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 SLC45A1 50651 broad.mit.edu 37 1 8390537 8390537 + Silent SNP G A A TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr1:8390537G>A uc001apb.2 + 4 984 c.984G>A c.(982-984)TCG>TCA p.S328S SLC45A1_uc001apc.2_Silent_p.S26S NM_001080397 NP_001073866 Q9Y2W3 S45A1_HUMAN DNB5 328 carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|pancreas(1)|skin(1) 4 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) GCCTCCCGTCGCACACGGCCA 0.697 KLHDC7A 127707 broad.mit.edu 37 1 18809465 18809465 + Missense_Mutation SNP G A A TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr1:18809465G>A uc001bax.2 + 1 2042 c.1990G>A c.(1990-1992)GGC>AGC p.G664S KLHDC7A_uc009vpg.2_Missense_Mutation_p.G446S NM_152375 NP_689588 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 664 Kelch 5. integral to membrane ovary(2)|upper_aerodigestive_tract(1) 3 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CCCCACCGGGGGCAGCAAGGA 0.682 FAM54B 56181 broad.mit.edu 37 1 26156090 26156090 + Missense_Mutation SNP C T T TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr1:26156090C>T uc001bkq.3 + 6 752 c.542C>T c.(541-543)ACA>ATA p.T181I FAM54B_uc001bkr.3_Intron|FAM54B_uc010oet.1_Missense_Mutation_p.T214I|FAM54B_uc009vrz.2_Missense_Mutation_p.T166I|FAM54B_uc001bks.3_Missense_Mutation_p.T181I|FAM54B_uc001bkt.3_Missense_Mutation_p.T181I|FAM54B_uc001bku.3_Intron|FAM54B_uc001bkv.3_Missense_Mutation_p.T84I NM_001099625 NP_001093095 Q9H019 FA54B_HUMAN hypothetical protein LOC56181 isoform a 181 pancreas(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.96e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.00095)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0649) TTCCACTCTACAACTTCCTTT 0.478 CYB5RL 606495 broad.mit.edu 37 1 54653374 54653374 + Missense_Mutation SNP G A A TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr1:54653374G>A uc009vzo.2 - 5 706 c.386C>T c.(385-387)ACG>ATG p.T129M CYB5RL_uc001cww.2_Translation_Start_Site|CYB5RL_uc001cwx.3_RNA|CYB5RL_uc001cwy.3_Translation_Start_Site NM_001031672 NP_001026842 Q6IPT4 NB5R5_HUMAN cytochrome b5 reductase-like 129 FAD-binding FR-type. cytochrome-b5 reductase activity 0 GCTGATGGGCGTATAGGCTCT 0.448 TCHH 7062 broad.mit.edu 37 1 152081632 152081632 + Missense_Mutation SNP C T T rs2496251 TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr1:152081632C>T uc001ezp.2 - 2 4061 c.4061G>A c.(4060-4062)CGC>CAC p.R1354H TCHH_uc009wne.1_Missense_Mutation_p.R1354H NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 1354 23 X 26 AA approximate tandem repeats. R -> L (in Ref. 1; AAA65582). keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCTTGGCGGCGCAGCGGCTG 0.567 RYR2 6262 broad.mit.edu 37 1 237608770 237608770 + Missense_Mutation SNP C T T TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr1:237608770C>T uc001hyl.1 + 14 1360 c.1240C>T c.(1240-1242)CGC>TGC p.R414C NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 414 Cytoplasmic (By similarity). R -> L (in CPVT1). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGAAGAATCACGCACAGCCCG 0.393 PTEN 5728 broad.mit.edu 37 10 89720812 89720812 + Frame_Shift_Del DEL A - - TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr10:89720812delA uc001kfb.2 + 9 1994 c.963delA c.(961-963)ACAfs p.T321fs NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 321 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.T321fs*23(9)|p.T321fs*3(7)|p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.N323fs*2(2)|p.T319_K332del(1)|p.T321fs*22(1)|p.G165_*404del(1)|p.G165_K342del(1)|p.L316fs*1(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.T321fs*4(1)|p.T321fs*6(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TTACTTTAACAAAAAATGATC 0.323 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) MMP26 56547 broad.mit.edu 37 11 5013297 5013297 + Silent SNP C T T TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr11:5013297C>T uc001lzv.2 + 5 717 c.699C>T c.