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 23208926 23208926 + Missense_Mutation SNP G A A TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr1:23208926G>A uc009vqj.1 + 6 1523 c.1378G>A c.(1378-1380)GAC>AAC p.D460N EPHB2_uc001bge.2_Missense_Mutation_p.D460N|EPHB2_uc001bgf.2_Missense_Mutation_p.D460N|EPHB2_uc010odu.1_Missense_Mutation_p.D460N NM_017449 NP_059145 P29323 EPHB2_HUMAN ephrin receptor EphB2 isoform 1 precursor 460 Fibronectin type-III 2.|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) GTCCCAGCCGGACCAGCCCAA 0.607 Hereditary_Prostate_Cancer AMPD2 271 broad.mit.edu 37 1 110171969 110171969 + Silent SNP G A A TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr1:110171969G>A uc009wfh.1 + 15 2423 c.1881G>A c.(1879-1881)GTG>GTA p.V627V AMPD2_uc009wfg.1_RNA|AMPD2_uc001dyb.1_Silent_p.V546V|AMPD2_uc001dyc.1_Silent_p.V627V|AMPD2_uc010ovr.1_Silent_p.V552V|AMPD2_uc001dyd.1_Silent_p.V508V|AMPD2_uc001dye.1_5'UTR NM_004037 NP_004028 Q01433 AMPD2_HUMAN adenosine monophosphate deaminase 2 (isoform L) 627 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding ovary(2)|breast(1) 3 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228) TTGACAGCGTGGATGATGAGT 0.587 COPA 1314 broad.mit.edu 37 1 160268961 160268961 + Silent SNP G A A TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr1:160268961G>A uc009wti.2 - 18 2155 c.1761C>T c.(1759-1761)CCC>CCT p.P587P COPA_uc001fvv.3_Silent_p.P596P NM_004371 NP_004362 P53621 COPA_HUMAN coatomer protein complex, subunit alpha isoform 587 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity ovary(1)|skin(1) 2 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGAGTACCCGGGGACGACACT 0.463 EPHX1 2052 broad.mit.edu 37 1 226027691 226027691 + Missense_Mutation SNP G A A TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr1:226027691G>A uc001hpk.2 + 6 964 c.884G>A c.(883-885)AGG>AAG p.R295K EPHX1_uc001hpl.2_Missense_Mutation_p.R295K NM_001136018 NP_001129490 P07099 HYEP_HUMAN epoxide hydrolase 1 295 aromatic compound catabolic process|response to toxin endoplasmic reticulum membrane|integral to membrane|microsome cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity ovary(3)|lung(1) 4 Breast(184;0.197) AGCCTGATGAGGGAGAGCGGC 0.607 LRRC18 474354 broad.mit.edu 37 10 50121549 50121549 + Missense_Mutation SNP G A A TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr10:50121549G>A uc001jhd.2 - 1 732 c.652C>T c.(652-654)CGG>TGG p.R218W WDFY4_uc001jha.3_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.R218W NM_001006939 NP_001006940 Q8N456 LRC18_HUMAN leucine rich repeat containing 18 218 cytoplasm ovary(1)|pancreas(1) 2 AGGTTGTCCCGGGCGTTTTGG 0.498 OR56B1 387748 broad.mit.edu 37 11 5758585 5758585 + Missense_Mutation SNP T C C TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr11:5758585T>C uc001mbt.1 + 1 839 c.839T>C c.(838-840)ATT>ACT p.I280T TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001005180 NP_001005180 Q8NGI3 O56B1_HUMAN olfactory receptor, family 56, subfamily B, 280 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184) GCTACTTTGATTCCAGTTCTA 0.428 TRPC6 7225 broad.mit.edu 37 11 101323720 101323720 + Missense_Mutation SNP G A A TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr11:101323720G>A uc001pgk.3 - 13 3187 c.2762C>T c.(2761-2763)TCC>TTC p.S921F TRPC6_uc009ywy.2_Missense_Mutation_p.S805F NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, 921 Cytoplasmic (Potential). axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) TGGTTCCATGGATAATTTCTC 0.348 ITGA5 3678 broad.mit.edu 37 12 54793512 54793512 + Missense_Mutation SNP G A A TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr12:54793512G>A uc001sga.2 - 27 2826 c.2758C>T c.