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 t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele filter AGRN 375790 broad.mit.edu 37 1 979737 979737 + Silent SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:979737C>T uc001ack.1 + 12 2222 c.2172C>T c.(2170-2172)ACC>ACT p.T724T NM_198576 NP_940978 O00468 AGRIN_HUMAN agrin precursor 724 Kazal-like 8. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton central_nervous_system(2)|breast(1) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) ATGGGGTCACCTACAGCACCG 0.687 6 15 --- --- --- --- PASS DFFB 1677 broad.mit.edu 37 1 3800107 3800107 + Silent SNP G T T rs144155925 TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:3800107G>T uc001alc.2 + 7 1142 c.819G>T c.(817-819)GTG>GTT p.V273V DFFB_uc001ale.2_RNA|DFFB_uc009vlp.2_RNA|DFFB_uc001alb.2_RNA|DFFB_uc010nzn.1_Silent_p.V297V|DFFB_uc009vlq.2_RNA|DFFB_uc009vlr.2_Silent_p.V224V|DFFB_uc001ald.2_Silent_p.V209V NM_004402 NP_004393 O76075 DFFB_HUMAN DNA fragmentation factor, 40 kD, beta 273 apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction cytosol|nucleoplasm deoxyribonuclease activity|enzyme binding 0 all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227) all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211) Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124) CTACACTGGTGGAAGCAATTA 0.433 6 129 --- --- --- --- PASS TMEM201 199953 broad.mit.edu 37 1 9661495 9661495 + Silent SNP G C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:9661495G>C uc001apz.2 + 5 951 c.939G>C c.(937-939)CTG>CTC p.L313L TMEM201_uc001apy.2_Silent_p.L313L NM_001130924 NP_001124396 Q5SNT2 TM201_HUMAN transmembrane protein 201 isoform 1 313 Helical; (Potential). integral to membrane|nuclear inner membrane 0 all_lung(157;0.222) all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419) TGGCAATGCTGCTGGCTGGCC 0.667 6 25 --- --- --- --- PASS KIF1B 23095 broad.mit.edu 37 1 10336422 10336422 + Silent SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:10336422G>T uc001aqx.3 + 12 1204 c.1002G>T c.(1000-1002)GCG>GCT p.A334A KIF1B_uc001aqv.3_Silent_p.A328A|KIF1B_uc001aqw.3_Silent_p.A328A|KIF1B_uc001aqy.2_Silent_p.A334A|KIF1B_uc001aqz.2_Silent_p.A334A|KIF1B_uc001ara.2_Silent_p.A334A|KIF1B_uc001arb.2_Silent_p.A334A NM_015074 NP_055889 O60333 KIF1B_HUMAN kinesin family member 1B isoform b 334 Kinesin-motor.|Interaction with KBP. anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) TGAGCCCCGCGGATATCAACT 0.398 11 12 --- --- --- --- PASS CASZ1 54897 broad.mit.edu 37 1 10720208 10720208 + Silent SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:10720208G>A uc001aro.2 - 6 1211 c.891C>T c.(889-891)CAC>CAT p.H297H CASZ1_uc001arp.1_Silent_p.H297H|CASZ1_uc009vmx.2_Silent_p.H321H|CASZ1_uc001arq.1_Silent_p.H156H NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN castor homolog 1, zinc finger isoform a 297 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding skin(1) 1 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) GGACACTGCTGTGCGACGGCA 0.657 37 46 --- --- --- --- PASS MTOR 2475 broad.mit.edu 37 1 11297904 11297904 + Missense_Mutation SNP A C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:11297904A>C uc001asd.2 - 13 2325 c.2204T>G c.(2203-2205)ATC>AGC p.I735S NM_004958 NP_004949 P42345 MTOR_HUMAN FK506 binding protein 12-rapamycin associated 735 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2) 29 GGTTACCTGGATGAGCATCTT 0.577 13 49 --- --- --- --- PASS PADI3 51702 broad.mit.edu 37 1 17593278 17593278 + Missense_Mutation SNP A C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:17593278A>C uc001bai.2 + 5 513 c.473A>C c.(472-474)GAT>GCT p.D158A NM_016233 NP_057317 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 158 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity ovary(1)|breast(1) 2 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) GACCGTGATGATCCGAGCTGT 0.607 12 56 --- --- --- --- PASS USP48 84196 broad.mit.edu 37 1 22021658 22021658 + Silent SNP T C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:22021658T>C uc001bfb.2 - 23 3022 c.2784A>G c.(2782-2784)CAA>CAG p.Q928Q USP48_uc001bfa.2_Intron|USP48_uc010odq.1_Silent_p.Q940Q|USP48_uc009vqc.2_Silent_p.Q862Q|USP48_uc001bfc.2_Intron|USP48_uc001bfd.1_Silent_p.Q53Q NM_032236 NP_115612 Q86UV5 UBP48_HUMAN ubiquitin specific protease 48 isoform a 928 ubiquitin-dependent protein catabolic process mitochondrion|nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(1)|lung(1) 2 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753) TAACTTGCTTTTGATAGGCTA 0.368 14 57 --- --- --- --- PASS PUM1 9698 broad.mit.edu 37 1 31418279 31418279 + Missense_Mutation SNP G C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:31418279G>C uc001bsi.1 - 18 3015 c.2902C>G c.(2902-2904)CAG>GAG p.Q968E PUM1_uc001bsf.1_Missense_Mutation_p.Q636E|PUM1_uc001bsg.1_Missense_Mutation_p.Q702E|PUM1_uc001bsh.1_Missense_Mutation_p.Q970E|PUM1_uc001bsj.1_Missense_Mutation_p.Q944E|PUM1_uc010oga.1_Missense_Mutation_p.Q826E|PUM1_uc001bsk.1_Missense_Mutation_p.Q1006E|PUM1_uc010ogb.1_Missense_Mutation_p.Q909E|SNORD103A_uc009vts.1_Intron NM_014676 NP_055491 Q14671 PUM1_HUMAN pumilio 1 isoform 2 968 PUM-HD.|Pumilio 4. cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) TTGCCATTCTGATCTTTCACA 0.443 9 47 --- --- --- --- PASS KHDRBS1 10657 broad.mit.edu 37 1 32502535 32502535 + Missense_Mutation SNP G C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:32502535G>C uc001bub.2 + 5 902 c.796G>C c.(796-798)GAG>CAG p.E266Q KHDRBS1_uc001bua.1_Missense_Mutation_p.E227Q|KHDRBS1_uc001buc.1_RNA NM_006559 NP_006550 Q07666 KHDR1_HUMAN KH domain containing, RNA binding, signal 266 cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent membrane|nucleus DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(1) 1 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) TATCTGTCAGGAGCAATTTCT 0.512 16 64 --- --- --- --- PASS CSMD2 114784 broad.mit.edu 37 1 34008457 34008457 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:34008457C>A uc001bxn.1 - 57 8737 c.8708G>T c.(8707-8709)CGA>CTA p.R2903L CSMD2_uc001bxm.1_Missense_Mutation_p.R3047L NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2903 Sushi 21.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GAACACAACTCGGGCATTACT 0.517 4 38 --- --- --- --- PASS OSCP1 127700 broad.mit.edu 37 1 36886200 36886200 + Missense_Mutation SNP T A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:36886200T>A uc001cap.2 - 9 948 c.866A>T c.(865-867)AAC>ATC p.N289I OSCP1_uc001caq.2_Missense_Mutation_p.N279I NM_145047 NP_659484 Q8WVF1 OSCP1_HUMAN oxidored-nitro domain-containing protein isoform 289 transport basal plasma membrane ovary(2)|central_nervous_system(1)|pancreas(1) 4 AGCAAGAGGGTTTGGAGCAAT 0.468 OREG0013368 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 42 219 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39898246 39898246 + Missense_Mutation SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:39898246G>A uc010oiu.1 + 31 12828 c.12697G>A c.(12697-12699)GAA>AAA p.E4233K MACF1_uc010ois.1_Missense_Mutation_p.E3731K|MACF1_uc001cda.1_Missense_Mutation_p.E3618K|MACF1_uc001cdc.1_Missense_Mutation_p.E2688K NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 5798 Spectrin 9. 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) TTGGGTTGCTGAAACAAAACG 0.453 9 25 --- --- --- --- PASS COL9A2 1298 broad.mit.edu 37 1 40777194 40777194 + Missense_Mutation SNP A T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:40777194A>T uc001cfh.1 - 10 567 c.497T>A c.(496-498)CTG>CAG p.L166Q COL9A2_uc001cfi.1_5'UTR NM_001852 NP_001843 Q14055 CO9A2_HUMAN alpha 2 type IX collagen precursor 166 Nonhelical region 4 (NC4). axon guidance|skeletal system development collagen type IX ovary(2) 2 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.08e-17) ACTGCCTTCCAGACCCTGGAT 0.647 15 67 --- --- --- --- PASS RNF220 55182 broad.mit.edu 37 1 45101781 45101781 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:45101781G>T uc001clv.1 + 8 1433 c.1073G>T c.(1072-1074)TGG>TTG p.W358L RNF220_uc001clw.1_Missense_Mutation_p.W358L|RNF220_uc010okx.1_Missense_Mutation_p.W119L|RNF220_uc010oky.1_Missense_Mutation_p.W145L|RNF220_uc010okz.1_Missense_Mutation_p.W100L|RNF220_uc001clx.1_Missense_Mutation_p.W74L|RNF220_uc001cly.1_Missense_Mutation_p.W37L|RNF220_uc001clz.1_Missense_Mutation_p.W37L|RNF220_uc001cma.1_Missense_Mutation_p.W37L|TMEM53_uc001cmb.1_3'UTR NM_018150 NP_060620 Q5VTB9 RN220_HUMAN ring finger protein 220 358 protein autoubiquitination cytoplasm ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 GAGTATGAGTGGTGTGGACAG 0.562 8 160 --- --- --- --- PASS EIF2B3 8891 broad.mit.edu 37 1 45340357 45340357 + Missense_Mutation SNP C G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:45340357C>G uc001cmt.1 - 10 1322 c.1195G>C c.(1195-1197)GAG>CAG p.E399Q EIF2B3_uc001cmu.1_Missense_Mutation_p.E399Q|EIF2B3_uc001cmv.1_Missense_Mutation_p.E373Q|EIF2B3_uc001cmw.2_Missense_Mutation_p.E399Q NM_020365 NP_065098 Q9NR50 EI2BG_HUMAN eukaryotic translation initiation factor 2B, 399 negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex nucleotidyltransferase activity|protein binding|translation initiation factor activity ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) TACCCTTCCTCCACAGTGACT 0.284 16 67 --- --- --- --- PASS C8B 732 broad.mit.edu 37 1 57415411 57415411 + Silent SNP G A A rs138606922 byFrequency TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:57415411G>A uc001cyp.2 - 6 748 c.681C>T c.(679-681)TAC>TAT p.Y227Y C8B_uc010oon.1_Silent_p.Y165Y|C8B_uc010ooo.1_Silent_p.Y175Y NM_000066 NP_000057 P07358 CO8B_HUMAN complement component 8, beta polypeptide 227 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex central_nervous_system(2)|large_intestine(1)|ovary(1) 4 ATATGAATTCGTATTTGCCTT 0.284 9 19 --- --- --- --- PASS KANK4 163782 broad.mit.edu 37 1 62739162 62739162 + Silent SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:62739162G>T uc001dah.3 - 3 1991 c.1614C>A c.(1612-1614)ACC>ACA p.T538T KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank NM_181712 NP_859063 Q5T7N3 KANK4_HUMAN ankyrin repeat domain 38 538 ovary(3)|skin(2)|lung(1) 6 GATTGGAACTGGTCTCCTCCC 0.612 22 14 --- --- --- --- PASS SGIP1 84251 broad.mit.edu 37 1 67138998 67138998 + Missense_Mutation SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:67138998C>T uc001dcr.2 + 12 812 c.595C>T c.(595-597)CCT>TCT p.P199S SGIP1_uc010opd.1_5'UTR|SGIP1_uc001dcs.2_5'UTR|SGIP1_uc001dct.2_5'UTR|uc010ope.1_Intron|SGIP1_uc009wat.2_5'UTR NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting 199 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding ovary(3) 3 GGCCCTTGCTCCTCTCTTTGG 0.358 32 141 --- --- --- --- PASS RPE65 6121 broad.mit.edu 37 1 68903988 68903988 + Missense_Mutation SNP A C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:68903988A>C uc001dei.1 - 10 1064 c.1010T>G c.(1009-1011)GTT>GGT p.V337G NM_000329 NP_000320 Q16518 RPE65_HUMAN retinal pigment epithelium-specific protein 337 visual perception cytoplasm|plasma membrane all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity ovary(1) 1 GTAATTATAAACAAACTCAAA 0.353 8 13 --- --- --- --- PASS LRRC7 57554 broad.mit.edu 37 1 70503946 70503946 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:70503946C>A uc001dep.2 + 19 2355 c.2325C>A c.(2323-2325)GAC>GAA p.D775E LRRC7_uc009wbg.2_Missense_Mutation_p.D59E|LRRC7_uc001deq.2_Missense_Mutation_p.D16E NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 775 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 CGCATTATGACAACACAGGGT 0.517 39 50 --- --- --- --- PASS TNNI3K 51086 broad.mit.edu 37 1 74836026 74836026 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:74836026G>T uc001dgf.1 + 17 1773 c.1722G>T c.(1720-1722)ATG>ATT p.M574I TNNI3K_uc001dgc.1_Missense_Mutation_p.M675I|TNNI3K_uc001dgd.2_Missense_Mutation_p.M675I|TNNI3K_uc001dge.1_Missense_Mutation_p.M675I NM_015978 NP_057062 Q59H18 TNI3K_HUMAN TNNI3 interacting kinase isoform b 574 Protein kinase. cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 10 CCAAAGGCATGGAGTACCTTC 0.348 4 18 --- --- --- --- PASS LHX8 431707 broad.mit.edu 37 1 75622726 75622726 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:75622726G>T uc001dgo.2 + 9 1623 c.959G>T c.(958-960)GGA>GTA p.G320V LHX8_uc001dgq.2_Missense_Mutation_p.G259V NM_001001933 NP_001001933 Q68G74 LHX8_HUMAN LIM homeobox 8 320 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 CCCCAAGATGGAACGATGTTA 0.478 19 38 --- --- --- --- PASS LPAR3 23566 broad.mit.edu 37 1 85331112 85331112 + Missense_Mutation SNP C A A rs35745543 byFrequency TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:85331112C>A uc001dkl.2 - 1 731 c.692G>T c.(691-693)CGG>CTG p.R231L LPAR3_uc009wcj.1_Missense_Mutation_p.R231L NM_012152 NP_036284 Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 231 Cytoplasmic (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane|intracellular membrane-bounded organelle lung(3)|ovary(2) 5 GGGTGTCCTCCGGCGGCTGAT 0.463 11 22 --- --- --- --- PASS ZNF326 284695 broad.mit.edu 37 1 90482967 90482967 + Missense_Mutation SNP T G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:90482967T>G uc001dnq.2 + 8 1157 c.1018T>G c.(1018-1020)TTA>GTA p.L340V ZNF326_uc009wda.1_Missense_Mutation_p.L251V|ZNF326_uc001dnr.2_Missense_Mutation_p.L134V NM_182976 NP_892021 Q5BKZ1 ZN326_HUMAN zinc finger protein 326 isoform 1 340 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix DNA binding ovary(1) 1 all_lung(203;0.0116)|Lung NSC(277;0.0417) all cancers(265;0.00728)|Epithelial(280;0.0265) TCAGGAAACATTAGATCATAT 0.299 8 33 --- --- --- --- PASS SLC44A3 126969 broad.mit.edu 37 1 95294132 95294132 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:95294132G>T uc001dqv.3 + 5 606 c.499G>T c.(499-501)GTT>TTT p.V167F SLC44A3_uc001dqx.3_Missense_Mutation_p.V167F|SLC44A3_uc010otq.1_Missense_Mutation_p.V99F|SLC44A3_uc010otr.1_Missense_Mutation_p.V131F|SLC44A3_uc001dqw.3_Missense_Mutation_p.V119F|SLC44A3_uc010ots.1_Missense_Mutation_p.V87F|SLC44A3_uc009wds.2_Missense_Mutation_p.V70F|SLC44A3_uc010ott.1_Missense_Mutation_p.V87F|SLC44A3_uc010otu.1_RNA NM_001114106 NP_001107578 Q8N4M1 CTL3_HUMAN solute carrier family 44, member 3 isoform 1 167 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1) 1 all_lung(203;0.000712)|Lung NSC(277;0.00316) all cancers(265;0.039)|Epithelial(280;0.124) Choline(DB00122) CAGGCTACCAGTTCCTCCAAG 0.294 4 72 --- --- --- --- PASS DBT 1629 broad.mit.edu 37 1 100681747 100681747 + Silent SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:100681747C>T uc001dta.2 - 6 597 c.564G>A c.(562-564)CTG>CTA p.L188L DBT_uc010oug.1_Silent_p.L7L NM_001918 NP_001909 P11182 ODB2_HUMAN dihydrolipoamide branched chain transacylase 188 branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding pancreas(1) 1 all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199) CAACTTCACTCAGCTTAATCT 0.313 10 36 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103380328 103380328 + Missense_Mutation SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:103380328G>A uc001dul.2 - 51 4174 c.3856C>T c.(3856-3858)CCA>TCA p.P1286S COL11A1_uc001duk.2_Missense_Mutation_p.P482S|COL11A1_uc001dum.2_Missense_Mutation_p.P1298S|COL11A1_uc001dun.2_Missense_Mutation_p.P1247S|COL11A1_uc009weh.2_Missense_Mutation_p.P1170S NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1286 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GCTCCAGGTGGACCAGCTTCC 0.473 4 13 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103471654 103471654 + Silent SNP T C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:103471654T>C uc001dul.2 - 17 2079 c.1761A>G c.(1759-1761)GGA>GGG p.G587G COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Silent_p.G599G|COL11A1_uc001dun.2_Silent_p.G548G|COL11A1_uc009weh.2_Silent_p.G471G NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 587 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GCATTCCTCTTCCTCCATCTG 0.363 8 32 --- --- --- --- PASS GSTM5 2949 broad.mit.edu 37 1 110255769 110255769 + Silent SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:110255769G>T uc001dyn.2 + 3 212 c.141G>T c.(139-141)CTG>CTT p.L47L GSTM5_uc010ovu.1_5'UTR NM_000851 NP_000842 P46439 GSTM5_HUMAN glutathione S-transferase mu 5 47 Glutathione binding (By similarity).|GST N-terminal. xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity central_nervous_system(6) 6 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) GCCAGTGGCTGAATGAAAAAT 0.567 16 34 --- --- --- --- PASS ZNF697 90874 broad.mit.edu 37 1 120165764 120165764 + Missense_Mutation SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:120165764C>T uc001ehy.1 - 3 1316 c.1202G>A c.(1201-1203)CGC>CAC p.R401H NM_001080470 NP_001073939 Q5TEC3 ZN697_HUMAN zinc finger protein 697 401 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266) Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577) CGTGTGCACGCGCTGGTGCTT 0.667 6 9 --- --- --- --- PASS ANKRD34A 284615 broad.mit.edu 37 1 145474241 145474241 + Missense_Mutation SNP G C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:145474241G>C uc001enq.1 + 4 2206 c.913G>C c.(913-915)GTG>CTG p.V305L NBPF10_uc001emp.3_Intron|LIX1L_uc001enr.2_5'Flank NM_001039888 NP_001034977 Q69YU3 AN34A_HUMAN ankyrin repeat domain 34 305 Pro-rich. 0 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGCGGAGAAAGTGACTAGCGG 0.637 6 38 --- --- --- --- PASS BOLA1 51027 broad.mit.edu 37 1 149871805 149871805 + Missense_Mutation SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:149871805G>A uc001etf.2 + 2 314 c.193G>A c.(193-195)GAG>AAG p.E65K NM_016074 NP_057158 Q9Y3E2 BOLA1_HUMAN bolA-like 1 65 extracellular region protein binding ovary(1) 1 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) GCCTGGCAGTGAGACTCACTT 0.677 7 17 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152281417 152281417 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:152281417G>T uc001ezu.1 - 3 5981 c.5945C>A c.(5944-5946)ACA>AAA p.T1982K NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1982 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGAAGACTCTGTGTGACGAGT 0.572 Ichthyosis 190 209 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152285257 152285257 + Nonsense_Mutation SNP G C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:152285257G>C uc001ezu.1 - 3 2141 c.2105C>G c.(2104-2106)TCA>TGA p.S702* uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 702 Filaggrin 4.|Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCTGCACTTGATCTTGCCTG 0.552 Ichthyosis 191 247 --- --- --- --- PASS YY1AP1 55249 broad.mit.edu 37 1 155629621 155629621 + Missense_Mutation SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:155629621C>T uc001fln.2 - 11 2242 c.2218G>A c.(2218-2220)GAG>AAG p.E740K YY1AP1_uc001flg.2_Missense_Mutation_p.E479K|YY1AP1_uc010pgg.1_Missense_Mutation_p.E579K|YY1AP1_uc010pgh.1_Missense_Mutation_p.E683K|YY1AP1_uc010pgi.1_Missense_Mutation_p.E832K|YY1AP1_uc001flh.2_Missense_Mutation_p.E812K|YY1AP1_uc009wqt.2_Missense_Mutation_p.E663K|YY1AP1_uc001flk.2_Missense_Mutation_p.E683K|YY1AP1_uc001fll.2_Missense_Mutation_p.E694K|YY1AP1_uc009wqv.2_Missense_Mutation_p.E411K|YY1AP1_uc001flm.2_Missense_Mutation_p.E683K|YY1AP1_uc001fli.2_Missense_Mutation_p.E694K|YY1AP1_uc009wqu.2_Missense_Mutation_p.E527K|YY1AP1_uc001flj.2_Missense_Mutation_p.E674K|YY1AP1_uc009wqw.2_Missense_Mutation_p.E663K|YY1AP1_uc001flo.2_Missense_Mutation_p.E628K|YY1AP1_uc001flp.2_Missense_Mutation_p.E694K NM_139118 NP_620829 Q9H869 YYAP1_HUMAN YY1-associated protein isoform 2 740 regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding ovary(2)|skin(1) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) GCACTGTTCTCTGACAATCCT 0.537 18 61 --- --- --- --- PASS TMEM79 84283 broad.mit.edu 37 1 156256056 156256056 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:156256056C>A uc010phi.1 + 3 959 c.763C>A c.(763-765)CTG>ATG p.L255M TMEM79_uc001fod.2_Missense_Mutation_p.L96M|TMEM79_uc009wrw.2_Missense_Mutation_p.L255M NM_032323 NP_115699 Q9BSE2 TMM79_HUMAN transmembrane protein 79 255 Helical; (Potential). integral to membrane central_nervous_system(1) 1 Hepatocellular(266;0.158) CCCAGGGATCCTGGTGTACGG 0.607 5 53 --- --- --- --- PASS OR10J5 127385 broad.mit.edu 37 1 159504988 159504988 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:159504988G>T uc010piw.1 - 1 810 c.810C>A c.(808-810)GAC>GAA p.D270E NM_001004469 NP_001004469 Q8NHC4 O10J5_HUMAN olfactory receptor, family 10, subfamily J, 270 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_hematologic(112;0.0429) AGAGAACAAGGTCTTTTTCTA 0.483 15 24 --- --- --- --- PASS ITLN2 142683 broad.mit.edu 37 1 160920480 160920480 + Missense_Mutation SNP G C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:160920480G>C uc001fxd.2 - 5 521 c.463C>G c.(463-465)CAG>GAG p.Q155E ITLN2_uc009wts.2_Missense_Mutation_p.Q154E|ITLN2_uc010pju.1_Missense_Mutation_p.Q72E NM_080878 NP_543154 Q8WWU7 ITLN2_HUMAN intelectin 2 precursor 155 Fibrinogen C-terminal. signal transduction extracellular region receptor binding|sugar binding ovary(1) 1 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) TCCTTGGCCTGGATGTCGTAG 0.592 7 46 --- --- --- --- PASS F5 2153 broad.mit.edu 37 1 169519234 169519234 + Missense_Mutation SNP G C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:169519234G>C uc001ggg.1 - 10 1561 c.1416C>G c.(1414-1416)ATC>ATG p.I472M F5_uc010plr.1_RNA NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 472 F5/8 type A 2.|Plastocyanin-like 3. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GAACTGCTCTGATCATGGTGT 0.343 30 50 --- --- --- --- PASS TNN 63923 broad.mit.edu 37 1 175046647 175046647 + Silent SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:175046647C>A uc001gkl.1 + 2 206 c.93C>A c.(91-93)CCC>CCA p.P31P TNN_uc010pmx.1_Silent_p.P31P NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 31 cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) TGGAGCCTCCCGGCTGCAGCA 0.602 16 18 --- --- --- --- PASS TNR 7143 broad.mit.edu 37 1 175306756 175306756 + Missense_Mutation SNP A C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:175306756A>C uc001gkp.1 - 17 3523 c.3442T>G c.(3442-3444)TTG>GTG p.L1148V TNR_uc009wwu.1_Missense_Mutation_p.L1148V NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 1148 Fibrinogen C-terminal. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) ACCCCACTCAAAGTGTCTCCA 0.502 13 28 --- --- --- --- PASS FAM5B 57795 broad.mit.edu 37 1 177249554 177249554 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:177249554G>T uc001glf.2 + 8 1554 c.1242G>T c.(1240-1242)TTG>TTT p.L414F FAM5B_uc001glg.2_Missense_Mutation_p.L309F NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN family with sequence similarity 5, member B 414 extracellular region skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 CAAGGTCCTTGTCCTACTGGT 0.522 5 31 --- --- --- --- PASS APOBEC4 403314 broad.mit.edu 37 1 183617058 183617058 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:183617058G>T uc001gqn.2 - 2 1131 c.859C>A c.(859-861)CTC>ATC p.L287I RGL1_uc010pof.1_Intron|RGL1_uc001gqm.2_Intron|RGL1_uc010pog.1_Intron|RGL1_uc010poh.1_Intron NM_203454 NP_982279 Q8WW27 ABEC4_HUMAN apolipoprotein B 287 mRNA processing hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding 0 GGAGCCCTGAGGTCTGGAGGT 0.483 5 52 --- --- --- --- PASS CHIT1 1118 broad.mit.edu 37 1 203192298 203192298 + Silent SNP A G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:203192298A>G uc001gzn.2 - 6 666 c.570T>C c.(568-570)TAT>TAC p.Y190Y FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_Intron|CHIT1_uc009xal.1_5'UTR|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Silent_p.Y181Y NM_003465 NP_003456 Q13231 CHIT1_HUMAN chitotriosidase precursor 190 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity 0 CAGCATCCACATAGGTCTGCC 0.582 44 92 --- --- --- --- PASS ZC3H11A 9877 broad.mit.edu 37 1 203809458 203809458 + Missense_Mutation SNP A T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:203809458A>T uc001hac.2 + 14 1614 c.998A>T c.(997-999)GAG>GTG p.E333V ZC3H11A_uc001had.2_Missense_Mutation_p.E333V|ZC3H11A_uc001hae.2_Missense_Mutation_p.E333V|ZC3H11A_uc001haf.2_Missense_Mutation_p.E333V|ZC3H11A_uc010pqm.1_Missense_Mutation_p.E279V|ZC3H11A_uc001hag.1_Missense_Mutation_p.E333V NM_014827 NP_055642 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 333 nucleic acid binding|protein binding|zinc ion binding lung(1)|central_nervous_system(1) 2 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) TCTCTTAAGGAGCGATTAGGC 0.333 30 96 --- --- --- --- PASS PSEN2 5664 broad.mit.edu 37 1 227071548 227071548 + Missense_Mutation SNP T C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:227071548T>C uc009xeo.1 + 5 711 c.284T>C c.(283-285)GTC>GCC p.V95A PSEN2_uc009xep.1_Missense_Mutation_p.V95A|PSEN2_uc001hqk.2_RNA NM_000447 NP_000438 P49810 PSN2_HUMAN presenilin 2 isoform 1 95 Helical; (Potential). amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc aspartic-type endopeptidase activity|protein binding lung(2) 2 Prostate(94;0.0771) TTTGTGCCTGTCACTCTGTGC 0.592 14 114 --- --- --- --- PASS CDC42BPA 8476 broad.mit.edu 37 1 227203781 227203781 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:227203781C>A uc001hqr.2 - 33 5695 c.4752G>T c.(4750-4752)ATG>ATT p.M1584I CDC42BPA_uc001hqq.2_Missense_Mutation_p.M883I|CDC42BPA_uc001hqs.2_Missense_Mutation_p.M1503I|CDC42BPA_uc009xes.2_Missense_Mutation_p.M1556I|CDC42BPA_uc010pvs.1_Missense_Mutation_p.M1564I|CDC42BPA_uc001hqp.2_Missense_Mutation_p.M740I|CDC42BPA_uc001hqt.2_Missense_Mutation_p.M462I NM_003607 NP_003598 Q5VT25 MRCKA_HUMAN CDC42-binding protein kinase alpha isoform B 1597 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1) 11 all_cancers(173;0.156)|Prostate(94;0.0792) TTCCTCTTACCATGGGCAGAT 0.378 5 38 --- --- --- --- PASS TRIM67 440730 broad.mit.edu 37 1 231344869 231344869 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:231344869C>A uc009xfn.1 + 8 2038 c.1996C>A c.(1996-1998)CCC>ACC p.P666T NM_001004342 NP_001004342 Q6ZTA4 TRI67_HUMAN tripartite motif-containing 67 666 B30.2/SPRY. cytoplasm|cytoskeleton zinc ion binding ovary(2)|breast(1)|kidney(1) 4 Breast(184;0.0871) all_cancers(173;0.189)|Prostate(94;0.167) CCACCCAGACCCCGCCTTCGG 0.632 6 54 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237756920 237756920 + Missense_Mutation SNP G C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:237756920G>C uc001hyl.1 + 33 4540 c.4420G>C c.(4420-4422)GGA>CGA p.G1474R NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1474 Cytoplasmic (By similarity).|B30.2/SPRY 3.|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AGATGAAAAAGGAAAAGTGCA 0.383 4 43 --- --- --- --- PASS ZP4 57829 broad.mit.edu 37 1 238050715 238050715 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:238050715G>T uc001hym.2 - 5 700 c.700C>A c.(700-702)CTG>ATG p.L234M LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 234 ZP.|Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) AACTGGAACAGAACAAAAGCT 0.517 18 104 --- --- --- --- PASS AHCTF1 25909 broad.mit.edu 37 1 247040362 247040362 + Nonsense_Mutation SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:247040362G>A uc001ibu.1 - 22 2834 c.2827C>T c.(2827-2829)CAG>TAG p.Q943* AHCTF1_uc001ibv.1_Nonsense_Mutation_p.Q952*|AHCTF1_uc009xgs.1_5'UTR|AHCTF1_uc001ibw.1_RNA NM_015446 NP_056261 Q8WYP5 ELYS_HUMAN transcription factor ELYS 943 Necessary for cytoplasmic localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding ovary(5)|skin(2) 7 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) GCACTGGACTGCAAAAATTTC 0.368 6 23 --- --- --- --- PASS OR6F1 343169 broad.mit.edu 37 1 247875683 247875683 + Silent SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:247875683G>A uc001idj.1 - 1 375 c.375C>T c.(373-375)GCC>GCT p.A125A NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, 125 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GATAGCAGATGGCAAGACAGC 0.517 6 30 --- --- --- --- PASS EHD3 30845 broad.mit.edu 37 2 31483532 31483532 + Missense_Mutation SNP A C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr2:31483532A>C uc002rnu.2 + 4 1267 c.659A>C c.(658-660)AAA>ACA p.K220T EHD3_uc010ymt.1_Intron NM_014600 NP_055415 Q9NZN3 EHD3_HUMAN EH-domain containing 3 220 Potential. ATP (By similarity). blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding skin(2) 2 Acute lymphoblastic leukemia(172;0.155) GTGCTGAACAAAGCTGACCAG 0.552 3 45 --- --- --- --- PASS SOS1 6654 broad.mit.edu 37 2 39240652 39240652 + Nonsense_Mutation SNP T A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr2:39240652T>A uc002rrk.3 - 13 2157 c.2116A>T c.(2116-2118)AGA>TGA p.R706* SOS1_uc002rrj.3_Nonsense_Mutation_p.R320* NM_005633 NP_005624 Q07889 SOS1_HUMAN son of sevenless homolog 1 706 N-terminal Ras-GEF. apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(4)|breast(3)|lung(2)|central_nervous_system(1) 10 all_hematologic(82;0.21) TATGCATCTCTTTCAAAATCA 0.323 Noonan_syndrome 8 40 --- --- --- --- PASS LHCGR 3973 broad.mit.edu 37 2 48915114 48915114 + Silent SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr2:48915114G>A uc002rwu.3 - 11 1892 c.1822C>T c.(1822-1824)CTG>TTG p.L608L GTF2A1L_uc002rwt.2_Intron NM_000233 NP_000224 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 608 Helical; Name=7; (Potential). Missing (in LHR; Leydig cell hypoplasia type 1). male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity ovary(3)|lung(2)|breast(2)|skin(1) 8 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) AAAAGAACCAGTAAAACTTTA 0.373 Familial_Male-Limited_Precocious_Puberty 11 64 --- --- --- --- PASS VPS54 51542 broad.mit.edu 37 2 64169644 64169644 + Silent SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr2:64169644G>A uc002scq.2 - 11 1516 c.1353C>T c.