(697-699)CAC>CAT p.H233H NM_021801 NP_068573 Q9NRE1 MMP26_HUMAN matrix metalloproteinase 26 preproprotein 233 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227) Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191) ACTGGTATCACGACCCTAGAA 0.488 OR52L1 338751 broad.mit.edu 37 11 6007615 6007615 + Silent SNP T C C TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr11:6007615T>C uc001mcd.2 - 1 601 c.546A>G c.(544-546)GGA>GGG p.G182G NM_001005173 NP_001005173 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, 182 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|pancreas(1) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGATAAGTTTTCCCAACAAAA 0.488 MAP4K2 5871 broad.mit.edu 37 11 64568434 64568434 + Silent SNP C G G TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr11:64568434C>G uc001obh.2 - 9 692 c.600G>C c.(598-600)CTG>CTC p.L200L MAP4K2_uc001obi.2_Silent_p.L200L NM_004579 NP_004570 Q12851 M4K2_HUMAN mitogen-activated protein kinase kinase kinase 200 Protein kinase. activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting basolateral plasma membrane|Golgi membrane|soluble fraction ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(1)|pancreas(1) 2 CAGTGATGCCCAGGGCCCAGA 0.622 RPL13AP20 387841 broad.mit.edu 37 12 13028632 13028632 + Missense_Mutation SNP C A A TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr12:13028632C>A uc010sho.1 + 1 222 c.200C>A c.(199-201)TCC>TAC p.S67Y NR_003932 SubName: Full=Ribosomal protein L13a variant; Flags: Fragment; 0 AGCAACCCTTCCCGAGGCCCC 0.582 PTPRB 5787 broad.mit.edu 37 12 70986066 70986066 + Missense_Mutation SNP T G G TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr12:70986066T>G uc001swb.3 - 5 1152 c.1122A>C c.(1120-1122)AGA>AGC p.R374S PTPRB_uc010sto.1_Missense_Mutation_p.R374S|PTPRB_uc010stp.1_Missense_Mutation_p.R374S|PTPRB_uc001swc.3_Missense_Mutation_p.R592S|PTPRB_uc001swa.3_Missense_Mutation_p.R592S|PTPRB_uc001swd.3_Missense_Mutation_p.R591S|PTPRB_uc009zrr.1_Missense_Mutation_p.R471S|PTPRB_uc001swe.2_Missense_Mutation_p.R592S NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 374 Fibronectin type-III 4.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) ACTCACATGTTCTGCCCACTG 0.448 ACADS 35 broad.mit.edu 37 12 121176678 121176678 + Missense_Mutation SNP G A A TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr12:121176678G>A uc001tza.3 + 8 1107 c.989G>A c.(988-990)CGC>CAC p.R330H ACADS_uc010szl.1_Missense_Mutation_p.R326H|ACADS_uc001tzb.3_Missense_Mutation_p.R211H NM_000017 NP_000008 P16219 ACADS_HUMAN short-chain acyl-CoA dehydrogenase precursor 330 mitochondrial matrix butyryl-CoA dehydrogenase activity central_nervous_system(2) 2 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) Lung NSC(355;0.163) NADH(DB00157) CTGACCTGGCGCGCTGCCATG 0.642 RB1 5925 broad.mit.edu 37 13 48953730 48953730 + Nonsense_Mutation SNP C T T rs3092891 TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr13:48953730C>T uc001vcb.2 + 14 1499 c.1333C>T c.(1333-1335)CGA>TGA p.R445* NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 445 Domain A.|Pocket; binds T and E1A. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(7)|p.R445*(2) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TTGTTTGTAGCGATACAAACT 0.204 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) OR4K5 79317 broad.mit.edu 37 14 20389501 20389501 + Frame_Shift_Del DEL G - - TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr14:20389501delG uc010tkw.1 + 1 736 c.736delG c.(736-738)GTAfs p.V246fs NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, 246 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CCATATTGCAGTAGTAATATT 0.398 Unknown 0 broad.mit.edu 37 15 20649664 20649664 + Silent SNP A G G TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr15:20649664A>G uc001ytg.2 - 18 2554 c.1845T>C c.