(2758-2760)CGC>TGC p.R920C NM_002205 NP_002196 P08648 ITA5_HUMAN integrin alpha 5 precursor 920 Extracellular (Potential). angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding ovary(2) 2 AGCTCACAGCGCAGCCTGAAA 0.552 OREG0021897 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) OR4K13 390433 broad.mit.edu 37 14 20502539 20502539 + Missense_Mutation SNP A G G TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr14:20502539A>G uc010tkz.1 - 1 379 c.379T>C c.(379-381)TGC>CGC p.C127R NM_001004714 NP_001004714 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, 127 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) AGGGGTTTGCATATGGCAACA 0.478 NID2 22795 broad.mit.edu 37 14 52535489 52535489 + Missense_Mutation SNP A G G TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr14:52535489A>G uc001wzo.2 - 1 458 c.224T>C c.(223-225)CTC>CCC p.L75P NID2_uc010tqs.1_Missense_Mutation_p.L75P|NID2_uc010tqt.1_Missense_Mutation_p.L75P|NID2_uc001wzp.2_Missense_Mutation_p.L75P NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 75 basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) ACTTACGTAGAGGTTGCTGAA 0.612 OTX2 5015 broad.mit.edu 37 14 57269073 57269073 + Missense_Mutation SNP C T T TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr14:57269073C>T uc001xcp.2 - 3 421 c.250G>A c.(250-252)GTA>ATA p.V84I OTX2_uc010aou.2_Missense_Mutation_p.V84I|OTX2_uc001xcq.2_Missense_Mutation_p.V92I NM_172337 NP_758840 P32243 OTX2_HUMAN orthodenticle homeobox 2 isoform b 84 Homeobox. axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway growth cone|nucleus|protein complex eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding ovary(1) 1 Medulloblastoma(1;0.00184)|all_neural(1;0.00414) TTAAACCATACCTTGGAAGGG 0.418 TMEM229B 161145 broad.mit.edu 37 14 67940183 67940183 + Missense_Mutation SNP G A A TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr14:67940183G>A uc001xjk.2 - 3 868 c.458C>T c.(457-459)CCC>CTC p.P153L TMEM229B_uc001xjj.1_RNA NM_182526 NP_872332 Q8NBD8 T229B_HUMAN transmembrane protein 229B 153 Cytoplasmic (Potential). integral to membrane central_nervous_system(1) 1 GGCGCCGCTGGGCTCCCCGGG 0.647 KLC1 3831 broad.mit.edu 37 14 104135871 104135871 + Missense_Mutation SNP C A A TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr14:104135871C>A uc001yno.2 + 6 1129 c.821C>A c.(820-822)GCA>GAA p.A274E KLC1_uc010tyd.1_Missense_Mutation_p.A433E|KLC1_uc010tye.1_Missense_Mutation_p.A270E|KLC1_uc001ynm.1_Missense_Mutation_p.A274E|KLC1_uc001ynn.1_Missense_Mutation_p.A268E|KLC1_uc010tyf.1_Missense_Mutation_p.A274E NM_182923 NP_891553 Q07866 KLC1_HUMAN kinesin light chain 1 isoform 2 274 TPR 2. blood coagulation|microtubule-based movement|stress granule disassembly cytosol|kinesin complex|microtubule microtubule motor activity|protein binding 0 Melanoma(154;0.155)|all_epithelial(191;0.19) TACAAAGATGCAGCTAACCTA 0.303 HDC 3067 broad.mit.edu 37 15 50534668 50534668 + Missense_Mutation SNP C A A TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr15:50534668C>A uc001zxz.2 - 12 1884 c.1778G>T c.(1777-1779)AGT>ATT p.S593I HDC_uc001zxy.2_Missense_Mutation_p.S336I|HDC_uc010uff.1_Missense_Mutation_p.S560I NM_002112 NP_002103 P19113 DCHS_HUMAN histidine decarboxylase 593 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) CTTCTGAGCACTCACTGGCAC 0.532 MESP2 145873 broad.mit.edu 37 15 90321328 90321328 + Silent SNP G A A TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr15:90321328G>A uc002bon.2 + 2 957 c.957G>A c.