(1351-1353)CTC>CTT p.L451L VPS54_uc002scp.2_Silent_p.L439L|VPS54_uc010fct.2_Silent_p.L298L NM_016516 NP_057600 Q9P1Q0 VPS54_HUMAN vacuolar protein sorting 54 isoform 1 451 protein transport|retrograde transport, endosome to Golgi 0 AAATATCCTTGAGCAGATCAA 0.328 5 11 --- --- --- --- PASS C2orf3 6936 broad.mit.edu 37 2 75923427 75923427 + Silent SNP A G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr2:75923427A>G uc002sno.2 - 5 862 c.732T>C c.(730-732)GAT>GAC p.D244D C2orf3_uc010ffs.2_5'UTR|C2orf3_uc002snn.2_Silent_p.D75D|C2orf3_uc010fft.2_Intron NM_003203 NP_003194 P16383 GCF_HUMAN hypothetical protein LOC6936 244 negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 CACAGGAAAGATCTATGTCTC 0.249 20 21 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89247008 89247008 + RNA SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr2:89247008C>A uc010ytr.1 - 101 c.8051G>T uc002stl.2_Intron Parts of antibodies, mostly variable regions. ACCAGGCCAACCAGCTACTAA 0.522 44 151 --- --- --- --- PASS MAP4K4 9448 broad.mit.edu 37 2 102499117 102499117 + Missense_Mutation SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr2:102499117G>A uc002tbg.2 + 25 3110 c.3055G>A c.(3055-3057)GAT>AAT p.D1019N MAP4K4_uc002tbc.2_Missense_Mutation_p.D1100N|MAP4K4_uc002tbd.2_Missense_Mutation_p.D992N|MAP4K4_uc002tbe.2_Missense_Mutation_p.D938N|MAP4K4_uc002tbf.2_Missense_Mutation_p.D1053N|MAP4K4_uc010yvy.1_Missense_Mutation_p.D1015N|MAP4K4_uc002tbh.2_Missense_Mutation_p.D937N|MAP4K4_uc002tbi.2_Missense_Mutation_p.D822N|MAP4K4_uc010yvz.1_Missense_Mutation_p.D1059N|MAP4K4_uc002tbk.2_Missense_Mutation_p.D474N|MAP4K4_uc002tbl.2_Missense_Mutation_p.D205N NM_145687 NP_663720 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase 1019 CNH.|Mediates interaction with RAP2A. intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity stomach(1)|lung(1)|central_nervous_system(1)|skin(1) 4 AACCGTAGGGGATTTGGAAGG 0.333 44 73 --- --- --- --- PASS GPR39 2863 broad.mit.edu 37 2 133402693 133402693 + Silent SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr2:133402693G>A uc002ttl.2 + 2 1345 c.876G>A c.(874-876)TTG>TTA p.L292L LYPD1_uc002ttm.3_3'UTR|LYPD1_uc002ttn.2_3'UTR|LYPD1_uc002tto.2_3'UTR NM_001508 NP_001499 O43194 GPR39_HUMAN G protein-coupled receptor 39 292 Helical; Name=6; (Potential). integral to plasma membrane G-protein coupled receptor activity|metal ion binding 0 TTGTGACATTGGCCGTATGCT 0.512 12 36 --- --- --- --- PASS LCT 3938 broad.mit.edu 37 2 136575393 136575393 + Missense_Mutation SNP T G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr2:136575393T>G uc002tuu.1 - 6 1236 c.1225A>C c.(1225-1227)AGC>CGC p.S409R NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 409 Extracellular (Potential).|4 X approximate repeats.|2. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) TCCCAGATGCTCACCCCTCTC 0.627 17 34 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141055532 141055532 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr2:141055532G>T uc002tvj.1 - 84 13784 c.12812C>A c.(12811-12813)CCC>CAC p.P4271H NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4271 Extracellular (Potential).|EGF-like 11. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GCTGCAGGTGGGTCTCCCTAT 0.343 TSP Lung(27;0.18) 12 60 --- --- --- --- PASS ZEB2 9839 broad.mit.edu 37 2 145157348 145157348 + Missense_Mutation SNP T A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr2:145157348T>A uc002tvu.2 - 8 1886 c.1406A>T c.(1405-1407)AAT>ATT p.N469I ZEB2_uc002tvv.2_Missense_Mutation_p.N463I|ZEB2_uc010zbm.1_Missense_Mutation_p.N440I|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.N498I NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 469 SMAD-MH2 binding domain (By similarity). cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) GGAAACAGTATTGTCCACAAT 0.418 27 36 --- --- --- --- PASS SCN1A 6323 broad.mit.edu 37 2 166895999 166895999 + Silent SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr2:166895999C>A uc010zcz.1 - 14 2508 c.2490G>T c.(2488-2490)ACG>ACT p.T830T SCN1A_uc002udo.3_Silent_p.T710T|SCN1A_uc010fpk.2_Silent_p.T682T NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 841 II.|Helical; Name=S3 of repeat II; (By similarity). voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CCAGGCTAAGCGTCACAATAA 0.363 20 36 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170042418 170042418 + Missense_Mutation SNP T C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr2:170042418T>C uc002ues.2 - 50 9653 c.9440A>G c.(9439-9441)AAG>AGG p.K3147R NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 3147 EGF-like 11.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ACAAGTCCGCTTGTCAGACAT 0.463 26 55 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179406245 179406245 + Missense_Mutation SNP C G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr2:179406245C>G uc010zfg.1 - 299 90079 c.89855G>C c.(89854-89856)TGG>TCG p.W29952S uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.W23647S|TTN_uc010zfi.1_Missense_Mutation_p.W23580S|TTN_uc010zfj.1_Missense_Mutation_p.W23455S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 30879 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) TGGTGGGTACCAAGTAAGTGT 0.473 7 28 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179479401 179479401 + Silent SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr2:179479401G>T uc010zfg.1 - 210 41360 c.41136C>A c.(41134-41136)GCC>GCA p.A13712A uc002ump.1_RNA|TTN_uc010zfh.1_Silent_p.A7407A|TTN_uc010zfi.1_Silent_p.A7340A|TTN_uc010zfj.1_Silent_p.A7215A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 14639 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) CGGTTACGGTGGCAGGAAGTT 0.413 10 23 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179544074 179544074 + Missense_Mutation SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr2:179544074G>A uc010zfg.1 - 139 30226 c.30002C>T c.(30001-30003)CCA>CTA p.P10001L TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6662L|TTN_uc010fre.1_Intron|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 10928 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) ACCTTTTGCTGGCGGAGGCTT 0.408 8 19 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179623783 179623783 + Missense_Mutation SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr2:179623783C>T uc010zfg.1 - 44 10455 c.10231G>A c.(10231-10233)GAA>AAA p.E3411K TTN_uc010zfh.1_Missense_Mutation_p.E3365K|TTN_uc010zfi.1_Missense_Mutation_p.E3365K|TTN_uc010zfj.1_Missense_Mutation_p.E3365K|TTN_uc002umz.1_Missense_Mutation_p.E72K|TTN_uc002unb.2_Missense_Mutation_p.E3411K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) TAAGTTCCTTCATCTTCTGGA 0.408 15 42 --- --- --- --- PASS ZSWIM2 151112 broad.mit.edu 37 2 187712502 187712502 + Missense_Mutation SNP G C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr2:187712502G>C uc002upu.1 - 2 226 c.186C>G c.(184-186)CAC>CAG p.H62Q NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM domain containing 2 62 SWIM-type. apoptosis zinc ion binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) AGTTACAAACGTGAGGATTTC 0.343 22 31 --- --- --- --- PASS MAP2 4133 broad.mit.edu 37 2 210558495 210558495 + Missense_Mutation SNP A C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr2:210558495A>C uc002vde.1 + 7 1849 c.1601A>C c.(1600-1602)CAG>CCG p.Q534P MAP2_uc002vdc.1_Missense_Mutation_p.Q534P|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.Q530P NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 534 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) AGCTCAATTCAGGAACTTTTT 0.388 16 47 --- --- --- --- PASS CNTN6 27255 broad.mit.edu 37 3 1363343 1363343 + Silent SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr3:1363343C>T uc003boz.2 + 8 1038 c.771C>T c.(769-771)CCC>CCT p.P257P CNTN6_uc011asj.1_Silent_p.P185P|CNTN6_uc003bpa.2_Silent_p.P257P NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 257 Ig-like C2-type 3. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) GTCCAGTCCCCGATATTAGTT 0.418 17 11 --- --- --- --- PASS SRGAP3 9901 broad.mit.edu 37 3 9027423 9027423 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr3:9027423C>A uc003brf.1 - 22 3756 c.3080G>T c.(3079-3081)CGC>CTC p.R1027L SRGAP3_uc003brg.1_Missense_Mutation_p.R1003L NM_014850 NP_055665 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 1027 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(4) central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(96;0.0563) GCTGCTGCTGCGGCGCATGGC 0.721 T RAF1 pilocytic astrocytoma 4 25 --- --- --- --- PASS TMEM40 55287 broad.mit.edu 37 3 12780076 12780076 + Nonsense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr3:12780076C>A uc003bxg.1 - 6 494 c.367G>T c.(367-369)GAG>TAG p.E123* TMEM40_uc003bxh.1_Nonsense_Mutation_p.E93*|TMEM40_uc003bxi.1_Nonsense_Mutation_p.E47*|TMEM40_uc011auv.1_Nonsense_Mutation_p.E139* NM_018306 NP_060776 Q8WWA1 TMM40_HUMAN transmembrane protein 40 123 integral to membrane 0 GGTACCACCTCTCCAGGAGCA 0.547 7 135 --- --- --- --- PASS GLB1 2720 broad.mit.edu 37 3 33109729 33109729 + Silent SNP G A A rs140353187 by1000genomes TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr3:33109729G>A uc003cfi.1 - 4 567 c.450C>T c.(448-450)TCC>TCT p.S150S GLB1_uc003cfh.1_Silent_p.S120S|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Silent_p.S198S NM_000404 NP_000395 P16278 BGAL_HUMAN galactosidase, beta 1 isoform a preproprotein 150 carbohydrate metabolic process lysosome|perinuclear region of cytoplasm beta-galactosidase activity|cation binding|protein binding large_intestine(1) 1 Melanoma(143;0.104) TACCTGGGTCGGAGGAGCGGA 0.348 18 75 --- --- --- --- PASS CTNNB1 1499 broad.mit.edu 37 3 41266094 41266094 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr3:41266094C>A uc010hia.1 + 4 247 c.91C>A c.(91-93)CTG>ATG p.L31M CTNNB1_uc003ckp.2_Missense_Mutation_p.L31M|CTNNB1_uc003ckq.2_Missense_Mutation_p.L31M|CTNNB1_uc003ckr.2_Missense_Mutation_p.L31M|CTNNB1_uc011azf.1_Missense_Mutation_p.L24M|CTNNB1_uc011azg.1_Intron|uc010hib.1_RNA NM_001904 NP_001895 P35222 CTNB1_HUMAN beta-catenin 31 Missing (in 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.A5_A80del(63)|p.H24_S47del(9)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.WQQQSYLD25?(5)|p.L31L(4)|p.W25_D32del(4)|p.W25_I140del(4)|p.S23_S33del(3)|p.V22_G38del(3)|p.T3_A126del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.W25_H36del(2)|p.V22_L139>V(2)|p.M5_N141>D(2)|p.?(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A20_Q143del(1)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.A5_Q72del(1)|p.S29_H36del(1)|p.M14_S45del(1)|p.Q28_D32>H(1)|p.E9_S47del(1)|p.A5_G80>(1)|p.A20_N141del(1)|p.M8_G50del(1)|p.M1_A87del(1)|p.L31W(1)|p.D11_Y142>H(1)|p.D6_A43del(1)|p.A5_D144>D(1)|p.A5_T42del(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.V22_G80>NNNNN(1)|p.H24_L31del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.D6_K133del(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.L31Q(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.W25_A80del(1)|p.A5_R90del(1)|p.S23_A39del(1)|p.D17_P128del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.A20_R151del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.E9_A80del(1)|p.K19_Y142>V(1)|p.A5_E54del(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.E9_I140del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.A20_Q72del(1)|p.D6_I140del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.Q28_I140del(1)|p.D17_A126del(1)|p.M1_T42del(1)|p.A5_I35del(1)|p.S23_I140del(1)|p.L7_I140del(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) ACAGTCTTACCTGGACTCTGG 0.478 15 H|Mis|T PLAG1 colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma Pilomatrixoma_Familial_Clustering_of 6 22 --- --- --- --- PASS ZNF502 91392 broad.mit.edu 37 3 44763768 44763768 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr3:44763768G>T uc011baa.1 + 4 1714 c.1459G>T c.(1459-1461)GGT>TGT p.G487C ZNF502_uc003cns.2_Missense_Mutation_p.G487C|ZNF502_uc011bab.1_Missense_Mutation_p.G487C|ZNF502_uc003cnt.2_Missense_Mutation_p.G487C NM_001134440 NP_001127912 Q8TBZ5 ZN502_HUMAN zinc finger protein 502 487 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589) AACTCACACTGGTGAGAAGCT 0.398 5 37 --- --- --- --- PASS NBEAL2 23218 broad.mit.edu 37 3 47030752 47030752 + Silent SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr3:47030752G>T uc003cqp.2 + 5 533 c.354G>T c.(352-354)CTG>CTT p.L118L NBEAL2_uc003cqq.1_Silent_p.L111L NM_015175 NP_055990 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 118 binding ovary(1) 1 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) ACCTACAGCTGAAAGGATGCC 0.622 7 5 --- --- --- --- PASS P4HTM 54681 broad.mit.edu 37 3 49044337 49044337 + Silent SNP C G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr3:49044337C>G uc003cvg.2 + 9 1855 c.1506C>G c.(1504-1506)CTC>CTG p.L502L P4HTM_uc003cvh.2_Silent_p.L563L|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank NM_177939 NP_808808 Q9NXG6 P4HTM_HUMAN hypoxia-inducible factor prolyl 4-hydroxylase 502 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen skin(1)|pancreas(1) 2 Vitamin C(DB00126) GCGTGGAACTCTGAGGGAAGA 0.657 5 5 --- --- --- --- PASS IMPDH2 3615 broad.mit.edu 37 3 49065169 49065169 + Missense_Mutation SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr3:49065169C>T uc003cvt.2 - 5 597 c.505G>A c.(505-507)GAG>AAG p.E169K NM_000884 NP_000875 P12268 IMDH2_HUMAN inosine monophosphate dehydrogenase 2 169 CBS 1. GMP biosynthetic process|purine base metabolic process cytosol|nucleus IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157) TCATGTTCCTCCTCTTTGAGA 0.537 33 36 --- --- --- --- PASS GRM2 2912 broad.mit.edu 37 3 51746554 51746554 + Silent SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr3:51746554G>T uc010hlv.2 + 3 755 c.516G>T c.(514-516)CTG>CTT p.L172L GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA NM_000839 NP_000830 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 isoform a 172 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) GTGCCAAGCTGAGTGACAAGT 0.542 5 65 --- --- --- --- PASS IQCF2 389123 broad.mit.edu 37 3 51897351 51897351 + Missense_Mutation SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr3:51897351C>T uc003dbt.1 + 3 498 c.460C>T c.(460-462)CAC>TAC p.H154Y IQCF1_uc003dbq.3_Intron|IQCF2_uc003dbu.1_RNA NM_203424 NP_982248 Q8IXL9 IQCF2_HUMAN IQ motif containing F2 154 0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CACAGCCACTCACCTGCAGTT 0.547 55 59 --- --- --- --- PASS ITIH1 3697 broad.mit.edu 37 3 52813520 52813520 + Missense_Mutation SNP G C C rs35394357 byFrequency TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr3:52813520G>C uc003dfs.2 + 5 507 c.483G>C c.(481-483)CAG>CAC p.Q161H ITIH1_uc010hmn.1_RNA NM_002215 NP_002206 P19827 ITIH1_HUMAN inter-alpha (globulin) inhibitor H1 161 VIT. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) TCACGTTTCAGCTGACTTATG 0.498 14 55 --- --- --- --- PASS PRKCD 5580 broad.mit.edu 37 3 53223900 53223900 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr3:53223900G>T uc003dgl.2 + 18 2108 c.1755G>T c.(1753-1755)AGG>AGT p.R585S PRKCD_uc003dgm.2_Missense_Mutation_p.R585S NM_006254 NP_006245 Q05655 KPCD_HUMAN protein kinase C, delta 585 Protein kinase. activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction cytosol|endoplasmic reticulum|nucleoplasm ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding central_nervous_system(4)|lung(3)|stomach(1)|skin(1) 9 Ovarian(412;0.0728) OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173) TCTTTGAAAGGGAACCAACCA 0.547 7 145 --- --- --- --- PASS TKT 7086 broad.mit.edu 37 3 53275207 53275207 + Nonsense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr3:53275207C>A uc003dgo.2 - 3 390 c.280G>T c.(280-282)GAG>TAG p.E94* TKT_uc011beo.1_Nonsense_Mutation_p.E47*|TKT_uc003dgq.2_Nonsense_Mutation_p.E94*|TKT_uc011beq.1_Nonsense_Mutation_p.E94*|TKT_uc011ber.1_5'UTR|TKT_uc011bep.1_Intron NM_001135055 NP_001128527 P29401 TKT_HUMAN transketolase isoform 1 94 energy reserve metabolic process|xylulose biosynthetic process cytosol protein binding|transketolase activity ovary(2) 2 Prostate(884;0.0959) BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201) Thiamine(DB00152) AGCTCCGCCTCGGCCAGGAAA 0.657 5 39 --- --- --- --- PASS EPHA3 2042 broad.mit.edu 37 3 89462338 89462338 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr3:89462338G>T uc003dqy.2 + 10 2035 c.1810G>T c.(1810-1812)GAC>TAC p.D604Y EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 604 Cytoplasmic (Potential). extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) TACATATGAAGACCCTACCCA 0.418 TSP Lung(6;0.00050) 6 17 --- --- --- --- PASS GPR128 84873 broad.mit.edu 37 3 100373724 100373724 + Silent SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr3:100373724C>T uc003duc.2 + 12 1693 c.1425C>T c.(1423-1425)TGC>TGT p.C475C GPR128_uc011bhc.1_Silent_p.C176C|GPR128_uc003dud.2_5'UTR NM_032787 NP_116176 Q96K78 GP128_HUMAN G protein-coupled receptor 128 precursor 475 Helical; Name=2; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(1) 4 TCAATCTGTGCATATCAATGT 0.313 6 78 --- --- --- --- PASS FAM55C 91775 broad.mit.edu 37 3 101540798 101540798 + Nonstop_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr3:101540798G>T uc003dvn.2 + 8 2317 c.1680G>T c.(1678-1680)TAG>TAT p.*560Y FAM55C_uc010hpn.2_Nonstop_Mutation_p.*560Y NM_145037 NP_659474 Q969Y0 FA55C_HUMAN hypothetical protein LOC91775 precursor 560 extracellular region ovary(1)|pancreas(1)|skin(1) 3 TGGAAACCTAGCCTGTCTTGG 0.478 26 67 --- --- --- --- PASS MYH15 22989 broad.mit.edu 37 3 108163569 108163569 + Missense_Mutation SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr3:108163569G>A uc003dxa.1 - 23 2690 c.2633C>T c.(2632-2634)TCA>TTA p.S878L NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 878 Potential. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 CTGAAACTCTGATTTCTCCAA 0.433 7 93 --- --- --- --- PASS CD96 10225 broad.mit.edu 37 3 111296348 111296348 + Splice_Site SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr3:111296348G>T uc003dxw.2 + 4 714 c.544_splice c.e4-1 p.E182_splice CD96_uc003dxv.2_Intron|CD96_uc003dxx.2_Intron|CD96_uc010hpy.1_Intron NM_198196 NP_937839 P40200 TACT_HUMAN CD96 antigen isoform 1 precursor cell adhesion|immune response|regulation of immune response integral to plasma membrane skin(2)|central_nervous_system(1) 3 TTCTTCCTTAGGAAAACAGCA 0.423 Opitz_Trigonocephaly_syndrome 9 203 --- --- --- --- PASS PLCXD2 257068 broad.mit.edu 37 3 111427219 111427219 + Missense_Mutation SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr3:111427219G>A uc003dya.2 + 2 1196 c.610G>A c.(610-612)GAG>AAG p.E204K PLCXD2_uc003dyb.2_Missense_Mutation_p.E204K|PLCXD2_uc003dxz.2_Missense_Mutation_p.E204K NM_001134478 NP_001127950 Q0VAA5 PLCX2_HUMAN phosphatidylinositol-specific phospholipase C, X 204 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity skin(1) 1 AACTCTGTGGGAGAAGAACTG 0.498 13 86 --- --- --- --- PASS PHLDB2 90102 broad.mit.edu 37 3 111603433 111603433 + Missense_Mutation SNP G C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr3:111603433G>C uc010hqa.2 + 2 920 c.509G>C c.(508-510)CGG>CCG p.R170P PHLDB2_uc003dyc.2_Missense_Mutation_p.R197P|PHLDB2_uc003dyd.2_Missense_Mutation_p.R170P|PHLDB2_uc003dyg.2_Missense_Mutation_p.R170P|PHLDB2_uc003dyh.2_Missense_Mutation_p.R170P|PHLDB2_uc003dye.3_Missense_Mutation_p.R170P|PHLDB2_uc003dyf.3_Missense_Mutation_p.R170P NM_001134438 NP_001127910 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, 170 cytoplasm|intermediate filament cytoskeleton|plasma membrane ovary(4)|skin(2) 6 CTGGAAGGTCGGAAGGCATCT 0.547 21 121 --- --- --- --- PASS ADPRH 141 broad.mit.edu 37 3 119306567 119306567 + Missense_Mutation SNP A G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr3:119306567A>G uc003ecs.2 + 5 1214 c.916A>G c.(916-918)ACA>GCA p.T306A ADPRH_uc010hqv.2_Missense_Mutation_p.T306A|ADPRH_uc011bjb.1_Missense_Mutation_p.T199A|ADPRH_uc003ect.2_Missense_Mutation_p.T306A NM_001125 NP_001116 P54922 ADPRH_HUMAN ADP-ribosylarginine hydrolase 306 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding ovary(1) 1 Lung NSC(201;0.0977) GBM - Glioblastoma multiforme(114;0.23) CAGTGATTCTACAGCTGCCAT 0.512 38 30 --- --- --- --- PASS ARGFX 503582 broad.mit.edu 37 3 121305099 121305099 + Silent SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr3:121305099C>A uc003eef.2 + 5 695 c.600C>A c.(598-600)ACC>ACA p.T200T NM_001012659 NP_001012677 A6NJG6 ARGFX_HUMAN arginine-fifty homeobox 200 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(114;0.152) AGAGTTCTACCAGTGACTTCC 0.463 7 168 --- --- --- --- PASS FBXO40 51725 broad.mit.edu 37 3 121341598 121341598 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr3:121341598G>T uc003eeg.2 + 3 1532 c.1322G>T c.(1321-1323)GGG>GTG p.G441V NM_016298 NP_057382 Q9UH90 FBX40_HUMAN F-box protein 40 441 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(114;0.189) TTTTCCTCTGGGACAGTGCTG 0.532 7 98 --- --- --- --- PASS GOLGB1 2804 broad.mit.edu 37 3 121414463 121414463 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr3:121414463C>A uc003eei.3 - 13 5018 c.4892G>T c.(4891-4893)AGG>ATG p.R1631M GOLGB1_uc010hrc.2_Missense_Mutation_p.R1636M|GOLGB1_uc003eej.3_Missense_Mutation_p.R1597M|GOLGB1_uc011bjm.1_Missense_Mutation_p.R1517M|GOLGB1_uc010hrd.1_Missense_Mutation_p.R1595M NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 1631 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) ATGCTGAATCCTTTCTGCTTC 0.413 8 143 --- --- --- --- PASS TMEM108 66000 broad.mit.edu 37 3 133098900 133098900 + Silent SNP A G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr3:133098900A>G uc003eph.2 + 4 619 c.345A>G c.(343-345)ACA>ACG p.T115T TMEM108_uc003epi.2_Silent_p.T115T|TMEM108_uc003epj.1_Silent_p.T115T|TMEM108_uc003epk.2_Intron|TMEM108_uc003epm.2_Silent_p.T66T NM_023943 NP_076432 Q6UXF1 TM108_HUMAN transmembrane protein 108 precursor 115 Pro-rich.|Extracellular (Potential). integral to membrane ovary(2)|skin(2) 4 CCCTGTCCACAGGGCCCGCTC 0.667 8 40 --- --- --- --- PASS PCCB 5096 broad.mit.edu 37 3 136012597 136012597 + Splice_Site SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr3:136012597G>T uc003eqy.1 + 7 706 c.655_splice c.e7-1 p.D219_splice PCCB_uc003eqz.1_Splice_Site_p.D219_splice|PCCB_uc011bmc.1_Splice_Site_p.D239_splice|PCCB_uc011bmd.1_Splice_Site_p.D136_splice NM_000532 NP_000523 P05166 PCCB_HUMAN propionyl Coenzyme A carboxylase, beta fatty acid beta-oxidation mitochondrial matrix ATP binding|propionyl-CoA carboxylase activity 0 Biotin(DB00121)|L-Valine(DB00161) TTTTATTTCAGGACACCTCCT 0.493 7 213 --- --- --- --- PASS RBP2 5948 broad.mit.edu 37 3 139172003 139172003 + Silent SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr3:139172003C>A uc003eth.2 - 4 411 c.360G>T c.(358-360)CTG>CTT p.L120L NM_004164 NP_004155 P50120 RET2_HUMAN retinol binding protein 2, cellular 120 epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process cytosol retinal binding|retinol binding|transporter activity skin(1) 1 Vitamin A(DB00162) CACCACAGGTCAGCTCCTGCA 0.582 10 60 --- --- --- --- PASS TFDP2 7029 broad.mit.edu 37 3 141682763 141682763 + Nonsense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr3:141682763C>A uc003eun.3 - 10 1154 c.775G>T c.(775-777)GAG>TAG p.E259* TFDP2_uc003euk.3_Nonsense_Mutation_p.E172*|TFDP2_uc010hur.2_Nonsense_Mutation_p.E199*|TFDP2_uc003eul.3_Nonsense_Mutation_p.E199*|TFDP2_uc011bnf.1_Nonsense_Mutation_p.E162*|TFDP2_uc011bng.1_Nonsense_Mutation_p.E123*|TFDP2_uc003eum.3_Nonsense_Mutation_p.E199* NM_006286 NP_006277 Q14188 TFDP2_HUMAN transcription factor Dp-2 (E2F dimerization 259 Dimerization (Potential).|DCB1. cell cycle transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding kidney(1) 1 TTTTGCTGCTCATTTTGTCGA 0.393 7 140 --- --- --- --- PASS TTC14 151613 broad.mit.edu 37 3 180322794 180322794 + Missense_Mutation SNP A T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr3:180322794A>T uc003fkk.2 + 6 988 c.856A>T c.(856-858)AGC>TGC p.S286C TTC14_uc003fkl.2_Missense_Mutation_p.S286C|TTC14_uc003fkm.2_Missense_Mutation_p.S286C NM_133462 NP_597719 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 isoform a 286 RNA binding ovary(1) 1 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) AGGCCTACAAAGGTATAGTAC 0.413 10 22 --- --- --- --- PASS ATP13A3 79572 broad.mit.edu 37 3 194168693 194168693 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr3:194168693G>T uc003fty.3 - 12 1598 c.1196C>A c.(1195-1197)CCC>CAC p.P399H ATP13A3_uc003ftz.1_Missense_Mutation_p.P105H NM_024524 NP_078800 Q9H7F0 AT133_HUMAN ATPase type 13A3 399 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(1) 1 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) AGTTGGTTTGGGATACAATAT 0.323 9 293 --- --- --- --- PASS PIGZ 80235 broad.mit.edu 37 3 196675077 196675077 + Missense_Mutation SNP G C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr3:196675077G>C uc003fxh.2 - 3 838 c.691C>G c.(691-693)CTG>GTG p.L231V NM_025163 NP_079439 Q86VD9 PIGZ_HUMAN phosphatidylinositol glycan anchor biosynthesis, 231 Helical; (Potential). GPI anchor biosynthetic process integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity ovary(3) 3 all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00603) GCAAAGGCCAGAAAGGTGGGC 0.657 26 18 --- --- --- --- PASS MFSD7 84179 broad.mit.edu 37 4 677144 677144 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr4:677144G>T uc003gay.2 - 8 1066 c.1009C>A c.(1009-1011)CAG>AAG p.Q337K MFSD7_uc003gaw.2_Missense_Mutation_p.Q79K|MFSD7_uc003gax.2_Missense_Mutation_p.Q336K|MFSD7_uc003gaz.2_Missense_Mutation_p.Q218K|MFSD7_uc003gba.2_Missense_Mutation_p.Q240K|MFSD7_uc003gbb.1_Missense_Mutation_p.Q272K NM_032219 NP_115595 Q6UXD7 MFSD7_HUMAN major facilitator superfamily domain containing 337 Helical; (Potential). transmembrane transport integral to membrane 0 GTCTGTCCCTGCAGCTGGGAC 0.667 9 19 --- --- --- --- PASS WHSC1 7468 broad.mit.edu 37 4 1936941 1936941 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr4:1936941G>T uc003gdz.3 + 7 1802 c.1626G>T c.(1624-1626)GAG>GAT p.E542D WHSC1_uc003geb.3_Missense_Mutation_p.E542D|WHSC1_uc003gec.3_Missense_Mutation_p.E542D|WHSC1_uc003ged.3_Missense_Mutation_p.E542D|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdy.1_Missense_Mutation_p.E542D|WHSC1_uc010icd.1_Missense_Mutation_p.E542D|WHSC1_uc003gea.1_Missense_Mutation_p.E542D|WHSC1_uc010ice.1_Missense_Mutation_p.E542D|WHSC1_uc003geh.1_Missense_Mutation_p.E542D NM_001042424 NP_001035889 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 protein 542 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) CTGAAGCTGAGGACACACCCA 0.458 T IGH@ MM 6 77 --- --- --- --- PASS ZBTB49 166793 broad.mit.edu 37 4 4322746 4322746 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr4:4322746G>T uc003ghu.2 + 8 2176 c.2001G>T c.(1999-2001)CAG>CAT p.Q667H uc003ghw.2_5'Flank|ZBTB49_uc003ghv.2_Missense_Mutation_p.Q150H|ZBTB49_uc010icy.2_RNA|ZBTB49_uc010icz.2_Missense_Mutation_p.Q245H NM_145291 NP_660334 Q6ZSB9 ZBT49_HUMAN zinc finger protein 509 667 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 TTAGTGACCAGGAGAAGCTGA 0.527 5 46 --- --- --- --- PASS KIAA0232 9778 broad.mit.edu 37 4 6882641 6882641 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr4:6882641G>T uc003gjr.3 + 10 4599 c.4136G>T c.(4135-4137)GGC>GTC p.G1379V KIAA0232_uc003gjq.3_Missense_Mutation_p.G1379V NM_014743 NP_055558 Q92628 K0232_HUMAN hypothetical protein LOC9778 1379 ATP binding ovary(2) 2 GAAGGCGGAGGCGAGTGGGTG 0.488 8 55 --- --- --- --- PASS GRXCR1 389207 broad.mit.edu 37 4 42895358 42895358 + Silent SNP T C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr4:42895358T>C uc003gwt.2 + 1 75 c.75T>C c.(73-75)AGT>AGC p.S25S NM_001080476 NP_001073945 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 25 cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity ovary(1) 1 CCTCTCACAGTGGGCGAGTTC 0.512 33 40 --- --- --- --- PASS SLAIN2 57606 broad.mit.edu 37 4 48422291 48422291 + Missense_Mutation SNP C G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr4:48422291C>G uc003gya.3 + 7 1654 c.1510C>G c.(1510-1512)CCT>GCT p.P504A NM_020846 NP_065897 Q9P270 SLAI2_HUMAN SLAIN motif family, member 2 504 centrosome 0 ACCTGGGCCTCCTATGGTTCA 0.507 29 117 --- --- --- --- PASS LPHN3 23284 broad.mit.edu 37 4 62598664 62598664 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr4:62598664C>A uc010ihh.2 + 5 760 c.587C>A c.(586-588)CCA>CAA p.P196Q LPHN3_uc003hcq.3_Missense_Mutation_p.P196Q|LPHN3_uc010ihg.1_Missense_Mutation_p.P264Q|LPHN3_uc003hcs.1_Missense_Mutation_p.P25Q NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 196 Extracellular (Potential).|Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 GCTGGAAGACCAACTACAACC 0.458 11 22 --- --- --- --- PASS ANKRD17 26057 broad.mit.edu 37 4 74021826 74021826 + Silent SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr4:74021826G>T uc003hgp.2 - 4 879 c.762C>A c.(760-762)CTC>CTA p.L254L ANKRD17_uc003hgo.2_Silent_p.L141L|ANKRD17_uc003hgq.2_Silent_p.L254L|ANKRD17_uc003hgr.2_Silent_p.L254L|ANKRD17_uc011cbd.1_5'Flank NM_032217 NP_115593 O75179 ANR17_HUMAN ankyrin repeat domain protein 17 isoform a 254 ANK 1. interspecies interaction between organisms cytoplasm|nucleus RNA binding ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1) 10 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GCCCTTCAATGAGTAACTTTC 0.418 4 18 --- --- --- --- PASS RASGEF1B 153020 broad.mit.edu 37 4 82363503 82363503 + Missense_Mutation SNP C A A rs151288385 TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr4:82363503C>A uc003hmi.1 - 9 1100 c.956G>T c.(955-957)CGA>CTA p.R319L RASGEF1B_uc003hmj.1_Missense_Mutation_p.R318L|RASGEF1B_uc010ijq.1_Missense_Mutation_p.R277L NM_152545 NP_689758 Q0VAM2 RGF1B_HUMAN RasGEF domain family, member 1B 319 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity 0 TTTTTTTAGTCGAGAGACTGG 0.368 4 30 --- --- --- --- PASS LEF1 51176 broad.mit.edu 37 4 109088716 109088716 + Missense_Mutation SNP G C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr4:109088716G>C uc003hyt.1 - 1 863 c.208C>G c.