLXC1_HUMAN plexin C1 1238 axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 AAAAGATTTTCCAAGCATTCT 0.448000 33 37 0 0 1 0 0 ESYT1 23344 broad.mit.edu 37 12 56530642 56530642 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr12:56530642C>T ENST00000394048.5 + 16 2011 c.1747C>T c.(1747-1749)Cca>Tca p.P583S ESYT1_ENST00000267113.4_Missense_Mutation_p.P593S|ESYT1_ENST00000541590.1_Missense_Mutation_p.P593S NM_001184796.1|NM_015292.2 NP_001171725.1|NP_056107.1 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 583 integral to membrane breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 28 CAGCTCTGGTCCAAACTCCAG 0.532000 39 47 0 0 1 0 0 OR1L1 26737 broad.mit.edu 37 9 125424063 125424063 + Missense_Mutation SNP T T A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr9:125424063T>A ENST00000373686.1 + 1 219 c.219T>A c.(217-219)gaT>gaA p.D73E Q8NH94 OR1L1_HUMAN olfactory receptor, family 1, subfamily L, member 1 73 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 GACCTGAGGATCAGAAGCCGC 0.478000 15 19 0 0 1 0 0 TRBV5-4 28611 broad.mit.edu 37 7 142168545 142168545 + RNA SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr7:142168545G>A ENST00000454561.2 - 0 378 TGGGGCCCCTGACCCAGGGCC 0.507000 19 29 0 0 1 0 0 SYTL2 54843 broad.mit.edu 37 11 85445046 85445046 + Missense_Mutation SNP A A C TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr11:85445046A>C ENST00000316356.4 - 7 1890 c.1326T>G c.(1324-1326)aaT>aaG p.N442K SYTL2_ENST00000524452.1_Missense_Mutation_p.N441K|SYTL2_ENST00000389960.4_Missense_Mutation_p.N441K|SYTL2_ENST00000528231.1_Missense_Mutation_p.N441K|SYTL2_ENST00000527523.1_Missense_Mutation_p.N393K Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 441 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) CTTTGGGTTCATTGATGGTTG 0.383000 31 139 0 0 1 0 0 ORC1 4998 broad.mit.edu 37 1 52849185 52849185 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:52849185G>A ENST00000371568.3 - 13 2138 c.1920C>T c.(1918-1920)ccC>ccT p.P640P ORC1_ENST00000371566.1_Silent_p.P640P NM_001190818.1|NM_001190819.1|NM_004153.3 NP_001177747.1|NP_001177748.1|NP_004144.2 Q13415 ORC1_HUMAN origin recognition complex, subunit 1 640 Necessary and sufficient for ORC complex assembly. cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 CCTTATGAGTGGGCCAGTCAA 0.527000 33 44 0 0 1 0 0 ANKRD46 157567 broad.mit.edu 37 8 101541941 101541941 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr8:101541941G>A ENST00000520311.1 - 3 924 c.121C>T c.(121-123)Cgt>Tgt p.R41C ANKRD46_ENST00000520552.1_Missense_Mutation_p.R41C|ANKRD46_ENST00000519597.1_Missense_Mutation_p.R41C|ANKRD46_ENST00000335659.3_Missense_Mutation_p.R41C|ANKRD46_ENST00000519316.1_Missense_Mutation_p.R41C NM_001270378.1 NP_001257307.1 Q86W74 ANR46_HUMAN ankyrin repeat domain 46 41 integral to membrane kidney(1)|large_intestine(2)|lung(4) 7 all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998) Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957) CTGCTGTCACGAATATTTGGG 0.493000 21 126 0 0 1 0 0 PLCL2 23228 broad.mit.edu 37 3 17052594 17052594 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr3:17052594G>A ENST00000418129.2 + 2 1843 c.1378G>A c.(1378-1380)Gaa>Aaa p.E460K PLCL2_ENST00000396755.2_Missense_Mutation_p.E460K|PLCL2_ENST00000432376.1_Missense_Mutation_p.E460K NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 586 PI-PLC X-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 TGTTACTGACGAAGATGAAGG 0.423000 14 10 0 0 1 0 0 FRMD5 84978 broad.mit.edu 37 15 44166495 44166495 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr15:44166495G>A ENST00000417257.1 - 14 1477 c.1301C>T c.(1300-1302)cCt>cTt p.P434L FRMD5_ENST00000484674.1_Missense_Mutation_p.P340L|FRMD5_ENST00000402883.1_Missense_Mutation_p.P434L NM_032892.3 NP_116281.2 Q7Z6J6 FRMD5_HUMAN FERM domain containing 5 434 cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275) all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06) CTCAGCCACAGGGGTGGGCAG 0.587000 30 32 0 0 1 0 0 CMTR2 55783 broad.mit.edu 37 16 71319194 71319194 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr16:71319194G>A ENST00000338099.5 - 3 966 c.630C>T c.(628-630)atC>atT p.I210I FTSJD1_ENST00000434935.2_Silent_p.I210I Q8IYT2 FTSJ1_HUMAN 210 integral to membrane methyltransferase activity|nucleic acid binding breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TCAGGGTCATGATATCACCAG 0.438000 45 57 0 0 1 0 0 NGF 4803 broad.mit.edu 37 1 115829256 115829256 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:115829256G>A ENST00000369512.2 - 3 329 c.161C>T c.(160-162)gCc>gTc p.A54V RP4-663N10.1_ENST00000425449.1_RNA NM_002506.2 NP_002497.2 P01138 NGF_HUMAN nerve growth factor (beta polypeptide) 54 activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|Golgi lumen growth factor activity|nerve growth factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) CGCTGCCGGGGCGCTGCGGGC 0.622000 23 3 0 0 1 0 0 SYT17 51760 broad.mit.edu 37 16 19194943 19194943 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr16:19194943C>T ENST00000562034.1 + 3 4040 c.242C>T c.(241-243)tCg>tTg p.S81L SYT17_ENST00000562711.2_Missense_Mutation_p.S138L|SYT17_ENST00000568115.1_Missense_Mutation_p.S81L|SYT17_ENST00000355377.2_Missense_Mutation_p.S142L Q9BSW7 SYT17_HUMAN synaptotagmin XVII 142 membrane|synaptic vesicle transporter activity NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 17 ATCCAACCTTCGGTGCTCAGA 0.537000 13 29 0 0 1 0 0 ABI3BP 25890 broad.mit.edu 37 3 100645169 100645169 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr3:100645169C>T ENST00000471714.1 - 2 366 c.257G>A c.(256-258)gGg>gAg p.G86E ABI3BP_ENST00000532144.1_5'UTR|ABI3BP_ENST00000495063.1_Missense_Mutation_p.G86E|ABI3BP_ENST00000284322.5_Missense_Mutation_p.G86E Q7Z7G0 TARSH_HUMAN ABI family, member 3 (NESH) binding protein 86 extracellular space central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 TGTGAATTTCCCTTCAGCGGG 0.473000 16 11 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41203237 41203237 + Nonsense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr5:41203237C>T ENST00000263413.3 - 2 360 c.96G>A c.(94-96)tgG>tgA p.W32* C6_ENST00000337836.5_Nonsense_Mutation_p.W32* NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 32 TSP type-1 1. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) AGCAGCTGGTCCACTGAGTCC 0.502000 21 33 0 0 1 0 0 FAM184A 79632 broad.mit.edu 37 6 119345372 119345372 + Nonsense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr6:119345372G>A ENST00000338891.7 - 2 1209 c.766C>T c.(766-768)Cag>Tag p.Q256* FAM184A_ENST00000522284.1_Nonsense_Mutation_p.Q136*|FAM184A_ENST00000521531.1_Nonsense_Mutation_p.Q256*|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Nonsense_Mutation_p.Q136*|FAM184A_ENST00000352896.5_Nonsense_Mutation_p.Q136* NM_024581.4 NP_078857.5 Q8NB25 F184A_HUMAN family with sequence similarity 184, member A 256 breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 TAAAAGGACTGAGCTTTATTC 0.403000 9 9 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20996486 20996486 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr16:20996486G>A ENST00000261383.3 - 48 7577 c.7578C>T c.(7576-7578)atC>atT p.I2526I DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2526 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TCTTCTCCACGATGTCAGCCT 0.473000 26 24 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195517229 195517229 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr3:195517229C>T ENST00000463781.3 - 2 1681 c.1222G>A c.(1222-1224)Gag>Aag p.E408K MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.E408K NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 413 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GATGTCTCCTCTGTGTTTCCA 0.463000 28 79 0 0 1 0 0 ANGPT4 51378 broad.mit.edu 37 20 853619 853619 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr20:853619C>T ENST00000381922.3 - 9 1598 c.1496G>A c.(1495-1497)cGg>cAg p.R499Q ANGPT4_ENST00000546022.1_3'UTR NM_015985.2 NP_057069.1 Q9Y264 ANGP4_HUMAN angiopoietin 4 499 Fibrinogen C-terminal. anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 27 GTCCAAAGGCCGTATCATCAT 0.572000 25 34 0 0 1 0 0 MECOM 2122 broad.mit.edu 37 3 168833255 168833255 + Missense_Mutation SNP C C T rs139044661 TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr3:168833255C>T ENST00000464456.1 - 7 3041 c.1841G>A c.(1840-1842)gGa>gAa p.G614E MECOM_ENST00000392736.3_Missense_Mutation_p.G614E|MECOM_ENST00000460814.1_Missense_Mutation_p.G614E|MECOM_ENST00000494292.1_Missense_Mutation_p.G802E|MECOM_ENST00000468789.1_Missense_Mutation_p.G614E|MECOM_ENST00000264674.3_Missense_Mutation_p.G679E|MECOM_ENST00000433243.2_Missense_Mutation_p.G615E|MECOM_ENST00000472280.1_Missense_Mutation_p.G615E NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 23 sequence-specific DNA binding transcription factor activity p.G614E(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 GACGTTGCTTCCTTTTTTTCC 0.488000 10 18 0 0 1 0 0 NETO1 81832 broad.mit.edu 37 18 70417352 70417352 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr18:70417352C>T ENST00000327305.6 - 9 2143 c.1486G>A c.(1486-1488)Gaa>Aaa p.E496K NETO1_ENST00000299430.2_Missense_Mutation_p.E495K|NETO1_ENST00000583169.1_Missense_Mutation_p.E496K NM_138966.3 NP_620416.1 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 496 memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) GGCACCTCTTCGATTTCATCT 0.463000 4 7 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152725406 152725406 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr6:152725406G>A ENST00000367255.5 - 46 7368 c.6767C>T c.(6766-6768)tCc>tTc p.S2256F SYNE1_ENST00000448038.1_Missense_Mutation_p.S2263F|SYNE1_ENST00000423061.1_Missense_Mutation_p.S2263F|SYNE1_ENST00000265368.4_Missense_Mutation_p.S2256F|SYNE1_ENST00000341594.5_Missense_Mutation_p.S2293F|RP3-398G3.5_ENST00000458194.1_RNA NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2256 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ATTAACTTTGGAATGCAGTTC 0.338000 HNSCC(10;0.0054) 21 21 0 0 1 0 0 C1orf172 126695 broad.mit.edu 37 1 27278715 27278715 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:27278715G>A ENST00000320567.5 - 2 245 c.157C>T c.(157-159)Cat>Tat p.H53Y NM_152365.2 NP_689578.2 Q8NAX2 CA172_HUMAN chromosome 1 open reading frame 172 53 Pro-rich. NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) TCTGGCCCATGGTGGCCAGGG 0.632000 8 17 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 121038780 121038780 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr11:121038780C>T ENST00000392793.1 + 19 5875 c.5604C>T c.(5602-5604)atC>atT p.I1868I TECTA_ENST00000264037.2_Silent_p.I1868I O75443 TECTA_HUMAN tectorin alpha 1868 ZP. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GCACGCATATCATGTATAAAA 0.448000 36 4 0 0 1 0 0 DNM1P46 196968 broad.mit.edu 37 15 100332711 100332711 + RNA SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr15:100332711G>A ENST00000341853.1 - 0 1480 NR_003260.1 CTCTGCAggggtgggggtggg 0.617000 93 50 0 0 1 0 0 PDIK1L 149420 broad.mit.edu 37 1 26441071 26441071 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:26441071C>T ENST00000374271.4 + 3 559 c.272C>T c.(271-273)tCc>tTc p.S91F PDIK1L_ENST00000374269.1_Missense_Mutation_p.S91F NM_001243532.1|NM_001243533.1|NM_152835.4 NP_001230461.1|NP_001230462.1|NP_690048.1 Q8N165 PDK1L_HUMAN PDLIM1 interacting kinase 1 like 91 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 7 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649) TCTAATTCTTCCCTTTATTTA 0.423000 16 33 0 0 1 0 0 DAND5 199699 broad.mit.edu 37 19 13084349 13084349 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr19:13084349C>T ENST00000317060.2 + 2 650 c.471C>T c.(469-471)ccC>ccT p.P157P DAND5_ENST00000585548.1_3'UTR NM_152654.2 NP_689867.1 Q8N907 DAND5_HUMAN DAN domain family member 5, BMP antagonist 157 CTCK. extracellular region kidney(2)|lung(3)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(19;1.87e-18) GTTGGGCACCCGTGGTCCTGT 0.587000 64 91 0 0 1 0 0 CUZD1 50624 broad.mit.edu 37 10 124591900 124591900 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr10:124591900G>A ENST00000368904.1 - 11 2667 c.1718C>T c.(1717-1719)tCc>tTc p.S573F CUZD1_ENST00000545804.1_Missense_Mutation_p.S573F|CUZD1_ENST00000392790.1_Missense_Mutation_p.S573F Q86UP6 CUZD1_HUMAN CUB and zona pellucida-like domains 1 573 cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation integral to membrane|transport vesicle membrane|zymogen granule membrane p.S573F(1) NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1) 39 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141) AACCATGAAGGAAAACAGATG 0.408000 43 67 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227920702 227920702 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr2:227920702G>A ENST00000396625.3 - 30 2882 c.2675C>T c.(2674-2676)cCc>cTc p.P892L COL4A4_ENST00000329662.7_Missense_Mutation_p.P892L NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 892 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) ATCTCCAAAGGGACCTGGGAT 0.592000 13 37 0 0 1 0 0 MED13L 23389 broad.mit.edu 37 12 116409900 116409900 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr12:116409900G>A ENST00000281928.3 - 26 6079 c.5873C>T c.(5872-5874)tCc>tTc p.S1958F NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 1958 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) CACTACAAAGGACCCCTGGGG 0.468000 3 10 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18823443 18823443 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr16:18823443C>T ENST00000446231.2 - 61 11040 c.10628G>A c.(10627-10629)cGg>cAg p.R3543Q SMG1_ENST00000389467.3_Missense_Mutation_p.R3544Q|RP11-1035H13.2_ENST00000569096.1_RNA Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 3543 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 AGTGTTACTCCGGACTGCTAC 0.473000 19 23 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55233060 55233060 + Missense_Mutation SNP A A G TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr7:55233060A>G ENST00000275493.2 + 15 1987 c.1810A>G c.(1810-1812)Aac>Gac p.N604D EGFR_ENST00000344576.2_Missense_Mutation_p.N604D|EGFR_ENST00000455089.1_Missense_Mutation_p.N559D|EGFR_ENST00000342916.3_Missense_Mutation_p.N604D|EGFR_ENST00000454757.2_Missense_Mutation_p.N551D|EGFR_ENST00000442591.1_Missense_Mutation_p.N604D NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 604 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GGGAGAAAACAACACCCTGGT 0.572000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 32 50 0 0 1 0 0 CATSPERB 79820 broad.mit.edu 37 14 92091189 92091189 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr14:92091189G>A ENST00000256343.3 - 18 2061 c.1905C>T c.(1903-1905)gtC>gtT p.V635V NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 635 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) TGAGTTTATAGACATTTCCAG 0.323000 8 11 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120580374 120580374 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr12:120580374G>A ENST00000300648.6 - 44 5778 c.5766C>T c.(5764-5766)atC>atT p.I1922I NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1922 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GAGTGGGTAGGATCTCACGCA 0.592000 43 40 0 0 1 0 0 ACHE 43 broad.mit.edu 37 7 100491048 100491048 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr7:100491048G>A ENST00000302913.4 - 2 944 c.806C>T c.