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 CCDC27 148870 broad.mit.edu 37 1 3669365 3669365 + Splice_Site SNP T C C rs149388135 TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:3669365T>C uc001akv.2 + 1 399 c.318_splice c.e1+2 p.T106_splice NM_152492 NP_689705 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 skin(1) 1 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) AGGAAGACGGTATGGGGTCCC 0.617 6 10 --- --- --- --- PASS AJAP1 55966 broad.mit.edu 37 1 4834552 4834552 + Missense_Mutation SNP C G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:4834552C>G uc001alm.1 + 5 1610 c.1229C>G c.(1228-1230)TCC>TGC p.S410C AJAP1_uc001aln.2_Missense_Mutation_p.S410C NM_001042478 NP_001035943 Q9UKB5 AJAP1_HUMAN adherens junction associated protein 1 410 Targeting signals.|Cytoplasmic (Potential). cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane lung(1) 1 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) TTTGAAATCTCCTGCTGACTG 0.517 31 104 --- --- --- --- PASS VPS13D 55187 broad.mit.edu 37 1 12383778 12383778 + Missense_Mutation SNP G C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:12383778G>C uc001atv.2 + 35 8072 c.7931G>C c.(7930-7932)AGG>ACG p.R2644T VPS13D_uc001atw.2_Missense_Mutation_p.R2644T|VPS13D_uc001atx.2_Missense_Mutation_p.R1832T|VPS13D_uc001aty.1_Missense_Mutation_p.R382T NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 2644 UBA. protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CAGCTGGCTAGGCTGCAGGAG 0.328 9 184 --- --- --- --- PASS FUCA1 2517 broad.mit.edu 37 1 24192068 24192068 + Missense_Mutation SNP G C C rs2228424 byFrequency TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:24192068G>C uc001bie.2 - 2 482 c.437C>G c.(436-438)CCG>CGG p.P146R FUCA1_uc009vqt.1_RNA|FUCA1_uc010oed.1_RNA NM_000147 NP_000138 P04066 FUCO_HUMAN fucosidase, alpha-L-1, tissue precursor 146 fucose metabolic process|glycosaminoglycan catabolic process lysosome alpha-L-fucosidase activity|cation binding breast(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144) CACAGGACTCGGCCAGTTTGT 0.512 29 95 --- --- --- --- PASS MYOM3 127294 broad.mit.edu 37 1 24384007 24384007 + Silent SNP C G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:24384007C>G uc001bin.3 - 37 4324 c.4161G>C c.(4159-4161)GGG>GGC p.G1387G MYOM3_uc001bil.3_Silent_p.G280G|MYOM3_uc001bim.3_Silent_p.G1044G NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN myomesin family, member 3 1387 Ig-like C2-type 4. skin(2)|ovary(1) 3 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) TGACCTCTGTCCCCCTCACTT 0.557 52 21 --- --- --- --- PASS CSMD2 114784 broad.mit.edu 37 1 34035025 34035025 + Missense_Mutation SNP G C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:34035025G>C uc001bxn.1 - 53 8115 c.8086C>G c.(8086-8088)CGT>GGT p.R2696G CSMD2_uc001bxm.1_Missense_Mutation_p.R2694G NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2696 Sushi 17.|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) ATGCACTCACGCACCCTGGAG 0.572 34 34 --- --- --- --- PASS ZMYM1 79830 broad.mit.edu 37 1 35578967 35578967 + Missense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:35578967G>T uc001bym.2 + 11 1684 c.1536G>T c.(1534-1536)AAG>AAT p.K512N ZMYM1_uc001byn.2_Missense_Mutation_p.K512N|ZMYM1_uc010ohu.1_Missense_Mutation_p.K493N|ZMYM1_uc001byo.2_Missense_Mutation_p.K152N|ZMYM1_uc009vut.2_Missense_Mutation_p.K437N NM_024772 NP_079048 Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM domain containing 1 512 TTF-type. nucleus nucleic acid binding|protein dimerization activity|zinc ion binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AATTCAGAAAGCATGAAAAAA 0.363 9 186 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39757596 39757596 + Silent SNP A T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:39757596A>T uc010ois.1 + 17 2020 c.1815A>T c.(1813-1815)CGA>CGT p.R605R MACF1_uc001cda.1_Silent_p.R513R NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 605 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) AACTGGAGCGAGCAGAGTGGG 0.448 34 12 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39823278 39823278 + Missense_Mutation SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:39823278C>A uc010oiu.1 + 9 7107 c.6976C>A c.(6976-6978)CAT>AAT p.H2326N MACF1_uc010ois.1_Missense_Mutation_p.H1824N|MACF1_uc001cda.1_Missense_Mutation_p.H1732N|MACF1_uc001cdc.1_Missense_Mutation_p.H911N|MACF1_uc001cdb.1_Missense_Mutation_p.H911N NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 3891 Spectrin 1. 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) TCTGCAGGATCATAAAGAGTT 0.502 5 47 --- --- --- --- PASS PTCH2 8643 broad.mit.edu 37 1 45291982 45291982 + Silent SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:45291982G>A uc010olf.1 - 19 3066 c.3054C>T c.(3052-3054)CCC>CCT p.P1018P PTCH2_uc010olg.1_Silent_p.P716P NM_003738 NP_003729 Q9Y6C5 PTC2_HUMAN patched 2 1018 Helical; (Potential). protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1) 18 Acute lymphoblastic leukemia(166;0.155) GGATCACCACGGGGATGGCAC 0.582 Basal_Cell_Nevus_syndrome 20 51 --- --- --- --- PASS CDCP2 200008 broad.mit.edu 37 1 54610420 54610420 + Missense_Mutation SNP A G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:54610420A>G uc001cwv.1 - 2 994 c.146T>C c.(145-147)CTG>CCG p.L49P NM_201546 NP_963840 Q5VXM1 CDCP2_HUMAN CUB domain containing protein 2 precursor 49 CUB 1. extracellular region ovary(1) 1 GTAGGGGTACAGTCTAGGGAA 0.567 9 15 --- --- --- --- PASS LEPR 3953 broad.mit.edu 37 1 66036306 66036306 + Missense_Mutation SNP A T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:66036306A>T uc001dci.2 + 4 393 c.191A>T c.(190-192)TAT>TTT p.Y64F LEPR_uc001dcg.2_Missense_Mutation_p.Y64F|LEPR_uc001dch.2_Missense_Mutation_p.Y64F|LEPR_uc009waq.2_Missense_Mutation_p.Y64F|LEPR_uc001dcj.2_Missense_Mutation_p.Y64F|LEPR_uc001dck.2_Missense_Mutation_p.Y64F NM_002303 NP_002294 P48357 LEPR_HUMAN leptin receptor isoform 1 64 Extracellular (Potential). energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) AATGGACATTATGAGACAGCT 0.383 33 59 --- --- --- --- PASS NEGR1 257194 broad.mit.edu 37 1 72748157 72748157 + Silent SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:72748157C>A uc001dfw.2 - 1 121 c.21G>T c.(19-21)GTG>GTT p.V7V NEGR1_uc010oqs.1_Silent_p.V7V NM_173808 NP_776169 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 precursor 7 cell adhesion anchored to membrane|plasma membrane ovary(1) 1 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) AAGCACCCTGCACCAACAGCA 0.642 3 33 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75037348 75037348 + Missense_Mutation SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:75037348G>A uc001dgg.2 - 14 4265 c.4046C>T c.(4045-4047)ACG>ATG p.T1349M NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 1349 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 TGTTTCTGCCGTTTCACCACC 0.532 32 67 --- --- --- --- PASS AK5 26289 broad.mit.edu 37 1 77987624 77987624 + Missense_Mutation SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:77987624G>A uc001dhn.2 + 12 1681 c.1424G>A c.(1423-1425)CGC>CAC p.R475H AK5_uc001dho.2_Missense_Mutation_p.R449H NM_174858 NP_777283 Q9Y6K8 KAD5_HUMAN adenylate kinase 5 isoform 1 475 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity skin(1) 1 GAGTTCGGACGCAGGGTGAGT 0.527 19 31 --- --- --- --- PASS GIPC2 54810 broad.mit.edu 37 1 78511862 78511862 + Silent SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:78511862C>A uc001dik.2 + 1 274 c.84C>A c.(82-84)GGC>GGA p.G28G NM_017655 NP_060125 Q8TF65 GIPC2_HUMAN PDZ domain protein GIPC2 28 cytoplasm ovary(1) 1 CGGGCGCGGGCGGCGGGAGCC 0.721 3 2 --- --- --- --- PASS CDC14A 8556 broad.mit.edu 37 1 100819406 100819406 + Missense_Mutation SNP A T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:100819406A>T uc001dtg.3 + 2 626 c.138A>T c.(136-138)GAA>GAT p.E46D CDC14A_uc009web.2_Intron|CDC14A_uc010oui.1_5'UTR|CDC14A_uc001dte.3_Missense_Mutation_p.E46D|CDC14A_uc001dtf.2_Missense_Mutation_p.E46D|CDC14A_uc009wed.1_5'UTR|CDC14A_uc009wee.2_Missense_Mutation_p.E46D|CDC14A_uc009wec.1_Missense_Mutation_p.E46D NM_003672 NP_003663 Q9UNH5 CC14A_HUMAN CDC14 homolog A isoform 1 46 A. cell cycle|cell division|cell proliferation centrosome|nucleus|spindle protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity large_intestine(1) 1 all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001) Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241) TGGTCTATGAAAAGTAAGTTT 0.363 8 6 --- --- --- --- PASS CELSR2 1952 broad.mit.edu 37 1 109810620 109810620 + Missense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:109810620G>T uc001dxa.3 + 17 6317 c.6256G>T c.(6256-6258)GCC>TCC p.A2086S NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 2086 Extracellular (Potential). dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GCGGCTGCTGGCCCACGAGAG 0.657 14 23 --- --- --- --- PASS SLC22A15 55356 broad.mit.edu 37 1 116519279 116519279 + Missense_Mutation SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:116519279G>A uc001egb.3 + 1 161 c.31G>A c.(31-33)GGG>AGG p.G11R SLC22A15_uc001ega.2_Missense_Mutation_p.G11R NM_018420 NP_060890 Q8IZD6 S22AF_HUMAN solute carrier family 22, member 15 11 ion transport integral to membrane transmembrane transporter activity large_intestine(2) 2 Lung SC(450;0.184) all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) CCAGGCGGTGGGGGAGATGGG 0.711 8 22 --- --- --- --- PASS RPRD2 23248 broad.mit.edu 37 1 150444718 150444718 + Missense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:150444718G>T uc009wlr.2 + 11 3495 c.3294G>T c.(3292-3294)ATG>ATT p.M1098I RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.3_Missense_Mutation_p.M1072I NM_015203 NP_056018 Q5VT52 RPRD2_HUMAN Regulation of nuclear pre-mRNA domain containing 1098 protein binding ovary(1) 1 ATAGGAGGATGTCAGGGGAGC 0.542 18 26 --- --- --- --- PASS ADAMTSL4 54507 broad.mit.edu 37 1 150526475 150526475 + Silent SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:150526475C>A uc001eux.2 + 6 1244 c.1008C>A c.(1006-1008)GGC>GGA p.G336G ADAMTSL4_uc001euw.2_Silent_p.G336G|ADAMTSL4_uc009wlw.2_Silent_p.G336G|ADAMTSL4_uc010pcg.1_Silent_p.G336G NM_019032 NP_061905 Q6UY14 ATL4_HUMAN thrombospondin repeat containing 1 isoform 1 336 apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding ovary(1)|skin(1) 2 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) AGCACCCGGGCGCCTGGCTGC 0.692 23 23 --- --- --- --- PASS ATP8B2 57198 broad.mit.edu 37 1 154316910 154316910 + Missense_Mutation SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:154316910C>T uc001fex.2 + 20 2174 c.2174C>T c.(2173-2175)ACG>ATG p.T725M NM_020452 NP_065185 P98198 AT8B2_HUMAN ATPase, class I, type 8B, member 2 isoform a 711 Cytoplasmic (Potential). ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(1)|skin(1) 2 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) AAGATGCTGACGGATGACATG 0.562 90 142 --- --- --- --- PASS BCAN 63827 broad.mit.edu 37 1 156622070 156622070 + Missense_Mutation SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:156622070C>A uc001fpp.2 + 8 1664 c.1328C>A c.(1327-1329)ACG>AAG p.T443K BCAN_uc001fpo.2_Missense_Mutation_p.T443K NM_021948 NP_068767 Q96GW7 PGCB_HUMAN brevican isoform 1 443 Glu-rich. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding ovary(1)|pancreas(1) 2 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GTACCGCCCACGGGGTTCTCA 0.333 75 71 --- --- --- --- PASS NES 10763 broad.mit.edu 37 1 156639207 156639207 + Missense_Mutation SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:156639207C>A uc001fpq.2 - 4 4906 c.4773G>T c.(4771-4773)TGG>TGT p.W1591C NM_006617 NP_006608 P48681 NEST_HUMAN nestin 1591 Tail. TSW -> RSS (in Ref. 1; CAA46780). brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GAGCCCCTGCCCAAGAGGTCT 0.587 85 59 --- --- --- --- PASS OR6N1 128372 broad.mit.edu 37 1 158735905 158735905 + Missense_Mutation SNP T A A rs75984757 byFrequency TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:158735905T>A uc010piq.1 - 1 568 c.568A>T c.(568-570)ACT>TCT p.T190S NM_001005185 NP_001005185 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, 190 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) GACGTATCAGTGCAAGCCAAA 0.453 96 130 --- --- --- --- PASS FCRLA 84824 broad.mit.edu 37 1 161680553 161680553 + Missense_Mutation SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:161680553C>A uc001gbe.2 + 3 394 c.152C>A c.(151-153)GCC>GAC p.A51D FCRLA_uc001gbd.2_Missense_Mutation_p.A45D|FCRLA_uc001gbf.2_Missense_Mutation_p.A45D|FCRLA_uc001gbg.2_Intron|FCRLA_uc009wuo.2_Intron|FCRLA_uc009wup.2_Missense_Mutation_p.A45D|FCRLA_uc009wuq.2_Intron NM_032738 NP_116127 Q7L513 FCRLA_HUMAN Fc receptor-like and mucin-like 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell differentiation cytoplasm|extracellular region 0 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) TCTTCAGCTGCCAGTTTTGAG 0.532 54 61 --- --- --- --- PASS C1orf110 339512 broad.mit.edu 37 1 162829412 162829412 + Missense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:162829412G>T uc001gck.2 - 2 200 c.25C>A c.(25-27)CAA>AAA p.Q9K C1orf110_uc009wux.1_Missense_Mutation_p.Q9K NM_178550 NP_848645 Q86UF4 CA110_HUMAN hypothetical protein LOC339512 9 0 TTATACAATTGTCCCCTGACC 0.443 47 52 --- --- --- --- PASS RGS5 8490 broad.mit.edu 37 1 163117197 163117197 + Missense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:163117197G>T uc001gcn.2 - 5 728 c.481C>A c.(481-483)CTG>ATG p.L161M RGS5_uc009wvb.2_RNA NM_003617 NP_003608 O15539 RGS5_HUMAN regulator of G-protein signalling 5 161 RGS. negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|plasma membrane GTPase activator activity|signal transducer activity 0 LUSC - Lung squamous cell carcinoma(543;0.187) TTTTCCATCAGGGCATGGATT 0.443 101 106 --- --- --- --- PASS RXRG 6258 broad.mit.edu 37 1 165398161 165398161 + Missense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:165398161G>T uc001gda.2 - 2 392 c.92C>A c.(91-93)GCA>GAA p.A31E NM_006917 NP_008848 P48443 RXRG_HUMAN retinoid X receptor, gamma isoform a 31 Modulating (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding 0 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) GGACAAGGCTGCTGATGGGCT 0.587 54 85 --- --- --- --- PASS TNR 7143 broad.mit.edu 37 1 175372337 175372337 + Silent SNP T C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:175372337T>C uc001gkp.1 - 2 996 c.915A>G c.(913-915)GGA>GGG p.G305G TNR_uc009wwu.1_Silent_p.G305G|TNR_uc010pmz.1_Silent_p.G305G NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 305 Cys-rich. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) CCTCACATTGTCCTCGCCCAC 0.617 66 78 --- --- --- --- PASS SMG7 9887 broad.mit.edu 37 1 183497094 183497094 + Missense_Mutation SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:183497094G>A uc001gqg.2 + 6 610 c.488G>A c.(487-489)CGA>CAA p.R163Q SMG7_uc010pob.1_Missense_Mutation_p.R192Q|SMG7_uc001gqf.2_Missense_Mutation_p.R163Q|SMG7_uc001gqh.2_Missense_Mutation_p.R163Q|SMG7_uc001gqi.2_Missense_Mutation_p.R121Q|SMG7_uc010poc.1_Missense_Mutation_p.R121Q NM_173156 NP_775179 Q92540 SMG7_HUMAN SMG-7 homolog isoform 1 163 TPR 1. R->E: Abolishes interaction with UPF1; when associated with E-66. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 TTCTTAGCTCGATACAGAAAC 0.403 4 99 --- --- --- --- PASS TPR 7175 broad.mit.edu 37 1 186316424 186316424 + Missense_Mutation SNP C G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:186316424C>G uc001grv.2 - 22 3240 c.2943G>C c.