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 PADI6 353238 broad.mit.edu 37 1 17699701 17699701 + Silent SNP G A A TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr1:17699701G>A uc001bak.1 + 2 267 c.267G>A c.(265-267)TCG>TCA p.S89S NM_207421 NP_997304 Q6TGC4 PADI6_HUMAN peptidylarginine deiminase type 6 81 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) AGATGACATCGCCCAGCCCTT 0.602 NOTCH2 4853 broad.mit.edu 37 1 120539904 120539904 + Frame_Shift_Del DEL C - - TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr1:120539904delC uc001eik.2 - 4 723 c.467delG c.(466-468)GGAfs p.G156fs NOTCH2_uc001eil.2_Frame_Shift_Del_p.G156fs|NOTCH2_uc001eim.3_Frame_Shift_Del_p.G73fs NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 156 Extracellular (Potential).|EGF-like 4. anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAGGTACTTCCATTTGCACA 0.488 N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome HRNR 388697 broad.mit.edu 37 1 152193158 152193158 + Missense_Mutation SNP G A A TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr1:152193158G>A uc001ezt.1 - 3 1023 c.947C>T c.(946-948)TCG>TTG p.S316L NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 316 3. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGAGTGCCCCGAACCGGACCC 0.607 IVL 3713 broad.mit.edu 37 1 152883944 152883944 + Silent SNP A C C TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr1:152883944A>C uc001fau.2 + 2 1717 c.1671A>C c.(1669-1671)CCA>CCC p.P557P NM_005547 NP_005538 P07476 INVO_HUMAN involucrin 557 isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity ovary(3) 3 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) ACATTCAACCAGCCCTGCCCA 0.398 OR2T3 343173 broad.mit.edu 37 1 248636836 248636836 + Frame_Shift_Del DEL C - - TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr1:248636836delC uc001iel.1 + 1 185 c.185delC c.(184-186)ACCfs p.T62fs NM_001005495 NP_001005495 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, 62 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CGCCTCCACACCCCCATGTAC 0.567 OR2T34 127068 broad.mit.edu 37 1 248737870 248737870 + Frame_Shift_Del DEL G - - TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr1:248737870delG uc001iep.1 - 1 189 c.189delC c.(187-189)CCCfs p.P63fs NM_001001821 NP_001001821 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, 63 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AGAAGTACATGGGGGTGTGGA 0.562 OR14I1 401994 broad.mit.edu 37 1 248845184 248845184 + Missense_Mutation SNP T C C TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr1:248845184T>C uc001ieu.1 - 1 422 c.422A>G c.(421-423)CAG>CGG p.Q141R NM_001004734 NP_001004734 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, 141 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GACTGCCATCTGATAGCACCC 0.542 MS4A3 932 broad.mit.edu 37 11 59828736 59828736 + Missense_Mutation SNP C A A TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr11:59828736C>A uc001nom.2 + 2 231 c.103C>A c.(103-105)CAG>AAG p.Q35K MS4A3_uc001non.2_Missense_Mutation_p.Q35K|MS4A3_uc001noo.2_Intron NM_006138 NP_006129 Q96HJ5 MS4A3_HUMAN membrane-spanning 4-domains, subfamily A, member 35 Cytoplasmic (Potential). Q -> H (in Ref. 1; AAA62319). endomembrane system|integral to membrane|perinuclear region of cytoplasm protein binding|receptor activity ovary(2)|skin(1) 3 all_epithelial(135;0.245) TTCTGTCTACCAGCCCATAGA 0.473 SLC22A6 9356 broad.mit.edu 37 11 62749352 62749352 + Silent SNP C A A TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr11:62749352C>A uc001nwk.2 - 4 1066 c.759G>T c.(757-759)CTG>CTT p.L253L SLC22A6_uc001nwl.2_Silent_p.L253L|SLC22A6_uc001nwj.2_Silent_p.L253L|SLC22A6_uc001nwm.2_Silent_p.L253L NM_004790 NP_004781 Q4U2R8 S22A6_HUMAN solute carrier family 22 member 6 isoform a 253 Helical; (Potential). alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding 0 GCGCAGAGACCAGTAGCTGCA 0.617 MAP3K11 4296 broad.mit.edu 37 11 65381159 65381159 + Silent SNP A C C TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr11:65381159A>C uc001oew.2 - 1 562 c.69T>G c.(67-69)GGT>GGG p.G23G MAP3K11_uc010rol.1_5'Flank|PCNXL3_uc001oey.2_5'Flank NM_002419 NP_002410 Q16584 M3K11_HUMAN mitogen-activated protein kinase kinase kinase 23 Gly-rich.|Poly-Gly. activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation centrosome|microtubule ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity breast(3)|lung(1)|central_nervous_system(1)|skin(1) 6 CGCCCCCACCACCCCCGCTGC 0.667 MMP13 4322 broad.mit.edu 37 11 102825250 102825250 + Missense_Mutation SNP G A A TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr11:102825250G>A uc001phl.2 - 3 476 c.448C>T c.