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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample DCDC2B 149069 broad.mit.edu 37 1 32678173 32678173 + Missense_Mutation SNP G G A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr1:32678173G>A uc001bun.2 + 5 610 c.610G>A c.(610-612)GAG>AAG p.E204K NM_001099434 NP_001092904 A2VCK2 DCD2B_HUMAN doublecortin domain containing 2B 204 Doublecortin 2. intracellular signal transduction 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) CGGAGAGGATGAGTTCAAGGA 0.612 NaN 0 0 0 0.009535 0 33 85 HPCA 3208 broad.mit.edu 37 1 33354707 33354707 + Missense_Mutation SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr1:33354707C>T uc001bwh.2 + 2 248 c.208C>T c.(208-210)CGC>TGC p.R70C NM_002143 NP_002134 P84074 HPCA_HUMAN hippocalcin 70 EF-hand 2. actin binding|calcium ion binding ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) GCACGTCTTCCGCACCTTTGA 0.557 NaN 0 0 0 0.009718 0 37 119 MACF1 23499 broad.mit.edu 37 1 39851577 39851577 + Missense_Mutation SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr1:39851577C>T uc010oiu.1 + 21 9771 c.9640C>T c.(9640-9642)CTC>TTC p.L3214F MACF1_uc010ois.1_Missense_Mutation_p.L2712F|MACF1_uc001cda.1_Missense_Mutation_p.L2599F|MACF1_uc001cdc.1_Missense_Mutation_p.L1778F NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 4779 LRR 18. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TGCCCTGCCTCTCCAAGGTTT 0.483 NaN 0 0 0 0.00632 0 24 54 GLIS1 148979 broad.mit.edu 37 1 54060263 54060263 + Missense_Mutation SNP G G A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr1:54060263G>A uc001cvr.1 - 3 880 c.313C>T c.(313-315)CGG>TGG p.R105W NM_147193 NP_671726 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 105 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding skin(1) 1 GGGGGGCTCCGGAGTCCATTT 0.662 NaN 0 0 0 0.010729 0 9 33 LRRIQ3 127255 broad.mit.edu 37 1 74507362 74507362 + Missense_Mutation SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr1:74507362C>T uc001dfy.3 - 7 1445 c.1253G>A c.(1252-1254)CGA>CAA p.R418Q LRRIQ3_uc001dfz.3_Intron NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 418 ovary(2) 2 ACTAAATGTTCGGAGTTTCAT 0.363 NaN 0 0 0 0.013537 0 13 30 LPHN2 23266 broad.mit.edu 37 1 82436188 82436188 + Missense_Mutation SNP T T C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr1:82436188T>C uc001dit.3 + 15 3054 c.2873T>C c.(2872-2874)ATT>ACT p.I958T LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.I958T|LPHN2_uc001div.2_Missense_Mutation_p.I958T|LPHN2_uc009wcd.2_Missense_Mutation_p.I958T|LPHN2_uc001diw.2_Missense_Mutation_p.I542T|LPHN2_uc009wce.1_Missense_Mutation_p.I44T NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 971 Helical; Name=4; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) TCAGCTGCTATTGACTATAAG 0.353 NaN 0 0 0 0.010729 0 11 35 CELSR2 1952 broad.mit.edu 37 1 109806339 109806339 + Silent SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr1:109806339C>T uc001dxa.3 + 9 5002 c.4941C>T c.(4939-4941)CGC>CGT p.R1647R NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 1647 Extracellular (Potential).|Laminin G-like 2. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) TCCGCACGCGCCAGGCCGACG 0.667 NaN OREG0013632 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00874 0 39 104 C1orf183 55924 broad.mit.edu 37 1 112269937 112269937 + Missense_Mutation SNP C C G TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr1:112269937C>G uc001ebo.1 - 2 705 c.547G>C c.(547-549)GAG>CAG p.E183Q C1orf183_uc001ebp.1_Missense_Mutation_p.E168Q NM_019099 NP_061972 Q9NTI7 CA183_HUMAN hypothetical protein LOC55924 isoform 1 183 ovary(2) 2 all_cancers(81;7.29e-06)|all_epithelial(167;4.98e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.16e-05) Lung(183;0.0155)|Colorectal(144;0.0289)|all cancers(265;0.0592)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0852)|COAD - Colon adenocarcinoma(174;0.113) CCCCCAGTCTCACCCTTCTCC 0.577 NaN 0 0 0 0.01441 0 68 53 PDE4DIP 9659 broad.mit.edu 37 1 144923816 144923816 + Missense_Mutation SNP C C A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr1:144923816C>A uc001elw.3 - 6 933 c.642G>T c.(640-642)ATG>ATT p.M214I NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.M280I|PDE4DIP_uc001emc.1_Missense_Mutation_p.M214I|PDE4DIP_uc001emd.1_Missense_Mutation_p.M214I|PDE4DIP_uc001emb.1_Missense_Mutation_p.M377I|PDE4DIP_uc001eme.1_5'Flank|PDE4DIP_uc001emf.1_Missense_Mutation_p.M1I NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 214 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) ACTCTTCAGTCATGGGCTAGG 0.398 NaN T PDGFRB MPD 1 0 1.15919e-05 0.008871 1.20509e-05 20 191 ZNF687 57592 broad.mit.edu 37 1 151260360 151260360 + Silent SNP C C T rs142842127 byFrequency TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr1:151260360C>T uc001exq.2 + 2 1691 c.1593C>T c.(1591-1593)ACC>ACT p.T531T ZNF687_uc001exp.1_Silent_p.T540T|ZNF687_uc009wmo.2_Silent_p.T531T|ZNF687_uc009wmp.2_Silent_p.T531T NM_020832 NP_065883 Q8N1G0 ZN687_HUMAN zinc finger protein 687 531 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding central_nervous_system(3)|ovary(1) 4 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TGCCTCCCACCGGCTACCGCT 0.617 NaN 0 0 0 0.003163 0 15 76 APCS 325 broad.mit.edu 37 1 159557901 159557901 + Silent SNP G G C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr1:159557901G>C uc001ftv.2 + 2 171 c.75G>C c.(73-75)GGG>GGC p.G25G NM_001639 NP_001630 P02743 SAMP_HUMAN serum amyloid P component precursor 25 Pentaxin. acute-phase response|chaperone-mediated protein complex assembly|protein folding extracellular space metal ion binding|sugar binding|unfolded protein binding ovary(1)|breast(1) 2 all_hematologic(112;0.0429) ACCTCAGTGGGAAGGTGTTTG 0.393 NaN 0 0 0 0.013537 0 11 49 PVRL4 81607 broad.mit.edu 37 1 161046208 161046208 + Missense_Mutation SNP C C G TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr1:161046208C>G uc001fxo.2 - 4 1087 c.788G>C c.(787-789)AGA>ACA p.R263T PVRL4_uc010pjy.1_5'Flank|PVRL4_uc010pjz.1_5'UTR NM_030916 NP_112178 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 precursor 263 Ig-like C2-type 2.|Extracellular (Potential). adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane ovary(2) 2 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) AGCTCCTTCTCTGCCAATGTG 0.552 NaN 0 0 0 0.00874 0 44 66 FCGR2A 2212 broad.mit.edu 37 1 161480706 161480706 + Silent SNP T T A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr1:161480706T>A uc001gan.2 + 5 755 c.702T>A c.(700-702)GCT>GCA p.A234A FCGR2A_uc001gam.2_Silent_p.A233A|FCGR2A_uc001gao.2_RNA NM_001136219 NP_001129691 P12318 FCG2A_HUMAN Fc fragment of IgG, low affinity IIa, receptor 234 Helical; (Potential). integral to membrane|plasma membrane IgG binding|receptor activity ovary(1) 1 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TTGTTGCTGCTGTAGTGGCCT 0.517 NaN 0 0 0 0.01441 0 47 225 GORAB 92344 broad.mit.edu 37 1 170511708 170511708 + Missense_Mutation SNP C C G TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr1:170511708C>G uc001gha.2 + 3 598 c.571C>G c.(571-573)CTT>GTT p.L191V GORAB_uc001ggz.3_Missense_Mutation_p.L191V|GORAB_uc009wvx.2_Missense_Mutation_p.L11V|GORAB_uc001ghb.2_Missense_Mutation_p.L11V|GORAB_uc001ghc.2_Missense_Mutation_p.L11V|GORAB_uc001ghd.2_5'Flank NM_152281 NP_689494 Q5T7V8 GORAB_HUMAN golgin, RAB6-interacting isoform a 191 Potential. Golgi apparatus|nucleus 0 TAAAAAAGCTCTTTTGGCTAA 0.403 NaN 0 0 0 0.014323 0 20 89 IVNS1ABP 10625 broad.mit.edu 37 1 185269586 185269586 + Missense_Mutation SNP G G C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr1:185269586G>C uc001grl.2 - 11 1848 c.1225C>G c.(1225-1227)CAA>GAA p.Q409E IVNS1ABP_uc001gri.2_Missense_Mutation_p.Q69E|IVNS1ABP_uc001grj.2_Missense_Mutation_p.Q69E|IVNS1ABP_uc009wyj.2_Missense_Mutation_p.Q191E|IVNS1ABP_uc009wyk.2_RNA|IVNS1ABP_uc001grm.2_Missense_Mutation_p.Q69E NM_006469 NP_006460 Q9Y6Y0 NS1BP_HUMAN influenza virus NS1A binding protein 409 Kelch 1. interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex ovary(4)|central_nervous_system(1) 5 ACAGCCATTTGAAATCGGGCT 0.428 NaN 0 0 0 0.000602 0 5 29 IL19 29949 broad.mit.edu 37 1 207014389 207014389 + Missense_Mutation SNP A A T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr1:207014389A>T uc001hep.2 + 6 1343 c.404A>T c.(403-405)AAT>ATT p.N135I IL19_uc001heo.2_Missense_Mutation_p.N173I NM_013371 NP_037503 Q9UHD0 IL19_HUMAN interleukin 19 isoform 2 precursor 135 apoptosis|immune response|signal transduction extracellular space cytokine activity ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(75;0.211) GAAGCCACCAATGCCACCAGA 0.517 NaN 0 0 0 0.013537 0 13 27 CEP170 9859 broad.mit.edu 37 1 243328008 243328008 + Missense_Mutation SNP G G A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr1:243328008G>A uc001hzs.2 - 13 3662 c.3254C>T c.(3253-3255)TCA>TTA p.S1085L CEP170_uc001hzt.2_Missense_Mutation_p.S987L|CEP170_uc001hzu.2_Missense_Mutation_p.S987L|CEP170_uc001hzv.1_Missense_Mutation_p.S463L NM_014812 NP_055627 Q5SW79 CE170_HUMAN centrosomal protein 170kDa isoform alpha 1085 Targeting to microtubules. centriole|microtubule|spindle ovary(1)|haematopoietic_and_lymphoid_tissue(1) 2 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) TTTACTAGATGAACCAGATAC 0.483 NaN 0 0 0 0.001168 0 4 34 OR2M7 391196 broad.mit.edu 37 1 248487560 248487560 + Missense_Mutation SNP T T C rs41304034 TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr1:248487560T>C uc010pzk.1 - 1 311 c.311A>G c.(310-312)TAT>TGT p.Y104C NM_001004691 NP_001004691 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, 104 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 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) CAATGATATATAGAAGAAAAT 0.458 NaN 0 0 0 0.01441 0 62 74 KIN 22944 broad.mit.edu 37 10 7816818 7816818 + Missense_Mutation SNP G G A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr10:7816818G>A uc001ijt.2 - 7 692 c.644C>T c.(643-645)TCC>TTC p.S215F KIN_uc010qaz.1_RNA|KIN_uc009xip.2_Missense_Mutation_p.S215F|KIN_uc010qba.1_Missense_Mutation_p.S109F NM_012311 NP_036443 O60870 KIN17_HUMAN HsKin17 protein 215 DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing cytoplasm|nuclear matrix double-stranded DNA binding|RNA binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 TGTTGCTCCGGATGAGCTACA 0.313 NaN 0 0 0 0.008871 0 18 87 DCLRE1C 64421 broad.mit.edu 37 10 14977537 14977537 + Missense_Mutation SNP G G C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr10:14977537G>C uc001inn.2 - 6 474 c.389C>G c.(388-390)ACT>AGT p.T130S DCLRE1C_uc010qbx.1_Missense_Mutation_p.T130S|DCLRE1C_uc001inl.2_Missense_Mutation_p.T10S|DCLRE1C_uc009xji.2_Missense_Mutation_p.T15S|DCLRE1C_uc001inm.2_Missense_Mutation_p.T10S|DCLRE1C_uc001ino.2_Missense_Mutation_p.T15S|DCLRE1C_uc009xjh.2_RNA|DCLRE1C_uc001inp.2_Missense_Mutation_p.T10S|DCLRE1C_uc001inq.2_Missense_Mutation_p.T10S|DCLRE1C_uc001inr.2_Missense_Mutation_p.T15S|DCLRE1C_uc009xjj.1_5'Flank NM_001033855 NP_001029027 Q96SD1 DCR1C_HUMAN artemis protein isoform a 130 DNA recombination nucleus 5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity ovary(1) 1 GTACAGGACAGTTCCATTATT 0.443 NaN Involved_in_tolerance_or_repair_of_DNA_crosslinks|NHEJ 0 0 0 0.007413 0 17 116 CCNY 219771 broad.mit.edu 37 10 35819118 35819118 + Missense_Mutation SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr10:35819118C>T uc001iyw.3 + 7 706 c.526C>T c.(526-528)CGG>TGG p.R176W CCNY_uc001iyu.3_Missense_Mutation_p.R122W|CCNY_uc001iyv.3_Missense_Mutation_p.R122W|CCNY_uc001iyx.3_Missense_Mutation_p.R122W|CCNY_uc009xmb.2_Missense_Mutation_p.R151W|CCNY_uc010qet.1_Missense_Mutation_p.R43W NM_145012 NP_659449 Q8ND76 CCNY_HUMAN cyclin Y isoform 1 176 Cyclin N-terminal. cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane cyclin-dependent protein kinase regulator activity|protein kinase binding 0 CCGGTTCGTTCGGACACTGTT 0.532 NaN 0 0 0 0.004007 0 17 42 C10orf72 196740 broad.mit.edu 37 10 50227712 50227712 + Missense_Mutation SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr10:50227712C>T uc001jhf.2 - 8 975 c.946G>A c.(946-948)GAG>AAG p.E316K NM_001031746 NP_001026916 Q8IW00 CJ072_HUMAN hypothetical protein LOC196740 isoform 1 316 Cytoplasmic (Potential). integral to membrane|plasma membrane 0 TTGTTCTCCTCGAAGAGGATC 0.522 NaN 0 0 0 0.008871 0 18 59 CTNNA3 29119 broad.mit.edu 37 10 68979430 68979430 + Nonsense_Mutation SNP G G A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr10:68979430G>A uc009xpn.1 - 6 901 c.778C>T c.