(208-210)CAC>GAC p.H70D LEF1_uc011cfj.1_5'Flank|LEF1_uc011cfk.1_5'Flank|LEF1_uc003hyu.1_Missense_Mutation_p.H70D|LEF1_uc003hyv.1_Missense_Mutation_p.H70D|LEF1_uc010imb.1_RNA NM_016269 NP_057353 Q9UJU2 LEF1_HUMAN lymphoid enhancer-binding factor 1 isoform 1 70 canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation cytoplasm|protein-DNA complex|transcription factor complex armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding large_intestine(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.000224) CTCACCTCGTGTCCGTTGCTG 0.622 22 21 --- --- --- --- PASS COL25A1 84570 broad.mit.edu 37 4 109765719 109765719 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr4:109765719C>A uc003hze.1 - 29 2116 c.1585G>T c.(1585-1587)GGC>TGC p.G529C COL25A1_uc003hzg.2_Missense_Mutation_p.G529C|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_Missense_Mutation_p.G287C NM_198721 NP_942014 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 isoform 1 529 Extracellular (Potential). collagen|extracellular space beta-amyloid binding|heparin binding ovary(2) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) cctggtgggcctATGATCTGT 0.279 23 21 --- --- --- --- PASS KIAA1109 84162 broad.mit.edu 37 4 123161457 123161457 + Silent SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr4:123161457C>A uc003ieh.2 + 27 4665 c.4620C>A c.(4618-4620)ACC>ACA p.T1540T KIAA1109_uc003iei.1_Silent_p.T1293T|KIAA1109_uc010ins.1_Silent_p.T883T|KIAA1109_uc003iek.2_Silent_p.T159T NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 1540 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 ATACACCAACCAGTGAAGAAA 0.363 5 66 --- --- --- --- PASS SLC25A31 83447 broad.mit.edu 37 4 128688282 128688282 + Missense_Mutation SNP T A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr4:128688282T>A uc003ifl.2 + 4 686 c.540T>A c.(538-540)GAT>GAA p.D180E NM_031291 NP_112581 Q9H0C2 ADT4_HUMAN solute carrier family 25 (mitochondrial carrier; 180 Helical; Name=4; (Potential).|Solcar 2. transmembrane transport cilium|flagellum|integral to membrane|mitochondrial inner membrane binding|transporter activity 0 CAAAATCAGATGGAATTGCTG 0.368 20 44 --- --- --- --- PASS DCHS2 54798 broad.mit.edu 37 4 155156162 155156162 + Silent SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr4:155156162C>T uc003inw.2 - 25 8277 c.8277G>A c.(8275-8277)AGG>AGA p.R2759R NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 2759 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) GAGCTGCACACCTTACTTCCT 0.438 19 30 --- --- --- --- PASS DCHS2 54798 broad.mit.edu 37 4 155241661 155241661 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr4:155241661C>A uc003inw.2 - 14 3525 c.3525G>T c.(3523-3525)GAG>GAT p.E1175D NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 1175 Cadherin 10. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CTGTGACATCCTCTTTGACAT 0.458 5 52 --- --- --- --- PASS FGA 2243 broad.mit.edu 37 4 155510624 155510624 + Missense_Mutation SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr4:155510624C>T uc003iod.1 - 2 203 c.145G>A c.(145-147)GAT>AAT p.D49N FGA_uc003ioe.1_Missense_Mutation_p.D49N|FGA_uc003iof.1_Missense_Mutation_p.D49N NM_000508 NP_000499 P02671 FIBA_HUMAN fibrinogen, alpha polypeptide isoform alpha-E 49 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|breast(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) CAGTCTGAATCTTTGCAGGCA 0.527 35 41 --- --- --- --- PASS ETFDH 2110 broad.mit.edu 37 4 159627943 159627943 + Missense_Mutation SNP T C C rs140184655 TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr4:159627943T>C uc003iqb.2 + 12 1963 c.1631T>C c.(1630-1632)ATA>ACA p.I544T ETFDH_uc011cjg.1_Missense_Mutation_p.I497T|ETFDH_uc010iqr.2_Missense_Mutation_p.I141T|ETFDH_uc011cjh.1_Missense_Mutation_p.I483T|ETFDH_uc010iqs.2_Missense_Mutation_p.I466T NM_004453 NP_004444 Q16134 ETFD_HUMAN electron-transferring-flavoprotein dehydrogenase 544 fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport integral to mitochondrial inner membrane|mitochondrial matrix 4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding large_intestine(2)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0172) GATGACAGTATACCTGTAAAT 0.413 32 51 --- --- --- --- PASS GALNTL6 442117 broad.mit.edu 37 4 173232904 173232904 + Splice_Site SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr4:173232904G>A uc003isv.2 + 4 1122 c.386_splice c.e4+1 p.N129_splice NM_001034845 NP_001030017 Q49A17 GLTL6_HUMAN N-acetylgalactosaminyltransferase-like 6 Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|ovary(1)|skin(1) 4 GTCATGCTAAGTGAGTATCAG 0.363 15 56 --- --- --- --- PASS SORBS2 8470 broad.mit.edu 37 4 186578704 186578704 + Silent SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr4:186578704G>T uc003iyl.2 - 6 999 c.141C>A c.(139-141)ACC>ACA p.T47T SORBS2_uc003iyh.2_Silent_p.T226T|SORBS2_uc011ckw.1_Silent_p.T116T|SORBS2_uc003iyi.2_Silent_p.T133T|SORBS2_uc011ckx.1_Silent_p.T93T|SORBS2_uc003iyk.2_Silent_p.T133T|SORBS2_uc003iym.2_Silent_p.T147T|SORBS2_uc003iyn.1_Silent_p.T93T|SORBS2_uc011cky.1_Silent_p.T110T|SORBS2_uc003iyp.2_Silent_p.T147T|SORBS2_uc011cku.1_5'Flank|SORBS2_uc011ckv.1_5'Flank|SORBS2_uc003iyd.2_Silent_p.T226T|SORBS2_uc003iye.2_Silent_p.T47T|SORBS2_uc003iya.2_Silent_p.T47T|SORBS2_uc003iyb.2_Silent_p.T47T|SORBS2_uc003iyc.2_Silent_p.T47T|SORBS2_uc003iyg.2_Silent_p.T133T|SORBS2_uc003iyf.2_Silent_p.T110T|SORBS2_uc003iyo.1_5'Flank NM_021069 NP_066547 O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 isoform 2 47 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(1) 1 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) AGCTGCTGGTGGTGCCATCCA 0.512 5 37 --- --- --- --- PASS FAM105B 90268 broad.mit.edu 37 5 14690237 14690237 + Silent SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr5:14690237C>T uc003jfk.2 + 6 836 c.684C>T c.(682-684)CTC>CTT p.L228L NM_138348 NP_612357 Q96BN8 F105B_HUMAN hypothetical protein LOC90268 228 ovary(2) 2 Lung NSC(4;0.00696) AATATAGCCTCTATGAAGCTG 0.383 8 69 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24492992 24492992 + Missense_Mutation SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr5:24492992C>T uc003jgr.1 - 10 1890 c.1558G>A c.(1558-1560)GGT>AGT p.G520S CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 520 Cadherin 5.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) TTCTGTCCACCTAAAGGGTCA 0.328 HNSCC(23;0.051) 19 88 --- --- --- --- PASS RNASEN 29102 broad.mit.edu 37 5 31526339 31526339 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr5:31526339C>A uc003jhg.2 - 4 1060 c.701G>T c.(700-702)CGA>CTA p.R234L RNASEN_uc003jhh.2_Missense_Mutation_p.R234L|RNASEN_uc003jhi.2_Missense_Mutation_p.R234L|RNASEN_uc010iui.1_Missense_Mutation_p.R225L NM_013235 NP_037367 Q9NRR4 RNC_HUMAN ribonuclease III, nuclear isoform 1 234 Arg-rich. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity 0 ACTGTGATCTCGGTGCCTGTG 0.577 4 68 --- --- --- --- PASS UGT3A2 167127 broad.mit.edu 37 5 36035916 36035916 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr5:36035916G>T uc003jjz.1 - 7 1549 c.1456C>A c.(1456-1458)CTC>ATC p.L486I UGT3A2_uc011cos.1_Missense_Mutation_p.L452I|UGT3A2_uc011cot.1_Missense_Mutation_p.L184I NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 486 Helical; (Potential). L -> F (in Ref. 1; AAQ88782). integral to membrane glucuronosyltransferase activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1) 6 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AAAACGTCGAGCAGGTACTGC 0.607 8 47 --- --- --- --- PASS FYB 2533 broad.mit.edu 37 5 39202153 39202153 + Missense_Mutation SNP A T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr5:39202153A>T uc003jls.2 - 1 977 c.910T>A c.(910-912)TTG>ATG p.L304M FYB_uc003jlt.2_Missense_Mutation_p.L304M|FYB_uc003jlu.2_Missense_Mutation_p.L304M|FYB_uc011cpl.1_Missense_Mutation_p.L314M NM_199335 NP_955367 O15117 FYB_HUMAN FYN binding protein (FYB-120/130) isoform 2 304 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding ovary(2) 2 all_lung(31;0.000343) Epithelial(62;0.235) CCTGAGGCCAACTCTTCCTGA 0.507 10 69 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45262236 45262236 + Silent SNP C G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr5:45262236C>G uc003jok.2 - 8 2485 c.2460G>C c.(2458-2460)ACG>ACC p.T820T NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 820 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 CGGGGACCGCCGTCACGGGTT 0.682 9 17 --- --- --- --- PASS PARP8 79668 broad.mit.edu 37 5 50090868 50090868 + Missense_Mutation SNP A T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr5:50090868A>T uc003jon.3 + 13 1227 c.1045A>T c.(1045-1047)AGG>TGG p.R349W PARP8_uc011cpz.1_Missense_Mutation_p.R241W|PARP8_uc003joo.2_Missense_Mutation_p.R349W|PARP8_uc003jop.2_Missense_Mutation_p.R349W NM_024615 NP_078891 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 349 intracellular NAD+ ADP-ribosyltransferase activity lung(3)|large_intestine(1)|ovary(1) 5 Lung NSC(810;0.0305)|Breast(144;0.222) CAGCGATCCCAGGGCGGAGCA 0.512 25 57 --- --- --- --- PASS ITGA1 3672 broad.mit.edu 37 5 52223413 52223413 + Splice_Site SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr5:52223413G>A uc003jou.2 + 20 2666 c.2614_splice c.e20-1 p.A872_splice ITGA1_uc003jov.2_Splice_Site|ITGA1_uc003jow.2_Splice_Site_p.A403_splice NM_181501 NP_852478 P56199 ITA1_HUMAN integrin, alpha 1 precursor axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity ovary(2)|lung(1) 3 Lung NSC(810;5.05e-05)|Breast(144;0.0851) TCTCTTCCTAGGCTATCCAAA 0.398 7 41 --- --- --- --- PASS GZMA 3001 broad.mit.edu 37 5 54404139 54404139 + Nonsense_Mutation SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr5:54404139C>T uc003jpm.2 + 4 581 c.544C>T c.(544-546)CGA>TGA p.R182* NM_006144 NP_006135 P12544 GRAA_HUMAN granzyme A precursor 182 Peptidase S1. cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis extracellular region|immunological synapse|nucleus protein homodimerization activity|serine-type endopeptidase activity ovary(2)|pancreas(1)|skin(1) 4 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) CTGCAATGATCGAAATCACTA 0.428 5 41 --- --- --- --- PASS ANKRD55 79722 broad.mit.edu 37 5 55422770 55422770 + Missense_Mutation SNP T C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr5:55422770T>C uc003jqu.2 - 8 928 c.776A>G c.(775-777)CAG>CGG p.Q259R NM_024669 NP_078945 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 isoform 1 258 ANK 7. skin(1) 1 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) ATCCAGAGCCTGCAGGTTACA 0.458 15 124 --- --- --- --- PASS TMEM174 134288 broad.mit.edu 37 5 72469360 72469360 + Missense_Mutation SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr5:72469360C>T uc010izc.2 + 1 338 c.290C>T c.(289-291)TCC>TTC p.S97F NM_153217 NP_694949 Q8WUU8 TM174_HUMAN transmembrane protein 174 97 integral to membrane ovary(1) 1 Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;1.46e-54) AAAATGCTCTCCTGCCAGTTG 0.527 22 34 --- --- --- --- PASS SV2C 22987 broad.mit.edu 37 5 75594662 75594662 + Missense_Mutation SNP G C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr5:75594662G>C uc003kei.1 + 10 1680 c.1546G>C c.(1546-1548)GTT>CTT p.V516L NM_014979 NP_055794 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 516 Extracellular (Potential). neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity skin(1) 1 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) CAAAGACTCTGTTTTTAAGTC 0.383 11 23 --- --- --- --- PASS FAM170A 340069 broad.mit.edu 37 5 118970254 118970254 + Missense_Mutation SNP A G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr5:118970254A>G uc003ksm.2 + 3 1021 c.811A>G c.(811-813)ATG>GTG p.M271V FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.2_Missense_Mutation_p.M271V|FAM170A_uc003kso.2_Missense_Mutation_p.M224V NM_182761 NP_877438 A1A519 F170A_HUMAN family with sequence similarity 170, member A 271 intracellular zinc ion binding skin(1) 1 GACAGGCAACATGGAATCAGA 0.353 87 67 --- --- --- --- PASS SNCAIP 9627 broad.mit.edu 37 5 121761083 121761083 + Missense_Mutation SNP G C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr5:121761083G>C uc003ksw.1 + 5 1245 c.1039G>C c.(1039-1041)GAC>CAC p.D347H SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.2_Missense_Mutation_p.D347H|SNCAIP_uc003ksx.1_Missense_Mutation_p.D394H|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Missense_Mutation_p.D41H|SNCAIP_uc010jcx.1_Intron NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN synuclein alpha interacting protein 347 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding ovary(1)|pancreas(1) 2 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) CAAAATTCACGACGAAAATGG 0.423 4 107 --- --- --- --- PASS WNT8A 7478 broad.mit.edu 37 5 137424656 137424656 + Silent SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr5:137424656G>T uc003lcd.1 + 5 413 c.408G>T c.(406-408)GTG>GTT p.V136V BRD8_uc003lcc.1_Intron|WNT8A_uc011cyj.1_Silent_p.V154V|WNT8A_uc011cyk.1_Silent_p.V154V NM_058244 NP_490645 Q9H1J5 WNT8A_HUMAN wingless-type MMTV integration site family, 136 brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity ovary(1)|lung(1)|breast(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GCGACAATGTGGAATTTGGGG 0.532 6 95 --- --- --- --- PASS REEP2 51308 broad.mit.edu 37 5 137781195 137781195 + Missense_Mutation SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr5:137781195C>T uc003lcz.2 + 7 720 c.598C>T c.(598-600)CCG>TCG p.P200S REEP2_uc003lda.2_Missense_Mutation_p.P202S|REEP2_uc011cyt.1_Missense_Mutation_p.P161S NM_016606 NP_057690 Q9BRK0 REEP2_HUMAN receptor accessory protein 2 200 integral to membrane 0 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CAGCACAAACCCGGCAGATTC 0.577 25 29 --- --- --- --- PASS ZMAT2 153527 broad.mit.edu 37 5 140083567 140083567 + Missense_Mutation SNP G C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr5:140083567G>C uc003lgy.1 + 4 315 c.301G>C c.(301-303)GGA>CGA p.G101R NM_144723 NP_653324 Q96NC0 ZMAT2_HUMAN zinc finger, matrin type 2 101 Matrin-type. nucleus DNA binding|zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCACATTAATGGAAAGAAACG 0.423 17 80 --- --- --- --- PASS PCDHA10 56139 broad.mit.edu 37 5 140236732 140236732 + Missense_Mutation SNP G A A rs145115378 byFrequency TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr5:140236732G>A uc003lhx.2 + 1 1099 c.1099G>A c.(1099-1101)GTC>ATC p.V367I PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.V367I|PCDHA10_uc011dad.1_Missense_Mutation_p.V367I NM_018901 NP_061724 Q9Y5I2 PCDAA_HUMAN protocadherin alpha 10 isoform 1 precursor 367 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2)|breast(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGTGGGCACCGTCATTGCCCT 0.507 27 83 --- --- --- --- PASS PCDHA13 56136 broad.mit.edu 37 5 140263468 140263468 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr5:140263468G>T uc003lif.2 + 1 1615 c.1615G>T c.(1615-1617)GAC>TAC p.D539Y PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.D539Y|PCDHA13_uc003lid.2_Missense_Mutation_p.D539Y NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 539 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGCGCGCGCGACTCTGGCGT 0.682 5 96 --- --- --- --- PASS PCDHB7 56129 broad.mit.edu 37 5 140554148 140554148 + Silent SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr5:140554148C>A uc003lit.2 + 1 1906 c.1732C>A c.(1732-1734)CGG>AGG p.R578R NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 578 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCGTTGCCCCGGGCGGCCGA 0.706 25 14 --- --- --- --- PASS PCDHGA7 56108 broad.mit.edu 37 5 140762746 140762746 + Missense_Mutation SNP G C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr5:140762746G>C uc003lka.1 + 1 280 c.280G>C c.(280-282)GAG>CAG p.E94Q PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.E94Q NM_018920 NP_061743 Q9Y5G6 PCDG7_HUMAN protocadherin gamma subfamily A, 7 isoform 1 94 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGACCGGGAAGAGATCTGCGC 0.512 54 37 --- --- --- --- PASS PCDHGB5 56101 broad.mit.edu 37 5 140779539 140779539 + Silent SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr5:140779539G>T uc003lkf.1 + 1 1845 c.1845G>T c.(1843-1845)CTG>CTT p.L615L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Silent_p.L615L|PCDHGA9_uc011dax.1_5'Flank|PCDHGA9_uc003lkh.1_5'Flank NM_018925 NP_061748 Q9Y5G0 PCDGH_HUMAN protocadherin gamma subfamily B, 5 isoform 1 615 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTTCAGCCTGGGGCTGCGCA 0.687 26 13 --- --- --- --- PASS PCDH1 5097 broad.mit.edu 37 5 141243098 141243098 + Missense_Mutation SNP A T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr5:141243098A>T uc003llq.2 - 3 2915 c.2798T>A c.(2797-2799)CTG>CAG p.L933Q PCDH1_uc003llp.2_Missense_Mutation_p.L933Q|PCDH1_uc011dbf.1_Missense_Mutation_p.L911Q NM_002587 NP_002578 Q08174 PCDH1_HUMAN protocadherin 1 isoform 1 precursor 933 Cytoplasmic (Potential). cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding ovary(5) 5 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) GGACTTCTGCAGCCCGGCCTC 0.612 12 11 --- --- --- --- PASS SLC6A7 6534 broad.mit.edu 37 5 149583559 149583559 + Missense_Mutation SNP C G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr5:149583559C>G uc003lrr.2 + 10 1661 c.1290C>G c.(1288-1290)ATC>ATG p.I430M NM_014228 NP_055043 Q99884 SC6A7_HUMAN solute carrier family 6, member 7 430 Helical; Name=9; (Potential). integral to plasma membrane|membrane fraction neurotransmitter:sodium symporter activity|proline:sodium symporter activity 0 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Proline(DB00172) CAGGGCTCATCTGCGTGGCCA 0.577 6 11 --- --- --- --- PASS KIF4B 285643 broad.mit.edu 37 5 154396080 154396080 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr5:154396080C>A uc010jih.1 + 1 2821 c.2661C>A c.(2659-2661)AGC>AGA p.S887R NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 887 Interaction with PRC1 (By similarity).|Potential. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity ovary(1) 1 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TTGAAAACAGCCTGAGACAGA 0.448 55 37 --- --- --- --- PASS ATP10B 23120 broad.mit.edu 37 5 160097524 160097524 + Missense_Mutation SNP C G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr5:160097524C>G uc003lym.1 - 7 1468 c.621G>C c.(619-621)TTG>TTC p.L207F ATP10B_uc003lyp.2_Missense_Mutation_p.L207F|ATP10B_uc011deg.1_Missense_Mutation_p.L251F|ATP10B_uc003lyo.2_Missense_Mutation_p.L179F NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 207 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCTCTCCATCCAAGCTGGCAG 0.443 45 59 --- --- --- --- PASS MAPK9 5601 broad.mit.edu 37 5 179668078 179668078 + Missense_Mutation SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr5:179668078G>A uc003mls.3 - 9 1220 c.949C>T c.(949-951)CGT>TGT p.R317C MAPK9_uc003mlt.3_Missense_Mutation_p.R317C|MAPK9_uc010jlc.2_Missense_Mutation_p.R317C|MAPK9_uc003mlv.3_Missense_Mutation_p.R317C NM_002752 NP_002743 P45984 MK09_HUMAN mitogen-activated protein kinase 9 isoform JNK2 317 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|protein binding|protein binding central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1) 4 all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TATGGGTGACGCAGAGCTTCG 0.423 82 89 --- --- --- --- PASS GFPT2 9945 broad.mit.edu 37 5 179745898 179745898 + Missense_Mutation SNP C G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr5:179745898C>G uc003mlw.1 - 10 951 c.853G>C c.(853-855)GTG>CTG p.V285L NM_005110 NP_005101 O94808 GFPT2_HUMAN glutamine-fructose-6-phosphate transaminase 2 285 Glutamine amidotransferase type-2. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding ovary(1)|skin(1) 2 all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) Medulloblastoma(196;0.0392)|all_neural(177;0.0529) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) L-Glutamine(DB00130) CCATCAGCCACTGCGGCGATG 0.572 3 22 --- --- --- --- PASS EXOC2 55770 broad.mit.edu 37 6 486758 486758 + Silent SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr6:486758C>A uc003mtd.2 - 28 2822 c.2688G>T c.(2686-2688)CTG>CTT p.L896L EXOC2_uc003mte.2_Silent_p.L896L|EXOC2_uc011dho.1_Silent_p.L491L NM_018303 NP_060773 Q96KP1 EXOC2_HUMAN Sec5 protein 896 exocytosis|protein transport breast(4)|ovary(2)|pancreas(1) 7 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) GGAGCTCTTCCAGTAACCTGC 0.517 5 59 --- --- --- --- PASS HIST1H4E 8367 broad.mit.edu 37 6 26205085 26205085 + Silent SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr6:26205085G>A uc003ngy.2 + 1 213 c.213G>A c.(211-213)GTG>GTA p.V71V NM_003545 NP_003536 P62805 H4_HUMAN histone cluster 1, H4e 71 V -> A (in Ref. 14; AAH67496). CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding ovary(1) 1 all_hematologic(11;0.196) GTGATGCTGTGACTTACACGG 0.552 12 59 --- --- --- --- PASS C6orf15 29113 broad.mit.edu 37 6 31079766 31079766 + Nonsense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr6:31079766C>A uc003nsk.1 - 2 370 c.370G>T c.(370-372)GAG>TAG p.E124* PSORS1C1_uc003nsl.1_5'Flank|PSORS1C1_uc010jsj.1_5'Flank NM_014070 NP_054789 Q6UXA7 CF015_HUMAN STG protein precursor 124 0 AGGCGGTCCTCAGCCGCAGCA 0.652 6 23 --- --- --- --- PASS BAT2 7916 broad.mit.edu 37 6 31599382 31599382 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr6:31599382C>A uc003nvb.3 + 16 3181 c.2932C>A c.(2932-2934)CCC>ACC p.P978T BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.P978T NM_080686 NP_542417 P48634 PRC2A_HUMAN HLA-B associated transcript-2 978 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding 0 AACCCCCAAACCCCCAAAGCC 0.597 3 18 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38854588 38854588 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr6:38854588C>A uc003ooe.1 + 55 8230 c.7630C>A c.(7630-7632)CAG>AAG p.Q2544K NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 GATTGTGCGACAGATGATGGA 0.378 11 57 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38854589 38854589 + Missense_Mutation SNP A G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr6:38854589A>G uc003ooe.1 + 55 8231 c.7631A>G c.(7630-7632)CAG>CGG p.Q2544R NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 ATTGTGCGACAGATGATGGAA 0.378 11 57 --- --- --- --- PASS GPR111 222611 broad.mit.edu 37 6 47649184 47649184 + Missense_Mutation SNP A G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr6:47649184A>G uc010jzj.1 + 6 890 c.889A>G c.(889-891)ATA>GTA p.I297V GPR111_uc010jzk.1_Missense_Mutation_p.I229V|GPR111_uc003oyy.2_RNA NM_153839 NP_722581 Q8IZF7 GP111_HUMAN G-protein coupled receptor 111 297 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 GGGCACCACCATATCTGGAGA 0.373 29 65 --- --- --- --- PASS C6orf138 442213 broad.mit.edu 37 6 47847514 47847514 + Missense_Mutation SNP T A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr6:47847514T>A uc011dwm.1 - 3 1100 c.1015A>T c.(1015-1017)AGC>TGC p.S339C C6orf138_uc011dwn.1_Missense_Mutation_p.S103C NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN hypothetical protein LOC442213 356 Helical; (Potential).|SSD. integral to membrane hedgehog receptor activity central_nervous_system(1) 1 GTGAATGGGCTGGCACCCATG 0.453 12 32 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51612743 51612743 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr6:51612743G>T uc003pah.1 - 58 9947 c.9671C>A c.(9670-9672)GCC>GAC p.A3224D PKHD1_uc010jzn.1_Missense_Mutation_p.A1207D|PKHD1_uc003pai.2_Missense_Mutation_p.A3224D NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 3224 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) TGTCAAGTTGGCTGAGTGCGG 0.468 27 67 --- --- --- --- PASS BAI3 577 broad.mit.edu 37 6 70065752 70065752 + Missense_Mutation SNP G C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr6:70065752G>C uc003pev.3 + 28 4043 c.3595G>C c.(3595-3597)GTT>CTT p.V1199L BAI3_uc010kak.2_Missense_Mutation_p.V1199L|BAI3_uc011dxx.1_Missense_Mutation_p.V405L NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1199 Cytoplasmic (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) CTGTCGATCAGGTAAGAATAT 0.289 11 32 --- --- --- --- PASS TBX18 9096 broad.mit.edu 37 6 85446511 85446511 + Silent SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr6:85446511C>A uc003pkl.1 - 8 1716 c.1716G>T c.(1714-1716)GTG>GTT p.V572V TBX18_uc010kbq.1_Intron NM_001080508 NP_001073977 O95935 TBX18_HUMAN T-box 18 572 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|pancreas(2)|lung(1) 5 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) GCACTCCTTCCACAGGGGGCA 0.512 4 25 --- --- --- --- PASS SYNCRIP 10492 broad.mit.edu 37 6 86324913 86324913 + Missense_Mutation SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr6:86324913C>T uc003pla.2 - 11 1974 c.1433G>A c.(1432-1434)CGT>CAT p.R478H SYNCRIP_uc003pku.2_Missense_Mutation_p.R478H|SYNCRIP_uc003pkw.2_Missense_Mutation_p.R443H|SYNCRIP_uc003pky.2_Missense_Mutation_p.R380H|SYNCRIP_uc003pkv.2_Missense_Mutation_p.R478H|SYNCRIP_uc003pkx.2_Missense_Mutation_p.R326H|SYNCRIP_uc003pkz.2_Missense_Mutation_p.R443H NM_006372 NP_006363 O60506 HNRPQ_HUMAN synaptotagmin binding, cytoplasmic RNA 478 Interaction with APOBEC1.|3 X 4 AA repeats of Y-Y-G-Y.|8 X 3 AA repeats of R-G-G.|1-3. CRD-mediated mRNA stabilization|interspecies interaction between organisms catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm nucleotide binding|protein binding ovary(2) 2 all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297) BRCA - Breast invasive adenocarcinoma(108;0.0389) ATATCCACCACGATAGTTATG 0.428 8 17 --- --- --- --- PASS KLHL32 114792 broad.mit.edu 37 6 97533046 97533046 + Silent SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr6:97533046C>T uc010kcm.1 + 6 928 c.456C>T c.(454-456)GAC>GAT p.D152D KLHL32_uc003poy.2_Silent_p.D152D|KLHL32_uc011ead.1_Silent_p.D116D|KLHL32_uc003poz.2_Intron|KLHL32_uc011eae.1_Silent_p.D83D|KLHL32_uc003ppa.2_RNA NM_052904 NP_443136 Q96NJ5 KLH32_HUMAN kelch-like 32 152 p.D152D(1) ovary(3)|skin(1) 4 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) BRCA - Breast invasive adenocarcinoma(108;0.0558) GACTTGCTGACCTCTTTAACC 0.383 13 22 --- --- --- --- PASS USP45 85015 broad.mit.edu 37 6 99951668 99951668 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr6:99951668G>T uc003ppx.2 - 5 984 c.451C>A c.(451-453)CAG>AAG p.Q151K USP45_uc003ppw.2_5'UTR|USP45_uc003ppy.2_RNA|USP45_uc010kcq.1_Missense_Mutation_p.Q151K|USP45_uc003ppz.2_Missense_Mutation_p.Q151K|USP45_uc003pqa.2_Missense_Mutation_p.Q151K NM_001080481 NP_001073950 Q70EL2 UBP45_HUMAN ubiquitin specific peptidase 45 151 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|breast(1) 2 all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133) BRCA - Breast invasive adenocarcinoma(108;0.0718) GCATGTTTCTGGAGAAAATCA 0.279 5 51 --- --- --- --- PASS SIM1 6492 broad.mit.edu 37 6 100895257 100895257 + Nonsense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr6:100895257G>T uc003pqj.3 - 8 1092 c.885C>A c.(883-885)TAC>TAA p.Y295* SIM1_uc010kcu.2_Nonsense_Mutation_p.Y295* NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 295 PAC. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) CCAGGAACCTGTAGTACTTGG 0.597 14 19 --- --- --- --- PASS L3MBTL3 84456 broad.mit.edu 37 6 130454629 130454629 + Nonsense_Mutation SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr6:130454629C>T uc003qbt.2 + 21 2169 c.1999C>T c.(1999-2001)CAG>TAG p.Q667* L3MBTL3_uc003qbu.2_Nonsense_Mutation_p.Q642* NM_032438 NP_115814 Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 isoform a 667 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) CCAGCAGGCACAGCGTCGGTC 0.527 11 20 --- --- --- --- PASS L3MBTL3 84456 broad.mit.edu 37 6 130454633 130454633 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr6:130454633G>T uc003qbt.2 + 21 2173 c.2003G>T c.(2002-2004)CGT>CTT p.R668L L3MBTL3_uc003qbu.2_Missense_Mutation_p.R643L NM_032438 NP_115814 Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 isoform a 668 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) CAGGCACAGCGTCGGTCAGCT 0.532 12 19 --- --- --- --- PASS SAMD3 154075 broad.mit.edu 37 6 130505658 130505658 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr6:130505658C>A uc003qbv.2 - 7 820 c.494G>T c.(493-495)TGC>TTC p.C165F SAMD3_uc003qbx.2_Missense_Mutation_p.C165F|SAMD3_uc003qbw.2_Missense_Mutation_p.C165F|SAMD3_uc010kfg.1_Missense_Mutation_p.C165F|SAMD3_uc003qby.2_Missense_Mutation_p.C165F|SAMD3_uc003qbz.1_Missense_Mutation_p.C124F NM_001017373 NP_001017373 Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 isoform 165 ovary(1) 1 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) GTGATCCGGGCACTTCTGCTC 0.448 11 17 --- --- --- --- PASS ZBTB2 57621 broad.mit.edu 37 6 151687860 151687860 + Missense_Mutation SNP G C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr6:151687860G>C uc003qoh.2 - 3 476 c.341C>G c.(340-342)GCC>GGC p.A114G NM_020861 NP_065912 Q8N680 ZBTB2_HUMAN zinc finger and BTB domain containing 2 114 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.63e-11) TCCCTGGCTGGCGAGGCTGGC 0.532 13 39 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152804220 152804220 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr6:152804220C>A uc010kiw.2 - 14 1952 c.1350G>T c.(1348-1350)AAG>AAT p.K450N SYNE1_uc003qot.3_Missense_Mutation_p.K457N|SYNE1_uc003qou.3_Missense_Mutation_p.K450N|SYNE1_uc010kjb.1_Missense_Mutation_p.K433N|SYNE1_uc003qpa.1_Missense_Mutation_p.K450N|SYNE1_uc003qox.1_Translation_Start_Site NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 450 Potential.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GAATTTTTACCTTATGTTGCT 0.502 HNSCC(10;0.0054) 7 187 --- --- --- --- PASS NOX3 50508 broad.mit.edu 37 6 155761124 155761124 + Missense_Mutation SNP C G G rs143056669 byFrequency TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr6:155761124C>G uc003qqm.2 - 6 737 c.634G>C c.(634-636)GTC>CTC p.V212L NM_015718 NP_056533 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 212 Ferric oxidoreductase.