(1843-1845)CCT>CCC p.P615P uc010tyx.1_RNA|uc001yth.3_Silent_p.P615P|uc010tyy.1_Silent_p.P615P RecName: Full=Putative HERC2-like protein 3; GGCCTGGAGGAGGCCTATCCT 0.577 GOLGA6D 653643 broad.mit.edu 37 15 75580661 75580661 + Missense_Mutation SNP C T T TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr15:75580661C>T uc010uma.1 + 7 555 c.520C>T c.(520-522)CGG>TGG p.R174W uc010umb.1_5'Flank NM_001145224 NP_001138696 P0CG33 GOG6D_HUMAN golgi autoantigen, golgin subfamily a, 6D 174 Potential. 0 AGAATTGGAGCGGGCTCTCTG 0.552 DECR2 26063 broad.mit.edu 37 16 455001 455001 + Missense_Mutation SNP C G G TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr16:455001C>G uc002chb.2 + 2 232 c.126C>G c.(124-126)TTC>TTG p.F42L DECR2_uc002chc.2_5'UTR|DECR2_uc010bqv.2_5'UTR|DECR2_uc002chd.2_5'UTR|DECR2_uc002che.1_5'Flank NM_020664 NP_065715 Q9NUI1 DECR2_HUMAN 2,4-dienoyl CoA reductase 2 42 NADP (By similarity). peroxisome 2,4-dienoyl-CoA reductase (NADPH) activity|binding 0 Hepatocellular(16;0.00015) GGATTGGGTTCCGGATTGCTG 0.517 ITGAM 3684 broad.mit.edu 37 16 31284722 31284722 + Silent SNP G A A TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr16:31284722G>A uc002ebq.2 + 8 839 c.741G>A c.(739-741)AAG>AAA p.K247K ITGAM_uc002ebr.2_Silent_p.K247K|ITGAM_uc010cam.1_5'Flank NM_000632 NP_000623 P11215 ITAM_HUMAN integrin alpha M isoform 2 precursor 247 VWFA.|Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity kidney(1) 1 GAGCCCGAAAGAATGCCTTTA 0.453 ITGAM 3684 broad.mit.edu 37 16 31286937 31286937 + Missense_Mutation SNP G A A TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr16:31286937G>A uc002ebq.2 + 9 1024 c.926G>A c.(925-927)CGT>CAT p.R309H ITGAM_uc002ebr.2_Missense_Mutation_p.R309H|ITGAM_uc010cam.1_Translation_Start_Site NM_000632 NP_000623 P11215 ITAM_HUMAN integrin alpha M isoform 2 precursor 309 VWFA.|Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity kidney(1) 1 AAGCCGCCTCGTGATCACGTG 0.512 ATP2A3 489 broad.mit.edu 37 17 3850757 3850757 + Silent SNP G T T TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr17:3850757G>T uc002fxb.1 - 8 1174 c.1023C>A c.(1021-1023)ACC>ACA p.T341T ATP2A3_uc002fwx.1_Silent_p.T341T|ATP2A3_uc002fwy.1_Silent_p.T341T|ATP2A3_uc002fwz.1_Silent_p.T341T|ATP2A3_uc002fxa.1_Silent_p.T341T|ATP2A3_uc002fxc.1_Silent_p.T341T|ATP2A3_uc002fxd.1_Silent_p.T341T NM_174955 NP_777615 Q93084 AT2A3_HUMAN ATPase, Ca++ transporting, ubiquitous isoform b 341 Cytoplasmic (By similarity). ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding ovary(3)|breast(1)|central_nervous_system(1) 5 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) TGCAGCCCAGGGTCTCCACGG 0.647 TP53 7157 broad.mit.edu 37 17 7576926 7576927 + Splice_Site DNP GC AT AT TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr17:7576926_7576927GC>AT uc002gim.2 - 9 1114 c.920_splice c.e9-1 p.A307_splice TP53_uc002gig.1_Intron|TP53_uc002gih.2_Splice_Site_p.A307_splice|TP53_uc010cne.1_5'UTR|TP53_uc010cnf.1_Splice_Site_p.A175_splice|TP53_uc010cng.1_Splice_Site_p.A175_splice|TP53_uc002gii.1_Splice_Site_p.A175_splice|TP53_uc010cnh.1_Splice_Site_p.A307_splice|TP53_uc010cni.1_Splice_Site_p.A307_splice|TP53_uc002gij.2_Splice_Site_p.A307_splice NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.?(16)|p.0?(7)|p.A307fs*34(1)|p.L308fs*31(1)|p.A307V(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTTGGGCAGTGCTAGGAAAGAG 0.490 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) MYH8 4626 broad.mit.edu 37 17 10315706 10315706 + Missense_Mutation SNP G A A TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr17:10315706G>A uc002gmm.2 - 14 1492 c.1397C>T c.(1396-1398)GCT>GTT p.A466V uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 466 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 TTCAAAGCCAGCAATGTCCAA 0.438 Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling ACSF2 80221 broad.mit.edu 37 17 48540562 48540562 + Missense_Mutation SNP A G G TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr17:48540562A>G uc002iqu.2 + 7 942 c.838A>G c.