(955-957)TCG>TCA p.S319S MESP2_uc010uqa.1_Silent_p.S21S NM_001039958 NP_001035047 Q0VG99 MESP2_HUMAN mesoderm posterior 2 homolog 319 Notch signaling pathway nucleus DNA binding 0 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) CCTGTCTGTCGCTGGGAGCTC 0.597 AP3S2 10239 broad.mit.edu 37 15 90451602 90451602 + Missense_Mutation SNP G A A TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr15:90451602G>A uc002bos.3 - 3 366 c.211C>T c.(211-213)CGC>TGC p.R71C C15orf38_uc002bot.1_RNA|C15orf38_uc002bou.2_Missense_Mutation_p.R71C NM_182616 NP_872422 P59780 AP3S2_HUMAN hypothetical protein LOC348110 Error:Variant_position_missing_in_P59780_after_alignment intracellular protein transport|vesicle-mediated transport cytoplasmic vesicle membrane|Golgi apparatus|membrane coat protein transporter activity 0 Lung NSC(78;0.0181)|all_lung(78;0.0384) BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223) AATTTACGGCGATGGATGTGA 0.567 PLCG2 5336 broad.mit.edu 37 16 81944227 81944227 + Silent SNP C T T TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr16:81944227C>T uc002fgt.2 + 18 1988 c.1836C>T c.(1834-1836)GCC>GCT p.A612A PLCG2_uc010chg.1_Silent_p.A612A NM_002661 NP_002652 P16885 PLCG2_HUMAN phospholipase C, gamma 2 612 SH2 1. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity large_intestine(4)|lung(2)|ovary(1)|skin(1) 8 GCATCTATGCCCTCATCCAGC 0.642 DNAH2 146754 broad.mit.edu 37 17 7668816 7668816 + Silent SNP C T T TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr17:7668816C>T uc002giu.1 + 20 3458 c.3444C>T c.(3442-3444)GGC>GGT p.G1148G NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 1148 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) TCAAGACAGGCCTGATCCACT 0.463 MYH4 4622 broad.mit.edu 37 17 10352234 10352234 + Nonsense_Mutation SNP G A A TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr17:10352234G>A uc002gmn.2 - 31 4423 c.4312C>T c.(4312-4314)CGA>TGA p.R1438* uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 1438 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 GCATTAGATCGTTCCACATCA 0.438 DDX5 1655 broad.mit.edu 37 17 62500099 62500102 + Splice_Site DEL ACAG - - TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr17:62500099_62500102delACAG uc002jek.2 - 4 688 c.441_splice c.e4+1 p.S147_splice DDX5_uc010deh.2_Splice_Site_p.S147_splice|DDX5_uc002jej.2_Splice_Site_p.S42_splice|DDX5_uc010wqa.1_Intron|DDX5_uc002jel.1_5'Flank NM_004396 NP_004387 P17844 DDX5_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity ovary(2)|lung(1) 3 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;8.6e-12) TCCCAAACTTACAGACAATGTTTT 0.397 T ETV4 prostate POTEC 388468 broad.mit.edu 37 18 14513675 14513675 + Missense_Mutation SNP T C C TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr18:14513675T>C uc010dln.2 - 10 1973 c.1519A>G c.(1519-1521)AAA>GAA p.K507E POTEC_uc010xaj.1_RNA NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN ANKRD26-like family B, member 2 507 Potential. skin(3) 3 GAATTCATTTTCTTTTCAGCC 0.284 CPAMD8 27151 broad.mit.edu 37 19 17122460 17122460 + Silent SNP G T T TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr19:17122460G>T uc002nfb.2 - 4 548 c.516C>A c.(514-516)GGC>GGA p.G172G NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain 125 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 AAGCGCCCCGGCCGTCCACGG 0.672 ZNF626 199777 broad.mit.edu 37 19 20807475 20807475 + Missense_Mutation SNP C G G TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr19:20807475C>G uc002npb.1 - 4 1358 c.1208G>C c.