(778-780)CAG>TAG p.Q260* CTNNA3_uc001jmw.2_Nonsense_Mutation_p.Q260*|CTNNA3_uc001jmx.3_Nonsense_Mutation_p.Q260*|CTNNA3_uc009xpo.1_Nonsense_Mutation_p.Q120*|CTNNA3_uc001jna.2_Nonsense_Mutation_p.Q272* NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 260 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 GTCATATTCTGGATCCCTTGT 0.458 NaN 0 0 0 0.000602 0 5 112 TTC18 118491 broad.mit.edu 37 10 75013740 75013740 + Missense_Mutation SNP G G C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr10:75013740G>C uc009xrc.2 - 28 3480 c.3359C>G c.(3358-3360)TCT>TGT p.S1120C TTC18_uc001jty.2_Missense_Mutation_p.S1120C|MRPS16_uc010qkh.1_5'Flank|MRPS16_uc001jts.1_5'Flank|MRPS16_uc001jtt.1_5'Flank|uc001jtu.1_RNA|TTC18_uc001jtv.3_Missense_Mutation_p.S224C|TTC18_uc001jtw.3_Missense_Mutation_p.S194C|TTC18_uc001jtx.2_Missense_Mutation_p.S471C NM_145170 NP_660153 Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 1120 binding ovary(2)|central_nervous_system(1) 3 Prostate(51;0.0119) GTATCAGAAAGATGGATTTCC 0.458 NaN 0 0 0 0.00278 0 21 83 GBF1 8729 broad.mit.edu 37 10 104123535 104123535 + Missense_Mutation SNP G G A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr10:104123535G>A uc001kux.1 + 17 2323 c.2083G>A c.(2083-2085)GAA>AAA p.E695K GBF1_uc001kuy.1_Missense_Mutation_p.E695K|GBF1_uc001kuz.1_Missense_Mutation_p.E696K NM_004193 NP_004184 Q92538 GBF1_HUMAN golgi-specific brefeldin A resistant guanine 695 SEC7. COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) GGAACTAATTGAAATTAAAAA 0.463 NaN 0 0 0 0.00333 0 24 96 C10orf79 80217 broad.mit.edu 37 10 105912421 105912421 + Missense_Mutation SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr10:105912421C>T uc001kxw.2 - 28 3720 c.3604G>A c.(3604-3606)GAA>AAA p.E1202K C10orf79_uc009xxq.2_Missense_Mutation_p.E510K NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN hypothetical protein LOC80217 1202 Potential. 0 Colorectal(252;0.178) Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194) TTCAAATGTTCATCAAAGGCC 0.328 NaN 0 0 0 0.001168 0 5 40 TDRD1 56165 broad.mit.edu 37 10 115962010 115962010 + Missense_Mutation SNP G G A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr10:115962010G>A uc001lbg.1 + 6 802 c.649G>A c.(649-651)GAA>AAA p.E217K TDRD1_uc001lbf.2_Missense_Mutation_p.E208K|TDRD1_uc001lbh.1_Missense_Mutation_p.E208K|TDRD1_uc001lbi.1_Missense_Mutation_p.E208K|TDRD1_uc010qsc.1_5'Flank|TDRD1_uc001lbj.2_5'Flank NM_198795 NP_942090 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 217 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding 0 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) CCACAAACTTGAAAATAAATC 0.299 NaN 0 0 0 0.008291 0 11 23 FOXI2 399823 broad.mit.edu 37 10 129536033 129536033 + Missense_Mutation SNP G G A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr10:129536033G>A uc009yas.2 + 1 496 c.496G>A c.(496-498)GAC>AAC p.D166N uc009yar.1_5'Flank NM_207426 NP_997309 Q6ZQN5 FOXI2_HUMAN forkhead box I2 166 Fork-head. epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222) GGTGCCCCGCGACGAGGACGA 0.667 NaN 0 0 0 0.009096 0 4 19 PPP2R2D 55844 broad.mit.edu 37 10 133769275 133769275 + Missense_Mutation SNP G G C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr10:133769275G>C uc001lks.2 + 7 1314 c.1071G>C c.(1069-1071)GAG>GAC p.E357D PPP2R2D_uc001lkr.2_Missense_Mutation_p.E163D|PPP2R2D_uc001lkt.2_Missense_Mutation_p.E163D|PPP2R2D_uc009yay.2_Missense_Mutation_p.E225D NM_018461 NP_060931 Q66LE6 2ABD_HUMAN protein phosphatase 2, regulatory subunit B, 390 cell division|exit from mitosis|mitosis|signal transduction cytoplasm|protein phosphatase type 2A complex protein phosphatase type 2A regulator activity skin(1) 1 all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21) CCTCGAGAGAGAGCAGCAAAC 0.547 NaN 0 0 0 0.007413 0 19 46 OR51M1 390059 broad.mit.edu 37 11 5411026 5411026 + Missense_Mutation SNP A A T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr11:5411026A>T uc010qzc.1 + 1 398 c.398A>T c.(397-399)GAC>GTC p.D133V HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004756 NP_001004756 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, 133 integral to membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATGTCCTTTGACCGCCTTGTG 0.507 NaN 0 0 0 0.009096 0 4 69 RAG2 5897 broad.mit.edu 37 11 36614207 36614207 + Silent SNP G G T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr11:36614207G>T uc001mwv.3 - 2 1700 c.1512C>A c.(1510-1512)TCC>TCA p.S504S RAG1_uc001mwt.2_Intron|C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank NM_000536 NP_000527 P55895 RAG2_HUMAN recombination activating gene 2 504 chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding skin(3)|ovary(1)|pancreas(1) 5 all_lung(20;0.226) all_hematologic(20;0.00756) TTTTACGGAGGGATTTCATTG 0.413 NaN Familial_Hemophagocytic_Lymphohistiocytosis 1 0 8.28177e-16 0.007413 9.10561e-16 18 44 FNBP4 23360 broad.mit.edu 37 11 47741610 47741610 + Missense_Mutation SNP G G C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr11:47741610G>C uc009ylv.2 - 16 2987 c.2834C>G c.(2833-2835)TCT>TGT p.S945C FNBP4_uc001ngi.2_Missense_Mutation_p.S259C|FNBP4_uc001ngj.2_Missense_Mutation_p.S852C NM_015308 NP_056123 Q8N3X1 FNBP4_HUMAN formin binding protein 4 945 ovary(1) 1 TTTTACCAAAGATGGCATTTT 0.398 NaN 0 0 0 0.013537 0 11 24 OR5D18 219438 broad.mit.edu 37 11 55587183 55587183 + Silent SNP C C G TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr11:55587183C>G uc010rin.1 + 1 78 c.78C>G c.(76-78)GTC>GTG p.V26V NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 26 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) AACTGCAAGTCCCACTCTTCC 0.463 NaN 0 0 0 0.004482 0 8 30 OR8K3 219473 broad.mit.edu 37 11 56085825 56085825 + Missense_Mutation SNP A A T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr11:56085825A>T uc010rjf.1 + 1 43 c.43A>T c.(43-45)ACG>TCG p.T15S NM_001005202 NP_001005202 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, 15 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(21;0.00448) ATTCATTCTTACGGGAATCAC 0.418 NaN 0 0 0 0.004672 0 3 40 C11orf84 144097 broad.mit.edu 37 11 63585488 63585488 + Missense_Mutation SNP G G C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr11:63585488G>C uc001nxt.2 + 2 575 c.339G>C c.(337-339)CAG>CAC p.Q113H NM_138471 NP_612480 Q9BUA3 CK084_HUMAN hypothetical protein LOC144097 113 0 TCTTGGAGCAGCACCCTCACA 0.642 NaN 0 0 0 0.008291 0 10 51 PPP1CA 5499 broad.mit.edu 37 11 67168200 67168200 + Missense_Mutation SNP C C G TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr11:67168200C>G uc001okw.1 - 3 501 c.378G>C c.(376-378)GAG>GAC p.E126D PPP1CA_uc009yro.1_5'UTR|PPP1CA_uc001okt.1_Missense_Mutation_p.E131D|PPP1CA_uc001oku.1_Missense_Mutation_p.E137D|PPP1CA_uc001okv.1_Missense_Mutation_p.E82D|PPP1CA_uc001okx.1_Missense_Mutation_p.E214D|PPP1CA_uc001oky.2_Missense_Mutation_p.E126D NM_002708 NP_002699 P62136 PP1A_HUMAN protein phosphatase 1, catalytic subunit, alpha 126 cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity breast(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(15;8.53e-07) TGCTGGCACACTCGTGGTTCC 0.562 NaN 0 0 0 0.00499 0 17 81 XRRA1 143570 broad.mit.edu 37 11 74556166 74556166 + Nonsense_Mutation SNP C C A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr11:74556166C>A uc009yub.2 - 16 2187 c.1855G>T c.(1855-1857)GAA>TAA p.E619* XRRA1_uc001ovm.2_RNA|XRRA1_uc001ovn.2_Nonsense_Mutation_p.E242*|XRRA1_uc001ovo.2_Nonsense_Mutation_p.E227*|XRRA1_uc001ovq.3_Nonsense_Mutation_p.E532*|XRRA1_uc001ovp.3_Nonsense_Mutation_p.E344*|XRRA1_uc001ovr.2_Nonsense_Mutation_p.E242*|XRRA1_uc001ovs.1_Nonsense_Mutation_p.E221* NM_182969 NP_892014 Q6P2D8 XRRA1_HUMAN X-ray radiation resistance associated 1 619 response to X-ray cytoplasm|nucleus central_nervous_system(1) 1 AGCAGTTCTTCATAGCCGTGG 0.537 NaN 1 0 2.01872e-29 0.01441 2.25495e-29 41 105 C11orf82 220042 broad.mit.edu 37 11 82642952 82642952 + Missense_Mutation SNP G G A rs143776868 byFrequency TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr11:82642952G>A uc001ozt.2 + 6 816 c.572G>A c.(571-573)AGG>AAG p.R191K C11orf82_uc010rsr.1_5'UTR|C11orf82_uc010rss.1_5'UTR|C11orf82_uc009yvd.2_Intron NM_145018 NP_659455 Q8IXT1 NOXIN_HUMAN nitric oxide-inducible gene protein 191 apoptosis|cell cycle arrest cytoplasm|nucleus ovary(2) 2 TTTAATTTCAGGAAACTTCAG 0.408 NaN 0 0 0 0.000602 0 4 87 C11orf63 79864 broad.mit.edu 37 11 122795698 122795698 + Nonsense_Mutation SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr11:122795698C>T uc001pym.2 + 4 1255 c.958C>T c.(958-960)CAA>TAA p.Q320* NM_024806 NP_079082 Q6NUN7 CK063_HUMAN hypothetical protein LOC79864 isoform 1 320 ovary(3) 3 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) TAAATGGCATCAAAGAGCACA 0.408 NaN 0 0 0 0.004656 0 26 8 VWF 7450 broad.mit.edu 37 12 6161750 6161750 + Missense_Mutation SNP G G C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr12:6161750G>C uc001qnn.1 - 16 2395 c.2145C>G c.(2143-2145)ATC>ATG p.I715M VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 715 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) CTGGCTGGAAGATCTCACCGT 0.512 NaN 0 0 0 0.01441 0 109 133 CDCA3 83461 broad.mit.edu 37 12 6958994 6958994 + Silent SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr12:6958994C>T uc001qrg.2 - 4 407 c.279G>A c.(277-279)CTG>CTA p.L93L CDCA3_uc001qre.2_Silent_p.L93L|uc001qrf.1_5'Flank|USP5_uc001qri.3_5'Flank|USP5_uc001qrh.3_5'Flank NM_031299 NP_112589 Q99618 CDCA3_HUMAN cell division cycle associated 3 93 F-box-like. cell division|mitosis cytosol 0 ATACTTCACTCAGCTGTTTCA 0.463 NaN 0 0 0 0.014323 0 23 119 C1S 716 broad.mit.edu 37 12 7177163 7177163 + Nonsense_Mutation SNP T T A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr12:7177163T>A uc001qsj.2 + 15 1994 c.1275T>A c.(1273-1275)TGT>TGA p.C425* C1S_uc001qsk.2_Nonsense_Mutation_p.C425*|C1S_uc001qsl.2_Nonsense_Mutation_p.C425*|C1S_uc009zfr.2_Nonsense_Mutation_p.C258*|C1S_uc009zfs.2_RNA NM_201442 NP_958850 P09871 C1S_HUMAN complement component 1, s subcomponent 425 complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity skin(1) 1 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) TCCTAGTCTGTGGAGTCCCCA 0.443 NaN 0 0 0 0.00278 0 22 128 CSDA 8531 broad.mit.edu 37 12 10854593 10854593 + Missense_Mutation SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr12:10854593C>T uc001qyt.2 - 8 1262 c.1019G>A c.(1018-1020)CGT>CAT p.R340H CSDA_uc001qyu.2_Missense_Mutation_p.R271H NM_003651 NP_003642 P16989 DBPA_HUMAN cold shock domain protein A isoform a 340 negative regulation of transcription from RNA polymerase II promoter|response to cold cytoplasm|nucleus double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(2)|lung(1)|large_intestine(1) 4 Glioma(1;0.155) GTTAGGAGGACGCGGGCGACG 0.517 NaN 0 0 0 0.01441 0 111 194 C12orf35 55196 broad.mit.edu 37 12 32136551 32136551 + Missense_Mutation SNP G G C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr12:32136551G>C uc001rks.2 + 4 3076 c.2662G>C c.(2662-2664)GAT>CAT p.D888H NM_018169 NP_060639 Q9HCM1 CL035_HUMAN hypothetical protein LOC55196 888 ovary(1)|skin(1) 2 all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0114) TGTGAGTAGTGATACATTACA 0.373 NaN 0 0 0 0.00623 0 40 56 PKP2 5318 broad.mit.edu 37 12 32955491 32955491 + Splice_Site SNP C C A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr12:32955491C>A uc001rlj.3 - 11 2261 c.2146_splice c.e11-1 p.M716_splice PKP2_uc001rlk.3_Splice_Site_p.M672_splice|PKP2_uc010skj.1_Splice_Site_p.M669_splice NM_004572 NP_004563 Q99959 PKP2_HUMAN plakophilin 2 isoform 2b cell-cell adhesion desmosome|integral to membrane|nucleus binding ovary(1)|pancreas(1) 2 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) ATGTCGGCATCTGTTTTGTGA 0.408 NaN 1 0 8.60227e-14 0.004007 9.40874e-14 12 89 TMBIM6 7009 broad.mit.edu 37 12 50149478 50149478 + Missense_Mutation SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr12:50149478C>T uc001rux.2 + 4 358 c.226C>T c.(226-228)CAT>TAT p.H76Y TMBIM6_uc010sml.1_Missense_Mutation_p.H76Y|TMBIM6_uc001ruy.2_Missense_Mutation_p.H134Y|TMBIM6_uc001ruz.2_Missense_Mutation_p.H76Y NM_003217 NP_003208 P55061 BI1_HUMAN testis enhanced gene transcript (BAX inhibitor 76 apoptosis|negative regulation of apoptosis endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus 0 GGCAACACCTCATAGCCATGA 0.433 NaN 0 0 0 0.003954 0 26 182 LIMA1 51474 broad.mit.edu 37 12 50571472 50571472 + Nonsense_Mutation SNP G G C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr12:50571472G>C uc001rwj.3 - 11 1829 c.1655C>G c.