(838-840)ATT>GTT p.I280V ACSF2_uc010wml.1_Missense_Mutation_p.I237V|ACSF2_uc010wmm.1_Missense_Mutation_p.I305V|ACSF2_uc010wmn.1_Missense_Mutation_p.I267V|ACSF2_uc010wmo.1_Missense_Mutation_p.I120V NM_025149 NP_079425 Q96CM8 ACSF2_HUMAN acyl-CoA synthetase family member 2 precursor 280 fatty acid metabolic process mitochondrion ATP binding|ligase activity 0 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) CCACTACAACATTGTCAACAA 0.597 RAVER1 125950 broad.mit.edu 37 19 10434237 10434237 + Silent SNP C T T TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr19:10434237C>T uc002moa.2 - 4 893 c.813G>A c.(811-813)GCG>GCA p.A271A NM_133452 NP_597709 Q8IY67 RAVR1_HUMAN RAVER1 254 RRM 3. cytoplasm|nucleus nucleotide binding|protein binding|RNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) CCTGGCCGCACGCCAGCTGCC 0.652 RPL23AP32 56969 broad.mit.edu 37 2 54756736 54756736 + Missense_Mutation SNP T C C TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr2:54756736T>C uc010yot.1 + 1 378 c.254T>C c.(253-255)TTT>TCT p.F85S SPTBN1_uc002rxu.2_Intron|SPTBN1_uc002rxv.1_Intron NR_002229 SubName: Full=Putative uncharacterized protein DKFZp547I014; 0 ACCACTGAGTTTGCCATGAAG 0.483 SLC5A7 60482 broad.mit.edu 37 2 108626770 108626770 + Missense_Mutation SNP C T T TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr2:108626770C>T uc002tdv.2 + 9 1472 c.1196C>T c.(1195-1197)ACG>ATG p.T399M SLC5A7_uc010ywm.1_Missense_Mutation_p.T152M|SLC5A7_uc010fjj.2_Missense_Mutation_p.T399M|SLC5A7_uc010ywn.1_Missense_Mutation_p.T286M NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (choline transporter), 399 Cytoplasmic (Potential). acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity ovary(2)|central_nervous_system(1)|skin(1) 4 Choline(DB00122) GCCTTGCTGACGAAAACTGTG 0.463 LRP2 4036 broad.mit.edu 37 2 170007505 170007505 + Missense_Mutation SNP G A A TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr2:170007505G>A uc002ues.2 - 68 12706 c.12493C>T c.(12493-12495)CGC>TGC p.R4165C NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 4165 Extracellular (Potential).|LDL-receptor class B 35. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ACCTCAATGCGTTTATTCTTG 0.428 TTN 7273 broad.mit.edu 37 2 179498764 179498764 + Silent SNP T C C TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr2:179498764T>C uc010zfg.1 - 180 34982 c.34758A>G c.(34756-34758)AAA>AAG p.K11586K TTN_uc010zfh.1_Silent_p.K5281K|TTN_uc010zfi.1_Silent_p.K5214K|TTN_uc010zfj.1_Silent_p.K5089K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 12513 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTCACCTTCTTTTACTGTTT 0.358 DNAJC10 54431 broad.mit.edu 37 2 183584858 183584858 + Missense_Mutation SNP G A A TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr2:183584858G>A uc002uow.1 + 4 744 c.329G>A c.(328-330)GGC>GAC p.G110D DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Missense_Mutation_p.G110D|DNAJC10_uc010fro.1_RNA NM_018981 NP_061854 Q8IXB1 DJC10_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 10 110 apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding ovary(1)|large_intestine(1)|breast(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) AATCAAGGTGGCCAGTATGAA 0.308 TNS1 7145 broad.mit.edu 37 2 218712554 218712554 + Missense_Mutation SNP G A A TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr2:218712554G>A uc002vgt.2 - 17 2709 c.2311C>T c.(2311-2313)CAT>TAT p.H771Y TNS1_uc002vgr.2_Missense_Mutation_p.H771Y|TNS1_uc002vgs.2_Missense_Mutation_p.H771Y|TNS1_uc010zjv.1_Missense_Mutation_p.H771Y|TNS1_uc010fvj.1_Missense_Mutation_p.H839Y|TNS1_uc010fvk.1_Missense_Mutation_p.H896Y|TNS1_uc010fvi.1_Missense_Mutation_p.H458Y NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN tensin 771 cytoplasm|cytoskeleton|focal adhesion actin binding ovary(3)|breast(1) 4 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) CCCAACGAATGCCCACTGGGG 0.607 ABCB6 10058 broad.mit.edu 37 2 220080773 220080773 + Missense_Mutation SNP C T T TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr2:220080773C>T uc002vkc.1 - 5 1377 c.1100G>A c.