(448-450)CCT>TCT p.P150S NM_002427 NP_002418 P45452 MMP13_HUMAN matrix metalloproteinase 13 preproprotein 150 collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) AAATTCAGAGGAGTTACATCG 0.343 GPRC5A 9052 broad.mit.edu 37 12 13061399 13061399 + Silent SNP C T T TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr12:13061399C>T uc001rba.2 + 2 866 c.216C>T c.(214-216)CTC>CTT p.L72L GPRC5A_uc001raz.2_Silent_p.L72L NM_003979 NP_003970 Q8NFJ5 RAI3_HUMAN G protein-coupled receptor, family C, group 5, 72 Helical; Name=2; (Potential). cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane G-protein coupled receptor activity 0 Prostate(47;0.141) BRCA - Breast invasive adenocarcinoma(232;0.0708) Tretinoin(DB00755) TTCTCTTCCTCCTGGGTGTGT 0.557 ATF7IP 55729 broad.mit.edu 37 12 14599967 14599967 + Missense_Mutation SNP G T T TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr12:14599967G>T uc001rbw.2 + 6 2133 c.1975G>T c.(1975-1977)GAT>TAT p.D659Y ATF7IP_uc010shs.1_Missense_Mutation_p.D658Y|ATF7IP_uc001rbu.2_Missense_Mutation_p.D659Y|ATF7IP_uc001rbv.1_Missense_Mutation_p.D658Y|ATF7IP_uc001rbx.2_Missense_Mutation_p.D658Y|ATF7IP_uc010sht.1_Missense_Mutation_p.D659Y|ATF7IP_uc001rby.3_Missense_Mutation_p.D659Y|ATF7IP_uc001rca.2_Missense_Mutation_p.D659Y NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting 659 Interaction with SETDB1.|Potential. DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding lung(3)|ovary(1)|skin(1) 5 AGCCAAAGAAGATCTTAAGAA 0.308 BTBD11 121551 broad.mit.edu 37 12 108012040 108012040 + Silent SNP G A A rs150221761 byFrequency TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr12:108012040G>A uc001tmk.1 + 10 2858 c.2337G>A c.(2335-2337)CCG>CCA p.P779P BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.2_Silent_p.P779P|BTBD11_uc001tml.1_Silent_p.P316P NM_001018072 NP_001018082 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 isoform a 779 integral to membrane DNA binding skin(2)|ovary(1) 3 AGACAGCCCCGCCCCCCTTGT 0.612 SYNE2 23224 broad.mit.edu 37 14 64634098 64634098 + Missense_Mutation SNP C T T TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr14:64634098C>T uc001xgm.2 + 91 16983 c.16753C>T c.(16753-16755)CGC>TGC p.R5585C SYNE2_uc001xgl.2_Missense_Mutation_p.R5585C|SYNE2_uc010apy.2_Missense_Mutation_p.R1970C|SYNE2_uc001xgn.2_Missense_Mutation_p.R547C|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_5'UTR|SYNE2_uc001xgq.2_5'Flank NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 5585 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GGCACTGGAGCGCTGCAGGTT 0.478 CXADRP2 646243 broad.mit.edu 37 15 22016213 22016213 + Silent SNP A C C TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr15:22016213A>C uc010tzk.1 - 1 666 c.504T>G c.(502-504)TCT>TCG p.S168S NR_024387 RecName: Full=Coxsackievirus and adenovirus receptor; AltName: Full=Coxsackievirus B-adenovirus receptor; AltName: Full=HCVADR; Short=hCAR; AltName: Full=CVB3-binding protein; Flags: Precursor; 0 CAGATATAACAGATGAAGTCA 0.413 WDR72 256764 broad.mit.edu 37 15 53889439 53889439 + Silent SNP C T T TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr15:53889439C>T uc002acj.2 - 18 3027 c.2985G>A c.(2983-2985)GCG>GCA p.A995A NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN WD repeat domain 72 995 lung(1)|skin(1) 2 all cancers(107;0.0511) GTTGAACTTCCGCCAAGAGAA 0.378 C16orf53 79447 broad.mit.edu 37 16 29827999 29828009 + Frame_Shift_Del DEL AGGAGGCCGAG - - TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr16:29827999_29828009delAGGAGGCCGAG uc002dug.3 + 1 472_482 c.153_163delAGGAGGCCGAG c.(151-165)GAAGGAGGCCGAGAGfs p.E51fs uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron NM_024516 NP_078792 Q9BTK6 PA1_HUMAN PTIP-associated 1 protein 51_55 Glu-rich. 0 ACGAGGGGGAAGGAGGCCGAGAGGAGACCGA 0.697 OREG0023722 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) FAM65A 79567 broad.mit.edu 37 16 67572596 67572596 + Silent SNP G A A TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr16:67572596G>A uc010vjp.1 + 3 282 c.186G>A c.(184-186)CCG>CCA p.P62P FAM65A_uc010cei.1_5'UTR|FAM65A_uc002eth.2_Silent_p.P42P|FAM65A_uc010cej.2_Silent_p.P45P|FAM65A_uc002eti.1_Intron|FAM65A_uc010vjq.1_Silent_p.P56P|FAM65A_uc002etj.1_Silent_p.P41P|FAM65A_uc002etk.2_Silent_p.P41P NM_024519 NP_078795 Q6ZS17 FA65A_HUMAN hypothetical protein LOC79567 46 cytoplasm binding ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) TCTTCAGCCCGCCGGGGCCCC 0.682 LRRC37B 114659 broad.mit.edu 37 17 30348508 30348508 + Silent SNP T C C TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr17:30348508T>C uc002hgu.2 + 1 354 c.343T>C c.