(1207-1209)GGC>GCC p.G403A ZNF626_uc002npc.1_Missense_Mutation_p.G327A NM_001076675 NP_001070143 Q68DY1 ZN626_HUMAN zinc finger protein 626 isoform 1 403 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 AAAAGCTTTGCCACATTCTTC 0.398 PRODH2 58510 broad.mit.edu 37 19 36303630 36303630 + Silent SNP G A A TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr19:36303630G>A uc002obx.1 - 2 324 c.306C>T c.(304-306)GGC>GGT p.G102G NM_021232 NP_067055 Q9UF12 PROD2_HUMAN kidney and liver proline oxidase 1 102 glutamate biosynthetic process|proline catabolic process proline dehydrogenase activity ovary(2) 2 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GGAAGGCCCCGCCATCAAAGC 0.652 PSG1 5669 broad.mit.edu 37 19 43376102 43376102 + Missense_Mutation SNP C T T TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr19:43376102C>T uc002ovb.2 - 3 664 c.526G>A c.(526-528)GCA>ACA p.A176T PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.A176T|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Missense_Mutation_p.A176T|PSG1_uc010eio.1_Missense_Mutation_p.A176T|PSG1_uc002oux.1_Missense_Mutation_p.A105T|PSG1_uc002ouy.1_Missense_Mutation_p.A176T|PSG1_uc002ouz.1_Missense_Mutation_p.A176T|PSG1_uc002ova.1_Intron|PSG1_uc002ovc.2_Intron|PSG1_uc002ovd.1_Missense_Mutation_p.A176T NM_006905 NP_008836 P11464 PSG1_HUMAN pregnancy specific beta-1-glycoprotein 1 176 Ig-like C2-type 1. female pregnancy extracellular region ovary(2) 2 Prostate(69;0.00682) AGGTAGCTTGCGTCTGGAGTC 0.527 ZNF8 7554 broad.mit.edu 37 19 58806753 58806753 + Missense_Mutation SNP G A A TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr19:58806753G>A uc002qry.1 + 4 1709 c.1579G>A c.(1579-1581)GGA>AGA p.G527R ZNF8_uc002qrz.2_RNA NM_021089 NP_066575 P17098 ZNF8_HUMAN zinc finger protein 8 527 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619) CTCTGCAGGCGGAGCAAAGGC 0.557 BIRC6 57448 broad.mit.edu 37 2 32740406 32740406 + Missense_Mutation SNP G A A rs112352145 TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr2:32740406G>A uc010ezu.2 + 55 11052 c.10918G>A c.(10918-10920)GCT>ACT p.A3640T NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 3640 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) GAGGAGTCTGGCTAGTTTCTG 0.438 RGPD4 285190 broad.mit.edu 37 2 108476261 108476261 + Missense_Mutation SNP C T T TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr2:108476261C>T uc010ywk.1 + 12 1800 c.1718C>T c.(1717-1719)CCT>CTT p.P573L RGPD4_uc002tdu.2_5'UTR|RGPD4_uc010ywl.1_RNA NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 573 intracellular transport binding skin(2) 2 GGCCTTCAACCTGCTCTGCTT 0.328 GCC2 9648 broad.mit.edu 37 2 109103046 109103046 + Missense_Mutation SNP C T T TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr2:109103046C>T uc002tec.2 + 16 4026 c.3872C>T c.(3871-3873)ACG>ATG p.T1291M GCC2_uc002ted.2_Missense_Mutation_p.T1190M NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain-containing 2 1291 Potential. Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding ovary(1) 1 CACCAGCGTACGCTAAGTGCA 0.502 ITGA4 3676 broad.mit.edu 37 2 182386969 182386969 + Missense_Mutation SNP G A A TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr2:182386969G>A uc002unu.2 + 18 2737 c.1974G>A c.(1972-1974)ATG>ATA p.M658I ITGA4_uc010frj.1_Missense_Mutation_p.M140I|ITGA4_uc002unv.2_5'UTR NM_000885 NP_000876 P13612 ITA4_HUMAN integrin alpha 4 precursor 658 Extracellular (Potential). blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) AGACATTGATGTTGAATGTGT 0.333 VIL1 7429 broad.mit.edu 37 2 219301876 219301876 + Silent SNP C T T TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr2:219301876C>T uc002via.2 + 17 2066 c.2001C>T c.