(1099-1101)GGG>GAG p.G367E ABCB6_uc010fwe.1_Missense_Mutation_p.G321E|ABCB6_uc010zku.1_Intron NM_005689 NP_005680 Q9NP58 ABCB6_HUMAN ATP-binding cassette, sub-family B, member 6 367 ABC transmembrane type-1. cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity breast(1)|central_nervous_system(1) 2 Renal(207;0.0474) Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CAGCACCTCCCCTGTGCGGCG 0.672 ITSN1 6453 broad.mit.edu 37 21 35230998 35230998 + Silent SNP A G G TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr21:35230998A>G uc002yta.1 + 31 4060 c.3792A>G c.(3790-3792)CAA>CAG p.Q1264Q DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Silent_p.Q1259Q|ITSN1_uc002ytj.2_Silent_p.Q1259Q|ITSN1_uc010gmm.1_RNA NM_003024 NP_003015 Q15811 ITSN1_HUMAN intersectin 1 isoform ITSN-l 1264 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity ovary(3)|skin(1) 4 AGATTTTTCAAAAACCCCTGA 0.428 UMODL1 89766 broad.mit.edu 37 21 43524017 43524017 + Nonsense_Mutation SNP C T T TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr21:43524017C>T uc002zaf.1 + 9 1339 c.1339C>T c.(1339-1341)CGA>TGA p.R447* UMODL1_uc002zad.1_Nonsense_Mutation_p.R375*|UMODL1_uc002zae.1_Nonsense_Mutation_p.R375*|UMODL1_uc002zag.1_Nonsense_Mutation_p.R447*|UMODL1_uc010gow.1_Nonsense_Mutation_p.R239*|UMODL1_uc002zai.1_Nonsense_Mutation_p.R98*|UMODL1_uc010gox.1_RNA|UMODL1_uc010goy.1_Nonsense_Mutation_p.R98*|UMODL1_uc002zaj.1_RNA|UMODL1_uc010goz.1_Nonsense_Mutation_p.R192*|C21orf128_uc002zak.2_Silent_p.S72S NM_001004416 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 isoform 1 precursor 447 Extracellular (Potential).|SEA 1. R -> Q. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity ovary(2)|skin(1) 3 TGACTTGTACCGAAGTGGGAA 0.562 KRTAP10-3 386682 broad.mit.edu 37 21 45978434 45978434 + Silent SNP G A A TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr21:45978434G>A uc002zfj.1 - 1 210 c.165C>T c.(163-165)AGC>AGT p.S55S C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198696 NP_941969 P60369 KR103_HUMAN keratin associated protein 10-3 55 18 X 5 AA repeats of C-C-X(3). keratin filament skin(1) 1 GGCAGCAGGGGCTGGACACAC 0.652 LZTR1 8216 broad.mit.edu 37 22 21351542 21351542 + Missense_Mutation SNP C T T TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr22:21351542C>T uc002zto.2 + 21 2531 c.2428C>T c.(2428-2430)CGG>TGG p.R810W LZTR1_uc002ztn.2_Missense_Mutation_p.R769W|LZTR1_uc011ahy.1_Missense_Mutation_p.R791W|LZTR1_uc002ztp.2_3'UTR NM_006767 NP_006758 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 810 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity ovary(2)|lung(2) 4 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) GCCCACCCTGCGGTCGCTGAG 0.642 KDR 3791 broad.mit.edu 37 4 55976857 55976857 + Missense_Mutation SNP G A A rs151317075 byFrequency TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr4:55976857G>A uc003has.2 - 8 1357 c.1055C>T c.(1054-1056)GCG>GTG p.A352V KDR_uc003hat.1_Missense_Mutation_p.A352V|KDR_uc011bzx.1_Missense_Mutation_p.A352V NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 352 Ig-like C2-type 4.|Extracellular (Potential). 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 p.A352V(1) lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 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) AAGGTACTTCGCAGGGATTCT 0.413 Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) TMPRSS11A 339967 broad.mit.edu 37 4 68784698 68784698 + Frame_Shift_Del DEL G - - TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr4:68784698delG uc003hdr.1 - 8 1075 c.954delC c.