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 PINK1 65018 broad.mit.edu 37 1 20964582 20964582 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr1:20964582C>A ENST00000321556.4 + 2 729 c.635C>A c.(634-636)cCt>cAt p.P212H NM_032409.2 NP_115785.1 Q9BXM7 PINK1_HUMAN PTEN induced putative kinase 1 212 Protein kinase. cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress cytosol|integral to membrane|mitochondrial outer membrane ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2) 14 all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CCGGGGGCCCCTGCCTTCCCC 0.577 4 52 --- --- --- --- SGIP1 84251 broad.mit.edu 37 1 67147695 67147695 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr1:67147695C>A ENST00000371037.4 + 15 1035 c.958C>A c.(958-960)Ccg>Acg p.P320T SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.P324T|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371035.3_Intron NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 320 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 TGATACATCCCCGGAACATGT 0.512 8 183 --- --- --- --- C1orf173 127254 broad.mit.edu 37 1 75038906 75038906 + Nonsense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr1:75038906C>A ENST00000326665.5 - 14 2706 c.2488G>T c.(2488-2490)Gag>Tag p.E830* C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 830 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 GGAGGGATCTCCCTTTTTTCT 0.572 13 130 --- --- --- --- MCOLN3 55283 broad.mit.edu 37 1 85498463 85498463 + Silent SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr1:85498463C>A ENST00000370587.1 - 7 1024 c.648G>T c.(646-648)gtG>gtT p.V216V MCOLN3_ENST00000370589.2_Silent_p.V216V|WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Silent_p.V160V Q8TDD5 MCLN3_HUMAN mucolipin 3 216 integral to membrane ion channel activity endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1) 34 all cancers(265;0.00957)|Epithelial(280;0.0254) ACTGAAGCTCCACTGTTAGGA 0.443 7 203 --- --- --- --- PALMD 54873 broad.mit.edu 37 1 100154852 100154852 + Missense_Mutation SNP A A T TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr1:100154852A>T ENST00000263174.4 + 7 1411 c.1036A>T c.(1036-1038)Agg>Tgg p.R346W PALMD_ENST00000605497.1_Missense_Mutation_p.R346W NM_017734.4 NP_060204.1 Q9NP74 PALMD_HUMAN palmdelphin 346 regulation of cell shape cytoplasm|membrane central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2) 31 all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216) Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201) CCCGCAAAAAAGGCTAATGAC 0.488 15 27 --- --- --- --- PLEKHO1 51177 broad.mit.edu 37 1 150131388 150131388 + Silent SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr1:150131388C>A ENST00000369124.4 + 6 1178 c.900C>A c.(898-900)ccC>ccA p.P300P PLEKHO1_ENST00000025469.6_Silent_p.P266P|PLEKHO1_ENST00000369126.1_Silent_p.P117P NM_016274.4 NP_057358.2 Q53GL0 PKHO1_HUMAN pleckstrin homology domain containing, family O member 1 300 Interaction with ATM, CKIP, IFP35 and NMI. cytoplasm|nucleus|plasma membrane breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2) 22 Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CTGCCCTCCCCAACCCGGGGC 0.662 5 69 --- --- --- --- PRPF3 9129 broad.mit.edu 37 1 150297416 150297416 + Missense_Mutation SNP A A G TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr1:150297416A>G ENST00000324862.6 + 2 181 c.16A>G c.(16-18)Agg>Ggg p.R6G PRPF3_ENST00000414970.2_Missense_Mutation_p.R6G|PRPF3_ENST00000543398.1_5'UTR NM_004698.2 NP_004689.1 O43395 PRPF3_HUMAN pre-mRNA processing factor 3 6 PWI. nuclear mRNA splicing, via spliceosome Cajal body|cytoplasm|nuclear speck|spliceosomal complex protein binding breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) Colorectal(1306;0.0149) ACTGTCAAAGAGGGAGCTGGA 0.423 7 128 --- --- --- --- RAB13 5872 broad.mit.edu 37 1 153954901 153954901 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr1:153954901C>A ENST00000368575.3 - 7 615 c.500G>T c.(499-501)cGg>cTg p.R167L RAB13_ENST00000462680.1_5'UTR NM_002870.2 NP_002861.1 P51153 RAB13_HUMAN RAB13, member RAS oncogene family 167 cell adhesion|protein transport|small GTPase mediated signal transduction|vesicle-mediated transport cytoplasmic vesicle membrane|tight junction GTP binding|GTPase activity p.R167L(2) breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1) 11 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CAAGATGTCCCGGGCCAGGGA 0.507 6 216 --- --- --- --- ANGPTL1 9068 broad.mit.edu 37 1 178834872 178834872 + Missense_Mutation SNP G G T TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr1:178834872G>T ENST00000234816.2 - 3 487 c.40C>A c.(40-42)Cta>Ata p.L14I RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000367635.3_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.L14I NM_004673.3 NP_004664.1 O95841 ANGL1_HUMAN angiopoietin-like 1 14 extracellular space receptor binding breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1) 14 TCCACTAGTAGGAAGAATAGC 0.378 5 64 --- --- --- --- TNNI1 7135 broad.mit.edu 37 1 201382239 201382239 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr1:201382239C>A ENST00000361379.4 - 6 292 c.200G>T c.(199-201)cGg>cTg p.R67L TNNI1_ENST00000336092.4_Missense_Mutation_p.R67L|TNNI1_ENST00000555948.1_Missense_Mutation_p.R67L|TNNI1_ENST00000367312.1_Missense_Mutation_p.R67L NM_003281.3 NP_003272.3 P19237 TNNI1_HUMAN troponin I type 1 (skeletal, slow) 67 R -> W (in dbSNP:rs2296695). muscle filament sliding|regulation of striated muscle contraction cytosol|troponin complex actin binding|tropomyosin binding p.R67L(2) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 8 GTGCAGCTCCCGGCACAGGTC 0.592 7 264 --- --- --- --- DPYSL5 56896 broad.mit.edu 37 2 27165567 27165567 + Silent SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr2:27165567C>A ENST00000288699.6 + 11 1547 c.1389C>A c.(1387-1389)ccC>ccA p.P463P DPYSL5_ENST00000401478.1_Silent_p.P463P NM_001253724.1|NM_020134.3 NP_001240653.1|NP_064519.2 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 463 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGTTCTGTCCCCTGAGGTCCT 0.647 OREG0014510 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 82 --- --- --- --- SLC4A5 57835 broad.mit.edu 37 2 74481805 74481805 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr2:74481805C>A ENST00000394019.2 - 14 1451 c.1054G>T c.(1054-1056)Ggg>Tgg p.G352W SLC4A5_ENST00000358683.4_Missense_Mutation_p.G288W|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.G352W|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.G352W|SLC4A5_ENST00000346834.4_Missense_Mutation_p.G352W|SLC4A5_ENST00000377634.4_Missense_Mutation_p.G352W|SLC4A5_ENST00000357822.5_Missense_Mutation_p.G352W|SLC4A5_ENST00000359484.4_Missense_Mutation_p.G288W NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 352 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity p.G352W(2) breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 TTTGCTCTCCCAGAAGGTCCC 0.428 7 248 --- --- --- --- ZNF514 84874 broad.mit.edu 37 2 95815602 95815602 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr2:95815602C>A ENST00000295208.2 - 5 1090 c.628G>T c.(628-630)Ggg>Tgg p.G210W ZNF514_ENST00000411425.1_Missense_Mutation_p.G210W NM_032788.1 NP_116177.1 Q96K75 ZN514_HUMAN zinc finger protein 514 210 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(4)|lung(6)|urinary_tract(1) 11 AAGGACTTCCCACACTCATTA 0.443 7 162 --- --- --- --- POTEE 445582 broad.mit.edu 37 2 131976433 131976433 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr2:131976433C>A ENST00000356920.5 + 1 552 c.458C>A c.(457-459)cCc>cAc p.P153H PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.P153H|PLEKHB2_ENST00000404460.1_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 153 ATP binding GGTAAAGTCCCCAGAAAGGAT 0.577 6 153 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179413531 179413531 + Missense_Mutation SNP G G T TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr2:179413531G>T ENST00000589042.1 - 339 93046 c.92822C>A c.