(1654-1656)TCA>TGA p.S552* LIMA1_uc001rwg.3_Nonsense_Mutation_p.S250*|LIMA1_uc001rwh.3_Nonsense_Mutation_p.S391*|LIMA1_uc001rwi.3_Nonsense_Mutation_p.S393*|LIMA1_uc001rwk.3_Nonsense_Mutation_p.S553*|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA NM_016357 NP_057441 Q9UHB6 LIMA1_HUMAN LIM domain and actin binding 1 isoform b 552 actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization cytoplasm|focal adhesion|stress fiber actin filament binding|actin monomer binding|zinc ion binding ovary(1) 1 TTTGGGCTTTGACATTTTGAT 0.502 NaN 0 0 0 0.009535 0 31 183 ERBB3 2065 broad.mit.edu 37 12 56482341 56482341 + Missense_Mutation SNP G G T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 G T G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr12:56482341G>T uc001sjh.2 + 8 1082 c.889G>T c.(889-891)GAT>TAT p.D297Y ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.D238Y|ERBB3_uc001sji.2_5'UTR NM_001982 NP_001973 P21860 ERBB3_HUMAN erbB-3 isoform 1 precursor 297 Extracellular (Potential). cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CTTTGTGGTGGATCAAACATC 0.512 NaN 1 0 8.8899e-71 0.01441 9.98331e-71 132 196 GLS2 27165 broad.mit.edu 37 12 56865968 56865968 + Nonsense_Mutation SNP G G C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr12:56865968G>C uc001slj.2 - 16 1802 c.1523C>G c.(1522-1524)TCA>TGA p.S508* GLS2_uc009zos.2_RNA|GLS2_uc001slk.2_Nonsense_Mutation_p.S243*|GLS2_uc009zot.2_Nonsense_Mutation_p.S169* NM_013267 NP_037399 Q9UI32 GLSL_HUMAN glutaminase 2 precursor 508 cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity|protein binding ovary(1)|central_nervous_system(1) 2 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) ATCCATGGCTGACAAGGCAAA 0.502 NaN 0 0 0 0.01441 0 74 111 NUP107 57122 broad.mit.edu 37 12 69127366 69127366 + Nonsense_Mutation SNP G G T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr12:69127366G>T uc001suf.2 + 24 2351 c.2236G>T c.(2236-2238)GAA>TAA p.E746* NUP107_uc001sug.2_Nonsense_Mutation_p.E505*|NUP107_uc010stj.1_Nonsense_Mutation_p.E717* NM_020401 NP_065134 P57740 NU107_HUMAN nucleoporin 107kDa 746 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding skin(1) 1 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) TGCTATCCGAGAACATTTGTG 0.398 NaN 1 0 0.00198382 0.001984 0.0020322 7 121 PPFIA2 8499 broad.mit.edu 37 12 81675058 81675058 + Missense_Mutation SNP T T C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr12:81675058T>C uc001szo.1 - 27 3351 c.3190A>G c.(3190-3192)AAA>GAA p.K1064E PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 963 ovary(3)|lung(2)|pancreas(1) 6 TCCACCATTTTTAAATGGACA 0.323 NaN 0 0 0 0.001168 0 6 16 ACACB 32 broad.mit.edu 37 12 109625935 109625935 + Missense_Mutation SNP C C G TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr12:109625935C>G uc001tob.2 + 13 2231 c.2112C>G c.(2110-2112)TTC>TTG p.F704L ACACB_uc001toc.2_Missense_Mutation_p.F704L NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 704 Biotin carboxylation. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) GGCACTGCTTCTCCTGGGGAG 0.393 NaN 0 0 0 0.012319 0 20 110 GCN1L1 10985 broad.mit.edu 37 12 120565654 120565654 + Silent SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr12:120565654C>T uc001txo.2 - 58 8028 c.8015G>A c.(8014-8016)TGA>TAA p.*2672* NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 2672 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CCAGGCCTCTCATGTCAGGAT 0.542 NaN 0 0 0 0.008361 0 30 232 RSRC2 65117 broad.mit.edu 37 12 123001882 123001882 + Missense_Mutation SNP G G A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr12:123001882G>A uc001ucr.2 - 5 640 c.494C>T c.(493-495)TCG>TTG p.S165L RSRC2_uc001uco.2_5'UTR|RSRC2_uc001ucp.2_Missense_Mutation_p.S106L|RSRC2_uc001ucq.2_5'UTR|RSRC2_uc001ucs.2_5'UTR|RSRC2_uc001uct.2_Missense_Mutation_p.S117L|RSRC2_uc001ucu.2_Missense_Mutation_p.S165L NM_023012 NP_075388 Q7L4I2 RSRC2_HUMAN arginine/serine-rich coiled-coil 2 isoform a 165 Ser-rich. ovary(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201) TCTGGATCTCGATTTCTTCCT 0.517 NaN 0 0 0 0.001855 0 13 115 SNRNP35 11066 broad.mit.edu 37 12 123950235 123950235 + Missense_Mutation SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr12:123950235C>T uc001ufb.1 + 2 264 c.148C>T c.(148-150)CTC>TTC p.L50F SNRNP35_uc010tar.1_Missense_Mutation_p.L55F|SNRNP35_uc009zxz.2_Missense_Mutation_p.L55F|SNRNP35_uc001ufc.1_Intron NM_022717 NP_073208 Q16560 U1SBP_HUMAN small nuclear ribonucleoprotein 35kDa (U11/U12) 50 mRNA processing U12-type spliceosomal complex nucleotide binding|RNA binding 0 AGGAGATCCCCTCCTCACCCT 0.557 NaN 0 0 0 0.006122 0 17 89 DHX37 57647 broad.mit.edu 37 12 125473494 125473494 + Silent SNP G G A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr12:125473494G>A uc001ugy.2 - 1 174 c.75C>T c.(73-75)CCC>CCT p.P25P NM_032656 NP_116045 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 25 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) GGGGCGGCTCGGGGGGGCCCT 0.711 NaN 0 0 0 0.003755 0 29 34 CCNA1 8900 broad.mit.edu 37 13 37012218 37012218 + Missense_Mutation SNP G G A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr13:37012218G>A uc001uvr.3 + 4 909 c.559G>A c.(559-561)GTA>ATA p.V187I CCNA1_uc010teo.1_Missense_Mutation_p.V143I|CCNA1_uc010abq.2_Missense_Mutation_p.V143I|CCNA1_uc010abp.2_Missense_Mutation_p.V143I|CCNA1_uc001uvs.3_Missense_Mutation_p.V186I|CCNA1_uc010abr.2_Intron NM_003914 NP_003905 P78396 CCNA1_HUMAN cyclin A1 isoform a 187 cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding lung(2)|skin(2)|ovary(1) 5 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) CCCTATGCTGGTAGATTCATC 0.383 NaN 0 0 0 0.003755 0 36 53 OR4K5 79317 broad.mit.edu 37 14 20389081 20389081 + Missense_Mutation SNP C C A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr14:20389081C>A uc010tkw.1 + 1 316 c.316C>A c.(316-318)CTT>ATT p.L106I NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, 106 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTTTATTCACCTTTTTACTGG 0.433 NaN 1 0 1.99824e-07 0.00499 2.10869e-07 18 44 DHRS4L1 728635 broad.mit.edu 37 14 24520155 24520155 + Missense_Mutation SNP G G C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr14:24520155G>C uc010alc.2 + 10 824 c.824G>C c.(823-825)GGA>GCA p.G275A DHRS4L1_uc010tnu.1_RNA|LRRC16B_uc001wlj.2_5'Flank NM_001082488 NP_001075957 P0CG22 DR4L1_HUMAN dehydrogenase/reductase (SDR family) member 4 275 binding|oxidoreductase activity 0 ATGGTGGGTGGAGGAACCCCG 0.597 NaN 0 0 0 0.006214 0 8 22 SEC23A 10484 broad.mit.edu 37 14 39545169 39545169 + Missense_Mutation SNP G G C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr14:39545169G>C uc001wup.1 - 8 1180 c.957C>G c.(955-957)GAC>GAG p.D319E SEC23A_uc010tqa.1_Missense_Mutation_p.D181E|SEC23A_uc010tqb.1_Missense_Mutation_p.D290E|SEC23A_uc010tqc.1_Missense_Mutation_p.D181E NM_006364 NP_006355 Q15436 SC23A_HUMAN SEC23-related protein A 319 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane protein binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1) 5 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0151) ATTTGGCATTGTCTTTGTCAA 0.383 NaN 0 0 0 0.000602 0 5 18 AHNAK2 113146 broad.mit.edu 37 14 105409421 105409421 + Missense_Mutation SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr14:105409421C>T uc010axc.1 - 7 12487 c.12367G>A c.(12367-12369)GAC>AAC p.D4123N AHNAK2_uc001ypx.2_Missense_Mutation_p.D4023N NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4123 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) ACATCCTTGTCGGCCAGGGAC 0.587 NaN 0 0 0 0.01441 0 96 250 MAGEL2 54551 broad.mit.edu 37 15 23889145 23889145 + Missense_Mutation SNP G G C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr15:23889145G>C uc001ywj.3 - 1 2031 c.1936C>G c.(1936-1938)CGC>GGC p.R646G NM_019066 NP_061939 MAGE-like protein 2 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) ACCTATTAGCGGGGAGGGGGC 0.577 NaN 0 0 0 0.00308 0 8 16 MAGEL2 54551 broad.mit.edu 37 15 23890799 23890799 + Silent SNP G G C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr15:23890799G>C uc001ywj.3 - 1 377 c.282C>G c.(280-282)CCC>CCG p.P94P NM_019066 NP_061939 MAGE-like protein 2 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) CCGGGGGTCCGGGCTGGGCCT 0.652 NaN 0 0 0 0.000602 0 5 16 PLA2G4F 255189 broad.mit.edu 37 15 42439886 42439886 + Silent SNP C C A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr15:42439886C>A uc001zoz.2 - 12 1197 c.1134G>T c.(1132-1134)GGG>GGT p.G378G PLA2G4F_uc010bcq.2_5'Flank|PLA2G4F_uc001zoy.2_Silent_p.G10G|PLA2G4F_uc010bcr.2_Silent_p.G129G|PLA2G4F_uc001zpa.2_Silent_p.G129G|PLA2G4F_uc010bcs.2_Silent_p.G165G NM_213600 NP_998765 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 378 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity ovary(4) 4 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) GCTCCTGCAACCCTGCCAGGC 0.577 NaN 1 0 1.88708e-17 0.008361 2.08572e-17 30 83 C15orf43 145645 broad.mit.edu 37 15 45270712 45270712 + Missense_Mutation SNP G G C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr15:45270712G>C uc001zuk.2 + 7 566 c.549G>C c.(547-549)AAG>AAC p.K183N NM_152448 NP_689661 Q8NHR7 CO043_HUMAN hypothetical protein LOC145645 183 0 all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192) all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06) ATGCCATGAAGAAATTCCTTG 0.294 NaN 0 0 0 0.001984 0 7 20 DUOX1 53905 broad.mit.edu 37 15 45454121 45454121 + Missense_Mutation SNP G G C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr15:45454121G>C uc001zus.1 + 31 4388 c.4042G>C c.(4042-4044)GAG>CAG p.E1348Q DUOX1_uc001zut.1_Missense_Mutation_p.E1348Q|DUOX1_uc010bee.1_Missense_Mutation_p.E728Q NM_017434 NP_059130 Q9NRD9 DUOX1_HUMAN dual oxidase 1 precursor 1348 Cytoplasmic (Potential).|FAD-binding FR-type. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity ovary(5)|skin(2)|breast(1) 8 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) TCGCCTCAGGGAGATCTACTC 0.617 NaN 0 0 0 0.00308 0 8 22 PRTG 283659 broad.mit.edu 37 15 55919293 55919293 + Nonsense_Mutation SNP G G C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr15:55919293G>C uc002adg.2 - 17 2888 c.2840C>G c.(2839-2841)TCA>TGA p.S947* NM_173814 NP_776175 Q2VWP7 PRTG_HUMAN protogenin precursor 947 multicellular organismal development integral to membrane large_intestine(1)|ovary(1)|skin(1) 3 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) GCCAGTCATTGATTTTTGGTC 0.358 NaN 0 0 0 0.000602 0 5 31 CLPX 10845 broad.mit.edu 37 15 65447318 65447318 + Silent SNP G G A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr15:65447318G>A uc002aom.2 - 11 1485 c.1413C>T c.(1411-1413)GAC>GAT p.D471D CLPX_uc010uiu.1_RNA NM_006660 NP_006651 O76031 CLPX_HUMAN ClpX caseinolytic protease X homolog precursor 471 protein folding|proteolysis involved in cellular protein catabolic process mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding 0 TTTCTTCAATGTCTTGGTGAG 0.473 NaN 0 0 0 0.00245 0 15 24 KIAA1024 23251 broad.mit.edu 37 15 79749968 79749968 + Silent SNP T T C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr15:79749968T>C uc002bew.1 + 2 1554 c.1479T>C c.(1477-1479)TCT>TCC p.S493S KIAA1024_uc010unk.1_Silent_p.S493S NM_015206 NP_056021 Q9UPX6 K1024_HUMAN hypothetical protein LOC23251 493 integral to membrane pancreas(2)|ovary(1)|central_nervous_system(1) 4 TGTGCACCTCTGGTCAGGGCA 0.532 NaN 0 0 0 0.004482 0 8 26 KIAA1199 57214 broad.mit.edu 37 15 81199027 81199027 + Missense_Mutation SNP G G C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr15:81199027G>C uc002bfw.1 + 12 1695 c.1435G>C c.(1435-1437)GGG>CGG p.G479R KIAA1199_uc010unn.1_Missense_Mutation_p.G479R NM_018689 NP_061159 Q8WUJ3 K1199_HUMAN KIAA1199 precursor 479 upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 CCTGCACATCGGGGAGGAGAT 0.582 NaN 0 0 0 0.004656 0 21 53 WDR93 56964 broad.mit.edu 37 15 90272286 90272286 + Missense_Mutation SNP G G A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr15:90272286G>A uc002boj.2 + 10 1186 c.1085G>A c.(1084-1086)TGC>TAC p.C362Y WDR93_uc010bnr.2_Missense_Mutation_p.C362Y|WDR93_uc010upz.1_Missense_Mutation_p.C79Y NM_020212 NP_064597 Q6P2C0 WDR93_HUMAN WD repeat domain 93 362 electron transport chain mitochondrial inner membrane oxidoreductase activity, acting on NADH or NADPH ovary(2) 2 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) CTTCCTAGCTGCCTATTTGCA 0.537 NaN 0 0 0 0.010818 0 29 76 IQGAP1 8826 broad.mit.edu 37 15 90972827 90972827 + Missense_Mutation SNP G G A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr15:90972827G>A uc002bpl.1 + 4 420 c.319G>A c.(319-321)GGC>AGC p.G107S NM_003870 NP_003861 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 107 CH. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1) 8 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) CTAGGCGACTGGCCTCCACTT 0.353 NaN 0 0 0 0.00499 0 15 30 BAIAP3 8938 broad.mit.edu 37 16 1388576 1388576 + Missense_Mutation SNP G G A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr16:1388576G>A uc002clk.1 + 2 131 c.131G>A c.