|Helical; (Potential). electron carrier activity|flavin adenine dinucleotide binding|iron ion binding ovary(1) 1 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) AGAAAGAAGACGATGAAAACA 0.468 19 24 --- --- --- --- PASS SLC22A2 6582 broad.mit.edu 37 6 160670411 160670411 + Missense_Mutation SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr6:160670411C>T uc003qtf.2 - 4 849 c.679G>A c.(679-681)GAA>AAA p.E227K SLC22A2_uc003qte.1_Missense_Mutation_p.E227K|SLC22A2_uc003qth.1_3'UTR NM_003058 NP_003049 O15244 S22A2_HUMAN solute carrier family 22 member 2 227 Helical; (Potential). body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(1)|skin(1) 2 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) CCAACAAATTCTGTAACTGCA 0.433 14 64 --- --- --- --- PASS CCR6 1235 broad.mit.edu 37 6 167550498 167550498 + Silent SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr6:167550498G>T uc003qvl.2 + 13 3256 c.780G>T c.(778-780)GTG>GTT p.V260V CCR6_uc010kkm.2_Silent_p.V260V|CCR6_uc003qvn.3_Silent_p.V260V|CCR6_uc003qvm.3_Silent_p.V260V NM_031409 NP_113597 P51684 CCR6_HUMAN chemokine (C-C motif) receptor 6 260 Helical; Name=6; (Potential). cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response integral to plasma membrane C-C chemokine receptor activity ovary(1) 1 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507) TAGCTGTGGTGCTTGTGTTTC 0.428 34 20 --- --- --- --- PASS CARD11 84433 broad.mit.edu 37 7 2968256 2968256 + Missense_Mutation SNP T A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr7:2968256T>A uc003smv.2 - 13 2134 c.1730A>T c.(1729-1731)TAC>TTC p.Y577F NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 577 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1) 50 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) GTCCTCCTTGTAGCGTCTGAC 0.652 Mis DLBCL 7 58 --- --- --- --- PASS COL28A1 340267 broad.mit.edu 37 7 7398270 7398270 + Missense_Mutation SNP T A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr7:7398270T>A uc003src.1 - 35 3489 c.3372A>T c.(3370-3372)CAA>CAT p.Q1124H COL28A1_uc011jxe.1_Missense_Mutation_p.Q807H NM_001037763 NP_001032852 Q2UY09 COSA1_HUMAN collagen, type XXVIII precursor 1124 cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity skin(3) 3 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) TTGCTCATCCTTGAATGCAGG 0.353 30 58 --- --- --- --- PASS TMEM195 392636 broad.mit.edu 37 7 15584478 15584478 + Missense_Mutation SNP G C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr7:15584478G>C uc003stb.1 - 3 498 c.328C>G c.(328-330)CCT>GCT p.P110A NM_001004320 NP_001004320 Q6ZNB7 ALKMO_HUMAN transmembrane protein 195 110 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding 0 GAATCCCAAGGCAAATTGAAC 0.408 34 75 --- --- --- --- PASS MACC1 346389 broad.mit.edu 37 7 20198760 20198760 + Silent SNP A G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr7:20198760A>G uc003sus.3 - 5 1533 c.1224T>C c.(1222-1224)GGT>GGC p.G408G MACC1_uc010kug.2_Silent_p.G408G NM_182762 NP_877439 Q6ZN28 MACC1_HUMAN putative binding protein 7a5 408 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity ovary(2)|skin(1) 3 TGTTTTTTCCACCCTTCTTAA 0.363 6 22 --- --- --- --- PASS MACC1 346389 broad.mit.edu 37 7 20199112 20199112 + Missense_Mutation SNP T C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr7:20199112T>C uc003sus.3 - 5 1181 c.872A>G c.(871-873)AAA>AGA p.K291R MACC1_uc010kug.2_Missense_Mutation_p.K291R NM_182762 NP_877439 Q6ZN28 MACC1_HUMAN putative binding protein 7a5 291 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity ovary(2)|skin(1) 3 AGCCCCAATTTTCATCTCCAG 0.433 8 27 --- --- --- --- PASS NPVF 64111 broad.mit.edu 37 7 25266476 25266476 + Missense_Mutation SNP C G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr7:25266476C>G uc003sxo.2 - 2 355 c.308G>C c.(307-309)GGA>GCA p.G103A NM_022150 NP_071433 Q9HCQ7 RFRP_HUMAN neuropeptide VF precursor 103 neuropeptide signaling pathway extracellular region|membrane G-protein coupled receptor activity ovary(1) 1 GGCTGTTGCTCCAGCACTTCT 0.473 24 43 --- --- --- --- PASS AMPH 273 broad.mit.edu 37 7 38431391 38431391 + Silent SNP T A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr7:38431391T>A uc003tgu.2 - 19 1905 c.1836A>T c.(1834-1836)GCA>GCT p.A612A AMPH_uc003tgv.2_Silent_p.A570A|AMPH_uc003tgt.2_Silent_p.A497A|AMPH_uc003tgw.1_Silent_p.A635A|AMPH_uc010kxl.1_RNA NM_001635 NP_001626 P49418 AMPH_HUMAN amphiphysin isoform 1 612 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane ovary(3)|liver(1)|skin(1) 5 AGGCCTCCCTTGCAGATGCTA 0.522 19 47 --- --- --- --- PASS GCK 2645 broad.mit.edu 37 7 44193036 44193036 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr7:44193036C>A uc003tkl.2 - 2 542 c.72G>T c.(70-72)CAG>CAT p.Q24H GCK_uc003tkj.1_Missense_Mutation_p.Q23H|GCK_uc003tkk.1_Missense_Mutation_p.Q25H NM_000162 NP_000153 P35557 HXK4_HUMAN glucokinase isoform 1 24 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding skin(3)|lung(1) 4 CCTCCTGCAGCTGGAACTCTG 0.632 90 150 --- --- --- --- PASS PKD1L1 168507 broad.mit.edu 37 7 47947844 47947844 + Missense_Mutation SNP C G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr7:47947844C>G uc003tny.1 - 9 1232 c.1232G>C c.(1231-1233)GGA>GCA p.G411A NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 411 Extracellular (Potential). cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 CATATAGACTCCTTCTGGAAA 0.393 8 44 --- --- --- --- PASS FZD9 8326 broad.mit.edu 37 7 72849712 72849712 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr7:72849712G>T uc003tyb.2 + 1 1604 c.1375G>T c.(1375-1377)GCC>TCC p.A459S NM_003508 NP_003499 O00144 FZD9_HUMAN frizzled 9 precursor 459 Helical; Name=6; (Potential). B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding central_nervous_system(1) 1 Lung NSC(55;0.0659)|all_lung(88;0.152) CACGGTGCCCGCCACCTGCGT 0.617 3 9 --- --- --- --- PASS AKAP9 10142 broad.mit.edu 37 7 91660895 91660895 + Missense_Mutation SNP C G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr7:91660895C>G uc003ulg.2 + 16 4540 c.4315C>G c.(4315-4317)CAA>GAA p.Q1439E AKAP9_uc003ule.2_Missense_Mutation_p.Q1451E|AKAP9_uc003ulf.2_Missense_Mutation_p.Q1439E|AKAP9_uc003uli.2_Missense_Mutation_p.Q1064E NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 1451 Potential. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ATACCAAGAACAATTAGAAGA 0.303 T BRAF papillary thyroid 7 78 --- --- --- --- PASS STAG3 10734 broad.mit.edu 37 7 99783901 99783901 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr7:99783901C>A uc003utx.1 + 5 570 c.415C>A c.(415-417)CAA>AAA p.Q139K STAG3_uc010lgs.1_5'UTR|STAG3_uc011kjk.1_Intron NM_012447 NP_036579 Q9UJ98 STAG3_HUMAN stromal antigen 3 139 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CTTTTTCATCCAATCTTGCGG 0.398 6 124 --- --- --- --- PASS STAG3 10734 broad.mit.edu 37 7 99809470 99809470 + Missense_Mutation SNP T G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr7:99809470T>G uc003utx.1 + 32 3723 c.3568T>G c.(3568-3570)TCA>GCA p.S1190A STAG3_uc011kjk.1_Missense_Mutation_p.S1132A|GATS_uc003uty.3_RNA|GATS_uc003utz.3_Intron|GATS_uc003uua.3_Intron|GATS_uc010lgt.2_Intron|STAG3_uc003uub.1_Missense_Mutation_p.S415A|GATS_uc011kjl.1_RNA|GATS_uc010lgu.2_RNA NM_012447 NP_036579 Q9UJ98 STAG3_HUMAN stromal antigen 3 1190 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CCAGGATGAGTCAAATGAAGA 0.483 14 83 --- --- --- --- PASS AGFG2 3268 broad.mit.edu 37 7 100161511 100161511 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr7:100161511C>A uc003uvf.2 + 10 1362 c.1226C>A c.(1225-1227)CCC>CAC p.P409H AGFG2_uc010lgy.2_Intron NM_006076 NP_006067 O95081 AGFG2_HUMAN ArfGAP with FG repeats 2 409 Pro-rich. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding central_nervous_system(1) 1 GCAGTGCCACCCACTGGGGCC 0.617 OREG0018204 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 48 --- --- --- --- PASS MLL5 55904 broad.mit.edu 37 7 104742347 104742347 + Silent SNP A G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr7:104742347A>G uc003vcm.2 + 17 2436 c.1902A>G c.(1900-1902)GAA>GAG p.E634E MLL5_uc010ljc.2_Silent_p.E634E|MLL5_uc010lje.1_RNA NM_182931 NP_891847 Q8IZD2 MLL5_HUMAN myeloid/lymphoid or mixed-lineage leukemia 5 634 cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent MLL5-L complex|nuclear speck enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding ovary(2)|pancreas(1) 3 AAGCAAAAGAAGAAAATGCTA 0.353 36 20 --- --- --- --- PASS CDHR3 222256 broad.mit.edu 37 7 105641957 105641957 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr7:105641957G>T uc003vdl.3 + 7 871 c.763G>T c.(763-765)GTG>TTG p.V255L CDHR3_uc003vdk.2_Intron|CDHR3_uc011kls.1_RNA|CDHR3_uc003vdm.3_Missense_Mutation_p.V242L|CDHR3_uc011klt.1_Missense_Mutation_p.V167L|CDHR3_uc003vdn.2_5'UTR NM_152750 NP_689963 Q6ZTQ4 CDHR3_HUMAN hypothetical protein LOC222256 precursor 255 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1) 1 AGGAACCATCGTGGCCAATAT 0.498 85 53 --- --- --- --- PASS NRCAM 4897 broad.mit.edu 37 7 107818549 107818549 + Missense_Mutation SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr7:107818549C>T uc003vfb.2 - 26 3331 c.2860G>A c.(2860-2862)GCT>ACT p.A954T NRCAM_uc003vfc.2_Missense_Mutation_p.A938T|NRCAM_uc011kmk.1_Missense_Mutation_p.A949T|NRCAM_uc003vfd.2_Missense_Mutation_p.A930T|NRCAM_uc003vfe.2_Missense_Mutation_p.A930T|NRCAM_uc011kmj.1_5'Flank NM_001037132 NP_001032209 Q92823 NRCAM_HUMAN neuronal cell adhesion molecule isoform A 954 Fibronectin type-III 4.|Extracellular (Potential). A -> V (in Ref. 8; CAA04507). angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding p.L954L(1) ovary(3)|breast(2) 5 GACGAGGGAGCACTGGGGACT 0.443 5 37 --- --- --- --- PASS NRCAM 4897 broad.mit.edu 37 7 107822332 107822332 + Silent SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr7:107822332G>T uc003vfb.2 - 24 3051 c.2580C>A c.(2578-2580)ACC>ACA p.T860T NRCAM_uc003vfc.2_Silent_p.T844T|NRCAM_uc011kmk.1_Silent_p.T855T|NRCAM_uc003vfd.2_Silent_p.T836T|NRCAM_uc003vfe.2_Silent_p.T836T NM_001037132 NP_001032209 Q92823 NRCAM_HUMAN neuronal cell adhesion molecule isoform A 860 Fibronectin type-III 3.|Extracellular (Potential). angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding ovary(3)|breast(2) 5 CCTCGGCTAAGGTACTGTTCA 0.478 5 52 --- --- --- --- PASS CTTNBP2 83992 broad.mit.edu 37 7 117400707 117400707 + Missense_Mutation SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr7:117400707C>T uc003vjf.2 - 10 3046 c.2954G>A c.(2953-2955)GGT>GAT p.G985D NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 985 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) GTCATCAGAACCATAGTTGCT 0.363 11 48 --- --- --- --- PASS AASS 10157 broad.mit.edu 37 7 121731799 121731799 + Missense_Mutation SNP C G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr7:121731799C>G uc003vka.2 - 17 2070 c.1974G>C c.(1972-1974)TTG>TTC p.L658F AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.L658F|AASS_uc011knw.1_Missense_Mutation_p.L146F NM_005763 NP_005754 Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase precursor 658 Saccharopine dehydrogenase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity upper_aerodigestive_tract(1)|ovary(1) 2 L-Glutamic Acid(DB00142)|NADH(DB00157) TTACATTCATCAAAACTCCCA 0.423 4 17 --- --- --- --- PASS METTL2B 55798 broad.mit.edu 37 7 128141838 128141838 + Silent SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr7:128141838C>A uc003vnf.2 + 9 1042 c.1005C>A c.(1003-1005)ACC>ACA p.T335T METTL2B_uc003vng.2_Silent_p.T270T|METTL2B_uc011kop.1_Silent_p.T199T NM_018396 NP_060866 Q6P1Q9 MTL2B_HUMAN methyltransferase like 2B 335 methyltransferase activity skin(1) 1 CGCTTTTCACCACTGCTGGAC 0.433 6 95 --- --- --- --- PASS FAM71F2 346653 broad.mit.edu 37 7 128315900 128315900 + Missense_Mutation SNP A G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr7:128315900A>G uc003vnk.3 + 2 458 c.352A>G c.(352-354)ATC>GTC p.I118V FAM71F2_uc010llm.1_Missense_Mutation_p.I109V|FAM71F2_uc003vnl.2_RNA|FAM71F2_uc010lln.1_RNA NM_001012454 NP_001012457 Q6NXP2 F71F2_HUMAN hypothetical protein LOC346653 isoform a 118 0 CGCCCCAGTCATCAACCTCAG 0.537 4 27 --- --- --- --- PASS FLNC 2318 broad.mit.edu 37 7 128493535 128493535 + Nonsense_Mutation SNP T A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr7:128493535T>A uc003vnz.3 + 38 6430 c.6221T>A c.(6220-6222)TTG>TAG p.L2074* FLNC_uc003voa.3_Nonsense_Mutation_p.L2041* NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 2074 Filamin 19. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 TATGGGGGCTTGGGGCTGAGT 0.592 25 11 --- --- --- --- PASS KIAA1549 57670 broad.mit.edu 37 7 138552813 138552813 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr7:138552813C>A uc011kql.1 - 15 4886 c.4837G>T c.(4837-4839)GAC>TAC p.D1613Y KIAA1549_uc011kqi.1_Missense_Mutation_p.D397Y|KIAA1549_uc003vuk.3_Missense_Mutation_p.D1563Y|KIAA1549_uc011kqj.1_Missense_Mutation_p.D1613Y|KIAA1549_uc011kqk.1_Missense_Mutation_p.D397Y NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 1613 integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 TTCTCAGCGTCGGCAGGACAG 0.577 O BRAF pilocytic astrocytoma 8 9 --- --- --- --- PASS RAB19 401409 broad.mit.edu 37 7 140111804 140111804 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr7:140111804G>T uc010lni.2 + 3 530 c.332G>T c.(331-333)TGG>TTG p.W111L RAB19_uc011krc.1_Missense_Mutation_p.W111L NM_001008749 NP_001008749 A4D1S5 RAB19_HUMAN RAB19, member RAS oncogene family 111 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding 0 Melanoma(164;0.0142) ATCCCTCACTGGATTCATGAG 0.493 6 116 --- --- --- --- PASS TMEM176A 55365 broad.mit.edu 37 7 150501463 150501463 + Missense_Mutation SNP C G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr7:150501463C>G uc003whx.1 + 6 647 c.569C>G c.(568-570)ACC>AGC p.T190S NM_018487 NP_060957 Q96HP8 T176A_HUMAN hepatocellular carcinoma-associated antigen 112 190 integral to membrane ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTGTTCAGAACCCTTCAGGCC 0.557 4 46 --- --- --- --- PASS ABP1 26 broad.mit.edu 37 7 150558048 150558048 + Silent SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr7:150558048G>A uc003why.1 + 6 6225 c.2007G>A c.(2005-2007)GTG>GTA p.V669V ABP1_uc003whz.1_Silent_p.V669V|ABP1_uc003wia.1_Silent_p.V688V NM_001091 NP_001082 P19801 ABP1_HUMAN amiloride binding protein 1 precursor 669 amine metabolic process extracellular space|peroxisome copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding ovary(2)|breast(2)|skin(2) 6 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiloride(DB00594)|Spermine(DB00127) TGGCCTGGGTGACGGTGGGCT 0.597 7 37 --- --- --- --- PASS ERICH1 157697 broad.mit.edu 37 8 623443 623443 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr8:623443C>A uc003wph.2 - 4 974 c.909G>T c.(907-909)GAG>GAT p.E303D ERICH1_uc011kwh.1_Missense_Mutation_p.E303D|ERICH1_uc003wpe.1_Missense_Mutation_p.E209D|ERICH1_uc003wpi.2_Missense_Mutation_p.E115D NM_207332 NP_997215 Q86X53 ERIC1_HUMAN glutamate-rich 1 303 Glu-rich. large_intestine(2) 2 Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236) Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325) TCGGGTCTTCCTCGCTGGCGT 0.617 13 93 --- --- --- --- PASS MCPH1 79648 broad.mit.edu 37 8 6302384 6302384 + Missense_Mutation SNP A G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr8:6302384A>G uc003wqi.2 + 8 1209 c.1141A>G c.(1141-1143)ATC>GTC p.I381V MCPH1_uc003wqh.2_Missense_Mutation_p.I381V|MCPH1_uc011kwl.1_Missense_Mutation_p.I333V NM_024596 NP_078872 Q8NEM0 MCPH1_HUMAN microcephalin 381 microtubule organizing center central_nervous_system(1)|skin(1) 2 Hepatocellular(245;0.0663) Colorectal(4;0.0505) CAGGAGATCTATCATGCCGAG 0.532 11 38 --- --- --- --- PASS PRSS55 203074 broad.mit.edu 37 8 10390507 10390507 + Silent SNP C G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr8:10390507C>G uc003wta.2 + 4 705 c.690C>G c.(688-690)ACC>ACG p.T230T uc010lru.2_Intron|PRSS55_uc003wtb.2_RNA NM_198464 NP_940866 Q6UWB4 PRS55_HUMAN hypothetical protein LOC203074 precursor 230 Extracellular (Potential).|Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity ovary(1) 1 CAAAACTTACCAAAAATATGC 0.483 18 33 --- --- --- --- PASS TUSC3 7991 broad.mit.edu 37 8 15601052 15601052 + Missense_Mutation SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr8:15601052G>A uc003wwt.2 + 8 1078 c.868G>A c.(868-870)GCT>ACT p.A290T TUSC3_uc003wwu.2_Missense_Mutation_p.A290T|TUSC3_uc003wwv.2_Missense_Mutation_p.A290T|TUSC3_uc003www.2_Missense_Mutation_p.A290T|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Silent_p.P268P NM_006765 NP_006756 Q13454 TUSC3_HUMAN tumor suppressor candidate 3 isoform a 290 Helical; (Potential). cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex ovary(2)|central_nervous_system(1) 3 Colorectal(111;0.113) TGCAGATGCCGCTATCACCAT 0.393 13 46 --- --- --- --- PASS PPP2R2A 5520 broad.mit.edu 37 8 26218532 26218532 + Missense_Mutation SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr8:26218532C>T uc003xeu.2 + 6 804 c.502C>T c.(502-504)CCA>TCA p.P168S PPP2R2A_uc003xek.2_Intron|PPP2R2A_uc011laf.1_Missense_Mutation_p.P178S NM_002717 NP_002708 P63151 2ABA_HUMAN alpha isoform of regulatory subunit B55, protein 168 protein dephosphorylation|signal transduction protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity ovary(1)|kidney(1) 2 all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155) TGAGGCCAGTCCACGAAGAAT 0.348 4 24 --- --- --- --- PASS ZNF395 55893 broad.mit.edu 37 8 28210186 28210186 + Missense_Mutation SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr8:28210186G>A uc003xgq.2 - 6 912 c.824C>T c.(823-825)TCT>TTT p.S275F ZNF395_uc003xgt.2_Missense_Mutation_p.S275F|ZNF395_uc003xgr.2_Missense_Mutation_p.S275F|ZNF395_uc003xgs.2_Missense_Mutation_p.S275F NM_018660 NP_061130 Q9H8N7 ZN395_HUMAN zinc finger protein 395 275 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding 0 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) CACCTTCACAGAGTTCTACAG 0.527 10 50 --- --- --- --- PASS FBXO16 157574 broad.mit.edu 37 8 28321168 28321168 + Silent SNP A G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr8:28321168A>G uc003xgu.2 - 4 401 c.303T>C c.(301-303)TTT>TTC p.F101F ZNF395_uc003xgt.2_5'UTR|FBXO16_uc003xgv.2_Silent_p.F88F|FBXO16_uc003xgw.2_Silent_p.F88F NM_172366 NP_758954 Q8IX29 FBX16_HUMAN F-box only protein 16 101 F-box. ovary(1) 1 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249) CCAGGAAAGAAAAGATGTATA 0.458 4 29 --- --- --- --- PASS PRKDC 5591 broad.mit.edu 37 8 48855900 48855900 + Missense_Mutation SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr8:48855900C>T uc003xqi.2 - 10 892 c.835G>A c.(835-837)GCA>ACA p.A279T PRKDC_uc003xqj.2_Missense_Mutation_p.A279T|PRKDC_uc011ldh.1_Missense_Mutation_p.A279T NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 279 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AACTGAGATGCATGCAGGGCA 0.428 NHEJ 12 22 --- --- --- --- PASS PXDNL 137902 broad.mit.edu 37 8 52252215 52252215 + Missense_Mutation SNP A T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr8:52252215A>T uc003xqu.3 - 21 4216 c.4115T>A c.(4114-4116)ATT>AAT p.I1372N PXDNL_uc003xqt.3_Intron NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 1372 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GGTTTCCTGAATTTCCGCTGC 0.378 20 63 --- --- --- --- PASS PCMTD1 115294 broad.mit.edu 37 8 52733117 52733117 + Missense_Mutation SNP A G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr8:52733117A>G uc003xqx.3 - 6 1209 c.868T>C c.(868-870)TTT>CTT p.F290L PCMTD1_uc011ldm.1_Missense_Mutation_p.F160L|PCMTD1_uc003xqw.3_Missense_Mutation_p.F290L|PCMTD1_uc011ldn.1_Missense_Mutation_p.F102L|PCMTD1_uc010lya.2_Missense_Mutation_p.F214L NM_052937 NP_443169 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) 290 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity 0 Lung NSC(129;0.0795)|all_lung(136;0.144) TTACCCACAAATACGTAAGTG 0.303 11 223 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77767709 77767709 + Missense_Mutation SNP C G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr8:77767709C>G uc003yav.2 + 10 8804 c.8417C>G c.(8416-8418)CCT>CGT p.P2806R ZFHX4_uc003yau.1_Missense_Mutation_p.P2851R|ZFHX4_uc003yaw.1_Missense_Mutation_p.P2806R NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2806 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CTGCCAAAACCTGCAACCACA 0.483 HNSCC(33;0.089) 24 79 --- --- --- --- PASS POP1 10940 broad.mit.edu 37 8 99148753 99148753 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr8:99148753C>A uc003yij.3 + 8 1155 c.1055C>A c.(1054-1056)CCC>CAC p.P352H POP1_uc011lgv.1_Missense_Mutation_p.P352H|POP1_uc003yik.2_Missense_Mutation_p.P352H NM_001145860 NP_001139332 Q99575 POP1_HUMAN processing of precursor 1 352 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity ovary(1)|breast(1) 2 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) TGTGTGGAACCCATCAAATCA 0.358 9 248 --- --- --- --- PASS KLF10 7071 broad.mit.edu 37 8 103664484 103664484 + Missense_Mutation SNP C G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr8:103664484C>G uc011lhk.1 - 2 332 c.178G>C c.(178-180)GTT>CTT p.V60L KLF10_uc011lhj.1_Missense_Mutation_p.V49L NM_005655 NP_005646 Q13118 KLF10_HUMAN Kruppel-like factor 10 isoform a 60 cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169) OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826) CTGTTTTCAACGTATTTCTTA 0.383 OREG0018913 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 82 --- --- --- --- PASS RAD21 5885 broad.mit.edu 37 8 117869513 117869513 + Silent SNP T C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr8:117869513T>C uc003yod.2 - 6 969 c.681A>G c.(679-681)GGA>GGG p.G227G NM_006265 NP_006256 O60216 RAD21_HUMAN RAD21 homolog 227 apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding lung(1)|skin(1) 2 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) TACCTAATATTCCACCATCAT 0.323 30 35 --- --- --- --- PASS ZHX2 22882 broad.mit.edu 37 8 123964361 123964361 + Missense_Mutation SNP A T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr8:123964361A>T uc003ypk.1 + 3 1178 c.611A>T c.(610-612)GAG>GTG p.E204V NM_014943 NP_055758 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 204 Required for homodimerization. cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) AAGAAGCCCGAGGAGATCACC 0.587 85 86 --- --- --- --- PASS C8orf76 84933 broad.mit.edu 37 8 124238808 124238808 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr8:124238808G>T uc003yqc.1 - 5 911 c.880C>A c.(880-882)CAG>AAG p.Q294K C8orf76_uc003yqd.2_Missense_Mutation_p.Q262K NM_032847 NP_116236 Q96K31 CH076_HUMAN hypothetical protein LOC84933 294 binding ovary(2) 2 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) ATTTCCTGCTGAGTCCTTAAG 0.433 5 78 --- --- --- --- PASS C8orf76 84933 broad.mit.edu 37 8 124250108 124250108 + Missense_Mutation SNP T C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr8:124250108T>C uc003yqc.1 - 3 318 c.287A>G c.(286-288)CAG>CGG p.Q96R C8orf76_uc003yqd.2_Missense_Mutation_p.Q64R NM_032847 NP_116236 Q96K31 CH076_HUMAN hypothetical protein LOC84933 96 binding ovary(2) 2 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) CTGACCTTCCTGGACATCCCT 0.418 8 49 --- --- --- --- PASS PHF20L1 51105 broad.mit.edu 37 8 133816063 133816063 + Splice_Site SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr8:133816063G>T uc003ytt.2 + 7 833 c.508_splice c.e7-1 p.D170_splice PHF20L1_uc003ytr.2_Splice_Site_p.D144_splice|PHF20L1_uc010mdv.2_Splice_Site_p.D144_splice|PHF20L1_uc003yts.2_Splice_Site_p.D170_splice|PHF20L1_uc011lja.1_Splice_Site_p.D144_splice|PHF20L1_uc003ytu.1_Splice_Site|PHF20L1_uc003ytv.2_Missense_Mutation_p.E8D NM_016018 NP_057102 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 isoform 1 nucleic acid binding|zinc ion binding ovary(2) 2 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) TTCCTTTGGAGGATTGGATAG 0.333 3 4 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139164022 139164022 + Missense_Mutation SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr8:139164022G>A uc003yuy.2 - 13 2867 c.2696C>T c.(2695-2697)GCA>GTA p.A899V FAM135B_uc003yux.2_Missense_Mutation_p.A800V|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.A461V|FAM135B_uc003yvb.2_Missense_Mutation_p.A461V NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 899 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TTCCTCAAGTGCTCTATGAAG 0.463 HNSCC(54;0.14) 95 67 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139277998 139277998 + Missense_Mutation SNP G C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr8:139277998G>C uc003yuy.2 - 4 416 c.245C>G c.(244-246)CCC>CGC p.P82R FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 82 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) ATCATTTATGGGTACCTCTTC 0.488 HNSCC(54;0.14) 9 50 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139323156 139323156 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr8:139323156G>T uc003yuy.2 - 3 256 c.85C>A c.(85-87)CAG>AAG p.Q29K FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 29 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) ACTCGGATCTGGTAATACCTA 0.473 HNSCC(54;0.14) 6 75 --- --- --- --- PASS ZNF16 7564 broad.mit.edu 37 8 146156985 146156985 + Silent SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr8:146156985C>T uc003zet.2 - 4 1375 c.1188G>A c.(1186-1188)CAG>CAA p.Q396Q ZNF16_uc003zeu.2_Silent_p.Q396Q NM_001029976 NP_001025147 P17020 ZNF16_HUMAN zinc finger protein 16 396 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) TGTGGACCCTCTGGTGCTTCC 0.532 24 91 --- --- --- --- PASS C9orf93 203238 broad.mit.edu 37 9 15744423 15744423 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr9:15744423G>T uc003zmd.2 + 17 2517 c.2202G>T c.(2200-2202)ATG>ATT p.M734I C9orf93_uc010mih.1_Missense_Mutation_p.M742I|C9orf93_uc003zme.2_Missense_Mutation_p.M649I|C9orf93_uc011lmu.1_Missense_Mutation_p.M742I|C9orf93_uc003zmf.1_Missense_Mutation_p.M42I NM_173550 NP_775821 Q6TFL3 CI093_HUMAN hypothetical protein LOC203238 734 0 GBM - Glioblastoma multiforme(50;4.84e-07) GTGCATTAATGGCTGGTGCCT 0.453 4 33 --- --- --- --- PASS TAF1L 138474 broad.mit.edu 37 9 32630224 32630224 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr9:32630224G>T uc003zrg.1 - 1 5444 c.5354C>A c.(5353-5355)CCT>CAT p.P1785H NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 1785 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) AGCAGAGAAAGGATTGTCTCC 0.458 6 82 --- --- --- --- PASS CCIN 881 broad.mit.edu 37 9 36169849 36169849 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr9:36169849G>T uc003zzb.3 + 1 461 c.350G>T c.(349-351)CGA>CTA p.R117L NM_005893 NP_005884 Q13939 CALI_HUMAN calicin 117 BTB. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton ovary(1)|skin(1) 2 STAD - Stomach adenocarcinoma(86;0.228) CCACGCCTTCGAGTTCACTGT 0.507 4 63 --- --- --- --- PASS TRPM3 80036 broad.mit.edu 37 9 73151043 73151043 + Silent SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr9:73151043G>T uc004aid.2 - 25 5194 c.4950C>A c.(4948-4950)ACC>ACA p.T1650T TRPM3_uc004ahu.2_Silent_p.T1492T|TRPM3_uc004ahv.2_Silent_p.T1452T|TRPM3_uc004ahw.2_Silent_p.T1522T|TRPM3_uc004ahx.2_Silent_p.T1509T|TRPM3_uc004ahy.2_Silent_p.T1512T|TRPM3_uc004ahz.2_Silent_p.T1499T|TRPM3_uc004aia.2_Silent_p.T1497T|TRPM3_uc004aib.2_Silent_p.T1487T|TRPM3_uc004aic.2_Intron NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 1675 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 AGCTCTTCCTGGTGTGTGCAT 0.552 9 217 --- --- --- --- PASS TRPM6 140803 broad.mit.edu 37 9 77377583 77377583 + Missense_Mutation SNP C A A rs147802849 TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr9:77377583C>A uc004ajl.1 - 26 4242 c.4004G>T c.(4003-4005)AGG>ATG p.R1335M TRPM6_uc004ajk.1_Missense_Mutation_p.R1330M|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.R291M NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 1335 Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 GTGTGCTTGCCTGTTAGGAGA 0.438 70 59 --- --- --- --- PASS FAM22G 441457 broad.mit.edu 37 9 99699593 99699593 + Silent SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr9:99699593G>A uc004awq.1 + 5 1945 c.1230G>A c.(1228-1230)GTG>GTA p.V410V HIATL2_uc004awr.1_Intron NM_001045477 NP_001038942 Q5VZR2 FA22G_HUMAN hypothetical protein LOC441457 410 skin(1) 1 Acute lymphoblastic leukemia(62;0.0527) AGGGCAAAGTGGAGCAGCCGC 0.592 15 20 --- --- --- --- PASS SLC31A1 1317 broad.mit.edu 37 9 116021055 116021055 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr9:116021055G>T uc004bgu.2 + 4 470 c.284G>T c.(283-285)CGT>CTT p.R95L FKBP15_uc010muu.1_Intron|SLC31A1_uc004bgv.3_Missense_Mutation_p.R95L NM_001859 NP_001850 O15431 COPT1_HUMAN solute carrier family 31 (copper transporters), 95 Cytoplasmic (Potential). integral to plasma membrane copper ion transmembrane transporter activity 0 AGCCTGCTGCGTAAGTCACAA 0.448 4 49 --- --- --- --- PASS TLR4 7099 broad.mit.edu 37 9 120475065 120475065 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr9:120475065C>A uc004bjz.2 + 3 950 c.659C>A c.(658-660)CCA>CAA p.P220Q TLR4_uc004bka.2_Missense_Mutation_p.P180Q|TLR4_uc004bkb.2_Missense_Mutation_p.P20Q NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 220 LRR 7.|Extracellular (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 TTTATCCAACCAGGTGCATTT 0.353 19 19 --- --- --- --- PASS OR1L3 26735 broad.mit.edu 37 9 125437632 125437632 + Missense_Mutation SNP C G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr9:125437632C>G uc011lzb.1 + 1 224 c.224C>G c.