(805-807)aCg>aTg p.T269M ACHE_ENST00000419336.2_Missense_Mutation_p.T269M|ACHE_ENST00000428317.1_Missense_Mutation_p.T269M|ACHE_ENST00000412389.1_Missense_Mutation_p.T269M|ACHE_ENST00000411582.1_Missense_Mutation_p.T269M|ACHE_ENST00000241069.5_Missense_Mutation_p.T269M NM_015831.2 NP_056646.1 P22303 ACES_HUMAN acetylcholinesterase 269 acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity large_intestine(3)|lung(7)|skin(3)|urinary_tract(3) 16 Lung NSC(181;0.041)|all_lung(186;0.0581) Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199) CATGCCCACCGTGGCCCAGGG 0.716000 9 9 0 0 1 0 0 IQCH 64799 broad.mit.edu 37 15 67629389 67629389 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr15:67629389C>T ENST00000335894.4 + 5 530 c.464C>T c.(463-465)cCc>cTc p.P155L IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000358767.3_5'UTR NM_001031715.2 NP_001026885.1 Q86VS3 IQCH_HUMAN IQ motif containing H 155 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) TGCACAGATCCCTATTTCACT 0.378000 20 45 0 0 1 0 0 COPA 1314 broad.mit.edu 37 1 160262336 160262336 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:160262336G>A ENST00000241704.7 - 28 3127 c.2898C>T c.(2896-2898)ggC>ggT p.G966G COPA_ENST00000368069.3_Silent_p.G975G NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha 966 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AGGTTGTGCGGCCTCGGGCGT 0.502000 39 143 0 0 1 0 0 ALPK3 57538 broad.mit.edu 37 15 85400630 85400630 + Silent SNP G G A rs142125273 TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr15:85400630G>A ENST00000258888.5 + 6 3434 c.3267G>A c.(3265-3267)ccG>ccA p.P1089P NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 1089 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) GTAGCACCCCGACTTCTCAGC 0.637000 38 22 0 0 1 0 0 CD177 57126 broad.mit.edu 37 19 43859933 43859933 + RNA SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr19:43859933G>A ENST00000378009.4 + 0 542 CD177_ENST00000607517.1_RNA NM_020406.2 NP_065139.2 Q8N6Q3 CD177_HUMAN CD177 molecule blood coagulation|leukocyte migration anchored to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 Prostate(69;0.00682) AGGCTCAGGGGAGGTAAGCCT 0.587000 25 39 0 0 1 0 0 OR5J2 282775 broad.mit.edu 37 11 55944509 55944509 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr11:55944509G>A ENST00000312298.1 + 1 416 c.416G>A c.(415-417)aGa>aAa p.R139K NM_001005492.1 NP_001005492.1 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, member 2 139 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) ATGTCTGATAGAAAGTGTGTG 0.448000 24 24 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 97658630 97658630 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:97658630C>T ENST00000370192.3 - 20 2717 c.2617G>A c.(2617-2619)Gac>Aac p.D873N DPYD-AS1_ENST00000422980.1_RNA NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 873 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) CATACCTTGTCCATGAGTTCA 0.413000 10 15 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124352637 124352637 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr12:124352637G>A ENST00000409039.3 + 42 7161 c.7136G>A c.(7135-7137)gGa>gAa p.G2379E NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2379 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GACACAGAAGGAGTTTGGGCC 0.493000 7 7 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16260038 16260038 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:16260038C>T ENST00000375759.3 + 11 7507 c.7303C>T c.(7303-7305)Ccc>Tcc p.P2435S NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 2435 Interaction with MSX2 (By similarity).|Pro-rich.|RID. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) TCCCCCACCTCCCCAGCCAGC 0.567000 16 13 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 122002855 122002855 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr3:122002855G>A ENST00000498619.1 + 7 2522 c.2084G>A c.(2083-2085)gGc>gAc p.G695D CASR_ENST00000490131.1_Missense_Mutation_p.G685D|CASR_ENST00000296154.5_Missense_Mutation_p.G685D NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 685 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CCGGCCTTTGGCATCAGCTTC 0.607000 40 39 0 0 1 0 0 OR2L13 284521 broad.mit.edu 37 1 248263373 248263373 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:248263373G>A ENST00000366478.2 + 3 1033 c.696G>A c.(694-696)ggG>ggA p.G232G OR2L13_ENST00000358120.2_Silent_p.G232G NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 232 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) CAAAGGAGGGGAGAAAAAAGG 0.438000 18 71 0 0 1 0 0 MAMLD1 10046 broad.mit.edu 37 X 149639278 149639278 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chrX:149639278C>T ENST00000370401.2 + 4 1743 c.1433C>T c.(1432-1434)tCc>tTc p.S478F MAMLD1_ENST00000426613.2_Missense_Mutation_p.S453F|MAMLD1_ENST00000432680.2_Missense_Mutation_p.S453F|MAMLD1_ENST00000262858.5_Missense_Mutation_p.S478F Q13495 MAMD1_HUMAN mastermind-like domain containing 1 478 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) CCACAGTGTTCCCTGATCCGA 0.577000 45 3 0 0 1 0 0 C1orf106 55765 broad.mit.edu 37 1 200878023 200878023 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:200878023C>T ENST00000367342.4 + 7 1195 c.995C>T c.(994-996)cCc>cTc p.P332L C1orf106_ENST00000413687.2_Missense_Mutation_p.P247L NM_018265.3 NP_060735.3 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 332 Pro-rich. endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 CTGGACCACCCCTATGAGAAG 0.637000 7 71 0 0 1 0 0 ZNF391 346157 broad.mit.edu 37 6 27368625 27368625 + Missense_Mutation SNP A A C TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr6:27368625A>C ENST00000244576.4 + 3 1021 c.476A>C c.(475-477)cAc>cCc p.H159P NM_001076781.1 NP_001070249.1 Q9UJN7 ZN391_HUMAN zinc finger protein 391 159 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1) 21 CAAAGAACTCACACTGGAGAG 0.398000 31 258 0 0 1 0 0 SYNDIG1L 646658 broad.mit.edu 37 14 74876342 74876342 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr14:74876342C>T ENST00000331628.3 - 2 353 c.106G>A c.(106-108)Gaa>Aaa p.E36K SYNDIG1L_ENST00000554823.1_Missense_Mutation_p.E36K NM_001105579.1 NP_001099049.1 A6NDD5 SYN1L_HUMAN synapse differentiation inducing 1-like 36 response to biotic stimulus Golgi apparatus|integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1) 14 TAGAGCTTTTCCTGGCAGGAC 0.667000 17 26 0 0 1 0 0 PASD1 139135 broad.mit.edu 37 X 150842491 150842491 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chrX:150842491C>T ENST00000370357.4 + 15 2253 c.2008C>T c.(2008-2010)Cct>Tct p.P670S NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 670 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) TTCCAGCATTCCTCAGTTTCC 0.488000 44 6 0 0 1 0 0 C12orf4 57102 broad.mit.edu 37 12 4626315 4626315 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr12:4626315G>A ENST00000261250.3 - 9 1161 c.1074C>T c.(1072-1074)ttC>ttT p.F358F C12orf4_ENST00000545746.1_Silent_p.F358F NM_020374.2 NP_065107.1 Q9NQ89 CL004_HUMAN chromosome 12 open reading frame 4 358 NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 13 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) BRCA - Breast invasive adenocarcinoma(232;0.0281) CAATTCGGGGGAAATGGAAGT 0.383000 16 34 0 0 1 0 0 PADI2 11240 broad.mit.edu 37 1 17396660 17396660 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:17396660C>T ENST00000375486.4 - 15 1750 c.1687G>A c.(1687-1689)Gag>Aag p.E563K PADI2_ENST00000466151.1_5'UTR|PADI2_ENST00000444885.2_Missense_Mutation_p.E447K NM_007365.2 NP_031391.2 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 563 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) ATGTCCTGCTCTGTCAGTCCC 0.592000 86 80 0 0 1 0 0 WFDC10A 140832 broad.mit.edu 37 20 44258500 44258500 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr20:44258500G>A ENST00000372643.3 + 1 336 c.48G>A c.(46-48)ctG>ctA p.L16L WFDC9_ENST00000326000.1_Intron NM_080753.2 NP_542791.1 Q9H1F0 WF10A_HUMAN WAP four-disulfide core domain 10A 16 extracellular region serine-type endopeptidase inhibitor activity large_intestine(2) 2 Myeloproliferative disorder(115;0.0122) GTGTGCTGCTGCTGCAGGCCC 0.592000 OREG0025983 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 16 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65273245 65273245 + RNA SNP T T A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr11:65273245T>A ENST00000534336.1 + 0 8013 NR_002819.2 GTAGCTCTATTATAATACTTA 0.373000 23 26 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121208660 121208660 + Nonsense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr3:121208660G>A ENST00000264233.5 - 16 3246 c.3118C>T c.(3118-3120)Cga>Tga p.R1040* NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 1040 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) TTCCAAGATCGAAAACTTCTG 0.408000 DNA polymerases (catalytic subunits) 7 16 0 0 1 0 0 TENM4 26011 broad.mit.edu 37 11 78433748 78433748 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr11:78433748G>A ENST00000278550.7 - 24 4227 c.3765C>T c.(3763-3765)ttC>ttT p.F1255F NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 TTCCAGAGGGGAAGATCCTTC 0.517000 39 102 0 0 1 0 0 SNCAIP 9627 broad.mit.edu 37 5 121758886 121758886 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr5:121758886G>A ENST00000261367.7 + 6 2023 c.595G>A c.(595-597)Gag>Aag p.E199K SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000379536.2_Missense_Mutation_p.E152K|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.E199K|SNCAIP_ENST00000261368.8_Missense_Mutation_p.E152K|SNCAIP_ENST00000503116.2_Missense_Mutation_p.E199K Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 152 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) CGACATGGATGAGATTCTGGA 0.507000 18 49 0 0 1 0 0 CNGA2 1260 broad.mit.edu 37 X 150906990 150906990 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chrX:150906990C>T ENST00000329903.4 + 1 68 c.35C>T c.(34-36)cCa>cTa p.P12L NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 12 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) AAGAGCTCCCCAGCCAATAAT 0.517000 57 10 0 0 1 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69049712 69049712 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr2:69049712G>A ENST00000295381.3 + 10 1857 c.1438G>A c.(1438-1440)Gaa>Aaa p.E480K ARHGAP25_ENST00000409202.3_Missense_Mutation_p.E481K|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.E474K|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.E473K|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.E441K|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.E174K NM_001007231.2 NP_001007232.2 P42331 RHG25_HUMAN Rho GTPase activating protein 25 480 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 TAAGGCAGGGGAAGGGCACAG 0.512000 34 44 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856702 53856702 + Missense_Mutation SNP G G A rs150688663 by1000genomes TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr19:53856702G>A ENST00000458035.1 + 4 2891 c.2774G>A c.(2773-2775)cGt>cAt p.R925H ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R925H(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AAAACCTTCCGTCACAATTCA 0.363000 3 58 0 0 1 0 0 MARCH10 162333 broad.mit.edu 37 17 60802443 60802443 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr17:60802443C>T ENST00000544856.2 - 8 2335 c.1957G>A c.(1957-1959)Gag>Aag p.E653K RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.E654K|MARCH10_ENST00000583600.1_Missense_Mutation_p.E692K|RP11-156L14.1_ENST00000579201.1_RNA|RP11-156L14.1_ENST00000584597.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000311269.5_Missense_Mutation_p.E654K Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 654 ligase activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 TCTCCCTCCTCCTCGGAGTCC 0.552000 10 33 0 0 1 0 0 F13B 2165 broad.mit.edu 37 1 197030984 197030984 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:197030984C>T ENST00000367412.1 - 3 424 c.381G>A c.(379-381)ggG>ggA p.G127G NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 127 Sushi 2. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 CTTCATCCTTCCCTCCAGTGG 0.393000 15 13 0 0 1 0 0 MLLT4-AS1 653483 broad.mit.edu 37 6 168227350 168227350 + RNA SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr6:168227350G>A ENST00000359760.5 - 0 39 NR_027906.1 ACCGCTGGTCGGGAAGGAACC 0.701000 6 13 0 0 1 0 0 GCK 2645 broad.mit.edu 37 7 44192914 44192914 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr7:44192914G>A ENST00000403799.3 - 2 663 c.194C>T c.(193-195)aCc>aTc p.T65I GCK_ENST00000345378.2_Missense_Mutation_p.T66I|GCK_ENST00000395796.3_Missense_Mutation_p.T64I|GCK_ENST00000437084.1_Missense_Mutation_p.T65I NM_000162.3 NP_000153.1 P35557 HXK4_HUMAN glucokinase (hexokinase 4) 65 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 37 GCCTTCTGGGGTGGAGCGCAC 0.612000 36 57 0 0 1 0 0 MIB2 142678 broad.mit.edu 37 1 1560757 1560757 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:1560757C>T ENST00000357210.4 + 7 1203 c.987C>T c.(985-987)gtC>gtT p.V329V MIB2_ENST00000504599.1_Silent_p.V285V|MIB2_ENST00000518681.1_Silent_p.V321V|MIB2_ENST00000378708.1_Silent_p.V271V|MIB2_ENST00000378710.3_Silent_p.V329V|MIB2_ENST00000378712.1_Silent_p.V206V|MIB2_ENST00000520777.1_Silent_p.V386V|MIB2_ENST00000505820.2_Silent_p.V386V|MIB2_ENST00000360522.4_Silent_p.V329V|MIB2_ENST00000355826.5_Silent_p.V372V NM_080875.2 NP_543151.2 Q96AX9 MIB2_HUMAN mindbomb E3 ubiquitin protein ligase 2 329 Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade endosome actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1) 18 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) ACACTGATGTCCTGCGGGAGA 0.697000 5 10 0 0 1 0 0 ZNF835 90485 broad.mit.edu 37 19 57175892 57175892 + Silent SNP G G T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr19:57175892G>T ENST00000537055.2 - 2 906 c.675C>A c.(673-675)gcC>gcA p.A225A NM_001005850.2 NP_001005850.2 zinc finger protein 835 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 TGGCGCACTGGGCGCACGCGT 0.711000 18 7 2.35188e-11 2.38022e-11 1 1 0 LRRC37A6P 387646 broad.mit.edu 37 10 27536568 27536568 + RNA SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr10:27536568C>T ENST00000574842.1 + 0 255 LRRC37A6P_ENST00000284414.4_RNA GCACCCTGTTCCCTCCTGATC 0.552000 9 23 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56539255 56539255 + Missense_Mutation SNP G G T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr19:56539255G>T ENST00000390649.3 + 7 1656 c.1656G>T c.(1654-1656)atG>atT p.M552I NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 552 NACHT. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) ACGACCTCATGGTTCAAGGAC 0.527000 12 11 6.72482e-11 6.78949e-11 1 1 0 TANC2 26115 broad.mit.edu 37 17 61176546 61176546 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr17:61176546C>T ENST00000424789.2 + 3 154 c.150C>T c.(148-150)tcC>tcT p.S50S TANC2_ENST00000389520.4_Silent_p.S50S NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 50 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 GTGGCATCTCCACAGAAAGCG 0.473000 2 3 0 0 1 0 0 SYK 6850 broad.mit.edu 37 9 93650843 93650843 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr9:93650843G>A ENST00000375754.4 + 13 1917 c.1769G>A c.(1768-1770)cGg>cAg p.R590Q SYK_ENST00000375746.1_Missense_Mutation_p.R590Q|SYK_ENST00000375747.1_Missense_Mutation_p.R567Q|SYK_ENST00000375751.4_Missense_Mutation_p.R567Q NM_003177.5 NP_003168.2 P43405 KSYK_HUMAN spleen tyrosine kinase 590 Protein kinase. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly cytosol|T cell receptor complex ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 AAAGGAGAGCGGATGGGGTGC 0.438000 T """ETV6, ITK""" """MDS, peripheral T-cell lymphoma""" 9 12 0 0 1 0 0 SPIRE2 84501 broad.mit.edu 37 16 89925586 89925586 + Missense_Mutation SNP C C T rs138861470 TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr16:89925586C>T ENST00000378247.3 + 9 1329 c.1286C>T c.(1285-1287)cCg>cTg p.P429L SPIRE2_ENST00000393062.2_Missense_Mutation_p.P429L NM_032451.1 NP_115827.1 Q8WWL2 SPIR2_HUMAN spire-type actin nucleation factor 2 429 transport cytoplasm|cytoskeleton actin binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0286) GAAGAGTCTCCGTGTGGGGAG 0.652000 26 30 0 0 1 0 0 NCOR2 9612 broad.mit.edu 37 12 124848237 124848237 + Silent SNP G G C TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr12:124848237G>C ENST00000356219.3 - 22 3071 c.2916C>G c.(2914-2916)gcC>gcG p.A972A NCOR2_ENST00000404121.2_Silent_p.A525A|NCOR2_ENST00000429285.2_Silent_p.A954A|NCOR2_ENST00000405201.1_Silent_p.A972A|NCOR2_ENST00000397355.1_Silent_p.A955A|NCOR2_ENST00000404621.1_Silent_p.A954A NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 972 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) TGGGGGGGATGGCAGCCGCTC 0.657000 67 103 0 0 1 0 0 FAM81B 153643 broad.mit.edu 37 5 94727109 94727109 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr5:94727109C>T ENST00000283357.5 + 1 62 c.16C>T c.(16-18)Ctt>Ttt p.L6F NM_152548.2 NP_689761.2 Q96LP2 FA81B_HUMAN family with sequence similarity 81, member B 6 central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473) all cancers(79;1.04e-16) ATTACAATTCCTTGGTACATT 0.373000 32 55 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18439842 18439842 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr12:18439842C>T ENST00000433979.1 + 3 856 c.740C>T c.(739-741)tCt>tTt p.S247F PIK3C2G_ENST00000266497.5_Missense_Mutation_p.S247F|PIK3C2G_ENST00000536967.1_3'UTR|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.S247F|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.S247F NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 247 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) AGTCTGGCCTCTTTTTGCAAC 0.308000 3 4 0 0 1 0 0 ITGAV 3685 broad.mit.edu 37 2 187531505 187531505 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr2:187531505C>T ENST00000261023.3 + 22 2515 c.2241C>T c.(2239-2241)atC>atT p.I747I ITGAV_ENST00000374907.3_Silent_p.I711I|ITGAV_ENST00000433736.2_Silent_p.I701I|AC017101.10_ENST00000453665.1_RNA NM_002210.3 NP_002201.1 P06756 ITAV_HUMAN integrin, alpha V 747 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) ACTTACAAATCCAAAGGTATG 0.299000 32 21 0 0 1 0 0 IGHV4OR15-8 28317 broad.mit.edu 37 15 22473085 22473085 + RNA SNP C C A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr15:22473085C>A ENST00000557788.2 - 0 185 CCAGCCCCTTCCCTGGGGGCT 0.572000 18 48 2.94398e-08 2.96516e-08 1 1 0 MYH11 4629 broad.mit.edu 37 16 15872688 15872688 + Missense_Mutation SNP G G T rs150759461 byFrequency TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr16:15872688G>T ENST00000338282.6 - 7 845 c.739C>A c.(739-741)Cgc>Agc p.R247S MYH11_ENST00000300036.5_Missense_Mutation_p.R247S|MYH11_ENST00000576790.1_Missense_Mutation_p.R247S|MYH11_ENST00000396324.3_Missense_Mutation_p.R254S|MYH11_ENST00000452625.2_Missense_Mutation_p.R254S NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 247 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 AAGTTGATGCGGATGAATTTG 0.552000 T CBFB AML 34 62 2.40579e-17 2.45251e-17 1 1 0 SYT4 6860 broad.mit.edu 37 18 40850323 40850323 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr18:40850323C>T ENST00000255224.3 - 4 1629 c.1261G>A c.(1261-1263)Gtg>Atg p.V421M SYT4_ENST00000590752.1_Missense_Mutation_p.V403M|SYT4_ENST00000586678.1_5'UTR NM_020783.3 NP_065834.1 Q9H2B2 SYT4_HUMAN synaptotagmin IV 421 cell junction|integral to membrane|synaptic vesicle membrane transporter activity breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 TCACAGAGCACGTGCCACTTG 0.463000 47 103 0 0 1 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84683440 84683440 + Missense_Mutation SNP G G C TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr15:84683440G>C ENST00000286744.5 + 24 4344 c.4120G>C c.(4120-4122)Gga>Cga p.G1374R ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.G1374R NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 1374 Ig-like C2-type 3. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) CAATGCTCTTGGAAAGGCAGT 0.453000 15 9 0 0 1 0 0 PDE4B 5142 broad.mit.edu 37 1 66833507 66833507 + Missense_Mutation SNP A A G TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:66833507A>G ENST00000423207.2 + 12 1953 c.1468A>G c.(1468-1470)Aca>Gca p.T490A PDE4B_ENST00000480109.2_Missense_Mutation_p.T272A|PDE4B_ENST00000371045.5_Missense_Mutation_p.T333A|PDE4B_ENST00000371049.3_Missense_Mutation_p.T505A|PDE4B_ENST00000329654.4_Missense_Mutation_p.T505A NM_001037340.1 NP_001032417.1 Q07343 PDE4B_HUMAN phosphodiesterase 4B, cAMP-specific 505 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 37 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) GCAGCGTCAGACACTCAGGAA 0.408000 30 24 0 0 1 0 0 GRK7 131890 broad.mit.edu 37 3 141499387 141499387 + Missense_Mutation SNP A A T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr3:141499387A>T ENST00000264952.2 + 2 921 c.784A>T c.(784-786)Acc>Tcc p.T262S NM_139209.2 NP_631948.1 Q8WTQ7 GRK7_HUMAN G protein-coupled receptor kinase 7 262 Protein kinase. visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 TGAGAGCAAGACCCATCTCTG 0.527000 28 57 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 120053707 120053707 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr9:120053707G>A ENST00000313400.4 - 2 628 c.528C>T c.(526-528)tcC>tcT p.S176S ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.S176S|ASTN2_ENST00000373996.3_Silent_p.S176S O75129 ASTN2_HUMAN astrotactin 2 176 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 AGCTGCTCATGGAGACGTGGA 0.592000 32 57 0 0 1 0 0 SH3RF3 344558 broad.mit.edu 37 2 110049072 110049072 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr2:110049072C>T ENST00000309415.6 + 6 1519 c.1519C>T c.(1519-1521)Ctg>Ttg p.L507L NM_001099289.1 NP_001092759.1 Q8TEJ3 SH3R3_HUMAN SH3 domain containing ring finger 3 507 SH3 3. zinc ion binding endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2) 18 GGGGGCGTCTCTGAGGACCGG 0.627000 8 9 0 0 1 0 0 ANAPC7 51434 broad.mit.edu 37 12 110819677 110819677 + Missense_Mutation SNP T T C TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr12:110819677T>C ENST00000455511.3 - 8 1114 c.1114A>G c.(1114-1116)Agt>Ggt p.S372G ANAPC7_ENST00000450008.2_Missense_Mutation_p.S372G NM_016238.2 NP_057322.2 Q9UJX3 APC7_HUMAN anaphase promoting complex subunit 7 372 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1) 19 GCTTGAACACTATTACTGTTC 0.468000 15 14 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175334293 175334293 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:175334293C>T ENST00000367674.1 - 12 3148 c.2440G>A c.(2440-2442)Gag>Aag p.E814K TNR_ENST00000263525.2_Missense_Mutation_p.E814K NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 814 Fibronectin type-III 6. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) ATCTCTTCCTCCTCATCCCTG 0.527000 46 13 0 0 1 0 0 IDE 3416 broad.mit.edu 37 10 94223753 94223753 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr10:94223753G>A ENST00000265986.6 - 21 2552 c.2496C>T c.(2494-2496)atC>atT p.I832I IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_Silent_p.I277I NM_004969.3 NP_004960.2 P14735 IDE_HUMAN insulin-degrading enzyme 832 beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2) 33 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CGCTGAAGACGATATAGCCTG 0.458000 72 73 0 0 1 0 0 ETS2 2114 broad.mit.edu 37 21 40191500 40191500 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr21:40191500C>T ENST00000360214.3 + 9 1345 c.885C>T c.(883-885)tcC>tcT p.S295S ETS2_ENST00000360938.3_Silent_p.S295S NM_001256295.1 NP_001243224.1 P15036 ETS2_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 2 295 positive regulation of transcription, DNA-dependent|skeletal system development nucleus protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Prostate(19;6.33e-08)|all_epithelial(19;0.123) TCCTCCAGTCCTGGAACAGCC 0.552000 30 36 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20999357 20999357 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr16:20999357G>A ENST00000261383.3 - 45 6631 c.6632C>T c.(6631-6633)tCc>tTc p.S2211F DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2211 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GGCATTGATGGAAATGATATT 0.413000 62 70 0 0 1 0 0 OR52K2 119774 broad.mit.edu 37 11 4470843 4470843 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr11:4470843C>T ENST00000325719.4 + 1 319 c.274C>T c.(274-276)Cgg>Tgg p.R92W NM_001005172.2 NP_001005172.2 Q8NGK3 O52K2_HUMAN olfactory receptor, family 52, subfamily K, member 2 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R92W(3) NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6) 25 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19) GTTCAGGGATCGGGAGATAAA 0.527000 16 22 0 0 1 0 0 CATSPERG 57828 broad.mit.edu 37 19 38850181 38850181 + Missense_Mutation SNP C C T rs140177794 TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr19:38850181C>T ENST00000409235.3 + 14 1683 c.1568C>T c.(1567-1569)tCg>tTg p.S523L CATSPERG_ENST00000410018.1_Missense_Mutation_p.S483L|CATSPERG_ENST00000215069.4_Intron NM_021185.4 NP_067008.3 Q6ZRH7 CTSRG_HUMAN catsper channel auxiliary subunit gamma 523 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane p.S163L(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2) 40 ATGGCCAGATCGTTCCGTGGG 0.602000 33 25 0 0 1 0 0 LTBP2 4053 broad.mit.edu 37 14 75052643 75052643 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr14:75052643C>T ENST00000261978.4 - 3 1130 c.744G>A c.(742-744)agG>agA p.R248R LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Silent_p.R248R NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 248 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) CCGCACTGCTCCTGCGCAGGT 0.667000 18 14 0 0 1 0 0 SKAP1 8631 broad.mit.edu 37 17 46247993 46247993 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr17:46247993C>T ENST00000336915.6 - 10 924 c.855G>A c.(853-855)gaG>gaA p.E285E SKAP1_ENST00000584924.1_Silent_p.E285E NM_001075099.1|NM_003726.3 NP_001068567.1|NP_003717.3 Q86WV1 SKAP1_HUMAN src kinase associated phosphoprotein 1 285 positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway cytoplasm|nucleus|plasma membrane antigen binding|protein kinase binding|SH2 domain binding large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1) 18 GAGTGCCACTCTCATCCTCTT 0.413000 40 60 0 0 1 0 0 REPS1 85021 broad.mit.edu 37 6 139266690 139266690 + Missense_Mutation SNP T T C TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr6:139266690T>C ENST00000450536.2 - 3 996 c.422A>G c.(421-423)aAg>aGg p.K141R REPS1_ENST00000258062.5_Missense_Mutation_p.K141R|REPS1_ENST00000367663.4_Missense_Mutation_p.K141R|REPS1_ENST00000409812.2_Missense_Mutation_p.K141R|REPS1_ENST00000415951.2_Missense_Mutation_p.K141R Q96D71 REPS1_HUMAN RALBP1 associated Eps domain containing 1 141 coated pit|plasma membrane calcium ion binding|SH3 domain binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 19 GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548) TACGGATCCCTTTTTCACTTG 0.478000 3 184 0 0 1 0 0 ENOX1 55068 broad.mit.edu 37 13 43843653 43843653 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr13:43843653C>T ENST00000261488.6 - 13 2084 c.1507G>A c.(1507-1509)Gaa>Aaa p.E503K ENOX1_ENST00000412891.1_Missense_Mutation_p.E503K NM_001242863.1|NM_017993.3 NP_001229792.1|NP_060463.2 Q8TC92 ENOX1_HUMAN ecto-NOX disulfide-thiol exchanger 1 503 electron transport chain|rhythmic process|transport extracellular space|plasma membrane nucleic acid binding|nucleotide binding|oxidoreductase activity breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1) 34 Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406) GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172) GACTGCTCTTCCTTTGCTTGT 0.388000 42 25 0 0 1 0 0 ADCY2 108 broad.mit.edu 37 5 7766907 7766907 + Missense_Mutation SNP A A C TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr5:7766907A>C ENST00000338316.4 + 17 2291 c.2202A>C c.(2200-2202)ttA>ttC p.L734F ADCY2_ENST00000537121.1_Missense_Mutation_p.L554F NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 734 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 CGCAGAATTTATTTTTCCTCC 0.428000 7 233 0 0 1 0 0 SEC23B 10483 broad.mit.edu 37 20 18507119 18507119 + Missense_Mutation SNP C C T rs111758941 TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr20:18507119C>T ENST00000336714.3 + 8 1369 c.937C>T c.(937-939)Cgt>Tgt p.R313C SEC23B_ENST00000377475.3_Missense_Mutation_p.R313C|SEC23B_ENST00000262544.2_Missense_Mutation_p.R313C|SEC23B_ENST00000377465.1_Missense_Mutation_p.R313C NM_006363.4|NM_032985.4|NM_032986.3 NP_006354.2|NP_116780.1|NP_116781.1 Q15437 SC23B_HUMAN Sec23 homolog B (S. cerevisiae) 313 R -> H. ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 32 GATTCCTATTCGTTCTTGGCA 0.458000 18 35 0 0 1 0 0 IL6R 3570 broad.mit.edu 37 1 154403031 154403031 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:154403031C>T ENST00000368485.3 + 3 844 c.407C>T c.(406-408)cCt>cTt p.P136L IL6R_ENST00000344086.4_Missense_Mutation_p.P136L NM_000565.3 NP_000556.1 P08887 IL6RA_HUMAN interleukin 6 receptor 136 acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity IL6R/ATP8B2(2) breast(2)|large_intestine(1)|ovary(3) 6 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GAGTGGGGTCCTCGGAGCACC 0.572000 62 20 0 0 1 0 0 IL12RB1 3594 broad.mit.edu 37 19 18182969 18182969 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr19:18182969C>T ENST00000600835.1 - 10 1277 c.974G>A c.(973-975)gGt>gAt p.G325D IL12RB1_ENST00000593993.1_Missense_Mutation_p.G325D|IL12RB1_ENST00000430026.2_Missense_Mutation_p.G325D|IL12RB1_ENST00000322153.6_Missense_Mutation_p.G325D P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 325 Fibronectin type-III 3. cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2) 8 CAGGCCAGGACCAAATTGGTT 0.627000 16 20 0 0 1 0 0 CHL1 10752 broad.mit.edu 37 3 432786 432786 + Missense_Mutation SNP A A C TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr3:432786A>C ENST00000256509.2 + 22 3377 c.2735A>C c.(2734-2736)aAc>aCc p.N912T CHL1_ENST00000397491.2_Missense_Mutation_p.N896T NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 896 axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) TTAGCCTATAACTCTAAAGGA 0.373000 14 21 0 0 1 0 0 KIAA1432 57589 broad.mit.edu 37 9 5772727 5772727 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr9:5772727C>T ENST00000414202.2 + 24 3971 c.3780C>T c.(3778-3780)tcC>tcT p.S1260S KIAA1432_ENST00000418622.3_Silent_p.S1181S|KIAA1432_ENST00000449720.2_Silent_p.S1144S NM_001206557.1|NM_020829.3 NP_001193486.1|NP_065880.2 Q4ADV7 RIC1_HUMAN KIAA1432 1260 integral to membrane breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1) 45 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) CTCATAAATCCCAGGTCCAGC 0.438000 5 15 0 0 1 0 0 MMP25 64386 broad.mit.edu 37 16 3107189 3107189 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr16:3107189G>A ENST00000336577.4 + 5 1054 c.817G>A c.