(130-132)AGC>AAC p.S44N BAIAP3_uc002clj.2_Missense_Mutation_p.S9N|BAIAP3_uc010uuz.1_Missense_Mutation_p.S9N|BAIAP3_uc010uva.1_Missense_Mutation_p.S9N|BAIAP3_uc010uvb.1_Missense_Mutation_p.S44N|BAIAP3_uc010uvc.1_Missense_Mutation_p.S9N NM_003933 NP_003924 O94812 BAIP3_HUMAN BAI1-associated protein 3 44 G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding pancreas(1) 1 Hepatocellular(780;0.0893) GACATTAAGAGCAGCGTGCTC 0.672 NaN 0 0 0 0.007291 0 27 5 ZNF263 10127 broad.mit.edu 37 16 3339613 3339613 + Silent SNP G G A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr16:3339613G>A uc002cuq.2 + 6 1439 c.1107G>A c.(1105-1107)CCG>CCA p.P369P ZNF263_uc010uww.1_Silent_p.P17P|ZNF263_uc002cur.2_Silent_p.P17P NM_005741 NP_005732 O14978 ZN263_HUMAN zinc finger protein 263 369 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(3)|ovary(1) 4 TGGGGCGACCGAAGGAACTGC 0.537 NaN 0 0 0 0.007413 0 20 33 TEKT5 146279 broad.mit.edu 37 16 10775971 10775971 + Missense_Mutation SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr16:10775971C>T uc002czz.1 - 4 814 c.742G>A c.(742-744)GTG>ATG p.V248M NM_144674 NP_653275 Q96M29 TEKT5_HUMAN tektin 5 248 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(2) 2 CTCTCCAGCACGTGCTGAGCA 0.552 NaN 0 0 0 0.01441 0 70 84 HEATR3 55027 broad.mit.edu 37 16 50109505 50109505 + Missense_Mutation SNP G G A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr16:50109505G>A uc002efw.2 + 6 808 c.646G>A c.(646-648)GAG>AAG p.E216K HEATR3_uc002efx.2_Missense_Mutation_p.E130K NM_182922 NP_891552 Q7Z4Q2 HEAT3_HUMAN HEAT repeat containing 3 216 binding ovary(1)|skin(1) 2 GACAGTGACTGAGGATAACCC 0.383 NaN 0 0 0 0.008871 0 19 34 DYNC1LI2 1783 broad.mit.edu 37 16 66757722 66757722 + Missense_Mutation SNP T T C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr16:66757722T>C uc002eqb.1 - 13 1413 c.1382A>G c.(1381-1383)CAA>CGA p.Q461R DYNC1LI2_uc010vis.1_Missense_Mutation_p.Q384R NM_006141 NP_006132 O43237 DC1L2_HUMAN dynein, cytoplasmic, light intermediate 461 transport centrosome|cytoplasmic dynein complex|microtubule ATP binding|motor activity central_nervous_system(3)|skin(1) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212) CACAGTCTTTTGTCCTGAAAA 0.333 NaN 0 0 0 0.003163 0 14 26 FBXO31 79791 broad.mit.edu 37 16 87364973 87364973 + Missense_Mutation SNP G G A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr16:87364973G>A uc002fjw.2 - 9 1585 c.1541C>T c.(1540-1542)GCC>GTC p.A514V FBXO31_uc010vot.1_Missense_Mutation_p.A342V|FBXO31_uc002fjv.2_Missense_Mutation_p.A406V NM_024735 NP_079011 Q5XUX0 FBX31_HUMAN F-box protein 31 514 cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process SCF ubiquitin ligase complex cyclin binding lung(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0272) CCGGAAGGTGGCCTGGACCCG 0.617 NaN 0 0 0 0.004482 0 8 21 C16orf55 124045 broad.mit.edu 37 16 89724678 89724678 + Silent SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr16:89724678C>T uc002fnw.1 + 2 57 c.57C>T c.(55-57)TCC>TCT p.S19S CHMP1A_uc002fnu.2_5'Flank|CHMP1A_uc002fnv.2_5'Flank|C16orf55_uc002fnx.3_Silent_p.S20S|C16orf55_uc010vpk.1_Silent_p.S20S|C16orf55_uc002fny.1_Intron NM_153025 NP_694570 Q96N06 CP055_HUMAN hypothetical protein LOC124045 19 0 all_lung(18;0.000665)|all_hematologic(23;0.0355) BRCA - Breast invasive adenocarcinoma(80;0.0274) AGAAGGGATCCACCTATTCAG 0.532 NaN 0 0 0 0.008291 0 10 37 DNAH9 1770 broad.mit.edu 37 17 11648245 11648245 + Silent SNP G G A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr17:11648245G>A uc002gne.2 + 31 6311 c.6243G>A c.(6241-6243)AAG>AAA p.K2081K DNAH9_uc010coo.2_Silent_p.K1375K NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 2081 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) ACATCCCCAAGATTGTGACTG 0.597 NaN 0 0 0 0.004482 0 8 6 KIAA0100 9703 broad.mit.edu 37 17 26945872 26945872 + Silent SNP C C G TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr17:26945872C>G uc002hbu.2 - 32 5859 c.5760G>C c.(5758-5760)CTG>CTC p.L1920L KIAA0100_uc002hbt.2_Silent_p.L249L NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 1920 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) CTTCCTCTGTCAGGCGCCACC 0.512 NaN 0 0 0 0.001984 0 7 114 ACBD4 79777 broad.mit.edu 37 17 43215296 43215296 + Missense_Mutation SNP G G A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr17:43215296G>A uc002iid.2 + 8 924 c.580G>A c.(580-582)GGG>AGG p.G194R ACBD4_uc010wjj.1_Missense_Mutation_p.G210R|ACBD4_uc002iie.2_Missense_Mutation_p.G210R|ACBD4_uc002iif.2_Missense_Mutation_p.R197Q|ACBD4_uc002iic.2_Missense_Mutation_p.R197Q|ACBD4_uc010dae.2_Missense_Mutation_p.G132R NM_001135707 NP_001129179 Q8NC06 ACBD4_HUMAN acyl-Coenzyme A binding domain containing 4 194 fatty-acyl-CoA binding ovary(1)|kidney(1) 2 ACAGAGCAGCGGGCAGCATCT 0.607 NaN 0 0 0 0.001984 0 6 51 SLC16A6 9120 broad.mit.edu 37 17 66270122 66270122 + Missense_Mutation SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr17:66270122C>T uc002jgz.1 - 3 510 c.322G>A c.(322-324)GCC>ACC p.A108T ARSG_uc002jhc.2_Intron|SLC16A6_uc002jha.1_Missense_Mutation_p.A108T NM_004694 NP_004685 O15403 MOT7_HUMAN solute carrier family 16, member 6 108 Helical; (Potential). integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity 0 all_cancers(12;1.24e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) Pyruvic acid(DB00119) GAGAAGGAGGCGGCCACCATC 0.542 NaN 0 0 0 0.004482 0 9 41 SOX9 6662 broad.mit.edu 37 17 70119895 70119895 + Silent SNP G G A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr17:70119895G>A uc002jiw.2 + 3 1269 c.897G>A c.(895-897)CCG>CCA p.P299P uc002jiv.2_5'Flank NM_000346 NP_000337 P48436 SOX9_HUMAN transcription factor SOX9 299 cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction nucleus|protein complex core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription 0 Colorectal(1115;0.245) STAD - Stomach adenocarcinoma(260;0.119) AGTACCTGCCGCCCAACGGCC 0.682 NaN 0 0 0 0.003163 0 13 61 GALR2 8811 broad.mit.edu 37 17 74073059 74073059 + Missense_Mutation SNP G G A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr17:74073059G>A uc002jqm.1 + 2 792 c.711G>A c.(709-711)ATG>ATA p.M237I ZACN_uc002jqn.2_5'Flank|ZACN_uc002jqo.2_5'Flank|ZACN_uc010dgu.2_5'Flank NM_003857 NP_003848 O43603 GALR2_HUMAN galanin receptor 2 237 Cytoplasmic (Potential). digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction integral to membrane|plasma membrane galanin receptor activity 0 TGACACGCATGATCCTCATCG 0.706 NaN 0 0 0 0.005443 0 26 20 DENND1C 79958 broad.mit.edu 37 19 6468350 6468350 + Missense_Mutation SNP C C G TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr19:6468350C>G uc002mfe.2 - 22 1778 c.1686G>C c.(1684-1686)GAG>GAC p.E562D DENND1C_uc002mfb.2_Missense_Mutation_p.E112D|DENND1C_uc002mfc.2_Missense_Mutation_p.E112D|DENND1C_uc002mfd.2_Missense_Mutation_p.E112D|DENND1C_uc010xje.1_Missense_Mutation_p.E518D NM_024898 NP_079174 Q8IV53 DEN1C_HUMAN DENN/MADD domain containing 1C 562 clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity large_intestine(1) 1 TGTCCAGAATCTCGCTCAACA 0.577 NaN 0 0 0 0.00308 0 7 14 TYK2 7297 broad.mit.edu 37 19 10477209 10477209 + Silent SNP C C T rs55988893 TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr19:10477209C>T uc002moc.3 - 6 891 c.513G>A c.(511-513)TCG>TCA p.S171S TYK2_uc010dxe.2_5'UTR|TYK2_uc002mod.2_Silent_p.S171S NM_003331 NP_003322 P29597 TYK2_HUMAN tyrosine kinase 2 171 FERM. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity lung(5)|large_intestine(2)|ovary(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) CCTCCTCGGTCGACAGCTCCC 0.557 NaN 0 0 0 0.01441 0 40 141 S1PR5 53637 broad.mit.edu 37 19 10624779 10624779 + Silent SNP G G A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr19:10624779G>A uc002mot.1 - 2 966 c.909C>T c.(907-909)CCC>CCT p.P303P S1PR5_uc002mou.1_Silent_p.P303P NM_030760 NP_110387 Q9H228 S1PR5_HUMAN endothelial differentiation, sphingolipid 303 Helical; Name=7; (By similarity). integral to membrane|plasma membrane lysosphingolipid and lysophosphatidic acid receptor activity central_nervous_system(1)|pancreas(1) 2 TGTAGATGATGGGGTTCAGAA 0.672 NaN 0 0 0 0.010729 0 11 35 CARM1 10498 broad.mit.edu 37 19 11031350 11031350 + Silent SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr19:11031350C>T uc002mpz.2 + 12 1476 c.1350C>T c.(1348-1350)ATC>ATT p.I450I CARM1_uc010dxn.2_RNA|CARM1_uc002mqa.2_Silent_p.I233I NM_199141 NP_954592 Q86X55 CARM1_HUMAN coactivator-associated arginine 450 cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding 0 GCTACGACATCAGTATTGTGG 0.622 NaN 0 0 0 0.010504 0 19 62 RGL3 57139 broad.mit.edu 37 19 11526625 11526625 + Nonsense_Mutation SNP G G A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr19:11526625G>A uc002mrp.2 - 5 689 c.625C>T c.(625-627)CAG>TAG p.Q209* RGL3_uc002mrn.2_5'UTR|RGL3_uc002mrm.2_5'UTR|RGL3_uc002mro.2_Nonsense_Mutation_p.Q209* NM_001035223 NP_001030300 Q3MIN7 RGL3_HUMAN ral guanine nucleotide dissociation 209 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular ovary(1) 1 GTCCACACCTGAGGCGGCTCC 0.572 NaN 0 0 0 0.01441 0 116 162 ZNF20 7568 broad.mit.edu 37 19 12243475 12243475 + Missense_Mutation SNP T T C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr19:12243475T>C uc002mtf.1 - 4 1669 c.1526A>G c.(1525-1527)AAG>AGG p.K509R ZNF20_uc002mte.1_Missense_Mutation_p.K474R|ZNF20_uc002mtg.1_Missense_Mutation_p.K509R NM_021143 NP_066966 P17024 ZNF20_HUMAN zinc finger protein 20 509 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GCCACATTGCTTGCATTGATA 0.403 NaN 0 0 0 0.01441 0 98 121 COMP 1311 broad.mit.edu 37 19 18896513 18896513 + Silent SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr19:18896513C>T uc002nke.2 - 14 1674 c.1638G>A c.(1636-1638)CAG>CAA p.Q546Q COMP_uc002nkd.2_Silent_p.Q513Q|COMP_uc010xqj.1_Silent_p.Q493Q NM_000095 NP_000086 P49747 COMP_HUMAN cartilage oligomeric matrix protein precursor 546 Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal. anti-apoptosis|apoptosis|cell adhesion|limb development extracellular space|proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding 0 TGGGGTCAATCTGCGCGTCAC 0.622 NaN 0 0 0 0.006214 0 9 58 PRX 57716 broad.mit.edu 37 19 40909734 40909734 + Silent SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr19:40909734C>T uc002onr.2 - 5 332 c.63G>A c.(61-63)GTG>GTA p.V21V PRX_uc002onq.2_5'UTR|PRX_uc002ons.2_Silent_p.V21V NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN periaxin isoform 2 21 PDZ. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding ovary(2) 2 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) CCTCCGTCTCCACGATAATTT 0.682 NaN 0 0 0 0.004672 0 3 11 KLK15 55554 broad.mit.edu 37 19 51329977 51329977 + Missense_Mutation SNP C C G TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr19:51329977C>G uc002ptl.2 - 4 549 c.518G>C c.(517-519)AGC>ACC p.S173T KLK1_uc002ptk.1_5'Flank|KLK1_uc010ycg.1_5'Flank|KLK15_uc002ptm.2_Intron|KLK15_uc002ptn.2_Intron|KLK15_uc002pto.2_Missense_Mutation_p.S172T|KLK15_uc010ych.1_RNA|KLK15_uc010yci.1_Intron|KLK15_uc010eod.2_Intron NM_017509 NP_059979 Q9H2R5 KLK15_HUMAN kallikrein-related peptidase 15 isoform 4 173 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity lung(1)|breast(1) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143) CGAGATAATGCTGATGTTGGC 0.562 NaN 0 0 0 0.005443 0 25 145 NLRP7 199713 broad.mit.edu 37 19 55450851 55450851 + Missense_Mutation SNP G G A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr19:55450851G>A uc002qih.3 - 4 1412 c.1336C>T c.(1336-1338)CGT>TGT p.R446C NLRP7_uc002qig.3_Missense_Mutation_p.R446C|NLRP7_uc002qii.3_Missense_Mutation_p.R446C|NLRP7_uc010esk.2_Missense_Mutation_p.R446C|NLRP7_uc010esl.2_Missense_Mutation_p.R474C NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 446 NACHT. ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) AGGAACAGACGGAGGTCGGAC 0.632 NaN 0 0 0 0.012319 0 20 57 NLRP13 126204 broad.mit.edu 37 19 56424636 56424636 + Missense_Mutation SNP T T A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr19:56424636T>A uc010ygg.1 - 5 572 c.547A>T c.(547-549)AAC>TAC p.N183Y NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 183 ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) GCCTTCATGTTCTCTCTGTAT 0.418 NaN 0 0 0 0.003163 0 13 84 SRBD1 55133 broad.mit.edu 37 2 45789849 45789849 + Missense_Mutation SNP T T A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr2:45789849T>A uc002rus.2 - 10 1428 c.1352A>T c.