(223-225)ACA>AGA p.T75R NM_001005234 NP_001005234 Q8NH93 OR1L3_HUMAN olfactory receptor, family 1, subfamily L, 75 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TGCTACACAACAGTCATAGTC 0.398 30 79 --- --- --- --- PASS LCN1 3933 broad.mit.edu 37 9 138416976 138416976 + Splice_Site SNP A G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr9:138416976A>G uc004cfz.1 + 6 564 c.506_splice c.e6-2 p.E169_splice LCN1_uc004cga.1_Splice_Site_p.E169_splice NM_002297 NP_002288 P31025 LCN1_HUMAN lipocalin 1 precursor proteolysis|response to stimulus|sensory perception of taste extracellular region cysteine-type endopeptidase inhibitor activity|transporter activity 0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155) CTTTTCCTGCAGAAACCTGCT 0.567 22 25 --- --- --- --- PASS INPP5E 56623 broad.mit.edu 37 9 139333230 139333230 + Silent SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr9:139333230C>A uc004cho.2 - 1 1027 c.642G>T c.(640-642)TCG>TCT p.S214S INPP5E_uc010nbm.2_Silent_p.S214S NM_019892 NP_063945 Q9NRR6 INP5E_HUMAN inositol polyphosphate-5-phosphatase E 214 13 X 4 AA repeats of P-X-X-P. cilium axoneme|cytoskeleton|Golgi cisterna membrane inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity skin(1) 1 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05) CTGCAAGATCCGAGTCGACCT 0.731 8 4 --- --- --- --- PASS NELF 26012 broad.mit.edu 37 9 140352952 140352952 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr9:140352952G>T uc004cna.2 - 2 353 c.121C>A c.(121-123)CGC>AGC p.R41S C9orf167_uc011mew.1_Intron|NELF_uc010nci.2_5'Flank|NELF_uc011mey.1_5'Flank|NELF_uc011mez.1_Missense_Mutation_p.R41S|NELF_uc004cmz.2_Missense_Mutation_p.R41S|NELF_uc004cnc.2_Missense_Mutation_p.R41S|NELF_uc004cnb.2_Missense_Mutation_p.R41S NM_001130969 NP_001124441 Q6X4W1 NELF_HUMAN nasal embryonic LHRH factor isoform a 41 nucleus|plasma membrane 0 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888) GCGCCGTTGCGGTTCTCAGGG 0.692 3 3 --- --- --- --- PASS GTPBP4 23560 broad.mit.edu 37 10 1043236 1043236 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr10:1043236C>A uc001ift.2 + 5 620 c.549C>A c.(547-549)AGC>AGA p.S183R GTPBP4_uc010qac.1_5'UTR|GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_Missense_Mutation_p.S67R|GTPBP4_uc010qae.1_Missense_Mutation_p.S136R NM_012341 NP_036473 Q9BZE4 NOG1_HUMAN G protein-binding protein CRFG 183 negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis nucleolus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding ovary(1)|skin(1) 2 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) GGAAGTCCAGCTTCATCAACA 0.458 24 74 --- --- --- --- PASS SVIL 6840 broad.mit.edu 37 10 29812458 29812458 + Missense_Mutation SNP A C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr10:29812458A>C uc001iut.1 - 15 3838 c.3085T>G c.(3085-3087)TTG>GTG p.L1029V SVIL_uc010qdw.1_5'Flank|SVIL_uc001iuu.1_Missense_Mutation_p.L603V NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 1029 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) CTCAAGTCCAAGTTTCCTTGT 0.498 14 19 --- --- --- --- PASS ZNF239 8187 broad.mit.edu 37 10 44052891 44052891 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr10:44052891C>A uc001jaw.3 - 2 1290 c.637G>T c.(637-639)GGT>TGT p.G213C ZNF239_uc001jax.3_Missense_Mutation_p.G213C|ZNF239_uc009xmj.2_Missense_Mutation_p.G213C|ZNF239_uc009xmk.2_Missense_Mutation_p.G213C NM_005674 NP_005665 Q16600 ZN239_HUMAN zinc finger protein 239 213 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|RNA binding|zinc ion binding 0 AAGTTCTTACCACACTGACTA 0.423 5 48 --- --- --- --- PASS LRRC20 55222 broad.mit.edu 37 10 72061170 72061170 + Silent SNP C T T rs149319681 TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr10:72061170C>T uc001jqx.1 - 5 717 c.495G>A c.(493-495)CCG>CCA p.P165P LRRC20_uc001jqy.1_Silent_p.P109P|LRRC20_uc001jqz.1_Silent_p.P115P NM_207119 NP_997002 Q8TCA0 LRC20_HUMAN leucine rich repeat containing 20 isoform 1 165 LRR 5. 0 TGATGAGCGGCGGGGCGATCA 0.632 34 15 --- --- --- --- PASS PTEN 5728 broad.mit.edu 37 10 89717678 89717678 + Nonsense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr10:89717678G>T uc001kfb.2 + 8 1734 c.703G>T c.(703-705)GAA>TAA p.E235* NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 235 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.E235*(4)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.E235fs*9(1)|p.G165_K342del(1)|p.E235fs*25(1)|p.E235G(1)|p.R234fs*9(1)|p.R233fs*20(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) CACACGACGGGAAGACAAGTT 0.418 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 36 24 --- --- --- --- PASS IFIT3 3437 broad.mit.edu 37 10 91099511 91099511 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr10:91099511C>A uc001kgf.2 + 2 1328 c.1099C>A c.(1099-1101)CTT>ATT p.L367I LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron|IFIT3_uc001kgg.2_Missense_Mutation_p.L367I NM_001549 NP_001540 O14879 IFIT3_HUMAN interferon-induced protein with 367 type I interferon-mediated signaling pathway protein binding central_nervous_system(1) 1 CTACTGCAACCTTCAGAAATA 0.433 71 31 --- --- --- --- PASS KIF20B 9585 broad.mit.edu 37 10 91486250 91486250 + Silent SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr10:91486250C>A uc001kgs.1 + 16 2274 c.2202C>A c.(2200-2202)ACC>ACA p.T734T KIF20B_uc001kgr.1_Silent_p.T694T|KIF20B_uc001kgt.1_5'UTR NM_016195 NP_057279 Q96Q89 KI20B_HUMAN M-phase phosphoprotein 1 734 Potential. cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding ovary(1)|pancreas(1)|skin(1) 3 TAATCAAAACCAAAGAAGAGT 0.303 4 22 --- --- --- --- PASS SEC31B 25956 broad.mit.edu 37 10 102262016 102262016 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr10:102262016G>T uc001krc.1 - 11 1507 c.1405C>A c.(1405-1407)CTG>ATG p.L469M SEC31B_uc010qpo.1_Missense_Mutation_p.L468M|SEC31B_uc001krd.1_Translation_Start_Site|SEC31B_uc001krf.1_Translation_Start_Site|SEC31B_uc001kre.1_Translation_Start_Site|SEC31B_uc001krg.1_Missense_Mutation_p.L38M NM_015490 NP_056305 Q9NQW1 SC31B_HUMAN SEC31 homolog B 469 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane ovary(1) 1 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) CCCACCTTCAGGAACTGCCAC 0.512 7 140 --- --- --- --- PASS SFXN2 118980 broad.mit.edu 37 10 104491932 104491932 + Silent SNP C A A rs139737561 byFrequency TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr10:104491932C>A uc001kwb.2 + 8 844 c.678C>A c.(676-678)ACC>ACA p.T226T SFXN2_uc001kwc.2_Intron|SFXN2_uc001kwd.2_Intron NM_178858 NP_849189 Q96NB2 SFXN2_HUMAN sideroflexin 2 226 iron ion homeostasis integral to membrane cation transmembrane transporter activity 0 Colorectal(252;0.207) Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218) TAGGCATCACCCAAGTAGTTA 0.532 6 92 --- --- --- --- PASS CNNM2 54805 broad.mit.edu 37 10 104679115 104679115 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr10:104679115G>T uc001kwm.2 + 1 1002 c.878G>T c.(877-879)TGC>TTC p.C293F CNNM2_uc001kwn.2_Missense_Mutation_p.C293F|CNNM2_uc001kwl.2_Missense_Mutation_p.C293F NM_017649 NP_060119 Q9H8M5 CNNM2_HUMAN cyclin M2 isoform 1 293 DUF21. ion transport integral to membrane ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) GTGCAGAACTGCGGCACGGAG 0.622 26 17 --- --- --- --- PASS C10orf79 80217 broad.mit.edu 37 10 105903234 105903234 + Missense_Mutation SNP A C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr10:105903234A>C uc001kxw.2 - 32 4224 c.4108T>G c.(4108-4110)TGG>GGG p.W1370G C10orf79_uc009xxq.2_Missense_Mutation_p.W649G NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN hypothetical protein LOC80217 1370 0 Colorectal(252;0.178) Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194) AAATGATTCCAGACCAAAGGG 0.343 11 33 --- --- --- --- PASS CCDC147 159686 broad.mit.edu 37 10 106152087 106152087 + Missense_Mutation SNP C G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr10:106152087C>G uc001kyh.2 + 10 1596 c.1462C>G c.(1462-1464)CAG>GAG p.Q488E NM_001008723 NP_001008723 Q5T655 CC147_HUMAN coiled-coil domain containing 147 488 Potential. ovary(2)|central_nervous_system(2)|skin(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) AAAACAGCAACAGAACCTATA 0.323 10 82 --- --- --- --- PASS AFAP1L2 84632 broad.mit.edu 37 10 116075338 116075338 + Missense_Mutation SNP A G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr10:116075338A>G uc001lbn.2 - 6 894 c.593T>C c.(592-594)ATC>ACC p.I198T AFAP1L2_uc001lbo.2_Missense_Mutation_p.I198T|AFAP1L2_uc010qse.1_Missense_Mutation_p.I251T|AFAP1L2_uc001lbp.2_Missense_Mutation_p.I226T|AFAP1L2_uc001lbr.1_Missense_Mutation_p.I198T NM_001001936 NP_001001936 Q8N4X5 AF1L2_HUMAN KIAA1914 protein isoform 1 198 PH 1. inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle cytoplasm protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding ovary(1)|breast(1) 2 Colorectal(252;0.175)|Breast(234;0.231) Epithelial(162;0.0219)|all cancers(201;0.0561) GTTGTCCTTGATGACACAGAG 0.632 5 31 --- --- --- --- PASS FOXI2 399823 broad.mit.edu 37 10 129537185 129537185 + Missense_Mutation SNP C G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr10:129537185C>G uc009yas.2 + 2 913 c.913C>G c.(913-915)CGC>GGC p.R305G uc009yar.1_5'Flank NM_207426 NP_997309 Q6ZQN5 FOXI2_HUMAN forkhead box I2 305 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) CGCCGGCTTCCGCCTCAGTCA 0.697 3 1 --- --- --- --- PASS JAKMIP3 282973 broad.mit.edu 37 10 133976837 133976837 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr10:133976837G>T uc001lkx.3 + 19 2339 c.2339G>T c.(2338-2340)CGC>CTC p.R780L JAKMIP3_uc009yba.1_Missense_Mutation_p.R217L NM_001105521 NP_001098991 Janus kinase and microtubule interacting protein breast(1) 1 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) CAGTGGAAGCGCCAGGTCATG 0.672 3 10 --- --- --- --- PASS SYT9 143425 broad.mit.edu 37 11 7324382 7324382 + Silent SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr11:7324382C>T uc001mfe.2 + 2 495 c.258C>T c.(256-258)GGC>GGT p.G86G SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA NM_175733 NP_783860 Q86SS6 SYT9_HUMAN synaptotagmin IX 86 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|large_intestine(1) 3 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) GAGAACGAGGCCTGCCCTCTG 0.552 19 65 --- --- --- --- PASS OR5P2 120065 broad.mit.edu 37 11 7818198 7818198 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr11:7818198C>A uc001mfp.1 - 1 292 c.292G>T c.(292-294)GGT>TGT p.G98C NM_153444 NP_703145 Q8WZ92 OR5P2_HUMAN olfactory receptor, family 5, subfamily P, 98 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2)|central_nervous_system(1) 5 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) GCCGCTGAACCAAGCTGGATG 0.488 18 92 --- --- --- --- PASS ST5 6764 broad.mit.edu 37 11 8737260 8737260 + Silent SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr11:8737260G>A uc001mgt.2 - 6 1921 c.1735C>T c.(1735-1737)CTG>TTG p.L579L ST5_uc009yfr.2_Silent_p.L159L|ST5_uc001mgu.2_Silent_p.L159L|ST5_uc001mgv.2_Silent_p.L579L|ST5_uc010rbq.1_RNA|ST5_uc010rbp.1_Silent_p.L92L NM_213618 NP_998783 P78524 ST5_HUMAN suppression of tumorigenicity 5 isoform 1 579 positive regulation of ERK1 and ERK2 cascade protein binding upper_aerodigestive_tract(1) 1 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) GCCAGCAGCAGCATGTCGTCA 0.637 13 19 --- --- --- --- PASS MRVI1 10335 broad.mit.edu 37 11 10651189 10651189 + Missense_Mutation SNP T C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr11:10651189T>C uc010rcc.1 - 5 856 c.470A>G c.(469-471)AAG>AGG p.K157R MRVI1_uc001miw.2_Missense_Mutation_p.K148R|MRVI1_uc010rcb.1_Missense_Mutation_p.K148R|MRVI1_uc009ygb.1_5'UTR|MRVI1_uc001mix.2_5'UTR|MRVI1_uc001miz.2_Missense_Mutation_p.K66R|MRVI1_uc009ygc.1_Missense_Mutation_p.K66R|MRVI1_uc010rcd.1_Missense_Mutation_p.K157R|MRVI1_uc009ygd.1_5'UTR|MRVI1_uc010rce.1_RNA NM_001100167 NP_001093637 Q9Y6F6 MRVI1_HUMAN JAW1-related protein isoform c 148 Interaction with PRKG1 (By similarity). platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum ovary(2)|central_nervous_system(1) 3 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) GTTTTTCTTCTTGTCCTCCTC 0.597 4 13 --- --- --- --- PASS ABCC8 6833 broad.mit.edu 37 11 17415307 17415307 + Splice_Site SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr11:17415307C>A uc001mnc.2 - 38 4672 c.4546_splice c.e38-1 p.E1516_splice NM_000352 NP_000343 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C, member 8 carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) GGATGTTTTCCTGCCAAGTGG 0.617 25 48 --- --- --- --- PASS ABCC8 6833 broad.mit.edu 37 11 17415308 17415308 + Splice_Site SNP T A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr11:17415308T>A uc001mnc.2 - 38 4672 c.4546_splice c.e38-1 p.E1516_splice NM_000352 NP_000343 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C, member 8 carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) GATGTTTTCCTGCCAAGTGGG 0.617 24 48 --- --- --- --- PASS MYOD1 4654 broad.mit.edu 37 11 17741532 17741532 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr11:17741532C>A uc001mni.2 + 1 423 c.203C>A c.(202-204)GCG>GAG p.A68E NM_002478 NP_002469 P15172 MYOD1_HUMAN myogenic differentiation 1 68 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development nuclear chromatin|transcription factor complex E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity breast(2)|ovary(1) 3 TTCCCCGCGGCGGTGCACCCG 0.721 3 3 --- --- --- --- PASS TSG101 7251 broad.mit.edu 37 11 18536390 18536390 + Splice_Site SNP T G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr11:18536390T>G uc001mor.2 - 4 320 c.194_splice c.e4-1 p.G65_splice TSG101_uc001mos.1_Splice_Site_p.G13_splice|TSG101_uc009yhs.1_Intron NM_006292 NP_006283 Q99816 TS101_HUMAN tumor susceptibility gene 101 cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding 0 ATGTATTACCTGAAAAAGAAA 0.294 14 33 --- --- --- --- PASS C11orf41 25758 broad.mit.edu 37 11 33564293 33564293 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr11:33564293G>T uc001mup.3 + 1 417 c.293G>T c.(292-294)GGA>GTA p.G98V C11orf41_uc001mun.1_Missense_Mutation_p.G98V NM_012194 NP_036326 Q6ZVL6 CK041_HUMAN hypothetical protein LOC25758 98 integral to membrane ovary(2) 2 GGGGTGCCTGGAAGAGTGCAC 0.527 12 18 --- --- --- --- PASS CD44 960 broad.mit.edu 37 11 35227670 35227670 + Missense_Mutation SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr11:35227670C>T uc001mvu.2 + 11 1728 c.1294C>T c.(1294-1296)CAT>TAT p.H432Y CD44_uc001mvv.2_Missense_Mutation_p.H389Y|CD44_uc001mvw.2_Intron|CD44_uc001mvx.2_Intron|CD44_uc001mvy.2_Intron|CD44_uc001mwc.3_Intron|CD44_uc010rer.1_Intron|CD44_uc009ykh.2_Intron|CD44_uc010res.1_5'UTR|CD44_uc010ret.1_Intron|CD44_uc010reu.1_Intron NM_000610 NP_000601 P16070 CD44_HUMAN CD44 antigen isoform 1 precursor 432 Extracellular (Potential).|Stem. cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation cell surface|Golgi apparatus|integral to plasma membrane collagen binding|hyaluronic acid binding|receptor activity pancreas(1) 1 all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.00731) Hyaluronidase(DB00070) AGCCTCAGCTCATACCAGCCA 0.458 11 37 --- --- --- --- PASS OR4B1 119765 broad.mit.edu 37 11 48238439 48238439 + Missense_Mutation SNP T A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr11:48238439T>A uc010rhs.1 + 1 78 c.78T>A c.(76-78)TTT>TTA p.F26L NM_001005470 NP_001005470 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, 26 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|pancreas(1) 4 GTGTATGCTTTGTGGTGTTTC 0.498 9 56 --- --- --- --- PASS OR4C13 283092 broad.mit.edu 37 11 49974618 49974618 + Missense_Mutation SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr11:49974618C>T uc010rhz.1 + 1 644 c.644C>T c.(643-645)TCC>TTC p.S215F NM_001001955 NP_001001955 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, 215 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(1) 4 CTCCTGGTCTCCTGCGTGGTC 0.488 21 30 --- --- --- --- PASS OR4C6 219432 broad.mit.edu 37 11 55433437 55433437 + Silent SNP A T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr11:55433437A>T uc001nht.3 + 3 1060 c.795A>T c.(793-795)ATA>ATT p.I265I OR4C6_uc010rik.1_Silent_p.I265I NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 265 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 CTCACCCCATAGACAAGGCAA 0.473 11 90 --- --- --- --- PASS OR5L2 26338 broad.mit.edu 37 11 55595379 55595379 + Missense_Mutation SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr11:55595379C>T uc001nhy.1 + 1 685 c.685C>T c.(685-687)CAC>TAC p.H229Y NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 229 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) CCTGAAGATACACTCTGCAGA 0.493 HNSCC(27;0.073) 28 42 --- --- --- --- PASS OR5I1 10798 broad.mit.edu 37 11 55703717 55703717 + Missense_Mutation SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr11:55703717C>T uc010ris.1 - 1 160 c.160G>A c.(160-162)GAT>AAT p.D54N NM_006637 NP_006628 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, 54 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 AGGTGAGGATCAATCCTGATC 0.398 5 12 --- --- --- --- PASS OR8I2 120586 broad.mit.edu 37 11 55861574 55861574 + Missense_Mutation SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr11:55861574C>T uc010rix.1 + 1 791 c.791C>T c.(790-792)ACA>ATA p.T264I NM_001003750 NP_001003750 Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, 264 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Esophageal squamous(21;0.00693) CCTGATAACACATCATCGCTG 0.478 9 35 --- --- --- --- PASS OR9G4 283189 broad.mit.edu 37 11 56510796 56510796 + Silent SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr11:56510796G>A uc010rjo.1 - 1 492 c.492C>T c.(490-492)TAC>TAT p.Y164Y NM_001005284 NP_001005284 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, 164 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 ATCCTCCTATGTAGGAGCCAG 0.463 37 50 --- --- --- --- PASS OR5B2 390190 broad.mit.edu 37 11 58190505 58190505 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr11:58190505G>T uc010rkg.1 - 1 230 c.230C>A c.(229-231)CCC>CAC p.P77H NM_001005566 NP_001005566 Q96R09 OR5B2_HUMAN olfactory receptor, family 5, subfamily B, 77 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) CATGACCTTGGGAGTGACAGC 0.488 6 78 --- --- --- --- PASS OR4D11 219986 broad.mit.edu 37 11 59271511 59271511 + Missense_Mutation SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr11:59271511C>T uc001noa.1 + 1 463 c.463C>T c.(463-465)CAC>TAC p.H155Y NM_001004706 NP_001004706 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, 155 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GGGCTTTGTCCACTCCATCGT 0.547 30 61 --- --- --- --- PASS MS4A6E 245802 broad.mit.edu 37 11 60102454 60102454 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr11:60102454C>A uc001npd.2 + 1 100 c.86C>A c.(85-87)CCC>CAC p.P29H NM_139249 NP_640342 Q96DS6 M4A6E_HUMAN membrane-spanning 4-domains, subfamily A, member 29 Cytoplasmic (Potential). integral to membrane receptor activity 0 AAACCCGAACCCACCAACCAG 0.453 9 86 --- --- --- --- PASS PRPF19 27339 broad.mit.edu 37 11 60665636 60665636 + Silent SNP G C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr11:60665636G>C uc001nqf.2 - 14 1455 c.1248C>G c.(1246-1248)GTC>GTG p.V416V NM_014502 NP_055317 Q9UMS4 PRP19_HUMAN PRP19/PSO4 pre-mRNA processing factor 19 416 WD 5. DNA repair|protein polyubiquitination|spliceosome assembly catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity ovary(1) 1 CCCAGAGCTTGACAGAGGAGT 0.532 12 43 --- --- --- --- PASS C11orf10 746 broad.mit.edu 37 11 61557389 61557389 + Nonsense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr11:61557389C>A uc001nsf.2 - 3 173 c.118G>T c.(118-120)GAG>TAG p.E40* FEN1_uc001nsg.2_5'Flank NM_014206 NP_055021 P61165 CK010_HUMAN hypothetical protein LOC746 40 integral to membrane breast(1) 1 GAGGTGACCTCGTAACTGGGC 0.527 4 36 --- --- --- --- PASS MTA2 9219 broad.mit.edu 37 11 62361826 62361826 + Silent SNP C G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr11:62361826C>G uc001ntq.1 - 17 2127 c.1746G>C c.(1744-1746)GGG>GGC p.G582G TUT1_uc001nto.2_5'Flank|MTA2_uc010rlx.1_Silent_p.G409G NM_004739 NP_004730 O94776 MTA2_HUMAN metastasis-associated protein 2 582 chromatin assembly or disassembly NuRD complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 TTGAACGAATCCCTGAAGCCA 0.552 5 49 --- --- --- --- PASS PYGM 5837 broad.mit.edu 37 11 64521495 64521495 + Silent SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr11:64521495C>A uc001oax.3 - 10 1912 c.1095G>T c.(1093-1095)GCG>GCT p.A365A PYGM_uc001oay.3_Silent_p.A277A NM_005609 NP_005600 P11217 PYGM_HUMAN muscle glycogen phosphorylase isoform 1 365 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding ovary(2) 2 Pyridoxal Phosphate(DB00114) TCACATCCCACGCCTGGCACA 0.672 4 4 --- --- --- --- PASS TIGD3 220359 broad.mit.edu 37 11 65123451 65123451 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr11:65123451G>T uc001odo.3 + 2 335 c.172G>T c.(172-174)GAC>TAC p.D58Y NM_145719 NP_663771 Q6B0B8 TIGD3_HUMAN tigger transposable element derived 3 58 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 GCTGCTGGCGGACTGGTGCAG 0.627 13 69 --- --- --- --- PASS MALAT1 378938 broad.mit.edu 37 11 65266496 65266496 + RNA SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr11:65266496C>T uc010roh.1 + 1 c.1264C>T NR_002819 Homo sapiens clone alpha1 mRNA sequence. 0 TATAAATACGCCTCGCCCGAG 0.537 32 87 --- --- --- --- PASS RELA 5970 broad.mit.edu 37 11 65422461 65422461 + Silent SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr11:65422461G>T uc001ofg.2 - 11 1184 c.1044C>A c.(1042-1044)CCC>CCA p.P348P RELA_uc001ofh.2_Silent_p.P345P|RELA_uc010ron.1_Silent_p.P359P|RELA_uc009yqr.2_Silent_p.P295P|RELA_uc001ofe.2_3'UTR|RELA_uc001off.2_Silent_p.P348P NM_021975 NP_068810 Q04206 TF65_HUMAN v-rel reticuloendotheliosis viral oncogene 348 anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|transcription factor complex activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding lung(3)|ovary(1) 4 TAAAGGGATAGGGCTGGGGTG 0.512 4 5 --- --- --- --- PASS CTSF 8722 broad.mit.edu 37 11 66333159 66333159 + Nonsense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr11:66333159G>T uc001oip.2 - 8 1118 c.1028C>A c.(1027-1029)TCG>TAG p.S343* NM_003793 NP_003784 Q9UBX1 CATF_HUMAN cathepsin F precursor 343 proteolysis lysosome cysteine-type endopeptidase activity 0 CTTTATGGCCGAGTAGGCATT 0.542 6 118 --- --- --- --- PASS LRP5 4041 broad.mit.edu 37 11 68190986 68190986 + Silent SNP C G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr11:68190986C>G uc001ont.2 + 14 3132 c.3057C>G c.(3055-3057)GGC>GGG p.G1019G LRP5_uc009ysg.2_Silent_p.G429G NM_002335 NP_002326 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 1019 Beta-propeller 4.|LDL-receptor class B 16.|Extracellular (Potential). adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1) 7 TGAGCCAAGGCCAAAACCCAG 0.587 20 76 --- --- --- --- PASS C2CD3 26005 broad.mit.edu 37 11 73834143 73834143 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr11:73834143C>A uc001ouu.2 - 8 1482 c.1255G>T c.(1255-1257)GGC>TGC p.G419C C2CD3_uc001ouv.2_Missense_Mutation_p.G419C NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 419 centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) GGAGGAGAGCCTAGCCCATCC 0.423 12 12 --- --- --- --- PASS ODZ4 26011 broad.mit.edu 37 11 78413354 78413354 + Missense_Mutation SNP T C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr11:78413354T>C uc001ozl.3 - 28 4767 c.4304A>G c.(4303-4305)AAC>AGC p.N1435S ODZ4_uc009yvb.1_Missense_Mutation_p.N19S NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 1435 Extracellular (Potential).|NHL 4. signal transduction integral to membrane ovary(2)|pancreas(2) 4 CACCTGGTGGTTTTCAGAGAT 0.557 25 35 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92085865 92085865 + Missense_Mutation SNP A T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr11:92085865A>T uc001pdj.3 + 1 604 c.587A>T c.(586-588)TAC>TTC p.Y196F NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 196 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TTCTACTACTACTTTAAAAAT 0.398 TCGA Ovarian(4;0.039) 17 39 --- --- --- --- PASS CARD18 59082 broad.mit.edu 37 11 105009762 105009762 + Silent SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr11:105009762C>A uc001pis.2 - 1 51 c.45G>T c.(43-45)GTG>GTT p.V15V NM_021571 NP_067546 P57730 CAR18_HUMAN ICEBERG caspase-1 inhibitor 17 CARD. inflammatory response|regulation of apoptosis intracellular cysteine-type endopeptidase inhibitor activity ovary(1)|central_nervous_system(1) 2 TGCCTGCACCCACTGAATGGA 0.388 17 21 --- --- --- --- PASS NCAM1 4684 broad.mit.edu 37 11 113078556 113078556 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr11:113078556G>T uc009yyq.1 + 7 1088 c.394G>T c.(394-396)GAT>TAT p.D132Y NCAM1_uc001pno.2_Missense_Mutation_p.D132Y NM_001076682 NP_001070150 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 isoform 3 250 Ig-like C2-type 3.|Extracellular (Potential). axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane ovary(1) 1 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) ATGCTCTAGGGATGGGGAACA 0.428 8 32 --- --- --- --- PASS OR8B12 219858 broad.mit.edu 37 11 124413497 124413497 + Missense_Mutation SNP G C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr11:124413497G>C uc010sam.1 - 1 54 c.54C>G c.(52-54)CAC>CAG p.H18Q NM_001005195 NP_001005195 Q8NGG6 OR8BC_HUMAN olfactory receptor, family 8, subfamily B, 18 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|skin(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213) GTCCCGGCTGGTGGGTTAAGC 0.542 3 29 --- --- --- --- PASS PANX3 116337 broad.mit.edu 37 11 124487218 124487218 + Missense_Mutation SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr11:124487218G>A uc001qah.2 + 3 373 c.373G>A c.(373-375)GTG>ATG p.V125M NM_052959 NP_443191 Q96QZ0 PANX3_HUMAN pannexin 3 125 Helical; (Potential). protein hexamerization gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity 0 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219) GTACCTGCCGGTGCTGCTGTG 0.627 4 7 --- --- --- --- PASS ST3GAL4 6484 broad.mit.edu 37 11 126279302 126279302 + Missense_Mutation SNP A C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr11:126279302A>C uc001qds.2 + 9 986 c.767A>C c.(766-768)AAG>ACG p.K256T ST3GAL4_uc001qdt.2_Missense_Mutation_p.K252T|ST3GAL4_uc009zcc.2_Missense_Mutation_p.K92T|ST3GAL4_uc009zcd.2_Missense_Mutation_p.K245T|ST3GAL4_uc001qdu.2_Missense_Mutation_p.K252T|ST3GAL4_uc001qdv.2_Missense_Mutation_p.K256T|ST3GAL4_uc009zce.2_Missense_Mutation_p.K252T|ST3GAL4_uc001qdw.2_Missense_Mutation_p.K245T|ST3GAL4_uc001qdx.1_Missense_Mutation_p.K213T|ST3GAL4_uc001qdy.2_Missense_Mutation_p.K92T|ST3GAL4_uc001qdz.2_Missense_Mutation_p.K92T NM_006278 NP_006269 Q11206 SIA4C_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 256 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity 0 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767) CGGAAGATTAAGCAGGTGATG 0.517 38 51 --- --- --- --- PASS PARP11 57097 broad.mit.edu 37 12 3921356 3921356 + Missense_Mutation SNP T A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr12:3921356T>A uc001qmk.1 - 7 984 c.929A>T c.(928-930)AAC>ATC p.N310I PARP11_uc001qml.2_Missense_Mutation_p.N317I|PARP11_uc009zef.2_RNA|PARP11_uc001qmm.2_Missense_Mutation_p.N236I|PARP11_uc001qmn.2_Missense_Mutation_p.N236I NM_020367 NP_065100 Q9NR21 PAR11_HUMAN poly (ADP-ribose) polymerase family, member 11 310 PARP catalytic. NAD+ ADP-ribosyltransferase activity ovary(1)|central_nervous_system(1) 2 all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264) GATCTTTGGGTTCCAGGTATC 0.413 11 84 --- --- --- --- PASS AKAP3 10566 broad.mit.edu 37 12 4737745 4737745 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr12:4737745C>A uc001qnb.3 - 4 552 c.323G>T c.(322-324)TGC>TTC p.C108F NM_006422 NP_006413 O75969 AKAP3_HUMAN A-kinase anchor protein 3 108 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding skin(3)|large_intestine(1)|ovary(1)|kidney(1) 6 GGGGCCCTGGCAAGGAATCTC 0.498 16 28 --- --- --- --- PASS VWF 7450 broad.mit.edu 37 12 6125817 6125817 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr12:6125817G>T uc001qnn.1 - 30 5426 c.5176C>A c.(5176-5178)CGT>AGT p.R1726S VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 1726 VWFA 3; main binding site for collagens type I and III. 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) TGAGTGAGACGAGGCCCTAAA 0.527 4 72 --- --- --- --- PASS NOP2 4839 broad.mit.edu 37 12 6675952 6675952 + Missense_Mutation SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr12:6675952G>A uc001qpk.1 - 2 184 c.140C>T c.(139-141)GCT>GTT p.A47V NOP2_uc001qph.1_Missense_Mutation_p.A47V|NOP2_uc001qpi.1_Missense_Mutation_p.A47V|NOP2_uc001qpj.1_Intron|NOP2_uc001qpl.1_Missense_Mutation_p.A47V|NOP2_uc001qpm.1_Missense_Mutation_p.A47V P46087 NOP2_HUMAN Homo sapiens cDNA FLJ31646 fis, clone NT2RI2003921, highly similar to PROLIFERATING-CELL NUCLEOLAR ANTIGEN P120. 47 positive regulation of cell proliferation|rRNA processing nucleolus protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity ovary(2) 2 CCTCTTTCGAGCACGACTAGA 0.393 4 10 --- --- --- --- PASS A2ML1 144568 broad.mit.edu 37 12 8995787 8995787 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr12:8995787C>A uc001quz.3 + 12 1404 c.1306C>A c.(1306-1308)CAA>AAA p.Q436K A2ML1_uc001qva.1_Missense_Mutation_p.Q16K|A2ML1_uc010sgm.1_5'Flank NM_144670 NP_653271 A8K2U0 A2ML1_HUMAN alpha-2-macroglobulin-like 1 precursor 280 extracellular space endopeptidase inhibitor activity ovary(2)|skin(1) 3 ACGTTACTACCAAAATGCCTA 0.488 7 127 --- --- --- --- PASS TAS2R20 259295 broad.mit.edu 37 12 11149889 11149889 + Silent SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr12:11149889G>A uc001qzm.2 - 1 586 c.586C>T c.(586-588)CTG>TTG p.L196L PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_176889 NP_795370 P59543 T2R20_HUMAN taste receptor, type 2, member 20 196 Helical; Name=5; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity 0 ATTAACAGCAGAAAAGATATC 0.428 39 86 --- --- --- --- PASS SLCO1C1 53919 broad.mit.edu 37 12 20858882 20858882 + Splice_Site SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr12:20858882G>A uc001rej.3 + 5 627 c.272_splice c.e5-1 p.G91_splice SLCO1C1_uc010sii.1_Splice_Site_p.G91_splice|SLCO1C1_uc010sij.1_Splice_Site_p.G91_splice|SLCO1C1_uc009zip.2_Intron|SLCO1C1_uc001rei.2_Splice_Site_p.G91_splice|SLCO1C1_uc010sik.1_Splice_Site NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(5)|pancreas(1)|skin(1) 7 Esophageal squamous(101;0.149) TTTCCTCAAAGGGAATCTCTT 0.353 13 27 --- --- --- --- PASS C12orf35 55196 broad.mit.edu 37 12 32135211 32135211 + Missense_Mutation SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr12:32135211C>T uc001rks.2 + 4 1736 c.1322C>T c.