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 EPHB2 2048 broad.mit.edu 37 1 23110979 23110979 + Missense_Mutation SNP G A A TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr1:23110979G>A uc009vqj.1 + 3 366 c.221G>A c.(220-222)CGG>CAG p.R74Q EPHB2_uc001bge.2_Missense_Mutation_p.R74Q|EPHB2_uc001bgf.2_Missense_Mutation_p.R74Q|EPHB2_uc010odu.1_Missense_Mutation_p.R74Q NM_017449 NP_059145 P29323 EPHB2_HUMAN ephrin receptor EphB2 isoform 1 precursor 74 Extracellular (Potential). axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity ovary(3)|lung(1)|pancreas(1) 5 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) AACTGGCTACGGACCAAGTTT 0.587 Hereditary_Prostate_Cancer WNT2B 7482 broad.mit.edu 37 1 113059824 113059825 + Frame_Shift_Del DEL CT - - TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr1:113059824_113059825delCT uc001ecb.2 + 4 1278_1279 c.763_764delCT c.(763-765)CTCfs p.L255fs WNT2B_uc001eca.2_Frame_Shift_Del_p.L236fs|WNT2B_uc009wgg.2_Frame_Shift_Del_p.L163fs NM_024494 NP_078613 Q93097 WNT2B_HUMAN wingless-type MMTV integration site family, 255 chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding|signal transducer activity ovary(2)|breast(2)|skin(1) 5 Lung SC(450;0.246) all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTGGCGTGCACTCTCAGATTTC 0.624 FLG 2312 broad.mit.edu 37 1 152279764 152279764 + Missense_Mutation SNP C T T TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr1:152279764C>T uc001ezu.1 - 3 7634 c.7598G>A c.(7597-7599)CGT>CAT p.R2533H NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2533 Ser-rich.|Filaggrin 15. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTCATGGTGACGCGACCCTGA 0.592 Ichthyosis NRP1 8829 broad.mit.edu 37 10 33545336 33545336 + Missense_Mutation SNP C T T TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr10:33545336C>T uc001iwx.3 - 5 1245 c.722G>A c.(721-723)GGC>GAC p.G241D NRP1_uc001iwv.3_Missense_Mutation_p.G241D|NRP1_uc009xlz.2_Missense_Mutation_p.G241D|NRP1_uc001iww.3_Missense_Mutation_p.G60D|NRP1_uc001iwy.3_Missense_Mutation_p.G241D|NRP1_uc001iwz.2_Missense_Mutation_p.G241D|NRP1_uc001ixa.2_Missense_Mutation_p.G241D|NRP1_uc001ixb.1_Missense_Mutation_p.G241D|NRP1_uc001ixc.1_Missense_Mutation_p.G241D NM_003873 NP_003864 O14786 NRP1_HUMAN neuropilin 1 isoform a 241 Extracellular (Potential).|CUB 2. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 Palifermin(DB00039)|Pegaptanib(DB04895) GGAGAGAATGCCCGATGAGGA 0.483 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + Missense_Mutation SNP A G G rs2257765 TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr10:38654432A>G uc010qex.1 + 5 599 c.524A>G c.(523-525)AAT>AGT p.N175S HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270); 0 TCATCTCGCAATGCAAGGAAA 0.453 BMS1 9790 broad.mit.edu 37 10 43312886 43312888 + In_Frame_Del DEL GAA - - TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr10:43312886_43312888delGAA uc001jaj.2 + 15 2882_2884 c.2524_2526delGAA c.(2524-2526)GAAdel p.E842del NM_014753 NP_055568 Q14692 BMS1_HUMAN BMS1-like, ribosome assembly protein 842 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity ovary(2)|upper_aerodigestive_tract(1) 3 AGAATATGATGAAGGAGAAAGCA 0.384 CYP2C8 1558 broad.mit.edu 37 10 96827051 96827051 + Missense_Mutation SNP C T T TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr10:96827051C>T uc001kkb.2 - 3 490 c.395G>A c.(394-396)CGG>CAG p.R132Q CYP2C8_uc001kkc.2_RNA|CYP2C8_uc010qoa.1_Missense_Mutation_p.R62Q|CYP2C8_uc010qob.1_Missense_Mutation_p.R46Q|CYP2C8_uc010qoc.1_Missense_Mutation_p.R30Q|CYP2C8_uc010qod.1_Missense_Mutation_p.R46Q NM_000770 NP_000761 P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, 132 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding 0 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) CCCAAAATTCCGCAAGGTTGT 0.483 NEURL 9148 broad.mit.edu 37 10 105331407 105331407 + Missense_Mutation SNP G T T TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr10:105331407G>T uc001kxh.2 + 3 887 c.477G>T c.(475-477)GAG>GAT p.E159D NM_004210 NP_004201 O76050 NEU1A_HUMAN neuralized-like 159 NHR 1. nervous system development perinuclear region of cytoplasm zinc ion binding 0 Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125) CGCTGCCTGAGGAGTTTGCCA 0.612 MUC2 4583 broad.mit.edu 37 11 1080301 1080301 + Missense_Mutation SNP G A A TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr11:1080301G>A uc001lsx.1 + 8 1048 c.1021G>A c.(1021-1023)GGG>AGG p.G341R NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 341 TIL. inner mucus layer|outer mucus layer protein binding lung(1)|breast(1) 2 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) TGACGACATCGGGGACAGTGG 0.642 OR5M11 219487 broad.mit.edu 37 11 56310330 56310330 + Missense_Mutation SNP G C C TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr11:56310330G>C uc010rjl.1 - 1 404 c.404C>G c.(403-405)ACG>AGG p.T135R NM_001005245 NP_001005245 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, 135 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TCTCCTGGACGTTTTCACACT 0.498 UVRAG 7405 broad.mit.edu 37 11 75590966 75590966 + Missense_Mutation SNP G A A TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr11:75590966G>A uc001oxc.2 + 4 555 c.314G>A c.