(1351-1353)AAG>ATG p.K451M SRBD1_uc010yoc.1_Translation_Start_Site NM_018079 NP_060549 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 451 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding central_nervous_system(1) 1 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) AATATTGACCTTAACCGTCAG 0.343 NaN 0 0 0 0.00499 0 16 85 FAM123C 205147 broad.mit.edu 37 2 131520501 131520501 + Missense_Mutation SNP G G A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr2:131520501G>A uc002trw.2 + 2 1046 c.856G>A c.(856-858)GGC>AGC p.G286S FAM123C_uc010fmv.2_Missense_Mutation_p.G286S|FAM123C_uc010fms.1_Missense_Mutation_p.G286S|FAM123C_uc010fmt.1_Missense_Mutation_p.G286S|FAM123C_uc010fmu.1_Missense_Mutation_p.G286S NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 286 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) GGTTCCCAGGGGCCCTCTCCA 0.637 NaN 0 0 0 0.001855 0 13 40 PDE11A 50940 broad.mit.edu 37 2 178936789 178936789 + Missense_Mutation SNP C C G TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr2:178936789C>G uc002ulq.2 - 1 694 c.376G>C c.(376-378)GCC>CCC p.A126P PDE11A_uc002ulr.2_Intron|PDE11A_uc002ult.1_Intron NM_016953 NP_058649 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A isoform 4 126 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(3)|large_intestine(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) TTGGAGCGGGCAAAACTCTTC 0.612 NaN Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial 0 0 0 0.000602 0 4 79 TTN 7273 broad.mit.edu 37 2 179457374 179457374 + Silent SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr2:179457374C>T uc010zfg.1 - 250 51878 c.51654G>A c.(51652-51654)TTG>TTA p.L17218L uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L10913L|TTN_uc010zfi.1_Silent_p.L10846L|TTN_uc010zfj.1_Silent_p.L10721L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 18145 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CATCAAGAATCAACTCAGGGG 0.373 NaN 0 0 0 0.001168 0 6 8 ZNF804A 91752 broad.mit.edu 37 2 185803315 185803315 + Silent SNP G G A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr2:185803315G>A uc002uph.2 + 4 3786 c.3192G>A c.(3190-3192)AAG>AAA p.K1064K NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 1064 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 TGGCCAACAAGGTTAAATTTA 0.468 NaN 0 0 0 0.004007 0 16 31 ESPNL 339768 broad.mit.edu 37 2 239013413 239013413 + Missense_Mutation SNP G G C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr2:239013413G>C uc002vxq.3 + 3 712 c.602G>C c.(601-603)CGT>CCT p.R201P NM_194312 NP_919288 Q6ZVH7 ESPNL_HUMAN espin-like 201 pancreas(1) 1 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) GTGCACCTTCGTGCTCTCGAT 0.677 NaN 0 0 0 0.001984 0 7 7 PASK 23178 broad.mit.edu 37 2 242046892 242046892 + Silent SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr2:242046892C>T uc002wao.1 - 17 3782 c.3690G>A c.(3688-3690)GGG>GGA p.G1230G PASK_uc010zol.1_Silent_p.G1044G|PASK_uc010zom.1_Silent_p.G1195G|PASK_uc010fzl.1_Silent_p.G1237G|PASK_uc010zon.1_Silent_p.G1011G NM_015148 NP_055963 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 1230 Protein kinase. regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity ovary(4)|lung(1)|skin(1) 6 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) GCTGCAGCAGCCCAGACACAA 0.542 NaN 0 0 0 0.004656 0 25 54 HCK 3055 broad.mit.edu 37 20 30674544 30674544 + Silent SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr20:30674544C>T uc002wxh.2 + 9 1120 c.949C>T c.(949-951)CTG>TTG p.L317L HCK_uc010gdy.2_Silent_p.L296L|HCK_uc002wxi.2_Silent_p.L295L NM_002110 NP_002101 P08631 HCK_HUMAN hemopoietic cell kinase isoform p61HCK 317 Protein kinase. interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1) 9 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GCATGACAAGCTGGTCAAACT 0.582 NaN 0 0 0 0.01441 0 75 15 GGT7 2686 broad.mit.edu 37 20 33442618 33442618 + Missense_Mutation SNP G G A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr20:33442618G>A uc002xay.2 - 9 1254 c.1211C>T c.(1210-1212)GCT>GTT p.A404V GGT7_uc002xaz.1_Missense_Mutation_p.A421V NM_178026 NP_821158 Q9UJ14 GGT7_HUMAN gamma-glutamyltransferase 7 404 Extracellular (Potential). glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity ovary(1) 1 CCAGTGAAGAGCCTGTTCTCG 0.567 NaN 0 0 0 0.00308 0 7 94 SERINC3 10955 broad.mit.edu 37 20 43133481 43133481 + Missense_Mutation SNP T T C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr20:43133481T>C uc002xme.2 - 7 969 c.835A>G c.(835-837)ACT>GCT p.T279A SERINC3_uc002xmf.1_Missense_Mutation_p.T279A|SERINC3_uc010ggs.1_Missense_Mutation_p.T272A|SERINC3_uc010zwp.1_Missense_Mutation_p.T224A NM_198941 NP_945179 Q13530 SERC3_HUMAN tumor differentially expressed protein 1 279 Cytoplasmic (Potential). integral to membrane|plasma membrane protein binding skin(3) 3 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189) AGGTACATAGTGTAGAGGGTG 0.478 NaN 0 0 0 0.00308 0 7 49 MATN4 8785 broad.mit.edu 37 20 43929794 43929794 + Silent SNP C C A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr20:43929794C>A uc002xnn.2 - 5 1024 c.837G>T c.(835-837)CGG>CGT p.R279R MATN4_uc002xno.2_Silent_p.R238R|MATN4_uc002xnp.2_Intron|MATN4_uc010zwr.1_Silent_p.R227R|MATN4_uc002xnr.1_Silent_p.R279R NM_003833 NP_003824 O95460 MATN4_HUMAN matrilin 4 isoform 1 precursor 320 EGF-like 3. extracellular region protein binding 0 Myeloproliferative disorder(115;0.0122) TGCAGTGGCACCGTGGCCCAC 0.557 NaN OREG0025977 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 1.49906e-05 0.00245 1.55075e-05 14 94 CEBPB 1051 broad.mit.edu 37 20 48807640 48807640 + Missense_Mutation SNP A A G TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr20:48807640A>G uc002xvi.1 + 1 265 c.70A>G c.(70-72)ATG>GTG p.M24V CEBPB_uc002xvh.2_RNA NM_005194 NP_005185 P17676 CEBPB_HUMAN CCAAT/enhancer binding protein beta 24 Required for Lys-174 sumoylation. acute-phase response|immune response sequence-specific enhancer binding RNA polymerase II transcription factor activity 0 BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19) CTTTAAATCCATGGAAGTGGC 0.537 NaN 0 0 0 0.009096 0 3 26 LSM14B 149986 broad.mit.edu 37 20 60706547 60706547 + Missense_Mutation SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr20:60706547C>T uc010gjy.1 + 7 1177 c.971C>T c.(970-972)TCT>TTT p.S324F LSM14B_uc002ybv.2_Missense_Mutation_p.S298F|LSM14B_uc010zzz.1_Missense_Mutation_p.S244F NM_144703 NP_653304 Q9BX40 LS14B_HUMAN LSM14 homolog B 324 FFD box. multicellular organismal development|regulation of translation ribonucleoprotein complex 0 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.28e-07) AACATCTCTTCTGAACTCAAG 0.552 NaN 0 0 0 0.009096 0 3 39 COL9A3 1299 broad.mit.edu 37 20 61458604 61458604 + Silent SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr20:61458604C>T uc002ydm.2 + 16 807 c.804C>T c.(802-804)GGC>GGT p.G268G NM_001853 NP_001844 Q14050 CO9A3_HUMAN alpha 3 type IX collagen precursor 268 Triple-helical region 3 (COL3). axon guidance collagen type IX 0 Breast(26;5.68e-08) GTGACCGAGGCGAGAGGGGCC 0.632 NaN 0 0 0 0.004482 0 8 56 RWDD2B 10069 broad.mit.edu 37 21 30380277 30380277 + Missense_Mutation SNP C C A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr21:30380277C>A uc002yms.2 - 4 617 c.530G>T c.(529-531)GGA>GTA p.G177V RWDD2B_uc002ymt.2_Missense_Mutation_p.G148V|RWDD2B_uc002ymu.2_RNA|RWDD2B_uc002ymv.2_Missense_Mutation_p.G97V NM_016940 NP_058636 P57060 RWD2B_HUMAN RWD domain containing 2B 177 0 GACTGTGCTTCCTGTGGTGGG 0.443 NaN 1 0 2.21704e-12 0.00278 2.41232e-12 23 64 KRTAP10-2 386679 broad.mit.edu 37 21 45971299 45971299 + Missense_Mutation SNP T T C rs233240 by1000genomes TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr21:45971299T>C uc002zfi.1 - 1 90 c.43A>G c.(43-45)AAC>GAC p.N15D C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198693 NP_941966 P60368 KR102_HUMAN keratin associated protein 10-2 15 keratin filament p.N15D(1) large_intestine(1) 1 TGCCAGGAGTTGGTGCAGGCG 0.597 NaN 0 0 0 0.001168 0 5 88 ITGB2 3689 broad.mit.edu 37 21 46314945 46314945 + Missense_Mutation SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr21:46314945C>T uc002zgd.2 - 8 1068 c.1024G>A c.(1024-1026)GTG>ATG p.V342M ITGB2_uc002zge.2_Missense_Mutation_p.V342M|ITGB2_uc002zgf.3_Missense_Mutation_p.V342M|ITGB2_uc011afl.1_Missense_Mutation_p.V264M|ITGB2_uc010gpw.2_Missense_Mutation_p.V285M|ITGB2_uc002zgg.2_Missense_Mutation_p.V342M NM_001127491 NP_001120963 P05107 ITB2_HUMAN integrin, beta 2 precursor 342 Extracellular (Potential).|VWFA. apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity ovary(4)|central_nervous_system(3)|breast(2) 9 Colorectal(79;0.0669) Simvastatin(DB00641) AGCTCCCCCACGGCTGACTTG 0.577 NaN 0 0 0 0.006122 0 18 26 SNAP29 9342 broad.mit.edu 37 22 21224644 21224644 + Missense_Mutation SNP G G C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr22:21224644G>C uc011ahw.1 + 2 364 c.257G>C c.(256-258)GGA>GCA p.G86A NM_004782 NP_004773 O95721 SNP29_HUMAN synaptosomal-associated protein 29 86 Potential. cellular membrane fusion|exocytosis|protein transport|vesicle targeting cell junction|cytoplasm|nucleus|synapse|synaptosome SNAP receptor activity 0 all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117) CGTCAGCGAGGAGTCCTGGAG 0.557 NaN 0 0 0 0.008871 0 20 102 SEC14L3 266629 broad.mit.edu 37 22 30858094 30858094 + Silent SNP C C T rs146711095 TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr22:30858094C>T uc003ahy.2 - 9 839 c.750G>A c.(748-750)GGG>GGA p.G250G SEC14L3_uc003ahz.2_Silent_p.G173G|SEC14L3_uc003aia.2_Silent_p.G191G|SEC14L3_uc003aib.2_Silent_p.G191G NM_174975 NP_777635 Q9UDX4 S14L3_HUMAN SEC14-like 3 250 integral to membrane|intracellular lipid binding|transporter activity ovary(3)|pancreas(1)|skin(1) 5 Vitamin E(DB00163) ATTTGGGGTTCCCATCTGGGT 0.483 NaN 0 0 0 0.000602 0 5 34 BRPF1 7862 broad.mit.edu 37 3 9781381 9781381 + Missense_Mutation SNP G G A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr3:9781381G>A uc003bse.2 + 3 1697 c.1298G>A c.(1297-1299)GGC>GAC p.G433D BRPF1_uc003bsf.2_Missense_Mutation_p.G433D|BRPF1_uc003bsg.2_Missense_Mutation_p.G433D|BRPF1_uc011ati.1_Missense_Mutation_p.G433D NM_004634 NP_004625 P55201 BRPF1_HUMAN bromodomain and PHD finger-containing protein 1 433 histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding ovary(2)|central_nervous_system(1) 3 Medulloblastoma(99;0.227) GGCGCCAACGGCACCTCTTTC 0.567 NaN 0 0 0 0.000602 0 5 42 PLCL2 23228 broad.mit.edu 37 3 17052785 17052785 + Silent SNP T T C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr3:17052785T>C uc011awc.1 + 5 2028 c.1923T>C c.(1921-1923)AAT>AAC p.N641N PLCL2_uc011awd.1_Silent_p.N523N NM_001144382 NP_001137854 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 isoform 1 649 PI-PLC Y-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity skin(2)|ovary(1)|lung(1) 4 GTTCCTTTAATGAAGTGCTTG 0.413 NaN 0 0 0 0.00245 0 11 54 CTNNB1 1499 broad.mit.edu 37 3 41266097 41266097 + Missense_Mutation SNP G G C rs28931588 TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 G C G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr3:41266097G>C uc010hia.1 + 4 250 c.94G>C c.(94-96)GAC>CAC p.D32H CTNNB1_uc003ckp.2_Missense_Mutation_p.D32H|CTNNB1_uc003ckq.2_Missense_Mutation_p.D32H|CTNNB1_uc003ckr.2_Missense_Mutation_p.D32H|CTNNB1_uc011azf.1_Missense_Mutation_p.D25H|CTNNB1_uc011azg.1_Intron|uc010hib.1_RNA NM_001904 NP_001895 P35222 CTNB1_HUMAN beta-catenin 32 Missing (in hepatocellular carcinoma).|D -> A (in hepatocellular carcinoma).|D -> G (in PTR and hepatocellular carcinoma). adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.D32Y(110)|p.A5_A80del(63)|p.D32N(58)|p.D32G(53)|p.D32H(37)|p.D32V(20)|p.D32A(12)|p.H24_S47del(9)|p.A5_A80>D(7)|p.A5_Q143del(7)|p.WQQQSYLD25?(5)|p.Q28_H134del(5)|p.W25_D32del(4)|p.W25_I140del(4)|p.S23_S33del(3)|p.V22_G38del(3)|p.T3_A126del(2)|p.M5_N141>D(2)|p.D32E(2)|p.D32_S47del(2)|p.W25_H36del(2)|p.Y30_S33del(2)|p.V22_S33del(2)|p.V22_L139>V(2)|p.A5_Y142>D(2)|p.A5fs*7(2)|p.?(2)|p.L10_N141del(2)|p.D6_A43del(1)|p.E9_S47del(1)|p.Q28_Q61del(1)|p.A20_R151del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S29_H36del(1)|p.Y30_A97del(1)|p.A20_A80del(1)|p.Q28_A43del(1)|p.E15_I140>V(1)|p.D17_P128del(1)|p.H24_M131del(1)|p.L7_I140del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.W25_I35del(1)|p.V22_G80>NNNNN(1)|p.A5_I35del(1)|p.A20_Q143del(1)|p.A13_R151del(1)|p.D32del(1)|p.S23_I140del(1)|p.M1_A87del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.S23_A39del(1)|p.A21_A80del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.E9_A80del(1)|p.M14_S45del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.D32_H36>D(1)|p.P16_K133del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.A5_R90del(1)|p.V22_Y64del(1)|p.M8_A80del(1)|p.E9_I140del(1)|p.D32_S33insS(1)|p.Y30_T40del(1)|p.M1_T42del(1)|p.A5_Q143>E(1)|p.A5_Q72del(1)|p.Q28_D32>H(1)|p.Y30_A80del(1)|p.D32fs*9(1)|p.D6_K133del(1)|p.A5_T42del(1)|p.A5_D144>D(1)|p.A5_T40del(1)|p.D17_A126del(1)|p.A5_E54del(1)|p.S23_I35del(1)|p.V22_S71>A(1)|p.W25_A80del(1)|p.A20_Q72del(1)|p.A20_S111del(1)|p.D32_H36del(1) CTNNB1/PLAG1(60) liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1) 3166 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) GTCTTACCTGGACTCTGGAAT 0.478 D32N(KE39_STOMACH) 15 H|Mis|T PLAG1 colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma Pilomatrixoma_Familial_Clustering_of 0 0 0 0.001168 0 5 26 NKTR 4820 broad.mit.edu 37 3 42678866 42678866 + Missense_Mutation SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr3:42678866C>T uc003clo.2 + 13 1817 c.1670C>T c.