(1321-1323)TCT>TTT p.S441F NM_018169 NP_060639 Q9HCM1 CL035_HUMAN hypothetical protein LOC55196 441 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) GCTCAGAATTCTAAATTGTCT 0.368 22 104 --- --- --- --- PASS PRPH 5630 broad.mit.edu 37 12 49691303 49691303 + Missense_Mutation SNP T C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr12:49691303T>C uc001rtu.2 + 6 1235 c.1160T>C c.(1159-1161)ATG>ACG p.M387T NM_006262 NP_006253 P41219 PERI_HUMAN peripherin 387 Coil 2.|Rod. structural molecule activity 0 AACGTCAAGATGGCCCTGGAC 0.567 OREG0021790 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 24 --- --- --- --- PASS RDH16 8608 broad.mit.edu 37 12 57348829 57348829 + Missense_Mutation SNP T A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr12:57348829T>A uc001smi.3 - 2 605 c.433A>T c.(433-435)ACT>TCT p.T145S RDH16_uc009zpa.2_Intron NM_003708 NP_003699 O75452 RDH16_HUMAN retinol dehydrogenase 16 145 Cytoplasmic (Potential). lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome binding|electron carrier activity|retinol dehydrogenase activity 0 AGGCTCAGAGTCACATCAATC 0.567 10 49 --- --- --- --- PASS KIF5A 3798 broad.mit.edu 37 12 57974946 57974946 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr12:57974946G>T uc001sor.1 + 24 2954 c.2746G>T c.(2746-2748)GCC>TCC p.A916S KIF5A_uc010srr.1_Missense_Mutation_p.A827S NM_004984 NP_004975 Q12840 KIF5A_HUMAN kinesin family member 5A 916 Globular. blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity ovary(2)|skin(1) 3 GGGCCATTCTGCCCAGATTGG 0.527 6 17 --- --- --- --- PASS ZFC3H1 196441 broad.mit.edu 37 12 72029243 72029243 + Missense_Mutation SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr12:72029243C>T uc001swo.2 - 10 2577 c.2218G>A c.(2218-2220)GAA>AAA p.E740K NM_144982 NP_659419 O60293 ZC3H1_HUMAN proline/serine-rich coiled-coil 2 740 RNA processing intracellular metal ion binding ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 CGTCTTGCTTCTTTAATCATG 0.348 7 33 --- --- --- --- PASS TMEM19 55266 broad.mit.edu 37 12 72092834 72092834 + Silent SNP T C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr12:72092834T>C uc001sws.2 + 5 1375 c.792T>C c.(790-792)GCT>GCC p.A264A TMEM19_uc001swr.1_Silent_p.A250A|TMEM19_uc009zru.1_RNA NM_018279 NP_060749 Q96HH6 TMM19_HUMAN transmembrane protein 19 264 Helical; (Potential). integral to membrane 0 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) GTGGTTTAGCTGGATTACTAG 0.403 18 49 --- --- --- --- PASS OAS1 4938 broad.mit.edu 37 12 113346549 113346549 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr12:113346549G>T uc001tud.2 + 2 495 c.389G>T c.(388-390)CGT>CTT p.R130L OAS1_uc010syn.1_Missense_Mutation_p.R129L|OAS1_uc010syo.1_Missense_Mutation_p.R129L|OAS1_uc001tub.2_Missense_Mutation_p.R130L|OAS1_uc001tuc.2_Missense_Mutation_p.R130L|OAS1_uc009zwf.2_Missense_Mutation_p.R129L NM_016816 NP_058132 P00973 OAS1_HUMAN 2',5'-oligoadenylate synthetase 1 isoform 1 130 Necessary for binding to dsRNA. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding ovary(2) 2 GGCAACCCCCGTGCGCTCAGC 0.577 21 28 --- --- --- --- PASS OASL 8638 broad.mit.edu 37 12 121471503 121471503 + Missense_Mutation SNP T G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr12:121471503T>G uc001tzj.1 - 2 248 c.242A>C c.(241-243)GAG>GCG p.E81A OASL_uc001tzk.1_Missense_Mutation_p.E81A NM_003733 NP_003724 Q15646 OASL_HUMAN 2'-5'-oligoadenylate synthetase-like isoform a 81 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway cytoplasm|nucleolus ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity skin(1) 1 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CAGCTCCACCTCTCTGGTGCT 0.478 21 103 --- --- --- --- PASS SBNO1 55206 broad.mit.edu 37 12 123818603 123818603 + Silent SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr12:123818603G>T uc010tap.1 - 6 906 c.906C>A c.(904-906)GCC>GCA p.A302A SBNO1_uc010tao.1_Silent_p.A301A|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Silent_p.A302A|SBNO1_uc001ueu.2_Silent_p.A301A|SBNO1_uc001uev.2_Silent_p.A300A|SBNO1_uc009zxy.1_Silent_p.A267A NM_018183 NP_060653 A3KN83 SBNO1_HUMAN sno, strawberry notch homolog 1 302 ATP binding|DNA binding|hydrolase activity breast(5)|skin(2)|ovary(1)|kidney(1) 9 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) TGCTTACCTGGGCTGCATATG 0.333 4 20 --- --- --- --- PASS SFRS8 6433 broad.mit.edu 37 12 132262629 132262629 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr12:132262629G>T uc001uja.1 + 14 2302 c.2162G>T c.(2161-2163)TGC>TTC p.C721F SFRS8_uc010tbn.1_Missense_Mutation_p.C721F|SFRS8_uc001ujb.1_Missense_Mutation_p.C514F NM_004592 NP_004583 Q12872 SFSWA_HUMAN splicing factor, arginine/serine-rich 8 721 mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05) ACTACGCCCTGCCCTCTACTG 0.433 7 33 --- --- --- --- PASS POLE 5426 broad.mit.edu 37 12 133209281 133209281 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr12:133209281C>A uc001uks.1 - 44 6149 c.6105G>T c.(6103-6105)CAG>CAT p.Q2035H POLE_uc001ukq.1_Missense_Mutation_p.Q245H|POLE_uc001ukr.1_Missense_Mutation_p.Q839H|POLE_uc010tbq.1_RNA NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon 2035 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) CCTCGGCCTCCTGGGAGAGCT 0.652 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 4 14 --- --- --- --- PASS IFT88 8100 broad.mit.edu 37 13 21172829 21172829 + Missense_Mutation SNP A G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr13:21172829A>G uc001unh.2 + 12 1057 c.661A>G c.(661-663)ATG>GTG p.M221V IFT88_uc001uni.2_Missense_Mutation_p.M212V|IFT88_uc001unj.2_Missense_Mutation_p.M211V|IFT88_uc010tcq.1_Missense_Mutation_p.M192V|IFT88_uc001unk.2_Missense_Mutation_p.M1V NM_175605 NP_783195 Q13099 IFT88_HUMAN intraflagellar transport 88 homolog isoform 1 221 TPR 1. cilium morphogenesis centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum protein binding ovary(1) 1 all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244) all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528) AGTTAATGAAATGTATGCCGA 0.323 18 37 --- --- --- --- PASS SACS 26278 broad.mit.edu 37 13 23909099 23909099 + Silent SNP T A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr13:23909099T>A uc001uon.2 - 10 9505 c.8916A>T c.(8914-8916)CCA>CCT p.P2972P SACS_uc001uoo.2_Silent_p.P2825P|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 2972 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AATATAAATCTGGCTGTAGAT 0.378 14 34 --- --- --- --- PASS C1QTNF9 338872 broad.mit.edu 37 13 24895767 24895767 + Missense_Mutation SNP C G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr13:24895767C>G uc001upj.2 + 4 924 c.863C>G c.(862-864)TCT>TGT p.S288C C1QTNF9_uc001upe.2_RNA NM_178540 NP_848635 P0C862 C1T9A_HUMAN C1q and tumor necrosis factor related protein 9 288 C1q. collagen hormone activity 0 all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159) GACCAGGCCTCTGGCGGCATT 0.498 18 103 --- --- --- --- PASS SLC7A1 6541 broad.mit.edu 37 13 30096468 30096468 + Nonsense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr13:30096468G>T uc001uso.2 - 8 1562 c.1175C>A c.(1174-1176)TCG>TAG p.S392* NM_003045 NP_003036 P30825 CTR1_HUMAN solute carrier family 7 (cationic amino acid 392 Helical; (Potential). cellular nitrogen compound metabolic process|ion transport integral to plasma membrane receptor activity 0 Lung SC(185;0.0257)|Breast(139;0.238) all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) AACGGCACCCGAGGCTAATGT 0.458 6 174 --- --- --- --- PASS SLC7A1 6541 broad.mit.edu 37 13 30096527 30096527 + Missense_Mutation SNP A C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr13:30096527A>C uc001uso.2 - 8 1503 c.1116T>G c.(1114-1116)TTT>TTG p.F372L NM_003045 NP_003036 P30825 CTR1_HUMAN solute carrier family 7 (cationic amino acid 372 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|ion transport integral to plasma membrane receptor activity 0 Lung SC(185;0.0257)|Breast(139;0.238) all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) CTAAGAATTTAAATAGCAGTC 0.483 26 110 --- --- --- --- PASS COL4A2 1284 broad.mit.edu 37 13 111111228 111111228 + Missense_Mutation SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr13:111111228G>A uc001vqx.2 + 22 1832 c.1543G>A c.(1543-1545)GGG>AGG p.G515R NM_001846 NP_001837 P08572 CO4A2_HUMAN alpha 2 type IV collagen preproprotein 515 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding skin(3)|central_nervous_system(2)|ovary(1) 6 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GGGGAGGAAAGGGGACAGAGG 0.602 6 16 --- --- --- --- PASS OR4N2 390429 broad.mit.edu 37 14 20296014 20296014 + Missense_Mutation SNP T A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr14:20296014T>A uc010tkv.1 + 1 407 c.407T>A c.(406-408)ATG>AAG p.M136K NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, 136 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CCTACTGTCATGAACCCTAGA 0.522 31 150 --- --- --- --- PASS EFS 10278 broad.mit.edu 37 14 23828827 23828827 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr14:23828827C>A uc001wjo.2 - 4 1468 c.860G>T c.(859-861)AGC>ATC p.S287I EFS_uc001wjp.2_Missense_Mutation_p.S194I|EFS_uc010tnm.1_Missense_Mutation_p.S118I NM_005864 NP_005855 O43281 EFS_HUMAN embryonal Fyn-associated substrate isoform 1 287 Pro-rich. cell adhesion|intracellular signal transduction cytoplasm SH3 domain binding large_intestine(1) 1 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) GGGTGGGGGGCTTCTGGCCAG 0.721 3 11 --- --- --- --- PASS NFATC4 4776 broad.mit.edu 37 14 24842950 24842950 + Silent SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr14:24842950C>A uc001wpc.2 + 5 1930 c.1609C>A c.(1609-1611)CGG>AGG p.R537R NFATC4_uc010tok.1_Silent_p.R600R|NFATC4_uc010tol.1_Silent_p.R600R|NFATC4_uc010alr.2_Silent_p.R600R|NFATC4_uc010als.2_Silent_p.R550R|NFATC4_uc010tom.1_Silent_p.R550R|NFATC4_uc010ton.1_Silent_p.R550R|NFATC4_uc010too.1_Silent_p.R550R|NFATC4_uc010alt.2_Silent_p.R569R|NFATC4_uc010top.1_Silent_p.R569R|NFATC4_uc010toq.1_Silent_p.R569R|NFATC4_uc010alu.2_Silent_p.R229R|NFATC4_uc010tor.1_Silent_p.R537R|NFATC4_uc010tos.1_Silent_p.R467R|NFATC4_uc010tot.1_Silent_p.R525R|NFATC4_uc010tou.1_Silent_p.R467R|NFATC4_uc010tov.1_Silent_p.R525R|NFATC4_uc010tow.1_Silent_p.R467R|NFATC4_uc010alv.2_Silent_p.R525R|NFATC4_uc010tox.1_Silent_p.R467R|NFATC4_uc001wpd.2_Silent_p.R72R|NFATC4_uc010toy.1_Silent_p.R72R|NFATC4_uc010toz.1_Silent_p.R72R|NFATC4_uc010tpa.1_5'UTR|NFATC4_uc010tpb.1_5'UTR NM_004554 NP_004545 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, 537 RHD. cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(265;0.018) CATTGAGCTTCGGAAGGGTGA 0.582 6 159 --- --- --- --- PASS AKAP6 9472 broad.mit.edu 37 14 33291678 33291678 + Missense_Mutation SNP G C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr14:33291678G>C uc001wrq.2 + 13 4829 c.4659G>C c.(4657-4659)ATG>ATC p.M1553I NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 1553 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) TCACTGGCATGCAGAATGCCA 0.403 26 76 --- --- --- --- PASS EAPP 55837 broad.mit.edu 37 14 35002668 35002668 + Nonsense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr14:35002668C>A uc001wsd.1 - 3 443 c.334G>T c.(334-336)GAG>TAG p.E112* NM_018453 NP_060923 Q56P03 EAPP_HUMAN E2F-associated phosphoprotein 112 negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter Golgi apparatus|nucleus|plasma membrane ovary(1) 1 Breast(36;0.0473)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18) GBM - Glioblastoma multiforme(112;0.0196) TCTTCATCCTCGGAATCAGAA 0.348 5 78 --- --- --- --- PASS BAZ1A 11177 broad.mit.edu 37 14 35240766 35240766 + Silent SNP G C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr14:35240766G>C uc001wsk.2 - 21 3820 c.3252C>G c.(3250-3252)CTC>CTG p.L1084L BAZ1A_uc001wsl.2_Silent_p.L1052L NM_013448 NP_038476 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 1084 chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1) 7 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) CTATTTGAAAGAGTGCCATTG 0.373 70 110 --- --- --- --- PASS DLGAP5 9787 broad.mit.edu 37 14 55621479 55621479 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr14:55621479G>T uc001xbs.2 - 15 2136 c.1919C>A c.(1918-1920)CCT>CAT p.P640H DLGAP5_uc001xbt.2_Missense_Mutation_p.P640H NM_014750 NP_055565 Q15398 DLGP5_HUMAN discs large homolog 7 isoform a 640 cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition nucleus|spindle pole centrosome phosphoprotein phosphatase activity|protein binding ovary(1)|skin(1) 2 GACAGACTTAGGTGTTCCAAG 0.398 6 77 --- --- --- --- PASS ZBTB1 22890 broad.mit.edu 37 14 64989724 64989724 + Missense_Mutation SNP G C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr14:64989724G>C uc001xhh.3 + 4 1933 c.1502G>C c.(1501-1503)AGA>ACA p.R501T ZBTB1_uc010aqg.2_Missense_Mutation_p.R501T|ZBTB1_uc001xhi.2_Missense_Mutation_p.R501T NM_001123329 NP_001116801 Q9Y2K1 ZBTB1_HUMAN zinc finger and BTB domain containing 1 isoform 501 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294) UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012) TCCGAAATAAGAGATATGTTT 0.398 33 43 --- --- --- --- PASS FAM71D 161142 broad.mit.edu 37 14 67664902 67664902 + Silent SNP T C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr14:67664902T>C uc001xja.1 + 3 278 c.24T>C c.(22-24)ACT>ACC p.T8T FAM71D_uc010tsv.1_RNA|FAM71D_uc001xiz.2_RNA|FAM71D_uc010aqn.1_RNA NM_173526 NP_775797 Q8N9W8 FA71D_HUMAN hypothetical protein LOC161142 8 ovary(1) 1 all_hematologic(31;0.0116) all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012) CCAGCAAGACTACCATGAGGA 0.408 91 84 --- --- --- --- PASS PLEK2 26499 broad.mit.edu 37 14 67859957 67859957 + Missense_Mutation SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr14:67859957G>A uc001xjh.1 - 4 443 c.391C>T c.(391-393)CGC>TGC p.R131C NM_016445 NP_057529 Q9NYT0 PLEK2_HUMAN pleckstrin 2 131 actin cytoskeleton organization|intracellular signal transduction cytoplasm|cytoskeleton|lamellipodium membrane ovary(1)|pancreas(1) 2 all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953) TCCACAATGCGACTACATGGA 0.527 18 104 --- --- --- --- PASS RDH11 51109 broad.mit.edu 37 14 68151842 68151842 + Nonsense_Mutation SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr14:68151842C>T uc001xjv.3 - 6 834 c.744G>A c.(742-744)TGG>TGA p.W248* RDH11_uc001xjw.3_Nonsense_Mutation_p.W235*|RDH11_uc001xjx.3_Nonsense_Mutation_p.W178* NM_016026 NP_057110 Q8TC12 RDH11_HUMAN retinol dehydrogenase 11 248 Cytoplasmic (Potential). retinol metabolic process|steroid metabolic process endoplasmic reticulum membrane|integral to membrane binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity ovary(1) 1 all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924) Vitamin A(DB00162) GCCACCACATCCATCTCATGA 0.517 37 39 --- --- --- --- PASS FLRT2 23768 broad.mit.edu 37 14 86089506 86089506 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr14:86089506G>T uc001xvr.2 + 2 2415 c.1648G>T c.(1648-1650)GCG>TCG p.A550S FLRT2_uc010atd.2_Missense_Mutation_p.A550S NM_013231 NP_037363 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 550 Helical; (Potential). cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity ovary(3)|haematopoietic_and_lymphoid_tissue(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.0319) GATCGGGGGCGCGGTGATATT 0.587 38 69 --- --- --- --- PASS TRIP11 9321 broad.mit.edu 37 14 92439105 92439105 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr14:92439105G>T uc001xzy.2 - 20 6463 c.5675C>A c.(5674-5676)CCA>CAA p.P1892Q TRIP11_uc010auf.1_Missense_Mutation_p.P1628Q NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1892 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) TCTTCTTCCTGGTGAATCCAG 0.299 T PDGFRB AML 8 251 --- --- --- --- PASS FAM181A 90050 broad.mit.edu 37 14 94395040 94395040 + Missense_Mutation SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr14:94395040G>A uc001ybz.1 + 3 902 c.595G>A c.(595-597)GCT>ACT p.A199T C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Missense_Mutation_p.A137T|FAM181A_uc001yca.1_Missense_Mutation_p.A137T NM_138344 NP_612353 Q8N9Y4 F181A_HUMAN hypothetical protein LOC90050 199 0 ACAGCTGCCCGCTTCCTTCTG 0.612 6 22 --- --- --- --- PASS CYP46A1 10858 broad.mit.edu 37 14 100157448 100157448 + Nonsense_Mutation SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr14:100157448G>A uc001ygo.2 + 2 150 c.150G>A c.(148-150)TGG>TGA p.W50* CYP46A1_uc001ygn.1_5'UTR NM_006668 NP_006659 Q9Y6A2 CP46A_HUMAN cytochrome P450, family 46 50 bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity 0 Melanoma(154;0.0866)|all_epithelial(191;0.179) CCTGCTTTTGGAAAAAGGATG 0.493 16 84 --- --- --- --- PASS DYNC1H1 1778 broad.mit.edu 37 14 102489101 102489101 + Nonsense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr14:102489101G>T uc001yks.2 + 43 8685 c.8521G>T c.(8521-8523)GAG>TAG p.E2841* DYNC1H1_uc001ykt.1_Nonsense_Mutation_p.E332* NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 2841 cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 CGTAGAGGATGAGGAGAGGCG 0.527 6 131 --- --- --- --- PASS TRAF3 7187 broad.mit.edu 37 14 103336547 103336547 + Silent SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr14:103336547G>T uc001ymc.1 + 3 362 c.9G>T c.(7-9)TCG>TCT p.S3S TRAF3_uc001yme.1_Silent_p.S3S|TRAF3_uc001ymd.1_Silent_p.S3S|TRAF3_uc010txy.1_Silent_p.S3S NM_145725 NP_663777 Q13114 TRAF3_HUMAN TNF receptor-associated factor 3 isoform 1 3 apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 all_cancers(154;7.87e-06)|all_epithelial(191;0.0024) Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971) AAATGGAGTCGAGTAAAAAGA 0.493 6 150 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105414569 105414569 + Missense_Mutation SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr14:105414569G>A uc010axc.1 - 7 7339 c.7219C>T c.(7219-7221)CCC>TCC p.P2407S AHNAK2_uc001ypx.2_Missense_Mutation_p.P2307S NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2407 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) TTGAAACTGGGCATCTGCAGC 0.622 17 286 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105418571 105418571 + Nonsense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr14:105418571C>A uc010axc.1 - 7 3337 c.3217G>T c.(3217-3219)GAG>TAG p.E1073* AHNAK2_uc001ypx.2_Nonsense_Mutation_p.E973* NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1073 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) CCAGCTCCCTCGGGCAGGTGG 0.617 7 200 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106573252 106573252 + RNA SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr14:106573252G>A uc010tyt.1 - 1362 c.29273C>T Parts of antibodies, mostly variable regions. 0 GTAATACACGGCCGTGTCCTC 0.587 12 319 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 15 20649655 20649655 + Silent SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr15:20649655G>T uc001ytg.2 - 18 2563 c.1854C>A c.(1852-1854)GGC>GGA p.G618G uc010tyx.1_RNA|uc001yth.3_Silent_p.G618G|uc010tyy.1_Silent_p.G618G RecName: Full=Putative HERC2-like protein 3; CTCGGCCTAGGCCTGGAGGAG 0.557 21 201 --- --- --- --- PASS OR4N4 283694 broad.mit.edu 37 15 22382947 22382947 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr15:22382947C>A uc001yuc.1 + 7 1456 c.475C>A c.(475-477)CAG>AAG p.Q159K LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Missense_Mutation_p.Q159K NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, 159 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CTCCATTATCCAGGTGGTCCT 0.532 5 89 --- --- --- --- PASS MAGEL2 54551 broad.mit.edu 37 15 23889861 23889861 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr15:23889861G>T uc001ywj.3 - 1 1315 c.1220C>A c.(1219-1221)TCC>TAC p.S407Y 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) CTCCACCTTGGAATTATCCTG 0.587 7 24 --- --- --- --- PASS GABRB3 2562 broad.mit.edu 37 15 26806138 26806138 + Missense_Mutation SNP T C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr15:26806138T>C uc001zaz.2 - 8 1163 c.1021A>G c.(1021-1023)AAG>GAG p.K341E GABRB3_uc010uae.1_Missense_Mutation_p.K256E|GABRB3_uc001zba.2_Missense_Mutation_p.K341E|GABRB3_uc001zbb.2_Missense_Mutation_p.K397E NM_000814 NP_000805 P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 341 Cytoplasmic (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1) 5 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TCTGCAAGCTTCTTCTGCCTT 0.517 26 66 --- --- --- --- PASS HERC2 8924 broad.mit.edu 37 15 28370265 28370265 + Silent SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr15:28370265G>T uc001zbj.2 - 84 12983 c.12877C>A c.(12877-12879)CGG>AGG p.R4293R NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 4293 RCC1 19. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GCTACCAACCGAGGCCTCTGG 0.552 5 151 --- --- --- --- PASS CASC4 113201 broad.mit.edu 37 15 44695177 44695177 + Missense_Mutation SNP T A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr15:44695177T>A uc001zto.1 + 9 1464 c.1165T>A c.(1165-1167)TAT>AAT p.Y389N CASC4_uc001ztp.2_Missense_Mutation_p.Y389N|CASC4_uc001ztq.2_Intron NM_138423 NP_612432 Q6P4E1 CASC4_HUMAN cancer susceptibility candidate 4 isoform a 389 Lumenal (Potential). integral to membrane ovary(1) 1 all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027) all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237) CGTAGGTGAGTATGAGGCAGA 0.517 15 38 --- --- --- --- PASS GLDN 342035 broad.mit.edu 37 15 51696617 51696617 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr15:51696617G>T uc002aba.2 + 10 1491 c.1322G>T c.(1321-1323)AGT>ATT p.S441I GLDN_uc002abb.2_Missense_Mutation_p.S317I NM_181789 NP_861454 Q6ZMI3 GLDN_HUMAN gliomedin 441 Extracellular (Potential).|Olfactomedin-like. cell differentiation|nervous system development collagen|integral to membrane|plasma membrane ovary(2) 2 all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942) TATGCGTCAAGTGTGGACGGC 0.428 24 108 --- --- --- --- PASS GCNT3 9245 broad.mit.edu 37 15 59910702 59910702 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr15:59910702C>A uc002age.2 + 3 714 c.265C>A c.(265-267)CTG>ATG p.L89M GCNT3_uc002agd.2_Missense_Mutation_p.L89M NM_004751 NP_004742 O95395 GCNT3_HUMAN glucosaminyl (N-acetyl) transferase 3, mucin 89 Lumenal (Potential). protein O-linked glycosylation Golgi membrane|integral to membrane|membrane fraction beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity ovary(1)|central_nervous_system(1) 2 TCTGAATAACCTGGAGGTCAA 0.488 22 53 --- --- --- --- PASS KIAA0101 9768 broad.mit.edu 37 15 64669065 64669065 + Missense_Mutation SNP C G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr15:64669065C>G uc002ank.2 - 3 299 c.167G>C c.(166-168)CGC>CCC p.R56P KIAA0101_uc002anl.2_Intron NM_014736 NP_055551 Q15004 PAF_HUMAN hypothetical protein LOC9768 isoform 1 56 mitochondrion|nucleus central_nervous_system(1) 1 GGGAGTTGGGCGCACGCAAAC 0.393 9 26 --- --- --- --- PASS HEXA 3073 broad.mit.edu 37 15 72668061 72668061 + Missense_Mutation SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr15:72668061C>T uc002aun.3 - 1 460 c.253G>A c.(253-255)GGG>AGG p.G85R CELF6_uc002auk.3_RNA|HEXA_uc010ukn.1_Missense_Mutation_p.G85S|HEXA_uc002auo.3_5'UTR|HEXA_uc010bix.2_Missense_Mutation_p.G85R|HEXA_uc010biy.2_5'UTR|HEXA_uc010uko.1_5'UTR|HEXA_uc010biz.1_RNA|C15orf34_uc010ukp.1_5'Flank NM_000520 NP_000511 P06865 HEXA_HUMAN hexosaminidase A preproprotein 85 cell death lysosome beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity ovary(3)|upper_aerodigestive_tract(1) 4 TCCGACTCACCTGTGAGGTAA 0.657 6 103 --- --- --- --- PASS CYP1A1 1543 broad.mit.edu 37 15 75014644 75014644 + Missense_Mutation SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr15:75014644C>T uc002ayp.3 - 2 917 c.795G>A c.(793-795)ATG>ATA p.M265I CYP1A1_uc010bjv.2_RNA|CYP1A1_uc010bjw.2_RNA|CYP1A1_uc010bju.2_Missense_Mutation_p.M1I|CYP1A1_uc010bjx.2_Missense_Mutation_p.M1I|CYP1A1_uc002ayq.3_Missense_Mutation_p.M265I|CYP1A1_uc010bjy.2_Missense_Mutation_p.M265I|CYP1A1_uc010bjz.1_Missense_Mutation_p.M1I NM_000499 NP_000490 P04798 CP1A1_HUMAN cytochrome P450, family 1, subfamily A, 265 cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity ovary(2)|breast(2)|pancreas(1) 5 Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730) GCTCCTTGACCATCTTCTGCA 0.512 Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia 16 31 --- --- --- --- PASS ARNT2 9915 broad.mit.edu 37 15 80806299 80806299 + Missense_Mutation SNP C G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr15:80806299C>G uc002bfr.2 + 7 939 c.773C>G c.(772-774)ACC>AGC p.T258S ARNT2_uc010unm.1_Missense_Mutation_p.T247S|ARNT2_uc002bfs.2_Missense_Mutation_p.T247S NM_014862 NP_055677 Q9HBZ2 ARNT2_HUMAN aryl hydrocarbon receptor nuclear translocator 258 central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(3)|ovary(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.134) AGAATAACCACCATGAGGAAA 0.413 29 25 --- --- --- --- PASS ZNF774 342132 broad.mit.edu 37 15 90904301 90904301 + Missense_Mutation SNP A G G rs141917260 TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr15:90904301A>G uc002bpk.3 + 4 1424 c.1238A>G c.(1237-1239)AAT>AGT p.N413S NM_001004309 NP_001004309 Q6NX45 ZN774_HUMAN zinc finger protein 774 413 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331) BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) AAGAGCTTCAATCAGAGCTCC 0.512 9 40 --- --- --- --- PASS PRC1 9055 broad.mit.edu 37 15 91527314 91527314 + Missense_Mutation SNP T G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr15:91527314T>G uc002bqm.2 - 3 358 c.201A>C c.(199-201)AAA>AAC p.K67N PRC1_uc002bqn.2_Missense_Mutation_p.K67N|PRC1_uc002bqo.2_Missense_Mutation_p.K67N|PRC1_uc010uqs.1_Intron|PRC1_uc010uqt.1_Missense_Mutation_p.K15N NM_003981 NP_003972 O43663 PRC1_HUMAN protein regulator of cytokinesis 1 isoform 1 67 Dimerization. cytokinesis|mitotic spindle elongation cytoplasm|nucleus|spindle microtubule|spindle pole protein binding ovary(1)|skin(1) 2 Lung NSC(78;0.0987)|all_lung(78;0.175) CGGATATGCTTTTGATGAGTC 0.483 22 270 --- --- --- --- PASS OR4F15 390649 broad.mit.edu 37 15 102358526 102358526 + Missense_Mutation SNP T A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr15:102358526T>A uc010uts.1 + 1 137 c.137T>A c.(136-138)GTA>GAA p.V46E NM_001001674 NP_001001674 Q8NGB8 O4F15_HUMAN olfactory receptor, family 4, subfamily F, 46 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) CTTGTCATTGTATTCACTGTA 0.433 20 86 --- --- --- --- PASS ZNF434 54925 broad.mit.edu 37 16 3434632 3434632 + Missense_Mutation SNP G T T rs149193108 byFrequency TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr16:3434632G>T uc002cuz.2 - 5 1227 c.425C>A c.(424-426)CCT>CAT p.P142H ZNF434_uc002cux.3_Missense_Mutation_p.P353H|ZNF434_uc010uwx.1_Missense_Mutation_p.P65H|ZNF434_uc002cuy.3_Missense_Mutation_p.P65H|ZNF434_uc010uwy.1_Missense_Mutation_p.P65H|ZNF434_uc010uwz.1_Missense_Mutation_p.P353H|ZNF434_uc010uxa.1_Missense_Mutation_p.P142H NM_017810 NP_060280 Q9NX65 ZN434_HUMAN zinc finger protein 434 142 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 TTCTTGGCCAGGAACAGCATC 0.532 6 92 --- --- --- --- PASS CIITA 4261 broad.mit.edu 37 16 11009505 11009505 + Silent SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr16:11009505G>T uc002dai.3 + 14 3100 c.2967G>T c.(2965-2967)CTG>CTT p.L989L CIITA_uc002daj.3_Silent_p.L990L|CIITA_uc002dak.3_Silent_p.L405L NM_000246 NP_000237 P33076 C2TA_HUMAN class II transactivator 989 LRR 1. Missing (in BLS2). interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1) 1 TGCAGCATCTGGAGTGAGTAT 0.408 T FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75 PMBL|Hodgkin Lymphona| 5 36 --- --- --- --- PASS GSPT1 2935 broad.mit.edu 37 16 11979113 11979113 + Silent SNP T C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr16:11979113T>C uc002dbr.2 - 8 885 c.858A>G c.(856-858)CCA>CCG p.P286P GSPT1_uc002dbu.2_Silent_p.P423P|GSPT1_uc002dbt.2_Silent_p.P424P|GSPT1_uc010bux.2_Silent_p.P286P NM_001130007 NP_001123479 P15170 ERF3A_HUMAN G1 to S phase transition 1 isoform 3 286 G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation intracellular GTP binding|GTPase activity|protein binding|translation release factor activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 TATCCAGATATGGAATAAACG 0.343 15 24 --- --- --- --- PASS SEZ6L2 26470 broad.mit.edu 37 16 29909221 29909221 + Missense_Mutation SNP A G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr16:29909221A>G uc002duq.3 - 2 404 c.164T>C c.(163-165)CTT>CCT p.L55P uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.L55P|SEZ6L2_uc002dur.3_Missense_Mutation_p.L55P|SEZ6L2_uc002dus.3_Missense_Mutation_p.L55P|SEZ6L2_uc010vec.1_Missense_Mutation_p.L55P|SEZ6L2_uc010ved.1_Intron|ASPHD1_uc002dut.2_5'Flank|ASPHD1_uc002duu.3_5'Flank|ASPHD1_uc010bzi.2_5'Flank NM_201575 NP_963869 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 isoform 55 Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane|plasma membrane ovary(1)|skin(1) 2 GGCCCCATGAAGCAGTTCAGC 0.637 13 48 --- --- --- --- PASS RBL2 5934 broad.mit.edu 37 16 53476745 53476745 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr16:53476745C>A uc002ehi.3 + 3 665 c.547C>A c.(547-549)CGT>AGT p.R183S RBL2_uc010vgv.1_Missense_Mutation_p.R109S NM_005611 NP_005602 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 183 cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(2)|lung(2)|upper_aerodigestive_tract(1) 5 GGAGCAACCTCGTCAGCAGCG 0.393 4 35 --- --- --- --- PASS CCDC102A 92922 broad.mit.edu 37 16 57555030 57555030 + Missense_Mutation SNP T G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr16:57555030T>G uc002elw.2 - 4 1084 c.871A>C c.