(952-954)TACfs p.Y318fs LOC550112_uc003hdl.3_Intron|TMPRSS11A_uc003hds.1_Frame_Shift_Del_p.Y315fs NM_182606 NP_872412 Q6ZMR5 TM11A_HUMAN transmembrane protease, serine 11A isoform 1 318 Peptidase S1.|Extracellular (Potential). cell cycle|proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity skin(1) 1 CACCACCATAGTAAAGTGCTC 0.453 UGT2B11 10720 broad.mit.edu 37 4 70079996 70079996 + Missense_Mutation SNP A G G TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr4:70079996A>G uc003heh.2 - 1 454 c.445T>C c.(445-447)TTT>CTT p.F149L uc003hei.1_Intron NM_001073 NP_001064 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, 149 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 3 GCATCTGCAAAAACGATGTCA 0.383 UGT2B28 54490 broad.mit.edu 37 4 70156481 70156481 + Missense_Mutation SNP C T T TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr4:70156481C>T uc003hej.2 + 5 1264 c.1262C>T c.(1261-1263)TCG>TTG p.S421L UGT2B28_uc010ihr.2_Intron NM_053039 NP_444267 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, 421 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Flunitrazepam(DB01544) CACACAATGTCGAGTACAGAC 0.423 TACR3 6870 broad.mit.edu 37 4 104511030 104511030 + Missense_Mutation SNP C T T TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr4:104511030C>T uc003hxe.1 - 5 1350 c.1207G>A c.(1207-1209)GTG>ATG p.V403M NM_001059 NP_001050 P29371 NK3R_HUMAN tachykinin receptor 3 403 Cytoplasmic (Potential). integral to plasma membrane tachykinin receptor activity ovary(3)|lung(2)|breast(1)|skin(1) 7 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) ATTCTGGTCACGGTGTACATA 0.498 C5orf33 133686 broad.mit.edu 37 5 36197710 36197710 + Missense_Mutation SNP A T T TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr5:36197710A>T uc003jkf.3 - 11 1123 c.1123T>A c.(1123-1125)TTC>ATC p.F375I C5orf33_uc003jke.3_RNA|C5orf33_uc010iux.2_Missense_Mutation_p.F180I|C5orf33_uc003jkg.3_Missense_Mutation_p.F212I|C5orf33_uc011cov.1_Missense_Mutation_p.F234I NM_001085411 NP_001078880 Q4G0N4 NAKD1_HUMAN hypothetical protein LOC133686 isoform 1 375 NAD+ kinase activity 0 all_lung(31;5.63e-05) Epithelial(62;0.0254)|all cancers(62;0.0805)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CGAATACTGAAAAGTATTTTT 0.353 ADAMTS19 171019 broad.mit.edu 37 5 129037232 129037232 + Missense_Mutation SNP C T T TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr5:129037232C>T uc003kvb.1 + 20 3088 c.3088C>T c.(3088-3090)CGC>TGC p.R1030C ADAMTS19_uc010jdh.1_RNA NM_133638 NP_598377 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 1030 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|breast(2)|lung(1)|skin(1) 9 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) CTCTGCCCAGCGCTGTGAGGG 0.592 SLC22A5 6584 broad.mit.edu 37 5 131728210 131728210 + Silent SNP C T T TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr5:131728210C>T uc003kww.3 + 8 1617 c.1353C>T c.(1351-1353)GCC>GCT p.A451A SLC22A5_uc003kwx.3_Silent_p.A475A|SLC22A5_uc010jdr.1_Silent_p.A71A NM_003060 NP_003051 O76082 S22A5_HUMAN solute carrier family 22 member 5 451 Helical; Name=10; (Potential). positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport apical plasma membrane|brush border membrane|integral to membrane ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity 0 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) TGTACACAGCCGAGCTGTATC 0.532 ZNF76 7629 broad.mit.edu 37 6 35255444 35255444 + Missense_Mutation SNP T C C TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr6:35255444T>C uc003oki.1 + 5 459 c.254T>C c.(253-255)CTG>CCG p.L85P ZNF76_uc011dsy.1_Missense_Mutation_p.L85P|ZNF76_uc011dsz.1_Missense_Mutation_p.L85P|ZNF76_uc003okj.1_Missense_Mutation_p.L85P|ZNF76_uc011dsx.1_Missense_Mutation_p.L85P NM_003427 NP_003418 P36508 ZNF76_HUMAN zinc finger protein 76 (expressed in testis) 85 3 X 12 AA approximate repeats. regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CCCAGCACCCTGGAAGCCGTC 0.577 DAAM2 23500 broad.mit.edu 37 6 39864627 39864627 + Missense_Mutation SNP G A A TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr6:39864627G>A uc003oow.2 + 20 2537 c.2381G>A c.