(343-345)TTG>CTG p.L115L LRRC37B_uc010wbx.1_Silent_p.L33L|LRRC37B_uc010csu.2_Silent_p.L115L NM_052888 NP_443120 Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B precursor 115 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) AGAGCCGTTCTTGGCTGCACA 0.547 G6PC3 92579 broad.mit.edu 37 17 42152338 42152338 + Missense_Mutation SNP C A A TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr17:42152338C>A uc002iex.2 + 4 634 c.418C>A c.(418-420)CGC>AGC p.R140S G6PC3_uc002iey.2_Missense_Mutation_p.R15S|G6PC3_uc010czo.2_5'UTR|G6PC3_uc002iez.2_Missense_Mutation_p.R15S|G6PC3_uc002ifb.2_Missense_Mutation_p.R15S|G6PC3_uc002ifc.2_Intron NM_138387 NP_612396 Q9BUM1 G6PC3_HUMAN glucose-6-phosphatase catalytic subunit 3 140 Cytoplasmic (Potential). gluconeogenesis|transmembrane transport endoplasmic reticulum membrane|integral to membrane glucose-6-phosphatase activity skin(1) 1 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.113) TCTTTCTAGCCGCTGGGTAAG 0.542 RALBP1 10928 broad.mit.edu 37 18 9516893 9516893 + Missense_Mutation SNP A G G TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr18:9516893A>G uc002kob.2 + 3 518 c.295A>G c.(295-297)AGT>GGT p.S99G RALBP1_uc002koc.2_Missense_Mutation_p.S99G NM_006788 NP_006779 Q15311 RBP1_HUMAN ralA binding protein 1 99 chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport cytosol|membrane ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding central_nervous_system(1) 1 TGAGGCAGAAAGTCCTTCTAA 0.323 PTPN2 5771 broad.mit.edu 37 18 12794472 12794472 + Frame_Shift_Del DEL T - - TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr18:12794472delT uc002krp.2 - 9 1247 c.1053delA c.(1051-1053)AAAfs p.K351fs PTPN2_uc002krl.2_Frame_Shift_Del_p.K351fs|PTPN2_uc002krn.2_Frame_Shift_Del_p.K374fs|PTPN2_uc002kro.2_Frame_Shift_Del_p.K351fs|PTPN2_uc002krm.2_Intron NM_002828 NP_002819 P17706 PTN2_HUMAN protein tyrosine phosphatase, non-receptor type 351 interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway endoplasmic reticulum|nucleoplasm protein binding skin(2) 2 Lung NSC(161;8.94e-06) CTCGAATACGTTTCCGTAGAG 0.428 GATA6 2627 broad.mit.edu 37 18 19762971 19762971 + Missense_Mutation SNP T A A TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr18:19762971T>A uc002ktt.1 + 6 1852 c.1587T>A c.(1585-1587)AAT>AAA p.N529K GATA6_uc002ktu.1_Missense_Mutation_p.N529K NM_005257 NP_005248 Q92908 GATA6_HUMAN GATA binding protein 6 529 blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(3) 3 all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246) STAD - Stomach adenocarcinoma(5;0.106) GCAGCAAAAATACTTCCCCCA 0.373 CDH2 1000 broad.mit.edu 37 18 25591942 25591942 + Silent SNP A C C TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr18:25591942A>C uc002kwg.2 - 4 873 c.414T>G c.(412-414)GTT>GTG p.V138V CDH2_uc010xbn.1_Silent_p.V107V NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 138 adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 CTATTTCTTCAACTTCTGCTG 0.388 SBNO2 22904 broad.mit.edu 37 19 1113547 1113547 + Missense_Mutation SNP T C C TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr19:1113547T>C uc002lrk.3 - 19 2472 c.2234A>G c.(2233-2235)CAG>CGG p.Q745R SBNO2_uc002lrj.3_Missense_Mutation_p.Q688R|SBNO2_uc010dse.2_Missense_Mutation_p.Q728R|SBNO2_uc010xgj.1_Intron NM_014963 NP_055778 Q9Y2G9 SBNO2_HUMAN strawberry notch homolog 2 isoform 1 745 macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGCCACCCGCTGGGGGCCGCC 0.697 ZNF554 115196 broad.mit.edu 37 19 2833912 2833912 + Missense_Mutation SNP A T T TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr19:2833912A>T uc002lwm.2 + 5 877 c.679A>T c.(679-681)AAT>TAT p.N227Y ZNF554_uc002lwl.2_Missense_Mutation_p.N176Y NM_001102651 NP_001096121 Q86TJ5 ZN554_HUMAN zinc finger protein 554 227 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGAAAATGGTAATCTGAGCCC 0.502 C19orf71 100128569 broad.mit.edu 37 19 3543251 3543252 + Frame_Shift_Del DEL GG - - TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr19:3543251_3543252delGG uc010xhm.1 + 2 123_124 c.102_103delGG c.(100-105)CTGGAGfs p.L34fs C19orf28_uc002lxw.2_Intron|C19orf28_uc002lxx.2_Intron NM_001135580 NP_001129052 A6NCJ1 CS071_HUMAN hypothetical protein LOC100128569 34_35 0 ACCTGTCCCTGGAGGGTTCCCG 0.644 MCOLN1 57192 broad.mit.edu 37 19 7591685 7591685 + Silent SNP G A A TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr19:7591685G>A uc002mgo.2 + 4 569 c.444G>A c.(442-444)GCG>GCA p.A148A MCOLN1_uc002mgp.2_Missense_Mutation_p.R35H NM_020533 NP_065394 Q9GZU1 MCLN1_HUMAN mucolipin 1 148 calcium ion transport|cellular iron ion homeostasis|transferrin transport integral to plasma membrane|late endosome membrane|lysosomal membrane cation channel activity|iron ion transmembrane transporter activity breast(1) 1 GCCGGTATGCGTATGTCCGTG 0.537 CLEC4M 10332 broad.mit.edu 37 19 7832494 7832494 + Silent SNP C T T TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr19:7832494C>T uc002mih.2 + 7 1078 c.960C>T c.