(1999-2001)AAC>AAT p.N667N VIL1_uc010zke.1_Silent_p.N356N|VIL1_uc002vib.2_Silent_p.N667N NM_007127 NP_009058 P09327 VILI_HUMAN villin 1 667 Gelsolin-like 6.|Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity ovary(1) 1 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AACATGCCAACGAGGAGGAGA 0.572 PAX3 5077 broad.mit.edu 37 2 223084911 223084911 + Missense_Mutation SNP G A A rs45607236 TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr2:223084911G>A uc010fwo.2 - 7 1487 c.1121C>T c.(1120-1122)TCG>TTG p.S374L PAX3_uc002vmt.1_Missense_Mutation_p.S374L|PAX3_uc002vmy.1_Missense_Mutation_p.S373L|PAX3_uc002vmv.1_Missense_Mutation_p.S374L|PAX3_uc002vmw.1_Missense_Mutation_p.S374L|PAX3_uc002vmx.1_Missense_Mutation_p.S374L NM_181457 NP_852122 P23760 PAX3_HUMAN paired box 3 isoform PAX3 374 apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4) soft_tissue(761)|ovary(4)|skin(1) 766 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGAGGGCCCCGACGGAGGCAC 0.552 T FOXO1A|NCOA1 alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome C2orf57 165100 broad.mit.edu 37 2 232457869 232457869 + Silent SNP C T T TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr2:232457869C>T uc002vrz.2 + 1 258 c.207C>T c.(205-207)GAC>GAT p.D69D NM_152614 NP_689827 Q53QW1 CB057_HUMAN hypothetical protein LOC165100 69 ovary(1) 1 Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014) GAGACAAAGACAAGAGTGCAG 0.532 FRG1B 284802 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T C C TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr20:29628243T>C uc010ztl.1 + 3 187 c.155T>C c.(154-156)TTG>TCG p.L52S FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Missense_Mutation_p.L4S Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA. 0 ATGGCTTTGTTGGCCTCAAAT 0.353 FRG1B 284802 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G A A TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr20:29628245G>A uc010ztl.1 + 3 189 c.157G>A c.(157-159)GCC>ACC p.A53T FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Missense_Mutation_p.A5T Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA. 0 GGCTTTGTTGGCCTCAAATAG 0.353 GTSF1L 149699 broad.mit.edu 37 20 42355070 42355070 + Missense_Mutation SNP C T T rs143516837 byFrequency TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr20:42355070C>T uc002xld.2 - 1 573 c.265G>A c.(265-267)GAT>AAT p.D89N GTSF1L_uc002xlc.2_Missense_Mutation_p.D89N NM_176791 NP_789761 Q9H1H1 GTSFL_HUMAN gametocyte specific factor 1-like isoform 1 89 metal ion binding 0 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) TGGGTGTCATCGTTCTGCTCT 0.517 SPINLW1 57119 broad.mit.edu 37 20 44171338 44171338 + Splice_Site SNP C T T TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr20:44171338C>T uc002xou.2 - 3 423 c.391_splice c.e3+1 p.R131_splice SPINLW1_uc010zxc.1_Splice_Site_p.Q131_splice|SPINLW1_uc002xot.2_Splice_Site_p.R115_splice|SPINLW1_uc002xov.1_3'UTR NM_020398 NP_065131 O95925 EPPI_HUMAN serine peptidase inhibitor-like, with Kunitz and extracellular region serine-type endopeptidase inhibitor activity pancreas(1) 1 Myeloproliferative disorder(115;0.0122) CTAGGACTTACGTTTATTCTT 0.507 COL6A2 1292 broad.mit.edu 37 21 47537831 47537831 + Missense_Mutation SNP G A A TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr21:47537831G>A uc002zia.1 + 12 1179 c.1097G>A c.(1096-1098)CGA>CAA p.R366Q COL6A2_uc002zhy.1_Missense_Mutation_p.R366Q|COL6A2_uc002zhz.1_Missense_Mutation_p.R366Q|COL6A2_uc002zib.1_Intron NM_001849 NP_001840 P12110 CO6A2_HUMAN alpha 2 type VI collagen isoform 2C2 precursor 366 Triple-helical region.