(2380-2382)CGT>CAT p.R794H DAAM2_uc003oox.2_Missense_Mutation_p.R794H NM_015345 NP_056160 Q86T65 DAAM2_HUMAN dishevelled associated activator of 794 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2)|skin(1) 3 Ovarian(28;0.0355)|Colorectal(47;0.196) CGCAGCAAGCGTCTTAGACAG 0.612 PRPH2 5961 broad.mit.edu 37 6 42672106 42672106 + Silent SNP G A A TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr6:42672106G>A uc003osk.2 - 2 1111 c.825C>T c.(823-825)TTC>TTT p.F275F NM_000322 NP_000313 P23942 PRPH2_HUMAN peripherin 2 275 Helical; (Potential). cell adhesion|visual perception integral to membrane ovary(4)|central_nervous_system(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904) GGCCTACCTCGAAGAGCCAAA 0.627 KHDRBS2 202559 broad.mit.edu 37 6 62995779 62995779 + Silent SNP C T T TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr6:62995779C>T uc003peg.2 - 1 322 c.75G>A c.(73-75)TCG>TCA p.S25S NM_152688 NP_689901 Q5VWX1 KHDR2_HUMAN KH domain-containing, RNA-binding, signal 25 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding skin(7)|ovary(3)|liver(1) 11 BRCA - Breast invasive adenocarcinoma(397;0.149) CCAAAAGGCGCGACGCATGCA 0.567 SASH1 23328 broad.mit.edu 37 6 148840740 148840740 + Missense_Mutation SNP A G G TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr6:148840740A>G uc003qme.1 + 10 1395 c.920A>G c.(919-921)TAC>TGC p.Y307C SASH1_uc011eeb.1_Missense_Mutation_p.Y68C NM_015278 NP_056093 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 307 protein binding central_nervous_system(1) 1 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) TCCGCCCTCTACTCTGGCGTG 0.552 PKD1L1 168507 broad.mit.edu 37 7 47835588 47835588 + Missense_Mutation SNP T C C TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr7:47835588T>C uc003tny.1 - 55 8354 c.8354A>G c.(8353-8355)CAC>CGC p.H2785R C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 2785 Cytoplasmic (Potential). cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 ACAGCTTACGTGATTCTCAAC 0.413 MLL3 58508 broad.mit.edu 37 7 151960173 151960173 + Silent SNP A G G TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr7:151960173A>G uc003wla.2 - 9 1446 c.1227T>C c.(1225-1227)TGT>TGC p.C409C NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 409 PHD-type 2. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) ACCCTTTGTCACACGTATCAC 0.308 N medulloblastoma RIMS2 9699 broad.mit.edu 37 8 105026843 105026843 + Missense_Mutation SNP A G G TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr8:105026843A>G uc003yls.2 + 17 2795 c.2554A>G c.(2554-2556)AAC>GAC p.N852D RIMS2_uc003ylp.2_Missense_Mutation_p.K1112E|RIMS2_uc003ylw.2_Missense_Mutation_p.N926D|RIMS2_uc003ylq.2_Missense_Mutation_p.K926E|RIMS2_uc003ylr.2_Missense_Mutation_p.K951E NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GTTGGATAGAAGTAAGTTTTA 0.418 HNSCC(12;0.0054) DPYS 1807 broad.mit.edu 37 8 105456494 105456494 + Missense_Mutation SNP C A A TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr8:105456494C>A uc003yly.3 - 4 904 c.775G>T c.(775-777)GCG>TCG p.A259S NM_001385 NP_001376 Q14117 DPYS_HUMAN dihydropyrimidinase 259 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CTTGCATCCGCTATCACCTTA 0.493 COL14A1 7373 broad.mit.edu 37 8 121259908 121259908 + Missense_Mutation SNP C T T TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr8:121259908C>T uc003yox.2 + 21 2801 c.2536C>T c.(2536-2538)CGC>TGC p.R846C COL14A1_uc003yoy.2_Missense_Mutation_p.R524C NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 846 Fibronectin type-III 7. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TAACCGGTTGCGCATTACGTG 0.458 TG 7038 broad.mit.edu 37 8 133879299 133879299 + Silent SNP G A A rs145163419 byFrequency TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr8:133879299G>A uc003ytw.2 + 1 95 c.54G>A c.(52-54)TCG>TCA p.S18S NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 18 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 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) GCTGGGTGTCGGCCAATATCT 0.483 PRUNE2 158471 broad.mit.edu 37 9 79469120 79469120 + Missense_Mutation SNP C T T TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr9:79469120C>T uc010mpk.2 - 2 165 c.41G>A c.(40-42)CGA>CAA p.R14Q PRUNE2_uc004akn.2_Missense_Mutation_p.R14Q NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 14 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 GCGTTTGCTTCGATTCTGAAA 0.323 AKNA 80709 broad.mit.edu 37 9 117129898 117129898 + Silent SNP C T T TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr9:117129898C>T uc004biq.3 - 5 1788 c.1653G>A c.(1651-1653)CGG>CGA p.R551R AKNA_uc004bio.3_Silent_p.R11R|AKNA_uc004bip.3_Silent_p.R470R|AKNA_uc004bir.3_Silent_p.R551R|AKNA_uc004bis.3_Silent_p.R551R|AKNA_uc010mve.2_Silent_p.R432R|AKNA_uc004biu.1_Silent_p.R292R|AKNA_uc004biv.1_Silent_p.R551R NM_030767 NP_110394 Q7Z591 AKNA_HUMAN AT-hook transcription factor 551 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(4)|central_nervous_system(2) 6 CAGAGATGTCCCGGTTCTCCG 0.617 TNC 3371 broad.mit.edu 37 9 117797581 117797581 + Missense_Mutation SNP C T T TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr9:117797581C>T uc004bjj.3 - 22 6051 c.5689G>A c.(5689-5691)GAG>AAG p.E1897K TNC_uc010mvf.2_Missense_Mutation_p.E1624K NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 1897 Fibronectin type-III 15. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding p.E1897K(1) central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 GACTGAACCTCAGTAGCAGTC 0.433 OR5C1 392391 broad.mit.edu 37 9 125551260 125551260 + Missense_Mutation SNP G A A TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chr9:125551260G>A uc011lzd.1 + 1 49 c.49G>A c.(49-51)GTC>ATC p.V17I NM_001001923 NP_001001923 Q8NGR4 OR5C1_HUMAN olfactory receptor, family 5, subfamily C, 17 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 TGCTGAATTCGTCCTCCTGGG 0.587 ZNF41 7592 broad.mit.edu 37 X 47308259 47308259 + Missense_Mutation SNP T C C TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chrX:47308259T>C uc004dhs.3 - 4 1103 c.1036A>G c.(1036-1038)AGC>GGC p.S346G ZNF41_uc004dhu.3_Missense_Mutation_p.S338G|ZNF41_uc004dht.3_Missense_Mutation_p.S218G|ZNF41_uc004dhv.3_Missense_Mutation_p.S314G|ZNF41_uc004dhw.3_Missense_Mutation_p.S306G|ZNF41_uc004dhy.3_Missense_Mutation_p.S304G|ZNF41_uc004dhx.3_Missense_Mutation_p.S304G|ZNF41_uc011mlm.1_Missense_Mutation_p.S218G NM_153380 NP_700359 P51814 ZNF41_HUMAN zinc finger protein 41 346 C2H2-type 2; degenerate. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 all_lung(315;0.000129) ACTTTGTTGCTTTTGTCACAT 0.418 BCORL1 63035 broad.mit.edu 37 X 129190028 129190028 + Nonsense_Mutation SNP G T T TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chrX:129190028G>T uc004evb.1 + 13 5167 c.5053G>T c.(5053-5055)GAG>TAG p.E1685* BCORL1_uc004evc.1_Nonsense_Mutation_p.E521* NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 co-repressor-like 1 1685 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(4)|breast(2)|lung(1) 7 AGGCTCCTCTGAGACTGTGGA 0.627 PASD1 139135 broad.mit.edu 37 X 150770028 150770028 + Missense_Mutation SNP G T T TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 Somatic Phase_I Capture Illumina GAIIx cc0c78e7-1d76-45e6-b043-dc209bb9a32a bb4d23a6-f348-4f55-b06f-0c47175c8836 g.chrX:150770028G>T uc004fev.3 + 2 335 c.3G>T c.(1-3)ATG>ATT p.M1I NM_173493 NP_775764 Q8IV76 PASD1_HUMAN PAS domain containing 1 1 nucleus signal transducer activity ovary(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) AATAATGAATGAAGATGAGAG 0.408