(958-960)GAC>GAT p.D320D CLEC4M_uc002mhy.2_3'UTR|CLEC4M_uc010xjw.1_Silent_p.D276D|CLEC4M_uc010dvt.2_Silent_p.D297D|CLEC4M_uc010dvs.2_Silent_p.D319D|CLEC4M_uc010xjx.1_Silent_p.D292D|CLEC4M_uc002mhz.2_Intron|CLEC4M_uc002mic.2_Intron|CLEC4M_uc002mia.2_Silent_p.D207D NM_001144910 NP_001138382 Q9H2X3 CLC4M_HUMAN C-type lectin domain family 4, member M isoform 343 Extracellular (Probable).|C-type lectin. cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to plasma membrane ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding pancreas(1) 1 AATGGGTGGACGGCTCACCTC 0.562 CYP4F12 66002 broad.mit.edu 37 19 15795890 15795890 + Missense_Mutation SNP C T T TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr19:15795890C>T uc002nbl.2 + 9 1059 c.998C>T c.(997-999)ACG>ATG p.T333M NM_023944 NP_076433 cytochrome P450, family 4, subfamily F, skin(3)|ovary(2)|central_nervous_system(2) 7 Acute lymphoblastic leukemia(2;0.0367) CATGACACCACGGCCAGTGGC 0.627 SBSN 374897 broad.mit.edu 37 19 36019170 36019170 + Missense_Mutation SNP C T T rs138249808 TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr19:36019170C>T uc002oae.1 - 1 84 c.14G>A c.(13-15)CGT>CAT p.R5H SBSN_uc002oad.1_Missense_Mutation_p.R5H NM_198538 NP_940940 Q6UWP8 SBSN_HUMAN suprabasin isoform 2 precursor 5 extracellular region ovary(1) 1 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GCCGACCAGACGTGCAAGATG 0.587 FCGBP 8857 broad.mit.edu 37 19 40380305 40380305 + Silent SNP G A A TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr19:40380305G>A uc002omp.3 - 23 11018 c.11010C>T c.(11008-11010)TTC>TTT p.F3670F NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 3670 VWFD 9. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CCATGAAGTCGAAGCGGTGGC 0.672 PRX 57716 broad.mit.edu 37 19 40902798 40902798 + Silent SNP C T T rs140474860 TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr19:40902798C>T uc002onr.2 - 7 1730 c.1461G>A c.(1459-1461)CCG>CCA p.P487P PRX_uc002onq.2_Silent_p.P348P|PRX_uc002ons.2_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN periaxin isoform 2 487 9.|55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER]. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding ovary(2) 2 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCCGCACCTCCGGCACAGCCA 0.597 ZNF816A 125893 broad.mit.edu 37 19 53453300 53453300 + Silent SNP T C C TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr19:53453300T>C uc002qal.1 - 5 2029 c.1728A>G c.(1726-1728)CAA>CAG p.Q576Q ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Silent_p.Q560Q NM_001031665 NP_001026835 Q0VGE8 ZN816_HUMAN zinc finger protein 816A 576 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0313) GGATTCCTTTTTGATTAAAAA 0.388 VRK2 7444 broad.mit.edu 37 2 58373508 58373508 + Missense_Mutation SNP G A A rs139700760 TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr2:58373508G>A uc002rzo.2 + 15 1826 c.1081G>A c.(1081-1083)GAA>AAA p.E361K VRK2_uc010fcb.2_Missense_Mutation_p.E361K|VRK2_uc002rzs.2_Missense_Mutation_p.E361K|VRK2_uc002rzr.2_Missense_Mutation_p.E361K|VRK2_uc010fcc.2_Missense_Mutation_p.E243K|VRK2_uc002rzv.2_Missense_Mutation_p.E361K|VRK2_uc010fcd.2_Missense_Mutation_p.E338K|VRK2_uc002rzp.2_Missense_Mutation_p.E361K|VRK2_uc010ypg.1_Missense_Mutation_p.E361K|VRK2_uc002rzq.2_Missense_Mutation_p.E361K|VRK2_uc002rzu.2_Missense_Mutation_p.E361K|VRK2_uc002rzt.2_Missense_Mutation_p.E243K NM_001130482 NP_001123954 Q86Y07 VRK2_HUMAN vaccinia related kinase 2 isoform 2 361 integral to membrane ATP binding|protein binding|protein serine/threonine kinase activity ovary(1) 1 TAGGTTAATCGAAAAAAAAGT 0.383 RPN2 6185 broad.mit.edu 37 20 35835810 35835810 + Silent SNP T C C TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr20:35835810T>C uc002xgp.2 + 7 1129 c.825T>C c.(823-825)CCT>CCC p.P275P RPN2_uc002xgo.3_Silent_p.P275P|RPN2_uc010gfw.2_Silent_p.P118P|RPN2_uc002xgq.2_Silent_p.P243P NM_002951 NP_002942 P04844 RPN2_HUMAN ribophorin II isoform 1 precursor 275 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|nucleus|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding ovary(2)|skin(1) 3 Myeloproliferative disorder(115;0.00878) TGGTTGTGCCTGAGGGCTCTG 0.537 SLC13A3 64849 broad.mit.edu 37 20 45194937 45194937 + Silent SNP G A A rs147641404 TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr20:45194937G>A uc002xsf.1 - 11 1463 c.1425C>T c.