(2941-2943)CAG>CAC p.Q981H NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 981 Potential. carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) TTATACATACCTGTTTTTCCT 0.333 T NTRK1 papillary thyroid 66 117 --- --- --- --- PASS CDC73 79577 broad.mit.edu 37 1 193218893 193218893 + Missense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:193218893G>T uc001gtb.2 + 16 1694 c.1451G>T c.(1450-1452)CGT>CTT p.R484L NM_024529 NP_078805 Q6P1J9 CDC73_HUMAN parafibromin 484 cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent Cdc73/Paf1 complex protein binding parathyroid(46)|ovary(1)|breast(1)|pancreas(1) 49 GATGAAGTTCGTCTGGATCCA 0.338 Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome 39 25 --- --- --- --- PASS KCNT2 343450 broad.mit.edu 37 1 196303136 196303136 + Missense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:196303136G>T uc001gtd.1 - 17 1898 c.1838C>A c.(1837-1839)ACC>AAC p.T613N KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.T563N|KCNT2_uc001gtf.1_Missense_Mutation_p.T613N|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.T613N|KCNT2_uc001gth.1_Missense_Mutation_p.T134N NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 613 Cytoplasmic (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 AAGAGACAGGGTAGGGCCACT 0.398 5 113 --- --- --- --- PASS CFHR5 81494 broad.mit.edu 37 1 196963327 196963327 + Missense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:196963327G>T uc001gts.3 + 4 676 c.548G>T c.(547-549)GGA>GTA p.G183V NM_030787 NP_110414 Q9BXR6 FHR5_HUMAN complement factor H-related 5 precursor 183 Sushi 3. complement activation, alternative pathway extracellular region breast(1)|skin(1) 2 ATAAGAGTTGGATCAGACTCA 0.353 133 152 --- --- --- --- PASS KIF14 9928 broad.mit.edu 37 1 200550341 200550341 + Missense_Mutation SNP T C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:200550341T>C uc010ppk.1 - 20 3762 c.3323A>G c.(3322-3324)TAT>TGT p.Y1108C KIF14_uc010ppj.1_Missense_Mutation_p.Y617C NM_014875 NP_055690 Q15058 KIF14_HUMAN kinesin family member 14 1108 Required for CIT-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding breast(3)|ovary(2)|skin(2) 7 GCCAAAAACATAGTATGTTTT 0.294 104 46 --- --- --- --- PASS PPP1R15B 84919 broad.mit.edu 37 1 204380189 204380189 + Silent SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:204380189G>A uc001hav.3 - 1 756 c.351C>T c.(349-351)GCC>GCT p.A117A NM_032833 NP_116222 Q5SWA1 PR15B_HUMAN protein phosphatase 1, regulatory subunit 15B 117 regulation of translation ovary(1)|pancreas(1) 2 all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227) all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139) GCGCTGTGGGGGCGGCTGGTT 0.577 98 198 --- --- --- --- PASS LRRN2 10446 broad.mit.edu 37 1 204588804 204588804 + Missense_Mutation SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:204588804G>A uc001hbe.1 - 3 705 c.317C>T c.(316-318)TCG>TTG p.S106L MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.S106L|LRRN2_uc009xbf.1_Missense_Mutation_p.S106L|MDM4_uc001hbc.2_Intron NM_006338 NP_006329 O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 precursor 106 LRR 2.|Extracellular (Potential). cell adhesion integral to membrane receptor activity central_nervous_system(2) 2 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) TCGGGCATCCGAAAAGCTGTT 0.602 123 160 --- --- --- --- PASS C1orf186 440712 broad.mit.edu 37 1 206239444 206239444 + Missense_Mutation SNP T A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:206239444T>A uc001hdt.1 - 6 1093 c.454A>T c.(454-456)AGT>TGT p.S152C NM_001007544 NP_001007545 Q6ZWK4 CA186_HUMAN hypothetical protein LOC440712 152 integral to membrane 0 BRCA - Breast invasive adenocarcinoma(75;0.0754) TACCAGAAACTGGGCTTGTGT 0.418 63 20 --- --- --- --- PASS FAM71A 149647 broad.mit.edu 37 1 212798339 212798339 + Missense_Mutation SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:212798339C>A uc001hjk.2 + 1 524 c.120C>A c.(118-120)TTC>TTA p.F40L uc010pth.1_Intron NM_153606 NP_705834 Q8IYT1 FA71A_HUMAN hypothetical protein LOC149647 40 skin(3)|ovary(1)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) ACGATATATTCAAGTATGCAC 0.493 109 46 --- --- --- --- PASS TGFB2 7042 broad.mit.edu 37 1 218607483 218607483 + Silent SNP G C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:218607483G>C uc001hlm.2 + 3 1223 c.570G>C c.(568-570)GTG>GTC p.V190V TGFB2_uc001hln.2_Silent_p.V218V|TGFB2_uc010pue.1_RNA|TGFB2_uc001hlo.2_RNA NM_003238 NP_003229 P61812 TGFB2_HUMAN transforming growth factor, beta 2 isoform 2 190 activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding 0 all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776) GCAAAGTTGTGAAAACAAGAG 0.453 56 282 --- --- --- --- PASS NVL 4931 broad.mit.edu 37 1 224420909 224420909 + Missense_Mutation SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:224420909C>T uc001hok.2 - 21 2492 c.2449G>A c.(2449-2451)GAA>AAA p.E817K NVL_uc001hol.2_Missense_Mutation_p.E711K|NVL_uc010pvd.1_Missense_Mutation_p.E726K|NVL_uc010pve.1_Missense_Mutation_p.E628K|NVL_uc010pvf.1_RNA NM_002533 NP_002524 O15381 NVL_HUMAN nuclear VCP-like isoform 1 817 aggresome|cytoplasm|nucleolus ATP binding|nucleoside-triphosphatase activity skin(2) 2 GBM - Glioblastoma multiforme(131;0.00501) GTACCTTTTTCATTTCCACTC 0.383 14 119 --- --- --- --- PASS ZNF695 57116 broad.mit.edu 37 1 247151459 247151459 + Missense_Mutation SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:247151459C>T uc009xgu.2 - 4 503 c.358G>A c.(358-360)GAG>AAG p.E120K ZNF695_uc001ica.2_RNA|ZNF695_uc001icb.1_RNA|ZNF695_uc009xgt.1_RNA|ZNF695_uc001ibx.2_Missense_Mutation_p.E120K|ZNF695_uc001iby.2_Intron|ZNF695_uc001icc.2_Missense_Mutation_p.E108K NM_020394 NP_065127 Q8IW36 ZN695_HUMAN zinc finger protein SBZF3 120 regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 all_cancers(71;4.01e-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) CGTAATTTCTCAAGACAACAT 0.408 6 375 --- --- --- --- PASS NLRP3 114548 broad.mit.edu 37 1 247599379 247599379 + Missense_Mutation SNP A T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:247599379A>T uc001icr.2 + 8 2744 c.2606A>T c.(2605-2607)GAC>GTC p.D869V NLRP3_uc001ics.2_Intron|NLRP3_uc001icu.2_Missense_Mutation_p.D869V|NLRP3_uc001icw.2_Missense_Mutation_p.D812V|NLRP3_uc001icv.2_Intron|NLRP3_uc010pyw.1_Missense_Mutation_p.D847V NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 869 LRR 5. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) GCCTTGGGAGACTCAGGAGTC 0.473 24 88 --- --- --- --- PASS TRIM58 25893 broad.mit.edu 37 1 248028112 248028112 + Nonsense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:248028112G>T uc001ido.2 + 3 670 c.622G>T c.(622-624)GAG>TAG p.E208* NM_015431 NP_056246 Q8NG06 TRI58_HUMAN tripartite motif-containing 58 208 Potential. intracellular zinc ion binding skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1) 7 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GGAGGCGGAGGAGCGAGCGAC 0.632 25 58 --- --- --- --- PASS OR2L2 26246 broad.mit.edu 37 1 248202041 248202041 + Missense_Mutation SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:248202041C>T uc001idw.2 + 1 568 c.472C>T c.(472-474)CAC>TAC p.H158Y OR2L13_uc001ids.2_Intron NM_001004686 NP_001004686 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, 158 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CTCTTGTGCTCACACAGTATA 0.428 152 66 --- --- --- --- PASS OR2T3 343173 broad.mit.edu 37 1 248637193 248637193 + Missense_Mutation SNP G C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:248637193G>C uc001iel.1 + 1 542 c.542G>C c.(541-543)AGT>ACT p.S181T NM_001005495 NP_001005495 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, 181 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AAAATCCTGAGTTTTTTCTGT 0.522 154 63 --- --- --- --- PASS OR2G6 391211 broad.mit.edu 37 1 248685741 248685741 + Missense_Mutation SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:248685741G>A uc001ien.1 + 1 794 c.794G>A c.(793-795)AGG>AAG p.R265K NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 265 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCGGCCAATAGGAGATCCAAA 0.443 25 139 --- --- --- --- PASS OR14I1 401994 broad.mit.edu 37 1 248845393 248845393 + Nonsense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:248845393G>T uc001ieu.1 - 1 213 c.213C>A c.(211-213)TAC>TAA p.Y71* NM_001004734 NP_001004734 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, 71 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TGACTGAGATGTAGCACAGAT 0.478 30 22 --- --- --- --- PASS ACP1 52 broad.mit.edu 37 2 272235 272235 + Missense_Mutation SNP G C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr2:272235G>C uc002qwg.2 + 3 257 c.161G>C c.(160-162)CGG>CCG p.R54P ACP1_uc002qwd.2_Missense_Mutation_p.G106R|ACP1_uc002qwe.3_RNA|ACP1_uc002qwh.2_RNA|ACP1_uc002qwf.2_Intron NM_007099 NP_009030 P24666 PPAC_HUMAN acid phosphatase 1, soluble isoform b 54 cytoplasm|internal side of plasma membrane|nucleus|soluble fraction acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity skin(1) 1 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236) all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127) AACGTGGGCCGGTCCCCAGAC 0.502 8 16 --- --- --- --- PASS ACP1 52 broad.mit.edu 37 2 272236 272236 + Silent SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr2:272236G>T uc002qwg.2 + 3 258 c.162G>T c.(160-162)CGG>CGT p.R54R ACP1_uc002qwd.2_Missense_Mutation_p.G106V|ACP1_uc002qwe.3_RNA|ACP1_uc002qwh.2_RNA|ACP1_uc002qwf.2_Intron NM_007099 NP_009030 P24666 PPAC_HUMAN acid phosphatase 1, soluble isoform b 54 cytoplasm|internal side of plasma membrane|nucleus|soluble fraction acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity skin(1) 1 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236) all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127) ACGTGGGCCGGTCCCCAGACC 0.498 7 16 --- --- --- --- PASS MYT1L 23040 broad.mit.edu 37 2 1947066 1947066 + Missense_Mutation SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr2:1947066C>A uc002qxe.2 - 9 1020 c.193G>T c.(193-195)GAT>TAT p.D65Y MYT1L_uc002qxd.2_Missense_Mutation_p.D65Y NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 65 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) GGCTGTTTATCTTGTGTTTTT 0.418 11 2 --- --- --- --- PASS EHD3 30845 broad.mit.edu 37 2 31467261 31467261 + Missense_Mutation SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr2:31467261G>A uc002rnu.2 + 2 957 c.349G>A c.(349-351)GAT>AAT p.D117N EHD3_uc010ymt.1_Missense_Mutation_p.D117N NM_014600 NP_055415 Q9NZN3 EHD3_HUMAN EH-domain containing 3 117 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) CCTGGTGGTGGATCCCAAGAA 0.552 47 28 --- --- --- --- PASS FAM98A 25940 broad.mit.edu 37 2 33810284 33810284 + Silent SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr2:33810284C>T uc002rpa.1 - 8 1190 c.1116G>A c.(1114-1116)GGG>GGA p.G372G FAM98A_uc010yne.1_Silent_p.G177G|FAM98A_uc010ynd.1_Silent_p.G203G|FAM98A_uc002roz.1_Silent_p.G210G NM_015475 NP_056290 Q8NCA5 FA98A_HUMAN hypothetical protein LOC25940 373 Gly-rich. ovary(1) 1 all_hematologic(175;0.115) CTCTTCCTCCCCCTCGGCCAC 0.562 16 134 --- --- --- --- PASS SOS1 6654 broad.mit.edu 37 2 39250233 39250233 + Missense_Mutation SNP T A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr2:39250233T>A uc002rrk.3 - 10 1377 c.1336A>T c.(1336-1338)ATG>TTG p.M446L SOS1_uc010ynr.1_RNA|SOS1_uc002rrj.3_Missense_Mutation_p.M60L|SOS1_uc002rrl.2_Missense_Mutation_p.M178L NM_005633 NP_005624 Q07889 SOS1_HUMAN son of sevenless homolog 1 446 PH. 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) GTTCCTTCCATTATAAATTCA 0.388 Noonan_syndrome 57 122 --- --- --- --- PASS DYSF 8291 broad.mit.edu 37 2 71892406 71892406 + Missense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr2:71892406G>T uc002sie.2 + 46 5548 c.5172G>T c.(5170-5172)CAG>CAT p.Q1724H DYSF_uc010feg.2_Missense_Mutation_p.Q1755H|DYSF_uc010feh.2_Missense_Mutation_p.Q1731H|DYSF_uc002sig.3_Missense_Mutation_p.Q1710H|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.Q1745H|DYSF_uc010fef.2_Missense_Mutation_p.Q1762H|DYSF_uc010fei.2_Missense_Mutation_p.Q1741H|DYSF_uc010fek.2_Missense_Mutation_p.Q1742H|DYSF_uc010fej.2_Missense_Mutation_p.Q1732H|DYSF_uc010fel.2_Missense_Mutation_p.Q1711H|DYSF_uc010feo.2_Missense_Mutation_p.Q1756H|DYSF_uc010fem.2_Missense_Mutation_p.Q1746H|DYSF_uc010fen.2_Missense_Mutation_p.Q1763H|DYSF_uc002sif.2_Missense_Mutation_p.Q1725H|DYSF_uc010yqy.1_Missense_Mutation_p.Q605H|DYSF_uc010yqz.1_Missense_Mutation_p.Q485H NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 1724 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 TAATGTTTCAGGATAAAGAAT 0.557 37 92 --- --- --- --- PASS C2orf65 130951 broad.mit.edu 37 2 74785924 74785924 + Silent SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr2:74785924G>T uc002smy.2 - 11 1629 c.1512C>A c.(1510-1512)TCC>TCA p.S504S C2orf65_uc010ysa.1_Silent_p.S500S|C2orf65_uc010ffp.2_Silent_p.S153S|C2orf65_uc002smx.2_Silent_p.S256S NM_138804 NP_620159 Q8TC57 CB065_HUMAN hypothetical protein LOC130951 504 chromatin assembly|female gamete generation|RNA processing|spermatogenesis integral to membrane ovary(1)|pancreas(1) 2 CTGGCATCTTGGAGGCTCTGC 0.592 87 55 --- --- --- --- PASS REG3G 130120 broad.mit.edu 37 2 79254169 79254169 + Nonsense_Mutation SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr2:79254169C>T uc002snw.2 + 4 290 c.205C>T c.(205-207)CAG>TAG p.Q69* REG3G_uc002snx.2_Nonsense_Mutation_p.Q69*|REG3G_uc010ffu.2_Intron NM_198448 NP_940850 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma precursor 69 C-type lectin. acute-phase response extracellular region sugar binding 0 GCTGGCTTGCCAGAAGCGGCC 0.547 58 166 --- --- --- --- PASS ANAPC1 64682 broad.mit.edu 37 2 112536327 112536327 + Silent SNP G C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr2:112536327G>C uc002thi.2 - 45 5557 c.5310C>G c.(5308-5310)CTC>CTG p.L1770L NM_022662 NP_073153 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 1770 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm skin(2) 2 CTGAAGAAAAGAGATCCAGAA 0.383 20 68 --- --- --- --- PASS INSIG2 51141 broad.mit.edu 37 2 118865897 118865897 + Silent SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr2:118865897G>A uc002tlk.2 + 6 883 c.677G>A c.(676-678)TGA>TAA p.*226* INSIG2_uc010yye.1_Silent_p.*118*|INSIG2_uc002tll.2_Missense_Mutation_p.E85K NM_016133 NP_057217 Q9Y5U4 INSI2_HUMAN insulin induced protein 2 226 ER-nuclear sterol response pathway SREBP-SCAP-Insig complex ovary(1)|central_nervous_system(1) 2 CATCAGGAATGAAGAAGGCAA 0.318 16 68 --- --- --- --- PASS CLASP1 23332 broad.mit.edu 37 2 122285374 122285374 + Splice_Site SNP C G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr2:122285374C>G uc002tnc.2 - 5 860 c.470_splice c.e5+1 p.A157_splice CLASP1_uc010yyy.1_Splice_Site|CLASP1_uc010yyz.1_Splice_Site_p.A157_splice|CLASP1_uc010yza.1_Splice_Site_p.A157_splice|CLASP1_uc010yzb.1_Splice_Site|CLASP1_uc010yzc.1_Intron|CLASP1_uc002tng.1_Splice_Site_p.A157_splice NM_015282 NP_056097 Q7Z460 CLAP1_HUMAN CLIP-associating protein 1 isoform 1 axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding ovary(1)|central_nervous_system(1) 2 Renal(3;0.0496) CCCAGACTTACGCATTGAGTG 0.318 39 24 --- --- --- --- PASS GPR17 2840 broad.mit.edu 37 2 128409093 128409093 + Missense_Mutation SNP T A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr2:128409093T>A uc010yzn.1 + 4 1479 c.868T>A c.