(313-315)CGT>CAT p.R105H UVRAG_uc010rrw.1_Missense_Mutation_p.R4H NM_003369 NP_003360 Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated 105 C2. DNA repair|positive regulation of autophagy early endosome|late endosome|lysosome protein binding skin(4)|lung(2) 6 ATGCCAGACCGTCTTGATACA 0.423 NOP2 4839 broad.mit.edu 37 12 6675301 6675301 + Missense_Mutation SNP T G G TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr12:6675301T>G uc001qpk.1 - 4 484 c.440A>C c.(439-441)GAC>GCC p.D147A NOP2_uc009zeq.1_5'Flank|NOP2_uc001qph.1_Missense_Mutation_p.D143A|NOP2_uc001qpi.1_Missense_Mutation_p.D143A|NOP2_uc001qpj.1_Intron|NOP2_uc001qpl.1_Missense_Mutation_p.D147A|NOP2_uc001qpm.1_Missense_Mutation_p.D147A P46087 NOP2_HUMAN Homo sapiens cDNA FLJ31646 fis, clone NT2RI2003921, highly similar to PROLIFERATING-CELL NUCLEOLAR ANTIGEN P120. 147 positive regulation of cell proliferation|rRNA processing nucleolus protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity ovary(2) 2 AGAGTTGGAGTCAGCTCCATA 0.488 GEFT 115557 broad.mit.edu 37 12 58010639 58010640 + Frame_Shift_Ins INS - A A TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr12:58010639_58010640insA uc001spb.2 + 15 2165_2166 c.1705_1706insA c.(1705-1707)CAAfs p.Q569fs GEFT_uc009zpy.2_Frame_Shift_Ins_p.Q608fs|GEFT_uc001spa.2_Frame_Shift_Ins_p.Q463fs|uc001spc.2_Intron|GEFT_uc001spd.2_Frame_Shift_Ins_p.Q274fs NM_182947 NP_891992 Q86VW2 ARHGP_HUMAN RhoA/RAC/CDC42 exchange factor isoform 1 569 regulation of Rho protein signal transduction cytosol|plasma membrane|sarcomere Rho guanyl-nucleotide exchange factor activity 0 Melanoma(17;0.122) CCCTCCCTGCCAAGCCAGACTT 0.554 ATP8A2 51761 broad.mit.edu 37 13 26349058 26349058 + Missense_Mutation SNP G T T TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr13:26349058G>T uc001uqk.2 + 27 2782 c.2640G>T c.(2638-2640)TTG>TTT p.L880F ATP8A2_uc010tdi.1_Missense_Mutation_p.L840F|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.L430F NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, 840 Helical; (Potential). ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|large_intestine(1)|skin(1) 4 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) AGTGCATCTTGTACTGCTTCT 0.388 KIAA1704 55425 broad.mit.edu 37 13 45580365 45580367 + In_Frame_Del DEL GAT - - rs138421508 TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr13:45580365_45580367delGAT uc001uzq.2 + 3 353_355 c.250_252delGAT c.(250-252)GATdel p.D88del KIAA1704_uc010tfo.1_RNA|KIAA1704_uc001uzr.1_In_Frame_Del_p.D88del|KIAA1704_uc001uzs.2_5'UTR|KIAA1704_uc001uzt.2_5'UTR NM_018559 NP_061029 Q8IXQ4 K1704_HUMAN hypothetical protein LOC55425 88 Poly-Asp. pancreas(1)|skin(1) 2 Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126) Ggatgatgacgatgatgatgatg 0.286 SIX4 51804 broad.mit.edu 37 14 61189964 61189964 + Missense_Mutation SNP G A A TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr14:61189964G>A uc001xfc.2 - 1 829 c.829C>T c.(829-831)CGC>TGC p.R277C SIX4_uc010app.1_Missense_Mutation_p.R269C NM_017420 NP_059116 Q9UIU6 SIX4_HUMAN sine oculis homeobox homolog 4 277 Homeobox. nucleus breast(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0275) TTCCTGTCGCGCTGCCGGCGG 0.502 ACOT1 641371 broad.mit.edu 37 14 74008216 74008216 + Silent SNP C G G rs142030871 by1000genomes TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr14:74008216C>G uc001xol.1 + 2 675 c.477C>G c.(475-477)GGC>GGG p.G159G HEATR4_uc010tua.1_Intron|ACOT1_uc010tuc.1_Silent_p.G159G NM_001037161 NP_001032238 Q86TX2 ACOT1_HUMAN acyl-CoA thioesterase 1 159 acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process cytosol carboxylesterase activity|palmitoyl-CoA hydrolase activity 0 OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033) CCTTTCCTGGCATTGTGGACA 0.363 AGBL1 123624 broad.mit.edu 37 15 86838560 86838560 + Silent SNP G A A TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr15:86838560G>A uc002blz.1 + 16 2237 c.2157G>A c.(2155-2157)ACG>ACA p.T719T AGBL1_uc002bma.1_Silent_p.T450T|AGBL1_uc002bmb.1_Silent_p.T413T NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 719 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 TCTGCCAGACGCTGGGAGGGA 0.507 Unknown 0 broad.mit.edu 37 16 15457701 15457701 + Missense_Mutation SNP G A A TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr16:15457701G>A uc010bvf.1 - 9 812 c.812C>T c.(811-813)GCT>GTT p.A271V RecName: Full=NPIP-like protein 1; AGGGGAGTGAGCAGACACTCG 0.562 ACSM2B 348158 broad.mit.edu 37 16 20548636 20548636 + Nonsense_Mutation SNP G A A TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr16:20548636G>A uc002dhj.3 - 15 1888 c.1678C>T c.(1678-1680)CGA>TGA p.R560* ACSM2B_uc002dhk.3_Nonsense_Mutation_p.R560* NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 560 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 AGTTTGGTTCGTTGAATTTTC 0.473 CACNG3 10368 broad.mit.edu 37 16 24366257 24366257 + Silent SNP C T T rs147734423 TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr16:24366257C>T uc002dmf.2 + 3 1599 c.399C>T c.(397-399)AAC>AAT p.N133N NM_006539 NP_006530 O60359 CCG3_HUMAN voltage-dependent calcium channel gamma-3 133 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity 0 GBM - Glioblastoma multiforme(48;0.0809) GCAGACACAACGTCATTCTCA 0.587 ITGAM 3684 broad.mit.edu 37 16 31286996 31286996 + Missense_Mutation SNP C T T TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr16:31286996C>T uc002ebq.2 + 9 1083 c.985C>T c.