(1423-1425)ATC>ATT p.I475I SLC13A3_uc010ghn.1_Silent_p.I444I|SLC13A3_uc010zxw.1_Silent_p.I425I|SLC13A3_uc002xsg.1_Silent_p.I428I|SLC13A3_uc010gho.1_Silent_p.I393I|SLC13A3_uc010zxx.1_Silent_p.I377I|SLC13A3_uc002xse.1_5'Flank|SLC13A3_uc010ghm.1_Silent_p.I62I|SLC13A3_uc010zxv.1_Silent_p.I60I NM_022829 NP_073740 Q8WWT9 S13A3_HUMAN solute carrier family 13 member 3 isoform a 475 Helical; (Potential). integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) TGAAGAAGGCGATGACCACAG 0.617 KCNG1 3755 broad.mit.edu 37 20 49626233 49626233 + Missense_Mutation SNP C G G TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr20:49626233C>G uc002xwa.3 - 2 938 c.643G>C c.(643-645)GAC>CAC p.D215H KCNG1_uc002xwb.2_Missense_Mutation_p.D215H NM_002237 NP_002228 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, 215 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1)|central_nervous_system(1) 2 TCCACCATGTCGCGCAGTCGC 0.726 COL6A2 1292 broad.mit.edu 37 21 47532419 47532419 + Silent SNP C T T TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr21:47532419C>T uc002zia.1 + 3 724 c.642C>T c.(640-642)AAC>AAT p.N214N COL6A2_uc002zhy.1_Silent_p.N214N|COL6A2_uc002zhz.1_Silent_p.N214N|COL6A2_uc002zib.1_Intron NM_001849 NP_001840 P12110 CO6A2_HUMAN alpha 2 type VI collagen isoform 2C2 precursor 214 VWFA 1.|Nonhelical region. 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) TCTACCGCAACGACTACGCCA 0.667 CBLB 868 broad.mit.edu 37 3 105400636 105400636 + Missense_Mutation SNP A G G TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr3:105400636A>G uc003dwc.2 - 15 2550 c.2228T>C c.(2227-2229)CTG>CCG p.L743P CBLB_uc003dwa.2_Missense_Mutation_p.L2P|CBLB_uc011bhi.1_Missense_Mutation_p.L765P|CBLB_uc003dwd.1_Missense_Mutation_p.L743P|CBLB_uc003dwe.1_Missense_Mutation_p.L743P NM_170662 NP_733762 Q13191 CBLB_HUMAN Cas-Br-M (murine) ecotropic retroviral 743 Pro-rich. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding lung(4)|ovary(3)|breast(1)|skin(1) 9 TGTTCCATTCAGCATACAGTG 0.343 Mis S AML PHLDB2 90102 broad.mit.edu 37 3 111632481 111632481 + Missense_Mutation SNP C T T TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr3:111632481C>T uc010hqa.2 + 3 2062 c.1651C>T c.(1651-1653)CCT>TCT p.P551S PHLDB2_uc003dyc.2_Missense_Mutation_p.P578S|PHLDB2_uc003dyd.2_Missense_Mutation_p.P551S|PHLDB2_uc003dyg.2_Missense_Mutation_p.P551S|PHLDB2_uc003dyh.2_Missense_Mutation_p.P551S|PHLDB2_uc003dyi.2_Missense_Mutation_p.P137S|PHLDB2_uc003dyf.3_Missense_Mutation_p.P551S NM_001134438 NP_001127910 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, 551 cytoplasm|intermediate filament cytoskeleton|plasma membrane ovary(4)|skin(2) 6 CACCCGGACTCCTCCACCACC 0.512 CCDC48 79825 broad.mit.edu 37 3 128757682 128757682 + Silent SNP G A A TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr3:128757682G>A uc011bkt.1 + 7 1599 c.1599G>A c.(1597-1599)TCG>TCA p.S533S NM_024768 NP_079044 Q9HA90 CCD48_HUMAN coiled-coil domain containing 48 533 Potential. 0 AGAACATATCGAAAAGAGCCC 0.552 LRRC33 375387 broad.mit.edu 37 3 196388089 196388089 + Silent SNP C T T TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr3:196388089C>T uc003fwv.2 + 3 1679 c.1575C>T c.(1573-1575)TCC>TCT p.S525S NM_198565 NP_940967 Q86YC3 LRC33_HUMAN leucine rich repeat containing 33 precursor 525 Extracellular (Potential).|LRR 18. integral to membrane ovary(2)|central_nervous_system(1) 3 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) GCCTCCACTCCAGCTTTATGG 0.567 FGFBP2 83888 broad.mit.edu 37 4 15964315 15964315 + Silent SNP C T T TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr4:15964315C>T uc003gon.2 - 1 545 c.438G>A c.(436-438)GGG>GGA p.G146G NM_031950 NP_114156 Q9BYJ0 FGFP2_HUMAN killer-specific secretory protein of 37 kDa 146 extracellular space growth factor binding 0 GAGATGGCGTCCCAGCCTCAG 0.617 STAP1 26228 broad.mit.edu 37 4 68449405 68449405 + Missense_Mutation SNP T C C TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr4:68449405T>C uc003hde.3 + 6 726 c.644T>C c.(643-645)ATT>ACT p.I215T STAP1_uc003hdf.2_Missense_Mutation_p.I215T NM_012108 NP_036240 Q9ULZ2 STAP1_HUMAN signal transducing adaptor family member 1 215 SH2. cellular membrane fusion|intracellular protein transport cytoplasm 0 TCCATCACTATTCGGCAGGAG 0.408 PDHA2 5161 broad.mit.edu 37 4 96761326 96761326 + Missense_Mutation SNP G A A TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr4:96761326G>A uc003htr.3 + 1 88 c.25G>A c.(25-27)GTG>ATG p.V9M NM_005390 NP_005381 P29803 ODPAT_HUMAN pyruvate dehydrogenase E1 alpha 2 precursor 9 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) CATCTCCCGCGTGTTGAGGCG 0.557 EGF 1950 broad.mit.edu 37 4 110908980 110908980 + Silent SNP T C C TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr4:110908980T>C uc003hzy.3 + 17 3024 c.2572T>C c.(2572-2574)TTG>CTG p.L858L EGF_uc011cfu.1_Silent_p.L816L|EGF_uc011cfv.1_Silent_p.L858L|EGF_uc010imk.2_Intron NM_001963 NP_001954 P01133 EGF_HUMAN epidermal growth factor precursor 858 EGF-like 6.