(817-819)Gat>Aat p.D273N RP11-473M20.7_ENST00000573878.1_RNA|RP11-473M20.7_ENST00000570949.1_RNA|RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000573953.1_RNA NM_022468.4 NP_071913.1 Q9NPA2 MMP25_HUMAN matrix metallopeptidase 25 273 inflammatory response|proteolysis anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 14 GGATGACCGCGATGGCCTGCA 0.642000 77 233 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18823442 18823442 + Silent SNP C C A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr16:18823442C>A ENST00000446231.2 - 61 11041 c.10629G>T c.(10627-10629)cgG>cgT p.R3543R SMG1_ENST00000389467.3_Silent_p.R3544R|RP11-1035H13.2_ENST00000569096.1_RNA Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 3543 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 CAGTGTTACTCCGGACTGCTA 0.473000 19 21 1.64293e-13 1.67078e-13 1 1 0 SDC3 9672 broad.mit.edu 37 1 31349510 31349510 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:31349510G>A ENST00000336798.7 - 1 2077 c.585C>T c.(583-585)acC>acT p.T195T SDC3_ENST00000339394.6_Silent_p.T253T O75056 SDC3_HUMAN syndecan 3 253 Ser/Thr-rich (mucin-like). integral to membrane cytoskeletal protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151) STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649) TTGGCCGGGAGGTAGCTGTGC 0.716000 5 12 0 0 1 0 0 FCRL5 83416 broad.mit.edu 37 1 157504541 157504541 + Nonsense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:157504541C>T ENST00000361835.3 - 8 1701 c.1544G>A c.(1543-1545)tGg>tAg p.W515* FCRL5_ENST00000368190.3_Nonsense_Mutation_p.W515*|FCRL5_ENST00000368191.3_Nonsense_Mutation_p.W430*|FCRL5_ENST00000368189.3_Nonsense_Mutation_p.W515*|FCRL5_ENST00000356953.4_Nonsense_Mutation_p.W515* NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 515 Ig-like C2-type 5. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) TGAGCTGCTCCACAGGGGCAT 0.498000 3 29 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77387705 77387705 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr16:77387705C>T ENST00000282849.5 - 10 1957 c.1539G>A c.(1537-1539)caG>caA p.Q513Q NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 513 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 CATCATAAATCTGTCCTGGTA 0.433000 38 36 0 0 1 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94913480 94913480 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr7:94913480C>T ENST00000289495.5 + 15 3543 c.3327C>T c.(3325-3327)tcC>tcT p.S1109S PPP1R9A_ENST00000340694.4_Intron|PPP1R9A_ENST00000456331.2_Silent_p.S1127S|PPP1R9A_ENST00000433360.1_Silent_p.S1149S|PPP1R9A_ENST00000433881.1_Intron|PPP1R9A_ENST00000424654.1_Silent_p.S1127S NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 903 cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) CTACAAGTTCCCTTCAGCCTT 0.468000 HNSCC(28;0.073) 7 8 0 0 1 0 0 IRX6 79190 broad.mit.edu 37 16 55363007 55363007 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr16:55363007C>T ENST00000290552.7 + 5 2449 c.1117C>T c.(1117-1119)Cca>Tca p.P373S RP11-26L20.3_ENST00000558730.2_RNA NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 373 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 CCGGCCTAGGCCACGAAGTCC 0.637000 26 29 0 0 1 0 0 C10orf71 118461 broad.mit.edu 37 10 50531975 50531975 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr10:50531975G>A ENST00000374144.3 + 3 1673 c.1385G>A c.(1384-1386)aGc>aAc p.S462N C10orf71_ENST00000323868.4_Missense_Mutation_p.S462N Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 462 endometrium(1) 1 TCAGCAGACAGCCAGCCAGCA 0.537000 20 49 0 0 1 0 0 CA1 759 broad.mit.edu 37 8 86250640 86250640 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr8:86250640C>T ENST00000523953.1 - 4 1122 c.76G>A c.(76-78)Gga>Aga p.G26R CA1_ENST00000431316.1_Missense_Mutation_p.G26R|CA1_ENST00000523022.1_Missense_Mutation_p.G26R|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000522389.1_Intron|CA1_ENST00000256119.5_Missense_Mutation_p.G26R|CA1_ENST00000542576.1_Missense_Mutation_p.G26R|CA1_ENST00000432364.2_Missense_Mutation_p.G26R P00915 CAH1_HUMAN carbonic anhydrase I 26 one-carbon metabolic process Golgi apparatus carbonate dehydratase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 13 all_lung(136;4.89e-06) Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909) TGGTTATTTCCATTGGCAATG 0.418000 46 20 0 0 1 0 0 LINC00674 100499466 broad.mit.edu 37 17 66110653 66110653 + RNA SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr17:66110653G>A ENST00000435469.2 + 0 207 CCTTGACTACGGAGGGGTTGC 0.393000 11 14 0 0 1 0 0 RAG1 5896 broad.mit.edu 37 11 36596355 36596355 + Nonsense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr11:36596355C>T ENST00000299440.5 + 2 1613 c.1501C>T c.(1501-1503)Cag>Tag p.Q501* NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 501 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) ACAGATTTTTCAGCCTTTGCA 0.512000 Familial Hemophagocytic Lymphohistiocytosis 26 51 0 0 1 0 0 SYK 6850 broad.mit.edu 37 9 93650844 93650844 + Silent SNP G G C rs149469439 by1000genomes TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr9:93650844G>C ENST00000375754.4 + 13 1918 c.1770G>C c.(1768-1770)cgG>cgC p.R590R SYK_ENST00000375746.1_Silent_p.R590R|SYK_ENST00000375747.1_Silent_p.R567R|SYK_ENST00000375751.4_Silent_p.R567R NM_003177.5 NP_003168.2 P43405 KSYK_HUMAN spleen tyrosine kinase 590 Protein kinase. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly cytosol|T cell receptor complex ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 AAGGAGAGCGGATGGGGTGCC 0.438000 T """ETV6, ITK""" """MDS, peripheral T-cell lymphoma""" 9 12 0 0 1 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50462039 50462039 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr19:50462039C>T ENST00000447370.2 - 7 1314 c.1224G>A c.(1222-1224)caG>caA p.Q408Q SIGLEC11_ENST00000426971.2_Silent_p.Q408Q NM_052884.2 NP_443116.2 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 408 Ig-like C2-type 3. cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) GGCCCACGGTCTGTCCCCACC 0.682000 33 32 0 0 1 0 0 FBXO38 81545 broad.mit.edu 37 5 147813044 147813044 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr5:147813044C>T ENST00000340253.5 + 16 2879 c.2711C>T c.(2710-2712)tCc>tTc p.S904F FBXO38_ENST00000296701.6_Missense_Mutation_p.S659F|FBXO38_ENST00000513826.1_Missense_Mutation_p.S659F|FBXO38_ENST00000394370.3_Missense_Mutation_p.S829F Q6PIJ6 FBX38_HUMAN F-box protein 38 904 cytoplasm|nucleus ATG4C/FBXO38(2) NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAGATAAATCCACTAGTACA 0.413000 54 4 0 0 1 0 0 KIAA0319 9856 broad.mit.edu 37 6 24596453 24596453 + Missense_Mutation SNP A A G TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr6:24596453A>G ENST00000535378.1 - 4 1064 c.422T>C c.(421-423)cTa>cCa p.L141P KIAA0319_ENST00000543707.1_Missense_Mutation_p.L150P|KIAA0319_ENST00000378214.3_Missense_Mutation_p.L150P|KIAA0319_ENST00000430948.2_Missense_Mutation_p.L105P|KIAA0319_ENST00000537886.1_Missense_Mutation_p.L150P NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 150 negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 CATCTCCTCTAGGCCCCAATC 0.577000 67 245 0 0 1 0 0 KIAA1683 80726 broad.mit.edu 37 19 18377214 18377214 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr19:18377214G>A ENST00000392413.3 - 3 1351 c.1136C>T c.(1135-1137)gCc>gTc p.A379V KIAA1683_ENST00000600328.2_Missense_Mutation_p.A379V|KIAA1683_ENST00000600359.2_Missense_Mutation_p.A333V NM_001145304.1|NM_001145305.1|NM_025249.3 NP_001138776.1|NP_001138777.1|NP_079525.1 Q9H0B3 K1683_HUMAN KIAA1683 379 Thr-rich. mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 ATACATCTGGGCTGGGGTCTT 0.562000 39 49 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48686246 48686246 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr3:48686246C>T ENST00000544264.1 - 19 6978 c.6698G>A c.(6697-6699)cGa>cAa p.R2233Q CELSR3_ENST00000164024.4_Missense_Mutation_p.R2228Q Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 2228 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GGCAGTGACTCGAACATCTTG 0.602000 20 42 0 0 1 0 0 SP140L 93349 broad.mit.edu 37 2 231235650 231235650 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr2:231235650G>A ENST00000243810.6 + 6 551 c.551G>A c.(550-552)aGg>aAg p.R184K SP140L_ENST00000396563.4_Missense_Mutation_p.R184K|SP140L_ENST00000444636.1_Missense_Mutation_p.R184K|SP140L_ENST00000415673.2_Missense_Mutation_p.R184K|SP140L_ENST00000458341.1_Missense_Mutation_p.R97K Q9H930 LY10L_HUMAN SP140 nuclear body protein-like 184 nucleus DNA binding|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1) 20 CCGGAAGCAAGGAAGGAAAGT 0.552000 8 17 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 40727129 40727129 + Missense_Mutation SNP A A T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr20:40727129A>T ENST00000373198.3 - 28 4079 c.3844T>A c.(3844-3846)Ttc>Atc p.F1282I PTPRT_ENST00000373187.1_Missense_Mutation_p.F1260I|PTPRT_ENST00000373190.1_Missense_Mutation_p.F1259I|PTPRT_ENST00000373193.3_Missense_Mutation_p.F1263I|PTPRT_ENST00000373201.1_Missense_Mutation_p.F1250I|PTPRT_ENST00000356100.2_Missense_Mutation_p.F1269I|PTPRT_ENST00000373184.1_Missense_Mutation_p.F1270I NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1260 Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) AGCCTCCAGAAGTCTGCCACG 0.562000 46 41 0 0 1 0 0 DENND1A 57706 broad.mit.edu 37 9 126202651 126202651 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr9:126202651G>A ENST00000373624.2 - 19 1677 c.1476C>T c.(1474-1476)gtC>gtT p.V492V DENND1A_ENST00000373618.1_Silent_p.V460V|DENND1A_ENST00000542603.1_Silent_p.V234V|DENND1A_ENST00000394215.2_Silent_p.V462V|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000373620.3_Silent_p.V492V|DENND1A_ENST00000394219.3_Silent_p.V460V NM_020946.1 NP_065997.1 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A 492 cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 GTCCAAAGTGGACTGTGATTG 0.542000 16 17 0 0 1 0 0 MRAP 56246 broad.mit.edu 37 21 33684129 33684129 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr21:33684129G>A ENST00000399784.2 + 5 528 c.341G>A c.(340-342)gGg>gAg p.G114E MRAP_ENST00000339944.4_Intron|MRAP_ENST00000303645.5_Missense_Mutation_p.G114E|MRAP_ENST00000399786.3_Intron|URB1_ENST00000382751.3_3'UTR|MRAP_ENST00000497833.1_3'UTR NM_178817.3 NP_848932.1 Q8TCY5 MRAP_HUMAN melanocortin 2 receptor accessory protein 114 positive regulation of cAMP biosynthetic process|protein localization at cell surface endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding endometrium(1)|large_intestine(2)|lung(3) 6 GTGGAGCCAGGGAGCAGAACT 0.647000 13 15 0 0 1 0 0 SPATC1 375686 broad.mit.edu 37 8 145095681 145095681 + Missense_Mutation SNP A A C TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr8:145095681A>C ENST00000377470.3 + 3 1081 c.979A>C c.(979-981)Acc>Ccc p.T327P SPATC1_ENST00000447830.2_Missense_Mutation_p.T327P NM_198572.2 NP_940974.2 Q76KD6 SPERI_HUMAN spermatogenesis and centriole associated 1 327 NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 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;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) cacctcccccaccacctcccc 0.667000 3 37 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 62023660 62023660 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr10:62023660C>T ENST00000280772.1 - 6 823 c.632G>A c.(631-633)cGa>cAa p.R211Q ANK3_ENST00000373827.2_Missense_Mutation_p.R205Q|ANK3_ENST00000503366.1_Missense_Mutation_p.R194Q NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 211 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GTCGTCTTTTCGGGCCGCGAT 0.547000 13 17 0 0 1 0 0 ZNF234 10780 broad.mit.edu 37 19 44661340 44661340 + Missense_Mutation SNP C C A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr19:44661340C>A ENST00000426739.2 + 6 1429 c.1171C>A c.(1171-1173)Cag>Aag p.Q391K ZNF234_ENST00000592437.1_Missense_Mutation_p.Q391K NM_006630.2 NP_006621.1 Q14588 ZN234_HUMAN zinc finger protein 234 391 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1) 23 Prostate(69;0.0435) TCAGGCCCATCAGGGAGTCCA 0.443000 7 16 0.000274275 0.00027493 1 1 0 FBN1 2200 broad.mit.edu 37 15 48704789 48704789 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr15:48704789C>T ENST00000316623.5 - 65 8658 c.8203G>A c.(8203-8205)Gaa>Aaa p.E2735K FBN1_ENST00000561429.1_5'UTR NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 2735 heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GCATCAGTTTCGTTTGTGCTT 0.498000 35 55 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90074253 90074253 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr5:90074253G>A ENST00000405460.2 + 63 12772 c.12676G>A c.(12676-12678)Gat>Aat p.D4226N NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 4226 Calx-beta 28. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GGCTTTGAACGATGACATTCC 0.403000 10 4 0 0 1 0 0 EYS 346007 broad.mit.edu 37 6 66044898 66044898 + Missense_Mutation SNP A A T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr6:66044898A>T ENST00000503581.1 - 11 2278 c.1741T>A c.(1741-1743)Tgt>Agt p.C581S EYS_ENST00000370616.2_Missense_Mutation_p.C581S|EYS_ENST00000393380.2_Missense_Mutation_p.C581S|EYS_ENST00000370618.3_Missense_Mutation_p.C581S|EYS_ENST00000370621.3_Missense_Mutation_p.C581S|EYS_ENST00000342421.5_Missense_Mutation_p.C581S NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 581 EGF-like 6. 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 TCATCTTTACAAACAGCTTCA 0.318000 5 4 0 0 1 0 0 SLCO2A1 6578 broad.mit.edu 37 3 133670158 133670158 + Missense_Mutation SNP C C T rs35799156 TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr3:133670158C>T ENST00000310926.4 - 6 1028 c.755G>A c.(754-756)cGa>cAa p.R252Q SLCO2A1_ENST00000493729.1_Missense_Mutation_p.R176Q NM_005630.2 NP_005621.2 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, member 2A1 252 sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 TCCAATCCATCGGGGGTCACC 0.478000 21 31 0 0 1 0 0 CD1C 911 broad.mit.edu 37 1 158262068 158262068 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:158262068G>A ENST00000368170.3 + 3 802 c.523G>A c.(523-525)Gaa>Aaa p.E175K NM_001765.2 NP_001756.2 P29017 CD1C_HUMAN CD1c molecule 175 antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 39 all_hematologic(112;0.0378) AGGCGTCACAGAAACAGTGTA 0.463000 244 107 0 0 1 0 0 POLR2J4 84820 broad.mit.edu 37 7 44005877 44005877 + RNA SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr7:44005877C>T ENST00000427076.1 - 0 1317 NR_003655.2 CCCAGGAAGTCGTTTCGGCTG 0.662000 4 12 0 0 1 0 0 PCDHA6 56142 broad.mit.edu 37 5 140208418 140208418 + Nonsense_Mutation SNP G G T rs149898673 TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr5:140208418G>T ENST00000529310.1 + 1 856 c.742G>T c.(742-744)Gaa>Taa p.E248* PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Nonsense_Mutation_p.E248*|PCDHA4_ENST00000512229.2_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTCTGAATACGAAGTAAGAAT 0.453000 3 102 1 1 1 1 0 GRID1 2894 broad.mit.edu 37 10 87898618 87898618 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr10:87898618G>A ENST00000327946.7 - 4 769 c.684C>T c.(682-684)atC>atT p.I228I NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 228 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) TGAGCAGCAGGATGGCGCGGC 0.597000 Multiple Myeloma(13;0.14) 60 62 0 0 1 0 0 APBB1IP 54518 broad.mit.edu 37 10 26830607 26830607 + Missense_Mutation SNP T T C TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr10:26830607T>C ENST00000376236.4 + 11 1596 c.1141T>C c.