(92821-92823)gCc>gAc p.A30941D TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A29300D|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A28373D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A22001D|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A22068D|TTN_ENST00000460472.2_Missense_Mutation_p.A21876D|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29300 Fibronectin type-III 125. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCGAATACTGGCCCCAGCTCT 0.468 4 69 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179647700 179647700 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr2:179647700C>A ENST00000589042.1 - 18 3157 c.2933G>T c.(2932-2934)aGg>aTg p.R978M TTN_ENST00000360870.5_Missense_Mutation_p.R978M|TTN_ENST00000591111.1_Missense_Mutation_p.R978M|TTN_ENST00000342992.6_Missense_Mutation_p.R978M|TTN_ENST00000359218.5_Missense_Mutation_p.R932M|TTN_ENST00000342175.6_Missense_Mutation_p.R932M|TTN_ENST00000460472.2_Missense_Mutation_p.R932M NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 978 Ig-like 3. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTAGTCTTCCCTGTACCATGT 0.473 5 82 --- --- --- --- NABP1 64859 broad.mit.edu 37 2 192549021 192549021 + Splice_Site SNP G G T TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr2:192549021G>T ENST00000410026.2 + 5 459 c.204G>T c.(202-204)gtG>gtT p.V68V NABP1_ENST00000409510.1_Splice_Site_p.V68V|NABP1_ENST00000425611.2_Splice_Site_p.V148V NM_001254736.1 NP_001241665.1 nucleic acid binding protein 1 TTGGACCAGTGGGTAAGATTT 0.333 6 100 --- --- --- --- FN1 2335 broad.mit.edu 37 2 216230308 216230308 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr2:216230308C>A ENST00000354785.4 - 43 7433 c.7064G>T c.(7063-7065)tGg>tTg p.W2355L FN1_ENST00000345488.5_Missense_Mutation_p.W2062L|FN1_ENST00000357867.4_Missense_Mutation_p.W2054L|FN1_ENST00000446046.1_Missense_Mutation_p.W2208L|FN1_ENST00000443816.1_Missense_Mutation_p.W2143L|FN1_ENST00000323926.6_Missense_Mutation_p.W2324L|FN1_ENST00000356005.4_Missense_Mutation_p.W2174L|FN1_ENST00000432072.2_Missense_Mutation_p.W2145L|FN1_ENST00000336916.4_Missense_Mutation_p.W2233L|FN1_ENST00000359671.1_Missense_Mutation_p.W2264L|FN1_ENST00000346544.3_Missense_Mutation_p.W2089L|FN1_ENST00000357009.2_3'UTR|FN1_ENST00000421182.1_Missense_Mutation_p.W2118L P02751 FINC_HUMAN fibronectin 1 2264 acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTGACGGTCCCACTTCTCTCC 0.458 6 112 --- --- --- --- CHL1 10752 broad.mit.edu 37 3 401998 401998 + Silent SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr3:401998C>A ENST00000256509.2 + 12 1839 c.1197C>A c.(1195-1197)ccC>ccA p.P399P CHL1_ENST00000397491.2_Silent_p.P383P 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 383 Ig-like C2-type 4. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix p.P399P(1) 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) TTGTCTTCCCCAGGGAAATCA 0.373 6 117 --- --- --- --- OXTR 5021 broad.mit.edu 37 3 8794680 8794680 + Missense_Mutation SNP G G T TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr3:8794680G>T ENST00000316793.3 - 4 1777 c.1153C>A c.(1153-1155)Cag>Aag p.Q385K CAV3_ENST00000472766.1_Intron NM_000916.3 NP_000907.2 P30559 OXYR_HUMAN oxytocin receptor 385 female pregnancy|lactation|muscle contraction integral to plasma membrane oxytocin receptor activity|vasopressin receptor activity NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(96;0.15) Carbetocin(DB01282) GTGGATGGCTGGGAGCAGCTC 0.622 4 42 --- --- --- --- OSBPL10 114884 broad.mit.edu 37 3 31703609 31703609 + Splice_Site SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr3:31703609C>A ENST00000396556.2 - 12 2373 c.e12-1 OSBPL10_ENST00000438237.2_Splice_Site NM_017784.4 NP_060254.2 Q9BXB5 OSB10_HUMAN oxysterol binding protein-like 10 lipid transport lipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 STAD - Stomach adenocarcinoma(1;0.00406) AGCCATCGCCCTGCAAGAGAA 0.488 7 89 --- --- --- --- DLEC1 9940 broad.mit.edu 37 3 38129853 38129853 + Missense_Mutation SNP G G A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr3:38129853G>A ENST00000308059.6 + 10 1660 c.1639G>A c.(1639-1641)Gcc>Acc p.A547T DLEC1_ENST00000346219.3_Missense_Mutation_p.A547T|DLEC1_ENST00000452631.2_Missense_Mutation_p.A547T Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 547 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) GTTTGAGCTGGCCCCGGGACA 0.458 5 138 --- --- --- --- RBM5 10181 broad.mit.edu 37 3 50150853 50150853 + Missense_Mutation SNP G G T TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr3:50150853G>T ENST00000347869.3 + 18 1668 c.1493G>T c.(1492-1494)tGg>tTg p.W498L RBM5_ENST00000441812.2_3'UTR NM_005778.3 NP_005769.1 P52756 RBM5_HUMAN RNA binding motif protein 5 498 Required for interaction with U2AF2.|Sufficient for interaction with ACIN1, PRPF8, SFRS3, SNRPB, SNRPN, SNRNP70 and SNRNP200. apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2) 19 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TACCTTTACTGGGATGGGGAA 0.448 5 74 --- --- --- --- ROBO1 6091 broad.mit.edu 37 3 78656036 78656036 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr3:78656036C>A ENST00000436010.2 - 27 5471 c.4474G>T c.(4474-4476)Ggg>Tgg p.G1492W ROBO1_ENST00000495273.1_Missense_Mutation_p.G1486W|ROBO1_ENST00000464233.1_Missense_Mutation_p.G1531W|ROBO1_ENST00000466906.1_5'UTR|ROBO1_ENST00000467549.1_Missense_Mutation_p.G1431W Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 1531 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) ACTTCTCTCCCCTTGTAACTG 0.483 12 522 --- --- --- --- DNAJC13 23317 broad.mit.edu 37 3 132165395 132165395 + Splice_Site SNP G G T TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr3:132165395G>T ENST00000260818.6 + 3 392 c.e3+1 DNAJC13_ENST00000486798.1_Splice_Site NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 AACAAATCAGGTAATCCTGTT 0.368 17 28 --- --- --- --- PLCH1 23007 broad.mit.edu 37 3 155241768 155241768 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr3:155241768C>A ENST00000460012.1 - 11 1655 c.1298G>T c.(1297-1299)gGg>gTg p.G433V PLCH1_ENST00000414191.1_Missense_Mutation_p.G433V|PLCH1_ENST00000447496.2_Missense_Mutation_p.G451V|PLCH1_ENST00000334686.6_Missense_Mutation_p.G433V|PLCH1_ENST00000340059.7_Missense_Mutation_p.G451V|PLCH1_ENST00000494598.1_Missense_Mutation_p.G451V Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 451 PI-PLC X-box. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TGCATCATCCCCAAGGTGATA 0.413 7 203 --- --- --- --- MUC4 4585 broad.mit.edu 37 3 195491914 195491914 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr3:195491914C>A ENST00000463781.3 - 10 14337 c.13878G>T c.(13876-13878)tgG>tgT p.W4626C MUC4_ENST00000349607.4_Missense_Mutation_p.W339C|MUC4_ENST00000346145.4_Missense_Mutation_p.W390C|MUC4_ENST00000475231.1_Missense_Mutation_p.W4574C NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1383 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) GAAACTCTCCCCAGGGCCCGT 0.637 5 55 --- --- --- --- EVC 2121 broad.mit.edu 37 4 5806552 5806552 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr4:5806552C>A ENST00000382674.2 + 17 2729 c.2545C>A c.(2545-2547)Cag>Aag p.Q849K EVC_ENST00000264956.6_Missense_Mutation_p.Q849K P57679 EVC_HUMAN Ellis van Creveld syndrome 849 muscle organ development integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1) 28 Myeloproliferative disorder(84;0.117) TGAGACCTCCCAGGCGGTCCA 0.567 5 86 --- --- --- --- FBXL5 26234 broad.mit.edu 37 4 15640193 15640193 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr4:15640193C>A ENST00000341285.3 - 4 645 c.521G>T c.