|Extracellular (Potential). angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) ATGTCAGTGTTTGAAAGGATT 0.423 SLC6A19 340024 broad.mit.edu 37 5 1217004 1217004 + Missense_Mutation SNP G A A TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr5:1217004G>A uc003jbw.3 + 8 1173 c.1117G>A c.(1117-1119)GCG>ACG p.A373T NM_001003841 NP_001003841 Q695T7 S6A19_HUMAN solute carrier family 6, member 19 373 Extracellular (Potential). cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CTCCGACCCCGCGGCCTACGC 0.622 PIK3R1 5295 broad.mit.edu 37 5 67591086 67591086 + Missense_Mutation SNP A G G TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr5:67591086A>G uc003jva.2 + 13 2239 c.1679A>G c.(1678-1680)GAC>GGC p.D560G PIK3R1_uc003jvb.2_Missense_Mutation_p.D560G|PIK3R1_uc003jvc.2_Missense_Mutation_p.D260G|PIK3R1_uc003jvd.2_Missense_Mutation_p.D290G|PIK3R1_uc003jve.2_Missense_Mutation_p.D239G|PIK3R1_uc011crb.1_Missense_Mutation_p.D230G NM_181523 NP_852664 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 560 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.D560_S565del(1)|p.R557_K561>Q(1)|p.D560Y(1)|p.?(1) endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1) 101 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) CGAGAAATTGACAAACGTATG 0.358 Mis|F|O gliobastoma|ovarian|colorectal TCGA GBM(4;<1E-08) GRIA1 2890 broad.mit.edu 37 5 153065877 153065877 + Silent SNP C T T rs140876127 TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr5:153065877C>T uc003lva.3 + 8 1487 c.1122C>T c.(1120-1122)GAC>GAT p.D374D GRIA1_uc003luy.3_Silent_p.D374D|GRIA1_uc003luz.3_Silent_p.D279D|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Silent_p.D294D|GRIA1_uc011dcx.1_Silent_p.D305D|GRIA1_uc011dcy.1_Silent_p.D384D|GRIA1_uc011dcz.1_Silent_p.D384D|GRIA1_uc010jia.1_Silent_p.D354D NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 374 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding ovary(4)|skin(2) 6 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TGAAACATGACGGCATCCGAA 0.502 FLT4 2324 broad.mit.edu 37 5 180048603 180048603 + Silent SNP G A A TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr5:180048603G>A uc003mma.3 - 13 2038 c.1959C>T c.(1957-1959)TGC>TGT p.C653C FLT4_uc003mlz.3_Silent_p.C653C|FLT4_uc003mmb.1_Silent_p.C186C|FLT4_uc011dgy.1_Silent_p.C653C NM_002020 NP_002011 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 isoform 2 653 Ig-like C2-type 6.|Extracellular (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1) 15 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) CTTGCACTTCGCACACATAGT 0.697 Congenital_Hereditary_Lymphedema IRF4 3662 broad.mit.edu 37 6 397159 397159 + Missense_Mutation SNP G A A TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr6:397159G>A uc003msz.3 + 5 657 c.544G>A c.(544-546)GTC>ATC p.V182I IRF4_uc010jne.1_Missense_Mutation_p.V182I|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Missense_Mutation_p.V181I|IRF4_uc003mtc.1_Missense_Mutation_p.V12I NM_002460 NP_002451 Q15306 IRF4_HUMAN interferon regulatory factor 4 182 interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway cytoplasm DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(1) 1 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) GAGGGACTACGTCCCGGATCA 0.567 T IGH@ MM OR10C1 442194 broad.mit.edu 37 6 29407979 29407979 + Missense_Mutation SNP C T T TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr6:29407979C>T uc011dlp.1 + 1 187 c.187C>T c.(187-189)CGC>TGC p.R63C OR11A1_uc010jrh.1_Intron NM_013941 NP_039229 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, 63 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CTTCTTCCTGCGCACCCTCTC 0.572 C6orf126 389383 broad.mit.edu 37 6 35747188 35747188 + Silent SNP C A A TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr6:35747188C>A uc010jvz.1 + 3 268 c.264C>A c.(262-264)TCC>TCA p.S88S C6orf126_uc003olc.1_Missense_Mutation_p.Q115K|C6orf127_uc003old.3_5'Flank NM_207409 NP_997292 Q6UWE3 CF126_HUMAN hypothetical protein LOC389383 precursor 88 digestion|lipid catabolic process extracellular region enzyme activator activity 0 CGTGCATATCCAAGGACTTGA 0.567 NFKBIE 4794 broad.mit.edu 37 6 44229489 44229489 + Missense_Mutation SNP C T T TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr6:44229489C>T uc003oxe.1 - 3 1007 c.982G>A c.(982-984)GAC>AAC p.D328N NM_004556 NP_004547 O00221 IKBE_HUMAN nuclear factor of kappa light polypeptide gene 328 ANK 3. cytoplasmic sequestering of transcription factor protein binding breast(2) 2 all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) AGGGCTGTGTCACCATGCCGG 0.652 FAM83B 222584 broad.mit.edu 37 6 54806091 54806091 + Silent SNP G A A TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr6:54806091G>A uc003pck.2 + 5 2438 c.2322G>A c.