(985-987)CGG>TGG p.R329W ITGAM_uc002ebr.2_Missense_Mutation_p.R329W|ITGAM_uc010cam.1_5'UTR NM_000632 NP_000623 P11215 ITAM_HUMAN integrin alpha M isoform 2 precursor 329 Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity kidney(1) 1 GAACCAGCTTCGGGAGAAGAT 0.542 HYDIN 54768 broad.mit.edu 37 16 71004595 71004595 + Missense_Mutation SNP C T T TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr16:71004595C>T uc002ezr.2 - 36 5572 c.5444G>A c.(5443-5445)CGT>CAT p.R1815H NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 1816 ovary(1)|skin(1) 2 Ovarian(137;0.0654) ACCTTGCCCACGTGCCAGGAG 0.507 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C T T rs11540652 TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr17:7577538C>T uc002gim.2 - 7 937 c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation). 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.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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) GATGGGCCTCCGGTTCATGCC 0.572 R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG) 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) TP53 7157 broad.mit.edu 37 17 7578550 7578550 + Missense_Mutation SNP G T T TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr17:7578550G>T uc002gim.2 - 5 574 c.380C>A c.(379-381)TCC>TAC p.S127Y TP53_uc002gig.1_Missense_Mutation_p.S127Y|TP53_uc002gih.2_Missense_Mutation_p.S127Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.S127Y|TP53_uc010cni.1_Missense_Mutation_p.S127Y|TP53_uc002gij.2_Missense_Mutation_p.S127Y|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.S34Y|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.S88Y NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 127 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation). 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.S127F(18)|p.S127Y(8)|p.0?(7)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.S127P(3)|p.S127T(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127S(1)|p.S127C(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S127fs*43(1)|p.S127fs*42(1)|p.Y126fs*18(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) GAGGGCAGGGGAGTACTGTAG 0.552 111 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) AMAC1 146861 broad.mit.edu 37 17 33520323 33520323 + Missense_Mutation SNP C T T TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr17:33520323C>T uc002hjd.2 - 1 1090 c.1004G>A c.(1003-1005)AGG>AAG p.R335K NM_152462 NP_689675 Q8N808 AMAC1_HUMAN acyl-malonyl condensing enzyme 1 335 integral to membrane 0 BRCA - Breast invasive adenocarcinoma(366;0.0917) CTCCTCCACCCTCCCTGTCCT 0.557 WNT3 7473 broad.mit.edu 37 17 44851175 44851175 + Missense_Mutation SNP T C C TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr17:44851175T>C uc002ikv.2 - 2 300 c.181A>G c.(181-183)AAT>GAT p.N61D NM_030753 NP_110380 P56703 WNT3_HUMAN wingless-type MMTV integration site family, 61 canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|signal transducer activity lung(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.0257) TCGATGTAATTGCGGCAGAAG 0.657 C17orf47 284083 broad.mit.edu 37 17 56621053 56621053 + Missense_Mutation SNP C A A TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr17:56621053C>A uc002iwq.1 - 1 631 c.495G>T c.(493-495)AAG>AAT p.K165N SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank NM_001038704 NP_001033793 Q8NEP4 CQ047_HUMAN hypothetical protein LOC284083 165 breast(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) GTAAGTTATTCTTCTGGTCTT 0.478 CD300A 11314 broad.mit.edu 37 17 72469900 72469900 + Missense_Mutation SNP C T T TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr17:72469900C>T uc002jkv.2 + 2 587 c.266C>T c.(265-267)ACC>ATC p.T89I CD300A_uc002jkw.2_Intron|CD300A_uc010dfr.2_Intron|CD300A_uc010dfs.2_Intron NM_007261 NP_009192 Q9UGN4 CLM8_HUMAN leukocyte membrane antigen 89 Extracellular (Potential).|Ig-like V-type. cell adhesion integral to membrane|plasma membrane receptor activity ovary(1)|skin(1) 2 TTCACAGTGACCCTGGAGAAT 0.537 THEG 51298 broad.mit.edu 37 19 375850 375850 + Missense_Mutation SNP G A A TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr19:375850G>A uc002lol.2 - 1 160 c.121C>T c.(121-123)CGG>TGG p.R41W THEG_uc002lom.2_Missense_Mutation_p.R41W NM_016585 NP_057669 Q9P2T0 THEG_HUMAN Theg homolog isoform 1 41 cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding ovary(1) 1 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCTGTGACCCGCCGGCTCTCG 0.672 EEF2 1938 broad.mit.edu 37 19 3980665 3980665 + Missense_Mutation SNP A C C TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr19:3980665A>C uc002lze.2 - 9 1276 c.1193T>G c.(1192-1194)ATT>AGT p.I398S NM_001961 NP_001952 P13639 EF2_HUMAN eukaryotic translation elongation factor 2 398 cytosol|ribonucleoprotein complex GTP binding|GTPase activity|protein binding|translation elongation factor activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18) CATTTTGGAAATATACATCAT 0.527 MUC16 94025 broad.mit.edu 37 19 9046871 9046871 + Missense_Mutation SNP G A A TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr19:9046871G>A uc002mkp.2 - 5 34964 c.34760C>T c.