(1669-1671)TCT>TTT p.S557F NKTR_uc003clm.1_Missense_Mutation_p.S304F|NKTR_uc003clp.2_Missense_Mutation_p.S304F|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.S447F|NKTR_uc003clr.1_Missense_Mutation_p.S304F|NKTR_uc003cls.2_Missense_Mutation_p.S257F NM_005385 NP_005376 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 557 Arg/Ser-rich. protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.24) AGTTCCAAGTCTGGGCACCGA 0.413 NaN 0 0 0 0.013537 0 12 57 CYP8B1 1582 broad.mit.edu 37 3 42917227 42917227 + Missense_Mutation SNP G G A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr3:42917227G>A uc003cmh.2 - 1 407 c.82C>T c.(82-84)CGC>TGC p.R28C CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Missense_Mutation_p.R28C NM_004391 NP_004382 Q9UNU6 CP8B1_HUMAN cytochrome P450, family 8, subfamily B, 28 bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249) CATGGCCTGCGTTGTCGGAGC 0.582 NaN 0 0 0 0.006214 0 9 64 KIF15 56992 broad.mit.edu 37 3 44867652 44867652 + Missense_Mutation SNP G G C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr3:44867652G>C uc003cnx.3 + 21 2820 c.2671G>C c.(2671-2673)GAA>CAA p.E891Q KIF15_uc010hiq.2_Missense_Mutation_p.E794Q|KIF15_uc010hir.2_5'UTR NM_020242 NP_064627 Q9NS87 KIF15_HUMAN kinesin family member 15 891 Potential. blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) CTTCAAAAAAGAAAATGAAAC 0.259 NaN 0 0 0 0.004656 0 26 42 GNAT1 2779 broad.mit.edu 37 3 50231561 50231561 + Missense_Mutation SNP G G C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr3:50231561G>C uc003cym.2 + 6 731 c.615G>C c.(613-615)AAG>AAC p.K205N GNAT1_uc003cyl.2_Missense_Mutation_p.K205N NM_144499 NP_653082 P11488 GNAT1_HUMAN rod-type transducin alpha subunit 205 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) CGGAGCGCAAGAAGTGGATCC 0.667 NaN 0 0 0 0.004007 0 14 16 BAP1 8314 broad.mit.edu 37 3 52436687 52436687 + Missense_Mutation SNP C C G TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr3:52436687C>G uc003ddx.2 - 16 2102 c.1987G>C c.(1987-1989)GAT>CAT p.D663H BAP1_uc003ddw.2_RNA|BAP1_uc010hmg.2_RNA|BAP1_uc010hmh.2_RNA NM_004656 NP_004647 Q92560 BAP1_HUMAN BRCA1 associated protein-1 663 Interaction with BRCA1. monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|PR-DUB complex chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1) 65 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) CTCTGGTCATCAATCTGTAGG 0.527 NaN N|Mis|F|S|O uveal melanoma|breast|NSCLC 0 0 0 0.012213 0 32 3 BAP1 8314 broad.mit.edu 37 3 52436810 52436810 + Missense_Mutation SNP C C G TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr3:52436810C>G uc003ddx.2 - 15 2083 c.1968G>C c.(1966-1968)AAG>AAC p.K656N BAP1_uc003ddw.2_RNA|BAP1_uc010hmg.2_RNA|BAP1_uc010hmh.2_RNA NM_004656 NP_004647 Q92560 BAP1_HUMAN BRCA1 associated protein-1 656 Potential.|Interaction with BRCA1. KRKKFK->AAAAAA: Does not affect nuclear localization. monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|PR-DUB complex chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1) 65 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) ACTTCTTCCTCTTCTCTACCT 0.557 NaN N|Mis|F|S|O uveal melanoma|breast|NSCLC 0 0 0 0.01441 0 52 13 ADAMTS9 56999 broad.mit.edu 37 3 64666970 64666970 + Missense_Mutation SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr3:64666970C>T uc003dmg.2 - 3 618 c.586G>A c.(586-588)GAT>AAT p.D196N ADAMTS9_uc011bfo.1_Missense_Mutation_p.D196N|ADAMTS9_uc003dmh.1_Missense_Mutation_p.D25N|ADAMTS9_uc003dmk.1_Missense_Mutation_p.D196N NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 196 glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|urinary_tract(1)|skin(1) 4 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TCCTCTTCATCTTCTTGTTCA 0.468 NaN 0 0 0 0.014323 0 24 6 IMPG2 50939 broad.mit.edu 37 3 100963595 100963595 + Missense_Mutation SNP G G C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr3:100963595G>C uc003duq.1 - 13 1783 c.1580C>G c.(1579-1581)TCT>TGT p.S527C IMPG2_uc011bhe.1_Missense_Mutation_p.S390C NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 527 Extracellular (Potential). visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 TGAATCAATAGAAAGAAAATC 0.343 NaN 0 0 0 0.000602 0 5 14 MYLK 4638 broad.mit.edu 37 3 123383093 123383093 + Nonsense_Mutation SNP C C A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr3:123383093C>A uc003ego.2 - 23 4126 c.3844G>T c.(3844-3846)GAG>TAG p.E1282* MYLK_uc010hrr.2_5'UTR|MYLK_uc011bjv.1_Nonsense_Mutation_p.E82*|MYLK_uc011bjw.1_Nonsense_Mutation_p.E1282*|MYLK_uc003egp.2_Nonsense_Mutation_p.E1213*|MYLK_uc003egq.2_Nonsense_Mutation_p.E1282*|MYLK_uc003egr.2_Nonsense_Mutation_p.E1213*|MYLK_uc003egs.2_Nonsense_Mutation_p.E1106* NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 1282 Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TTCATGTGCTCGCTTTCCTGG 0.617 NaN 1 0 3.85864e-22 0.00278 4.28738e-22 25 123 CDV3 55573 broad.mit.edu 37 3 133293897 133293897 + Missense_Mutation SNP G G C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr3:133293897G>C uc003epq.2 + 2 710 c.255G>C c.(253-255)TGG>TGC p.W85C CDV3_uc003epp.3_Missense_Mutation_p.W85C|CDV3_uc003epr.2_5'UTR NM_017548 NP_060018 Q9UKY7 CDV3_HUMAN carnitine deficiency-associated gene expressed 85 cell proliferation cytoplasm 0 AAGATGAATGGAAAGAATTGG 0.368 NaN 0 0 0 0.003954 0 23 46 CDV3 55573 broad.mit.edu 37 3 133293922 133293922 + Missense_Mutation SNP G G C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr3:133293922G>C uc003epq.2 + 2 735 c.280G>C c.(280-282)GAT>CAT p.D94H CDV3_uc003epp.3_Missense_Mutation_p.D94H|CDV3_uc003epr.2_5'UTR NM_017548 NP_060018 Q9UKY7 CDV3_HUMAN carnitine deficiency-associated gene expressed 94 cell proliferation cytoplasm 0 AAAAGAGGTTGATTACAGCGG 0.358 NaN 0 0 0 0.008361 0 27 41 HPS3 84343 broad.mit.edu 37 3 148847538 148847538 + Missense_Mutation SNP T T C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr3:148847538T>C uc003ewu.1 + 1 168 c.28T>C c.(28-30)TTC>CTC p.F10L HPS3_uc003ewt.1_Missense_Mutation_p.F10L|HPS3_uc011bnq.1_Missense_Mutation_p.F10L NM_032383 NP_115759 Q969F9 HPS3_HUMAN Hermansky-Pudlak syndrome 3 protein 10 cytoplasm ovary(5)|large_intestine(1) 6 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) CCTGCACCCGTTCGGGTCGCA 0.721 NaN Hermansky-Pudlak_syndrome 0 0 0 0.006214 0 7 26 PRKG2 5593 broad.mit.edu 37 4 82027076 82027076 + Missense_Mutation SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr4:82027076C>T uc003hmh.2 - 15 1968 c.1954G>A c.(1954-1956)GGG>AGG p.G652R PRKG2_uc011ccf.1_Missense_Mutation_p.G232R|PRKG2_uc011ccg.1_Missense_Mutation_p.G232R|PRKG2_uc011cch.1_Missense_Mutation_p.G623R NM_006259 NP_006250 Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 652 Protein kinase. platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1) 7 TGGTCAACCCCAGAAAAGGGT 0.358 NaN 0 0 0 0.001168 0 5 15 COQ2 27235 broad.mit.edu 37 4 84193256 84193256 + Nonsense_Mutation SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr4:84193256C>T uc003hog.2 - 4 659 c.651G>A c.(649-651)TGG>TGA p.W217* COQ2_uc011ccp.1_RNA|COQ2_uc003hof.2_RNA|COQ2_uc003hoh.1_Nonsense_Mutation_p.W217* NM_015697 NP_056512 Q96H96 COQ2_HUMAN para-hydroxybenzoate-polyprenyltransferase, 204 Helical; (Potential). glycerol metabolic process|isoprenoid biosynthetic process|ubiquinone biosynthetic process mitochondrial membrane 4-hydroxybenzoate decaprenyltransferase activity|4-hydroxybenzoate nonaprenyltransferase activity ovary(1)|central_nervous_system(1) 2 Hepatocellular(203;0.114) CTAGTTGAGGCCAGTATGAAA 0.358 NaN 0 0 0 0.00308 0 6 7 SPARCL1 8404 broad.mit.edu 37 4 88414989 88414989 + Silent SNP G G A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr4:88414989G>A uc010ikm.2 - 5 1535 c.963C>T c.(961-963)CTC>CTT p.L321L SPARCL1_uc011cdc.1_Silent_p.L196L|SPARCL1_uc003hqs.3_Silent_p.L321L|SPARCL1_uc011cdd.1_Silent_p.L196L|SPARCL1_uc003hqt.2_Silent_p.L321L NM_001128310 NP_001121782 Q14515 SPRL1_HUMAN SPARC-like 1 precursor 321 signal transduction extracellular space|proteinaceous extracellular matrix calcium ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.00118) TAGGTTCCATGAGCAGAGCCT 0.408 NaN 0 0 0 0.00278 0 22 101 CTSO 1519 broad.mit.edu 37 4 156850813 156850813 + Missense_Mutation SNP G G T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr4:156850813G>T uc003ipg.2 - 6 768 c.719C>A c.(718-720)CCT>CAT p.P240H NM_001334 NP_001325 P43234 CATO_HUMAN cathepsin O preproprotein 240 proteolysis lysosome cysteine-type endopeptidase activity 0 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148) GACTACCAAAGGGCCAAAGGT 0.378 NaN 1 0 5.18039e-06 0.00308 5.41235e-06 8 16 RXFP3 51289 broad.mit.edu 37 5 33937235 33937235 + Silent SNP G G A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr5:33937235G>A uc003jic.1 + 1 747 c.390G>A c.(388-390)CAG>CAA p.Q130Q NM_016568 NP_057652 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 130 Helical; Name=2; (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 CGGACTTTCAGTTTGTGCTCA 0.567 NaN 0 0 0 0.000602 0 4 89 CWC27 10283 broad.mit.edu 37 5 64081347 64081347 + Missense_Mutation SNP G G C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr5:64081347G>C uc003jtn.1 + 5 655 c.436G>C c.(436-438)GAA>CAA p.E146Q CWC27_uc003jtl.2_Missense_Mutation_p.E146Q|CWC27_uc003jtm.2_Missense_Mutation_p.E146Q|CWC27_uc010iwt.1_Missense_Mutation_p.E146Q NM_005869 NP_005860 Q6UX04 CWC27_HUMAN serologically defined colon cancer antigen 10 146 PPIase cyclophilin-type. protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity 0 GCGACTGTCAGAAGTAGACAT 0.333 NaN 0 0 0 0.003163 0 12 20 SLCO6A1 133482 broad.mit.edu 37 5 101735415 101735415 + Missense_Mutation SNP C C A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr5:101735415C>A uc003knn.2 - 10 1830 c.1658G>T c.(1657-1659)GGA>GTA p.G553V SLCO6A1_uc003kno.2_Missense_Mutation_p.G300V|SLCO6A1_uc003knp.2_Missense_Mutation_p.G553V|SLCO6A1_uc003knq.2_Missense_Mutation_p.G491V NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, 553 Extracellular (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|skin(3)|central_nervous_system(1) 7 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) AGTTATTAATCCTTCTTTAAT 0.323 NaN 1 0 0.00307968 0.00308 0.00313948 7 8 CAMLG 819 broad.mit.edu 37 5 134086448 134086448 + Splice_Site SNP G G C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr5:134086448G>C uc003kzt.2 + 4 805 c.700_splice c.e4-1 p.S234_splice CAMLG_uc003kzu.2_Splice_Site_p.E80_splice NM_001745 NP_001736 P49069 CAMLG_HUMAN calcium modulating ligand defense response endoplasmic reticulum|integral to membrane 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Cyclosporine(DB00091) TCTCTACACAGAGTGAAAAGA 0.358 NaN 0 0 0 0.004482 0 8 16 FGF18 8817 broad.mit.edu 37 5 170883752 170883752 + Silent SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr5:170883752C>T uc003mbk.2 + 5 1104 c.567C>T c.(565-567)TTC>TTT p.F189F NM_003862 NP_003853 O76093 FGF18_HUMAN fibroblast growth factor 18 precursor 189 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation extracellular space|nucleolus growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding 0 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AGAAGCCCTTCAAGTACACGA 0.682 NaN 0 0 0 0.01441 0 53 9 HLA-B 3106 broad.mit.edu 37 6 31322894 31322894 + Silent SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr6:31322894C>T uc003nth.2 - 5 1056 c.1002G>A c.(1000-1002)AGG>AGA p.R334R HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_RNA|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Silent_p.R213R|HLA-B_uc003nti.1_Intron NM_005514 NP_005505 P01889 1B07_HUMAN major histocompatibility complex, class I, B 334 Cytoplasmic (Potential). antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity 0 CTGAACTCTTCCTCCTACACA 0.582 NaN Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of 0 0 0 0.00245 0 14 102 COL11A2 1302 broad.mit.edu 37 6 33136782 33136782 + Missense_Mutation SNP G G C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr6:33136782G>C uc003ocx.1 - 52 4030 c.3802C>G c.