(2320-2322)AAG>AAA p.K774K NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN hypothetical protein LOC222584 774 ovary(6) 6 Lung NSC(77;0.0178)|Renal(3;0.122) GGTCTCAGAAGTTAAGGTCAT 0.363 C6orf186 728464 broad.mit.edu 37 6 110567207 110567207 + Missense_Mutation SNP T G G TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr6:110567207T>G uc010kdu.1 - 5 1043 c.1043A>C c.(1042-1044)GAC>GCC p.D348A C6orf186_uc003pub.2_Missense_Mutation_p.D151A NM_001123364 NP_001116836 Q5JXM2 CF186_HUMAN chromosome 6 open reading frame 186 precursor 348 extracellular region 0 ATTGAAAATGTCTTTCTTCAA 0.373 LPA 4018 broad.mit.edu 37 6 161006177 161006177 + Missense_Mutation SNP C T T TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr6:161006177C>T uc003qtl.2 - 27 4310 c.4190G>A c.(4189-4191)CGA>CAA p.R1397Q NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 3905 Kringle 35. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) GAGTGTGCCTCGATAACTCTG 0.468 C7orf27 221927 broad.mit.edu 37 7 2580983 2580983 + Missense_Mutation SNP G A A TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr7:2580983G>A uc003smi.2 - 9 1312 c.1270C>T c.(1270-1272)CGG>TGG p.R424W C7orf27_uc003smh.3_5'UTR NM_152743 NP_689956 Q6PJG6 BRAT1_HUMAN hypothetical protein LOC221927 precursor 424 response to ionizing radiation nucleus protein binding 0 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;2.91e-14) CGCTGGACCCGGACGCAGCCC 0.682 SP4 6671 broad.mit.edu 37 7 21550871 21550871 + Missense_Mutation SNP A G G TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr7:21550871A>G uc003sva.2 + 6 2520 c.2339A>G c.(2338-2340)AAC>AGC p.N780S SP4_uc003svb.2_Missense_Mutation_p.N467S NM_003112 NP_003103 Q02446 SP4_HUMAN Sp4 transcription factor 780 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(3)|skin(2) 5 GTTTCAACCAACATGGAAGAA 0.423 PDE1C 5137 broad.mit.edu 37 7 32091191 32091191 + Missense_Mutation SNP T C C TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr7:32091191T>C uc003tcm.1 - 2 572 c.103A>G c.(103-105)AGG>GGG p.R35G PDE1C_uc003tcn.1_Missense_Mutation_p.R35G|PDE1C_uc003tco.1_Intron|PDE1C_uc003tcr.2_Missense_Mutation_p.R35G|PDE1C_uc003tcs.2_Missense_Mutation_p.R35G NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C 35 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(3)|central_nervous_system(1) 4 GBM - Glioblastoma multiforme(11;0.216) TTATATTTCCTCCTGTAAGAA 0.468 ASL 435 broad.mit.edu 37 7 65554649 65554649 + Silent SNP C G G rs140532520 byFrequency TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr7:65554649C>G uc003tuo.2 + 14 1140 c.1029C>G c.(1027-1029)CTC>CTG p.L343L ASL_uc003tup.2_Silent_p.L343L|ASL_uc003tur.2_Silent_p.L317L|ASL_uc003tuq.2_Silent_p.L323L NM_000048 NP_000039 P04424 ARLY_HUMAN argininosuccinate lyase isoform 1 343 arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle cytosol argininosuccinate lyase activity breast(2) 2 L-Arginine(DB00125) GTGCCGTGCTCCAGGTGGCCA 0.637 CNTNAP2 26047 broad.mit.edu 37 7 148112574 148112574 + Missense_Mutation SNP C T T rs138661307 TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr7:148112574C>T uc003weu.1 + 24 4378 c.3862C>T c.(3862-3864)CGC>TGC p.R1288C CNTNAP2_uc003wev.1_Missense_Mutation_p.R65C NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 1288 Cytoplasmic (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding p.R1288C(1) ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GTACATGTTCCGCCACAAGGG 0.567 HNSCC(39;0.1) PXDNL 137902 broad.mit.edu 37 8 52321474 52321474 + Nonsense_Mutation SNP C A A TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr8:52321474C>A uc003xqu.3 - 17 2811 c.2710G>T c.(2710-2712)GAG>TAG p.E904* PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 904 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GATTCCCGCTCCGAGCTCCCG 0.592 DCAF13 25879 broad.mit.edu 37 8 104452461 104452461 + Missense_Mutation SNP C T T TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr8:104452461C>T uc003yln.2 + 9 1781 c.1504C>T c.(1504-1506)CGC>TGC p.R502C DCAF13_uc003ylm.1_Missense_Mutation_p.R235C|DCAF13_uc003ylo.2_Missense_Mutation_p.R213C NM_015420 NP_056235 Q9NV06 DCA13_HUMAN WD repeats and SOF1 domain containing 350 WD 7. rRNA processing CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex breast(1) 1 AATGAACATTCGCCTGTGGAA 0.328 TM7SF4 81501 broad.mit.edu 37 8 105360771 105360771 + Translation_Start_Site SNP C T T TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr8:105360771C>T uc003ylx.1 + 2 40 c.-9C>T c.(-11--7)GACGC>GATGC NM_030788 NP_110415 Q9H295 TM7S4_HUMAN dendritic cell-specific transmembrane protein 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) ATTTTCAGGACGCAGGGAGCA 0.393 TIGD5 84948 broad.mit.edu 37 8 144681263 144681263 + Missense_Mutation SNP G A A TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr8:144681263G>A uc003yyx.1 + 1 1043 c.1043G>A c.