(871-873)AAG>CAG p.K291Q NM_033212 NP_149989 Q96A19 C102A_HUMAN coiled-coil domain containing 102A 291 Potential. ovary(1) 1 TACTTGATCTTCCACTGGCTG 0.582 26 102 --- --- --- --- PASS CES2 8824 broad.mit.edu 37 16 66977823 66977823 + Silent SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr16:66977823G>T uc002eqr.2 + 12 2767 c.1767G>T c.(1765-1767)GCG>GCT p.A589A CES2_uc002eqq.2_Silent_p.A573A|CES2_uc002eqs.2_Silent_p.A432A NM_003869 NP_003860 O00748 EST2_HUMAN carboxylesterase 2 isoform 1 525 catabolic process endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166) TACAGCCTGCGGTGGGCCGGG 0.612 11 17 --- --- --- --- PASS TMCO7 79613 broad.mit.edu 37 16 68894080 68894080 + Missense_Mutation SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr16:68894080C>T uc002ewi.3 + 2 400 c.388C>T c.(388-390)CCT>TCT p.P130S TMCO7_uc002ewh.2_Missense_Mutation_p.P130S NM_024562 NP_078838 Q9C0B7 TMCO7_HUMAN transmembrane and coiled-coil domains 7 130 integral to membrane binding 0 Ovarian(137;0.0568) OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198) GGAAGTTGCTCCTGCCCTGAG 0.483 67 123 --- --- --- --- PASS METT10D 79066 broad.mit.edu 37 17 2381044 2381044 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr17:2381044C>A uc002fut.2 - 3 412 c.264G>T c.(262-264)TGG>TGT p.W88C METT10D_uc002fuu.3_RNA|METT10D_uc010cka.2_RNA|METT10D_uc002fuv.2_Missense_Mutation_p.W88C|METT10D_uc010vqx.1_RNA|METT10D_uc010vqy.1_5'UTR NM_024086 NP_076991 Q86W50 MET16_HUMAN methyltransferase 10 domain containing 88 methyltransferase activity 0 GATCTTCTACCCAGTGAATAT 0.383 6 76 --- --- --- --- PASS USP6 9098 broad.mit.edu 37 17 5033921 5033921 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr17:5033921G>T uc002gau.1 + 11 2327 c.97G>T c.(97-99)GAC>TAC p.D33Y USP6_uc002gav.1_Missense_Mutation_p.D33Y|USP6_uc010ckz.1_5'UTR|USP6_uc002gaw.2_Missense_Mutation_p.D33Y NM_004505 NP_004496 P35125 UBP6_HUMAN ubiquitin specific protease 6 33 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1) 5 GCTGCCAGAGGACAAGGGGCC 0.587 T COL1A1|CDH11|ZNF9|OMD aneurysmal bone cysts 6 57 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578415 7578415 + Missense_Mutation SNP A C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr17:7578415A>C uc002gim.2 - 5 709 c.515T>G c.(514-516)GTT>GGT p.V172G TP53_uc002gig.1_Missense_Mutation_p.V172G|TP53_uc002gih.2_Missense_Mutation_p.V172G|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V40G|TP53_uc010cng.1_Missense_Mutation_p.V40G|TP53_uc002gii.1_Missense_Mutation_p.V40G|TP53_uc010cnh.1_Missense_Mutation_p.V172G|TP53_uc010cni.1_Missense_Mutation_p.V172G|TP53_uc002gij.2_Missense_Mutation_p.V172G|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.V79G|TP53_uc002gio.2_Missense_Mutation_p.V40G|TP53_uc010vug.1_Missense_Mutation_p.V133G NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 172 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). V -> A (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.V172F(10)|p.V172D(8)|p.V172I(7)|p.0?(7)|p.V172V(4)|p.V172A(4)|p.V172fs*2(3)|p.V172G(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.E171fs*61(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.T170fs*8(1)|p.V172fs*9(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.E171_V172delEV(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCGCCTCACAACCTCCGTCAT 0.657 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 12 16 --- --- --- --- PASS MAPK7 5598 broad.mit.edu 37 17 19284863 19284863 + Silent SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr17:19284863C>T uc002gvn.2 + 4 1727 c.1341C>T c.(1339-1341)GAC>GAT p.D447D MAPK7_uc002gvo.2_Silent_p.D308D|MAPK7_uc002gvq.2_Silent_p.D447D|MAPK7_uc002gvp.2_Silent_p.D447D NM_139033 NP_620602 Q13164 MK07_HUMAN mitogen-activated protein kinase 7 isoform 1 447 May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).|Pro-rich. cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|protein binding central_nervous_system(4)|lung(3)|stomach(1)|skin(1) 9 all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206) CTGCACCTGACACCATTGATC 0.597 8 17 --- --- --- --- PASS ERAL1 26284 broad.mit.edu 37 17 27186253 27186253 + Silent SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr17:27186253G>T uc002hcy.1 + 9 1153 c.1143G>T c.(1141-1143)GGG>GGT p.G381G ERAL1_uc002hcz.1_RNA|ERAL1_uc002hda.1_Silent_p.G188G|ERAL1_uc002hdb.1_Silent_p.G264G NM_005702 NP_005693 O75616 ERAL1_HUMAN Era-like 1 381 KH type-2. ribosomal small subunit assembly mitochondrial inner membrane|mitochondrial matrix GTP binding|ribosomal small subunit binding|rRNA binding skin(1) 1 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105) GACCAGGTGGGGAGCTGGTTA 0.493 6 66 --- --- --- --- PASS ATAD5 79915 broad.mit.edu 37 17 29221045 29221045 + Missense_Mutation SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr17:29221045C>T uc002hfs.1 + 21 5520 c.5174C>T c.(5173-5175)TCA>TTA p.S1725L NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1725 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) TCTGCTATTTCAAAAGCATTG 0.358 6 29 --- --- --- --- PASS KRT222 125113 broad.mit.edu 37 17 38816289 38816289 + Silent SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr17:38816289C>A uc002hvc.2 - 3 461 c.396G>T c.(394-396)CTG>CTT p.L132L KRT222_uc010wfk.1_RNA|KRT222_uc002hvb.2_Silent_p.L92L|KRT222_uc010cxc.2_Silent_p.L92L NM_152349 NP_689562 Q8N1A0 KT222_HUMAN truncated type I keratin KA21 132 Potential. intermediate filament structural molecule activity central_nervous_system(1)|skin(1) 2 TTTCTTGTTCCAGCCTCATCT 0.443 6 106 --- --- --- --- PASS BRCA1 672 broad.mit.edu 37 17 41256906 41256906 + Nonsense_Mutation SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr17:41256906G>A uc002icq.2 - 5 512 c.280C>T c.(280-282)CAG>TAG p.Q94* BRCA1_uc010whp.1_Nonsense_Mutation_p.Q47*|BRCA1_uc010whl.1_Nonsense_Mutation_p.Q94*|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Nonsense_Mutation_p.Q24*|BRCA1_uc002icu.2_Nonsense_Mutation_p.Q94*|BRCA1_uc010cyx.2_Nonsense_Mutation_p.Q47*|BRCA1_uc002ict.2_Nonsense_Mutation_p.Q94*|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_5'UTR|BRCA1_uc002idc.1_Nonsense_Mutation_p.Q94*|BRCA1_uc010whr.1_Nonsense_Mutation_p.Q47*|BRCA1_uc002idd.2_Nonsense_Mutation_p.Q94*|BRCA1_uc002ide.1_5'UTR|BRCA1_uc010cyy.1_Nonsense_Mutation_p.Q94*|BRCA1_uc010whs.1_Nonsense_Mutation_p.Q94*|BRCA1_uc010cyz.2_Nonsense_Mutation_p.Q47*|BRCA1_uc010cza.2_Nonsense_Mutation_p.Q68*|BRCA1_uc010wht.1_Intron NM_007294 NP_009225 P38398 BRCA1_HUMAN breast cancer 1, early onset isoform 1 94 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1) 52 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) GTGTCAAGCTGAAAAGCACAA 0.373 D|Mis|N|F|S ovarian breast|ovarian Homologous_recombination Hereditary_Breast-Ovarian_Cancer_BRCA1_type TCGA Ovarian(2;0.000030) 42 16 --- --- --- --- PASS TMEM101 84336 broad.mit.edu 37 17 42089419 42089419 + Silent SNP G C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr17:42089419G>C uc002ieu.2 - 4 676 c.651C>G c.(649-651)CTC>CTG p.L217L TMEM101_uc010wis.1_Silent_p.L159L NM_032376 NP_115752 Q96IK0 TM101_HUMAN transmembrane protein 101 217 Helical; (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane signal transducer activity upper_aerodigestive_tract(1)|central_nervous_system(1) 2 Breast(137;0.0264)|Prostate(33;0.0861) BRCA - Breast invasive adenocarcinoma(366;0.113) TGCCATCAATGAGCAGCATGA 0.567 12 54 --- --- --- --- PASS NFE2L1 4779 broad.mit.edu 37 17 46135878 46135878 + Silent SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr17:46135878C>T uc002imz.3 + 6 1845 c.1194C>T c.(1192-1194)CCC>CCT p.P398P NFE2L1_uc002ina.3_Silent_p.P368P|NFE2L1_uc002inb.3_Silent_p.P368P|NFE2L1_uc010wle.1_Silent_p.P210P|NFE2L1_uc010wlf.1_Silent_p.P242P NM_003204 NP_003195 Q14494 NF2L1_HUMAN nuclear factor erythroid 2-like 1 398 anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity skin(1) 1 CGTTGGCCCCCAGCAATTCTA 0.622 9 76 --- --- --- --- PASS IGF2BP1 10642 broad.mit.edu 37 17 47122365 47122365 + Nonsense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr17:47122365G>T uc002iom.2 + 12 1667 c.1333G>T c.(1333-1335)GAA>TAA p.E445* IGF2BP1_uc010dbj.2_Nonsense_Mutation_p.E306* NM_006546 NP_006537 Q9NZI8 IF2B1_HUMAN insulin-like growth factor 2 mRNA binding 445 KH 3.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity). CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity kidney(1) 1 TGCACCACCCGAAACACCTGA 0.483 64 51 --- --- --- --- PASS STXBP4 252983 broad.mit.edu 37 17 53108533 53108533 + Missense_Mutation SNP T C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr17:53108533T>C uc002iuf.1 + 9 878 c.671T>C c.(670-672)CTA>CCA p.L224P STXBP4_uc010dcc.1_Missense_Mutation_p.L149P|STXBP4_uc010dcd.1_Missense_Mutation_p.L224P NM_178509 NP_848604 Q6ZWJ1 STXB4_HUMAN syntaxin binding protein 4 224 cytoplasm calcium ion binding ovary(1) 1 TTCCAGGCTCTAAATTATCTT 0.363 3 22 --- --- --- --- PASS C17orf71 55181 broad.mit.edu 37 17 57288253 57288253 + Silent SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr17:57288253C>A uc002ixi.2 + 1 883 c.841C>A c.(841-843)CGG>AGG p.R281R NM_018149 NP_060619 Q8ND04 SMG8_HUMAN SMG8 protein 281 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding 0 all_neural(34;0.0837)|Medulloblastoma(34;0.0922) AGAACCTCCTCGGAACCAAGA 0.512 4 79 --- --- --- --- PASS APPBP2 10513 broad.mit.edu 37 17 58538059 58538059 + Silent SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr17:58538059G>A uc002iys.1 - 9 1314 c.1026C>T c.(1024-1026)GTC>GTT p.V342V APPBP2_uc010ddl.1_Silent_p.V271V NM_006380 NP_006371 Q92624 APBP2_HUMAN amyloid beta precursor protein-binding protein 342 TPR 5. intracellular protein transport cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus microtubule motor activity|protein binding 0 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01) TATACTGGTGGACATAAGAAG 0.398 21 16 --- --- --- --- PASS ABCA9 10350 broad.mit.edu 37 17 66972116 66972116 + Missense_Mutation SNP A T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr17:66972116A>T uc002jhu.2 - 39 4958 c.4815T>A c.(4813-4815)GAT>GAA p.D1605E ABCA9_uc010dez.2_Missense_Mutation_p.D1567E NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A, member 9 1605 transport integral to membrane ATP binding|ATPase activity ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 Breast(10;1.47e-12) CCTCTTCAAGATCACCCAGCT 0.473 15 9 --- --- --- --- PASS TRIM47 91107 broad.mit.edu 37 17 73870746 73870746 + Missense_Mutation SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr17:73870746G>A uc002jpw.2 - 6 1762 c.1735C>T c.(1735-1737)CGG>TGG p.R579W TRIM47_uc002jpv.2_Missense_Mutation_p.R341W NM_033452 NP_258411 Q96LD4 TRI47_HUMAN tripartite motif-containing 47 579 B30.2/SPRY. cytoplasm|nucleus zinc ion binding ovary(2)|prostate(1)|lung(1)|breast(1) 5 Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) CGGCGGGGCCGGGAGGCCTTC 0.667 8 36 --- --- --- --- PASS ZNF750 79755 broad.mit.edu 37 17 80790024 80790024 + Nonsense_Mutation SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr17:80790024G>A uc002kga.2 - 2 618 c.307C>T c.(307-309)CAG>TAG p.Q103* TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron NM_024702 NP_078978 Q32MQ0 ZN750_HUMAN zinc finger protein 750 103 intracellular zinc ion binding central_nervous_system(1) 1 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) GAGCTGTGCTGAAGCTTCGAG 0.597 27 28 --- --- --- --- PASS LAMA3 3909 broad.mit.edu 37 18 21531685 21531685 + Nonsense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr18:21531685C>A uc002kuq.2 + 73 9766 c.9680C>A c.(9679-9681)TCA>TAA p.S3227* LAMA3_uc002kur.2_Nonsense_Mutation_p.S3171*|LAMA3_uc002kus.3_Nonsense_Mutation_p.S1618*|LAMA3_uc002kut.3_Nonsense_Mutation_p.S1562* NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 3227 Laminin G-like 5. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGTGGGACCTCAACGTCGGTC 0.552 4 14 --- --- --- --- PASS ZNF271 10778 broad.mit.edu 37 18 32886865 32886865 + Missense_Mutation SNP G C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr18:32886865G>C uc002kyq.3 + 3 1269 c.277G>C c.(277-279)GGC>CGC p.G93R ZNF271_uc002kyp.3_Missense_Mutation_p.G93R|ZNF271_uc002kyr.3_Missense_Mutation_p.G93R NR_024565 SubName: Full=cDNA FLJ13394 fis, clone PLACE1001304, highly similar to Homo sapiens zinc finger protein 271 (ZNF271), mRNA; 0 ACCTTCAGTAGGCTTTCAGAT 0.383 21 11 --- --- --- --- PASS MYO5B 4645 broad.mit.edu 37 18 47363917 47363917 + Missense_Mutation SNP A G G rs138128932 by1000genomes TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr18:47363917A>G uc002leb.2 - 37 5396 c.5108T>C c.(5107-5109)GTC>GCC p.V1703A MYO5B_uc002ldz.2_Missense_Mutation_p.V273A|MYO5B_uc002lea.2_Missense_Mutation_p.V818A NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN myosin VB 1703 Dilute. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(2)|central_nervous_system(1) 5 READ - Rectum adenocarcinoma(32;0.103) CCAAGAGCAGACGTCCTTCCG 0.527 3 37 --- --- --- --- PASS MYO5B 4645 broad.mit.edu 37 18 47404253 47404253 + Splice_Site SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr18:47404253C>A uc002leb.2 - 25 3565 c.3277_splice c.e25-1 p.Q1093_splice MYO5B_uc002lea.2_Splice_Site_p.Q234_splice NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN myosin VB protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(2)|central_nervous_system(1) 5 READ - Rectum adenocarcinoma(32;0.103) CTGGAGTTTGCTGTTCAACAA 0.453 58 30 --- --- --- --- PASS WDR7 23335 broad.mit.edu 37 18 54349917 54349917 + Missense_Mutation SNP A G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr18:54349917A>G uc002lgk.1 + 5 564 c.353A>G c.(352-354)CAG>CGG p.Q118R WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.Q118R NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN rabconnectin-3 beta isoform 1 118 ovary(2)|skin(1) 3 Lung(128;0.0238)|Colorectal(16;0.0296) TAGTTCTACCAGTTCTCTGTT 0.373 26 21 --- --- --- --- PASS PHLPP1 23239 broad.mit.edu 37 18 60612496 60612496 + Missense_Mutation SNP G C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr18:60612496G>C uc002lis.2 + 13 1958 c.1780G>C c.(1780-1782)GAG>CAG p.E594Q NM_194449 NP_919431 O60346 PHLP1_HUMAN PH domain and leucine rich repeat protein 1106 LRR 20. apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity 0 GCAGCTCCCAGAGATCAAGGT 0.458 6 39 --- --- --- --- PASS C18orf55 29090 broad.mit.edu 37 18 71816207 71816207 + Missense_Mutation SNP G C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr18:71816207G>C uc010dqr.1 + 1 462 c.164G>C c.(163-165)AGA>ACA p.R55T FBXO15_uc002lle.2_5'Flank|FBXO15_uc002llf.2_5'Flank NM_014177 NP_054896 Q9BVV7 TI21L_HUMAN hypothetical protein LOC29090 precursor 55 protein transport|transmembrane transport integral to membrane|mitochondrial membrane 0 Esophageal squamous(42;0.0746)|Prostate(75;0.157)|Melanoma(33;0.211) CTGCGACCTAGATGTATTCTT 0.493 83 105 --- --- --- --- PASS MKNK2 2872 broad.mit.edu 37 19 2043172 2043172 + Silent SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr19:2043172G>A uc002lus.2 - 7 689 c.444C>T c.(442-444)TTC>TTT p.F148F MKNK2_uc002luq.1_5'Flank|MKNK2_uc010xgu.1_Intron|MKNK2_uc010xgv.1_Silent_p.F17F|MKNK2_uc002lur.2_Silent_p.F148F|MKNK2_uc002lut.1_5'Flank NM_199054 NP_951009 Q9HBH9 MKNK2_HUMAN MAP kinase-interacting serine/threonine kinase 2 148 Protein kinase. cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation ATP binding|metal ion binding|protein serine/threonine kinase activity lung(1)|breast(1) 2 Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTCCTCGAAGAACTCAATCA 0.637 23 144 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9047990 9047990 + Missense_Mutation SNP C G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr19:9047990C>G uc002mkp.2 - 5 33845 c.33641G>C c.(33640-33642)AGT>ACT p.S11214T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 11216 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TGACCCAGAACTAGTGACCAG 0.483 12 36 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9076334 9076334 + Missense_Mutation SNP A T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr19:9076334A>T uc002mkp.2 - 3 11316 c.11112T>A c.(11110-11112)GAT>GAA p.D3704E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 3705 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AAACAGGCACATCTTCTGCTT 0.438 39 103 --- --- --- --- PASS ZNF426 79088 broad.mit.edu 37 19 9639645 9639645 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr19:9639645C>A uc002mlq.2 - 8 1340 c.1076G>T c.(1075-1077)AGT>ATT p.S359I ZNF426_uc010dws.2_Missense_Mutation_p.S321I NM_024106 NP_077011 Q9BUY5 ZN426_HUMAN zinc finger protein 426 359 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CTTGTCTCCACTGTGAGATCG 0.443 10 49 --- --- --- --- PASS ICAM5 7087 broad.mit.edu 37 19 10401852 10401852 + Missense_Mutation SNP G C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr19:10401852G>C uc002mnu.3 + 2 252 c.187G>C c.(187-189)GAG>CAG p.E63Q ICAM5_uc002mnv.3_5'Flank NM_003259 NP_003250 Q9UMF0 ICAM5_HUMAN intercellular adhesion molecule 5 precursor 63 Extracellular (Potential).|Ig-like C2-type 1. cell-cell adhesion integral to plasma membrane breast(3) 3 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) CCCTCGGCCGGAGCGCGGTGG 0.697 4 13 --- --- --- --- PASS TYK2 7297 broad.mit.edu 37 19 10475529 10475529 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr19:10475529G>T uc002moc.3 - 8 1585 c.1207C>A c.(1207-1209)CTG>ATG p.L403M TYK2_uc010dxe.2_Missense_Mutation_p.L218M|TYK2_uc002mod.2_Missense_Mutation_p.L403M NM_003331 NP_003322 P29597 TYK2_HUMAN tyrosine kinase 2 403 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) GGCCTCACCAGGCACTTGTTG 0.647 6 58 --- --- --- --- PASS SLC44A2 57153 broad.mit.edu 37 19 10736965 10736965 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr19:10736965C>A uc002mpf.2 + 2 213 c.74C>A c.(73-75)CCC>CAC p.P25H SLC44A2_uc002mpe.3_Missense_Mutation_p.P23H NM_020428 NP_065161 Q8IWA5 CTL2_HUMAN solute carrier family 44, member 2 isoform 1 25 Cytoplasmic (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity ovary(1) 1 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) TTCAAAGGACCCATTTACAAT 0.498 23 66 --- --- --- --- PASS CCDC151 115948 broad.mit.edu 37 19 11533515 11533515 + Silent SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr19:11533515C>A uc002mrs.2 - 9 1274 c.1131G>T c.(1129-1131)CGG>CGT p.R377R CCDC151_uc002mrr.2_Silent_p.R312R|CCDC151_uc010dxz.2_Silent_p.R317R NM_145045 NP_659482 A5D8V7 CC151_HUMAN coiled-coil domain containing 151 377 ovary(1) 1 GGGCCAGGAACCGCCGCACCA 0.667 5 13 --- --- --- --- PASS EMR3 84658 broad.mit.edu 37 19 14748926 14748926 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr19:14748926G>T uc002mzi.3 - 11 1623 c.1475C>A c.(1474-1476)ACT>AAT p.T492N EMR3_uc010dzp.2_Missense_Mutation_p.T440N|EMR3_uc010xnv.1_Missense_Mutation_p.T366N NM_032571 NP_115960 Q9BY15 EMR3_HUMAN egf-like module-containing mucin-like receptor 492 Extracellular (Potential). neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(5)|skin(1) 6 CCGATCAGCAGTTCCATAAAG 0.493 15 60 --- --- --- --- PASS NDUFA13 51079 broad.mit.edu 37 19 19646197 19646197 + Missense_Mutation SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr19:19646197C>T uc010xqy.1 + 6 986 c.727C>T c.(727-729)CGG>TGG p.R243W YJEFN3_uc002nmt.1_Missense_Mutation_p.R161W|YJEFN3_uc010ecf.1_Missense_Mutation_p.R111W|YJEFN3_uc002nmu.1_RNA|CILP2_uc002nmv.3_5'Flank|CILP2_uc002nmw.3_5'Flank NM_015965 NP_057049 Q9P0J0 NDUAD_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha Error:Variant_position_missing_in_Q9P0J0_after_alignment apoptotic nuclear change|induction of apoptosis by extracellular signals|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|negative regulation of translation|protein import into nucleus|reactive oxygen species metabolic process|respiratory electron transport chain integral to membrane|mitochondrial respiratory chain complex I|nucleoplasm ATP binding|NADH dehydrogenase (ubiquinone) activity|protein binding 0 NADH(DB00157) CCTGCTGCATCGGGACCTGAC 0.627 6 22 --- --- --- --- PASS UQCRFS1 7386 broad.mit.edu 37 19 29698533 29698533 + Missense_Mutation SNP G C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr19:29698533G>C uc002nsd.2 - 2 858 c.747C>G c.(745-747)ATC>ATG p.I249M NM_006003 NP_005994 P47985 UCRI_HUMAN ubiquinol-cytochrome c reductase, Rieske 249 Rieske. respiratory electron transport chain integral to membrane|mitochondrial respiratory chain complex III 2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity 0 Breast(6;0.0545)|Esophageal squamous(110;0.239) Lung(7;0.092) GACCCAATCTGATCCTGCCAG 0.473 7 22 --- --- --- --- PASS SLC7A9 11136 broad.mit.edu 37 19 33350756 33350756 + Silent SNP C G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr19:33350756C>G uc002ntv.3 - 8 981 c.864G>C c.(862-864)GCG>GCC p.A288A SLC7A9_uc002ntt.3_RNA|SLC7A9_uc002ntu.3_Silent_p.A288A|SLC7A9_uc002ntw.3_Silent_p.A79A NM_001126335 NP_001119807 P82251 BAT1_HUMAN solute carrier family 7, member 9 288 Extracellular (Potential). blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding skin(1) 1 Esophageal squamous(110;0.137) L-Cystine(DB00138) CCACAGCCACCGCCTGGGACT 0.632 6 16 --- --- --- --- PASS KIRREL2 84063 broad.mit.edu 37 19 36351210 36351210 + Missense_Mutation SNP G C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr19:36351210G>C uc002ocb.3 + 6 897 c.685G>C c.(685-687)GTG>CTG p.V229L KIRREL2_uc002obz.3_Missense_Mutation_p.V229L|KIRREL2_uc002oca.3_Missense_Mutation_p.V179L|KIRREL2_uc002occ.3_Missense_Mutation_p.V176L|KIRREL2_uc002ocd.3_Missense_Mutation_p.V226L NM_199180 NP_954649 Q6UWL6 KIRR2_HUMAN kin of IRRE-like 2 isoform c 229 Ig-like C2-type 3.|Extracellular (Potential). cell adhesion integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCCCCCAGAGGTGACTCTGTC 0.532 14 52 --- --- --- --- PASS RYR1 6261 broad.mit.edu 37 19 38948752 38948752 + Missense_Mutation SNP T C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr19:38948752T>C uc002oit.2 + 18 2117 c.1987T>C c.(1987-1989)TTT>CTT p.F663L RYR1_uc002oiu.2_Missense_Mutation_p.F663L NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 663 Cytoplasmic.|B30.2/SPRY 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CAAATGGTACTTTGAGGTGAT 0.617 10 40 --- --- --- --- PASS RYR1 6261 broad.mit.edu 37 19 38994876 38994876 + Missense_Mutation SNP A G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr19:38994876A>G uc002oit.2 + 50 8073 c.7943A>G c.(7942-7944)TAT>TGT p.Y2648C RYR1_uc002oiu.2_Missense_Mutation_p.Y2648C|RYR1_uc002oiv.1_5'UTR NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 2648 Cytoplasmic.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) ACCAACCACTATGAGCGCTGT 0.607 5 22 --- --- --- --- PASS IL28B 282617 broad.mit.edu 37 19 39734686 39734686 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr19:39734686G>T uc010xut.1 - 3 374 c.370C>A c.(370-372)CAC>AAC p.H124N IL28B_uc010xuu.1_Missense_Mutation_p.H124N NM_172139 NP_742151 Q8IZI9 IL28B_HUMAN interleukin 28B 124 response to virus extracellular space cytokine activity 0 all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315) Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) TGCAGGGTGTGAAGGGGCTGG 0.667 16 39 --- --- --- --- PASS PAF1 54623 broad.mit.edu 37 19 39880797 39880797 + Nonsense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr19:39880797C>A uc002old.2 - 3 257 c.82G>T c.(82-84)GGA>TGA p.G28* PAF1_uc002ole.1_Nonsense_Mutation_p.G18*|PAF1_uc010xuv.1_RNA|MED29_uc010xuw.1_5'Flank|MED29_uc002olf.2_5'Flank|MED29_uc010xux.1_5'Flank NM_019088 NP_061961 Q8N7H5 PAF1_HUMAN Paf1, RNA polymerase II associated factor, 28 histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding pancreas(1) 1 all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) CAGACCACTCCAGACCTAGGA 0.597 5 61 --- --- --- --- PASS SELV 348303 broad.mit.edu 37 19 40006605 40006605 + Silent SNP C G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr19:40006605C>G uc010xvc.1 + 1 853 c.753C>G c.(751-753)CCC>CCG p.P251P NM_182704 NP_874363 P59797 SELV_HUMAN selenoprotein V 251 cell redox homeostasis selenium binding 0 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) AAACCTTCCCCTCCTCCAGCG 0.627 5 26 --- --- --- --- PASS B3GNT8 374907 broad.mit.edu 37 19 41931914 41931914 + Missense_Mutation SNP A C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr19:41931914A>C uc002oqs.2 - 3 1224 c.770T>G c.(769-771)CTG>CGG p.L257R CYP2F1_uc010xvw.1_Intron|B3GNT8_uc002oqt.1_Intron NM_198540 NP_940942 Q7Z7M8 B3GN8_HUMAN UDP-GlcNAc:betaGal 257 Lumenal (Potential). poly-N-acetyllactosamine biosynthetic process|protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity 0 CAGGTGAGCCAGCAGGGCAGG 0.652 8 22 --- --- --- --- PASS IRGC 56269 broad.mit.edu 37 19 44223961 44223961 + Silent SNP G C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr19:44223961G>C uc002oxh.2 + 2 1398 c.1251G>C c.(1249-1251)GTG>GTC p.V417V NM_019612 NP_062558 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 417 membrane GTP binding|hydrolase activity, acting on acid anhydrides ovary(1)|central_nervous_system(1)|skin(1) 3 Prostate(69;0.0435) GCTTGGAAGTGGCCAGTGACA 0.637 20 12 --- --- --- --- PASS RSPH6A 81492 broad.mit.edu 37 19 46308061 46308061 + Missense_Mutation SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr19:46308061C>T uc002pdm.2 - 3 1245 c.1102G>A c.(1102-1104)GAG>AAG p.E368K RSPH6A_uc002pdl.2_Missense_Mutation_p.E104K NM_030785 NP_110412 Q9H0K4 RSH6A_HUMAN radial spokehead-like 1 368 Glu-rich. intracellular ovary(1)|central_nervous_system(1) 2 tcctctgcctcctcctcgccc 0.353 21 19 --- --- --- --- PASS CLEC11A 6320 broad.mit.edu 37 19 51226889 51226889 + Missense_Mutation SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr19:51226889C>T uc002psy.2 + 1 285 c.107C>T c.(106-108)GCC>GTC p.A36V NM_002975 NP_002966 Q9Y240 CLC11_HUMAN stem cell growth factor precursor 36 positive regulation of cell proliferation cytoplasm|extracellular region growth factor activity|sugar binding ovary(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) tggggaggtgcccaggaggag 0.413 8 27 --- --- --- --- PASS NKG7 4818 broad.mit.edu 37 19 51875756 51875756 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr19:51875756C>A uc002pwj.2 - 1 205 c.34G>T c.(34-36)GGC>TGC p.G12C NKG7_uc002pwk.2_Missense_Mutation_p.G12C NM_005601 NP_005592 Q16617 NKG7_HUMAN natural killer cell group 7 sequence 12 Helical; (Potential). integral to plasma membrane central_nervous_system(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CCCAGGGAGCCCCCCAGCAGG 0.478 27 16 --- --- --- --- PASS ZNF615 284370 broad.mit.edu 37 19 52497492 52497492 + Silent SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr19:52497492C>T uc002pye.1 - 6 1129 c.837G>A c.(835-837)CAG>CAA p.Q279Q ZNF615_uc002pyf.1_Silent_p.Q290Q|ZNF615_uc002pyg.1_Silent_p.Q171Q|ZNF615_uc002pyh.1_Silent_p.Q290Q|ZNF615_uc010epi.1_Silent_p.Q286Q|ZNF615_uc010ydg.1_Silent_p.Q284Q NM_198480 NP_940882 Q8N8J6 ZN615_HUMAN zinc finger protein 615 279 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) TATGAGTTTTCTGATGTATAT 0.403 16 78 --- --- --- --- PASS ZNF331 55422 broad.mit.edu 37 19 54080277 54080277 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr19:54080277G>T uc002qbx.1 + 7 1897 c.463G>T c.(463-465)GGT>TGT p.G155C ZNF331_uc002qby.1_Missense_Mutation_p.G155C|ZNF331_uc002qbz.1_Missense_Mutation_p.G155C|ZNF331_uc002qca.1_Missense_Mutation_p.G155C|ZNF331_uc010eqr.1_Missense_Mutation_p.G155C|ZNF331_uc002qcb.1_Missense_Mutation_p.G155C|ZNF331_uc002qcc.1_Missense_Mutation_p.G155C|ZNF331_uc002qcd.1_Missense_Mutation_p.G155C NM_018555 NP_061025 Q9NQX6 ZN331_HUMAN zinc finger protein 331 155 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|lung(1) 6 GBM - Glioblastoma multiforme(134;0.00555) AATCCATACTGGTGAGAAACC 0.413 T ? follicular thyroid adenoma 8 151 --- --- --- --- PASS CACNG6 59285 broad.mit.edu 37 19 54515268 54515268 + Missense_Mutation SNP T C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr19:54515268T>C uc002qct.2 + 4 1198 c.608T>C c.(607-609)GTC>GCC p.V203A CACNG6_uc002qcu.2_Missense_Mutation_p.V157A|CACNG6_uc002qcv.2_Missense_Mutation_p.V132A NM_145814 NP_665813 Q9BXT2 CCG6_HUMAN voltage-dependent calcium channel gamma-6 203 voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(2) 2 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.168) CTGCAGAGAGTCAGCCCGGAG 0.711 5 24 --- --- --- --- PASS LILRA4 23547 broad.mit.edu 37 19 54848764 54848764 + Missense_Mutation SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr19:54848764G>A uc002qfj.2 - 5 916 c.859C>T c.(859-861)CGC>TGC p.R287C LILRA4_uc002qfi.2_Missense_Mutation_p.R221C NM_012276 NP_036408 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor subfamily 287 Extracellular (Potential).|Ig-like C2-type 3. integral to membrane receptor activity upper_aerodigestive_tract(1)|central_nervous_system(1) 2 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) CCGTAGGAGCGGCTCACAGGG 0.682 13 15 --- --- --- --- PASS LILRB4 11006 broad.mit.edu 37 19 55179359 55179359 + Silent SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr19:55179359C>T uc002qgp.2 + 12 1598 c.1236C>T c.(1234-1236)TAC>TAT p.Y412Y LILRB4_uc002qgq.2_Silent_p.Y411Y|LILRB4_uc002qgr.2_Silent_p.Y454Y|LILRB4_uc010ert.2_Silent_p.Y453Y|LILRB4_uc010eru.2_Silent_p.Y442Y NM_006847 NP_006838 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, 412 Cytoplasmic (Potential).|ITIM motif 2. integral to membrane|plasma membrane antigen binding|receptor activity p.Y412Y(1) ovary(3) 3 GBM - Glioblastoma multiforme(193;0.035) ATGTGACCTACGCCCAGCTGC 0.647 10 56 --- --- --- --- PASS PTPRH 5794 broad.mit.edu 37 19 55708523 55708523 + Missense_Mutation SNP T A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr19:55708523T>A uc002qjq.2 - 9 2025 c.1952A>T c.