(520-522)tGg>tTg p.W174L FBXL5_ENST00000382358.4_Missense_Mutation_p.W48L|FBXL5_ENST00000412094.2_Missense_Mutation_p.W157L NM_001193534.1|NM_001193535.1|NM_012161.3 NP_001180463.1|NP_001180464.1|NP_036293.1 Q9UKA1 FBXL5_HUMAN F-box and leucine-rich repeat protein 5 174 iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|SCF ubiquitin ligase complex iron ion binding|protein binding|ubiquitin-protein ligase activity endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 13 AGCATGATTCCATAGGCTAAG 0.338 4 49 --- --- --- --- SLIT2 9353 broad.mit.edu 37 4 20255579 20255579 + Silent SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr4:20255579C>A ENST00000504154.1 + 1 393 c.141C>A c.(139-141)cgC>cgA p.R47R SLIT2_ENST00000503823.1_Silent_p.R47R|SLIT2_ENST00000273739.5_Silent_p.R47R|SLIT2_ENST00000503837.1_Silent_p.R47R NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 47 LRRNT. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TGGCGCTGCGCAGCGTGCCCA 0.667 8 129 --- --- --- --- KDR 3791 broad.mit.edu 37 4 55979609 55979609 + Missense_Mutation SNP G G T TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr4:55979609G>T ENST00000263923.4 - 7 1133 c.838C>A c.(838-840)Cag>Aag p.Q280K NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 280 Ig-like C2-type 3. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) CTCCCAGACTGGGTTTTTAGG 0.418 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 5 78 --- --- --- --- SYNPO2 171024 broad.mit.edu 37 4 119978626 119978626 + Missense_Mutation SNP A A G TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr4:119978626A>G ENST00000307142.4 + 5 3519 c.3323A>G c.(3322-3324)tAc>tGc p.Y1108C SYNPO2_ENST00000448416.2_Missense_Mutation_p.T110A NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 765 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 CCTTGGGTATACCAGCCTACT 0.448 22 56 --- --- --- --- FAT4 79633 broad.mit.edu 37 4 126412062 126412062 + Silent SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr4:126412062C>A ENST00000394329.3 + 17 14098 c.14085C>A c.(14083-14085)ccC>ccA p.P4695P FAT4_ENST00000335110.5_Silent_p.P2936P NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4695 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GCCCAACTCCCAACCCTCTGT 0.498 7 127 --- --- --- --- DNAH5 1767 broad.mit.edu 37 5 13923454 13923454 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr5:13923454C>A ENST00000265104.4 - 4 477 c.373G>T c.(373-375)Ggg>Tgg p.G125W NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 125 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.G125W(1) 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) ACACATACCCCAGTAAGAGCC 0.468 Kartagener syndrome 8 220 --- --- --- --- ITGA2 3673 broad.mit.edu 37 5 52362978 52362978 + Missense_Mutation SNP A A C TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr5:52362978A>C ENST00000296585.5 + 16 2117 c.1974A>C c.(1972-1974)gaA>gaC p.E658D NM_002203.3 NP_002194.2 P17301 ITA2_HUMAN integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) 658 axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) TAGCTATAGAAGCTTCATTCA 0.353 3 38 --- --- --- --- PSD2 84249 broad.mit.edu 37 5 139215340 139215340 + Silent SNP G G T TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr5:139215340G>T ENST00000274710.3 + 9 1597 c.1392G>T c.(1390-1392)ctG>ctT p.L464L NM_032289.2 NP_115665.1 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 464 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2) 38 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGAAAAGCTGGAATGGGCCA 0.532 9 328 --- --- --- --- PCDHGC3 5098 broad.mit.edu 37 5 140857734 140857734 + Missense_Mutation SNP G G T TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr5:140857734G>T ENST00000308177.3 + 1 2155 c.2051G>T c.(2050-2052)cGg>cTg p.R684L PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron NM_002588.2|NM_032402.1 NP_002579.2|NP_115778.1 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTGCCCCCCGGGAGCAGAAA 0.507 OREG0016865 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 229 --- --- --- --- OR14J1 442191 broad.mit.edu 37 6 29275320 29275320 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr6:29275320C>A ENST00000377160.2 + 1 918 c.854C>A c.(853-855)cCa>cAa p.P285Q NM_030946.1 NP_112208.1 Q9UGF5 O14J1_HUMAN olfactory receptor, family 14, subfamily J, member 1 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P285Q(1) endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2) 17 ACACTCAATCCAGTCATTTAT 0.443 6 126 --- --- --- --- PRRC2A 7916 broad.mit.edu 37 6 31605230 31605230 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr6:31605230C>A ENST00000376033.2 + 31 6575 c.6341C>A c.(6340-6342)cCa>cAa p.P2114Q PRRC2A_ENST00000376007.4_Missense_Mutation_p.P2114Q NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 2114 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 TAGGCCTCCCCACCAGATGCC 0.612 8 246 --- --- --- --- XPO5 57510 broad.mit.edu 37 6 43538333 43538333 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr6:43538333C>A ENST00000265351.7 - 5 737 c.527G>T c.(526-528)aGg>aTg p.R176M NM_020750.2 NP_065801.1 Q9HAV4 XPO5_HUMAN exportin 5 176 gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 34 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) CTGGATGTCCCTTCTTCTTTG 0.413 7 201 --- --- --- --- MEP1A 4224 broad.mit.edu 37 6 46793078 46793078 + Missense_Mutation SNP A A C TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr6:46793078A>C ENST00000230588.4 + 8 635 c.626A>C c.(625-627)gAg>gCg p.E209A NM_005588.2 NP_005579.2 Q16819 MEP1A_HUMAN meprin A, alpha (PABA peptide hydrolase) 209 Metalloprotease. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) TATGATTATGAGTCTTTGATG 0.443 5 85 --- --- --- --- DST 667 broad.mit.edu 37 6 56468037 56468037 + Missense_Mutation SNP G G A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr6:56468037G>A ENST00000370754.5 - 41 11023 c.11024C>T c.(11023-11025)aCg>aTg p.T3675M DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.T3497M|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Missense_Mutation_p.T3497M|DST_ENST00000446842.2_Missense_Mutation_p.T3171M|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.T3497M Q03001 DYST_HUMAN dystonin 3497 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GATCTGTTTCGTTCTTTCTGA 0.388 14 13 --- --- --- --- UTRN 7402 broad.mit.edu 37 6 144747493 144747493 + Missense_Mutation SNP G G T TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr6:144747493G>T ENST00000367545.3 + 6 476 c.476G>T c.(475-477)tGg>tTg p.W159L NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 159 Actin-binding.|CH 2. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) CTGCTCAGCTGGGTGCGTCAG 0.527 6 94 --- --- --- --- PHF10 55274 broad.mit.edu 37 6 170114863 170114863 + Missense_Mutation SNP G G C TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr6:170114863G>C ENST00000339209.4 - 7 892 c.769C>G c.(769-771)Ctc>Gtc p.L257V PHF10_ENST00000366780.4_Missense_Mutation_p.L255V NM_018288.3|NM_133325.2 NP_060758.2|NP_579866.2 Q8WUB8 PHF10_HUMAN PHD finger protein 10 257 SAY. nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent npBAF complex zinc ion binding endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1) 14 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176) CCGGGGATGAGAGCCACTGGG 0.418 14 169 --- --- --- --- SPDYE1 285955 broad.mit.edu 37 7 44040843 44040843 + Silent SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr7:44040843C>A ENST00000258704.3 + 1 356 c.219C>A c.(217-219)ccC>ccA p.P73P RP5-1165K10.2_ENST00000454572.1_RNA|POLR2J4_ENST00000427076.1_RNA NM_001099435.2|NM_175064.2 NP_001092905.2|NP_778234.2 Q8NFV5 SPDE1_HUMAN speedy/RINGO cell cycle regulator family member E1 73 endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 11 GAGTGTCACCCATCCTCCTTG 0.552 4 35 --- --- --- --- SGCE 8910 broad.mit.edu 37 7 94214814 94214814 + Missense_Mutation SNP G G T TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr7:94214814G>T ENST00000428696.2 - 11 1318 c.1319C>A c.