(34759-34761)ACG>ATG p.T11587M NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 11589 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CCCAGAAACCGTTGTGCTGGT 0.522 OR7E24 26648 broad.mit.edu 37 19 9361873 9361873 + Missense_Mutation SNP A G G TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr19:9361873A>G uc002mlb.1 + 1 154 c.154A>G c.(154-156)ATG>GTG p.M52V NM_001079935 NP_001073404 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, 52 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GTTCCTGTCCATGTACCTGGT 0.577 ATP13A1 57130 broad.mit.edu 37 19 19756294 19756294 + Silent SNP C T T TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr19:19756294C>T uc002nnh.3 - 26 3580 c.3552G>A c.(3550-3552)GCG>GCA p.A1184A GMIP_uc002nnd.2_5'Flank|GMIP_uc010xrb.1_5'Flank|GMIP_uc010xrc.1_5'Flank|ATP13A1_uc002nne.2_Silent_p.A324A|ATP13A1_uc002nnf.3_Silent_p.A552A|ATP13A1_uc002nng.2_Silent_p.A1066A NM_020410 NP_065143 Q9HD20 AT131_HUMAN ATPase type 13A1 1184 Helical; (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(3)|large_intestine(2)|central_nervous_system(1) 6 CGGCCAGGAGCGCCAGGCAGA 0.647 ZNF681 148213 broad.mit.edu 37 19 23927494 23927494 + Silent SNP T C C TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr19:23927494T>C uc002nrk.3 - 4 1000 c.858A>G c.(856-858)GAA>GAG p.E286E ZNF681_uc002nrl.3_Silent_p.E217E|ZNF681_uc002nrj.3_Silent_p.E217E NM_138286 NP_612143 Q96N22 ZN681_HUMAN zinc finger protein 681 286 C2H2-type 5; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) CTTTGTCACATTCTTCACGTT 0.363 Unknown 0 broad.mit.edu 37 19 34583748 34583748 + Silent SNP G A A TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr19:34583748G>A uc002nuz.2 - 1 466 c.414C>T c.(412-414)AAC>AAT p.N138N full-length cDNA clone CS0DE007YF24 of Placenta of Homo sapiens (human). GAATGGTGTCGTTCACTTTAA 0.463 ZNF571 51276 broad.mit.edu 37 19 38056190 38056193 + Frame_Shift_Del DEL GTAA - - TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr19:38056190_38056193delGTAA uc002ogt.2 - 4 1238_1241 c.1137_1140delTTAC c.(1135-1140)ACTTACfs p.T379fs uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Frame_Shift_Del_p.T379fs NM_016536 NP_057620 Q7Z3V5 ZN571_HUMAN zinc finger protein 571 379_380 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CTCTCAGGTGGTAAGTAAGTTGTG 0.377 EXOSC5 56915 broad.mit.edu 37 19 41903139 41903139 + Missense_Mutation SNP G A A TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr19:41903139G>A uc002oqo.2 - 1 118 c.95C>T c.(94-96)GCC>GTC p.A32V CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Intron|BCKDHA_uc002oqp.1_5'Flank|BCKDHA_uc002oqq.2_5'Flank|BCKDHA_uc002oqr.2_5'Flank|BCKDHA_uc010xvz.1_5'Flank NM_020158 NP_064543 Q9NQT4 EXOS5_HUMAN exosome component Rrp46 32 DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5'-exoribonuclease activity|protein binding|RNA binding 0 CTGTTCGCAGGCAAAGTGCCG 0.582 IRGC 56269 broad.mit.edu 37 19 44222975 44222975 + Missense_Mutation SNP G A A TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr19:44222975G>A uc002oxh.2 + 2 412 c.265G>A c.(265-267)GTC>ATC p.V89I NM_019612 NP_062558 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 89 GTP. membrane GTP binding|hydrolase activity, acting on acid anhydrides ovary(1)|central_nervous_system(1)|skin(1) 3 Prostate(69;0.0435) TCTCACGGGCGTCATGGAGAC 0.701 EXOC3L2 90332 broad.mit.edu 37 19 45728158 45728158 + Missense_Mutation SNP G A A TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr19:45728158G>A uc002pay.1 - 6 459 c.418C>T c.(418-420)CGC>TGC p.R140C NM_138568 NP_612635 Q2M3D2 EX3L2_HUMAN exocyst complex component 3-like 2 140 ovary(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00883) CGGGCCAGGCGCTCGGCCAGA 0.637 SIGLEC8 27181 broad.mit.edu 37 19 51961617 51961619 + In_Frame_Del DEL GCA - - TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr19:51961617_51961619delGCA uc002pwt.2 - 1 90_92 c.23_25delTGC c.(22-27)CTGCCC>CCC p.L8del SIGLEC8_uc010yda.1_In_Frame_Del_p.L8del|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_In_Frame_Del_p.L8del NM_014442 NP_055257 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 precursor 8 cell adhesion integral to membrane sugar binding|transmembrane receptor activity ovary(2)|kidney(1)|central_nervous_system(1)|skin(1) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CAGagcaggggcagcagcagcag 0.493 LILRB2 10288 broad.mit.edu 37 19 54783691 54783691 + Missense_Mutation SNP C T T TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr19:54783691C>T uc002qfb.2 - 4 576 c.310G>A c.(310-312)GCT>ACT p.A104T LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.A104T|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.A104T|LILRB2_uc010yet.1_5'UTR|LILRB2_uc010yeu.1_RNA NM_005874 NP_005865 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, 104 Extracellular (Potential).|Ig-like C2-type 1. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity skin(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GACCACCGAGCGCGGCTGTAA 0.592 KIR2DL3 3804 broad.mit.edu 37 19 55255258 55255260 + In_Frame_Del DEL CTT - - TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr19:55255258_55255260delCTT uc002qgv.2 + 4 404_406 c.386_388delCTT c.