(868-870)TAC>AAC p.Y290N LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Missense_Mutation_p.Y290N|GPR17_uc010yzo.1_Missense_Mutation_p.Y262N|GPR17_uc002tpd.2_Missense_Mutation_p.Y262N NM_001161415 NP_001154887 Q13304 GPR17_HUMAN G protein-coupled receptor 17 isoform a 290 Extracellular (Potential). integral to plasma membrane chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled 0 Colorectal(110;0.1) Ovarian(717;0.15) BRCA - Breast invasive adenocarcinoma(221;0.0677) CGTGCTGCACTACCGCAGCCA 0.642 33 5 --- --- --- --- PASS THSD7B 80731 broad.mit.edu 37 2 138373750 138373750 + Missense_Mutation SNP C G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr2:138373750C>G uc002tva.1 + 17 3342 c.3342C>G c.(3340-3342)TGC>TGG p.C1114W THSD7B_uc010zbj.1_Intron NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) AATAGTCATGCGATCCCCACA 0.413 112 17 --- --- --- --- PASS THSD7B 80731 broad.mit.edu 37 2 138373770 138373770 + Missense_Mutation SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr2:138373770G>A uc002tva.1 + 17 3362 c.3362G>A c.(3361-3363)AGA>AAA p.R1121K THSD7B_uc010zbj.1_Intron NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) ACAATGCAGAGAAGAACTCGC 0.418 135 18 --- --- --- --- PASS MBD5 55777 broad.mit.edu 37 2 149227683 149227683 + Missense_Mutation SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr2:149227683G>A uc002twm.3 + 9 3159 c.2171G>A c.(2170-2172)GGG>GAG p.G724E MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.G724E|MBD5_uc002twn.1_Missense_Mutation_p.G165E NM_018328 NP_060798 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 724 chromosome|nucleus chromatin binding|DNA binding skin(3)|ovary(2) 5 BRCA - Breast invasive adenocarcinoma(221;0.0569) CCGGGTTGTGGGGCCTCAAAT 0.453 21 67 --- --- --- --- PASS SCN7A 6332 broad.mit.edu 37 2 167304128 167304128 + Missense_Mutation SNP T G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr2:167304128T>G uc002udu.1 - 11 1508 c.1381A>C c.(1381-1383)AAG>CAG p.K461Q SCN7A_uc010fpm.1_RNA NM_002976 NP_002967 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha 461 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity large_intestine(1) 1 TTACCTTCCTTATGTCTGAGA 0.343 103 13 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179509320 179509320 + Missense_Mutation SNP C G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr2:179509320C>G uc010zfg.1 - 167 32952 c.32728G>C c.(32728-32730)GAA>CAA p.E10910Q TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_RNA|TTN_uc002umx.1_Missense_Mutation_p.E177Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 11837 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) TGAGGTTTTTCAGGAACTTTC 0.333 6 24 --- --- --- --- PASS C2orf69 205327 broad.mit.edu 37 2 200790045 200790045 + Silent SNP T C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr2:200790045T>C uc010zhb.1 + 2 777 c.594T>C c.(592-594)AGT>AGC p.S198S NM_153689 NP_710156 Q8N8R5 CB069_HUMAN hypothetical protein LOC205327 precursor 198 extracellular region central_nervous_system(1) 1 TTAATTTAAGTCAGAATAGTT 0.343 149 6 --- --- --- --- PASS KLF7 8609 broad.mit.edu 37 2 207988717 207988717 + Missense_Mutation SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr2:207988717C>A uc002vbz.1 - 2 836 c.514G>T c.(514-516)GCT>TCT p.A172S KLF7_uc002vca.1_Missense_Mutation_p.A172S|KLF7_uc010zix.1_Missense_Mutation_p.A144S NM_003709 NP_003700 O75840 KLF7_HUMAN Kruppel-like factor 7 (ubiquitous) 172 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding central_nervous_system(1)|skin(1) 2 LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173) GAGCTGAGAGCAGCCTTCTTG 0.612 110 10 --- --- --- --- PASS FN1 2335 broad.mit.edu 37 2 216296604 216296604 + Missense_Mutation SNP A T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr2:216296604A>T uc002vfa.2 - 4 765 c.499T>A c.(499-501)TGT>AGT p.C167S FN1_uc002vfb.2_Missense_Mutation_p.C167S|FN1_uc002vfc.2_Missense_Mutation_p.C167S|FN1_uc002vfd.2_Missense_Mutation_p.C167S|FN1_uc002vfe.2_Missense_Mutation_p.C167S|FN1_uc002vff.2_Missense_Mutation_p.C167S|FN1_uc002vfg.2_Missense_Mutation_p.C167S|FN1_uc002vfh.2_Missense_Mutation_p.C167S|FN1_uc002vfi.2_Missense_Mutation_p.C167S|FN1_uc002vfj.2_Missense_Mutation_p.C167S|FN1_uc002vfl.2_Missense_Mutation_p.C167S NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 167 Fibrin- and heparin-binding 1.|Fibronectin type-I 3. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGACACACACACTCTAACATG 0.498 222 12 --- --- --- --- PASS FN1 2335 broad.mit.edu 37 2 216296609 216296609 + Nonsense_Mutation SNP A C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr2:216296609A>C uc002vfa.2 - 4 760 c.494T>G c.(493-495)TTA>TGA p.L165* FN1_uc002vfb.2_Nonsense_Mutation_p.L165*|FN1_uc002vfc.2_Nonsense_Mutation_p.L165*|FN1_uc002vfd.2_Nonsense_Mutation_p.L165*|FN1_uc002vfe.2_Nonsense_Mutation_p.L165*|FN1_uc002vff.2_Nonsense_Mutation_p.L165*|FN1_uc002vfg.2_Nonsense_Mutation_p.L165*|FN1_uc002vfh.2_Nonsense_Mutation_p.L165*|FN1_uc002vfi.2_Nonsense_Mutation_p.L165*|FN1_uc002vfj.2_Nonsense_Mutation_p.L165*|FN1_uc002vfl.2_Nonsense_Mutation_p.L165* NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 165 Fibrin- and heparin-binding 1.|Fibronectin type-I 3. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CACACACTCTAACATGTAACC 0.483 233 15 --- --- --- --- PASS ZNF142 7701 broad.mit.edu 37 2 219513804 219513804 + Missense_Mutation SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr2:219513804G>A uc002vin.2 - 6 1263 c.827C>T c.(826-828)ACG>ATG p.T276M ZNF142_uc002vil.2_Missense_Mutation_p.T237M|ZNF142_uc010fvt.2_Missense_Mutation_p.T113M|ZNF142_uc002vim.2_Missense_Mutation_p.T113M NM_001105537 NP_001099007 P52746 ZN142_HUMAN zinc finger protein 142 276 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) GGCTGCTGCCGTGTGGCTCTT 0.572 OREG0015202 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 60 --- --- --- --- PASS CCDC108 255101 broad.mit.edu 37 2 219878062 219878062 + Silent SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr2:219878062C>A uc002vjl.1 - 24 3960 c.3876G>T c.(3874-3876)CCG>CCT p.P1292P NM_194302 NP_919278 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 isoform 1 1292 integral to membrane structural molecule activity ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACTTCTGCTCCGGCTTCACTG 0.532 45 3 --- --- --- --- PASS ABCB6 10058 broad.mit.edu 37 2 220075486 220075486 + Missense_Mutation SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr2:220075486C>T uc002vkc.1 - 16 2480 c.2203G>A c.(2203-2205)GTC>ATC p.V735I ABCB6_uc010fwe.1_Missense_Mutation_p.V689I NM_005689 NP_005680 Q9NP58 ABCB6_HUMAN ATP-binding cassette, sub-family B, member 6 735 ABC transporter. cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity breast(1)|central_nervous_system(1) 2 Renal(207;0.0474) Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCAATGGCGACGCGCTGCTTC 0.612 13 46 --- --- --- --- PASS SLC4A3 6508 broad.mit.edu 37 2 220494096 220494096 + Missense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr2:220494096G>T uc002vmp.3 + 4 717 c.448G>T c.(448-450)GCA>TCA p.A150S SLC4A3_uc002vmn.2_Missense_Mutation_p.A150S|SLC4A3_uc002vmo.3_Missense_Mutation_p.A150S|SLC4A3_uc010fwm.2_5'UTR|SLC4A3_uc010fwn.1_5'Flank NM_005070 NP_005061 P48751 B3A3_HUMAN solute carrier family 4, anion exchanger, member 150 Cytoplasmic. bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 5 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGAATCTGAGGCAGAACCTGT 0.547 27 3 --- --- --- --- PASS SP140 11262 broad.mit.edu 37 2 231159004 231159004 + Missense_Mutation SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr2:231159004C>T uc002vql.2 + 21 2102 c.1987C>T c.(1987-1989)CCT>TCT p.P663S SP140_uc010zma.1_RNA|SP140_uc002vqn.2_Missense_Mutation_p.P549S|SP140_uc002vqm.2_Missense_Mutation_p.P603S|SP140_uc010fxl.2_Missense_Mutation_p.P636S NM_007237 NP_009168 Q13342 LY10_HUMAN SP140 nuclear body protein isoform 1 663 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) TCTGCCTGATCCTCCAAGAAT 0.363 26 15 --- --- --- --- PASS DTYMK 1841 broad.mit.edu 37 2 242625274 242625274 + Missense_Mutation SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr2:242625274C>T uc002wbz.1 - 2 178 c.149G>A c.(148-150)GGC>GAC p.G50D DTYMK_uc010zpa.1_Missense_Mutation_p.G50D|DTYMK_uc010zpb.1_RNA|DTYMK_uc002wca.1_RNA NM_012145 NP_036277 P23919 KTHY_HUMAN deoxythymidylate kinase (thymidylate kinase) 50 cell cycle|cell proliferation|nucleobase, nucleoside and nucleotide interconversion cytosol ATP binding|nucleoside phosphate kinase activity|thymidylate kinase activity 0 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) CAGAAGTTTGCCGATTTCAGT 0.388 4 120 --- --- --- --- PASS FGD5 152273 broad.mit.edu 37 3 14941937 14941937 + Missense_Mutation SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr3:14941937C>T uc003bzc.2 + 8 3292 c.3182C>T c.(3181-3183)TCC>TTC p.S1061F FGD5_uc011avk.1_Missense_Mutation_p.S1061F|FGD5_uc003bzd.2_Missense_Mutation_p.S139F NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 1061 DH. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|kidney(1)|pancreas(1) 5 TGTCCGGACTCCGCCGAGTAC 0.587 9 14 --- --- --- --- PASS FGD5 152273 broad.mit.edu 37 3 14941938 14941938 + Silent SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr3:14941938C>T uc003bzc.2 + 8 3293 c.3183C>T c.(3181-3183)TCC>TCT p.S1061S FGD5_uc011avk.1_Silent_p.S1061S|FGD5_uc003bzd.2_Silent_p.S139S NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 1061 DH. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|kidney(1)|pancreas(1) 5 GTCCGGACTCCGCCGAGTACG 0.582 9 14 --- --- --- --- PASS KAT2B 8850 broad.mit.edu 37 3 20082244 20082244 + Missense_Mutation SNP A G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr3:20082244A>G uc003cbq.2 + 1 721 c.275A>G c.(274-276)GAG>GGG p.E92G NM_003884 NP_003875 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B 92 cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 AAGAAACTGGAGAAACTCGGA 0.647 16 3 --- --- --- --- PASS ARPP21 10777 broad.mit.edu 37 3 35748492 35748492 + Missense_Mutation SNP T C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr3:35748492T>C uc003cgb.2 + 10 977 c.713T>C c.(712-714)TTA>TCA p.L238S ARPP21_uc003cga.2_Missense_Mutation_p.L238S|ARPP21_uc011axy.1_Missense_Mutation_p.L238S|ARPP21_uc003cgf.2_Missense_Mutation_p.L74S NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN cyclic AMP-regulated phosphoprotein, 21 kD 238 cytoplasm nucleic acid binding ovary(2)|skin(1) 3 TGTGAACATTTAAAAGATGAA 0.333 72 18 --- --- --- --- PASS MAP4 4134 broad.mit.edu 37 3 47957950 47957950 + Missense_Mutation SNP G C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr3:47957950G>C uc003csb.2 - 7 1893 c.1367C>G c.(1366-1368)ACC>AGC p.T456S MAP4_uc003csc.3_Missense_Mutation_p.T456S|MAP4_uc011bbf.1_Missense_Mutation_p.T433S|MAP4_uc003csf.3_Missense_Mutation_p.T473S NM_002375 NP_002366 P27816 MAP4_HUMAN microtubule-associated protein 4 isoform 1 456 12.|17 X 14 AA tandem repeats. negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(2)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) GATCACGTTGGTTTCCGGGGG 0.517 51 7 --- --- --- --- PASS CACNA2D2 9254 broad.mit.edu 37 3 50403720 50403720 + Missense_Mutation SNP T C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr3:50403720T>C uc003daq.2 - 32 2746 c.2708A>G c.(2707-2709)AAC>AGC p.N903S CACNA2D2_uc003dap.2_Missense_Mutation_p.N896S|CACNA2D2_uc003dao.2_5'Flank NM_006030 NP_006021 Q9NY47 CA2D2_HUMAN calcium channel, voltage-dependent, alpha 903 Extracellular (Potential). energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) ATGGTTCTGGTTTGACAGCAC 0.547 91 23 --- --- --- --- PASS OR5H1 26341 broad.mit.edu 37 3 97851543 97851543 + Missense_Mutation SNP T C C rs150362159 byFrequency TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr3:97851543T>C uc011bgt.1 + 1 2 c.2T>C c.(1-3)ATG>ACG p.M1T NM_001005338 NP_001005338 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, 1 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 TGTGAGGACATGGAAGAGGAA 0.398 82 97 --- --- --- --- PASS OR5H1 26341 broad.mit.edu 37 3 97852069 97852069 + Missense_Mutation SNP C G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr3:97852069C>G uc011bgt.1 + 1 528 c.528C>G c.(526-528)CAC>CAG p.H176Q NM_001005338 NP_001005338 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, 176 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 TAGTACATCACATTTACTGTG 0.318 36 45 --- --- --- --- PASS MYH15 22989 broad.mit.edu 37 3 108102447 108102447 + Missense_Mutation SNP T C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr3:108102447T>C uc003dxa.1 - 41 5878 c.5821A>G c.(5821-5823)AAA>GAA p.K1941E NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 1941 Potential. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 CATACCTTTTTCCCAAACTCT 0.358 30 142 --- --- --- --- PASS DPPA4 55211 broad.mit.edu 37 3 109049619 109049619 + Nonsense_Mutation SNP G C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr3:109049619G>C uc003dxq.3 - 5 486 c.431C>G c.(430-432)TCA>TGA p.S144* DPPA4_uc011bho.1_Intron|DPPA4_uc011bhp.1_Nonsense_Mutation_p.S144* NM_018189 NP_060659 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 144 nucleus protein binding upper_aerodigestive_tract(1) 1 TTTTTGCAATGATTTCCGGAT 0.403 59 62 --- --- --- --- PASS PARP9 83666 broad.mit.edu 37 3 122259335 122259335 + Silent SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr3:122259335G>A uc010hri.2 - 8 1999 c.1854C>T c.(1852-1854)GGC>GGT p.G618G PARP9_uc003eff.3_Silent_p.G583G|PARP9_uc011bjs.1_Silent_p.G583G|PARP9_uc003efg.2_Silent_p.G163G|PARP9_uc003efi.2_Silent_p.G583G|PARP9_uc003efh.2_Silent_p.G618G|PARP9_uc003efj.2_Silent_p.G583G NM_001146102 NP_001139574 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 618 cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1)|pancreas(1)|prostate(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.0519) AGCGCCAAAGGCCTCGCTCCT 0.438 34 42 --- --- --- --- PASS SEMA5B 54437 broad.mit.edu 37 3 122632069 122632069 + Missense_Mutation SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr3:122632069C>T uc003efz.1 - 17 2787 c.2483G>A c.(2482-2484)GGC>GAC p.G828D SEMA5B_uc011bju.1_Missense_Mutation_p.G770D|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.G828D|SEMA5B_uc010hro.1_Missense_Mutation_p.G770D|SEMA5B_uc003efy.1_5'Flank NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN semaphorin 5B isoform 1 828 Extracellular (Potential). cell differentiation|nervous system development integral to membrane receptor activity ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1) 7 GBM - Glioblastoma multiforme(114;0.0367) GGAGCCGGAGCCGTCCGCGGG 0.647 11 12 --- --- --- --- PASS ALDH1L1 10840 broad.mit.edu 37 3 125856685 125856685 + Missense_Mutation SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr3:125856685C>T uc003eim.1 - 10 1385 c.1195G>A c.(1195-1197)GAT>AAT p.D399N ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Missense_Mutation_p.D298N|ALDH1L1_uc003eio.2_Missense_Mutation_p.D101N|ALDH1L1_uc010hsf.1_Missense_Mutation_p.D425N NM_012190 NP_036322 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 399 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) CCCTCCTCATCGTCCCCTCGC 0.557 10 83 --- --- --- --- PASS EPHB1 2047 broad.mit.edu 37 3 134911454 134911454 + Missense_Mutation SNP T A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr3:134911454T>A uc003eqt.2 + 11 2139 c.1919T>A c.(1918-1920)CTG>CAG p.L640Q EPHB1_uc003equ.2_Missense_Mutation_p.L201Q NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 640 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 CGTTTGAAACTGCCAGGCAAG 0.522 17 20 --- --- --- --- PASS SOX14 8403 broad.mit.edu 37 3 137483941 137483941 + Silent SNP C G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr3:137483941C>G uc003erm.1 + 1 363 c.315C>G c.