|Cell attachment site (Potential). axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging central_nervous_system(7)|ovary(1) 8 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) CCAGGGGAGCGAGGAGACCAA 0.682 EMID1 129080 broad.mit.edu 37 22 29621149 29621149 + Missense_Mutation SNP C T T TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr22:29621149C>T uc003aen.2 + 4 416 c.341C>T c.(340-342)CCC>CTC p.P114L EMID1_uc003aem.2_Missense_Mutation_p.P116L|EMID1_uc003aeo.2_Missense_Mutation_p.P116L|EMID1_uc003aep.2_Missense_Mutation_p.P116L NM_133455 NP_597712 Q96A84 EMID1_HUMAN EMI domain containing 1 114 collagen 0 TCCTTGGAGCCCATGTGGTCG 0.637 SFI1 9814 broad.mit.edu 37 22 31985517 31985517 + Missense_Mutation SNP C T T TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr22:31985517C>T uc003ale.2 + 15 1891 c.1498C>T c.(1498-1500)CGC>TGC p.R500C SFI1_uc003ald.1_Missense_Mutation_p.R476C|SFI1_uc003alf.2_Missense_Mutation_p.R469C|SFI1_uc003alg.2_Missense_Mutation_p.R418C|SFI1_uc011alp.1_Missense_Mutation_p.R418C|SFI1_uc011alq.1_Missense_Mutation_p.R445C|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_RNA NM_001007467 NP_001007468 A8K8P3 SFI1_HUMAN spindle assembly associated Sfi1 homolog isoform 500 G2/M transition of mitotic cell cycle centriole|cytosol central_nervous_system(1) 1 CTGGCGATGGCGCCACCAGGA 0.532 CCR8 1237 broad.mit.edu 37 3 39374277 39374277 + Missense_Mutation SNP C T T TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr3:39374277C>T uc010hhr.2 + 2 593 c.455C>T c.(454-456)ACG>ATG p.T152M CCR8_uc003cjm.2_Missense_Mutation_p.T69M NM_005201 NP_005192 P51685 CCR8_HUMAN chemokine (C-C motif) receptor 8 152 Helical; Name=4; (Potential). cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane coreceptor activity ovary(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635) ATGGGCACAACGCTGTGCCTG 0.502 CAMKV 79012 broad.mit.edu 37 3 49898275 49898275 + Missense_Mutation SNP T C C TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr3:49898275T>C uc003cxt.1 - 8 842 c.649A>G c.(649-651)AAT>GAT p.N217D CAMKV_uc011bcy.1_Missense_Mutation_p.N142D|CAMKV_uc003cxv.1_Missense_Mutation_p.N189D|CAMKV_uc003cxw.1_Missense_Mutation_p.N49D|CAMKV_uc003cxx.1_Missense_Mutation_p.N49D|CAMKV_uc003cxu.2_Missense_Mutation_p.N217D|CAMKV_uc011bcz.1_Missense_Mutation_p.N180D|CAMKV_uc011bda.1_Missense_Mutation_p.N174D|CAMKV_uc011bdb.1_RNA NM_024046 NP_076951 Q8NCB2 CAMKV_HUMAN CaM kinase-like vesicle-associated 217 Protein kinase. cytoplasmic vesicle membrane|plasma membrane ATP binding|protein serine/threonine kinase activity ovary(2)|lung(2)|large_intestine(2)|central_nervous_system(1) 7 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) AAAGGTGGATTGCCTGAAAGC 0.512 NSUN3 63899 broad.mit.edu 37 3 93813043 93813043 + Missense_Mutation SNP G C C TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr3:93813043G>C uc003drl.1 + 4 642 c.526G>C c.(526-528)GAA>CAA p.E176Q NM_022072 NP_071355 Q9H649 NSUN3_HUMAN NOL1/NOP2/Sun domain family, member 3 176 methyltransferase activity skin(1) 1 GCAGACGTTGGAATCTTTCAT 0.368 RBM47 54502 broad.mit.edu 37 4 40440502 40440502 + Missense_Mutation SNP G A A TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr4:40440502G>A uc003gvc.2 - 4 1119 c.409C>T c.