(1318-1320)cCt>cAt p.P440H SGCE_ENST00000437425.2_Silent_p.P396P|SGCE_ENST00000445866.2_Silent_p.P462P|SGCE_ENST00000447873.1_Silent_p.P428P|SGCE_ENST00000265735.7_Silent_p.P437P NM_001099400.1 NP_001092870.1 O43556 SGCE_HUMAN sarcoglycan, epsilon 0 cell-matrix adhesion|muscle organ development cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma calcium ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1) 14 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) TCTTTCTTCAGGGATACCATT 0.363 11 341 --- --- --- --- ZKSCAN5 23660 broad.mit.edu 37 7 99123537 99123537 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr7:99123537C>A ENST00000394170.2 + 6 1125 c.874C>A c.(874-876)Cag>Aag p.Q292K ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.Q292K|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.Q292K NM_014569.3 NP_055384.1 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 292 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) GAGCGTTCCTCAGGATCCAGA 0.498 6 126 --- --- --- --- SLC12A9 56996 broad.mit.edu 37 7 100463781 100463781 + Silent SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr7:100463781C>A ENST00000354161.3 + 14 2424 c.2299C>A c.(2299-2301)Cgg>Agg p.R767R NM_020246.3 NP_064631.2 Q9BXP2 S12A9_HUMAN solute carrier family 12, member 9 767 integral to membrane|plasma membrane cation:chloride symporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 41 Lung NSC(181;0.041)|all_lung(186;0.0581) CGCCCGGCTCCGGATCTTCCT 0.706 5 89 --- --- --- --- LAMB1 3912 broad.mit.edu 37 7 107580685 107580685 + Silent SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr7:107580685C>A ENST00000393561.1 - 23 3766 c.3582G>T c.(3580-3582)tcG>tcT p.S1194S LAMB1_ENST00000222399.6_Silent_p.S1170S P07942 LAMB1_HUMAN laminin, beta 1 1170 Domain II. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent p.S1170S(1) NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGAAGACCCCCGAGTACCCTC 0.592 7 111 --- --- --- --- TTC26 79989 broad.mit.edu 37 7 138824682 138824682 + Missense_Mutation SNP G G T TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr7:138824682G>T ENST00000464848.1 + 4 361 c.281G>T c.(280-282)tGg>tTg p.W94L TTC26_ENST00000430935.1_Missense_Mutation_p.W94L|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000474035.2_Missense_Mutation_p.W94L|TTC26_ENST00000343187.4_Missense_Mutation_p.W63L|TTC26_ENST00000478836.2_Missense_Mutation_p.W94L|TTC26_ENST00000495038.1_Missense_Mutation_p.W94L A0AVF1 TTC26_HUMAN tetratricopeptide repeat domain 26 94 binding breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 24 TCTGAAGTCTGGGTGAACCTA 0.378 5 91 --- --- --- --- DENND2A 27147 broad.mit.edu 37 7 140223198 140223198 + Silent SNP G G T TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr7:140223198G>T ENST00000275884.6 - 16 2991 c.2574C>A c.(2572-2574)ccC>ccA p.P858P DENND2A_ENST00000537639.1_Silent_p.P858P|DENND2A_ENST00000496613.1_Silent_p.P858P Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 858 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) GAAGCTTCCGGGGCAGGATGG 0.597 5 67 --- --- --- --- ZNF862 643641 broad.mit.edu 37 7 149547345 149547345 + Missense_Mutation SNP G G T TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr7:149547345G>T ENST00000223210.4 + 5 1280 c.1035G>T c.(1033-1035)gaG>gaT p.E345D NM_001099220.1 NP_001092690.1 O60290 ZN862_HUMAN zinc finger protein 862 345 KRAB 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1) 34 TCACCCGGGAGGAGTGGGGCA 0.587 4 27 --- --- --- --- KCNU1 157855 broad.mit.edu 37 8 36767015 36767015 + Silent SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr8:36767015C>A ENST00000399881.3 + 21 2330 c.2293C>A c.(2293-2295)Cga>Aga p.R765R NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 765 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity p.R765G(2) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) GAGAGAATGGCGATTTCTCTG 0.378 5 159 --- --- --- --- VCPIP1 80124 broad.mit.edu 37 8 67578551 67578551 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr8:67578551C>A ENST00000310421.4 - 1 901 c.643G>T c.(643-645)Ggg>Tgg p.G215W NM_025054.4 NP_079330.2 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex interacting protein 1 215 OTU. protein ubiquitination endoplasmic reticulum|Golgi stack ubiquitin-specific protease activity breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) TGTCCATCCCCGTCCACATGC 0.522 5 115 --- --- --- --- LRP12 29967 broad.mit.edu 37 8 105503275 105503275 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr8:105503275C>A ENST00000276654.5 - 7 2314 c.2206G>T c.(2206-2208)Ggg>Tgg p.G736W LRP12_ENST00000424843.2_Missense_Mutation_p.G717W|LRP12_ENST00000518375.1_5'UTR NM_013437.4 NP_038465.1 Q9Y561 LRP12_HUMAN low density lipoprotein receptor-related protein 12 736 endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) CAGCGTAGCCCCTGAGTCATA 0.483 6 88 --- --- --- --- TG 7038 broad.mit.edu 37 8 133935616 133935616 + Missense_Mutation SNP T T A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr8:133935616T>A ENST00000220616.4 + 22 4602 c.4562T>A c.(4561-4563)cTg>cAg p.L1521Q TG_ENST00000542445.1_5'UTR|TG_ENST00000377869.1_Intron NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1521 Thyroglobulin type-1 11. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GAAGCAGGCCTGCAATGTGAC 0.577 7 94 --- --- --- --- FAM135B 51059 broad.mit.edu 37 8 139164039 139164039 + Silent SNP G G T TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr8:139164039G>T ENST00000395297.1 - 13 2849 c.2679C>A c.(2677-2679)acC>acA p.T893T NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 893 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GAAGAGATCTGGTCCTGGGGT 0.468 HNSCC(54;0.14) 6 164 --- --- --- --- TRPM6 140803 broad.mit.edu 37 9 77377204 77377204 + Missense_Mutation SNP A A C TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr9:77377204A>C ENST00000451710.3 - 26 4620 c.4383T>G c.(4381-4383)gaT>gaG p.D1461E TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.D1461E|TRPM6_ENST00000360774.1_Missense_Mutation_p.D1461E|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.D1456E|TRPM6_ENST00000449912.2_Missense_Mutation_p.D1456E Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1461 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 CACCAGTTTCATCACCTTCTG 0.493 44 98 --- --- --- --- SPTLC1 10558 broad.mit.edu 37 9 94877638 94877638 + Silent SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr9:94877638C>A ENST00000262554.2 - 1 20 c.15G>T c.(13-15)acG>acT p.T5T SPTLC1_ENST00000482632.1_5'UTR|SPTLC1_ENST00000337841.4_Silent_p.T5T NM_006415.2 NP_006406.1 O15269 SPTC1_HUMAN serine palmitoyltransferase, long chain base subunit 1 5 integral to membrane|SPOTS complex protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 14 L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) CCCACTGCTCCGTGGCGGTCG 0.657 4 60 --- --- --- --- ARHGAP21 57584 broad.mit.edu 37 10 24909324 24909324 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr10:24909324C>A ENST00000396432.2 - 9 1986 c.1500G>T c.(1498-1500)gaG>gaT p.E500D ARHGAP21_ENST00000320481.6_Missense_Mutation_p.E287D NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 499 signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 CATCCTGTCCCTCAATATAAT 0.393 5 84 --- --- --- --- GDF10 2662 broad.mit.edu 37 10 48426603 48426603 + Silent SNP G G T TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr10:48426603G>T ENST00000224605.2 - 3 1669 c.1404C>A c.(1402-1404)ccC>ccA p.P468P NM_004962.3 NP_004953.1 P55107 BMP3B_HUMAN growth differentiation factor 10 468 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31 CGGACATGTTGGGGTACACCT 0.587 OREG0020165 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 146 --- --- --- --- DDX50 79009 broad.mit.edu 37 10 70666556 70666556 + Silent SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr10:70666556C>A ENST00000373585.3 + 2 284 c.177C>A c.