(313-315)CTC>CTG p.L105L NM_004189 NP_004180 O95416 SOX14_HUMAN SRY-box 14 105 negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent nucleus sequence-specific DNA binding 0 CGGACCCGCTCAAGGCGGCTG 0.687 39 41 --- --- --- --- PASS CHST2 9435 broad.mit.edu 37 3 142840409 142840409 + Missense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr3:142840409G>T uc003evm.2 + 2 1640 c.751G>T c.(751-753)GGC>TGC p.G251C NM_004267 NP_004258 Q9Y4C5 CHST2_HUMAN carbohydrate (N-acetylglucosamine-6-O) 251 Lumenal (Potential). inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity ovary(3) 3 GGGCATCTTCGGCGCAGCCAC 0.652 32 38 --- --- --- --- PASS P2RY14 9934 broad.mit.edu 37 3 150931768 150931768 + Missense_Mutation SNP C G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr3:150931768C>G uc003eyr.1 - 3 815 c.337G>C c.(337-339)GGG>CGG p.G113R MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY14_uc003eys.1_Missense_Mutation_p.G113R NM_001081455 NP_001074924 Q15391 P2Y14_HUMAN P2Y14 receptor 113 Helical; Name=3; (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity large_intestine(2)|ovary(1)|lung(1) 4 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CTGATGAGCCCAAAGAACACA 0.458 33 79 --- --- --- --- PASS MLF1 4291 broad.mit.edu 37 3 158322912 158322912 + Missense_Mutation SNP T C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr3:158322912T>C uc003fcb.2 + 7 865 c.728T>C c.(727-729)ATT>ACT p.I243T MLF1_uc003fbz.2_Missense_Mutation_p.I218T|MLF1_uc003fca.2_Missense_Mutation_p.I218T|MLF1_uc003fbx.2_Missense_Mutation_p.I233T|MLF1_uc003fcc.2_Missense_Mutation_p.I274T|MLF1_uc003fby.2_Missense_Mutation_p.I169T|MLF1_uc010hvx.2_Missense_Mutation_p.I175T NM_022443 NP_071888 P58340 MLF1_HUMAN myeloid leukemia factor 1 isoform 1 243 cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein domain specific binding 0 Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299) Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256) AGTCCAGCCATTGAACATGGA 0.333 T NPM1 AML 68 22 --- --- --- --- PASS ZBBX 79740 broad.mit.edu 37 3 167016199 167016199 + Nonsense_Mutation SNP A T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr3:167016199A>T uc003fep.2 - 18 2096 c.1773T>A c.(1771-1773)TAT>TAA p.Y591* ZBBX_uc011bpc.1_Nonsense_Mutation_p.Y591*|ZBBX_uc003feq.2_Nonsense_Mutation_p.Y562* NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 591 intracellular zinc ion binding ovary(2) 2 CAAGTCCTTGATATTGTTTTG 0.299 55 264 --- --- --- --- PASS WDR49 151790 broad.mit.edu 37 3 167240178 167240178 + Missense_Mutation SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr3:167240178G>A uc003fev.1 - 12 1949 c.1643C>T c.(1642-1644)TCT>TTT p.S548F WDR49_uc003feu.1_Missense_Mutation_p.S373F|WDR49_uc011bpd.1_Intron|WDR49_uc003few.1_Intron NM_178824 NP_849146 Q8IV35 WDR49_HUMAN WD repeat domain 49 548 large_intestine(1)|ovary(1)|skin(1) 3 TTCCTCCTTAGAAAATAAAGA 0.308 5 185 --- --- --- --- PASS MECOM 2122 broad.mit.edu 37 3 168830641 168830641 + Silent SNP A G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr3:168830641A>G uc003ffi.3 - 8 2216 c.1947T>C c.(1945-1947)ACT>ACC p.T649T MECOM_uc010hwk.1_Silent_p.T672T|MECOM_uc003ffj.3_Silent_p.T714T|MECOM_uc011bpi.1_Silent_p.T650T|MECOM_uc003ffn.3_Silent_p.T649T|MECOM_uc003ffk.2_Silent_p.T649T|MECOM_uc003ffl.2_Silent_p.T809T|MECOM_uc011bpj.1_Silent_p.T837T|MECOM_uc011bpk.1_Silent_p.T639T|MECOM_uc010hwn.2_Silent_p.T837T NM_005241 NP_005232 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform b 649 apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 CAAGTGGGTCAGTTAGTTTTC 0.348 54 208 --- --- --- --- PASS TNFSF10 8743 broad.mit.edu 37 3 172224300 172224300 + Silent SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr3:172224300C>A uc003fid.2 - 5 923 c.828G>T c.(826-828)GGG>GGT p.G276G TNFSF10_uc003fie.2_3'UTR NM_003810 NP_003801 P50591 TNF10_HUMAN tumor necrosis factor (ligand) superfamily, 276 Extracellular (Potential). activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane|soluble fraction cytokine activity|metal ion binding|tumor necrosis factor receptor binding skin(4)|lung(1) 5 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) CTAAAAAGGCCCCAAAAAAAC 0.353 101 39 --- --- --- --- PASS TTC14 151613 broad.mit.edu 37 3 180320683 180320683 + Nonsense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr3:180320683G>T uc003fkk.2 + 2 298 c.166G>T c.(166-168)GAG>TAG p.E56* TTC14_uc003fkl.2_Nonsense_Mutation_p.E56*|TTC14_uc003fkm.2_Nonsense_Mutation_p.E56* NM_133462 NP_597719 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 isoform a 56 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) TTTAAGAAAAGAGAAGAGAGT 0.383 12 81 --- --- --- --- PASS TTC14 151613 broad.mit.edu 37 3 180320684 180320684 + Missense_Mutation SNP A T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr3:180320684A>T uc003fkk.2 + 2 299 c.167A>T c.(166-168)GAG>GTG p.E56V TTC14_uc003fkl.2_Missense_Mutation_p.E56V|TTC14_uc003fkm.2_Missense_Mutation_p.E56V NM_133462 NP_597719 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 isoform a 56 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) TTAAGAAAAGAGAAGAGAGTT 0.378 14 82 --- --- --- --- PASS AHSG 197 broad.mit.edu 37 3 186338466 186338466 + Missense_Mutation SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr3:186338466G>A uc003fqk.3 + 7 932 c.851G>A c.(850-852)GGC>GAC p.G284D AHSG_uc003fql.3_Missense_Mutation_p.G285D|AHSG_uc003fqm.3_Missense_Mutation_p.G283D|AHSG_uc010hyp.2_Missense_Mutation_p.G247D NM_001622 NP_001613 P02765 FETUA_HUMAN alpha-2-HS-glycoprotein 284 acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development extracellular space cysteine-type endopeptidase inhibitor activity|protein binding 0 all_cancers(143;3.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.27e-20) GBM - Glioblastoma multiforme(93;0.0463) CCTCCACTTGGCGCACCTGGA 0.637 39 258 --- --- --- --- PASS CLDN1 9076 broad.mit.edu 37 3 190039819 190039819 + Silent SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr3:190039819G>A uc003fsh.2 - 1 397 c.177C>T c.(175-177)ACC>ACT p.T59T NM_021101 NP_066924 O95832 CLD1_HUMAN claudin 1 59 Extracellular (Potential). calcium-independent cell-cell adhesion|interspecies interaction between organisms integral to plasma membrane|tight junction identical protein binding|structural molecule activity lung(1) 1 all_cancers(143;2.95e-10)|Ovarian(172;0.0512) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.015) GGATCTGCCCGGTGCTCTGCG 0.627 173 42 --- --- --- --- PASS OTOP1 133060 broad.mit.edu 37 4 4190615 4190615 + Missense_Mutation SNP A T T rs147866723 TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr4:4190615A>T uc003ghp.1 - 6 1784 c.1754T>A c.(1753-1755)ATT>AAT p.I585N NM_177998 NP_819056 Q7RTM1 OTOP1_HUMAN otopetrin 1 585 Helical; (Potential). biomineral tissue development extracellular space|integral to membrane ovary(2)|central_nervous_system(1) 3 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GTTGACCACAATTATCCAGGG 0.468 11 120 --- --- --- --- PASS AFAP1 60312 broad.mit.edu 37 4 7844926 7844926 + Silent SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr4:7844926C>A uc003gkg.1 - 5 759 c.486G>T c.(484-486)CGG>CGT p.R162R AFAP1_uc011bwk.1_Silent_p.R162R NM_198595 NP_940997 Q8N556 AFAP1_HUMAN actin filament associated protein 1 162 PH 1. actin cytoskeleton|cytoplasm|focal adhesion actin binding 0 ACCGCTTCTTCCGCAGCAGGA 0.547 30 82 --- --- --- --- PASS GPR125 166647 broad.mit.edu 37 4 22438155 22438155 + Missense_Mutation SNP T C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr4:22438155T>C uc003gqm.1 - 9 1460 c.1195A>G c.(1195-1197)AGA>GGA p.R399G GPR125_uc010ieo.1_Missense_Mutation_p.R273G|GPR125_uc003gqn.1_Missense_Mutation_p.R173G|GPR125_uc003gqo.2_Missense_Mutation_p.R399G NM_145290 NP_660333 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 precursor 399 Extracellular (Potential). neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity skin(1) 1 Breast(46;0.198) CTATCACATCTGCGCCAAGCT 0.448 17 24 --- --- --- --- PASS APBB2 323 broad.mit.edu 37 4 40936686 40936686 + Missense_Mutation SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr4:40936686G>A uc003gvl.2 - 9 1765 c.1135C>T c.(1135-1137)CCC>TCC p.P379S APBB2_uc010ifu.2_5'UTR|APBB2_uc003gvm.2_Missense_Mutation_p.P358S|APBB2_uc003gvn.2_Missense_Mutation_p.P380S|APBB2_uc011byt.1_Missense_Mutation_p.P341S NM_173075 NP_775098 Q92870 APBB2_HUMAN amyloid beta A4 precursor protein-binding, 379 cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent growth cone|lamellipodium|membrane|nucleus|synapse beta-amyloid binding|transcription factor binding ovary(2)|large_intestine(1) 3 TTTAAACTGGGGTCCGGGTTA 0.433 9 25 --- --- --- --- PASS GABRA4 2557 broad.mit.edu 37 4 46930469 46930469 + Missense_Mutation SNP C G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr4:46930469C>G uc003gxg.2 - 9 1577 c.1438G>C c.(1438-1440)GGA>CGA p.G480R NM_000809 NP_000800 P48169 GBRA4_HUMAN gamma-aminobutyric acid A receptor, alpha 4 480 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|upper_aerodigestive_tract(1)|breast(1) 4 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AGTCTTGATCCAAACACGTGA 0.493 37 63 --- --- --- --- PASS PPAT 5471 broad.mit.edu 37 4 57269556 57269556 + Silent SNP A G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr4:57269556A>G uc003hbr.2 - 4 616 c.414T>C c.(412-414)CAT>CAC p.H138H NM_002703 NP_002694 Q06203 PUR1_HUMAN phosphoribosyl pyrophosphate amidotransferase 138 Glutamine amidotransferase type-2. glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process cytosol 4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding 0 Glioma(25;0.08)|all_neural(26;0.101) L-Glutamine(DB00130)|Thioguanine(DB00352) GACCAATACCATGACGCAGAA 0.453 26 20 --- --- --- --- PASS TECRL 253017 broad.mit.edu 37 4 65147199 65147199 + Missense_Mutation SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr4:65147199G>A uc003hcv.2 - 10 1020 c.911C>T c.(910-912)ACC>ATC p.T304I TECRL_uc010ihi.2_RNA NM_001010874 NP_001010874 Q5HYJ1 TECRL_HUMAN steroid 5 alpha-reductase 2-like 2 304 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors 0 TACCTCATAGGTGTAGTTAGG 0.299 27 17 --- --- --- --- PASS CENPC1 1060 broad.mit.edu 37 4 68385091 68385091 + Missense_Mutation SNP A G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr4:68385091A>G uc003hdd.1 - 6 644 c.461T>C c.(460-462)TTA>TCA p.L154S CENPC1_uc010ihj.1_RNA|CENPC1_uc010ihk.1_RNA|CENPC1_uc010ihm.1_Missense_Mutation_p.L154S NM_001812 NP_001803 Q03188 CENPC_HUMAN centromere protein C 1 154 mitotic prometaphase condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol DNA binding urinary_tract(1)|lung(1) 2 GCCAACGGATAAGTAAAATTC 0.353 56 49 --- --- --- --- PASS SLC4A4 8671 broad.mit.edu 37 4 72222840 72222840 + Silent SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr4:72222840G>T uc003hfy.2 + 6 783 c.666G>T c.(664-666)CGG>CGT p.R222R SLC4A4_uc010iic.2_Silent_p.R222R|SLC4A4_uc010iib.2_Silent_p.R222R|SLC4A4_uc003hfz.2_Silent_p.R222R|SLC4A4_uc003hgc.3_Silent_p.R178R|SLC4A4_uc003hga.2_Silent_p.R100R|SLC4A4_uc003hgb.3_Silent_p.R178R NM_001098484 NP_001091954 Q9Y6R1 S4A4_HUMAN solute carrier family 4, sodium bicarbonate 222 Cytoplasmic (Potential). basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|kidney(1)|skin(1) 5 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) CCAACCTTCGGTCCCTGGCTG 0.478 56 47 --- --- --- --- PASS ANTXR2 118429 broad.mit.edu 37 4 80954705 80954705 + Missense_Mutation SNP T A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr4:80954705T>A uc003hlz.3 - 9 1480 c.717A>T c.(715-717)TTA>TTT p.L239F ANTXR2_uc003hly.3_Missense_Mutation_p.L239F|ANTXR2_uc003hlx.1_RNA|ANTXR2_uc010ijn.2_Intron NM_001145794 NP_001139266 P58335 ANTR2_HUMAN anthrax toxin receptor 2 isoform 2 239 Extracellular (Potential). endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane metal ion binding|protein binding|receptor activity ovary(1) 1 CTCTTCCACTTAAGACAATCT 0.353 Juvenile_Hyaline_Fibromatosis 47 20 --- --- --- --- PASS TACR3 6870 broad.mit.edu 37 4 104511076 104511076 + Silent SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr4:104511076G>T uc003hxe.1 - 5 1304 c.1161C>A c.(1159-1161)CTC>CTA p.L387L NM_001059 NP_001050 P29371 NK3R_HUMAN tachykinin receptor 3 387 Cytoplasmic (Potential). integral to plasma membrane tachykinin receptor activity ovary(3)|lung(2)|breast(1)|skin(1) 7 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) TGGTGGTCTTGAGCTCTAGCT 0.493 29 72 --- --- --- --- PASS ANK2 287 broad.mit.edu 37 4 114284526 114284526 + Missense_Mutation SNP C G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr4:114284526C>G uc003ibe.3 + 40 10889 c.10789C>G c.(10789-10791)CAA>GAA p.Q3597E ANK2_uc003ibd.3_Missense_Mutation_p.Q1503E|ANK2_uc003ibf.3_Missense_Mutation_p.Q1512E|ANK2_uc011cgc.1_Missense_Mutation_p.Q688E|ANK2_uc003ibg.3_Missense_Mutation_p.Q496E|ANK2_uc003ibh.3_Missense_Mutation_p.Q186E|ANK2_uc011cgd.1_Missense_Mutation_p.Q899E NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 3564 Death. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CACTGAGGAGCAAATTCATCA 0.378 29 23 --- --- --- --- PASS PLRG1 5356 broad.mit.edu 37 4 155467044 155467044 + Missense_Mutation SNP T C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr4:155467044T>C uc003iny.2 - 6 499 c.436A>G c.(436-438)AGT>GGT p.S146G PLRG1_uc003inz.2_Missense_Mutation_p.S137G|PLRG1_uc011cil.1_5'UTR NM_002669 NP_002660 O43660 PLRG1_HUMAN pleiotropic regulator 1 (PRL1 homolog, 146 catalytic step 2 spliceosome|nuclear speck protein binding|signal transducer activity|transcription corepressor activity 0 all_hematologic(180;0.215) Renal(120;0.0854) CGGTATTCACTTCCACTAGGG 0.428 17 17 --- --- --- --- PASS PDGFC 56034 broad.mit.edu 37 4 157732119 157732119 + Missense_Mutation SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr4:157732119C>A uc003iph.1 - 3 856 c.365G>T c.(364-366)CGC>CTC p.R122L PDGFC_uc003ipi.1_5'UTR|PDGFC_uc011cis.1_5'UTR|PDGFC_uc011cir.1_5'UTR NM_016205 NP_057289 Q9NRA1 PDGFC_HUMAN platelet-derived growth factor C precursor 122 CUB. central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity ovary(1)|lung(1)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212) ACCACACCAGCGCCCTAATAT 0.373 15 44 --- --- --- --- PASS RAPGEF2 9693 broad.mit.edu 37 4 160264516 160264516 + Missense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr4:160264516G>T uc003iqg.3 + 16 3041 c.2731G>T c.(2731-2733)GCT>TCT p.A911S NM_014247 NP_055062 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor 2 911 Ras-GEF. cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity lung(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) TGGCCGAATGGCTTCAGTGAA 0.453 31 67 --- --- --- --- PASS RAPGEF2 9693 broad.mit.edu 37 4 160274061 160274061 + Missense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr4:160274061G>T uc003iqg.3 + 21 3917 c.3607G>T c.(3607-3609)GGG>TGG p.G1203W NM_014247 NP_055062 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor 2 1203 cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity lung(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) GTATAGCTTGGGGTAGGTGGC 0.408 15 11 --- --- --- --- PASS IRX1 79192 broad.mit.edu 37 5 3599553 3599553 + Missense_Mutation SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr5:3599553C>A uc003jde.2 + 2 543 c.491C>A c.(490-492)GCC>GAC p.A164D NM_024337 NP_077313 P78414 IRX1_HUMAN iroquois homeobox protein 1 164 Homeobox; TALE-type. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 ATCATGCTGGCCATCATCACC 0.632 20 130 --- --- --- --- PASS CCT5 22948 broad.mit.edu 37 5 10250467 10250467 + Silent SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr5:10250467G>T uc003jeq.2 + 1 186 c.15G>T c.