(409-411)CGC>TGC p.R137C RBM47_uc003gvd.2_Missense_Mutation_p.R137C|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.R99C|RBM47_uc003gvg.1_Missense_Mutation_p.R137C NM_001098634 NP_001092104 A0AV96 RBM47_HUMAN RNA binding motif protein 47 isoform a 137 RRM 1. nucleus nucleotide binding|RNA binding breast(3) 3 CGGCCCGGGCGGATCTCGTAG 0.622 KDR 3791 broad.mit.edu 37 4 55955885 55955885 + Missense_Mutation SNP C T T TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr4:55955885C>T uc003has.2 - 24 3579 c.3277G>A c.(3277-3279)GTT>ATT p.V1093I KDR_uc003hat.1_Missense_Mutation_p.V1093I NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 1093 Protein kinase.|Cytoplasmic (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 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) CACAGCAAAACACCAAAAGAC 0.433 Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) BMP2K 55589 broad.mit.edu 37 4 79772148 79772148 + Missense_Mutation SNP G A A TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr4:79772148G>A uc003hlk.2 + 7 987 c.821G>A c.(820-822)TGT>TAT p.C274Y BMP2K_uc010ijl.1_RNA|BMP2K_uc003hlj.2_Missense_Mutation_p.C274Y NM_198892 NP_942595 Q9NSY1 BMP2K_HUMAN BMP-2 inducible kinase isoform a 274 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity lung(1) 1 GTTGCTATCTGTGATGGCAAC 0.363 ENPEP 2028 broad.mit.edu 37 4 111397732 111397732 + Silent SNP G A A TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr4:111397732G>A uc003iab.3 + 1 504 c.162G>A c.(160-162)GCG>GCA p.A54A NM_001977 NP_001968 Q07075 AMPE_HUMAN glutamyl aminopeptidase 54 Extracellular (Potential). cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding skin(3)|ovary(1)|breast(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) CGGGCACTGCGCCAGCTCCTT 0.647 C4orf46 201725 broad.mit.edu 37 4 159590866 159590866 + Missense_Mutation SNP C T T TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr4:159590866C>T uc003iqa.2 - 2 490 c.241G>A c.(241-243)GTG>ATG p.V81M C4orf46_uc010iqp.1_RNA|ETFDH_uc010iqq.2_5'Flank|ETFDH_uc003iqb.2_5'Flank|ETFDH_uc011cjg.1_5'Flank|ETFDH_uc010iqr.2_5'Flank NM_001008393 NP_001008394 Q504U0 CD046_HUMAN hypothetical protein LOC201725 81 skin(1) 1 AGTTCTTCCACTTGAGCTGAT 0.363 HCN1 348980 broad.mit.edu 37 5 45695840 45695840 + Missense_Mutation SNP G A A TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr5:45695840G>A uc003jok.2 - 1 381 c.356C>T c.(355-357)GCG>GTG p.A119V NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 119 Involved in subunit assembly (By similarity).|Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 CTTTTCCACCGCCTTCTGGCT 0.602 TMEM161B 153396 broad.mit.edu 37 5 87516531 87516531 + Missense_Mutation SNP G C C TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr5:87516531G>C uc003kjc.2 - 5 420 c.295C>G c.(295-297)CAT>GAT p.H99D TMEM161B_uc011cty.1_Missense_Mutation_p.H88D|TMEM161B_uc010jax.2_RNA|TMEM161B_uc011ctz.1_5'UTR|TMEM161B_uc011ctx.1_5'UTR NM_153354 NP_699185 Q8NDZ6 T161B_HUMAN transmembrane protein 161B 99 integral to membrane skin(2) 2 all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26) GGAAAGTAATGCAATGCTGGa 0.294 BRD8 10902 broad.mit.edu 37 5 137485483 137485483 + Missense_Mutation SNP C T T TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr5:137485483C>T uc003lcf.1 - 23 3179 c.3124G>A c.(3124-3126)GAG>AAG p.E1042K BRD8_uc003lcc.1_Intron NM_139199 NP_631938 Q9H0E9 BRD8_HUMAN bromodomain containing 8 isoform 2 1042 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TGCTGAGCCTCCCCCTAGGAA 0.458 PCDHB14 56122 broad.mit.edu 37 5 140605384 140605384 + Silent SNP G A A rs147177582 TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr5:140605384G>A uc003ljb.2 + 1 2307 c.2307G>A c.