(3802-3804)CCT>GCT p.P1268A COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.P1182A|COL11A2_uc003ocz.1_Missense_Mutation_p.P1161A NM_080680 NP_542411 P13942 COBA2_HUMAN collagen, type XI, alpha 2 isoform 1 1268 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging ovary(3)|skin(2) 5 AAACCAACAGGACCCTGATCC 0.592 NaN 0 0 0 0.00278 0 23 41 PTCRA 171558 broad.mit.edu 37 6 42893345 42893345 + Silent SNP C C G TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr6:42893345C>G uc003osx.2 + 4 852 c.771C>G c.(769-771)CTC>CTG p.L257L PTCRA_uc010jxy.2_Silent_p.L232L|PTCRA_uc010jxz.2_Silent_p.L150L NM_138296 NP_612153 Q6ISU1 PTCRA_HUMAN pre T-cell antigen receptor alpha precursor 257 Cytoplasmic (Potential). integral to membrane receptor activity ovary(2) 2 Colorectal(47;0.196) all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388) GATCTGCCCTCAGGGCTCCTT 0.632 NaN 0 0 0 0.008291 0 11 12 HSP90AB1 3326 broad.mit.edu 37 6 44221102 44221102 + Missense_Mutation SNP C C G TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr6:44221102C>G uc003oxa.1 + 11 2136 c.2052C>G c.(2050-2052)ATC>ATG p.I684M HSP90AB1_uc011dvr.1_Missense_Mutation_p.I674M|HSP90AB1_uc003oxb.1_Missense_Mutation_p.I684M|HSP90AB1_uc011dvs.1_Missense_Mutation_p.I504M|HSP90AB1_uc003oxc.1_Missense_Mutation_p.I322M NM_007355 NP_031381 P08238 HS90B_HUMAN heat shock 90kDa protein 1, beta 684 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding lung(3)|breast(1) 4 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) ATCGCATGATCAAGCTAGGTC 0.483 NaN 0 0 0 0.01441 0 62 197 LAMA2 3908 broad.mit.edu 37 6 129687390 129687390 + Missense_Mutation SNP C C G TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr6:129687390C>G uc003qbn.2 + 33 4849 c.4744C>G c.(4744-4746)CTT>GTT p.L1582V LAMA2_uc003qbo.2_Missense_Mutation_p.L1582V NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1582 Domain II and I. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CACTGGCCTTCTTCTCGGTGA 0.463 NaN 0 0 0 0.012319 0 18 19 C6orf192 116843 broad.mit.edu 37 6 133105152 133105152 + Missense_Mutation SNP C C A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr6:133105152C>A uc003qdw.1 - 6 730 c.578G>T c.(577-579)GGC>GTC p.G193V C6orf192_uc011eco.1_Missense_Mutation_p.G67V NM_052831 NP_439896 Q6NT16 CF192_HUMAN hypothetical protein LOC116843 193 Extracellular (Potential). transmembrane transport integral to membrane ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(155;0.00303)|GBM - Glioblastoma multiforme(226;0.0265) CACTTCATAGCCAAAGGATTG 0.383 NaN 1 0 2.27111e-07 0.013537 2.38467e-07 12 23 CCDC28A 25901 broad.mit.edu 37 6 139113917 139113917 + Missense_Mutation SNP G G A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr6:139113917G>A uc003qie.2 + 6 957 c.802G>A c.(802-804)GTT>ATT p.V268I NM_015439 NP_056254 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A 268 0 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) TGCACAAGATGTTCCAAATAC 0.338 NaN 0 0 0 0.00308 0 6 26 CCDC126 90693 broad.mit.edu 37 7 23682709 23682709 + Missense_Mutation SNP C C T rs146283363 byFrequency TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr7:23682709C>T uc003swl.2 + 4 855 c.398C>T c.(397-399)ACG>ATG p.T133M CCDC126_uc003swm.2_Missense_Mutation_p.T133M|CCDC126_uc003swn.2_Missense_Mutation_p.T133M NM_138771 NP_620126 Q96EE4 CC126_HUMAN coiled-coil domain containing 126 precursor 133 extracellular region ovary(1)|skin(1) 2 AATAAAAGAACGAATGTCTCG 0.428 NaN 0 0 0 0.00308 0 8 19 TNS3 64759 broad.mit.edu 37 7 47408747 47408747 + Missense_Mutation SNP G G A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr7:47408747G>A uc003tnv.2 - 17 1863 c.1496C>T c.(1495-1497)TCG>TTG p.S499L TNS3_uc003tnw.2_Missense_Mutation_p.S499L NM_022748 NP_073585 Q68CZ2 TENS3_HUMAN tensin 3 499 focal adhesion protein binding ovary(4) 4 AGGCCCTTCCGAGGAGGACAG 0.592 NaN 0 0 0 0.004482 0 6 39 POM121L12 285877 broad.mit.edu 37 7 53104067 53104067 + Missense_Mutation SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr7:53104067C>T uc003tpz.2 + 1 719 c.703C>T c.(703-705)CCT>TCT p.P235S NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 235 0 CAGGCCAGGGCCTCTGAAGCC 0.642 NaN 0 0 0 0.003163 0 14 56 PSPH 5723 broad.mit.edu 37 7 56088853 56088853 + Missense_Mutation SNP C C A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr7:56088853C>A uc003trg.2 - 3 416 c.53G>T c.(52-54)TGT>TTT p.C18F PSPH_uc003trh.2_Missense_Mutation_p.C18F|PSPH_uc003tri.2_Missense_Mutation_p.C18F|PSPH_uc003trj.2_Missense_Mutation_p.C47F NM_004577 NP_004568 P78330 SERB_HUMAN phosphoserine phosphatase 18 L-serine biosynthetic process cytoplasm calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity ovary(1)|skin(1) 2 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) AACATCAAAACACACAGCATC 0.438 NaN 1 0 0.000219431 0.00245 0.000225885 15 76 MLXIPL 51085 broad.mit.edu 37 7 73011529 73011529 + Missense_Mutation SNP G G C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr7:73011529G>C uc003tyn.1 - 9 1634 c.1586C>G c.(1585-1587)ACA>AGA p.T529R MLXIPL_uc003tyj.1_5'UTR|MLXIPL_uc003tyk.1_Missense_Mutation_p.T529R|MLXIPL_uc003tyl.1_Missense_Mutation_p.T529R|MLXIPL_uc003tym.1_Missense_Mutation_p.T529R|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_Missense_Mutation_p.T436R|MLXIPL_uc003tyq.1_Missense_Mutation_p.T271R NM_032951 NP_116569 Q9NP71 WBS14_HUMAN Williams Beuren syndrome chromosome region 14 529 anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding pancreas(1) 1 Lung NSC(55;0.0659)|all_lung(88;0.152) GAGCAGCTGTGTGAGGCAGGG 0.672 NaN 0 0 0 0.009096 0 4 14 ZNF804B 219578 broad.mit.edu 37 7 88966018 88966018 + Missense_Mutation SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr7:88966018C>T uc011khi.1 + 4 4260 c.3722C>T c.(3721-3723)GCA>GTA p.A1241V NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1241 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) CTTTCACAGGCACATTTCAGT 0.468 NaN HNSCC(36;0.09) 0 0 0 0.008871 0 21 63 ANKIB1 54467 broad.mit.edu 37 7 91981821 91981821 + Nonsense_Mutation SNP G G A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr7:91981821G>A uc003ulw.2 + 9 1638 c.1262G>A c.(1261-1263)TGG>TAG p.W421* NM_019004 NP_061877 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 421 IBR-type; degenerate. protein binding|zinc ion binding lung(1) 1 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GCCATTAAATGGTGTCCTACT 0.383 NaN 0 0 0 0.004482 0 7 40 ANKIB1 54467 broad.mit.edu 37 7 91981845 91981845 + Missense_Mutation SNP G G C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr7:91981845G>C uc003ulw.2 + 9 1662 c.1286G>C c.(1285-1287)AGA>ACA p.R429T NM_019004 NP_061877 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 429 IBR-type; degenerate. protein binding|zinc ion binding lung(1) 1 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GGCTGTGACAGAGCAGTAAGA 0.398 NaN 0 0 0 0.00245 0 14 44 CTTNBP2 83992 broad.mit.edu 37 7 117375046 117375046 + Missense_Mutation SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr7:117375046C>T uc003vjf.2 - 16 3889 c.3797G>A c.(3796-3798)CGC>CAC p.R1266H NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 1266 ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) CTGCACCCAGCGGAAATGCTG 0.493 NaN 0 0 0 0.004482 0 9 30 XRCC2 7516 broad.mit.edu 37 7 152373252 152373252 + Splice_Site SNP C C G rs3218384 by1000genomes TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr7:152373252C>G uc003wld.2 - 1 1 c.-85_splice c.e1-1 NM_005431 NP_005422 O43543 XRCC2_HUMAN X-ray repair cross complementing protein 2 meiosis nucleus ATP binding|DNA binding|DNA-dependent ATPase activity breast(1)|liver(1) 2 all_hematologic(28;0.0592)|Prostate(32;0.081) OV - Ovarian serous cystadenocarcinoma(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (81;0.0429) CCAGTCAAACCCGCCCACCCG 0.701 NaN Homologous_recombination 0 0 0 0.004672 0 3 28 DEFA5 1670 broad.mit.edu 37 8 6912954 6912954 + Silent SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr8:6912954C>T uc003wra.1 - 2 324 c.284G>A c.(283-285)TGA>TAA p.*95* NM_021010 NP_066290 Q01523 DEF5_HUMAN defensin, alpha 5 preproprotein 95 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space 0 COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) CTAGGAAGCTCAGCGACAGCA 0.483 NaN 0 0 0 0.004482 0 9 9 FGFR1 2260 broad.mit.edu 37 8 38275486 38275486 + Missense_Mutation SNP C C G TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr8:38275486C>G uc003xlp.2 - 12 2396 c.1454G>C c.(1453-1455)GGA>GCA p.G485A FGFR1_uc010lwf.2_RNA|FGFR1_uc011lbo.1_Missense_Mutation_p.G483A|FGFR1_uc011lbp.1_Missense_Mutation_p.G396A|FGFR1_uc011lbq.1_Missense_Mutation_p.G394A|FGFR1_uc010lwk.2_Missense_Mutation_p.G475A NM_023110 NP_075598 P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 isoform 1 485 ATP.|Cytoplasmic (Potential).|Protein kinase. axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1) 15 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) GCAGCCCTCTCCCAGGGGTTT 0.552 1 T BCR|FOP|ZNF198|CEP1 MPD|NHL Pfeiffer syndrome|Kallman syndrome 0 0 0 0.010771 0 46 25 MSC 9242 broad.mit.edu 37 8 72756080 72756080 + Missense_Mutation SNP C C A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr8:72756080C>A uc003xyx.1 - 1 652 c.334G>T c.(334-336)GCC>TCC p.A112S uc011lff.1_Intron|uc003xyy.2_5'Flank NM_005098 NP_005089 O60682 MUSC_HUMAN musculin 112 Basic motif. transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 Breast(64;0.176) Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203) CGGGCGTTGGCCGCGTTCCGC 0.701 NaN OREG0018826 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 9.70103e-10 0.008291 1.0394e-09 11 25 HNF4G 3174 broad.mit.edu 37 8 76468215 76468215 + Splice_Site SNP A A T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr8:76468215A>T uc003yaq.2 + 7 775 c.505_splice c.e7-2 p.V169_splice HNF4G_uc003yar.2_Splice_Site_p.V206_splice NM_004133 NP_004124 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1) 1 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) TTTTTCATTAAGGTGGCACTG 0.333 NaN 0 0 0 0.000602 0 5 8 IMPA1 3612 broad.mit.edu 37 8 82592977 82592977 + Silent SNP C C A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr8:82592977C>A uc003ych.2 - 3 232 c.105G>T c.(103-105)CTG>CTT p.L35L IMPA1_uc011lfq.1_Silent_p.L94L|IMPA1_uc011lfr.1_Silent_p.L35L NM_005536 NP_005527 P29218 IMPA1_HUMAN inositol(myo)-1(or 4)-monophosphatase 1 isoform 35 inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction cytoplasm inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity skin(1) 1 Lithium(DB01356) GAGAACTTTTCAGCATAACAT 0.299 NaN 1 0 5.16669e-11 0.010729 5.56412e-11 12 63 DCAF10 79269 broad.mit.edu 37 9 37842171 37842171 + Missense_Mutation SNP T T C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr9:37842171T>C uc004aao.2 + 3 813 c.739T>C c.(739-741)TGC>CGC p.C247R DCAF10_uc010mlz.2_Missense_Mutation_p.C74R NM_024345 NP_077321 Q5QP82 DCA10_HUMAN WD repeat domain 32 247 WD 2. CUL4 RING ubiquitin ligase complex central_nervous_system(1) 1 CACCAAAGTATGCACTTTACA 0.368 NaN 0 0 0 0.008871 0 19 26 ANXA1 301 broad.mit.edu 37 9 75777739 75777739 + Missense_Mutation SNP T T C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr9:75777739T>C uc004ajf.1 + 7 591 c.517T>C c.(517-519)TCT>CCT p.S173P ANXA1_uc004aje.1_Missense_Mutation_p.S173P|ANXA1_uc004ajg.1_Missense_Mutation_p.S173P NM_000700 NP_000691 P04083 ANXA1_HUMAN annexin I 173 Annexin 2. alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity breast(1)|central_nervous_system(1) 2 all_epithelial(88;2.54e-11) OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325) Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620) CTCAGACACATCTGGAGATTT 0.308 NaN 0 0 0 0.004672 0 3 1 SCAI 286205 broad.mit.edu 37 9 127781102 127781102 + Silent SNP G G A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr9:127781102G>A uc004bpe.2 - 9 918 c.837C>T c.(835-837)CTC>CTT p.L279L SCAI_uc004bpd.2_Silent_p.L302L|SCAI_uc010mwu.2_RNA NM_001144877 NP_001138349 Q8N9R8 SCAI_HUMAN suppressor of cancer cell invasion isoform 2 279 negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|integral to membrane|nucleus protein binding|transcription corepressor activity ovary(2)|breast(2)|central_nervous_system(1) 5 TACCAATAATGAGTGCGTCAG 0.378 NaN 0 0 0 0.00278 0 22 31 PRRX2 51450 broad.mit.edu 37 9 132481528 132481528 + Missense_Mutation SNP G G A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr9:132481528G>A uc004byh.2 + 2 505 c.278G>A c.