(13-15)GGG>GGT p.G5G FAM173B_uc003jeo.2_5'Flank|FAM173B_uc003jep.2_5'Flank|FAM173B_uc010itr.2_5'Flank|CCT5_uc011cmq.1_5'UTR|CCT5_uc003jer.2_Silent_p.G5G|CCT5_uc010its.2_Silent_p.G5G|CCT5_uc011cmr.1_Silent_p.G5G|CCT5_uc011cms.1_5'Flank|CCT5_uc011cmt.1_5'Flank NM_012073 NP_036205 P48643 TCPE_HUMAN chaperonin containing TCP1, subunit 5 (epsilon) 5 'de novo' posttranslational protein folding|response to virus microtubule organizing center|nucleolus ATP binding|unfolded protein binding ovary(2) 2 CGTCCATGGGGACCCTCGCCT 0.582 19 24 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24535872 24535872 + Missense_Mutation SNP C G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr5:24535872C>G uc003jgr.1 - 4 918 c.586G>C c.(586-588)GCC>CCC p.A196P CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 196 Cadherin 2.|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) ATGACTCTGGCGCTGTTCCCA 0.453 HNSCC(23;0.051) 36 47 --- --- --- --- PASS CDH6 1004 broad.mit.edu 37 5 31317838 31317838 + Silent SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr5:31317838C>A uc003jhe.1 + 11 2015 c.1689C>A c.(1687-1689)ACC>ACA p.T563T CDH6_uc003jhd.1_Silent_p.T563T NM_004932 NP_004923 P55285 CADH6_HUMAN cadherin 6, type 2 preproprotein 563 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding ovary(4)|skin(2)|large_intestine(1) 7 AGATGAGCACCTATCTCTTGC 0.498 45 37 --- --- --- --- PASS RNASEN 29102 broad.mit.edu 37 5 31515295 31515295 + Missense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr5:31515295G>T uc003jhg.2 - 7 1449 c.1090C>A c.(1090-1092)CGT>AGT p.R364S RNASEN_uc003jhh.2_Missense_Mutation_p.R327S|RNASEN_uc003jhi.2_Missense_Mutation_p.R327S|RNASEN_uc010iui.1_Missense_Mutation_p.R287S NM_013235 NP_037367 Q9NRR4 RNC_HUMAN ribonuclease III, nuclear isoform 1 364 gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity 0 TCCTCCCAACGAGCTCTCTTC 0.433 91 130 --- --- --- --- PASS ADAMTS12 81792 broad.mit.edu 37 5 33576589 33576589 + Missense_Mutation SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr5:33576589C>A uc003jia.1 - 19 3705 c.3542G>T c.(3541-3543)AGA>ATA p.R1181I ADAMTS12_uc010iuq.1_Missense_Mutation_p.R1096I NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1181 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 TCCAGGTACTCTGATCTTGGT 0.498 HNSCC(64;0.19) 89 113 --- --- --- --- PASS ADAMTS12 81792 broad.mit.edu 37 5 33684122 33684122 + Nonsense_Mutation SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr5:33684122C>A uc003jia.1 - 4 836 c.673G>T c.(673-675)GAG>TAG p.E225* ADAMTS12_uc010iuq.1_Nonsense_Mutation_p.E225* NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 225 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 TCCCACTTCTCCCGCCATAGC 0.468 HNSCC(64;0.19) 39 18 --- --- --- --- PASS C7 730 broad.mit.edu 37 5 40955555 40955555 + Missense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr5:40955555G>T uc003jmh.2 + 10 1274 c.1160G>T c.(1159-1161)GGC>GTC p.G387V C7_uc011cpn.1_RNA NM_000587 NP_000578 P10643 CO7_HUMAN complement component 7 precursor 387 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex 0 Ovarian(839;0.0112) TTCATATCTGGCCTTAGTTAC 0.438 67 115 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45262353 45262353 + Silent SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr5:45262353C>T uc003jok.2 - 8 2368 c.2343G>A c.(2341-2343)CGG>CGA p.R781R NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 781 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 GCCTGACTTCCCGGGTCAGGT 0.602 32 34 --- --- --- --- PASS CMYA5 202333 broad.mit.edu 37 5 79026563 79026563 + Missense_Mutation SNP G C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr5:79026563G>C uc003kgc.2 + 2 2047 c.1975G>C c.(1975-1977)GAG>CAG p.E659Q NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 659 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) ATCCACAACTGAGAAGACTTC 0.473 8 30 --- --- --- --- PASS GPR98 84059 broad.mit.edu 37 5 90012361 90012361 + Missense_Mutation SNP G C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr5:90012361G>C uc003kju.2 + 43 9358 c.9262G>C c.(9262-9264)GAG>CAG p.E3088Q GPR98_uc003kjt.2_Missense_Mutation_p.E794Q|GPR98_uc003kjv.2_Missense_Mutation_p.E688Q NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 3088 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTTCCTAAGAGAGCCAACAGC 0.408 3 31 --- --- --- --- PASS SLCO6A1 133482 broad.mit.edu 37 5 101834339 101834339 + Silent SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr5:101834339G>A uc003knn.2 - 1 382 c.210C>T c.(208-210)GCC>GCT p.A70A SLCO6A1_uc003kno.2_Silent_p.A70A|SLCO6A1_uc003knp.2_Silent_p.A70A|SLCO6A1_uc003knq.2_Silent_p.A70A NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, 70 Cytoplasmic (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|skin(3)|central_nervous_system(1) 7 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) CTGAGGACTTGGCTTTTTTCC 0.517 126 158 --- --- --- --- PASS CEP120 153241 broad.mit.edu 37 5 122751802 122751802 + Missense_Mutation SNP T A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr5:122751802T>A uc003ktk.2 - 4 305 c.223A>T c.(223-225)ATC>TTC p.I75F CEP120_uc011cwq.1_5'UTR|CEP120_uc010jcz.1_Missense_Mutation_p.I49F NM_153223 NP_694955 Q8N960 CE120_HUMAN coiled-coil domain containing 100 75 centrosome ovary(1) 1 TGGAGTTTGATAGGAGTACGC 0.353 27 23 --- --- --- --- PASS FBN2 2201 broad.mit.edu 37 5 127730856 127730856 + Missense_Mutation SNP C G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr5:127730856C>G uc003kuu.2 - 9 1629 c.1190G>C c.(1189-1191)GGC>GCC p.G397A FBN2_uc003kuv.2_Missense_Mutation_p.G364A NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 397 TB 2. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GGTTCCGATGCCCCAGCAGCG 0.562 22 33 --- --- --- --- PASS SHROOM1 134549 broad.mit.edu 37 5 132161784 132161784 + Missense_Mutation SNP T A A rs10054043 TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr5:132161784T>A uc003kxx.2 - 4 854 c.49A>T c.(49-51)ACT>TCT p.T17S SHROOM1_uc003kxy.1_Missense_Mutation_p.T17S NM_133456 NP_597713 Q2M3G4 SHRM1_HUMAN shroom family member 1 17 actin filament bundle assembly|cell morphogenesis cytoplasm|microtubule actin filament binding pancreas(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AGGCTGCTAGTGGACGAGGCC 0.711 8 7 --- --- --- --- PASS PCDHA5 56143 broad.mit.edu 37 5 140202652 140202652 + Missense_Mutation SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr5:140202652C>T uc003lhl.2 + 1 1292 c.1292C>T c.(1291-1293)TCG>TTG p.S431L 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_Missense_Mutation_p.S431L|PCDHA5_uc003lhj.1_Missense_Mutation_p.S431L NM_018908 NP_061731 Q9Y5H7 PCDA5_HUMAN protocadherin alpha 5 isoform 1 precursor 431 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(1)|breast(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACGGGGGCTCGCCTTCGCTG 0.642 15 139 --- --- --- --- PASS PCDHA7 56141 broad.mit.edu 37 5 140215062 140215062 + Missense_Mutation SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr5:140215062C>A uc003lhq.2 + 1 1094 c.1094C>A c.(1093-1095)CCA>CAA p.P365Q 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_uc011dac.1_Missense_Mutation_p.P365Q NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 365 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACGCCCAACCAGGTACCGTC 0.507 67 141 --- --- --- --- PASS PCDHGA3 56112 broad.mit.edu 37 5 140725268 140725268 + Silent SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr5:140725268C>T uc003ljm.1 + 1 1668 c.1668C>T c.(1666-1668)AAC>AAT p.N556N PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.N316N|PCDHGA3_uc011dap.1_Silent_p.N556N NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 556 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGACCAGAACGACAACGCGC 0.622 8 231 --- --- --- --- PASS PCDHGA8 9708 broad.mit.edu 37 5 140772461 140772461 + Silent SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr5:140772461G>T uc003lkd.1 + 1 979 c.81G>T c.(79-81)GGG>GGT p.G27G 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_uc003lkb.3_Silent_p.G27G NM_032088 NP_114477 Q9Y5G5 PCDG8_HUMAN protocadherin gamma subfamily A, 8 isoform 1 27 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) GGGAAATCGGGAGGGGACAGA 0.607 22 21 --- --- --- --- PASS FCHSD1 89848 broad.mit.edu 37 5 141023886 141023886 + Missense_Mutation SNP A G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr5:141023886A>G uc003llk.2 - 17 1813 c.1762T>C c.(1762-1764)TGG>CGG p.W588R FCHSD1_uc010jgg.2_Missense_Mutation_p.W271R|FCHSD1_uc003llj.2_RNA NM_033449 NP_258260 Q86WN1 FCSD1_HUMAN FCH and double SH3 domains 1 588 SH3 2. FCHSD1/BRAF(2) skin(2)|ovary(1)|central_nervous_system(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTCCCCTCCAGAAGCCGTCA 0.627 15 27 --- --- --- --- PASS AFAP1L1 134265 broad.mit.edu 37 5 148712275 148712275 + Missense_Mutation SNP C G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr5:148712275C>G uc003lqh.2 + 17 2124 c.1993C>G c.(1993-1995)CTG>GTG p.L665V AFAP1L1_uc010jgy.2_Missense_Mutation_p.L665V|AFAP1L1_uc003lqi.1_Missense_Mutation_p.L280V NM_152406 NP_689619 Q8TED9 AF1L1_HUMAN actin filament associated protein 1-like 1 665 Potential. protein binding breast(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTAAAGGCTCTGGAAGAAGC 0.537 55 57 --- --- --- --- PASS FAT2 2196 broad.mit.edu 37 5 150897185 150897185 + Missense_Mutation SNP A C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr5:150897185A>C uc003lue.3 - 19 11472 c.11459T>G c.(11458-11460)CTG>CGG p.L3820R GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.L513R NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 3820 Extracellular (Potential).|Laminin G-like. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCTTACCTTCAGGGAGACGGA 0.557 34 53 --- --- --- --- PASS GABRG2 2566 broad.mit.edu 37 5 161580143 161580143 + Missense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr5:161580143G>T uc003lyz.3 + 9 1531 c.1173G>T c.(1171-1173)ATG>ATT p.M391I GABRG2_uc010jjc.2_Missense_Mutation_p.M439I|GABRG2_uc003lyy.3_Missense_Mutation_p.M399I|GABRG2_uc011dej.1_Missense_Mutation_p.M296I NM_000816 NP_000807 P18507 GBRG2_HUMAN gamma-aminobutyric acid A receptor, gamma 2 391 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(4)|skin(1) 5 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) CCATTCAAATGAATAATGCTA 0.478 53 67 --- --- --- --- PASS SLIT3 6586 broad.mit.edu 37 5 168199835 168199835 + Silent SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr5:168199835G>T uc003mab.2 - 14 1830 c.1410C>A c.(1408-1410)CTC>CTA p.L470L SLIT3_uc010jjg.2_Silent_p.L470L|SLIT3_uc010jji.2_Silent_p.L470L|SLIT3_uc003mac.1_Silent_p.L267L NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 470 LRRCT 2. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCTTGTTGGCGAGTCGGCGCG 0.612 41 46 --- --- --- --- PASS CANX 821 broad.mit.edu 37 5 179136000 179136000 + Silent SNP T C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr5:179136000T>C uc003mkk.2 + 6 645 c.468T>C c.(466-468)AAT>AAC p.N156N CANX_uc011dgp.1_Silent_p.N191N|CANX_uc010jlb.1_Silent_p.N92N|CANX_uc003mkl.2_Silent_p.N156N|CANX_uc011dgq.1_Silent_p.N48N NM_001746 NP_001737 P27824 CALX_HUMAN calnexin precursor 156 Lumenal (Potential). post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome calcium ion binding|sugar binding|unfolded protein binding 0 all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) ATTTCCAAAATGGAATAGAAT 0.393 38 43 --- --- --- --- PASS MRPS18B 28973 broad.mit.edu 37 6 30593547 30593547 + Silent SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr6:30593547G>A uc003nqo.2 + 7 907 c.750G>A c.(748-750)GGG>GGA p.G250G MRPS18B_uc011dml.1_3'UTR|MRPS18B_uc010jsd.1_Silent_p.G207G|C6orf134_uc003nqr.3_5'Flank|C6orf134_uc003rdc.2_5'Flank|C6orf134_uc003nqs.3_5'Flank|C6orf134_uc003rdd.2_5'Flank|C6orf134_uc003nqu.2_5'Flank|C6orf134_uc003nqt.2_5'Flank|C6orf134_uc011dmm.1_5'Flank|C6orf134_uc003nqv.2_5'Flank NM_014046 NP_054765 Q9Y676 RT18B_HUMAN mitochondrial ribosomal protein S18B precursor 250 translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome ovary(1) 1 CCTCCACTGGGCAGACAGGCC 0.443 4 44 --- --- --- --- PASS CFB 629 broad.mit.edu 37 6 31919166 31919166 + Missense_Mutation SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr6:31919166G>A uc003nyj.3 + 16 2283 c.2005G>A c.(2005-2007)GTC>ATC p.V669I CFB_uc011dor.1_Missense_Mutation_p.V1171I NM_001710 NP_001701 P00751 CFAB_HUMAN complement factor B preproprotein 669 Peptidase S1. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity skin(1) 1 CTATGACAAAGTCAAGGACAT 0.507 6 87 --- --- --- --- PASS ABCC10 89845 broad.mit.edu 37 6 43400473 43400473 + Missense_Mutation SNP A T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr6:43400473A>T uc003ouy.1 + 3 970 c.755A>T c.(754-756)CAC>CTC p.H252L ABCC10_uc003ouz.1_Missense_Mutation_p.H209L NM_033450 NP_258261 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C, member 10 252 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(6)|central_nervous_system(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) CGCCTCCCCCACAGACTGCAG 0.642 12 27 --- --- --- --- PASS TJAP1 93643 broad.mit.edu 37 6 43466750 43466750 + Missense_Mutation SNP C G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr6:43466750C>G uc003ovd.2 + 4 387 c.11C>G c.(10-12)GCC>GGC p.A4G TJAP1_uc003ovf.2_Missense_Mutation_p.A4G|TJAP1_uc003ove.2_Missense_Mutation_p.A4G|TJAP1_uc003ovc.2_Missense_Mutation_p.A4G|TJAP1_uc010jyp.2_5'UTR|TJAP1_uc011dvh.1_Missense_Mutation_p.A4G|TJAP1_uc003ovg.2_5'UTR|TJAP1_uc010jyq.2_Missense_Mutation_p.A4G|TJAP1_uc011dvi.1_Missense_Mutation_p.A4G|TJAP1_uc011dvj.1_5'Flank NM_001146016 NP_001139488 Q5JTD0 TJAP1_HUMAN tight junction associated protein 1 isoform a 4 Golgi apparatus|tight junction protein binding 0 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) ATGACTAGTGCCGCCCCTGCT 0.567 23 22 --- --- --- --- PASS EFHC1 114327 broad.mit.edu 37 6 52288907 52288907 + Missense_Mutation SNP A G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr6:52288907A>G uc003pap.3 + 2 442 c.227A>G c.(226-228)CAA>CGA p.Q76R EFHC1_uc011dwv.1_Intron|EFHC1_uc011dww.1_Missense_Mutation_p.Q57R NM_018100 NP_060570 Q5JVL4 EFHC1_HUMAN EF-hand domain (C-terminal) containing 1 76 axoneme|neuronal cell body calcium ion binding|protein C-terminus binding ovary(2)|skin(1) 3 Lung NSC(77;0.109) ACTTATGGCCAACCTAAACAA 0.512 20 29 --- --- --- --- PASS RIMS1 22999 broad.mit.edu 37 6 72892190 72892190 + Missense_Mutation SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr6:72892190C>A uc003pga.2 + 6 1093 c.1016C>A c.(1015-1017)GCG>GAG p.A339E RIMS1_uc011dyb.1_5'UTR|RIMS1_uc003pgc.2_5'UTR|RIMS1_uc003pgb.3_5'UTR NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 339 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) GAGGGCAAAGCGGCGGATGAG 0.572 6 9 --- --- --- --- PASS KIAA1009 22832 broad.mit.edu 37 6 84904694 84904694 + Missense_Mutation SNP T G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr6:84904694T>G uc010kbp.2 - 10 1032 c.935A>C c.(934-936)GAG>GCG p.E312A KIAA1009_uc003pkj.3_Missense_Mutation_p.E236A|KIAA1009_uc003pkk.2_Missense_Mutation_p.E312A|KIAA1009_uc003pki.3_5'UTR NM_014895 NP_055710 Q5TB80 QN1_HUMAN KIAA1009 protein 312 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding ovary(1) 1 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) TGTGTTACTCTCAATTTTTTG 0.373 18 15 --- --- --- --- PASS LAMA4 3910 broad.mit.edu 37 6 112452297 112452297 + Missense_Mutation SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr6:112452297C>T uc003pvu.2 - 29 4150 c.3841G>A c.