(1951-1953)GAC>GTC p.D651V PTPRH_uc010esv.2_Missense_Mutation_p.D473V|PTPRH_uc002qjs.2_Missense_Mutation_p.D658V NM_002842 NP_002833 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 651 Extracellular (Potential).|Fibronectin type-III 7. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) ACTGGCTACGTCATTCCTCTC 0.562 12 13 --- --- --- --- PASS ZNF586 54807 broad.mit.edu 37 19 58291011 58291011 + Missense_Mutation SNP A C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr19:58291011A>C uc002qqd.2 + 3 1242 c.1056A>C c.(1054-1056)AAA>AAC p.K352N ZNF587_uc002qqb.2_Intron|ZNF586_uc002qqe.2_3'UTR|ZNF586_uc010euh.2_Missense_Mutation_p.K309N|ZNF586_uc002qqf.1_Intron NM_017652 NP_060122 Q9NXT0 ZN586_HUMAN zinc finger protein 586 352 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ACTGTGGGAAATCCTTTGCTG 0.433 13 72 --- --- --- --- PASS ZSCAN1 284312 broad.mit.edu 37 19 58565188 58565188 + Silent SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr19:58565188C>T uc002qrc.1 + 6 1243 c.996C>T c.(994-996)AAC>AAT p.N332N NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 332 C2H2-type 2. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) TCCTGCACAACTCCGTCCTCA 0.637 27 31 --- --- --- --- PASS ANKRD5 63926 broad.mit.edu 37 20 10036305 10036305 + Silent SNP C G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr20:10036305C>G uc002wno.2 + 11 2721 c.2328C>G c.(2326-2328)ACC>ACG p.T776T uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Silent_p.T776T|ANKRD5_uc010gbz.2_Silent_p.T587T NM_022096 NP_071379 Q9NU02 ANKR5_HUMAN ankyrin repeat domain protein 5 776 calcium ion binding ovary(1)|breast(1) 2 CCTTGAAGACCTAAGTCATAG 0.433 8 35 --- --- --- --- PASS SPTLC3 55304 broad.mit.edu 37 20 13055086 13055086 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr20:13055086C>A uc002wod.1 + 4 837 c.548C>A c.(547-549)ACA>AAA p.T183K NM_018327 NP_060797 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base 183 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups 0 Pyridoxal Phosphate(DB00114) TCTATGAGGACAATAAAGGAT 0.438 18 69 --- --- --- --- PASS C20orf26 26074 broad.mit.edu 37 20 20177290 20177290 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr20:20177290G>T uc002wru.2 + 16 1743 c.1667G>T c.(1666-1668)GGG>GTG p.G556V C20orf26_uc010zse.1_Missense_Mutation_p.G536V NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 556 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) GAAGAACACGGGCACATGCAT 0.468 20 59 --- --- --- --- PASS CST11 140880 broad.mit.edu 37 20 23432461 23432461 + Missense_Mutation SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr20:23432461G>A uc002wtf.1 - 2 359 c.325C>T c.(325-327)CTT>TTT p.L109F CST11_uc002wtg.1_Intron NM_130794 NP_570612 Q9H112 CST11_HUMAN cystatin 11 isoform 1 precursor 109 defense response to bacterium cytoplasm|nucleus cysteine-type endopeptidase inhibitor activity 0 Colorectal(13;0.0431)|Lung NSC(19;0.235) ACCTTGTGAAGCTCCCTTTCC 0.463 7 22 --- --- --- --- PASS TMEM90B 79953 broad.mit.edu 37 20 24523810 24523810 + Missense_Mutation SNP T C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr20:24523810T>C uc002wtw.1 + 2 710 c.77T>C c.(76-78)ATT>ACT p.I26T NM_024893 NP_079169 Q9H7V2 SYNG1_HUMAN transmembrane protein 90B 26 Cytoplasmic (Potential). response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane 0 AATGGTTTAATTAACACCAGA 0.547 20 77 --- --- --- --- PASS KIAA0406 9675 broad.mit.edu 37 20 36642218 36642218 + Missense_Mutation SNP T C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr20:36642218T>C uc002xhl.2 - 3 210 c.1A>G c.(1-3)ATG>GTG p.M1V KIAA0406_uc002xhm.2_Missense_Mutation_p.M1V NM_014657 NP_055472 O43156 TTI1_HUMAN hypothetical protein LOC9675 1 binding 0 Myeloproliferative disorder(115;0.00874) AAAACTGCCATTGTGCAGCAG 0.473 33 84 --- --- --- --- PASS BPI 671 broad.mit.edu 37 20 36946843 36946843 + Missense_Mutation SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr20:36946843C>T uc002xib.2 + 6 703 c.641C>T c.(640-642)TCC>TTC p.S214F NM_001725 NP_001716 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 214 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding ovary(4) 4 Myeloproliferative disorder(115;0.00878) AATTCTGTATCCTCCGAGCTG 0.408 18 97 --- --- --- --- PASS RALGAPB 57148 broad.mit.edu 37 20 37146564 37146564 + Silent SNP C G G rs148846201 by1000genomes TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr20:37146564C>G uc002xiw.2 + 9 1595 c.1338C>G c.(1336-1338)CTC>CTG p.L446L RALGAPB_uc010zvz.1_Silent_p.L446L|RALGAPB_uc002xix.2_Silent_p.L446L|RALGAPB_uc002xiy.1_Silent_p.L446L|RALGAPB_uc002xiz.2_Silent_p.L224L|RALGAPB_uc002xja.1_Silent_p.L173L NM_020336 NP_065069 Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit 446 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity pancreas(1)|skin(1) 2 TCTTGAATCTCTTTGGATCAT 0.443 10 42 --- --- --- --- PASS ADNP 23394 broad.mit.edu 37 20 49509695 49509695 + Missense_Mutation SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr20:49509695G>A uc002xvt.1 - 5 1901 c.1556C>T c.(1555-1557)TCA>TTA p.S519L ADNP_uc002xvu.1_Missense_Mutation_p.S519L NM_015339 NP_056154 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector 519 C2H2-type 7. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 ATTGAAAGTTGAACGGCAATA 0.393 18 146 --- --- --- --- PASS PHACTR3 116154 broad.mit.edu 37 20 58330363 58330363 + Missense_Mutation SNP C T T rs145693547 TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr20:58330363C>T uc002yau.2 + 4 952 c.485C>T c.(484-486)ACG>ATG p.T162M PHACTR3_uc002yat.2_Missense_Mutation_p.T159M|PHACTR3_uc010zzw.1_Missense_Mutation_p.T121M|PHACTR3_uc002yav.2_Missense_Mutation_p.T121M|PHACTR3_uc002yaw.2_Missense_Mutation_p.T121M|PHACTR3_uc002yax.2_Missense_Mutation_p.T121M NM_080672 NP_542403 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 isoform 1 162 nuclear matrix actin binding|protein phosphatase inhibitor activity ovary(2)|pancreas(1) 3 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) GCCACTGGGACGGACCAGGTC 0.607 11 8 --- --- --- --- PASS TPTE 7179 broad.mit.edu 37 21 10906916 10906916 + Nonsense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr21:10906916C>A uc002yip.1 - 24 2013 c.1645G>T c.(1645-1647)GGA>TGA p.G549* TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Nonsense_Mutation_p.G531*|TPTE_uc002yir.1_Nonsense_Mutation_p.G511*|TPTE_uc010gkv.1_Nonsense_Mutation_p.G411* NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 549 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TAATCGGATCCAGCTACAACA 0.393 4 37 --- --- --- --- PASS TPTE 7179 broad.mit.edu 37 21 10906937 10906937 + Missense_Mutation SNP T A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr21:10906937T>A uc002yip.1 - 24 1992 c.1624A>T c.(1624-1626)ACT>TCT p.T542S TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.T524S|TPTE_uc002yir.1_Missense_Mutation_p.T504S|TPTE_uc010gkv.1_Missense_Mutation_p.T404S NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 542 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TCACTGGAAGTCATTTTCTCG 0.383 6 44 --- --- --- --- PASS KRTAP11-1 337880 broad.mit.edu 37 21 32253731 32253731 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr21:32253731C>A uc002yov.2 - 1 144 c.113G>T c.(112-114)GGC>GTC p.G38V NM_175858 NP_787054 Q8IUC1 KR111_HUMAN keratin associated protein 11-1 38 keratin filament structural molecule activity pancreas(1) 1 ACAGATGCCGCCCAGGCAGTC 0.567 7 47 --- --- --- --- PASS GART 2618 broad.mit.edu 37 21 34904752 34904752 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr21:34904752G>T uc002yrx.2 - 5 562 c.427C>A c.(427-429)CCT>ACT p.P143T GART_uc002yrz.2_Missense_Mutation_p.P143T|GART_uc010gmd.2_5'UTR|GART_uc002yry.2_Missense_Mutation_p.P143T|GART_uc002ysa.2_Missense_Mutation_p.P143T NM_000819 NP_000810 P22102 PUR2_HUMAN phosphoribosylglycinamide formyltransferase, 143 ATP (By similarity).|ATP-grasp. 'de novo' IMP biosynthetic process|purine base biosynthetic process cytosol ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding ovary(1) 1 Pemetrexed(DB00642) ACCAAAGCAGGGAAGTCTGCA 0.423 9 165 --- --- --- --- PASS DYRK1A 1859 broad.mit.edu 37 21 38877629 38877629 + Missense_Mutation SNP G C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr21:38877629G>C uc002ywk.2 + 9 1358 c.1283G>C c.(1282-1284)GGA>GCA p.G428A DYRK1A_uc002ywi.2_Missense_Mutation_p.G428A|DYRK1A_uc002ywj.2_Missense_Mutation_p.G419A|DYRK1A_uc002ywl.2_Missense_Mutation_p.G428A|DYRK1A_uc002ywm.2_Missense_Mutation_p.G428A|DYRK1A_uc011aei.1_Missense_Mutation_p.G189A NM_001396 NP_001387 Q13627 DYR1A_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 428 Protein kinase. nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation nuclear speck ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity ovary(2)|lung(1)|breast(1) 4 AACATTCTTGGAGTGGAAACA 0.453 10 33 --- --- --- --- PASS ZNF295 49854 broad.mit.edu 37 21 43412128 43412128 + Missense_Mutation SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr21:43412128G>A uc002zab.3 - 3 2291 c.2077C>T c.(2077-2079)CCA>TCA p.P693S ZNF295_uc002yzz.3_Intron|ZNF295_uc002yzy.3_Missense_Mutation_p.P693S|ZNF295_uc002zaa.3_Missense_Mutation_p.P693S NM_001098402 NP_001091872 Q9ULJ3 ZN295_HUMAN zinc finger protein 295 isoform L 693 negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|nucleus methyl-CpG binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 TTTTCTCCTGGATGCATTTTT 0.433 26 161 --- --- --- --- PASS UBASH3A 53347 broad.mit.edu 37 21 43867227 43867227 + Missense_Mutation SNP G C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr21:43867227G>C uc002zbe.2 + 15 1945 c.1909G>C c.(1909-1911)GTG>CTG p.V637L UBASH3A_uc002zbf.2_Missense_Mutation_p.V599L|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Missense_Mutation_p.W526C NM_018961 NP_061834 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing, 637 Phosphatase-like. cytosol|nucleus ovary(3) 3 ATGGGAGTTGGTGAACCCACC 0.473 31 105 --- --- --- --- PASS ITGB2 3689 broad.mit.edu 37 21 46309233 46309233 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr21:46309233C>A uc002zgd.2 - 12 1879 c.1835G>T c.(1834-1836)TGC>TTC p.C612F ITGB2_uc002zge.2_Missense_Mutation_p.C612F|ITGB2_uc002zgf.3_Missense_Mutation_p.C612F|ITGB2_uc011afl.1_Missense_Mutation_p.C534F|ITGB2_uc010gpw.2_Missense_Mutation_p.C555F|ITGB2_uc002zgg.2_Missense_Mutation_p.C612F NM_001127491 NP_001120963 P05107 ITB2_HUMAN integrin, beta 2 precursor 612 Extracellular (Potential).|Cysteine-rich tandem repeats.|IV. 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) GCACTCCTGGCACAGAGGCAG 0.672 3 13 --- --- --- --- PASS IL17RA 23765 broad.mit.edu 37 22 17583061 17583061 + Missense_Mutation SNP A T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr22:17583061A>T uc002zly.2 + 7 764 c.631A>T c.(631-633)ACC>TCC p.T211S IL17RA_uc010gqt.2_Missense_Mutation_p.T211S NM_014339 NP_055154 Q96F46 I17RA_HUMAN interleukin 17A receptor precursor 211 Extracellular (Potential). fibroblast activation|positive regulation of interleukin-23 production integral to plasma membrane interleukin-17 receptor activity skin(2) 2 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.241) CACCGTGGAGACCCTGGAGGC 0.587 5 44 --- --- --- --- PASS MYO18B 84700 broad.mit.edu 37 22 26270319 26270319 + Missense_Mutation SNP A G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr22:26270319A>G uc003abz.1 + 23 4268 c.4018A>G c.(4018-4020)ATC>GTC p.I1340V MYO18B_uc003aca.1_Missense_Mutation_p.I1221V|MYO18B_uc010guy.1_Missense_Mutation_p.I1222V|MYO18B_uc010guz.1_Missense_Mutation_p.I1221V|MYO18B_uc011aka.1_Missense_Mutation_p.I494V|MYO18B_uc011akb.1_Missense_Mutation_p.I853V NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1340 IQ. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 ATCTCAGAGCATCGTTCTCTT 0.537 18 42 --- --- --- --- PASS ASCC2 84164 broad.mit.edu 37 22 30189468 30189468 + Silent SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr22:30189468C>T uc003agr.2 - 17 1905 c.1800G>A c.(1798-1800)CAG>CAA p.Q600Q ASCC2_uc003ags.2_RNA|ASCC2_uc003agt.2_Silent_p.Q600Q|ASCC2_uc011akr.1_Silent_p.Q524Q NM_032204 NP_115580 Q9H1I8 ASCC2_HUMAN activating signal cointegrator 1 complex subunit 600 regulation of transcription, DNA-dependent|transcription, DNA-dependent 0 OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259) TCTCGCCTGGCTGCAGTGGCA 0.607 3 20 --- --- --- --- PASS SYN3 8224 broad.mit.edu 37 22 33260987 33260987 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr22:33260987G>T uc003amx.2 - 5 785 c.626C>A c.(625-627)TCT>TAT p.S209Y SYN3_uc003amy.2_Missense_Mutation_p.S209Y|SYN3_uc003amz.2_Missense_Mutation_p.S208Y NM_003490 NP_003481 O14994 SYN3_HUMAN synapsin III isoform IIIa 209 C; actin-binding and synaptic-vesicle binding. neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity skin(1) 1 AATGAGCTGAGAGAACTAGGA 0.453 7 169 --- --- --- --- PASS TST 7263 broad.mit.edu 37 22 37407247 37407247 + Missense_Mutation SNP C G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr22:37407247C>G uc003aqg.2 - 2 1415 c.715G>C c.(715-717)GAT>CAT p.D239H TST_uc003aqh.2_Missense_Mutation_p.D239H NM_003312 NP_003303 Q16762 THTR_HUMAN thiosulfate sulfurtransferase 239 Rhodanese 2. cyanate catabolic process|rRNA transport mitochondrial matrix|plasma membrane 5S rRNA binding|thiosulfate sulfurtransferase activity 0 TGCGAGAGATCCACCTTCTTG 0.607 6 11 --- --- --- --- PASS TRIOBP 11078 broad.mit.edu 37 22 38120492 38120492 + Silent SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr22:38120492C>A uc003atr.2 + 7 2200 c.1929C>A c.(1927-1929)ACC>ACA p.T643T TRIOBP_uc003atu.2_Silent_p.T471T|TRIOBP_uc003atq.1_Silent_p.T643T|TRIOBP_uc003ats.1_Silent_p.T471T NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 643 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) ACAGAACCACCCAACAAGACA 0.572 7 116 --- --- --- --- PASS PLA2G6 8398 broad.mit.edu 37 22 38524296 38524296 + Missense_Mutation SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr22:38524296G>A uc003auy.1 - 9 1464 c.1328C>T c.(1327-1329)CCG>CTG p.P443L PLA2G6_uc003auz.1_Intron|PLA2G6_uc003ava.1_Missense_Mutation_p.P443L|PLA2G6_uc003avb.2_Intron|PLA2G6_uc010gxk.1_RNA|PLA2G6_uc011ano.1_Missense_Mutation_p.P408L NM_003560 NP_003551 O60733 PA2G6_HUMAN phospholipase A2, group VI isoform a 443 cardiolipin biosynthetic process|cell death|lipid catabolic process centrosome|membrane ovary(1) 1 Melanoma(58;0.045) Quinacrine(DB01103) TAGGCTGATCGGTGGGGGCTG 0.642 21 36 --- --- --- --- PASS MGAT3 4248 broad.mit.edu 37 22 39884666 39884666 + Silent SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr22:39884666C>T uc003axv.3 + 2 1553 c.1314C>T c.(1312-1314)GGC>GGT p.G438G MGAT3_uc010gxy.2_Silent_p.G438G NM_002409 NP_002400 Q09327 MGAT3_HUMAN mannosyl (beta-1,4-)-glycoprotein 438 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity 0 Melanoma(58;0.04) CCCAGAATGGCGACTTCCCAC 0.662 13 17 --- --- --- --- PASS XPNPEP3 63929 broad.mit.edu 37 22 41318337 41318337 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr22:41318337G>T uc003azh.2 + 8 1148 c.1056G>T c.(1054-1056)AGG>AGT p.R352S XPNPEP3_uc003azi.2_Missense_Mutation_p.R273S|XPNPEP3_uc011aoy.1_RNA NM_022098 NP_071381 Q9NQH7 XPP3_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 3, 352 cellular process mitochondrion aminopeptidase activity|manganese ion binding|metallopeptidase activity 0 CCGTCCCCAGGTTCACCGCAC 0.448 22 105 --- --- --- --- PASS PPARA 5465 broad.mit.edu 37 22 46627709 46627709 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr22:46627709G>T uc003bgw.1 + 8 998 c.732G>T c.(730-732)ATG>ATT p.M244I PPARA_uc003bgx.1_Missense_Mutation_p.M244I|PPARA_uc010hab.1_Missense_Mutation_p.M244I|PPARA_uc003bhb.1_Missense_Mutation_p.M244I|PPARA_uc010hac.1_Missense_Mutation_p.M41I NM_005036 NP_005027 Q07869 PPARA_HUMAN peroxisome proliferative activated receptor, 244 fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00522) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641) TACATGATATGGAGACACTGT 0.527 5 21 --- --- --- --- PASS CELSR1 9620 broad.mit.edu 37 22 46760592 46760592 + Nonsense_Mutation SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr22:46760592G>A uc003bhw.1 - 33 8596 c.8596C>T c.(8596-8598)CAG>TAG p.Q2866* NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 2866 Cytoplasmic (Potential). central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GCCAGGCTCTGGTCGGGCCAG 0.692 6 12 --- --- --- --- PASS CELSR1 9620 broad.mit.edu 37 22 46832148 46832148 + Missense_Mutation SNP T C C rs75709433 TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr22:46832148T>C uc003bhw.1 - 4 4445 c.4445A>G c.(4444-4446)AAC>AGC p.N1482S NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 1482 Extracellular (Potential).|Laminin G-like 1. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GAAGCGGCCGTTGTAGAGAAG 0.592 13 23 --- --- --- --- PASS CSF2RA 1438 broad.mit.edu 37 X 1401640 1401640 + Missense_Mutation SNP A C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chrX:1401640A>C uc010nct.2 + 4 366 c.44A>C c.(43-45)CAC>CCC p.H15P CSF2RA_uc011mhb.1_Missense_Mutation_p.H15P|CSF2RA_uc004cpq.2_Missense_Mutation_p.H15P|CSF2RA_uc004cpn.2_Missense_Mutation_p.H15P|CSF2RA_uc004cpo.2_Missense_Mutation_p.H15P|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_5'UTR|CSF2RA_uc004cpp.2_Missense_Mutation_p.H15P|CSF2RA_uc010ncv.2_Missense_Mutation_p.H15P|CSF2RA_uc004cpr.2_Missense_Mutation_p.H15P NM_001161529 NP_001155001 P15509 CSF2R_HUMAN colony stimulating factor 2 receptor alpha chain 15 extracellular region|integral to plasma membrane cytokine receptor activity ovary(2) 2 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) GAGTTACCACACCCAGCATTC 0.522 33 199 --- --- --- --- PASS SFRS17A 8227 broad.mit.edu 37 X 1712489 1712489 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chrX:1712489C>A uc004cqa.2 + 2 330 c.134C>A c.(133-135)TCC>TAC p.S45Y SFRS17A_uc010ncx.1_Missense_Mutation_p.S45Y|SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_5'Flank NM_005088 NP_005079 Q02040 AK17A_HUMAN DNA segment on chromosome X and Y (unique) 155 45 B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction nuclear speck|spliceosomal complex nucleotide binding|protein binding|RNA binding 0 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) CCGGGGAAGTCCATCTCCAAC 0.592 26 74 --- --- --- --- PASS FAM47A 158724 broad.mit.edu 37 X 34148818 34148818 + Silent SNP C G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chrX:34148818C>G uc004ddg.2 - 1 1611 c.1578G>C c.(1576-1578)CGG>CGC p.R526R NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 526 ovary(4)|central_nervous_system(1) 5 GACTGGACGTCCGACGAGTCT 0.667 13 7 --- --- --- --- PASS FAM47A 158724 broad.mit.edu 37 X 34149076 34149076 + Silent SNP G A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chrX:34149076G>A uc004ddg.2 - 1 1353 c.1320C>T c.(1318-1320)GAC>GAT p.D440D NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 440 ovary(4)|central_nervous_system(1) 5 GATCCCATACGTCCTTCAGCG 0.557 11 11 --- --- --- --- PASS DGKK 139189 broad.mit.edu 37 X 50121135 50121135 + Nonsense_Mutation SNP T A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chrX:50121135T>A uc010njr.1 - 23 3133 c.3073A>T c.(3073-3075)AGA>TGA p.R1025* NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN diacylglycerol kinase kappa 1025 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1) 2 Ovarian(276;0.236) TTCTTGTATCTAATTTTGATA 0.493 10 34 --- --- --- --- PASS KIF4A 24137 broad.mit.edu 37 X 69626794 69626794 + Nonsense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chrX:69626794G>T uc004dyg.2 + 28 3251 c.3124G>T c.(3124-3126)GAG>TAG p.E1042* KIF4A_uc010nkw.2_Nonsense_Mutation_p.E1042* NM_012310 NP_036442 O95239 KIF4A_HUMAN kinesin family member 4 1042 Globular.|Interaction with PRC1. anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization chromosome|cytosol|midbody|nuclear matrix|spindle microtubule ATP binding|DNA binding|microtubule motor activity|protein binding ovary(4) 4 CATGGACATCGAGGATCTAAA 0.254 4 41 --- --- --- --- PASS XIST 7503 broad.mit.edu 37 X 73067615 73067615 + RNA SNP C T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chrX:73067615C>T uc004ebm.1 - 1 c.4974G>A NR_001564 Homo sapiens cDNA: FLJ21545 fis, clone COL06195. 0 CTCTGGGTTTCCAGCATCCCT 0.363 11 5 --- --- --- --- PASS PCDH11X 27328 broad.mit.edu 37 X 91456402 91456402 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chrX:91456402C>A uc004efk.1 + 3 3907 c.3062C>A c.(3061-3063)ACC>AAC p.T1021N PCDH11X_uc004efl.1_Missense_Mutation_p.T1021N|PCDH11X_uc004efo.1_Intron|PCDH11X_uc010nmv.1_Missense_Mutation_p.T1021N|PCDH11X_uc004efm.1_Missense_Mutation_p.T1021N|PCDH11X_uc004efn.1_Missense_Mutation_p.T1021N NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 1021 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 CGATCTTGCACCCCCATGAAA 0.383 11 11 --- --- --- --- PASS PCDH11X 27328 broad.mit.edu 37 X 91456403 91456403 + Silent SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chrX:91456403C>A uc004efk.1 + 3 3908 c.3063C>A c.(3061-3063)ACC>ACA p.T1021T PCDH11X_uc004efl.1_Silent_p.T1021T|PCDH11X_uc004efo.1_Intron|PCDH11X_uc010nmv.1_Silent_p.T1021T|PCDH11X_uc004efm.1_Silent_p.T1021T|PCDH11X_uc004efn.1_Silent_p.T1021T NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 1021 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 GATCTTGCACCCCCATGAAAG 0.383 11 11 --- --- --- --- PASS NRK 203447 broad.mit.edu 37 X 105149285 105149285 + Missense_Mutation SNP C G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chrX:105149285C>G uc004emd.2 + 10 1097 c.794C>G c.(793-795)GCT>GGT p.A265G NRK_uc010npc.1_5'UTR NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 265 Protein kinase. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 CCCTTGGAAGCTCTCTTCGTT 0.393 HNSCC(51;0.14) 3 10 --- --- --- --- PASS DOCK11 139818 broad.mit.edu 37 X 117749584 117749584 + Missense_Mutation SNP G C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chrX:117749584G>C uc004eqp.2 + 30 3265 c.3202G>C c.(3202-3204)GAA>CAA p.E1068Q DOCK11_uc004eqq.2_Missense_Mutation_p.E834Q NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1068 blood coagulation cytosol GTP binding ovary(3) 3 ATACAAGTTTGAATTTCTGCA 0.343 7 8 --- --- --- --- PASS DOCK11 139818 broad.mit.edu 37 X 117814528 117814528 + Silent SNP A G G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chrX:117814528A>G uc004eqp.2 + 49 5607 c.5544A>G c.(5542-5544)ACA>ACG p.T1848T DOCK11_uc004eqq.2_Silent_p.T1627T NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1848 DHR-2. blood coagulation cytosol GTP binding ovary(3) 3 AAGAACTCACAGAAAGGAAGA 0.348 66 33 --- --- --- --- PASS ZCCHC12 170261 broad.mit.edu 37 X 117959765 117959765 + Missense_Mutation SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chrX:117959765G>T uc004equ.2 + 4 1031 c.558G>T c.(556-558)AGG>AGT p.R186S NM_173798 NP_776159 Q6PEW1 ZCH12_HUMAN zinc finger, CCHC domain containing 12 186 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleic acid binding|zinc ion binding ovary(1) 1 AGCTGAGTAGGGACCTCCGAC 0.308 41 31 --- --- --- --- PASS OCRL 4952 broad.mit.edu 37 X 128696704 128696704 + Silent SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chrX:128696704G>T uc004euq.2 + 12 1350 c.1185G>T c.(1183-1185)GCG>GCT p.A395A OCRL_uc004eur.2_Silent_p.A395A NM_000276 NP_000267 Q01968 OCRL_HUMAN phosphatidylinositol polyphosphate 5-phosphatase 395 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding lung(2)|ovary(1)|kidney(1) 4 ACATTTGTGCGAGAATGAGTT 0.438 4 51 --- --- --- --- PASS AFF2 2334 broad.mit.edu 37 X 148037237 148037237 + Missense_Mutation SNP G C C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chrX:148037237G>C uc004fcp.2 + 11 2141 c.1662G>C c.(1660-1662)GAG>GAC p.E554D AFF2_uc004fcq.2_Missense_Mutation_p.E544D|AFF2_uc004fcr.2_Missense_Mutation_p.E515D|AFF2_uc011mxb.1_Missense_Mutation_p.E519D|AFF2_uc004fcs.2_Missense_Mutation_p.E521D|AFF2_uc011mxc.1_Missense_Mutation_p.E195D NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 554 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) CACCCATGGAGACTATTTCTC 0.463 71 166 --- --- --- --- PASS VAMP7 6845 broad.mit.edu 37 X 155149476 155149476 + Splice_Site SNP G T T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chrX:155149476G>T uc004fnr.2 + 6 608 c.434_splice c.e6-1 p.D145_splice VAMP7_uc004fnt.2_Splice_Site_p.D104_splice|VAMP7_uc011naa.1_Splice_Site_p.D106_splice|VAMP7_uc011nab.1_Splice_Site_p.D44_splice|VAMP7_uc004fns.2_Intron|VAMP7_uc011nac.1_Splice_Site_p.D78_splice NM_005638 NP_005629 P51809 VAMP7_HUMAN vesicle-associated membrane protein 7 isoform 1 calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane protein binding 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) AATATTTTCAGATCTGGTAGC 0.269 13 41 --- --- --- --- PASS RBMY1A1 5940 broad.mit.edu 37 Y 23702641 23702641 + Missense_Mutation SNP C A A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chrY:23702641C>A uc004fuq.3 + 4 483 c.371C>A c.(370-372)CCC>CAC p.P124H RBMY1A1_uc010nxa.2_Missense_Mutation_p.P124H|RBMY1A1_uc004fur.3_Intron|RBMY1A1_uc011nbd.1_Missense_Mutation_p.P89H NM_001006120 NP_001006120 Q15414 RBY1A_HUMAN RNA binding motif protein, Y-linked, family 1, 124 mRNA processing|RNA splicing|spermatogenesis nucleus nucleotide binding|RNA binding 0 GGGTGGCTTCCCTCACATGAA 0.433 6 83 --- --- --- --- PASS OR6N2 81442 broad.mit.edu 37 1 158747277 158747277 + Frame_Shift_Del DEL C - - TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr1:158747277delC uc010pir.1 - 1 149 c.149delG c.(148-150)CGAfs p.R50fs NM_001005278 NP_001005278 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, 50 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_hematologic(112;0.0378) TGCATCCAGTCGGATGACTGA 0.478 132 69 --- --- --- --- Unknown 0 broad.mit.edu 37 2 96525717 96525718 + RNA INS - T T rs150334322 by1000genomes TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr2:96525717_96525718insT uc002sva.1 - 41 c.2149_2150insA uc002suz.1_Frame_Shift_Ins_p.L290fs|uc002svb.1_Frame_Shift_Ins_p.L290fs Homo sapiens cDNA FLJ41632 fis, clone FCBBF1000297, highly similar to Human protein immuno-reactive with anti-PTH polyclonal antibodies mRNA. CTTATTTTTCAGTTTTCGAATT 0.282 3 4 --- --- --- --- ITIH3 3699 broad.mit.edu 37 3 52831910 52831910 + Frame_Shift_Del DEL G - - TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr3:52831910delG uc003dfv.2 + 6 663 c.627delG c.(625-627)CTGfs p.L209fs ITIH3_uc011bek.1_Frame_Shift_Del_p.L209fs NM_002217 NP_002208 Q06033 ITIH3_HUMAN inter-alpha (globulin) inhibitor H3 209 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|liver(1) 3 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) ACGACCTCCTGGGAAGCGCCC 0.527 11 11 --- --- --- --- HTRA3 94031 broad.mit.edu 37 4 8271798 8271799 + Frame_Shift_Del DEL CC - - TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr4:8271798_8271799delCC uc003gla.2 + 1 307_308 c.103_104delCC c.(103-105)CCCfs p.P35fs HTRA3_uc003gkz.2_Frame_Shift_Del_p.P35fs NM_053044 NP_444272 P83110 HTRA3_HUMAN HtrA serine peptidase 3 precursor 35 IGFBP N-terminal. proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity ovary(1) 1 GTCGCGGTGTCCCAGCCCCCGC 0.787 4 2 --- --- --- --- VPS13A 23230 broad.mit.edu 37 9 79983004 79983004 + Frame_Shift_Del DEL T - - TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr9:79983004delT uc004akr.2 + 62 8765 c.8505delT c.(8503-8505)CATfs p.H2835fs VPS13A_uc004akp.3_Frame_Shift_Del_p.H2835fs|VPS13A_uc004akq.3_Frame_Shift_Del_p.H2835fs|VPS13A_uc004aks.2_Frame_Shift_Del_p.H2796fs NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 2835 Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 ATCAGTTCCATACAACATCCG 0.323 4 2 --- --- --- --- TAS2R7 50837 broad.mit.edu 37 12 10954482 10954482 + Frame_Shift_Del DEL G - - TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr12:10954482delG uc001qyv.2 - 1 745 c.688delC c.(688-690)CATfs p.H230fs NM_023919 NP_076408 Q9NYW3 TA2R7_HUMAN taste receptor, type 2, member 7 230 Cytoplasmic (Potential). sensory perception of taste integral to membrane taste receptor activity skin(1) 1 GCTCTCACATGGGCTTCTGTG 0.507 19 9 --- --- --- --- Unknown 0 broad.mit.edu 37 14 87372333 87372334 + RNA INS - CT CT rs145921920 by1000genomes TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr14:87372333_87372334insCT uc001xvs.2 + 1 c.209_210insCT Homo sapiens cDNA clone IMAGE:4821442. cacgctgtcacctcGTCTCTAC 0.188 4 2 --- --- --- --- TEX14 56155 broad.mit.edu 37 17 56677004 56677004 + Frame_Shift_Del DEL C - - TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr17:56677004delC uc010dcz.1 - 14 1838 c.1720delG c.(1720-1722)GTTfs p.V574fs TEX14_uc002iwr.1_Frame_Shift_Del_p.V568fs|TEX14_uc002iws.1_Frame_Shift_Del_p.V568fs|TEX14_uc010dda.1_Frame_Shift_Del_p.V348fs NM_198393 NP_938207 Q8IWB6 TEX14_HUMAN testis expressed sequence 14 isoform a 574 cytoplasm ATP binding|protein kinase activity stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1) 17 Medulloblastoma(34;0.127)|all_neural(34;0.237) AAAGAGTGAACCCTTGGTGAA 0.463 34 26 --- --- --- --- Unknown 0 broad.mit.edu 37 19 47141417 47141417 + RNA DEL G - - TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr19:47141417delG uc002pez.1 - 1 c.1002delC Homo sapiens cDNA FLJ10148 fis, clone HEMBA1003370. TCCCACATACGGTCTCTCAAT 0.547 7 4 --- --- --- --- MFNG 4242 broad.mit.edu 37 22 37875441 37875441 + Frame_Shift_Del DEL C - - TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f0e482e-e72d-4c57-b4f7-4580edabd390 b7b6806b-f8ad-480b-9309-522ca8dde2bf g.chr22:37875441delC uc003ass.1 - 4 673 c.503delG c.(502-504)GGAfs p.G168fs MFNG_uc011ani.1_Frame_Shift_Del_p.G46fs|MFNG_uc011anj.1_Frame_Shift_Del_p.G154fs|CARD10_uc003ast.1_RNA NM_002405 NP_002396 O00587 MFNG_HUMAN O-fucosylpeptide 168 Lumenal (Potential). pattern specification process extracellular space|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity lung(1) 1 Melanoma(58;0.0574) GCTGGGCCTTCCCACATAGAC 0.632 26 20 --- --- --- ---