(385-390)CCTTCT>CCT p.S130del KIR2DL3_uc002qgx.2_In_Frame_Del_p.S130del|KIR2DL3_uc002qgy.2_Intron|KIR2DL3_uc010erw.1_In_Frame_Del_p.S130del|KIR2DL1_uc002qgz.1_In_Frame_Del_p.S40del|KIR2DL3_uc002qha.1_Intron NM_015868 NP_056952 P43628 KI2L3_HUMAN killer cell immunoglobulin-like receptor, two 130 Extracellular (Potential). immune response|regulation of immune response integral to plasma membrane antigen binding|protein binding|receptor activity ovary(2) 2 GBM - Glioblastoma multiforme(193;0.0192) TATGAGAAACCTTCTCTCTCAGC 0.562 FNDC4 64838 broad.mit.edu 37 2 27716857 27716857 + Missense_Mutation SNP G A A TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr2:27716857G>A uc002rkx.2 - 4 800 c.394C>T c.(394-396)CGG>TGG p.R132W GCKR_uc002rky.2_5'Flank|GCKR_uc010ezd.2_5'Flank|GCKR_uc010ylu.1_5'Flank NM_022823 NP_073734 Q9H6D8 FNDC4_HUMAN fibronectin type III domain containing 4 132 Extracellular (Potential).|Fibronectin type-III. integral to membrane 0 Acute lymphoblastic leukemia(172;0.155) AAGTGCACCCGGGGCCCTGGG 0.607 SCN3A 6328 broad.mit.edu 37 2 166019327 166019327 + Missense_Mutation SNP T C C TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr2:166019327T>C uc002ucx.2 - 8 1198 c.706A>G c.(706-708)ATT>GTT p.I236V SCN3A_uc002ucy.2_Missense_Mutation_p.I236V|SCN3A_uc002ucz.2_Missense_Mutation_p.I236V|SCN3A_uc002uda.1_Missense_Mutation_p.I105V|SCN3A_uc002udb.1_Missense_Mutation_p.I105V NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 236 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) GCCCCCACAATGGTCTTTAAA 0.453 ZNF804A 91752 broad.mit.edu 37 2 185802513 185802513 + Missense_Mutation SNP G A A TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr2:185802513G>A uc002uph.2 + 4 2984 c.2390G>A c.(2389-2391)AGG>AAG p.R797K NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 797 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 GAATTTTTGAGGCCACCAAGT 0.383 ANKRD44 91526 broad.mit.edu 37 2 197863059 197863059 + Splice_Site SNP A G G TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr2:197863059A>G uc002uua.1 - 25 2750 c.2673_splice c.e25+1 p.K891_splice ANKRD44_uc002utz.3_Splice_Site_p.K623_splice NM_153697 NP_710181 Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 protein binding ovary(4)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(117;0.246) TCATTTACATACTTTACTACA 0.333 KIAA1486 57624 broad.mit.edu 37 2 226446958 226446958 + Silent SNP C A A TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr2:226446958C>A uc002voe.2 + 4 1000 c.825C>A c.(823-825)ATC>ATA p.I275I KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Silent_p.I45I NM_020864 NP_065915 Q9P242 K1486_HUMAN hypothetical protein LOC57624 275 ovary(2)|central_nervous_system(1) 3 Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129) Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223) AGTACCCTATCTTTGACGACT 0.542 KIAA1486 57624 broad.mit.edu 37 2 226446979 226446979 + Silent SNP C T T TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr2:226446979C>T uc002voe.2 + 4 1021 c.846C>T c.(844-846)GAC>GAT p.D282D KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Silent_p.D52D NM_020864 NP_065915 Q9P242 K1486_HUMAN hypothetical protein LOC57624 282 ovary(2)|central_nervous_system(1) 3 Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129) Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223) TGGGCCAAGACGCCAAATGTG 0.557 COL6A3 1293 broad.mit.edu 37 2 238249201 238249201 + Silent SNP G A A rs113423040 TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr2:238249201G>A uc002vwl.2 - 38 8643 c.8358C>T c.(8356-8358)TTC>TTT p.F2786F COL6A3_uc002vwo.2_Silent_p.F2580F|COL6A3_uc010znj.1_Silent_p.F2179F|COL6A3_uc002vwj.2_Silent_p.F167F NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 2786 VWFA 12.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GCTCACTGGCGAAGGTGTATA 0.547 SLCO4A1 28231 broad.mit.edu 37 20 61299253 61299253 + Silent SNP C T T rs138089582 byFrequency TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr20:61299253C>T uc002ydb.1 + 8 1834 c.1629C>T c.(1627-1629)GAC>GAT p.D543D SLCO4A1_uc002ydc.1_RNA|LOC100127888_uc002ydd.2_5'Flank|SLCO4A1_uc002yde.1_Missense_Mutation_p.T3M NM_016354 NP_057438 Q96BD0 SO4A1_HUMAN solute carrier organic anion transporter family 543 Extracellular (Potential).|Kazal-like. sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(1) 1 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;2.33e-06) CGAATGTGGACGGCCAGAAGG 0.647 KIAA1644 85352 broad.mit.edu 37 22 44692617 44692617 + Silent SNP G A A TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr22:44692617G>A uc003bet.2 - 3 349 c.216C>T c.(214-216)AAC>AAT p.N72N NM_001099294 NP_001092764 Q3SXP7 K1644_HUMAN hypothetical protein LOC85352 precursor 72 Extracellular (Potential). integral to membrane ovary(1) 1 all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222) ACTCCGTCTCGTTGCAGCAGT 0.582 CNTN4 152330 broad.mit.edu 37 3 3076350 3076350 + Silent SNP C T T TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr3:3076350C>T uc003bpc.2 + 16 2039 c.1818C>T c.