(3841-3843)GTG>ATG p.V1281M LAMA4_uc003pvv.2_Missense_Mutation_p.V1274M|LAMA4_uc003pvt.2_Missense_Mutation_p.V1274M NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 1281 Laminin G-like 3. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) ATGGAGAACACGTCTGACTGA 0.418 31 54 --- --- --- --- PASS C6orf174 387104 broad.mit.edu 37 6 127797193 127797193 + Missense_Mutation SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr6:127797193G>A uc003qbd.2 - 6 2843 c.1978C>T c.(1978-1980)CGG>TGG p.R660W C6orf174_uc003qbc.2_5'Flank NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN hypothetical protein LOC387104 precursor 660 Potential. integral to membrane breast(3)|ovary(2)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161) ACGTTCCTCCGCAGCAGCTCC 0.647 19 38 --- --- --- --- PASS PTPRK 5796 broad.mit.edu 37 6 128718714 128718714 + Missense_Mutation SNP G C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr6:128718714G>C uc003qbk.2 - 2 587 c.220C>G c.(220-222)CAA>GAA p.Q74E PTPRK_uc003qbj.2_Missense_Mutation_p.Q74E|PTPRK_uc010kfc.2_Missense_Mutation_p.Q74E|PTPRK_uc011ebu.1_Missense_Mutation_p.Q74E|PTPRK_uc003qbl.1_Silent_p.P34P|PTPRK_uc011ebv.1_Missense_Mutation_p.Q74E|PTPRK_uc003qbm.3_Missense_Mutation_p.Q3E NM_002844 NP_002835 Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 74 Extracellular (Potential).|MAM. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1) 8 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) CTCTCACCTTGGGGCATCTCG 0.413 6 176 --- --- --- --- PASS LAMA2 3908 broad.mit.edu 37 6 129513893 129513893 + Missense_Mutation SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr6:129513893C>A uc003qbn.2 + 12 1782 c.1677C>A c.(1675-1677)GAC>GAA p.D559E LAMA2_uc003qbo.2_Missense_Mutation_p.D559E NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 559 Laminin IV type A 1. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CCCAGCAGGACGACTTGGACT 0.547 18 34 --- --- --- --- PASS SGK1 6446 broad.mit.edu 37 6 134495880 134495880 + Silent SNP T G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr6:134495880T>G uc003qen.3 - 1 155 c.66A>C c.(64-66)GCA>GCC p.A22A SGK1_uc003qeo.3_Intron|SGK1_uc011ect.1_5'UTR|SGK1_uc011ecu.1_Silent_p.A22A|SGK1_uc011ecv.1_Intron|SGK1_uc011ecw.1_Intron NM_005627 NP_005618 O00141 SGK1_HUMAN serum/glucocorticoid regulated kinase 1 isoform 22 Necessary for localization to the cytoplasm. apoptosis|response to stress|sodium ion transport endoplasmic reticulum|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity skin(3)|stomach(1)|lung(1)|central_nervous_system(1) 6 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847) CGATGAGAATTGCCACCATGC 0.537 OREG0017675 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 35 74 --- --- --- --- PASS MAP7 9053 broad.mit.edu 37 6 136667017 136667017 + Missense_Mutation SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr6:136667017C>A uc003qgz.2 - 17 2462 c.2216G>T c.(2215-2217)GGT>GTT p.G739V MAP7_uc011edf.1_Missense_Mutation_p.G724V|MAP7_uc011edg.1_Missense_Mutation_p.G769V|MAP7_uc010kgu.2_Missense_Mutation_p.G761V|MAP7_uc011edh.1_Missense_Mutation_p.G724V|MAP7_uc010kgv.2_Missense_Mutation_p.G761V|MAP7_uc010kgs.2_Missense_Mutation_p.G593V|MAP7_uc011edi.1_Missense_Mutation_p.G593V|MAP7_uc010kgq.1_Missense_Mutation_p.G645V|MAP7_uc003qha.1_Missense_Mutation_p.G702V NM_003980 NP_003971 Q14244 MAP7_HUMAN microtubule-associated protein 7 739 establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity 0 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) TGTCTGAACACCATCTACCTG 0.488 20 31 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152655215 152655215 + Missense_Mutation SNP T C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr6:152655215T>C uc010kiw.2 - 77 13324 c.12722A>G c.(12721-12723)GAT>GGT p.D4241G SYNE1_uc003qot.3_Missense_Mutation_p.D4170G|SYNE1_uc003qou.3_Missense_Mutation_p.D4241G|SYNE1_uc010kiz.2_5'UTR NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4241 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) GTCATGGTAATCTCTTGTTCT 0.403 HNSCC(10;0.0054) 5 110 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152665306 152665306 + Silent SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr6:152665306C>A uc010kiw.2 - 74 12737 c.12135G>T c.(12133-12135)CTG>CTT p.L4045L SYNE1_uc003qot.3_Silent_p.L3974L|SYNE1_uc003qou.3_Silent_p.L4045L|SYNE1_uc010kja.1_Silent_p.L750L NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4045 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) GGCACTGCTGCAGGGTGTCTT 0.488 HNSCC(10;0.0054) 51 56 --- --- --- --- PASS SYNJ2 8871 broad.mit.edu 37 6 158487553 158487553 + Missense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr6:158487553G>T uc003qqx.1 + 12 1678 c.1603G>T c.(1603-1605)GGG>TGG p.G535W SYNJ2_uc011efm.1_RNA|SYNJ2_uc003qqw.1_Missense_Mutation_p.G535W|SYNJ2_uc003qqy.1_Missense_Mutation_p.G248W|SYNJ2_uc011efn.1_Missense_Mutation_p.G463W|SYNJ2_uc010kjo.1_Missense_Mutation_p.G484W|SYNJ2_uc003qqz.1_Missense_Mutation_p.G152W NM_003898 NP_003889 O15056 SYNJ2_HUMAN synaptojanin 2 535 Catalytic (By similarity). nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) GATTGCTATGGGGACCTGGAA 0.567 27 50 --- --- --- --- PASS TTLL2 83887 broad.mit.edu 37 6 167754494 167754494 + Missense_Mutation SNP T A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr6:167754494T>A uc003qvs.1 + 3 1194 c.1106T>A c.(1105-1107)CTC>CAC p.L369H TTLL2_uc011egr.1_RNA NM_031949 NP_114155 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 369 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) TGCTTTGAGCTCTTTGGGTTT 0.448 90 140 --- --- --- --- PASS TRA2A 29896 broad.mit.edu 37 7 23552617 23552617 + Missense_Mutation SNP G C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr7:23552617G>C uc003swi.2 - 4 635 c.421C>G c.(421-423)CGA>GGA p.R141G TRA2A_uc011jzb.1_RNA|TRA2A_uc011jzc.1_Missense_Mutation_p.R40G|TRA2A_uc011jzd.1_Missense_Mutation_p.R40G|TRA2A_uc010kuo.1_RNA NM_013293 NP_037425 Q13595 TRA2A_HUMAN transformer-2 alpha 141 RRM. nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|RNA binding ovary(1) 1 GGTCCATATCGAGAAAATACT 0.418 40 21 --- --- --- --- PASS NOD1 10392 broad.mit.edu 37 7 30490872 30490872 + Missense_Mutation SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr7:30490872G>A uc003tav.2 - 6 2684 c.2161C>T c.(2161-2163)CGG>TGG p.R721W NM_006092 NP_006083 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain 721 LRR 2. activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity ovary(1)|skin(1) 2 TGCAGCTCCCGCACGCCGTAG 0.657 32 30 --- --- --- --- PASS FAM188B 84182 broad.mit.edu 37 7 30893027 30893027 + Missense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr7:30893027G>T uc003tbt.2 + 12 1706 c.1629G>T c.(1627-1629)TTG>TTT p.L543F FAM188B_uc010kwe.2_Missense_Mutation_p.L514F|AQP1_uc011kac.1_5'UTR NM_032222 NP_115598 Q4G0A6 F188B_HUMAN hypothetical protein LOC84182 543 0 TTCACAGTTTGACCTGCTATG 0.498 8 25 --- --- --- --- PASS AOAH 313 broad.mit.edu 37 7 36698786 36698786 + Silent SNP G C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr7:36698786G>C uc003tfh.3 - 4 776 c.375C>G c.(373-375)CTC>CTG p.L125L AOAH_uc010kxf.2_Silent_p.L125L|AOAH_uc011kba.1_Silent_p.L93L NM_001637 NP_001628 P28039 AOAH_HUMAN acyloxyacyl hydrolase precursor 125 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity skin(1) 1 GAAGAGGGTAGAGATGACACA 0.458 71 64 --- --- --- --- PASS ELMO1 9844 broad.mit.edu 37 7 37311438 37311438 + Missense_Mutation SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr7:37311438G>A uc003tfk.1 - 5 549 c.242C>T c.(241-243)CCA>CTA p.P81L ELMO1_uc011kbc.1_5'UTR|ELMO1_uc010kxg.1_Missense_Mutation_p.P81L NM_014800 NP_055615 Q92556 ELMO1_HUMAN engulfment and cell motility 1 isoform 1 81 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding ovary(3)|skin(2)|upper_aerodigestive_tract(1) 6 TCAACTTACTGGAGATGTGGT 0.358 34 89 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 7 38370123 38370123 + Missense_Mutation SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr7:38370123C>A uc010kxj.1 - 2 311 c.175G>T c.(175-177)GGG>TGG p.G59W uc010kxk.1_RNA SubName: Full=Putative uncharacterized protein ENSP00000374866; GGGGCCTTCCCCTCCTGGTGT 0.483 34 87 --- --- --- --- PASS URGCP 55665 broad.mit.edu 37 7 43918685 43918685 + Missense_Mutation SNP T C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr7:43918685T>C uc003tiw.2 - 6 434 c.377A>G c.(376-378)AAT>AGT p.N126S URGCP_uc003tiu.2_Missense_Mutation_p.N83S|URGCP_uc003tiv.2_Missense_Mutation_p.N51S|URGCP_uc003tix.2_Missense_Mutation_p.N117S|URGCP_uc003tiy.2_Missense_Mutation_p.N83S|URGCP_uc003tiz.2_Missense_Mutation_p.N83S|URGCP_uc011kbj.1_Missense_Mutation_p.N83S NM_001077663 NP_001071131 Q8TCY9 URGCP_HUMAN up-regulated gene 4 isoform 3 126 cell cycle centrosome|nucleus GTP binding ovary(2)|liver(1)|skin(1) 4 GGCATCAGCATTGAGGGCCTG 0.542 58 62 --- --- --- --- PASS ZMIZ2 83637 broad.mit.edu 37 7 44796711 44796711 + Missense_Mutation SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr7:44796711C>T uc003tlr.2 + 4 454 c.331C>T c.(331-333)CGC>TGC p.R111C ZMIZ2_uc003tlq.2_Missense_Mutation_p.R79C|ZMIZ2_uc003tls.2_Missense_Mutation_p.R111C|ZMIZ2_uc003tlt.2_5'Flank|ZMIZ2_uc010kyj.2_5'Flank NM_031449 NP_113637 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 isoform 1 111 Gly-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding ovary(2)|large_intestine(2)|breast(1) 5 CGTGTACAGCCGCGGGGGCTA 0.652 16 13 --- --- --- --- PASS CCT6A 908 broad.mit.edu 37 7 56125742 56125742 + Missense_Mutation SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr7:56125742G>A uc003trl.1 + 6 835 c.671G>A c.(670-672)AGG>AAG p.R224K PSPH_uc003trj.2_Intron|CCT6A_uc003trm.1_Missense_Mutation_p.R179K|CCT6A_uc011kcu.1_Missense_Mutation_p.R193K|SNORA15_uc003trn.1_5'Flank NM_001762 NP_001753 P40227 TCPZ_HUMAN chaperonin containing TCP1, subunit 6A isoform 224 'de novo' posttranslational protein folding cytosol ATP binding|unfolded protein binding upper_aerodigestive_tract(1) 1 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) ATGAAGAAAAGGGTGGAGGAT 0.398 18 51 --- --- --- --- PASS KIAA1324L 222223 broad.mit.edu 37 7 86526942 86526942 + Missense_Mutation SNP G C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr7:86526942G>C uc011kha.1 - 19 2750 c.2565C>G c.(2563-2565)TGC>TGG p.C855W KIAA1324L_uc003uif.1_Missense_Mutation_p.C615W|KIAA1324L_uc011kgz.1_Missense_Mutation_p.C741W|KIAA1324L_uc003uie.2_Missense_Mutation_p.C688W NM_001142749 NP_001136221 A8MWY0 K132L_HUMAN hypothetical protein LOC222223 isoform 1 855 Extracellular (Potential). integral to membrane ovary(6)|skin(1) 7 Esophageal squamous(14;0.0058) TACCTGCTGGGCACTTGCTAA 0.448 20 36 --- --- --- --- PASS RUNDC3B 154661 broad.mit.edu 37 7 87400022 87400022 + Missense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr7:87400022G>T uc003ujb.2 + 8 1217 c.806G>T c.(805-807)TGT>TTT p.C269F RUNDC3B_uc011khd.1_Missense_Mutation_p.C252F|RUNDC3B_uc011khe.1_Missense_Mutation_p.C252F|RUNDC3B_uc003ujc.2_Missense_Mutation_p.C252F|RUNDC3B_uc003ujd.2_Missense_Mutation_p.C174F NM_138290 NP_612147 Q96NL0 RUN3B_HUMAN RUN domain containing 3B isoform a 269 skin(1) 1 Esophageal squamous(14;0.00164) TTCAACAAGTGTAAGAGAGTT 0.393 13 38 --- --- --- --- PASS ZNF804B 219578 broad.mit.edu 37 7 88963673 88963673 + Silent SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr7:88963673G>T uc011khi.1 + 4 1915 c.1377G>T c.(1375-1377)ACG>ACT p.T459T NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 459 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) AATGGCCTACGGAACTTCTGC 0.428 HNSCC(36;0.09) 30 65 --- --- --- --- PASS RELN 5649 broad.mit.edu 37 7 103183274 103183274 + Missense_Mutation SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr7:103183274C>T uc003vca.2 - 43 6735 c.6575G>A c.(6574-6576)CGA>CAA p.R2192Q RELN_uc010liz.2_Missense_Mutation_p.R2192Q NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 2192 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TCCACACTTTCGAGATGGTTT 0.393 9 77 --- --- --- --- PASS PNPLA8 50640 broad.mit.edu 37 7 108155826 108155826 + Missense_Mutation SNP T C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr7:108155826T>C uc003vff.1 - 4 517 c.110A>G c.(109-111)CAT>CGT p.H37R PNPLA8_uc003vfg.1_RNA|PNPLA8_uc003vfh.1_Missense_Mutation_p.H37R|PNPLA8_uc003vfi.1_5'UTR|PNPLA8_uc003vfj.1_Missense_Mutation_p.H37R|PNPLA8_uc003vfk.1_5'UTR NM_015723 NP_056538 Q9NP80 PLPL8_HUMAN patatin-like phospholipase domain containing 8 37 fatty acid metabolic process|lipid catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity breast(2) 2 CCTCCAGTAATGCTTAGGTGA 0.368 30 22 --- --- --- --- PASS CTTNBP2 83992 broad.mit.edu 37 7 117450887 117450887 + Missense_Mutation SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr7:117450887C>A uc003vjf.2 - 3 438 c.346G>T c.(346-348)GCC>TCC p.A116S NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 116 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) TTGCAGTGGGCCATGACTGCT 0.512 83 173 --- --- --- --- PASS SMO 6608 broad.mit.edu 37 7 128845131 128845131 + Missense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr7:128845131G>T uc003vor.2 + 3 905 c.625G>T c.(625-627)GAC>TAC p.D209Y SMO_uc003vos.2_5'Flank NM_005631 NP_005622 Q99835 SMO_HUMAN smoothened precursor 209 Extracellular (Potential). adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1) 37 CTGGTACGAGGACGTGGAGGG 0.607 Mis skin basal cell 22 22 --- --- --- --- PASS NUP205 23165 broad.mit.edu 37 7 135287563 135287563 + Silent SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr7:135287563C>T uc003vsw.2 + 18 2554 c.2523C>T c.(2521-2523)CAC>CAT p.H841H NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 841 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 GGAAAAAACACCTGGAGAAAG 0.338 35 43 --- --- --- --- PASS CHRM2 1129 broad.mit.edu 37 7 136700020 136700020 + Silent SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr7:136700020C>A uc003vtf.1 + 4 1031 c.408C>A c.(406-408)ACC>ACA p.T136T CHRM2_uc003vtg.1_Silent_p.T136T|CHRM2_uc003vtj.1_Silent_p.T136T|CHRM2_uc003vtk.1_Silent_p.T136T|CHRM2_uc003vtl.1_Silent_p.T136T|CHRM2_uc003vtm.1_Silent_p.T136T|CHRM2_uc003vti.1_Silent_p.T136T|CHRM2_uc003vto.1_Silent_p.T136T|CHRM2_uc003vtn.1_Silent_p.T136T|uc003vtp.1_Intron NM_001006630 NP_001006631 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 136 Cytoplasmic (By similarity). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding ovary(4)|central_nervous_system(1) 5 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) TCAAGCGGACCACAAAAATGG 0.488 31 74 --- --- --- --- PASS TAS2R3 50831 broad.mit.edu 37 7 141464890 141464890 + Missense_Mutation SNP A G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr7:141464890A>G uc003vwp.1 + 1 994 c.932A>G c.(931-933)AAG>AGG p.K311R NM_016943 NP_058639 Q9NYW6 TA2R3_HUMAN taste receptor T2R3 311 Cytoplasmic (Potential). sensory perception of taste taste receptor activity central_nervous_system(1) 1 Melanoma(164;0.0171) CCTGGATCCAAGGGACCCATT 0.507 73 46 --- --- --- --- PASS OR2A1 346528 broad.mit.edu 37 7 144015481 144015481 + Silent SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr7:144015481C>A uc011kud.1 + 1 246 c.246C>A c.(244-246)GCC>GCA p.A82A OR2A9P_uc003wec.1_Intron NM_001001802 NP_001001802 Q8NGT9 OR2A1_HUMAN olfactory receptor, family 2, subfamily A, 88 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Melanoma(164;0.14) TGCATCCAGCCAAGCCCATCT 0.562 24 166 --- --- --- --- PASS CNTNAP2 26047 broad.mit.edu 37 7 146818253 146818253 + Missense_Mutation SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr7:146818253G>A uc003weu.1 + 6 1453 c.937G>A c.