(1042-1044)GGC>GAC p.G348D EEF1D_uc011lki.1_5'Flank|EEF1D_uc011lkj.1_5'Flank|EEF1D_uc003yyr.2_5'Flank|EEF1D_uc003yyt.2_5'Flank|EEF1D_uc011lkk.1_5'Flank|EEF1D_uc003yys.2_5'Flank|EEF1D_uc003yyv.2_5'Flank|EEF1D_uc003yyu.2_5'Flank|EEF1D_uc011lkl.1_5'Flank NM_032862 NP_116251 Q53EQ6 TIGD5_HUMAN tigger transposable element derived 5 397 regulation of transcription, DNA-dependent chromosome, centromeric region DNA binding 0 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) ACACCGGATGGCGCTGTGCGG 0.692 FAM83H 286077 broad.mit.edu 37 8 144808805 144808805 + Silent SNP G A A TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr8:144808805G>A uc003yzk.2 - 5 2895 c.2826C>T c.(2824-2826)TCC>TCT p.S942S FAM83H_uc010mfk.1_RNA NM_198488 NP_940890 Q6ZRV2 FA83H_HUMAN FAM83H 942 biomineral tissue development lung(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GGGACTCCCCGGAGATGGTAA 0.736 FAM75A3 727830 broad.mit.edu 37 9 40702725 40702725 + Missense_Mutation SNP G A A TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr9:40702725G>A uc010mmj.2 + 4 411 c.382G>A c.(382-384)GAA>AAA p.E128K NM_001083124 NP_001076593 Q5VYP0 F75A3_HUMAN hypothetical protein LOC727830 128 Pro-rich. integral to membrane ovary(2)|skin(1) 3 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TGAGGTGGGCGAAAGAGCACC 0.602 TRPM3 80036 broad.mit.edu 37 9 73399100 73399100 + Missense_Mutation SNP C T T rs141951214 byFrequency TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr9:73399100C>T uc004aid.2 - 7 1313 c.1069G>A c.(1069-1071)GTG>ATG p.V357M TRPM3_uc004ahu.2_Missense_Mutation_p.V187M|TRPM3_uc004ahv.2_Missense_Mutation_p.V187M|TRPM3_uc004ahw.2_Missense_Mutation_p.V229M|TRPM3_uc004ahx.2_Missense_Mutation_p.V204M|TRPM3_uc004ahy.2_Missense_Mutation_p.V229M|TRPM3_uc004ahz.2_Missense_Mutation_p.V204M|TRPM3_uc004aia.2_Missense_Mutation_p.V204M|TRPM3_uc004aib.2_Missense_Mutation_p.V204M|TRPM3_uc004aic.2_Missense_Mutation_p.V357M|TRPM3_uc010mor.2_Missense_Mutation_p.V357M|TRPM3_uc004aie.2_Missense_Mutation_p.V204M|TRPM3_uc004aif.2_Missense_Mutation_p.V229M|TRPM3_uc004aig.2_Missense_Mutation_p.V204M NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 382 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 ACCACTGGCACGGGAGGGGTG 0.547 ROR2 4920 broad.mit.edu 37 9 94486082 94486082 + Silent SNP C T T rs141070315 TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr9:94486082C>T uc004arj.1 - 9 2893 c.2694G>A c.(2692-2694)CAG>CAA p.Q898Q ROR2_uc004ari.1_Intron NM_004560 NP_004551 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 898 Cytoplasmic (Potential). negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1) 20 CTGGGGCGTTCTGTGTGTCAT 0.637 TNC 3371 broad.mit.edu 37 9 117783441 117783441 + Missense_Mutation SNP C T T TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr9:117783441C>T uc004bjj.3 - 28 6963 c.6601G>A c.(6601-6603)GCA>ACA p.A2201T TNC_uc010mvf.2_Missense_Mutation_p.A1928T NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 2201 cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 GGAATTTATGCCCGTTTGCGC 0.502 OR1L1 26737 broad.mit.edu 37 9 125424265 125424265 + Missense_Mutation SNP A G G TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr9:125424265A>G uc011lza.1 + 1 421 c.421A>G c.(421-423)ACC>GCC p.T141A NM_001005236 NP_001005236 Q8NH94 OR1L1_HUMAN olfactory receptor, family 1, subfamily L, 141 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(1) 4 AGAGACAAAGACCATCTCTTA 0.433 EXD3 54932 broad.mit.edu 37 9 140201420 140201420 + Silent SNP C T T TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chr9:140201420C>T uc004cmp.2 - 22 2809 c.2613G>A c.(2611-2613)CCG>CCA p.P871P C9orf167_uc011mew.1_Intron|EXD3_uc010ncf.1_Silent_p.P509P NM_017820 NP_060290 Q8N9H8 MUT7_HUMAN exonuclease 3'-5' domain containing 3 871 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding 0 GACTGCTGGCCGGGCTGGGGG 0.652 FGF13 2258 broad.mit.edu 37 X 137785220 137785220 + Nonsense_Mutation SNP G A A TCGA-12-0688-01A-02D-1492-08 TCGA-12-0688-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 143dc738-1694-4105-8115-9cc0902ef35b 634c7656-b172-4d88-a5a6-18389bc6dffe g.chrX:137785220G>A uc004fam.2 - 3 990 c.328C>T c.(328-330)CGA>TGA p.R110* FGF13_uc004fan.2_Nonsense_Mutation_p.R57*|FGF13_uc011mwi.1_Nonsense_Mutation_p.R91*|FGF13_uc004faq.2_Nonsense_Mutation_p.R120*|FGF13_uc004far.2_Nonsense_Mutation_p.R91*|FGF13_uc011mwj.1_Nonsense_Mutation_p.R120*|FGF13_uc011mwk.1_Nonsense_Mutation_p.R64* NM_004114 NP_004105 Q92913 FGF13_HUMAN fibroblast growth factor 13 isoform 1 110 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) GCCACCACTCGCAGACCCACA 0.408