(1141-1143)Tgc>Cgc p.C381R NM_019043.3 NP_061916.3 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 381 PH. blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1) 45 CACTGACTATTGCTTTGTTTT 0.294000 8 7 0 0 1 0 0 STK11IP 114790 broad.mit.edu 37 2 220466127 220466127 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr2:220466127C>T ENST00000456909.1 + 3 322 c.232C>T c.(232-234)Ctc>Ttc p.L78F STK11IP_ENST00000295641.10_Missense_Mutation_p.L89F|STK11IP_ENST00000459692.1_3'UTR Q8N1F8 S11IP_HUMAN serine/threonine kinase 11 interacting protein 89 protein localization cytoplasm protein kinase binding breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 23 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCTTCAGTTTCTCTTCGATGT 0.547000 20 30 0 0 1 0 0 TTC5 91875 broad.mit.edu 37 14 20767021 20767021 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr14:20767021G>A ENST00000258821.3 - 5 630 c.574C>T c.(574-576)Ctt>Ttt p.L192F NM_138376.2 NP_612385.2 Q8N0Z6 TTC5_HUMAN tetratricopeptide repeat domain 5 192 DNA repair cytoplasm|nucleus binding endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 15 all_cancers(95;0.00092) Epithelial(56;1.1e-06)|all cancers(55;8.07e-06) GBM - Glioblastoma multiforme(265;0.0106) GAGAAGTAAAGGGAAAGATAT 0.418000 12 11 0 0 1 0 0 ZC3HAV1 56829 broad.mit.edu 37 7 138739986 138739986 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr7:138739986C>T ENST00000242351.5 - 10 2468 c.2152G>A c.(2152-2154)Gag>Aag p.E718K ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.E840K NM_020119.3 NP_064504.2 Q7Z2W4 ZCCHV_HUMAN zinc finger CCCH-type, antiviral 1 718 PARP catalytic. response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 CAAAAGTCCTCCTGAGGACGA 0.403000 45 58 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31323136 31323136 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr5:31323136C>T ENST00000265071.2 + 12 2359 c.2094C>T c.(2092-2094)ttC>ttT p.F698F NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 698 adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 AAGCCCTTTTCCTACCCCGAC 0.522000 26 23 0 0 1 0 0 IGHE 3497 broad.mit.edu 37 14 106067994 106067994 + RNA SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr14:106067994G>A ENST00000390540.2 - 0 391 CCAGAGTCACGGAGGTGGCAT 0.607000 13 19 0 0 1 0 0 SYNDIG1L 646658 broad.mit.edu 37 14 74876343 74876343 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr14:74876343C>T ENST00000331628.3 - 2 352 c.105G>A c.(103-105)caG>caA p.Q35Q SYNDIG1L_ENST00000554823.1_Silent_p.Q35Q NM_001105579.1 NP_001099049.1 A6NDD5 SYN1L_HUMAN synapse differentiation inducing 1-like 35 response to biotic stimulus Golgi apparatus|integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1) 14 AGAGCTTTTCCTGGCAGGACC 0.662000 17 26 0 0 1 0 0 SPIB 6689 broad.mit.edu 37 19 50926222 50926222 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr19:50926222C>T ENST00000595883.1 + 4 292 c.267C>T c.(265-267)ctC>ctT p.L89L SPIB_ENST00000439922.2_Intron|SPIB_ENST00000270632.7_Silent_p.L89L|SPIB_ENST00000596074.1_Intron|SPIB_ENST00000597855.1_Silent_p.L89L NM_001243999.1|NM_001244000.1|NM_003121.4 NP_001230928.1|NP_001230929.1|NP_003112.2 Q01892 SPIB_HUMAN Spi-B transcription factor (Spi-1/PU.1 related) 89 regulation of transcription from RNA polymerase II promoter cytoplasm|microtubule cytoskeleton|nucleus sequence-specific DNA binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8) 14 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) CAGGGAACCTCGAACTGGCCC 0.647000 32 87 0 0 1 0 0 MIB1 57534 broad.mit.edu 37 18 19359527 19359527 + Silent SNP T T C TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr18:19359527T>C ENST00000261537.6 + 6 1053 c.789T>C c.(787-789)tcT>tcC p.S263S MIB1_ENST00000578646.1_3'UTR NM_020774.2 NP_065825.1 Q86YT6 MIB1_HUMAN mindbomb E3 ubiquitin protein ligase 1 263 Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5) 27 STAD - Stomach adenocarcinoma(5;0.212) TTGTACAGTCTTTGCAGCATG 0.428000 93 99 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139890152 139890152 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr8:139890152G>A ENST00000303045.6 - 3 945 c.499C>T c.(499-501)Cgc>Tgc p.R167C COL22A1_ENST00000435777.1_Missense_Mutation_p.R167C NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 167 VWFA. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) ATGCCAGCGCGGTGGGCTGCC 0.716000 HNSCC(7;0.00092) 4 29 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8465571 8465571 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr9:8465571G>A ENST00000381196.4 - 29 4152 c.3609C>T c.(3607-3609)ttC>ttT p.F1203F PTPRD_ENST00000537002.1_Silent_p.F789F|PTPRD_ENST00000360074.4_Silent_p.F1190F|PTPRD_ENST00000397611.3_Silent_p.F789F|PTPRD_ENST00000486161.1_Silent_p.F792F|PTPRD_ENST00000540109.1_Silent_p.F1203F|PTPRD_ENST00000355233.5_Silent_p.F792F|PTPRD_ENST00000397617.3_Silent_p.F782F|PTPRD_ENST00000356435.5_Silent_p.F1203F|PTPRD_ENST00000397606.3_Silent_p.F782F|PTPRD_ENST00000358503.5_Silent_p.F1181F NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1203 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CCCCCAGGGTGAACTCAGTGG 0.428000 TSP Lung(15;0.13) 16 28 0 0 1 0 0 UNK 85451 broad.mit.edu 37 17 73815826 73815826 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr17:73815826C>T ENST00000293218.3 + 13 1836 c.1836C>T c.(1834-1836)ttC>ttT p.F612F RP11-552F3.4_ENST00000586808.1_RNA|UNK_ENST00000589666.1_Silent_p.F536F Q9C0B0 UNK_HUMAN unkempt family zinc finger 536 nucleic acid binding|zinc ion binding cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 25 all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) AGAAGACTTTCGATAACAGCA 0.602000 38 80 0 0 1 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20496753 20496753 + RNA SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr15:20496753C>T ENST00000555186.1 + 0 806 NR_038836.1 TTCTTTGAGTCTGTTTTTTAT 0.378000 2 5 0 0 1 0 0 CSRNP1 64651 broad.mit.edu 37 3 39184611 39184611 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr3:39184611G>A ENST00000273153.5 - 5 1882 c.1705C>T c.(1705-1707)Ccc>Tcc p.P569S CSRNP1_ENST00000514182.1_Missense_Mutation_p.P569S NM_033027.3 NP_149016.2 Q96S65 CSRN1_HUMAN cysteine-serine-rich nuclear protein 1 569 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3) 24 TCAATAAAGGGATCTAGGGCT 0.592000 22 26 0 0 1 0 0 AZU1 566 broad.mit.edu 37 19 830930 830930 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr19:830930G>A ENST00000233997.2 + 4 604 c.583G>A c.(583-585)Ggc>Agc p.G195S NM_001700.3 NP_001691.1 P20160 CAP7_HUMAN azurocidin 1 195 Peptidase S1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability azurophil granule|extracellular region heparin binding|serine-type endopeptidase activity|toxin binding NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCGCCGCGGTGGCATCTGCAA 0.637000 16 24 0 0 1 0 0 GABRA4 2557 broad.mit.edu 37 4 46973212 46973212 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr4:46973212C>T ENST00000264318.3 - 7 1744 c.762G>A c.(760-762)cgG>cgA p.R254R NM_000809.3|NM_001204266.1|NM_001204267.1 NP_000800.2|NP_001191195.1|NP_001191196.1 P48169 GBRA4_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 4 254 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AACCCATCTTCCGTCTGAGGT 0.378000 2 0 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228884600 228884600 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr2:228884600G>A ENST00000392056.3 - 7 1016 c.970C>T c.(970-972)Cat>Tat p.H324Y SPHKAP_ENST00000344657.5_Missense_Mutation_p.H324Y NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 324 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GCTTCTGAATGATAATAATGT 0.413000 39 106 0 0 1 0 0 MMP20 9313 broad.mit.edu 37 11 102448155 102448155 + Missense_Mutation SNP A A T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr11:102448155A>T ENST00000260228.2 - 10 1366 c.1354T>A c.(1354-1356)Tac>Aac p.Y452N NM_004771.3 NP_004762.2 O60882 MMP20_HUMAN matrix metallopeptidase 20 452 Hemopexin-like 4. proteolysis|regulation of enamel mineralization extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13) BRCA - Breast invasive adenocarcinoma(274;0.0161) AAGTAAATGTAGCCTAAAAGA 0.363000 24 20 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215848073 215848073 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:215848073C>T ENST00000366943.2 - 63 13566 c.13180G>A c.(13180-13182)Gat>Aat p.D4394N USH2A_ENST00000307340.3_Missense_Mutation_p.D4394N O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4394 Fibronectin type-III 29. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TCTTTATTATCATATCTAACT 0.478000 HNSCC(13;0.011) 29 8 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3224730 3224730 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr8:3224730G>A ENST00000602557.1 - 21 3497 c.2942C>T c.(2941-2943)tCc>tTc p.S981F CSMD1_ENST00000537824.1_Missense_Mutation_p.S980F|CSMD1_ENST00000400186.3_Missense_Mutation_p.S981F|CSMD1_ENST00000602723.1_Missense_Mutation_p.S981F|CSMD1_ENST00000539096.1_Missense_Mutation_p.S980F|CSMD1_ENST00000520002.1_Missense_Mutation_p.S981F|CSMD1_ENST00000542608.1_Missense_Mutation_p.S980F Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 981 CUB 6. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ATAGTCGTGGGAACTCTCAAG 0.537000 5 1 0 0 1 0 0 PALD1 27143 broad.mit.edu 37 10 72297608 72297608 + Nonsense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr10:72297608G>A ENST00000263563.6 + 11 1537 c.1269G>A c.(1267-1269)tgG>tgA p.W423* NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 GGGCGCTGTGGAGCCTGGAGC 0.612000 37 48 0 0 1 0 0 INADL 10207 broad.mit.edu 37 1 62288660 62288660 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:62288660C>T ENST00000371158.2 + 15 1841 c.1727C>T c.(1726-1728)tCc>tTc p.S576F INADL_ENST00000316485.6_Missense_Mutation_p.S576F NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 576 PDZ 4. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 GAAGTGGATTCCTTTGATGGG 0.428000 63 85 0 0 1 0 0 PTPN13 5783 broad.mit.edu 37 4 87726520 87726520 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr4:87726520C>T ENST00000436978.1 + 44 7238 c.6758C>T c.(6757-6759)cCc>cTc p.P2253L PTPN13_ENST00000427191.2_Missense_Mutation_p.P2229L|PTPN13_ENST00000411767.2_Missense_Mutation_p.P2248L|PTPN13_ENST00000511467.1_Missense_Mutation_p.P2253L|PTPN13_ENST00000316707.6_Missense_Mutation_p.P2057L NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 2248 Tyrosine-protein phosphatase. cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) AATATACTTCCCTGTAAGTTC 0.308000 5 3 0 0 1 0 0 OR10G8 219869 broad.mit.edu 37 11 123901027 123901027 + Missense_Mutation SNP A A G rs148074790 byFrequency TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr11:123901027A>G ENST00000431524.1 + 1 731 c.698A>G c.(697-699)aAg>aGg p.K233R NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) TCAGAGGGGAAGCACAGAGCC 0.547000 3 16 0 0 1 0 0 AK8 158067 broad.mit.edu 37 9 135702433 135702433 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr9:135702433G>A ENST00000298545.3 - 8 1086 c.565C>T c.(565-567)Cac>Tac p.H189Y AK8_ENST00000477396.1_5'UTR NM_152572.2 NP_689785.1 Q96MA6 KAD8_HUMAN adenylate kinase 8 189 cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2) 23 AAGGTGGTGTGATAAATCTCT 0.567000 44 64 0 0 1 0 0 BPTF 2186 broad.mit.edu 37 17 65940425 65940425 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr17:65940425C>T ENST00000321892.4 + 22 7076 c.7015C>T c.(7015-7017)Cca>Tca p.P2339S BPTF_ENST00000306378.6_Missense_Mutation_p.P2213S|BPTF_ENST00000335221.5_Missense_Mutation_p.P2339S|BPTF_ENST00000424123.3_Missense_Mutation_p.P2200S|BPTF_ENST00000577770.1_3'UTR Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 2339 Thr-rich. brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) CCTCTTTACCCCATTGGCAAC 0.537000 37 101 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49693591 49693591 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr3:49693591C>T ENST00000296452.4 + 5 6716 c.6602C>T c.(6601-6603)cCa>cTa p.P2201L NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 2201 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) ATCAATACCCCAATTGCTGCA 0.587000 19 36 0 0 1 0 0 TNIK 23043 broad.mit.edu 37 3 170783999 170783999 + Missense_Mutation SNP A A T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr3:170783999A>T ENST00000436636.2 - 32 4320 c.3976T>A c.(3976-3978)Ttt>Att p.F1326I TNIK_ENST00000475336.1_Missense_Mutation_p.F1234I|TNIK_ENST00000488470.1_Missense_Mutation_p.F1271I|TNIK_ENST00000538048.1_Missense_Mutation_p.F1278I|TNIK_ENST00000357327.5_Missense_Mutation_p.F1297I|TNIK_ENST00000369326.5_Missense_Mutation_p.F1304I|TNIK_ENST00000284483.8_Missense_Mutation_p.F1318I|TNIK_ENST00000341852.6_Missense_Mutation_p.F1242I|TNIK_ENST00000470834.1_Missense_Mutation_p.F1289I|TNIK_ENST00000460047.1_Missense_Mutation_p.F1263I NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 1326 CNH. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) TCACATAGAAACTTTAACCTT 0.398000 13 25 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136566687 136566687 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr2:136566687C>T ENST00000264162.2 - 8 3240 c.3230G>A c.(3229-3231)gGg>gAg p.G1077E NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1077 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) GGGAAATTCCCCTGAGCCATA 0.512000 13 18 0 0 1 0 0 IFT122 55764 broad.mit.edu 37 3 129233282 129233282 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr3:129233282G>A ENST00000296266.3 + 26 3383 c.3191G>A c.(3190-3192)aGg>aAg p.R1064K IFT122_ENST00000349441.2_Missense_Mutation_p.R903K|IFT122_ENST00000348417.2_Missense_Mutation_p.R1013K|IFT122_ENST00000347300.2_Missense_Mutation_p.R954K|IFT122_ENST00000507564.1_Missense_Mutation_p.R1006K|IFT122_ENST00000504021.1_Missense_Mutation_p.R890K|IFT122_ENST00000440957.2_Missense_Mutation_p.R804K|IFT122_ENST00000431818.2_Missense_Mutation_p.R863K NM_052985.2 NP_443711.2 Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) 1013 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 GGTGCCTACAGGCTGGCCCGG 0.607000 28 26 0 0 1 0 0 ALDH4A1 8659 broad.mit.edu 37 1 19201979 19201979 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:19201979G>A ENST00000375341.3 - 13 1614 c.1357C>T c.(1357-1359)Ctg>Ttg p.L453L ALDH4A1_ENST00000290597.5_Silent_p.L453L|ALDH4A1_ENST00000538839.1_Silent_p.L402L|ALDH4A1_ENST00000538309.1_Silent_p.L393L|RP13-279N23.2_ENST00000494072.3_3'UTR NM_003748.3 NP_003739.2 P30038 AL4A1_HUMAN aldehyde dehydrogenase 4 family, member A1 453 proline biosynthetic process|proline catabolic process mitochondrial matrix 1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1) 15 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) NADH(DB00157) TACACAGACAGTACAGGCCCG 0.637000 OREG0013164 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 68 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149473471 149473471 + RNA SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr7:149473471G>A ENST00000378016.2 + 0 87 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TCCGTGTGGAGGAGGAAGTGG 0.642000 9 16 0 0 1 0 0 SF3B1 23451 broad.mit.edu 37 2 198288628 198288628 + Silent SNP G G A rs143444124 by1000genomes TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr2:198288628G>A ENST00000335508.5 - 2 190 c.99C>T c.