(937-939)GAG>AAG p.E313K NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 313 Laminin G-like 1.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CTTGGACTATGAGGTACATGT 0.423 HNSCC(39;0.1) 16 16 --- --- --- --- PASS ZNF786 136051 broad.mit.edu 37 7 148771626 148771626 + Silent SNP A G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr7:148771626A>G uc003wfh.2 - 3 287 c.150T>C c.(148-150)GAT>GAC p.D50D ZNF786_uc011kuk.1_Silent_p.D13D|ZNF786_uc003wfi.2_5'UTR NM_152411 NP_689624 Q8N393 ZN786_HUMAN zinc finger protein 786 50 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|skin(1) 4 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) TTGGAAGTCCATCATCTGCAC 0.418 29 25 --- --- --- --- PASS SSPO 23145 broad.mit.edu 37 7 149522134 149522134 + Missense_Mutation SNP G C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr7:149522134G>C uc010lpk.2 + 97 13921 c.13921G>C c.(13921-13923)GAG>CAG p.E4641Q SSPO_uc010lpm.1_RNA|SSPO_uc003wgg.2_Intron|SSPO_uc003wgh.2_RNA|SSPO_uc003wgi.1_Intron NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 4641 TSP type-1 23. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) ACGCTGGAGAGAGGCAGAGGC 0.647 5 22 --- --- --- --- PASS MLL3 58508 broad.mit.edu 37 7 151871312 151871312 + Missense_Mutation SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr7:151871312G>A uc003wla.2 - 39 9497 c.9278C>T c.(9277-9279)ACA>ATA p.T3093I MLL3_uc003wkz.2_Missense_Mutation_p.T2154I|MLL3_uc003wky.2_Missense_Mutation_p.T602I NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 3093 Gln-rich. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TATAGGATCTGTAATTGCATC 0.328 N medulloblastoma 24 59 --- --- --- --- PASS C8orf74 203076 broad.mit.edu 37 8 10532251 10532251 + Silent SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr8:10532251C>A uc003wtd.1 + 2 173 c.144C>A c.(142-144)CTC>CTA p.L48L C8orf74_uc003wte.1_RNA NM_001040032 NP_001035121 Q6P047 CH074_HUMAN hypothetical protein LOC203076 48 0 COAD - Colon adenocarcinoma(149;0.0811) TGGACACCCTCTACGAGAGCA 0.572 3 13 --- --- --- --- PASS ADAMDEC1 27299 broad.mit.edu 37 8 24259568 24259568 + Missense_Mutation SNP T C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr8:24259568T>C uc003xdz.2 + 12 1503 c.1283T>C c.(1282-1284)CTA>CCA p.L428P ADAMDEC1_uc010lub.2_Missense_Mutation_p.L349P|ADAMDEC1_uc011lab.1_Missense_Mutation_p.L349P NM_014479 NP_055294 O15204 ADEC1_HUMAN ADAM-like, decysin 1 isoform 1 428 Disintegrin. integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding skin(2) 2 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) AACCACCTTCTAGAAGTGGGA 0.373 55 8 --- --- --- --- PASS TEX15 56154 broad.mit.edu 37 8 30699552 30699552 + Missense_Mutation SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr8:30699552C>T uc003xil.2 - 1 6982 c.6982G>A c.(6982-6984)GAT>AAT p.D2328N NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 2328 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) ACAGTAGTATCTTGCTGTTGT 0.343 53 17 --- --- --- --- PASS TEX15 56154 broad.mit.edu 37 8 30704329 30704329 + Missense_Mutation SNP G C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr8:30704329G>C uc003xil.2 - 1 2205 c.2205C>G c.(2203-2205)AGC>AGG p.S735R NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 735 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TTCCTGTGGTGCTTTCCAAAA 0.388 44 12 --- --- --- --- PASS CHD7 55636 broad.mit.edu 37 8 61766950 61766950 + Missense_Mutation SNP T A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr8:61766950T>A uc003xue.2 + 32 7281 c.6804T>A c.(6802-6804)TTT>TTA p.F2268L NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2268 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) GGAAGAATTTTGATGAAGAAA 0.438 18 42 --- --- --- --- PASS MRPS28 28957 broad.mit.edu 37 8 80831357 80831357 + Missense_Mutation SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr8:80831357C>T uc003ybp.2 - 3 445 c.422G>A c.(421-423)CGG>CAG p.R141Q MRPS28_uc003ybo.2_Missense_Mutation_p.R50Q|TPD52_uc010lzr.2_RNA NM_014018 NP_054737 Q9Y2Q9 RT28_HUMAN mitochondrial ribosomal protein S28 141 mitochondrial small ribosomal subunit 0 Lung NSC(7;1.86e-06)|all_lung(9;6.91e-06) BRCA - Breast invasive adenocarcinoma(6;0.00769)|Epithelial(68;0.0208)|all cancers(69;0.0805) TAGCCGCAACCGGACCCTGGT 0.373 98 56 --- --- --- --- PASS FAM82B 51115 broad.mit.edu 37 8 87498812 87498812 + Missense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr8:87498812G>T uc003ydu.2 - 4 556 c.396C>A c.(394-396)AGC>AGA p.S132R FAM82B_uc011lfz.1_Missense_Mutation_p.S132R|FAM82B_uc011lga.1_Missense_Mutation_p.S132R NM_016033 NP_057117 Q96DB5 RMD1_HUMAN regulator of microtubule dynamics 1 132 microtubule|spindle pole binding ovary(1) 1 CTGAGGTTCTGCTAAGCTGAG 0.388 55 47 --- --- --- --- PASS DCAF4L2 138009 broad.mit.edu 37 8 88885715 88885715 + Nonsense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr8:88885715G>T uc003ydz.2 - 1 582 c.485C>A c.(484-486)TCG>TAG p.S162* NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 162 ovary(1) 1 TATGAACAGCGACGCTGGGAG 0.572 77 48 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113266518 113266518 + Silent SNP A T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr8:113266518A>T uc003ynu.2 - 63 10233 c.10074T>A c.(10072-10074)CCT>CCA p.P3358P CSMD3_uc003yns.2_Silent_p.P2560P|CSMD3_uc003ynt.2_Silent_p.P3318P|CSMD3_uc011lhx.1_Silent_p.P3189P NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3358 Extracellular (Potential).|Sushi 27. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 ATCCATGCCGAGGCACACCTG 0.373 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 169 306 --- --- --- --- PASS ADCY8 114 broad.mit.edu 37 8 131812681 131812681 + Missense_Mutation SNP G C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr8:131812681G>C uc003ytd.3 - 15 3307 c.3051C>G c.(3049-3051)GAC>GAG p.D1017E ADCY8_uc010mds.2_Missense_Mutation_p.D886E NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 1017 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CCTCATCGAAGTCAGCAATGA 0.403 HNSCC(32;0.087) 112 85 --- --- --- --- PASS TG 7038 broad.mit.edu 37 8 133899251 133899251 + Missense_Mutation SNP A G G rs145429573 TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr8:133899251A>G uc003ytw.2 + 9 1675 c.1634A>G c.(1633-1635)AAT>AGT p.N545S NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 545 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GGTACTATGAATAAGCCAACT 0.453 46 85 --- --- --- --- PASS PLEC 5339 broad.mit.edu 37 8 144993616 144993616 + Missense_Mutation SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr8:144993616C>A uc003zaf.1 - 32 10954 c.10784G>T c.(10783-10785)CGG>CTG p.R3595L PLEC_uc003zab.1_Missense_Mutation_p.R3458L|PLEC_uc003zac.1_Missense_Mutation_p.R3462L|PLEC_uc003zad.2_Missense_Mutation_p.R3458L|PLEC_uc003zae.1_Missense_Mutation_p.R3426L|PLEC_uc003zag.1_Missense_Mutation_p.R3436L|PLEC_uc003zah.2_Missense_Mutation_p.R3444L|PLEC_uc003zaj.2_Missense_Mutation_p.R3485L NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3595 Plectin 14.|Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 GCCGTGCTGCCGGAGAACCAG 0.682 41 85 --- --- --- --- PASS GRINA 2907 broad.mit.edu 37 8 145066865 145066865 + Silent SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr8:145066865C>T uc003zan.1 + 7 1138 c.972C>T c.(970-972)CTC>CTT p.L324L GRINA_uc003zao.1_Silent_p.L324L|GRINA_uc003zap.1_Silent_p.L324L NM_001009184 NP_001009184 Q7Z429 GRINA_HUMAN glutamate receptor, ionotropic, N-methyl 324 Helical; (Potential). integral to membrane central_nervous_system(1) 1 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TCCAGTTCCTCGCAGTGGACA 0.592 9 65 --- --- --- --- PASS ZDHHC21 340481 broad.mit.edu 37 9 14619681 14619681 + Splice_Site SNP C G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr9:14619681C>G uc003zli.2 - 9 1092 c.622_splice c.e9-1 p.D208_splice ZDHHC21_uc003zlg.1_Intron NM_178566 NP_848661 Q8IVQ6 ZDH21_HUMAN zinc finger, DHHC-type containing 21 nitric oxide metabolic process|regulation of nitric-oxide synthase activity Golgi membrane|integral to membrane palmitoyltransferase activity|zinc ion binding 0 GBM - Glioblastoma multiforme(50;4.31e-06) ATGTTGTATCCtattaaaaat 0.234 4 77 --- --- --- --- PASS MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr9:20414340G>A uc003zoe.2 - 5 763 c.504C>T c.(502-504)AGC>AGT p.S168S MLLT3_uc011lne.1_Silent_p.S136S|MLLT3_uc011lnf.1_Silent_p.S165S|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Missense_Mutation_p.A130V NM_004529 NP_004520 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.144 T MLL ALL 5 92 --- --- --- --- PASS TRPM3 80036 broad.mit.edu 37 9 73442928 73442928 + Missense_Mutation SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr9:73442928G>A uc004aid.2 - 6 1052 c.808C>T c.(808-810)CGG>TGG p.R270W TRPM3_uc004ahu.2_Missense_Mutation_p.R100W|TRPM3_uc004ahv.2_Missense_Mutation_p.R100W|TRPM3_uc004ahw.2_Missense_Mutation_p.R117W|TRPM3_uc004ahx.2_Missense_Mutation_p.R117W|TRPM3_uc004ahy.2_Missense_Mutation_p.R117W|TRPM3_uc004ahz.2_Missense_Mutation_p.R117W|TRPM3_uc004aia.2_Missense_Mutation_p.R117W|TRPM3_uc004aib.2_Missense_Mutation_p.R117W|TRPM3_uc004aic.2_Missense_Mutation_p.R270W|TRPM3_uc010mor.2_Missense_Mutation_p.R270W|TRPM3_uc004aie.2_Missense_Mutation_p.R117W|TRPM3_uc004aif.2_Missense_Mutation_p.R117W|TRPM3_uc004aig.2_Missense_Mutation_p.R117W|TRPM3_uc004aii.2_Missense_Mutation_p.R272W NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 270 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 TGGTATGGCCGGACAACCTGC 0.453 4 117 --- --- --- --- PASS GOLM1 51280 broad.mit.edu 37 9 88655734 88655734 + Silent SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr9:88655734G>T uc004aol.2 - 6 715 c.517C>A c.(517-519)CGA>AGA p.R173R GOLM1_uc010mqd.1_RNA|GOLM1_uc004aom.2_Silent_p.R173R NM_016548 NP_057632 Q8NBJ4 GOLM1_HUMAN golgi membrane protein 1 173 Potential.|Lumenal (Potential). Golgi apparatus|integral to plasma membrane 0 TCTTCTATTCGCTCCTCACAC 0.483 69 6 --- --- --- --- PASS RNF20 56254 broad.mit.edu 37 9 104324230 104324230 + Silent SNP A G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr9:104324230A>G uc004bbn.2 + 19 2778 c.2688A>G c.(2686-2688)ACA>ACG p.T896T NM_019592 NP_062538 Q5VTR2 BRE1A_HUMAN ring finger protein 20 896 Potential. histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process nucleolus|ubiquitin ligase complex histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1) 8 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) TGGAGACCACAAAGAAACCAG 0.388 122 27 --- --- --- --- PASS OR13F1 138805 broad.mit.edu 37 9 107266756 107266756 + Silent SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr9:107266756C>A uc011lvm.1 + 1 213 c.213C>A c.(211-213)ATC>ATA p.I71I NM_001004485 NP_001004485 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, 71 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1)|skin(1) 3 TTCTGGACATCTGGTACTCCT 0.493 83 26 --- --- --- --- PASS ASTN2 23245 broad.mit.edu 37 9 119858403 119858403 + Missense_Mutation SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr9:119858403C>A uc004bjs.1 - 5 1297 c.1196G>T c.(1195-1197)GGG>GTG p.G399V ASTN2_uc004bjr.1_Missense_Mutation_p.G399V|ASTN2_uc004bjt.1_Missense_Mutation_p.G348V NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 399 Cytoplasmic (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 GCCCGACGTCCCCTTGGCTCT 0.542 24 5 --- --- --- --- PASS DBC1 1620 broad.mit.edu 37 9 121930121 121930121 + Missense_Mutation SNP C G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr9:121930121C>G uc004bkc.2 - 8 1983 c.1527G>C c.(1525-1527)GAG>GAC p.E509D NM_014618 NP_055433 O60477 DBC1_HUMAN deleted in bladder cancer 1 precursor 509 cell cycle arrest|cell death cytoplasm protein binding skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1) 8 CGAGGCGGATCTCGTTGCTGA 0.557 30 9 --- --- --- --- PASS CDK5RAP2 55755 broad.mit.edu 37 9 123156817 123156817 + Missense_Mutation SNP G C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr9:123156817G>C uc004bkf.2 - 36 5732 c.5551C>G c.(5551-5553)CGC>GGC p.R1851G CDK5RAP2_uc010mvi.2_Missense_Mutation_p.R860G|CDK5RAP2_uc004bke.2_Missense_Mutation_p.R1136G|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.R1772G|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.R1116G|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.R1116G|CDK5RAP2_uc011lya.1_Missense_Mutation_p.R1116G|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.R1621G NM_018249 NP_060719 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 1851 Interaction with PCNT and AKAP9. brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding ovary(2)|lung(1)|skin(1) 4 TTTTCCTGGCGCTTGCTCAGC 0.478 45 13 --- --- --- --- PASS DPM2 8818 broad.mit.edu 37 9 130699797 130699797 + Silent SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr9:130699797C>A uc004bsv.2 - 2 673 c.9G>T c.(7-9)ACG>ACT p.T3T NM_003863 NP_003854 O94777 DPM2_HUMAN dolichyl-phosphate mannosyltransferase 2 3 C-terminal protein lipidation|dolichol-linked oligosaccharide biosynthetic process|preassembly of GPI anchor in ER membrane|protein N-linked glycosylation via asparagine|protein O-linked mannosylation|regulation of protein stability dolichol-phosphate-mannose synthase complex|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to endoplasmic reticulum membrane protein binding 0 GGTCTGTCCCCGTGGCCTGGA 0.592 26 4 --- --- --- --- PASS WDR85 92715 broad.mit.edu 37 9 140468735 140468735 + Missense_Mutation SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr9:140468735C>T uc004cnk.1 - 5 723 c.565G>A c.(565-567)GCC>ACC p.A189T WDR85_uc004cnl.1_Missense_Mutation_p.A13T|WDR85_uc004cnm.1_5'UTR|WDR85_uc004cnn.1_Intron NM_138778 NP_620133 Q9BTV6 WDR85_HUMAN WD repeat domain 85 189 peptidyl-diphthamide biosynthetic process from peptidyl-histidine 0 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.00029)|Epithelial(140;0.000509) TGCCATGAGGCCACTTTCTGC 0.547 7 106 --- --- --- --- PASS APBB1IP 54518 broad.mit.edu 37 10 26849102 26849102 + Missense_Mutation SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr10:26849102C>A uc001iss.2 + 12 1545 c.1224C>A c.(1222-1224)AAC>AAA p.N408K NM_019043 NP_061916 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, 408 PH. blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium lung(4)|skin(2)|central_nervous_system(1) 7 GAACCCTTAACCAGTGGGTCA 0.493 15 79 --- --- --- --- PASS APBB1IP 54518 broad.mit.edu 37 10 26849103 26849103 + Nonsense_Mutation SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr10:26849103C>T uc001iss.2 + 12 1546 c.1225C>T c.(1225-1227)CAG>TAG p.Q409* NM_019043 NP_061916 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, 409 PH. blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium lung(4)|skin(2)|central_nervous_system(1) 7 AACCCTTAACCAGTGGGTCAT 0.493 13 79 --- --- --- --- PASS APBB1IP 54518 broad.mit.edu 37 10 26849116 26849116 + Missense_Mutation SNP G C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr10:26849116G>C uc001iss.2 + 12 1559 c.1238G>C c.(1237-1239)GGA>GCA p.G413A NM_019043 NP_061916 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, 413 PH. blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium lung(4)|skin(2)|central_nervous_system(1) 7 TGGGTCATGGGAATACGGATA 0.498 9 66 --- --- --- --- PASS MKX 283078 broad.mit.edu 37 10 28024303 28024303 + Missense_Mutation SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr10:28024303C>T uc001ity.3 - 4 574 c.349G>A c.