(175-177)ccC>ccA p.P59P NM_024045.1 NP_076950.1 Q9BQ39 DDX50_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 59 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 29 TGGATGCTCCCAAGGCCAAAA 0.378 6 97 --- --- --- --- IFIT5 24138 broad.mit.edu 37 10 91177698 91177698 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr10:91177698C>A ENST00000371795.4 + 2 955 c.742C>A c.(742-744)Cag>Aag p.Q248K IFIT5_ENST00000416601.1_Missense_Mutation_p.Q200K NM_012420.2 NP_036552.1 Q13325 IFIT5_HUMAN interferon-induced protein with tetratricopeptide repeats 5 248 binding endometrium(1)|large_intestine(4)|lung(4) 9 AATATCATCCCAGCCTTACGT 0.413 5 73 --- --- --- --- TCF7L2 6934 broad.mit.edu 37 10 114711014 114711014 + Silent SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr10:114711014C>A ENST00000355995.4 + 2 745 c.238C>A c.(238-240)Cgg>Agg p.R80R TCF7L2_ENST00000538897.1_Silent_p.R80R|TCF7L2_ENST00000534894.1_Silent_p.R80R|TCF7L2_ENST00000352065.5_Silent_p.R80R|TCF7L2_ENST00000349937.2_Silent_p.R80R|TCF7L2_ENST00000543371.1_Silent_p.R80R|TCF7L2_ENST00000369395.1_Silent_p.R80R|TCF7L2_ENST00000536810.1_Silent_p.R80R|TCF7L2_ENST00000369397.4_Silent_p.R80R|TCF7L2_ENST00000355717.4_Silent_p.R80R|RP11-57H14.2_ENST00000369391.3_RNA|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000545257.1_Silent_p.R80R Q9NQB0 TF7L2_HUMAN transcription factor 7-like 2 (T-cell specific, HMG-box) 80 anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus beta-catenin-TCF7L2 complex|PML body|protein-DNA complex armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding VTI1A/TCF7L2(8) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1) 41 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) AGACAAATCCCGGGAAAGTTT 0.746 T VTI1A colorectal 3 14 --- --- --- --- TCERG1L 256536 broad.mit.edu 37 10 132915191 132915191 + Missense_Mutation SNP T T A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr10:132915191T>A ENST00000368642.4 - 9 1351 c.1266A>T c.(1264-1266)gaA>gaT p.E422D NM_174937.3 NP_777597.2 Q5VWI1 TCRGL_HUMAN transcription elongation regulator 1-like 422 cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09) all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276) TCCCGCAGCCTTCGGTCCTTC 0.567 6 18 --- --- --- --- TRIM68 55128 broad.mit.edu 37 11 4623608 4623608 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr11:4623608C>A ENST00000300747.5 - 4 846 c.557G>T c.(556-558)tGg>tTg p.W186L NM_018073.6 NP_060543.5 Q6AZZ1 TRI68_HUMAN tripartite motif containing 68 186 protein autoubiquitination|regulation of androgen receptor signaling pathway Golgi apparatus|nucleolus|perinuclear region of cytoplasm androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 15 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) TTCAAACTCCCATACAATACT 0.498 4 41 --- --- --- --- AMBRA1 55626 broad.mit.edu 37 11 46569829 46569829 + Missense_Mutation SNP T T A rs17854361 TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr11:46569829T>A ENST00000458649.2 - 2 520 c.102A>T c.(100-102)gaA>gaT p.E34D AMBRA1_ENST00000534300.1_Missense_Mutation_p.E34D|AMBRA1_ENST00000426438.1_Missense_Mutation_p.E34D|AMBRA1_ENST00000528950.1_Missense_Mutation_p.E34D|AMBRA1_ENST00000298834.3_Missense_Mutation_p.E34D|AMBRA1_ENST00000314845.3_Missense_Mutation_p.E34D|AMBRA1_ENST00000533727.1_Missense_Mutation_p.E34D Q9C0C7 AMRA1_HUMAN autophagy/beclin-1 regulator 1 34 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) GGGTTTTATCTTCTACCAGCT 0.512 15 427 --- --- --- --- OR5R1 219479 broad.mit.edu 37 11 56185184 56185184 + Missense_Mutation SNP G G C TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr11:56185184G>C ENST00000312253.1 - 1 524 c.525C>G c.(523-525)aaC>aaG p.N175K NM_001004744.1 NP_001004744.1 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, member 1 175 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) AATAGAAATGGTTAATTAAGT 0.433 20 98 --- --- --- --- PRG2 5553 broad.mit.edu 37 11 57156158 57156158 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr11:57156158C>A ENST00000311862.5 - 4 463 c.390G>T c.(388-390)agG>agT p.R130S PRG2_ENST00000533605.1_Missense_Mutation_p.R119S|PRG2_ENST00000525955.1_Missense_Mutation_p.R130S NM_001243245.1|NM_002728.4 NP_001230174.1|NP_002719.3 proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4) 10 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) CCAGGTTGCCCCTGTAGCACC 0.473 6 91 --- --- --- --- KRTAP5-10 387273 broad.mit.edu 37 11 71277128 71277128 + Silent SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr11:71277128C>A ENST00000398531.1 + 1 520 c.495C>A c.(493-495)ccC>ccA p.P165P KRTAP5-10_ENST00000376536.4_Silent_p.P117P NM_001012710.1 NP_001012728.1 Q6L8G5 KR510_HUMAN keratin associated protein 5-10 165 7 X 4 AA repeats of C-C-X-P. keratin filament endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 12 gctgcaatccctgctgctgcc 0.632 8 188 --- --- --- --- FAT3 120114 broad.mit.edu 37 11 92087998 92087998 + Missense_Mutation SNP G G T TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr11:92087998G>T ENST00000298047.6 + 1 2737 c.2720G>T c.(2719-2721)aGg>aTg p.R907M FAT3_ENST00000409404.2_Missense_Mutation_p.R907M|FAT3_ENST00000525166.1_Missense_Mutation_p.R757M|FAT3_ENST00000541502.1_Missense_Mutation_p.R907M Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 907 Cadherin 8. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ATAGAAGCCAGGGACAAGGCA 0.443 TCGA Ovarian(4;0.039) 7 177 --- --- --- --- PRDM10 56980 broad.mit.edu 37 11 129772217 129772217 + Silent SNP G G T TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr11:129772217G>T ENST00000358825.5 - 22 3705 c.3474C>A c.(3472-3474)acC>acA p.T1158T PRDM10_ENST00000528746.1_Silent_p.T1115T|PRDM10_ENST00000526082.1_Silent_p.T1072T|PRDM10_ENST00000423662.2_Silent_p.T1059T|PRDM10_ENST00000360871.3_Silent_p.T1154T|PRDM10_ENST00000304538.6_Silent_p.T1021T NM_020228.2 NP_064613.2 Q9NQV6 PRD10_HUMAN PR domain containing 10 1145 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) GTCATGGTTTGGTGATATGCA 0.512 6 152 --- --- --- --- PRDM10 56980 broad.mit.edu 37 11 129785692 129785692 + Missense_Mutation SNP G G T TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr11:129785692G>T ENST00000358825.5 - 17 2632 c.2401C>A c.(2401-2403)Cca>Aca p.P801T PRDM10_ENST00000528746.1_Missense_Mutation_p.P771T|PRDM10_ENST00000526082.1_Missense_Mutation_p.P715T|PRDM10_ENST00000423662.2_Missense_Mutation_p.P715T|PRDM10_ENST00000360871.3_Missense_Mutation_p.P797T|PRDM10_ENST00000304538.6_Missense_Mutation_p.P711T NM_020228.2 NP_064613.2 Q9NQV6 PRD10_HUMAN PR domain containing 10 801 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) ATGCTCGGTGGGAGCTCTGCT 0.582 7 169 --- --- --- --- GRIN2B 2904 broad.mit.edu 37 12 13717392 13717392 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr12:13717392C>A ENST00000609686.1 - 13 2989 c.2780G>T c.(2779-2781)cGg>cTg p.R927L NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.R927Q(1) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GGATGACTCCCGTCGGATGAA 0.572 7 241 --- --- --- --- KRT73 319101 broad.mit.edu 37 12 53002038 53002038 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr12:53002038C>A ENST00000305748.3 - 9 1599 c.1565G>T c.(1564-1566)aGg>aTg p.R522M RP11-641A6.2_ENST00000551089.1_RNA NM_175068.2 NP_778238.1 Q86Y46 K2C73_HUMAN keratin 73 522 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) CTGGGAGTCCCTGAATTCACT 0.572 6 145 --- --- --- --- ESPL1 9700 broad.mit.edu 37 12 53666575 53666575 + Silent SNP T T G TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr12:53666575T>G ENST00000257934.4 + 6 1531 c.1440T>G c.