(97-99)ctC>ctT p.L33L SF3B1_ENST00000409915.4_Silent_p.L33L|SF3B1_ENST00000414963.2_Silent_p.L33L|SF3B1_ENST00000487698.1_Silent_p.L33L NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa 33 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) CTGTAGAATCGAGGCCCACTC 0.393000 Mis myelodysplastic syndrome 17 37 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 71029486 71029486 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr12:71029486C>T ENST00000334414.6 - 2 460 c.416G>A c.(415-417)gGa>gAa p.G139E PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550358.1_Missense_Mutation_p.G139E|PTPRB_ENST00000551525.1_Missense_Mutation_p.G138E NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 0 Fibronectin type-III 2. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GACCAGTTTTCCCTCCTTGTT 0.413000 7 7 0 0 1 0 0 LINC00674 100499466 broad.mit.edu 37 17 66110654 66110654 + RNA SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr17:66110654G>A ENST00000435469.2 + 0 208 CTTGACTACGGAGGGGTTGCC 0.393000 11 14 0 0 1 0 0 CACNA2D3 55799 broad.mit.edu 37 3 55052249 55052249 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr3:55052249G>A ENST00000474759.1 + 35 2940 c.2892G>A c.(2890-2892)caG>caA p.Q964Q CACNA2D3_ENST00000415676.2_Silent_p.Q964Q|CACNA2D3_ENST00000490478.1_Silent_p.Q870Q|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000288197.5_Silent_p.Q964Q NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 964 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) AATTGAAACAGACCCTGGAGC 0.468000 4 5 0 0 1 0 0 HCAR3 8843 broad.mit.edu 37 12 123200954 123200954 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr12:123200954G>A ENST00000528880.2 - 1 485 c.331C>T c.(331-333)Cgc>Tgc p.R111C HCAR1_ENST00000356987.2_Intron NM_006018.2 NP_006009.2 P49019 HCAR3_HUMAN hydroxycarboxylic acid receptor 3 111 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 9 Mepenzolate(DB04843)|Niacin(DB00627) CTGCCCTGGCGGTTCATGGCA 0.567000 36 23 0 0 1 0 0 SAMD14 201191 broad.mit.edu 37 17 48191601 48191601 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr17:48191601C>T ENST00000330175.4 - 8 1209 c.892G>A c.(892-894)Gag>Aag p.E298K SAMD14_ENST00000503131.1_Missense_Mutation_p.E326K NM_001257359.1 NP_001244288.1 Q8IZD0 SAM14_HUMAN sterile alpha motif domain containing 14 298 breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1) 15 CATTTGGCCTCCTGCCAGGGC 0.592000 32 29 0 0 1 0 0 ATF6 22926 broad.mit.edu 37 1 161833035 161833035 + Missense_Mutation SNP G G C TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:161833035G>C ENST00000367942.3 + 14 1719 c.1652G>C c.(1651-1653)aGt>aCt p.S551T NM_007348.3 NP_031374.2 P18850 ATF6A_HUMAN activating transcription factor 6 551 positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1) 34 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.00953) TCACCCAGAAGTTATCAAGAC 0.353000 36 126 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2855630 2855630 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr8:2855630C>T ENST00000602557.1 - 55 8838 c.8283G>A c.(8281-8283)gtG>gtA p.V2761V CSMD1_ENST00000537824.1_Silent_p.V2760V|CSMD1_ENST00000400186.3_Silent_p.V2703V|CSMD1_ENST00000602723.1_Silent_p.V2703V|CSMD1_ENST00000520002.1_Silent_p.V2761V|CSMD1_ENST00000542608.1_Silent_p.V2702V Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2761 Sushi 19. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AGGTGAAATTCACGACATCAT 0.557000 26 8 0 0 1 0 0 CHL1 10752 broad.mit.edu 37 3 382568 382568 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr3:382568C>T ENST00000256509.2 + 6 1119 c.477C>T c.(475-477)ctC>ctT p.L159L CHL1_ENST00000397491.2_Silent_p.L159L NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 159 Ig-like C2-type 2. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) CCAAAGGCCTCCCACCTTTAC 0.393000 16 19 0 0 1 0 0 KCNJ15 3772 broad.mit.edu 37 21 39671687 39671687 + Silent SNP C C T rs140458855 TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr21:39671687C>T ENST00000398930.1 + 4 858 c.504C>T c.(502-504)atC>atT p.I168I KCNJ15_ENST00000398938.2_Silent_p.I168I|KCNJ15_ENST00000398932.1_Silent_p.I168I|KCNJ15_ENST00000398934.1_Silent_p.I168I|KCNJ15_ENST00000328656.3_Silent_p.I168I Q99712 IRK15_HUMAN potassium inwardly-rectifying channel, subfamily J, member 15 168 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity p.I168I(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 24 TGGCCAAAATCGCCAGACCCA 0.502000 22 31 0 0 1 0 0 NEIL3 55247 broad.mit.edu 37 4 178272600 178272600 + Silent SNP C C T rs138744063 TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr4:178272600C>T ENST00000264596.3 + 7 1054 c.936C>T c.(934-936)tcC>tcT p.S312S RP11-376O6.2_ENST00000506895.1_RNA NM_018248.2 NP_060718.2 Q8TAT5 NEIL3_HUMAN nei endonuclease VIII-like 3 (E. coli) 312 base-excision repair|nucleotide-excision repair nucleus bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding p.S312S(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164) all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191) TTATGGACTCCGTGGCTCGGA 0.413000 Base excision repair (BER), DNA glycosylases 43 59 0 0 1 0 0 MYOF 26509 broad.mit.edu 37 10 95119734 95119734 + Splice_Site SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr10:95119734G>A ENST00000371501.4 - 29 3098 c.2974_splice c.e29-1 p.G992_splice MYOF_ENST00000359263.4_Splice_Site_p.G992_splice|MYOF_ENST00000371502.4_Splice_Site_p.G992_splice|MYOF_ENST00000358334.5_Splice_Site_p.G979_splice Q9NZM1 MYOF_HUMAN myoferlin 992 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 CATATTCCCAGCCTGGAACAG 0.478000 29 52 0 0 1 0 0 C1orf172 126695 broad.mit.edu 37 1 27278292 27278292 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:27278292C>T ENST00000320567.5 - 2 668 c.580G>A c.(580-582)Gat>Aat p.D194N NM_152365.2 NP_689578.2 Q8NAX2 CA172_HUMAN chromosome 1 open reading frame 172 194 NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) GGTGGGGGATCGGCCAGTGGC 0.617000 30 38 0 0 1 0 0 DAND5 199699 broad.mit.edu 37 19 13084348 13084348 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr19:13084348C>T ENST00000317060.2 + 2 649 c.470C>T c.(469-471)cCc>cTc p.P157L DAND5_ENST00000585548.1_3'UTR NM_152654.2 NP_689867.1 Q8N907 DAND5_HUMAN DAN domain family member 5, BMP antagonist 157 CTCK. extracellular region kidney(2)|lung(3)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(19;1.87e-18) CGTTGGGCACCCGTGGTCCTG 0.592000 64 90 0 0 1 0 0 NMBR 4829 broad.mit.edu 37 6 142396923 142396923 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr6:142396923G>A ENST00000258042.1 - 3 1175 c.1035C>T c.(1033-1035)tcC>tcT p.S345S NMBR_ENST00000480652.1_5'UTR NM_002511.2 NP_002502.2 P28336 NMBR_HUMAN neuromedin B receptor 345 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) TCTCTTGATAGGACTTCCTCC 0.453000 19 22 0 0 1 0 0 KCNT1 57582 broad.mit.edu 37 9 138650353 138650353 + Splice_Site SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr9:138650353G>A ENST00000298480.5 + 10 927 c.854_splice c.e10+1 p.G285_splice KCNT1_ENST00000487664.1_Splice_Site_p.G237_splice|KCNT1_ENST00000488444.2_Splice_Site_p.G266_splice|KCNT1_ENST00000371757.2_Splice_Site_p.G285_splice|KCNT1_ENST00000490355.2_Splice_Site_p.G266_splice|KCNT1_ENST00000486577.2_Splice_Site_p.G246_splice|KCNT1_ENST00000263604.3_Splice_Site_p.G266_splice|KCNT1_ENST00000491806.2_Splice_Site_p.G252_splice B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 285 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) CGTTTTCACGGGGTGAGTGCC 0.612000 45 48 0 0 1 0 0 ITGAX 3687 broad.mit.edu 37 16 31372470 31372470 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr16:31372470G>A ENST00000268296.4 + 9 1069 c.948G>A c.(946-948)gtG>gtA p.V316V ITGAX_ENST00000562522.1_Silent_p.V316V NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 316 VWFA. blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 TATTTAAAGTGGAGGACTTTG 0.418000 63 46 0 0 1 0 0 ENC1 8507 broad.mit.edu 37 5 73931247 73931247 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr5:73931247G>A ENST00000302351.4 - 2 2194 c.1064C>T c.(1063-1065)tCa>tTa p.S355L ENC1_ENST00000537006.1_Missense_Mutation_p.S355L|ENC1_ENST00000510316.1_Missense_Mutation_p.S282L NM_003633.3 NP_003624.1 O14682 ENC1_HUMAN ectodermal-neural cortex 1 (with BTB domain) 355 nervous system development cytoplasm|cytoskeleton|nuclear matrix actin binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 20 all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.45e-59) GACATCTTTTGAGACCCCATT 0.547000 164 126 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 69009287 69009287 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr8:69009287G>A ENST00000288368.4 + 22 2681 c.2404G>A c.(2404-2406)Gat>Aat p.D802N PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 802 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 GGCCATCATTGATGGGAAGAA 0.408000 76 25 0 0 1 0 0 ZFP64 55734 broad.mit.edu 37 20 50769650 50769650 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr20:50769650G>A ENST00000216923.4 - 6 1430 c.1081C>T c.(1081-1083)Cac>Tac p.H361Y ZFP64_ENST00000346617.4_Missense_Mutation_p.H307Y|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.H359Y|ZFP64_ENST00000477786.1_Intron NM_018197.2|NM_199426.1 NP_060667.2|NP_955458.1 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 361 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 ATACGCTCGTGGATGCGCAGG 0.597000 46 75 0 0 1 0 0 SLC6A1 6529 broad.mit.edu 37 3 11076324 11076324 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr3:11076324G>A ENST00000287766.4 + 15 2056 c.1635G>A c.(1633-1635)atG>atA p.M545I SLC6A1_ENST00000536032.1_Missense_Mutation_p.M367I NM_003042.3 NP_003033.3 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter transporter), member 1 545 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) TGTCTTCCATGGTCCTCATCC 0.552000 42 59 0 0 1 0 0 PSD4 23550 broad.mit.edu 37 2 113950937 113950937 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr2:113950937C>T ENST00000245796.6 + 8 2217 c.2022C>T c.(2020-2022)ttC>ttT p.F674F PSD4_ENST00000441564.2_Silent_p.F646F NM_012455.2 NP_036587.2 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 674 SEC7. regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CGGGGATCTTCCCCTCAGTAG 0.582000 29 24 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34087782 34087782 + Missense_Mutation SNP G G C TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:34087782G>C ENST00000373381.4 - 37 5988 c.5812C>G c.(5812-5814)Cac>Gac p.H1938D CSMD2_ENST00000373380.1_Missense_Mutation_p.H811D|CSMD2_ENST00000373388.2_Missense_Mutation_p.H37D|CSMD2_ENST00000373377.1_Missense_Mutation_p.H37D NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1898 Sushi 11. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TACTCCAAGTGGAAGCCAGCT 0.517000 79 108 0 0 1 0 0 SAGE1 55511 broad.mit.edu 37 X 134988650 134988650 + Nonsense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chrX:134988650C>T ENST00000535938.1 + 7 843 c.676C>T c.(676-678)Cga>Tga p.R226* SAGE1_ENST00000370709.3_Nonsense_Mutation_p.R226*|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000324447.3_Nonsense_Mutation_p.R226* NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 226 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) GTTGACTCTTCGACCACGGCG 0.428000 40 54 0 0 1 0 0 RGPD4 285190 broad.mit.edu 37 2 108488310 108488310 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr2:108488310C>T ENST00000408999.3 + 20 3927 c.3850C>T c.(3850-3852)Cat>Tat p.H1284Y RGPD4_ENST00000354986.4_Missense_Mutation_p.H1284Y NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1284 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 AAATCTTTTCCATTTTGGTGA 0.408000 49 59 0 0 1 0 0 SLC35F4 341880 broad.mit.edu 37 14 58063597 58063597 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr14:58063597C>T ENST00000339762.6 - 1 18 c.19G>A c.(19-21)Gat>Aat p.D7N SLC35F4_ENST00000557430.1_Intron|SLC35F4_ENST00000556826.1_Intron|SLC35F4_ENST00000554729.1_5'UTR solute carrier family 35, member F4 breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TGGAAGAGATCCAAGAGTAGT 0.463000 12 17 0 0 1 0 0 TRMT44 152992 broad.mit.edu 37 4 8469678 8469678 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr4:8469678C>T ENST00000389737.4 + 9 1532 c.1532C>T c.(1531-1533)tCc>tTc p.S511F TRMT44_ENST00000513449.2_Missense_Mutation_p.S270F NM_152544.2 NP_689757.2 tRNA methyltransferase 44 homolog (S. cerevisiae) TACCCTTCCTCCAGAGAAGCT 0.507000 34 37 0 0 1 0 0 CD177 57126 broad.mit.edu 37 19 43859932 43859932 + RNA SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr19:43859932G>A ENST00000378009.4 + 0 541 CD177_ENST00000607517.1_RNA NM_020406.2 NP_065139.2 Q8N6Q3 CD177_HUMAN CD177 molecule blood coagulation|leukocyte migration anchored to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 Prostate(69;0.00682) CAGGCTCAGGGGAGGTAAGCC 0.592000 24 39 0 0 1 0 0 SLC34A2 10568 broad.mit.edu 37 4 25678325 25678325 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr4:25678325G>A ENST00000382051.3 + 13 2077 c.2027G>A c.(2026-2028)gGt>gAt p.G676D SLC34A2_ENST00000504570.1_Missense_Mutation_p.G675D|SLC34A2_ENST00000503434.1_Missense_Mutation_p.G675D NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 676 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) GAGGCTCAGGGTGAGGTCCCT 0.577000 T ROS1 NSCLC 25 33 0 0 1 0 0 GBP6 163351 broad.mit.edu 37 1 89848403 89848403 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:89848403G>A ENST00000370456.4 + 8 1426 c.1333G>A c.(1333-1335)Gac>Aac p.D445N GBP6_ENST00000535065.1_Missense_Mutation_p.D315N NM_198460.2 NP_940862.2 Q6ZN66 GBP6_HUMAN guanylate binding protein family, member 6 445 GTP binding|GTPase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(277;0.0908) all cancers(265;0.0108)|Epithelial(280;0.0398) GATTGAACAGGACTATTGGCA 0.463000 19 15 0 0 1 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68242764 68242764 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr14:68242764G>A ENST00000347230.4 - 26 5172 c.5034C>T c.(5032-5034)ccC>ccT p.P1678P ZFYVE26_ENST00000555452.1_Silent_p.P1678P NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 1678 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) GCATGAACAGGGGGTTAGAGG 0.527000 53 74 0 0 1 0 0 DVL2 1856 broad.mit.edu 37 17 7132319 7132319 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr17:7132319G>A ENST00000005340.5 - 9 1285 c.1003C>T c.(1003-1005)Cgg>Tgg p.R335W DVL2_ENST00000575458.1_Missense_Mutation_p.R329W NM_004422.2 NP_004413.1 O14641 DVL2_HUMAN dishevelled segment polarity protein 2 335 PDZ. canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter cytosol|nucleus|plasma membrane frizzled binding|identical protein binding|signal transducer activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1) 25 CTCAGCACCCGCACAGCGTCA 0.532000 3 47 0 0 1 0 0 APBB1 322 broad.mit.edu 37 11 6425049 6425049 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr11:6425049G>A ENST00000389906.2 - 3 824 c.725C>T c.(724-726)tCc>tTc p.S242F APBB1_ENST00000530885.1_Missense_Mutation_p.S22F|APBB1_ENST00000311051.3_Missense_Mutation_p.S242F|APBB1_ENST00000533407.1_5'UTR|APBB1_ENST00000299402.6_Missense_Mutation_p.S242F NM_001257325.1 NP_001244254.1 O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 242 apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding p.S242F(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) GTTCCAGAAGGAATCTGCCAG 0.602000 16 28 0 0 1 0 0 GDI2 2665 broad.mit.edu 37 10 5836878 5836878 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr10:5836878G>A ENST00000380191.4 - 4 648 c.358C>T c.