(277-279)GGG>GAG p.G93E NM_016307 NP_057391 Q99811 PRRX2_HUMAN paired related homeobox 2 93 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(1) 1 Ovarian(14;0.00556) CCCAGCCCGGGGCGCGGTAGC 0.672 NaN 0 0 0 0.00308 0 8 4 PNPLA7 375775 broad.mit.edu 37 9 140379137 140379137 + Missense_Mutation SNP G G A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr9:140379137G>A uc004cnf.2 - 20 2511 c.2174C>T c.(2173-2175)CCG>CTG p.P725L C9orf167_uc011mew.1_Intron|PNPLA7_uc004cnd.1_5'UTR|PNPLA7_uc004cne.1_5'UTR|PNPLA7_uc011mfa.1_Missense_Mutation_p.P133L|PNPLA7_uc010ncj.1_Missense_Mutation_p.P750L NM_152286 NP_689499 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 725 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity skin(1) 1 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) GTTGACAGCCGGGTTCCCCAA 0.662 NaN 0 0 0 0.004672 0 3 11 ZMYND19 116225 broad.mit.edu 37 9 140481554 140481554 + Missense_Mutation SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr9:140481554C>T uc004cno.1 - 4 446 c.224G>A c.(223-225)CGG>CAG p.R75Q NM_138462 NP_612471 Q96E35 ZMY19_HUMAN zinc finger, MYND domain containing 19 75 Golgi apparatus|plasma membrane zinc ion binding skin(1) 1 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047) CCCCCGGTGCCGCTCCCTAGA 0.622 NaN 0 0 0 0.008291 0 10 55 IL3RA 3563 broad.mit.edu 37 X 1471230 1471230 + Nonsense_Mutation SNP C C G rs147935693 TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chrX:1471230C>G uc004cps.2 + 6 796 c.447C>G c.(445-447)TAC>TAG p.Y149* IL3RA_uc011mhd.1_Nonsense_Mutation_p.Y71* NM_002183 NP_002174 P26951 IL3RA_HUMAN interleukin 3 receptor, alpha precursor 149 Extracellular (Potential). integral to membrane|plasma membrane interleukin-3 receptor activity skin(2)|lung(1) 3 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) GTCAACAGTACGAGTGTCTTC 0.602 NaN 0 0 0 0.01441 0 54 524 DMD 1756 broad.mit.edu 37 X 32503148 32503148 + Silent SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chrX:32503148C>T uc004dda.1 - 21 2935 c.2691G>A c.(2689-2691)CTG>CTA p.L897L DMD_uc004dcz.2_Silent_p.L774L|DMD_uc004dcy.1_Silent_p.L893L|DMD_uc004ddb.1_Silent_p.L889L|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 897 Spectrin 5. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CTTTCTCTTTCAGGGCTATGC 0.413 NaN 0 0 0 0.00308 0 7 31 WAS 7454 broad.mit.edu 37 X 48547079 48547079 + Missense_Mutation SNP G G C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chrX:48547079G>C uc004dkm.3 + 10 1019 c.962G>C c.(961-963)CGA>CCA p.R321P NM_000377 NP_000368 P42768 WASP_HUMAN Wiskott-Aldrich syndrome protein 321 blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway actin cytoskeleton|cytosol identical protein binding|small GTPase regulator activity ovary(1) 1 all_lung(315;1.27e-10) CCGCCATCTCGAGGAGGGAAC 0.522 NaN Mis|N|F|S lymphoma Wiskott-Aldrich_syndrome 0 0 0 0.010729 0 9 53 KDM5C 8242 broad.mit.edu 37 X 53247478 53247478 + Missense_Mutation SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chrX:53247478C>T uc004drz.2 - 3 864 c.331G>A c.(331-333)GAC>AAC p.D111N KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Intron|KDM5C_uc004dsa.2_Missense_Mutation_p.D111N NM_004187 NP_004178 P41229 KDM5C_HUMAN jumonji, AT rich interactive domain 1C isoform 111 ARID. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1) 18 CTGTAGAGGTCCAAGATCCGC 0.488 NaN N|F|S clear cell renal carcinoma 0 0 0 0.006214 0 10 50 WNK3 65267 broad.mit.edu 37 X 54276034 54276034 + Missense_Mutation SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chrX:54276034C>T uc004dtd.1 - 17 3186 c.2747G>A c.(2746-2748)CGG>CAG p.R916Q WNK3_uc004dtc.1_Missense_Mutation_p.R916Q NM_001002838 NP_001002838 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 isoform 2 916 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity lung(4)|ovary(3)|kidney(2)|central_nervous_system(2) 11 CAATGTGTCCCGTGATATTTC 0.398 NaN 0 0 0 0.006214 0 8 78 MTMR8 55613 broad.mit.edu 37 X 63548760 63548760 + Missense_Mutation SNP G G A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chrX:63548760G>A uc004dvs.2 - 12 1441 c.1373C>T c.(1372-1374)TCT>TTT p.S458F MTMR8_uc011mou.1_Intron NM_017677 NP_060147 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 458 Myotubularin phosphatase. nuclear envelope protein tyrosine phosphatase activity ovary(2)|breast(2) 4 AGGCCACACAGAATGTGTTTT 0.403 NaN 0 0 0 0.000602 0 5 5 RLIM 51132 broad.mit.edu 37 X 73811938 73811938 + Silent SNP G G C rs61754468 by1000genomes TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chrX:73811938G>C uc004ebu.2 - 5 1502 c.1212C>G c.(1210-1212)ACC>ACG p.T404T RLIM_uc004ebw.2_Silent_p.T404T NM_183353 NP_899196 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 404 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 GCCTTAACATGGTCTGAATTG 0.413 NaN 0 0 0 0.000602 0 5 65 TGIF2LX 90316 broad.mit.edu 37 X 89177629 89177629 + Missense_Mutation SNP A A T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chrX:89177629A>T uc004efe.2 + 2 594 c.545A>T c.(544-546)AAG>ATG p.K182M NM_138960 NP_620410 Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 182 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 CCTAGCCAGAAGCTCACCGGA 0.562 NaN 0 0 0 0.001984 0 7 22 GPRASP2 114928 broad.mit.edu 37 X 101970046 101970046 + Silent SNP T T G TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chrX:101970046T>G uc004ejk.2 + 4 1583 c.249T>G c.(247-249)GGT>GGG p.G83G GPRASP2_uc004ejl.2_Silent_p.G83G|GPRASP2_uc004ejm.2_Silent_p.G83G|GPRASP2_uc011mrp.1_5'Flank NM_138437 NP_612446 Q96D09 GASP2_HUMAN G protein-coupled receptor associated sorting 83 cytoplasm protein binding ovary(1) 1 TAATGGGTGGTGCAAGACCCA 0.562 NaN 0 0 0 0.009096 0 4 58 IGSF1 3547 broad.mit.edu 37 X 130409595 130409595 + Missense_Mutation SNP C C A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chrX:130409595C>A uc004ewd.2 - 16 3279 c.3041G>T c.(3040-3042)TGG>TTG p.W1014L IGSF1_uc004ewe.3_Missense_Mutation_p.W1008L|IGSF1_uc004ewf.2_Missense_Mutation_p.W994L NM_001555 NP_001546 Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 isoform 1 1014 Extracellular (Potential).|Ig-like C2-type 10. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding ovary(3)|lung(1)|central_nervous_system(1) 5 GGTGGATCCCCAGAGCTGCAT 0.537 NaN 1 0 4.68919e-08 0.008291 4.99863e-08 11 64 GPR112 139378 broad.mit.edu 37 X 135441568 135441568 + Silent SNP A A G TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chrX:135441568A>G uc004ezu.1 + 11 7389 c.7098A>G c.(7096-7098)CAA>CAG p.Q2366Q GPR112_uc010nsb.1_Silent_p.Q2161Q|GPR112_uc010nsc.1_Intron NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 2366 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) CACAAGATCAATTGACGTTAT 0.343 NaN 0 0 0 0.004672 0 3 41 CTAG2 30848 broad.mit.edu 37 X 153880682 153880682 + Missense_Mutation SNP C C G TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chrX:153880682C>G uc004fmi.1 - 2 546 c.493G>C c.(493-495)GCT>CCT p.A165P CTAG2_uc004fmh.1_Intron NM_020994 NP_066274 O75638 CTAG2_HUMAN cancer/testis antigen 2 isoform LAGE-1b 165 centrosome pancreas(1) 1 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AGATCTCTAGCTTTCTGCCCC 0.632 NaN 0 0 0 0.009718 0 43 10 CTAG2 30848 broad.mit.edu 37 X 153880694 153880694 + Missense_Mutation SNP C C T TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chrX:153880694C>T uc004fmi.1 - 2 534 c.481G>A c.(481-483)GAG>AAG p.E161K CTAG2_uc004fmh.1_Intron NM_020994 NP_066274 O75638 CTAG2_HUMAN cancer/testis antigen 2 isoform LAGE-1b 161 centrosome pancreas(1) 1 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TTCTGCCCCTCCGGGGAGGCG 0.632 NaN 0 0 0 0.010771 0 45 10 NOTCH2 4853 broad.mit.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr1:120612003_120612004delGG uc001eik.2 - 1 273_274 c.17_18delCC c.(16-18)CCCfs p.P6fs NOTCH2_uc001eil.2_Frame_Shift_Del_p.P6fs|NOTCH2_uc001eim.3_5'UTR NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 6 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) ACAGCAGAGCGGGGCGCAGGGC 0.663 NaN N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome NaN NaN NaN NaN NaN 12 22 --- --- RHBG 57127 broad.mit.edu 37 1 156339062 156339073 + In_Frame_Del DEL GCCGCGGGCCGG GCCGCGGGCCGG - TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr1:156339062_156339073delGCCGCGGGCCGG uc010pho.1 + 1 60_71 c.22_33delGCCGCGGGCCGG c.(22-33)GCCGCGGGCCGGdel p.AAGR8del RHBG_uc010phm.1_In_Frame_Del_p.AAGR8del|RHBG_uc010phn.1_RNA|RHBG_uc001fos.2_5'UTR|RHBG_uc009wrz.2_5'UTR|RHBG_uc001for.2_5'UTR NM_020407 NP_065140 Q9H310 RHBG_HUMAN Rhesus blood group, B glycoprotein 8_11 Cytoplasmic (Potential). transepithelial ammonium transport anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding ovary(2) 2 Hepatocellular(266;0.158) TCCTAGCCGCGCCGCGGGCCGGCGACTGCAGC 0.67 NaN NaN NaN NaN NaN NaN 16 90 --- --- ITGA8 8516 broad.mit.edu 37 10 15639284 15639301 + Splice_Site DEL CAGTGGTCGAAATCCCTA CAGTGGTCGAAATCCCTA - TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr10:15639284_15639301delCAGTGGTCGAAATCCCTA uc001ioc.1 - 21 2119 c.2119_splice c.e21-1 p.G707_splice ITGA8_uc010qcb.1_Splice_Site_p.G692_splice NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 ACTCACAGCTCAGTGGTCGAAATCCCTACAATTGCAAA 0.491 NaN NaN NaN NaN NaN NaN 8 36 --- --- FOXA1 3169 broad.mit.edu 37 14 38061168 38061169 + Frame_Shift_Ins INS - - C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr14:38061168_38061169insC uc001wuf.2 - 2 1132_1133 c.820_821insG c.(820-822)GCCfs p.A274fs FOXA1_uc010tpz.1_Frame_Shift_Ins_p.A241fs NM_004496 NP_004487 P55317 FOXA1_HUMAN forkhead box A1 274 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding 0 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) cccgccgccggcccccgGCTGC 0.52 NaN NaN NaN NaN NaN NaN 13 3 --- --- PMM2 5373 broad.mit.edu 37 16 8906913 8906918 + In_Frame_Del DEL GAAAAT GAAAAT - rs34258285 byFrequency TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr16:8906913_8906918delGAAAAT uc002czf.3 + 7 659_664 c.589_594delGAAAAT c.(589-594)GAAAATdel p.EN197del PMM2_uc010uyf.1_RNA|PMM2_uc010uyg.1_In_Frame_Del_p.EN114del|PMM2_uc010uyh.1_In_Frame_Del_p.EN72del|PMM2_uc010buj.2_RNA|PMM2_uc010uyi.1_In_Frame_Del_p.EN50del NM_000303 NP_000294 O15305 PMM2_HUMAN phosphomannomutase 2 197_198 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol phosphomannomutase activity ovary(1) 1 GCGACATGTGGAAAATGACGGTTATA 0.471 NaN NaN NaN NaN NaN NaN 18 208 --- --- MEGF10 84466 broad.mit.edu 37 5 126784798 126784799 + Frame_Shift_Ins INS - - CAAT TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr5:126784798_126784799insCAAT uc003kuh.3 + 23 3226_3227 c.2864_2865insCAAT c.(2863-2865)AACfs p.N955fs MEGF10_uc003kui.3_Frame_Shift_Ins_p.N955fs NM_032446 NP_115822 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 precursor 955 Cytoplasmic (Potential).|Necessary for formation of large intracellular vacuoles. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup ovary(4) 4 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) CAGTCAAAAAACAATCAACTGT 0.446 NaN NaN NaN NaN NaN NaN 14 23 --- --- PRRC1 133619 broad.mit.edu 37 5 126860380 126860381 + Frame_Shift_Ins INS - - A TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr5:126860380_126860381insA uc003kuk.2 + 3 441_442 c.261_262insA c.(259-264)GTTACTfs p.V87fs PRRC1_uc003kuj.3_Frame_Shift_Ins_p.V87fs NM_130809 NP_570721 Q96M27 PRRC1_HUMAN proline-rich coiled-coil 1 87_88 Pro-rich. Golgi apparatus 0 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113) CACCACTTGTTACTTCTATGCC 0.52 NaN NaN NaN NaN NaN NaN 63 98 --- --- COL19A1 1310 broad.mit.edu 37 6 70639419 70639419 + Frame_Shift_Del DEL C C - rs112596596 byFrequency TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr6:70639419delC uc003pfc.1 + 6 610 c.493delC c.(493-495)CCTfs p.P165fs COL19A1_uc010kam.1_Frame_Shift_Del_p.P61fs NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 165 TSP N-terminal. cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 AGAACTCCGTCCTTTGTTTGA 0.393 NaN NaN NaN NaN NaN NaN 6 6 --- --- CAMSAP1 157922 broad.mit.edu 37 9 138715799 138715800 + Frame_Shift_Ins INS - - T rs148250832 byFrequency TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61324839-e90a-49f2-a9c9-629d7b125fe9 af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4 g.chr9:138715799_138715800insT uc004cgr.3 - 10 1396_1397 c.1396_1397insA c.(1396-1398)ACCfs p.T466fs CAMSAP1_uc004cgq.3_Frame_Shift_Ins_p.T356fs|CAMSAP1_uc010nbg.2_Frame_Shift_Ins_p.T188fs NM_015447 NP_056262 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 466 cytoplasm|microtubule ovary(1)|central_nervous_system(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) GACTCACCTGGTTTTTTTTTCT 0.337 NaN NaN NaN NaN NaN NaN 2 4 --- ---