(1438-1440)tcT>tcG p.S480S ESPL1_ENST00000552462.1_Silent_p.S480S NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 480 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 GTGCCATCTCTGAGCCGCTCT 0.522 22 223 --- --- --- --- MAP3K12 7786 broad.mit.edu 37 12 53876702 53876702 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr12:53876702C>A ENST00000267079.2 - 12 2011 c.1786G>T c.(1786-1788)Ggg>Tgg p.G596W MAP3K12_ENST00000547488.1_Missense_Mutation_p.G629W|MAP3K12_ENST00000547035.1_Missense_Mutation_p.G629W NM_001193511.1|NM_006301.3 NP_001180440.1|NP_006292.3 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 12 596 histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 37 TGATGAAGCCCACGGAGGGCG 0.677 5 72 --- --- --- --- GPR84 53831 broad.mit.edu 37 12 54756634 54756634 + Silent SNP G G T TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr12:54756634G>T ENST00000551809.1 - 1 1637 c.1002C>A c.(1000-1002)ccC>ccA p.P334P GPR84_ENST00000267015.3_Silent_p.P334P|RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA Q9NQS5 GPR84_HUMAN G protein-coupled receptor 84 334 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1) 18 GCAGCAAGAAGGGGATGTAGC 0.532 7 154 --- --- --- --- LRP1 4035 broad.mit.edu 37 12 57574174 57574174 + Silent SNP C C T TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr12:57574174C>T ENST00000243077.3 + 32 5764 c.5298C>T c.(5296-5298)atC>atT p.I1766I NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1766 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) ACCATACCATCAACCGCTGCA 0.617 25 224 --- --- --- --- TMTC2 160335 broad.mit.edu 37 12 83359553 83359553 + Silent SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr12:83359553C>A ENST00000548305.1 + 6 2485 c.1899C>A c.(1897-1899)ccC>ccA p.P633P TMTC2_ENST00000321196.3_Intron|TMTC2_ENST00000549919.1_Intron Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat containing 2 0 endoplasmic reticulum|integral to membrane binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1) 39 GTCCTTTTCCCTCCCCCTTGT 0.448 5 71 --- --- --- --- RFX4 5992 broad.mit.edu 37 12 107144510 107144510 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr12:107144510C>A ENST00000392842.1 + 17 2288 c.1874C>A c.(1873-1875)cCt>cAt p.P625H RFX4_ENST00000357881.4_Missense_Mutation_p.P634H|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Missense_Mutation_p.P531H NM_213594.2 NP_998759.1 Q33E94 RFX4_HUMAN regulatory factor X, 4 (influences HLA class II expression) 625 transcription, DNA-dependent nucleus DNA binding NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1) 35 CCGGCCCTCCCTCATGACACA 0.537 7 190 --- --- --- --- OR4K5 79317 broad.mit.edu 37 14 20389492 20389492 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr14:20389492C>A ENST00000315915.4 + 1 752 c.727C>A c.(727-729)Cat>Aat p.H243N NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 243 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) GCTGGCTTCCCATATTGCAGT 0.403 8 300 --- --- --- --- TOX4 9878 broad.mit.edu 37 14 21960728 21960728 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr14:21960728C>A ENST00000405508.1 + 8 1229 c.953C>A c.(952-954)cCt>cAt p.P318H TOX4_ENST00000262709.3_Missense_Mutation_p.P318H|TOX4_ENST00000448790.2_Missense_Mutation_p.P295H O94842 TOX4_HUMAN TOX high mobility group box family member 4 318 chromatin|nucleus|PTW/PP1 phosphatase complex DNA binding|protein binding large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) TCTCCACCTCCTATGGCTACT 0.468 7 153 --- --- --- --- MOAP1 64112 broad.mit.edu 37 14 93650448 93650448 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr14:93650448C>A ENST00000556883.1 - 2 624 c.140G>T c.(139-141)gGg>gTg p.G47V MOAP1_ENST00000298894.4_Missense_Mutation_p.G47V Q96BY2 MOAP1_HUMAN modulator of apoptosis 1 47 activation of caspase activity|apoptotic nuclear change cytoplasm protein homodimerization activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2) 13 all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13) Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204) tctgtactcccccaagggagc 0.552 7 141 --- --- --- --- HERC2 8924 broad.mit.edu 37 15 28375390 28375390 + Silent SNP G G T TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr15:28375390G>T ENST00000261609.7 - 83 12829 c.12721C>A c.(12721-12723)Cgg>Agg p.R4241R NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 4241 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TGGACCTGCCGAGGCCTTCGA 0.562 6 223 --- --- --- --- TP53BP1 7158 broad.mit.edu 37 15 43713293 43713293 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr15:43713293C>A ENST00000263801.3 - 20 4417 c.4165G>T c.(4165-4167)Ggg>Tgg p.G1389W TP53BP1_ENST00000382044.4_Missense_Mutation_p.G1394W|TP53BP1_ENST00000450115.2_Missense_Mutation_p.G1394W|TP53BP1_ENST00000382039.3_Intron NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 1389 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) GGAGCCTTCCCTCCCTGTCTG 0.567 Other conserved DNA damage response genes 6 120 --- --- --- --- TP53BP1 7158 broad.mit.edu 37 15 43739618 43739618 + Missense_Mutation SNP G G T TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr15:43739618G>T ENST00000263801.3 - 13 3019 c.2767C>A c.(2767-2769)Cca>Aca p.P923T TP53BP1_ENST00000605155.1_5'UTR|TP53BP1_ENST00000382044.4_Missense_Mutation_p.P928T|TP53BP1_ENST00000450115.2_Missense_Mutation_p.P928T|TP53BP1_ENST00000382039.3_Missense_Mutation_p.P928T NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 923 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) ATAAGAGGTGGGGTTGCACCA 0.363 Other conserved DNA damage response genes 6 110 --- --- --- --- MAP1A 4130 broad.mit.edu 37 15 43814445 43814445 + Silent SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr15:43814445C>A ENST00000382031.1 + 5 1519 c.1488C>A c.(1486-1488)ccC>ccA p.P496P MAP1A_ENST00000300231.5_Silent_p.P258P|MAP1A_ENST00000399453.1_Silent_p.P258P P78559 MAP1A_HUMAN microtubule-associated protein 1A 258 9 X 3 AA repeats of K-K-[DE].|Lys-rich (basic). cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) CAGCCAATCCCACTGAGAAGA 0.537 6 107 --- --- --- --- SEMA6D 80031 broad.mit.edu 37 15 48054506 48054506 + Silent SNP A A G TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr15:48054506A>G ENST00000316364.5 + 8 1087 c.648A>G c.(646-648)aaA>aaG p.K216K SEMA6D_ENST00000389428.3_Silent_p.K216K|SEMA6D_ENST00000354744.4_Silent_p.K216K|SEMA6D_ENST00000537942.1_Silent_p.K216K|SEMA6D_ENST00000358066.4_Silent_p.K216K|SEMA6D_ENST00000389425.3_Silent_p.K216K|SEMA6D_ENST00000558816.1_Silent_p.K216K|SEMA6D_ENST00000536845.2_Silent_p.K216K|SEMA6D_ENST00000389432.2_Silent_p.K216K|SEMA6D_ENST00000558014.1_Silent_p.K216K|SEMA6D_ENST00000355997.3_Silent_p.K216K|SEMA6D_ENST00000389433.2_Silent_p.K216K NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 216 Sema. axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) ATGATTCCAAATGGATAAAAG 0.507 3 79 --- --- --- --- NR2F2 7026 broad.mit.edu 37 15 96880728 96880728 + Silent SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr15:96880728C>A ENST00000394166.3 + 3 2511 c.1122C>A c.(1120-1122)tcC>tcA p.S374S NR2F2_ENST00000421109.2_Silent_p.S241S|NR2F2_ENST00000394171.2_Silent_p.S221S|NR2F2_ENST00000453270.2_Silent_p.S221S NM_021005.3 NP_066285.1 P24468 COT2_HUMAN nuclear receptor subfamily 2, group F, member 2 374 Important for dimerization.|Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity). lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment nucleus ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1) 17 Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297) OV - Ovarian serous cystadenocarcinoma(32;0.0856) GCACCGTCTCCTCCTCAGTCA 0.512 8 203 --- --- --- --- VIMP 55829 broad.mit.edu 37 15 101816764 101816764 + Silent SNP G G T TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr15:101816764G>T ENST00000398226.3 - 2 225 c.193C>A c.