(358-360)Cct>Tct p.P120S GDI2_ENST00000380132.4_Missense_Mutation_p.P124S|GDI2_ENST00000380181.3_Intron NM_001115156.1|NM_001494.3 NP_001108628.1|NP_001485.2 P50395 GDIB_HUMAN GDP dissociation inhibitor 2 120 protein transport|small GTPase mediated signal transduction cell surface|cytosol|membrane protein binding|Rab GDP-dissociation inhibitor activity NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1) 10 TCAGTGGAAGGAACCTTGTAG 0.368000 17 16 0 0 1 0 0 NDUFA13 51079 broad.mit.edu 37 19 19627027 19627027 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr19:19627027G>A ENST00000252576.5 + 1 229 c.229G>A c.(229-231)Gaa>Aaa p.E77K NDUFA13_ENST00000507754.3_5'UTR NM_015965.6 NP_057049.5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1) 12 CCCGGGACCGGAAGTGTGGGA 0.622000 26 41 0 0 1 0 0 IGHV3-64 28414 broad.mit.edu 37 14 107113794 107113794 + RNA SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr14:107113794G>A ENST00000454421.2 - 0 377 CCCATTTGAAGATACAGCGTG 0.473000 97 125 0 0 1 0 0 FCRLA 84824 broad.mit.edu 37 1 161683045 161683045 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:161683045C>T ENST00000367959.2 + 6 1266 c.1024C>T c.(1024-1026)Cac>Tac p.H342Y FCRLA_ENST00000236938.6_Missense_Mutation_p.H336Y|FCRLA_ENST00000367949.2_Missense_Mutation_p.H152Y|FCRLA_ENST00000367950.1_Missense_Mutation_p.H112Y|FCRLA_ENST00000294796.4_Missense_Mutation_p.H185Y|FCRLA_ENST00000367953.3_Missense_Mutation_p.H325Y|FCRLA_ENST00000367957.2_Missense_Mutation_p.H196Y|FCRLA_ENST00000350710.3_Missense_Mutation_p.H101Y|FCRLA_ENST00000309691.6_Missense_Mutation_p.H230Y|FCRLA_ENST00000546024.1_Missense_Mutation_p.H247Y|FCRLA_ENST00000540926.1_Missense_Mutation_p.H325Y|FCRLA_ENST00000540521.1_Missense_Mutation_p.H202Y|FCRLA_ENST00000349527.4_Missense_Mutation_p.H224Y|FCRLA_ENST00000470841.1_3'UTR NM_001184866.1 NP_001171795.1 Q7L513 FCRLA_HUMAN Fc receptor-like A 319 cell differentiation cytoplasm|extracellular region p.H319Y(1) breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1) 34 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) TCATCTGTATCACCAGATGGG 0.577000 17 46 0 0 1 0 0 ZNF234 10780 broad.mit.edu 37 19 44661338 44661338 + Missense_Mutation SNP A A T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr19:44661338A>T ENST00000426739.2 + 6 1427 c.1169A>T c.(1168-1170)cAt>cTt p.H390L ZNF234_ENST00000592437.1_Missense_Mutation_p.H390L NM_006630.2 NP_006621.1 Q14588 ZN234_HUMAN zinc finger protein 234 390 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1) 23 Prostate(69;0.0435) TTTCAGGCCCATCAGGGAGTC 0.438000 7 16 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94411922 94411922 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr4:94411922C>T ENST00000282020.4 + 12 2249 c.1991C>T c.(1990-1992)tCc>tTc p.S664F GRID2_ENST00000510992.1_Missense_Mutation_p.S569F NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 664 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) ATTGAAAGTTCCATCCAGTAA 0.393000 4 3 0 0 1 0 0 GPRC5C 55890 broad.mit.edu 37 17 72436695 72436695 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr17:72436695C>T ENST00000392627.1 + 2 2041 c.915C>T c.(913-915)atC>atT p.I305I GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000392629.2_Silent_p.I272I NM_022036.2 NP_071319.2 Q9NQ84 GPC5C_HUMAN G protein-coupled receptor, family C, group 5, member C 260 cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 17 TGGTGTGGATCGTCATGTATA 0.622000 41 82 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55541525 55541525 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr8:55541525G>A ENST00000220676.1 + 4 5231 c.5083G>A c.(5083-5085)Gaa>Aaa p.E1695K NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1695 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) TATGTTGCAGGAATTCCAGGA 0.403000 36 41 0 0 1 0 0 CNGA2 1260 broad.mit.edu 37 X 150906989 150906989 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chrX:150906989C>T ENST00000329903.4 + 1 67 c.34C>T c.(34-36)Cca>Tca p.P12S NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 12 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) GAAGAGCTCCCCAGCCAATAA 0.512000 56 10 0 0 1 0 0 ALPK3 57538 broad.mit.edu 37 15 85406065 85406065 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr15:85406065C>T ENST00000258888.5 + 10 5102 c.4935C>T c.(4933-4935)atC>atT p.I1645I NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 1645 Alpha-type protein kinase. heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) GCACGTGCATCATCAAGGTGT 0.582000 43 26 0 0 1 0 0 LINC00842 643650 broad.mit.edu 37 10 47133761 47133761 + RNA SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr10:47133761C>T ENST00000422732.2 - 0 435 NR_033957.1 ACAGGGCTTTCCTAACTTCAC 0.458000 4 31 0 0 1 0 0 BMPR1B 658 broad.mit.edu 37 4 96046263 96046263 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr4:96046263C>T ENST00000515059.1 + 8 859 c.576C>T c.(574-576)ctC>ctT p.L192L BMPR1B_ENST00000394931.1_Silent_p.L192L|BMPR1B_ENST00000264568.4_Silent_p.L192L|BMPR1B_ENST00000440890.2_Silent_p.L222L NM_001203.2 NP_001194.1 O00238 BMR1B_HUMAN bone morphogenetic protein receptor, type IB 192 GS. BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation receptor complex ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.51e-07) GATCAGGCCTCCCTCTGCTGG 0.423000 7 12 0 0 1 0 0 OR4K13 390433 broad.mit.edu 37 14 20502075 20502075 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr14:20502075G>A ENST00000315693.2 - 1 844 c.843C>T c.(841-843)ctC>ctT p.L281L NM_001004714.1 NP_001004714.1 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, member 13 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) TAGGATTTAAGAGAGGTGTGA 0.333000 8 10 0 0 1 0 0 SETX 23064 broad.mit.edu 37 9 135158747 135158747 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr9:135158747G>A ENST00000372169.2 - 19 6632 c.6450C>T c.(6448-6450)atC>atT p.I2150I SETX_ENST00000393220.1_Silent_p.I2150I|SETX_ENST00000224140.5_Silent_p.I2150I Q7Z333 SETX_HUMAN senataxin 2150 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) TGCAGCAGATGATATGGGACT 0.453000 52 67 0 0 1 0 0 FAM117A 81558 broad.mit.edu 37 17 47799872 47799872 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr17:47799872G>A ENST00000240364.2 - 3 530 c.451C>T c.(451-453)Cac>Tac p.H151Y FAM117A_ENST00000514018.1_5'UTR|FAM117A_ENST00000513602.1_5'UTR NM_030802.3 NP_110429.1 Q9C073 F117A_HUMAN family with sequence similarity 117, member A 151 haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 17 TCTTTTCGGTGGTCTGTGCTG 0.582000 10 14 0 0 1 0 0 ARAP2 116984 broad.mit.edu 37 4 36150095 36150095 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr4:36150095C>T ENST00000303965.4 - 17 3421 c.2932G>A c.(2932-2934)Gaa>Aaa p.E978K NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 978 PH 3. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 AACACACGTTCGGAGGGTAAG 0.338000 9 7 0 0 1 0 0 PLS1 5357 broad.mit.edu 37 3 142396891 142396891 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr3:142396891C>T ENST00000337777.3 + 6 728 c.515C>T c.(514-516)tCt>tTt p.S172F PLS1_ENST00000457734.2_Missense_Mutation_p.S172F|PLS1_ENST00000497002.1_Missense_Mutation_p.S172F NM_002670.2 NP_002661.2 Q14651 PLSI_HUMAN plastin 1 172 Actin-binding 1.|CH 1. cytoplasm actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 27 ATCAACTTATCTGAACCAGAT 0.284000 16 13 0 0 1 0 0 C8B 732 broad.mit.edu 37 1 57417794 57417794 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:57417794C>T ENST00000543257.1 - 6 1003 c.437G>A c.(436-438)gGt>gAt p.G146D C8B_ENST00000371237.4_Missense_Mutation_p.G198D|C8B_ENST00000535057.1_Missense_Mutation_p.G136D NM_001278543.1 NP_001265472.1 P07358 CO8B_HUMAN complement component 8, beta polypeptide 198 LDL-receptor class A. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 GGAGCATCCACCTGCATAATA 0.478000 31 46 0 0 1 0 0 CHL1 10752 broad.mit.edu 37 3 407799 407799 + Splice_Site SNP G G T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr3:407799G>T ENST00000256509.2 + 15 2393 c.e15+1 CHL1_ENST00000397491.2_Splice_Site|CHL1-AS1_ENST00000417612.1_RNA NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) AAGATGGCAGGTAGGTAAACT 0.373000 13 7 1.15088e-07 1.15638e-07 1 1 0 GRM1 2911 broad.mit.edu 37 6 146678764 146678764 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr6:146678764C>T ENST00000392299.2 + 6 2006 c.1536C>T c.(1534-1536)atC>atT p.I512I GRM1_ENST00000282753.1_Silent_p.I512I|GRM1_ENST00000507907.1_Silent_p.I512I|GRM1_ENST00000355289.4_Silent_p.I512I|GRM1_ENST00000492807.2_Silent_p.I512I|GRM1_ENST00000361719.2_Silent_p.I512I Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 512 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) ATTACAAAATCCAGATGAACA 0.443000 22 33 0 0 1 0 0 EGF 1950 broad.mit.edu 37 4 110932382 110932382 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr4:110932382G>A ENST00000265171.5 + 24 3840 c.3395G>A c.(3394-3396)aGg>aAg p.R1132K EGF_ENST00000509793.1_Missense_Mutation_p.R1090K|EGF_ENST00000503392.1_Missense_Mutation_p.R1091K NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor 1132 angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) ACTTCATGGAGGCAGGAGCCC 0.448000 26 20 0 0 1 0 0 CNTN1 1272 broad.mit.edu 37 12 41330595 41330595 + Nonsense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr12:41330595G>A ENST00000551295.2 + 10 1115 c.998G>A c.(997-999)tGg>tAg p.W333* CNTN1_ENST00000547849.1_Nonsense_Mutation_p.W333*|CNTN1_ENST00000347616.1_Nonsense_Mutation_p.W333*|CNTN1_ENST00000547702.1_Nonsense_Mutation_p.W333*|CNTN1_ENST00000348761.2_Nonsense_Mutation_p.W322*|CNTN1_ENST00000360099.3_Nonsense_Mutation_p.W333* NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 333 Ig-like C2-type 4. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TTCCCTGAGTGGGTAGAACAC 0.413000 6 9 0 0 1 0 0 CEP85 64793 broad.mit.edu 37 1 26594983 26594983 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:26594983C>T ENST00000252992.4 + 8 1482 c.1351C>T c.(1351-1353)Cgt>Tgt p.R451C CEP85_ENST00000451429.2_Missense_Mutation_p.R400C NM_022778.2 NP_073615.2 Q6P2H3 CEP85_HUMAN centrosomal protein 85kDa 451 centrosome|nucleolus|spindle pole breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2) 25 GGTCAAAGGTCGTGATAAACA 0.473000 19 30 0 0 1 0 0 GPR116 221395 broad.mit.edu 37 6 46827084 46827084 + Missense_Mutation SNP C C A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr6:46827084C>A ENST00000283296.7 - 17 2844 c.2556G>T c.(2554-2556)caG>caT p.Q852H GPR116_ENST00000362015.4_Missense_Mutation_p.Q852H|GPR116_ENST00000545669.1_Missense_Mutation_p.Q281H|GPR116_ENST00000456426.2_Missense_Mutation_p.Q710H|GPR116_ENST00000265417.7_Missense_Mutation_p.Q852H NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 852 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) TGCTGCTCATCTGCACATTAG 0.458000 14 21 3.73148e-12 3.78556e-12 1 1 0 GRK5 2869 broad.mit.edu 37 10 121212313 121212313 + Missense_Mutation SNP A A G TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr10:121212313A>G ENST00000392870.2 + 14 1864 c.1535A>G c.(1534-1536)cAa>cGa p.Q512R GRK5_ENST00000369108.3_Missense_Mutation_p.Q407R|GRK5_ENST00000473264.1_3'UTR NM_005308.2 NP_005299.1 P34947 GRK5_HUMAN G protein-coupled receptor kinase 5 512 AGC-kinase C-terminal. G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway cytoplasm|plasma membrane|soluble fraction ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1) 27 Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249) all cancers(201;0.0227) ATCCCATGGCAAAACGAGGTG 0.582000 17 16 0 0 1 0 0 FBXO16 157574 broad.mit.edu 37 8 28309810 28309810 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr8:28309810G>A ENST00000380254.2 - 6 839 c.691C>T c.(691-693)Cgt>Tgt p.R231C FBXO16_ENST00000517436.1_5'UTR|FBXO16_ENST00000346498.2_Missense_Mutation_p.R219C|RP11-181B11.2_ENST00000518819.1_RNA|FBXO16_ENST00000518734.1_Missense_Mutation_p.R219C|RP11-181B11.2_ENST00000523935.1_RNA NM_001258211.1|NM_172366.3 NP_001245140.1|NP_758954.1 Q8IX29 FBX16_HUMAN F-box protein 16 231 large_intestine(2)|ovary(1) 3 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249) TAATTAAAACGAATGATATCT 0.423000 25 4 0 0 1 0 0 NID2 22795 broad.mit.edu 37 14 52496381 52496381 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr14:52496381G>A ENST00000216286.5 - 10 2284 c.2285C>T c.(2284-2286)cCt>cTt p.P762L NID2_ENST00000541773.1_Missense_Mutation_p.P709L NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 762 EGF-like 2. basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) ATCATAGCAAGGATTCCCCGG 0.517000 15 26 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47955074 47955074 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr7:47955074C>T ENST00000289672.2 - 8 1233 c.1183G>A c.(1183-1185)Gac>Aac p.D395N NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 395 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 ttactggggtctgagtcttcc 0.398000 23 25 0 0 1 0 0 ZNF329 79673 broad.mit.edu 37 19 58640040 58640040 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr19:58640040G>A ENST00000598312.1 - 4 1064 c.831C>T c.(829-831)caC>caT p.H277H ZNF329_ENST00000358067.4_Silent_p.H277H NM_024620.3 NP_078896.3 Q86UD4 ZN329_HUMAN zinc finger protein 329 277 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1) 20 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216) GAATTCTCTGGTGCTGTGTCA 0.433000 62 51 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76450748 76450748 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr17:76450748G>A ENST00000389840.5 - 64 10292 c.10168C>T c.(10168-10170)Ctg>Ttg p.L3390L DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.L3399L dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TCTGTCAGCAGGCTCAAGGGA 0.587000 25 71 0 0 1 0 0 CEACAM1 634 broad.mit.edu 37 19 43026335 43026335 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr19:43026335G>A ENST00000161559.6 - 3 578 c.444C>T c.(442-444)tcC>tcT p.S148S LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000599389.1_Silent_p.S148S|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000358394.3_Silent_p.S148S|CEACAM1_ENST00000352591.5_Silent_p.S148S|CEACAM1_ENST00000351134.3_Intron|CEACAM1_ENST00000403444.3_Silent_p.S148S|CEACAM1_ENST00000308072.4_Silent_p.S108S|CEACAM1_ENST00000403461.1_Silent_p.S148S NM_001712.4 NP_001703.2 P13688 CEAM1_HUMAN carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) 148 Ig-like C2-type 1. angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway extracellular region|integral to plasma membrane|membrane fraction breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 17 Prostate(69;0.00682) GBM - Glioblastoma multiforme(486;0.00148) Arcitumomab(DB00113) TGCTGGAGATGGAGGGCTTGG 0.488000 87 128 0 0 1 0 0 SERPINB2 5055 broad.mit.edu 37 18 61569054 61569054 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr18:61569054G>A ENST00000457692.1 + 7 949 c.616G>A c.(616-618)Gga>Aga p.G206R SERPINB2_ENST00000299502.4_Missense_Mutation_p.G206R|SERPINB2_ENST00000482254.1_3'UTR NM_001143818.1 NP_001137290.1 P05120 PAI2_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 2 206 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) CTACTTCAAAGGAAAGTGGAA 0.383000 4 5 0 0 1 0 0 TMEM74B 55321 broad.mit.edu 37 20 1161566 1161566 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr20:1161566C>T ENST00000381894.3 - 2 1368 c.697G>A c.