(2305-2307)CCG>CCA p.P769P PCDHB14_uc011dal.1_Silent_p.P616P NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN protocadherin beta 14 precursor 769 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCTGAAGCCGATTATCCCCA 0.448 ARAP3 64411 broad.mit.edu 37 5 141035273 141035273 + Missense_Mutation SNP G A A TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr5:141035273G>A uc003llm.2 - 31 4103 c.4025C>T c.(4024-4026)GCC>GTC p.A1342V ARAP3_uc003lll.2_Missense_Mutation_p.A293V|ARAP3_uc011dbe.1_Missense_Mutation_p.A1004V|ARAP3_uc003lln.2_Missense_Mutation_p.A1173V NM_022481 NP_071926 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 1342 cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding breast(5)|ovary(1)|large_intestine(1) 7 CTTCTGACGGGCAAGGTCAGA 0.592 EGFR 1956 broad.mit.edu 37 7 55221822 55221822 + Missense_Mutation SNP C T T rs149840192 TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr7:55221822C>T uc003tqk.2 + 7 1112 c.866C>T c.(865-867)GCC>GTC p.A289V EGFR_uc003tqh.2_Missense_Mutation_p.A289V|EGFR_uc003tqi.2_Missense_Mutation_p.A289V|EGFR_uc003tqj.2_Missense_Mutation_p.A289V|EGFR_uc010kzg.1_Missense_Mutation_p.A244V|EGFR_uc011kco.1_Missense_Mutation_p.A236V|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) TM7SF4 81501 broad.mit.edu 37 8 105361477 105361477 + Nonsense_Mutation SNP C T T TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr8:105361477C>T uc003ylx.1 + 2 746 c.697C>T c.(697-699)CGA>TGA p.R233* NM_030788 NP_110415 Q9H295 TM7S4_HUMAN dendritic cell-specific transmembrane protein 233 osteoclast differentiation cell surface|integral to membrane|plasma membrane pancreas(2)|large_intestine(1)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CTTCATGAAGCGATTTTTGGG 0.498 TG 7038 broad.mit.edu 37 8 134144071 134144071 + Silent SNP G A A TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr8:134144071G>A uc003ytw.2 + 46 7919 c.7878G>A c.(7876-7878)GCG>GCA p.A2626A TG_uc010mdw.2_Silent_p.A1385A|TG_uc011ljb.1_Silent_p.A995A|TG_uc011ljc.1_Silent_p.A759A NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 2626 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) AGCTGCTGGCGGATGTTCAGT 0.458 DNAI1 27019 broad.mit.edu 37 9 34489407 34489407 + Missense_Mutation SNP T A A TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr9:34489407T>A uc003zum.2 + 5 541 c.348T>A c.(346-348)GAT>GAA p.D116E NM_012144 NP_036276 Q9UI46 DNAI1_HUMAN dynein, axonemal, intermediate chain 1 116 cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity 0 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) AAGACTCAGATGAAGGACGGC 0.527 Kartagener_syndrome ZNF462 58499 broad.mit.edu 37 9 109688130 109688130 + Missense_Mutation SNP A C C TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chr9:109688130A>C uc004bcz.2 + 3 2226 c.1937A>C c.(1936-1938)GAC>GCC p.D646A ZNF462_uc010mto.2_Missense_Mutation_p.D494A|ZNF462_uc004bda.2_Missense_Mutation_p.D494A NM_021224 NP_067047 Q96JM2 ZN462_HUMAN zinc finger protein 462 646 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 AATGAGACAGACAGCCACCCC 0.463 MTMR8 55613 broad.mit.edu 37 X 63569901 63569901 + Missense_Mutation SNP A C C TCGA-06-0142-01A-01D-1490-08 TCGA-06-0142-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 4bce79ce-c59c-4d86-b25f-28c8edda1651 6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2 g.chrX:63569901A>C uc004dvs.2 - 5 586 c.518T>G c.(517-519)TTG>TGG p.L173W MTMR8_uc011mou.1_Missense_Mutation_p.L173W|MTMR8_uc004dvt.1_Missense_Mutation_p.L173W NM_017677 NP_060147 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 173 Myotubularin phosphatase. nuclear envelope protein tyrosine phosphatase activity ovary(2)|breast(2) 4 CACCGTTCCCAAGGTAACAGA 0.343