(193-195)Cga>Aga p.R65R VIMP_ENST00000531964.1_Silent_p.R42R|VIMP_ENST00000526049.1_Silent_p.R65R|VIMP_ENST00000537379.1_Silent_p.R65R VCP-interacting membrane protein GCCGCAGCTCGGTCCAGCTGC 0.502 4 50 --- --- --- --- CLEC16A 23274 broad.mit.edu 37 16 11217672 11217672 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr16:11217672C>A ENST00000409790.1 + 21 2572 c.2342C>A c.(2341-2343)cCc>cAc p.P781H CLEC16A_ENST00000409552.3_Missense_Mutation_p.P763H|CLEC16A_ENST00000465491.1_3'UTR NM_015226.2 NP_056041.1 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 781 p.0?(1) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 GCGTCCAGCCCCCATTCCAAG 0.602 6 89 --- --- --- --- ABCC11 85320 broad.mit.edu 37 16 48232099 48232099 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr16:48232099C>A ENST00000394747.1 - 15 2519 c.2170G>T c.(2170-2172)Ggg>Tgg p.G724W ABCC11_ENST00000394748.1_Missense_Mutation_p.G724W|ABCC11_ENST00000353782.5_Missense_Mutation_p.G724W|ABCC11_ENST00000537808.1_Missense_Mutation_p.G724W|ABCC11_ENST00000356608.2_Missense_Mutation_p.G724W NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 724 ABC transporter 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) GCATATTTCCCCTTTTTCTGC 0.463 7 98 --- --- --- --- NOD2 64127 broad.mit.edu 37 16 50745558 50745558 + Missense_Mutation SNP A A G TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr16:50745558A>G ENST00000300589.2 + 4 1841 c.1736A>G c.(1735-1737)gAc>gGc p.D579G NM_022162.1 NP_071445.1 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain containing 2 579 NACHT. activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) AGCCCTGATGACATTTCTCTT 0.607 6 35 --- --- --- --- CDH5 1003 broad.mit.edu 37 16 66426125 66426125 + Silent SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr16:66426125C>A ENST00000341529.3 + 7 1204 c.1056C>A c.(1054-1056)ccC>ccA p.P352P CDH5_ENST00000563425.2_Silent_p.P352P NM_001795.3 NP_001786.2 P33151 CADH5_HUMAN cadherin 5, type 2 (vascular endothelium) 352 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) TGAGCCCTCCCGCGGGAAACA 0.522 6 222 --- --- --- --- FAM65A 79567 broad.mit.edu 37 16 67576897 67576897 + Silent SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr16:67576897C>A ENST00000540839.3 + 14 2488 c.2268C>A c.(2266-2268)ccC>ccA p.P756P FAM65A_ENST00000379312.3_Silent_p.P740P|FAM65A_ENST00000428437.2_Silent_p.P750P|FAM65A_ENST00000422602.2_Silent_p.P756P|FAM65A_ENST00000042381.4_Silent_p.P736P Q6ZS17 FA65A_HUMAN family with sequence similarity 65, member A 740 Pro-rich. cytoplasm binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) GTAGGAAACCCCTCACAAGCC 0.602 8 231 --- --- --- --- TIMM22 29928 broad.mit.edu 37 17 904323 904323 + Silent SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr17:904323C>A ENST00000327158.4 + 4 606 c.580C>A c.(580-582)Cgg>Agg p.R194R NM_013337.2 NP_037469.2 Q9Y584 TIM22_HUMAN translocase of inner mitochondrial membrane 22 homolog (yeast) transmembrane transport integral to membrane|mitochondrial inner membrane protein transporter activity breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1) 7 UCEC - Uterine corpus endometrioid carcinoma (25;0.022) TTATTACCTCCGGTGAGAGTA 0.532 5 163 --- --- --- --- PEX12 5193 broad.mit.edu 37 17 33904411 33904411 + Missense_Mutation SNP G G T TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr17:33904411G>T ENST00000225873.4 - 2 933 c.326C>A c.(325-327)cCa>cAa p.P109Q NM_000286.2 NP_000277.1 O00623 PEX12_HUMAN peroxisomal biogenesis factor 12 109 protein import into peroxisome matrix integral to peroxisomal membrane protein C-terminus binding|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8) 18 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CTGCTGCTTTGGGAGACCAGC 0.438 8 257 --- --- --- --- GJC1 10052 broad.mit.edu 37 17 42882007 42882007 + Silent SNP G G T TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr17:42882007G>T ENST00000426548.1 - 3 1448 c.1179C>A c.(1177-1179)tcC>tcA p.S393S GJC1_ENST00000590758.1_Silent_p.S393S|GJC1_ENST00000592524.1_Silent_p.S393S|GJC1_ENST00000330514.4_Silent_p.S393S NM_001080383.1|NM_005497.3 NP_001073852.1|NP_005488.2 P36383 CXG1_HUMAN gap junction protein, gamma 1, 45kDa 393 cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport connexon complex|integral to membrane NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1) 19 Prostate(33;0.0959) AAATCCAGACGGAGGTCTTCC 0.488 6 110 --- --- --- --- TMEM92 162461 broad.mit.edu 37 17 48356659 48356659 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr17:48356659C>A ENST00000300433.3 + 6 580 c.470C>A c.(469-471)cCg>cAg p.P157Q TMEM92_ENST00000507382.1_Missense_Mutation_p.P157Q NM_001168215.1 NP_001161687.1 Q6UXU6 TMM92_HUMAN transmembrane protein 92 157 integral to membrane NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1) 7 ATTGACAACCCGGCCTTCTGA 0.592 5 128 --- --- --- --- MYOM1 8736 broad.mit.edu 37 18 3135567 3135567 + Silent SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr18:3135567C>A ENST00000356443.4 - 15 2520 c.2187G>T c.(2185-2187)gtG>gtT p.V729V MYOM1_ENST00000400569.3_Silent_p.V729V|MYOM1_ENST00000261606.7_Silent_p.V729V NM_003803.3|NM_019856.1 NP_003794.3|NP_062830.1 P52179 MYOM1_HUMAN myomesin 1 729 Fibronectin type-III 2. striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CTACCACAGTCACCTCCGTTG 0.458 14 15 --- --- --- --- TPGS2 25941 broad.mit.edu 37 18 34385449 34385449 + Silent SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr18:34385449C>A ENST00000334295.4 - 4 697 c.270G>T c.(268-270)ctG>ctT p.L90L TPGS2_ENST00000589049.1_Silent_p.L90L|TPGS2_ENST00000587129.1_Silent_p.L90L|TPGS2_ENST00000383056.3_Intron|TPGS2_ENST00000593035.1_Intron|TPGS2_ENST00000590842.1_Silent_p.L90L NM_015476.2 NP_056291.2 Q68CL5 TPGS2_HUMAN tubulin polyglutamylase complex subunit 2 90 cytoplasm|microtubule CCATGCTTCCCAGTGGAATGA 0.453 6 113 --- --- --- --- ABCA7 10347 broad.mit.edu 37 19 1046282 1046282 + Missense_Mutation SNP G G T TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr19:1046282G>T ENST00000263094.6 + 13 1730 c.1499G>T c.(1498-1500)tGg>tTg p.W500L ABCA7_ENST00000533574.1_3'UTR|ABCA7_ENST00000435683.2_Missense_Mutation_p.W362L|ABCA7_ENST00000433129.1_Missense_Mutation_p.W500L NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 500 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGCTACGTGTGGGGCGGCTTC 0.692 8 275 --- --- --- --- STX10 8677 broad.mit.edu 37 19 13260570 13260570 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr19:13260570C>A ENST00000589083.1 - 2 229 c.177G>T c.(175-177)tgG>tgT p.W59C STX10_ENST00000587230.1_Missense_Mutation_p.W59C|STX10_ENST00000343587.5_Missense_Mutation_p.W59C|STX10_ENST00000242770.5_Missense_Mutation_p.W59C NM_001271610.1 NP_001258539.1 O60499 STX10_HUMAN syntaxin 10 59 Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi Golgi membrane|integral to membrane SNAP receptor activity breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1) 6 OV - Ovarian serous cystadenocarcinoma(19;3.41e-21) CCTCGAGGTCCCACTCGATGC 0.652 OREG0025290 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 58 --- --- --- --- CHERP 10523 broad.mit.edu 37 19 16631188 16631188 + Missense_Mutation SNP G G T TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr19:16631188G>T ENST00000546361.2 - 14 2483 c.2332C>A c.(2332-2334)Cgc>Agc p.R778S C19orf44_ENST00000221671.3_3'UTR|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.R789S|CHERP_ENST00000544299.1_5'UTR NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 778 Arg-rich. R -> C (in Ref. 1; AAN77183). cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 GATCTGGAGCGGGAGTAGGAA 0.632 5 151 --- --- --- --- FKBP8 23770 broad.mit.edu 37 19 18644141 18644141 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr19:18644141C>A ENST00000608443.1 - 7 1161 c.962G>T c.