(697-699)Gat>Aat p.D233N NM_018354.1 NP_060824.1 Q9NUR3 CT046_HUMAN transmembrane protein 74B 233 integral to membrane protein binding TGGCCCCCATCCCCATTGAGC 0.597000 24 36 0 0 1 0 0 ZNF608 57507 broad.mit.edu 37 5 123980230 123980230 + Missense_Mutation SNP T T A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr5:123980230T>A ENST00000306315.5 - 5 4265 c.3830A>T c.(3829-3831)aAa>aTa p.K1277I ZNF608_ENST00000504926.1_Missense_Mutation_p.K850I NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 1277 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) ACCACTCTCTTTATTAGGAGT 0.423000 160 122 0 0 1 0 0 MYB 4602 broad.mit.edu 37 6 135517079 135517079 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr6:135517079C>T ENST00000341911.5 + 9 1341 c.1142C>T c.(1141-1143)aCc>aTc p.T381I MYB_ENST00000527615.1_Missense_Mutation_p.T381I|MYB-AS1_ENST00000455534.1_RNA|MYB_ENST00000367814.4_Missense_Mutation_p.T381I|MYB_ENST00000534121.1_Missense_Mutation_p.T381I|MYB_ENST00000528774.1_Missense_Mutation_p.T378I|MYB_ENST00000534044.1_Missense_Mutation_p.T381I|MYB_ENST00000316528.8_Missense_Mutation_p.T381I|MYB_ENST00000525369.1_Intron|MYB_ENST00000442647.2_Missense_Mutation_p.T378I|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000533624.1_Missense_Mutation_p.T346I NM_001130173.1|NM_001161656.1|NM_001161658.1 NP_001123645.1|NP_001155128.1|NP_001155130.1 P10242 MYB_HUMAN v-myb avian myeloblastosis viral oncogene homolog 381 Leucine-zipper.|Negative regulatory domain (By similarity). blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear matrix DNA binding|protein binding breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221) Lung NSC(302;3.08e-05)|Ovarian(999;0.208) OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117) CACCAGGGCACCATTCTGGAT 0.473000 T NFIB adenoid cystic carcinoma 11 14 0 0 1 0 0 IL37 27178 broad.mit.edu 37 2 113670619 113670619 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr2:113670619G>A ENST00000263326.3 + 1 72 c.30G>A c.(28-30)gtG>gtA p.V10V IL37_ENST00000353225.3_Silent_p.V10V|IL37_ENST00000352179.3_Silent_p.V10V|IL37_ENST00000349806.3_Silent_p.V10V NM_014439.3 NP_055254.2 Q9NZH6 IL37_HUMAN interleukin 37 10 immune response cytosol|extracellular space|nucleus cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3) 19 ACTCAGGAGTGAAAATGGGCT 0.438000 32 36 0 0 1 0 0 CPA4 51200 broad.mit.edu 37 7 129962490 129962490 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr7:129962490G>A ENST00000222482.4 + 11 1268 c.1240G>A c.(1240-1242)Gag>Aag p.E414K CPA4_ENST00000493259.1_Missense_Mutation_p.E310K|CPA4_ENST00000445470.2_Missense_Mutation_p.E381K NM_016352.3 NP_057436.2 Q9UI42 CBPA4_HUMAN carboxypeptidase A4 414 histone acetylation|proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Melanoma(18;0.0435) GACCATCATGGAGCATGTGCG 0.532000 51 71 0 0 1 0 0 ACP1 52 broad.mit.edu 37 2 277292 277292 + Silent SNP G G A rs150164591 TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr2:277292G>A ENST00000272067.6 + 6 561 c.465G>A c.(463-465)gaG>gaA p.E155E ACP1_ENST00000484464.1_3'UTR|ACP1_ENST00000272065.5_Silent_p.E155E NM_007099.3 NP_009030.1 P24666 PPAC_HUMAN acid phosphatase 1, soluble 155 cytoplasm|internal side of plasma membrane|nucleus|soluble fraction acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 12 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236) all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127) CGTTCTTGGAGAAGGCCCACT 0.542000 36 74 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195516895 195516895 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr3:195516895C>T ENST00000463781.3 - 2 2015 c.1556G>A c.(1555-1557)gGa>gAa p.G519E MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.G519E NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 524 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AGATGGATTTCCTGTGACAAG 0.532000 29 21 0 0 1 0 0 ZNF33A 7581 broad.mit.edu 37 10 38344720 38344720 + Silent SNP C C T rs138923692 by1000genomes TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr10:38344720C>T ENST00000374618.3 + 5 1846 c.1668C>T c.(1666-1668)ccC>ccT p.P556P ZNF33A_ENST00000432900.2_Silent_p.P562P|ZNF33A_ENST00000307441.9_Silent_p.P555P|ZNF33A_ENST00000458705.2_Silent_p.P555P|ZNF33A_ENST00000469037.2_Intron NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2 NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1 Q06730 ZN33A_HUMAN zinc finger protein 33A 555 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P555P(1) cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2) 46 TTGCATGTCCCGAATGTGGGA 0.423000 20 35 0 0 1 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140710638 140710638 + Missense_Mutation SNP C C G TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr5:140710638C>G ENST00000517417.1 + 1 387 c.387C>G c.(385-387)aaC>aaG p.N129K PCDHGA1_ENST00000378105.3_Missense_Mutation_p.N129K NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTAATGACAACACTCCCCAAT 0.403000 3 108 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57769394 57769394 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr20:57769394C>T ENST00000371030.2 + 1 3320 c.3320C>T c.(3319-3321)cCt>cTt p.P1107L NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1107 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GGGGAGCCTCCTGGGAATGCC 0.652000 22 27 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53092774 53092774 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr8:53092774C>T ENST00000276480.7 - 9 868 c.185G>A c.(184-186)cGa>cAa p.R62Q NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 62 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) GCTGTAGTGTCGGGGCTTCAT 0.517000 30 40 0 0 1 0 0 MTMR10 54893 broad.mit.edu 37 15 31234118 31234118 + Missense_Mutation SNP T T C TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr15:31234118T>C ENST00000435680.1 - 16 1986 c.1889A>G c.(1888-1890)tAt>tGt p.Y630C FAN1_ENST00000362065.4_3'UTR|MTMR10_ENST00000425768.1_3'UTR|MTMR10_ENST00000314404.8_Intron NM_017762.2 NP_060232.2 Q9NXD2 MTMRA_HUMAN myotubularin related protein 10 630 Myotubularin phosphatase. phosphatase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 9 all_lung(180;2.81e-11) all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174) TTCTCTAAAATACTGCTCCGT 0.448000 84 112 0 0 1 0 0 TREM2 54209 broad.mit.edu 37 6 41129174 41129174 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr6:41129174G>A ENST00000373113.3 - 2 311 c.218C>T c.(217-219)tCc>tTc p.S73F TREM2_ENST00000338469.3_Missense_Mutation_p.S73F|TREM2_ENST00000373122.4_Missense_Mutation_p.S73F NM_018965.2 NP_061838.1 Q9NZC2 TREM2_HUMAN triggering receptor expressed on myeloid cells 2 73 Ig-like V-type. axon guidance|humoral immune response extracellular region|integral to membrane|plasma membrane receptor activity breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1) 11 Ovarian(28;0.0418)|Colorectal(47;0.196) CCTCAGGAAGGACAGCAGCCA 0.612000 139 45 0 0 1 0 0 MYBPC2 4606 broad.mit.edu 37 19 50939085 50939085 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr19:50939085C>T ENST00000357701.5 + 3 213 c.162C>T c.(160-162)ttC>ttT p.F54F NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 54 Ig-like C2-type 1. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) CCGGCGTTTTCCTGAAGAAGC 0.662000 7 5 0 0 1 0 0 PDE4C 5143 broad.mit.edu 37 19 18322038 18322038 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr19:18322038C>T ENST00000355502.3 - 19 2711 c.1840G>A c.(1840-1842)Gac>Aac p.D614N PDE4C_ENST00000594617.2_Missense_Mutation_p.D614N|PDE4C_ENST00000262805.11_Missense_Mutation_p.D582N|PDE4C_ENST00000539010.1_Missense_Mutation_p.D383N|AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000594465.2_Missense_Mutation_p.D614N|PDE4C_ENST00000447275.2_Missense_Mutation_p.D508N Q08493 PDE4C_HUMAN phosphodiesterase 4C, cAMP-specific 614 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Dyphylline(DB00651) TGGACCAGGTCAGCCCAAGTC 0.577000 26 36 0 0 1 0 0 CORO2A 7464 broad.mit.edu 37 9 100897189 100897189 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr9:100897189C>T ENST00000343933.5 - 4 624 c.367G>A c.(367-369)Gcc>Acc p.A123T CORO2A_ENST00000375077.4_Missense_Mutation_p.A123T NM_003389.3 NP_003380.3 Q92828 COR2A_HUMAN coronin, actin binding protein, 2A 123 actin cytoskeleton organization|intracellular signal transduction actin cytoskeleton|transcriptional repressor complex actin filament binding endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) TTCCTGTAGGCCGTGAGGTTC 0.617000 25 35 0 0 1 0 0 UBQLNL 143630 broad.mit.edu 37 11 5537450 5537450 + Silent SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr11:5537450G>A ENST00000380184.1 - 1 485 c.222C>T c.(220-222)ttC>ttT p.F74F HBG2_ENST00000380259.2_Intron NM_145053.4 NP_659490.4 Q8IYU4 UBQLN_HUMAN ubiquilin-like 74 Ubiquitin-like. endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) GGCAACCCATGAAGACCAGCA 0.498000 12 15 0 0 1 0 0 GRIN2D 2906 broad.mit.edu 37 19 48945520 48945520 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr19:48945520C>T ENST00000263269.3 + 12 2642 c.2554C>T c.(2554-2556)Ctc>Ttc p.L852F NM_000836.2 NP_000827.2 O15399 NMDE4_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2D 852 cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1) 37 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) CTTCTACATGCTCCTGGTGGC 0.627000 72 82 0 0 1 0 0 KIAA0226 9711 broad.mit.edu 37 3 197444889 197444889 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr3:197444889C>T ENST00000389665.5 - 2 360 c.178G>A c.(178-180)Gac>Aac p.D60N KIAA0226_ENST00000449205.1_Missense_Mutation_p.D60N|KIAA0226_ENST00000296343.5_Missense_Mutation_p.D60N|KIAA0226_ENST00000467303.1_Intron|KIAA0226_ENST00000273582.5_5'UTR Q92622 RUBIC_HUMAN KIAA0226 60 RUN. autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) CTCTGCATGTCCCTGCAAAGC 0.507000 30 78 0 0 1 0 0 PRRC2A 7916 broad.mit.edu 37 6 31596971 31596971 + Missense_Mutation SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr6:31596971C>T ENST00000376033.2 + 13 2050 c.1816C>T c.(1816-1818)Cct>Tct p.P606S PRRC2A_ENST00000376007.4_Missense_Mutation_p.P606S NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 606 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 AGAAGAGGTTCCTCCTCCTAC 0.542000 380 72 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240371804 240371804 + Missense_Mutation SNP G G A TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr1:240371804G>A ENST00000319653.9 + 5 3922 c.3692G>A c.(3691-3693)gGa>gAa p.G1231E NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1231 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCTGGGACAGGAATCCCACCG 0.617000 8 71 0 0 1 0 0 AC016995.3 0 broad.mit.edu 37 2 38710017 38710019 + RNA DEL AAT AAT - rs2005502 by1000genomes TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr2:38710017_38710019delAAT ENST00000417039.1 - 0 696 TTCTTtaaaaaataaataaataa 0.246 2 4 --- --- --- --- LAMA2 3908 broad.mit.edu 37 6 129786364 129786365 + Frame_Shift_Ins INS - - T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr6:129786364_129786365insT ENST00000421865.2 + 51 7279_7280 c.7230_7231insT c.(7228-7233)tcttgtfs p.C2411fs NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 2411 Laminin G-like 2. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GAATGGCTTCCGTTGTCAGCAA 0.386 5 3 --- --- --- --- FIGNL1 63979 broad.mit.edu 37 7 50513275 50513275 + Frame_Shift_Del DEL A A - TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr7:50513275delA ENST00000419119.1 - 2 3264 c.1711delT c.(1711-1713)cafs p.S571fs FIGNL1_ENST00000356889.4_Frame_Shift_Del_p.S571fs|FIGNL1_ENST00000433017.1_Frame_Shift_Del_p.S571fs|FIGNL1_ENST00000395556.2_Frame_Shift_Del_p.S571fs Q6PIW4 FIGL1_HUMAN fidgetin-like 1 571 ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle cytoplasm|nucleus ATP binding|magnesium ion binding|nucleoside-triphosphatase activity endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 29 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06) TTCCTGGCTGAAGCTTCTGGG 0.443 41 31 --- --- --- --- BHLHE22 27319 broad.mit.edu 37 8 65494021 65494023 + In_Frame_Del DEL GCA GCA - rs62519837 TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr8:65494021_65494023delGCA ENST00000321870.1 + 1 1208_1210 c.674_676delGCA c.(673-678)ggc>g p.GS225del RP11-21C4.1_ENST00000517909.1_RNA NM_152414.4 NP_689627.1 Q8NFJ8 BHE22_HUMAN basic helix-loop-helix family, member e22 225 Gly-rich.|Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.S234delS(1)|p.S226G(1) NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 5 ggcagcggcggcagcagcagcag 0.709 2 4 --- --- --- --- RP11-531A24.5 0 broad.mit.edu 37 8 73965670 73965672 + RNA DEL CCT CCT - TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr8:73965670_73965672delCCT ENST00000517664.1 + 0 1258_1260 cctcacactccctcctcctcctc 0.429 2 4 --- --- --- --- IGHMBP2 3508 broad.mit.edu 37 11 68704380 68704380 + Frame_Shift_Del DEL C C - TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr11:68704380delC ENST00000255078.3 + 13 2543 c.2432delC c.(2431-2433)acfs p.T811fs NM_002180.2 NP_002171.2 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 811 Gln/Pro-rich. cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) GTGCCCCCTACCCCTGCGCAG 0.697 39 11 --- --- --- --- LOC100506125 100506125 broad.mit.edu 37 12 49183367 49183367 + RNA DEL G G - rs10711161 TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr12:49183367delG ENST00000549864.1 + 0 9 ccctgccccagccccagcccc 0.657 6 4 --- --- --- --- RP11-739G5.1 0 broad.mit.edu 37 15 94216840 94216841 + RNA DEL TC TC - TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr15:94216840_94216841delTC ENST00000554318.2 + 0 324 tccttctccatctctctctcTG 0.441 2 4 --- --- --- --- LOC101927009 101927009 broad.mit.edu 37 16 9488563 9488578 + RNA DEL TCCCTTCCTTTCTCCC TCCCTTCCTTTCTCCC - rs114802710 by1000genomes TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr16:9488563_9488578delTCCCTTCCTTTCTCCC ENST00000564305.1 + 0 193 cctgcctccttcccttcctttctccctcccttcctc 0.597 4 3 --- --- --- --- APOBR 55911 broad.mit.edu 37 16 28506895 28506897 + In_Frame_Del DEL AGG AGG - TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr16:28506895_28506897delAGG ENST00000564831.1 + 2 566_568 c.533_535delAGG c.(532-537)cag>c p.QE178del APOBR_ENST00000431282.1_In_Frame_Del_p.QE178del|APOBR_ENST00000328423.5_In_Frame_Del_p.QE178del NM_018690.3 NP_061160.3 Q0VD83 APOBR_HUMAN apolipoprotein B receptor 178 Glu-rich. cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1) 29 AGCTGGGAACAGGAGGAGGAGGA 0.635 2 4 --- --- --- --- ZNF646 9726 broad.mit.edu 37 16 31092264 31092264 + Frame_Shift_Del DEL A A - TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr16:31092264delA ENST00000394979.2 + 1 5042 c.4619delA c.(4618-4620)tcfs p.Y1540fs ZNF646_ENST00000300850.5_Frame_Shift_Del_p.Y1540fs O15015 ZN646_HUMAN zinc finger protein 646 1540 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 GGCAAGACTTACTGCCAGTCA 0.537 47 65 --- --- --- --- SCAF1 58506 broad.mit.edu 37 19 50155916 50155918 + In_Frame_Del DEL CCT CCT - TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 507620ef-f0fc-4ac3-a7c0-ea2e36c40f77 a2815430-61e0-48a8-8e07-ae14019aa8e3 g.chr19:50155916_50155918delCCT ENST00000360565.3 + 7 2394_2396 c.2270_2272delCCT c.(2269-2274)gcc>g p.AS757del NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 757 Ser-rich. mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) TCGGGGGCCGCCTCCTCCTCCTC 0.690 3 6 --- --- --- ---