(1816-1818)GAC>GAT p.D606D CNTN4_uc003bpb.1_Silent_p.D277D|CNTN4_uc003bpd.1_Silent_p.D606D|CNTN4_uc003bpe.2_Silent_p.D278D|CNTN4_uc003bpf.2_Silent_p.D277D NM_175607 NP_783200 Q8IWV2 CNTN4_HUMAN contactin 4 isoform a precursor 606 Fibronectin type-III 1. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1) 7 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) TGACAATAGACGAAATCACAG 0.537 COLQ 8292 broad.mit.edu 37 3 15512054 15512054 + Nonsense_Mutation SNP G A A TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr3:15512054G>A uc003bzx.2 - 11 832 c.706C>T c.(706-708)CGA>TGA p.R236* COLQ_uc003bzv.2_Nonsense_Mutation_p.R226*|COLQ_uc003bzz.2_Nonsense_Mutation_p.R227*|COLQ_uc010heo.2_Nonsense_Mutation_p.R202*|COLQ_uc003cac.1_RNA|COLQ_uc003cae.1_Nonsense_Mutation_p.R95*|COLQ_uc003cad.1_RNA NM_005677 NP_005668 Q9Y215 COLQ_HUMAN acetylcholinesterase collagen-like tail subunit 236 Heparan sulfate proteoglycan binding (Potential).|Collagen-like 1. acetylcholine catabolic process in synaptic cleft|asymmetric protein localization basal lamina|cell junction|collagen|extracellular space|synaptic cleft 0 TGCTTGCCTCGTTTTCCTGGT 0.552 ROBO1 6091 broad.mit.edu 37 3 79639041 79639042 + Frame_Shift_Del DEL AG - - TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr3:79639041_79639042delAG uc003dqe.2 - 2 228_229 c.20_21delCT c.(19-21)CCTfs p.P7fs NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a 7 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 large_intestine(2) 2 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) TGACCAAAAAAGGAACATGTTT 0.381 PIK3CA 5290 broad.mit.edu 37 3 178916921 178916921 + Missense_Mutation SNP A G G TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr3:178916921A>G uc003fjk.2 + 2 465 c.308A>G c.(307-309)GAA>GGA p.E103G NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 103 PI3K-ABD. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AAAGTAATTGAACCAGTAGGC 0.348 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) SDHAP2 727956 broad.mit.edu 37 3 195400728 195400728 + Silent SNP A G G rs12107841 by1000genomes TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr3:195400728A>G uc003fuw.2 + 9 1218 c.24A>G c.(22-24)CCA>CCG p.P8P SDHAP2_uc011btb.1_Missense_Mutation_p.S156G|SDHAP2_uc011btc.1_RNA|SDHAP2_uc003fuv.2_RNA SubName: Full=cDNA FLJ16373 fis, clone THYMU3000269, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial (EC 1.3.5.1); 0 GATTGTGCCCAGCCTGTACGC 0.587 HELT 391723 broad.mit.edu 37 4 185940979 185940979 + Missense_Mutation SNP C T T rs147187823 byFrequency TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr4:185940979C>T uc011ckq.1 + 3 466 c.466C>T c.(466-468)CCC>TCC p.P156S HELT_uc011cko.1_Missense_Mutation_p.P71S|HELT_uc003ixa.3_Missense_Mutation_p.P71S|HELT_uc011ckp.1_Missense_Mutation_p.P15S NM_001029887 NP_001025058 A6NFD8 HELT_HUMAN HES/HEY-like transcription factor 156 DNA binding 0 all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) CGCTGATTTTCCCCGGGGAAG 0.632 SLCO6A1 133482 broad.mit.edu 37 5 101735262 101735262 + Missense_Mutation SNP G A A rs139495343 by1000genomes TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr5:101735262G>A uc003knn.2 - 10 1983 c.1811C>T c.(1810-1812)ACG>ATG p.T604M SLCO6A1_uc003kno.2_Missense_Mutation_p.T351M|SLCO6A1_uc003knp.2_Missense_Mutation_p.T604M|SLCO6A1_uc003knq.2_Missense_Mutation_p.T542M NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, 604 Helical; Name=10; (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|skin(3)|central_nervous_system(1) 7 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) TACATACCGCGTCATGGCCAA 0.284 REEP2 51308 broad.mit.edu 37 5 137781275 137781275 + Silent SNP G A A TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr5:137781275G>A uc003lcz.2 + 7 800 c.678G>A c.(676-678)GCG>GCA p.A226A REEP2_uc003lda.2_Silent_p.A228A|REEP2_uc011cyt.1_Silent_p.A187A NM_016606 NP_057690 Q9BRK0 REEP2_HUMAN receptor accessory protein 2 226 integral to membrane 0 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) TCAAAAAAGCGCCCAAAGCTG 0.592 PCDHA12 56137 broad.mit.edu 37 5 140257259 140257259 + Silent SNP G A A TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr5:140257259G>A uc003lic.2 + 1 2329 c.2202G>A c.(2200-2202)CCG>CCA p.P734P PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.P734P NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 734 5 X 4 AA repeats of P-X-X-P.|Cytoplasmic (Potential).|PXXP 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGCGCGCCGGGCAAGCCCA 0.682 MAML1 9794 broad.mit.edu 37 5 179192466 179192466 + Missense_Mutation SNP C A A TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr5:179192466C>A uc003mkm.2 + 2 718 c.455C>A c.(454-456)TCC>TAC p.S152Y MAML1_uc003mkn.1_Missense_Mutation_p.S152Y NM_014757 NP_055572 Q92585 MAML1_HUMAN mastermind-like 1 152 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck peptide antigen binding|protein kinase binding|transcription coactivator activity lung(4)|ovary(2) 6 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCATCTCTTCCAATGGACTG 0.602 DSP 1832 broad.mit.edu 37 6 7583891 7583891 + Silent SNP G A A TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr6:7583891G>A uc003mxp.1 + 24 6675 c.6396G>A c.(6394-6396)GGG>GGA p.G2132G DSP_uc003mxq.1_Silent_p.G1533G NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 2132 Plectin 4.|Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TTGCTTCAGGGGGTGTAGTAG 0.473 JARID2 3720 broad.mit.edu 37 6 15520428 15520428 + Silent SNP C T T TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr6:15520428C>T uc003nbj.2 + 18 3931 c.3687C>T c.(3685-3687)CCC>CCT p.P1229P JARID2_uc011div.1_Silent_p.P1057P NM_004973 NP_004964 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 protein 1229 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding ovary(2)|lung(1)|pancreas(1) 4 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) TGGACGTGCCCCCCTCCCGTC 0.373 HIST1H2BF 8343 broad.mit.edu 37 6 26199947 26199947 + Missense_Mutation SNP G A A TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr6:26199947G>A uc003ngx.2 + 1 161 c.161G>A c.(160-162)GGC>GAC p.G54D HIST1H3D_uc003ngv.2_5'Flank|HIST1H2AD_uc003ngw.2_5'Flank NM_003522 NP_003513 P62807 H2B1C_HUMAN histone cluster 1, H2bf 54 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding 0 all_hematologic(11;0.196) CCCGACACCGGCATCTCATCC 0.567 LGSN 51557 broad.mit.edu 37 6 64004847 64004847 + Missense_Mutation SNP A C C TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr6:64004847A>C uc003peh.2 - 2 168 c.134T>G c.(133-135)GTG>GGG p.V45G LGSN_uc003pei.2_Missense_Mutation_p.V45G|LGSN_uc003pej.1_Missense_Mutation_p.V45G NM_016571 NP_057655 Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase 45 glutamine biosynthetic process glutamate-ammonia ligase activity skin(2) 2 L-Glutamic Acid(DB00142) CGTTTCTCCCACTTCAGTTGA 0.393 HECA 51696 broad.mit.edu 37 6 139487771 139487771 + Missense_Mutation SNP G A A TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr6:139487771G>A uc003qin.2 + 2 907 c.622G>A c.(622-624)GAG>AAG p.E208K NM_016217 NP_057301 Q9UBI9 HDC_HUMAN headcase 208 respiratory tube development 0 GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387) GTCTGGCTCCGAGAAGAACAC 0.592 NOD1 10392 broad.mit.edu 37 7 30492358 30492358 + Silent SNP G A A rs150842987 TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr7:30492358G>A uc003tav.2 - 6 1198 c.675C>T c.(673-675)GAC>GAT p.D225D NOD1_uc010kvs.2_Intron NM_006092 NP_006083 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain 225 NACHT. activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|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 basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity ovary(1)|skin(1) 2 TGACCCCTGCGTCTAGCCGGC 0.577 VPS41 27072 broad.mit.edu 37 7 38835094 38835094 + Missense_Mutation SNP G C C TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr7:38835094G>C uc003tgy.2 - 9 714 c.688C>G c.(688-690)CTG>GTG p.L230V VPS41_uc003tgz.2_Missense_Mutation_p.L205V|VPS41_uc010kxn.2_Intron NM_014396 NP_055211 P49754 VPS41_HUMAN vacuolar protein sorting 41 isoform 1 230 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 CCAATAATCAGTGTCACATTG 0.468 POM121L12 285877 broad.mit.edu 37 7 53103860 53103860 + Missense_Mutation SNP G A A TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr7:53103860G>A uc003tpz.2 + 1 512 c.496G>A c.(496-498)GCC>ACC p.A166T NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 166 0 ccgccccgccgcccAGGAGCT 0.587 POM121L12 285877 broad.mit.edu 37 7 53104151 53104151 + Missense_Mutation SNP G A A TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr7:53104151G>A uc003tpz.2 + 1 803 c.787G>A c.(787-789)GCC>ACC p.A263T NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 263 0 CGCCCCATCCGCCATCTGGGA 0.662 EGFR 1956 broad.mit.edu 37 7 55221822 55221822 + Missense_Mutation SNP C A A rs149840192 TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr7:55221822C>A uc003tqk.2 + 7 1112 c.866C>A c.(865-867)GCC>GAC p.A289D EGFR_uc003tqh.2_Missense_Mutation_p.A289D|EGFR_uc003tqi.2_Missense_Mutation_p.A289D|EGFR_uc003tqj.2_Missense_Mutation_p.A289D|EGFR_uc010kzg.1_Missense_Mutation_p.A244D|EGFR_uc011kco.1_Missense_Mutation_p.A236D|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 289 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) AGCTTTGGTGCCACCTGCGTG 0.592 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) LRWD1 222229 broad.mit.edu 37 7 102106371 102106371 + Missense_Mutation SNP C T T TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr7:102106371C>T uc003uzn.2 + 2 326 c.188C>T c.(187-189)CCG>CTG p.P63L ALKBH4_uc003uzl.2_5'Flank|ALKBH4_uc003uzm.2_5'Flank|LRWD1_uc003uzo.2_5'UTR NM_152892 NP_690852 Q9UFC0 LRWD1_HUMAN leucine-rich repeats and WD repeat domain 63 LRR 2. chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin chromatin binding|methyl-CpG binding|methylated histone residue binding skin(1) 1 GAGACGCTGCCGGACAACCTG 0.622 CHRM2 1129 broad.mit.edu 37 7 136700738 136700738 + Missense_Mutation SNP A G G TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr7:136700738A>G uc003vtf.1 + 4 1749 c.1126A>G c.(1126-1128)AAG>GAG p.K376E CHRM2_uc003vtg.1_Missense_Mutation_p.K376E|CHRM2_uc003vtj.1_Missense_Mutation_p.K376E|CHRM2_uc003vtk.1_Missense_Mutation_p.K376E|CHRM2_uc003vtl.1_Missense_Mutation_p.K376E|CHRM2_uc003vtm.1_Missense_Mutation_p.K376E|CHRM2_uc003vti.1_Missense_Mutation_p.K376E|CHRM2_uc003vto.1_Missense_Mutation_p.K376E|CHRM2_uc003vtn.1_Missense_Mutation_p.K376E|uc003vtp.1_Intron NM_001006630 NP_001006631 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 376 Cytoplasmic (By similarity). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding ovary(4)|central_nervous_system(1) 5 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) TGCAAAAAAGAAGCCTCCTCC 0.478 SFRP1 6422 broad.mit.edu 37 8 41166547 41166547 + Silent SNP G T T TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr8:41166547G>T uc003xnt.2 - 1 434 c.132C>A c.(130-132)GGC>GGA p.G44G NM_003012 NP_003003 Q8N474 SFRP1_HUMAN secreted frizzled-related protein 1 precursor 44 brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1) 1 Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211) all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559) BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174) TCTGGTACGGGCCGATGTCCG 0.687 RP1 6101 broad.mit.edu 37 8 55541829 55541829 + Missense_Mutation SNP C T T TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr8:55541829C>T uc003xsd.1 + 4 5535 c.5387C>T c.(5386-5388)ACG>ATG p.T1796M RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1796 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding p.T1796T(1) skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CCAGGCCCAACGATGGATGAA 0.448 DOCK8 81704 broad.mit.edu 37 9 286571 286571 + Silent SNP C T T TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr9:286571C>T uc003zgf.2 + 3 379 c.267C>T c.(265-267)GAC>GAT p.D89D DOCK8_uc011lls.1_Silent_p.D89D|DOCK8_uc010mgu.2_Translation_Start_Site|DOCK8_uc010mgv.2_Silent_p.D21D|DOCK8_uc010mgt.2_Silent_p.D21D|DOCK8_uc003zgg.2_Silent_p.D21D|DOCK8_uc003zgh.2_RNA NM_203447 NP_982272 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 89 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3) 6 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) TCACTGATGACGACTTGGACG 0.507 TMEM215 401498 broad.mit.edu 37 9 32784414 32784414 + Missense_Mutation SNP G A A TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr9:32784414G>A uc003zri.3 + 2 598 c.233G>A c.(232-234)CGC>CAC p.R78H NM_212558 NP_997723 Q68D42 TM215_HUMAN transmembrane protein 215 78 integral to membrane 0 CTGTGGGTCCGCAAATTGCCC 0.597 TDRD7 23424 broad.mit.edu 37 9 100227272 100227272 + Silent SNP C A A TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr9:100227272C>A uc004axj.2 + 8 1816 c.1591C>A c.(1591-1593)CGG>AGG p.R531R TDRD7_uc011lux.1_Silent_p.R457R NM_014290 NP_055105 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 531 Tudor 1. lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(62;0.158) CGCCTGGTTACGGGCACAGGT 0.423 TGFBR1 7046 broad.mit.edu 37 9 101900167 101900167 + Missense_Mutation SNP A G G TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chr9:101900167A>G uc004azc.2 + 4 677 c.601A>G c.(601-603)ATT>GTT p.I201V TGFBR1_uc004azd.2_Missense_Mutation_p.I124V|TGFBR1_uc011lvc.1_Missense_Mutation_p.I132V NM_004612 NP_004603 P36897 TGFR1_HUMAN transforming growth factor, beta receptor I 201 Cytoplasmic (Potential).|GS. activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(62;0.0559) TCAGAGAACAATTGCGAGAAC 0.358 PRPS2 5634 broad.mit.edu 37 X 12828240 12828240 + Missense_Mutation SNP T A A TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chrX:12828240T>A uc004cvb.2 + 4 629 c.505T>A c.(505-507)TCA>ACA p.S169T PRPS2_uc004cva.2_Missense_Mutation_p.S172T|PRPS2_uc010nec.2_Missense_Mutation_p.S105T NM_002765 NP_002756 P11908 PRPS2_HUMAN phosphoribosyl pyrophosphate synthetase 2 169 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity 0 TATCATTGTTTCACCTGACGC 0.463 Unknown 0 broad.mit.edu 37 X 48164232 48164232 + Missense_Mutation SNP T C C TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chrX:48164232T>C uc010nib.1 - 2 138 c.51A>G c.(49-51)ATA>ATG p.I17M NM_174962 NP_777622 synovial sarcoma, X breakpoint 9 TCTTCTCTGGTATTTGAGAAC 0.557 MSN 4478 broad.mit.edu 37 X 64949532 64949532 + Missense_Mutation SNP A G G TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chrX:64949532A>G uc004dwf.2 + 4 623 c.425A>G c.(424-426)CAT>CGT p.H142R NM_002444 NP_002435 P26038 MOES_HUMAN moesin 142 FERM. leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton MSN/ALK(6) haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1) 10 AAGGAAGTGCATAAGTCTGGC 0.562 T ALK ALCL HEPH 9843 broad.mit.edu 37 X 65486458 65486458 + Missense_Mutation SNP C T T TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chrX:65486458C>T uc011moz.1 + 21 3490 c.3430C>T c.(3430-3432)CGC>TGC p.R1144C HEPH_uc004dwn.2_Missense_Mutation_p.R1143C|HEPH_uc004dwo.2_Missense_Mutation_p.R874C|HEPH_uc010nkr.2_Missense_Mutation_p.R952C|HEPH_uc011mpa.1_Missense_Mutation_p.R1144C NM_138737 NP_620074 Q9BQS7 HEPH_HUMAN hephaestin isoform a 1141 Cytoplasmic (Potential). cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity lung(5)|ovary(4) 9 AAAGCTACGACGCAATAGGAG 0.498 DCAF12L2 340578 broad.mit.edu 37 X 125299891 125299891 + Missense_Mutation SNP G T T TCGA-02-2485-01A-01D-1494-08 TCGA-02-2485-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0332b017-17d5-4083-8fc4-9d6f8fdbbbde 8faa4b6d-6c64-4c03-bb3d-e2d33db491b0 g.chrX:125299891G>T uc004euk.1 - 1 44 c.17C>A c.(16-18)ACA>AAA p.T6K NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 6 lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 CCTGCTACCTGTTTGCTGCTG 0.512