(961-963)gGg>gTg p.G321V FKBP8_ENST00000597960.3_Missense_Mutation_p.G321V|AC005387.2_ENST00000596596.1_RNA|FKBP8_ENST00000222308.4_Missense_Mutation_p.G320V|FKBP8_ENST00000596558.2_Missense_Mutation_p.G320V|FKBP8_ENST00000610101.1_Missense_Mutation_p.G161V|FKBP8_ENST00000453489.2_Missense_Mutation_p.G349V Q14318 FKBP8_HUMAN FK506 binding protein 8, 38kDa apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding integral to endoplasmic reticulum membrane|mitochondrial membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1) 15 ACTGTACTCCCCCTGCTGGGC 0.622 4 23 --- --- --- --- ZFP36 7538 broad.mit.edu 37 19 39899014 39899014 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr19:39899014C>A ENST00000597629.1 + 2 748 c.674C>A c.(673-675)cCa>cAa p.P225Q ZFP36_ENST00000248673.3_Missense_Mutation_p.P219Q P26651 TTP_HUMAN ZFP36 ring finger protein 219 positive regulation of nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleus AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding large_intestine(1)|lung(5)|pancreas(1) 7 all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) TCCAGCTCCCCACCACCACCT 0.697 6 150 --- --- --- --- ARHGEF1 9138 broad.mit.edu 37 19 42410938 42410938 + Nonstop_Mutation SNP A A T TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr19:42410938A>T ENST00000599846.1 + 29 3032 c.2907A>T c.(2905-2907)tgA>tgT p.*969C ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R841W|ARHGEF1_ENST00000337665.4_Nonstop_Mutation_p.*928C|ARHGEF1_ENST00000347545.4_Nonstop_Mutation_p.*880C|ARHGEF1_ENST00000354532.3_Nonstop_Mutation_p.*913C Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor (GEF) 1 0 cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) GCTGCACTTGAGGTTCCCGCC 0.657 9 21 --- --- --- --- LIG1 3978 broad.mit.edu 37 19 48646816 48646816 + Nonsense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr19:48646816C>A ENST00000263274.7 - 11 1317 c.898G>T c.(898-900)Gag>Tag p.E300* LIG1_ENST00000536218.1_Nonsense_Mutation_p.E232*|LIG1_ENST00000427526.2_Nonsense_Mutation_p.E269* NM_000234.1 NP_000225.1 P18858 DNLI1_HUMAN ligase I, DNA, ATP-dependent 300 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) GACACCTCCTCGATCTTCTCA 0.597 Nucleotide excision repair (NER) 5 130 --- --- --- --- ZNF160 90338 broad.mit.edu 37 19 53573193 53573193 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr19:53573193C>A ENST00000601421.1 - 3 1362 c.486G>T c.(484-486)gaG>gaT p.E162D ZNF160_ENST00000418871.1_Missense_Mutation_p.E198D|ZNF160_ENST00000599056.1_Missense_Mutation_p.E198D|ZNF160_ENST00000429604.1_Missense_Mutation_p.E198D Q9HCG1 ZN160_HUMAN zinc finger protein 160 198 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) ACATTTTCCCCTCACCTTGAA 0.413 6 144 --- --- --- --- PRPF31 26121 broad.mit.edu 37 19 54625942 54625942 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr19:54625942C>A ENST00000321030.4 + 5 738 c.389C>A c.(388-390)cCc>cAc p.P130H PRPF31_ENST00000391755.1_Missense_Mutation_p.P130H|PRPF31_ENST00000498612.1_3'UTR|AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000419967.1_Missense_Mutation_p.P130H NM_015629.3 NP_056444.3 Q8WWY3 PRP31_HUMAN pre-mRNA processing factor 31 130 assembly of spliceosomal tri-snRNP Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP RNA binding|snRNP binding breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3) 12 all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) TCCTTGGTCCCCAATGCACTG 0.572 7 199 --- --- --- --- SIRPA 140885 broad.mit.edu 37 20 1902248 1902248 + Missense_Mutation SNP T T G TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr20:1902248T>G ENST00000358771.4 + 3 796 c.644T>G c.(643-645)gTg>gGg p.V215G SIRPA_ENST00000356025.3_Missense_Mutation_p.V215G|SIRPA_ENST00000400068.3_Missense_Mutation_p.V215G NM_001040023.1 NP_001035112.1 P78324 SHPS1_HUMAN signal-regulatory protein alpha 215 Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) ACAGCCAAGGTGGTGCTGACC 0.572 7 103 --- --- --- --- GMEB2 26205 broad.mit.edu 37 20 62229167 62229167 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr20:62229167C>A ENST00000266068.1 - 4 882 c.404G>T c.(403-405)gGg>gTg p.G135V GMEB2_ENST00000370069.1_Missense_Mutation_p.G84V|GMEB2_ENST00000370077.1_Missense_Mutation_p.G135V Q9UKD1 GMEB2_HUMAN glucocorticoid modulatory element binding protein 2 135 SAND. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1) 18 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114) GGTGGACTTCCCGGCCAGGTG 0.612 5 76 --- --- --- --- SMARCB1 6598 broad.mit.edu 37 22 24129387 24129387 + Missense_Mutation SNP G G T TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr22:24129387G>T ENST00000344921.6 + 1 238 c.31G>T c.(31-33)Ggg>Tgg p.G11W SMARCB1_ENST00000407422.3_Missense_Mutation_p.G11W|SMARCB1_ENST00000263121.7_Missense_Mutation_p.G11W|SMARCB1_ENST00000407082.3_Missense_Mutation_p.G11W Q12824 SNF5_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 11 cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex p53 binding p.?(2) bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194) 458 Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05) CAAGACCTTCGGGCAGAAGCC 0.716 """D, N, F, S""" malignant rhabdoid malignant rhabdoid 5 85 --- --- --- --- DEPDC5 9681 broad.mit.edu 37 22 32275670 32275670 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr22:32275670C>A ENST00000400246.1 + 38 4107 c.3965C>A c.(3964-3966)tCc>tAc p.S1322Y DEPDC5_ENST00000400249.2_Missense_Mutation_p.S1291Y|DEPDC5_ENST00000266091.3_Missense_Mutation_p.S1300Y|DEPDC5_ENST00000382112.3_Missense_Mutation_p.S1313Y|DEPDC5_ENST00000382105.2_Missense_Mutation_p.P1208T|DEPDC5_ENST00000382111.2_Missense_Mutation_p.S1322Y|DEPDC5_ENST00000539165.1_Missense_Mutation_p.S139Y|DEPDC5_ENST00000400248.2_Missense_Mutation_p.S1291Y|DEPDC5_ENST00000535622.1_Missense_Mutation_p.S1222Y O75140 DEPD5_HUMAN DEP domain containing 5 1291 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 CGGCCAGCCTCCTATGCAAGT 0.572 5 57 --- --- --- --- XIST 7503 broad.mit.edu 37 X 73071294 73071294 + RNA SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chrX:73071294C>A ENST00000429829.1 - 0 1294 NR_001564.2 GTGGCCTTCCCGCCACTTGAA 0.537 6 145 --- --- --- --- PGK1 5230 broad.mit.edu 37 X 77369512 77369512 + Splice_Site SNP G G T TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chrX:77369512G>T ENST00000373316.4 + 4 439 c.e4-1 PGK1_ENST00000442431.1_Intron|PGK1_ENST00000537456.1_Splice_Site NM_000291.3 NP_000282.1 P00558 PGK1_HUMAN phosphoglycerate kinase 1 gluconeogenesis|glycolysis cytosol ATP binding|phosphoglycerate kinase activity p.?(1) breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 24 CCTCTTCTCAGGGATGTTCTG 0.502 6 130 --- --- --- --- ZNF449 203523 broad.mit.edu 37 X 134494804 134494804 + Missense_Mutation SNP C C A TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chrX:134494804C>A ENST00000339249.4 + 5 1500 c.1360C>A c.(1360-1362)Cag>Aag p.Q454K NM_152695.5 NP_689908.3 Q6P9G9 ZN449_HUMAN zinc finger protein 449 454 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) TACTTTGCACCAGAGAACGCA 0.368 5 80 --- --- --- --- POM121C 100101267 broad.mit.edu 37 7 75053866 75053867 + Frame_Shift_Ins INS - - T TCGA-G9-6377-01A-11D-1961-08 TCGA-G9-6377-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6bd9212-3027-4fd0-a68c-8eba98159fa7 7a8a6772-4da4-4461-adcf-094b84fed702 g.chr7:75053866_75053867insT ENST00000453279.2 - 11 1677_1678 c.813_814insA c.(811-816)ctagacfs p.D272fs POM121C_ENST00000473168.1_5'UTR|POM121C_ENST00000257665.5_Frame_Shift_Ins_p.D514fs NM_001099415.1 NP_001092885 A8CG34 P121C_HUMAN POM121 transmembrane nucleoporin C 514 Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex. mRNA transport|protein transport|transmembrane transport endoplasmic reticulum membrane|nuclear membrane|nuclear pore protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 TTCTCTAAGTCTAGGTCCTCGG 0.510 102 194 --- --- --- ---