(349-351)GTG>ATG p.V117M MKX_uc001itx.3_Missense_Mutation_p.V117M NM_173576 NP_775847 Q8IYA7 MKX_HUMAN mohawk homeobox 117 Homeobox; TALE-type. muscle organ development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 CAATTTGACACCTAAAACAGT 0.358 24 56 --- --- --- --- PASS ARMC4 55130 broad.mit.edu 37 10 28151364 28151364 + Missense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr10:28151364G>T uc009xky.2 - 18 2896 c.2798C>A c.(2797-2799)ACA>AAA p.T933K ARMC4_uc010qds.1_Missense_Mutation_p.T458K|ARMC4_uc010qdt.1_Missense_Mutation_p.T625K|ARMC4_uc001itz.2_Missense_Mutation_p.T933K NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 933 ARM 8. binding ovary(4)|skin(2) 6 GTTACTTACTGTATTTGCCAG 0.244 35 48 --- --- --- --- PASS ASAH2 56624 broad.mit.edu 37 10 52005134 52005134 + Missense_Mutation SNP T A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr10:52005134T>A uc001jjd.2 - 2 208 c.208A>T c.(208-210)ACC>TCC p.T70S ASAH2_uc009xos.2_Missense_Mutation_p.T70S NM_019893 NP_063946 Q9NR71 ASAH2_HUMAN N-acylsphingosine amidohydrolase 2 isoform a 70 Lumenal (Potential). apoptosis|ceramide metabolic process|signal transduction integral to membrane|mitochondrion|plasma membrane ceramidase activity 0 GAATGCTGGGTGGCTGTGGAG 0.517 51 29 --- --- --- --- PASS DKK1 22943 broad.mit.edu 37 10 54074771 54074771 + Missense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr10:54074771G>T uc001jjr.2 + 2 486 c.332G>T c.(331-333)TGT>TTT p.C111F uc001jjq.1_5'Flank|uc009xox.1_5'Flank NM_012242 NP_036374 O94907 DKK1_HUMAN dickkopf homolog 1 precursor 111 DKK-type Cys-1. negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization extracellular space|plasma membrane growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity ovary(1)|lung(1)|kidney(1) 3 GTGCAAATCTGTCTCGCCTGC 0.607 OREG0020191 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 24 --- --- --- --- PASS TSPAN15 23555 broad.mit.edu 37 10 71265996 71265996 + Missense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr10:71265996G>T uc001jpo.1 + 7 860 c.735G>T c.(733-735)CAG>CAT p.Q245H NM_012339 NP_036471 O95858 TSN15_HUMAN transmembrane 4 superfamily member 15 245 Helical; (Potential). integral to plasma membrane|membrane fraction 0 TGCTTCCCCAGGTGGGCAGGC 0.557 24 33 --- --- --- --- PASS NEUROG3 50674 broad.mit.edu 37 10 71332658 71332658 + Missense_Mutation SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr10:71332658C>T uc001jpp.2 - 2 300 c.142G>A c.(142-144)GAG>AAG p.E48K NM_020999 NP_066279 Q9Y4Z2 NGN3_HUMAN neurogenin 3 48 central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus transcription coactivator activity 0 TCTTCCGCCTCTGCGCAGTTC 0.721 6 20 --- --- --- --- PASS ECD 11319 broad.mit.edu 37 10 74899087 74899087 + Silent SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr10:74899087G>A uc001jtn.2 - 11 1644 c.1401C>T c.(1399-1401)CAC>CAT p.H467H ECD_uc009xqx.2_Silent_p.H500H|ECD_uc009xqy.2_Silent_p.H424H|ECD_uc001jto.2_Silent_p.H166H NM_007265 NP_009196 O95905 SGT1_HUMAN suppressor of S. cerevisiae gcr2 isoform 1 467 regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus transcription coactivator activity pancreas(1) 1 Prostate(51;0.0119) CTGCTCCCTTGTGGGTTGAGA 0.393 11 67 --- --- --- --- PASS C10orf12 26148 broad.mit.edu 37 10 98743831 98743831 + Missense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr10:98743831G>T uc001kmv.2 + 1 2791 c.2684G>T c.(2683-2685)CGC>CTC p.R895L NM_015652 NP_056467 Q8N655 CJ012_HUMAN hypothetical protein LOC26148 895 skin(2) 2 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) CTCAATACTCGCCTTCCAGGA 0.433 31 54 --- --- --- --- PASS SORCS3 22986 broad.mit.edu 37 10 107005322 107005322 + Missense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr10:107005322G>T uc001kyi.1 + 21 3118 c.2891G>T c.(2890-2892)AGC>ATC p.S964I SORCS3_uc010qqz.1_RNA NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 964 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) TTGGACAGCAGCATTTCCTTC 0.448 52 57 --- --- --- --- PASS SORCS3 22986 broad.mit.edu 37 10 107016620 107016620 + Missense_Mutation SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr10:107016620G>A uc001kyi.1 + 25 3608 c.3381G>A c.(3379-3381)ATG>ATA p.M1127I NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 1127 Helical; (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GCTCAGCCATGCTTATGCTAT 0.428 39 26 --- --- --- --- PASS PPAPDC1A 196051 broad.mit.edu 37 10 122334709 122334709 + Missense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr10:122334709G>T uc001lev.1 + 6 864 c.512G>T c.(511-513)AGT>ATT p.S171I PPAPDC1A_uc010qtd.1_Missense_Mutation_p.S171I|PPAPDC1A_uc009xzl.1_Missense_Mutation_p.S108I|PPAPDC1A_uc001lew.1_Missense_Mutation_p.V78L|PPAPDC1A_uc001lex.1_Intron|PPAPDC1A_uc001ley.1_Missense_Mutation_p.S50I NM_001030059 NP_001025230 Q5VZY2 PPC1A_HUMAN phosphatidic acid phosphatase type 2 domain 171 phospholipid dephosphorylation integral to membrane phosphatidate phosphatase activity breast(1) 1 Lung NSC(174;0.1)|all_lung(145;0.132) all cancers(201;0.0117) TTCACCGAGAGTGGGCGGGGA 0.577 59 43 --- --- --- --- PASS C10orf93 255352 broad.mit.edu 37 10 134743117 134743117 + Missense_Mutation SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr10:134743117C>A uc001llt.1 - 9 1134 c.1058G>T c.(1057-1059)AGG>ATG p.R353M NM_173572 NP_775843 Q5SR76 CJ093_HUMAN hypothetical protein LOC255352 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment binding pancreas(1) 1 all_cancers(35;1.8e-07)|all_epithelial(44;6.22e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Colorectal(31;0.119)|Glioma(114;0.172)|Melanoma(40;0.175) Epithelial(32;4.28e-05)|OV - Ovarian serous cystadenocarcinoma(35;4.31e-05)|all cancers(32;5.02e-05) GGGCCGTGGCCTGGTGAACTG 0.443 85 47 --- --- --- --- PASS KNDC1 85442 broad.mit.edu 37 10 135000076 135000076 + Silent SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr10:135000076C>A uc001llz.1 + 6 1225 c.1224C>A c.(1222-1224)GCC>GCA p.A408A KNDC1_uc001lma.1_Silent_p.A343A NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) 408 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) CAGCAGAGGCCCCTGCAGACC 0.672 6 53 --- --- --- --- PASS FRG2B 441581 broad.mit.edu 37 10 135440199 135440199 + Missense_Mutation SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr10:135440199C>A uc010qvg.1 - 1 101 c.48G>T c.(46-48)CAG>CAT p.Q16H NM_001080998 NP_001074467 Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 16 nucleus 0 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) CAGTGGAGCACTGGATGGAGG 0.512 22 348 --- --- --- --- PASS RASSF7 8045 broad.mit.edu 37 11 563234 563234 + Missense_Mutation SNP T A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr11:563234T>A uc001lqc.2 + 4 903 c.868T>A c.(868-870)TGC>AGC p.C290S C11orf35_uc001lpx.2_5'Flank|RASSF7_uc001lqa.2_Missense_Mutation_p.C290S|RASSF7_uc001lqb.2_Missense_Mutation_p.C290S|RASSF7_uc001lqd.2_Missense_Mutation_p.C290S NM_003475 NP_003466 Q02833 RASF7_HUMAN Ras association (RalGDS/AF-6) domain family 290 Potential. regulation of transcription, DNA-dependent|signal transduction nucleus DNA binding|protein binding skin(1) 1 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCTCCGTCAGTGCAACCTGCA 0.657 22 2 --- --- --- --- PASS OR52J3 119679 broad.mit.edu 37 11 5068285 5068285 + Missense_Mutation SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr11:5068285C>A uc010qyv.1 + 1 530 c.530C>A c.(529-531)GCC>GAC p.A177D NM_001001916 NP_001001916 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, 177 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|lung(1)|skin(1) 3 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) CACATAATAGCCCATTCCTAC 0.423 59 10 --- --- --- --- PASS OR56A4 120793 broad.mit.edu 37 11 6023918 6023918 + Missense_Mutation SNP A T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr11:6023918A>T uc010qzv.1 - 1 461 c.461T>A c.(460-462)CTC>CAC p.L154H NM_001005179 NP_001005179 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, 102 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAACATCTGGAGGAAGCAGGC 0.532 32 11 --- --- --- --- PASS OR4C13 283092 broad.mit.edu 37 11 49974874 49974874 + Nonsense_Mutation SNP T A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr11:49974874T>A uc010rhz.1 + 1 900 c.900T>A c.(898-900)TGT>TGA p.C300* NM_001001955 NP_001001955 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, 300 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(1) 4 GGAAATTGTGTAGTAGGAAAG 0.388 23 6 --- --- --- --- PASS TRIM48 79097 broad.mit.edu 37 11 55032389 55032389 + Missense_Mutation SNP G C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr11:55032389G>C uc010rid.1 + 2 144 c.58G>C c.(58-60)GGA>CGA p.G20R NM_024114 NP_077019 Q8IWZ4 TRI48_HUMAN tripartite motif-containing 48 4 intracellular zinc ion binding 0 CATGAATTCTGGAATCTCGCA 0.468 170 8 --- --- --- --- PASS OR4C6 219432 broad.mit.edu 37 11 55433053 55433053 + Silent SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr11:55433053G>T uc001nht.3 + 3 676 c.411G>T c.(409-411)CGG>CGT p.R137R OR4C6_uc010rik.1_Silent_p.R137R NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 137 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 TGAGTCCACGGGTGTGCTGCC 0.512 7 61 --- --- --- --- PASS OR5W2 390148 broad.mit.edu 37 11 55681456 55681456 + Silent SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr11:55681456G>T uc010rir.1 - 1 603 c.603C>A c.(601-603)ACC>ACA p.T201T NM_001001960 NP_001001960 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, 201 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 AACCAAAGACGGTGAATAACA 0.388 31 40 --- --- --- --- PASS LRRC55 219527 broad.mit.edu 37 11 56954748 56954748 + Missense_Mutation SNP C G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr11:56954748C>G uc001njl.1 + 2 967 c.820C>G c.(820-822)CCT>GCT p.P274A LRRC55_uc001njm.1_5'Flank NM_001005210 NP_001005210 Q6ZSA7 LRC55_HUMAN leucine rich repeat containing 55 244 LRRCT. integral to membrane 0 CCGGGGCCCTCCTGAAGTCGA 0.587 45 73 --- --- --- --- PASS PRG2 5553 broad.mit.edu 37 11 57155270 57155270 + Missense_Mutation SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr11:57155270C>A uc001njz.2 - 4 594 c.567G>T c.(565-567)CAG>CAT p.Q189H PRG2_uc001njw.1_RNA|PRG2_uc001njx.1_RNA|PRG2_uc001njy.1_RNA|PRG2_uc001nka.2_Missense_Mutation_p.Q189H|PRG2_uc001nkb.2_Missense_Mutation_p.Q189H|PRG2_uc001nkd.2_Missense_Mutation_p.Q178H|PRG2_uc001nkc.2_Missense_Mutation_p.Q189H|PRG2_uc001nke.2_Missense_Mutation_p.Q469H NM_002728 NP_002719 P13727 PRG2_HUMAN proteoglycan 2 preproprotein 189 C-type lectin. defense response to bacterium|immune response extracellular region|transport vesicle heparin binding|sugar binding central_nervous_system(1) 1 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) Sargramostim(DB00020) GGGACCAGGGCTGGTGAGCAG 0.622 7 13 --- --- --- --- PASS OR9Q2 219957 broad.mit.edu 37 11 57958004 57958004 + Silent SNP T C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr11:57958004T>C uc010rka.1 + 1 42 c.42T>C c.(40-42)CTT>CTC p.L14L NM_001005283 NP_001005283 Q8NGE9 OR9Q2_HUMAN olfactory receptor, family 9, subfamily Q, 14 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1)|central_nervous_system(1) 4 Breast(21;0.0589) AGTTCTTCCTTACTGCATTTA 0.478 55 68 --- --- --- --- PASS OR4D11 219986 broad.mit.edu 37 11 59271742 59271742 + Missense_Mutation SNP G C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr11:59271742G>C uc001noa.1 + 1 694 c.694G>C c.(694-696)GGC>CGC p.G232R NM_001004706 NP_001004706 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, 232 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GGCAGGAGGGGGCAGGAGGAA 0.542 47 182 --- --- --- --- PASS OR10V1 390201 broad.mit.edu 37 11 59480597 59480597 + Missense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr11:59480597G>T uc001nof.1 - 1 722 c.722C>A c.(721-723)ACC>AAC p.T241N NM_001005324 NP_001005324 Q8NGI7 O10V1_HUMAN olfactory receptor, family 10, subfamily V, 241 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AGAAGAGCAGGTAGAGTAGGC 0.532 37 50 --- --- --- --- PASS SCGB1D1 10648 broad.mit.edu 37 11 61960877 61960877 + Missense_Mutation SNP A G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr11:61960877A>G uc001nsz.1 + 3 297 c.250A>G c.(250-252)ATA>GTA p.I84V NM_006552 NP_006543 O95968 SG1D1_HUMAN lipophilin A precursor 84 extracellular space binding skin(1) 1 TCAGGGAAAAATAGCAGAGAA 0.413 36 46 --- --- --- --- PASS ADRBK1 156 broad.mit.edu 37 11 67046935 67046935 + Missense_Mutation SNP G A A rs71640262 TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr11:67046935G>A uc009yrn.1 + 4 577 c.311G>A c.(310-312)CGC>CAC p.R104H ADRBK1_uc009yrm.1_Missense_Mutation_p.R104H NM_001619 NP_001610 P25098 ARBK1_HUMAN beta-adrenergic receptor kinase 1 104 RGS.|N-terminal. activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway cytosol|soluble fraction alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity large_intestine(1) 1 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) Adenosine triphosphate(DB00171) CGTGTGGCCCGCAGCCGGGAG 0.597 7 65 --- --- --- --- PASS ODZ4 26011 broad.mit.edu 37 11 78381477 78381477 + Silent SNP T A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr11:78381477T>A uc001ozl.3 - 32 6376 c.5913A>T c.(5911-5913)TCA>TCT p.S1971S ODZ4_uc001ozk.3_Silent_p.S196S|ODZ4_uc009yvb.1_Silent_p.S555S NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 1971 Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 AGTAGCCCACTGAGCGGATGG 0.542 44 46 --- --- --- --- PASS CCDC83 220047 broad.mit.edu 37 11 85597249 85597249 + Missense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr11:85597249G>T uc001pbh.1 + 5 862 c.350G>T c.(349-351)CGC>CTC p.R117L CCDC83_uc001pbg.1_Missense_Mutation_p.R117L|CCDC83_uc001pbi.1_RNA|CCDC83_uc001pbj.1_Intron NM_173556 NP_775827 Q8IWF9 CCD83_HUMAN coiled-coil domain containing 83 117 Potential. skin(1) 1 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) ACAGATATGCGCATGCAAATA 0.333 13 23 --- --- --- --- PASS CCDC83 220047 broad.mit.edu 37 11 85627158 85627158 + Missense_Mutation SNP A G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr11:85627158A>G uc001pbh.1 + 10 1474 c.962A>G c.(961-963)CAT>CGT p.H321R CCDC83_uc001pbg.1_Missense_Mutation_p.H352R|CCDC83_uc001pbi.1_RNA|CCDC83_uc001pbj.1_Missense_Mutation_p.H221R NM_173556 NP_775827 Q8IWF9 CCD83_HUMAN coiled-coil domain containing 83 321 skin(1) 1 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) CATCTTAGTCATGAAAATAGC 0.383 133 116 --- --- --- --- PASS MAML2 84441 broad.mit.edu 37 11 95825738 95825738 + Missense_Mutation SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr11:95825738C>T uc001pfw.1 - 2 2742 c.1457G>A c.(1456-1458)GGT>GAT p.G486D NM_032427 NP_115803 Q8IZL2 MAML2_HUMAN mastermind-like 2 486 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC1/MAML2(516)|CRTC3/MAML2(26) salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1) 546 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) TGTCTGCTGACCAAAAGAAGG 0.537 T MECT1|CRTC3 salivary gland mucoepidermoid 51 72 --- --- --- --- PASS MMP27 64066 broad.mit.edu 37 11 102565727 102565727 + Missense_Mutation SNP T A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr11:102565727T>A uc001phd.1 - 7 1027 c.1004A>T c.(1003-1005)AAC>ATC p.N335I NM_022122 NP_071405 Q9H306 MMP27_HUMAN matrix metalloproteinase 27 precursor 335 Hemopexin-like 2. collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176) BRCA - Breast invasive adenocarcinoma(274;0.0151) ATCTCTGGGGTTCTCGTATGC 0.448 4 55 --- --- --- --- PASS SIK3 23387 broad.mit.edu 37 11 116744752 116744752 + Missense_Mutation SNP A G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr11:116744752A>G uc001ppy.2 - 12 1310 c.1274T>C c.(1273-1275)CTG>CCG p.L425P SIK3_uc001ppz.2_Missense_Mutation_p.L324P|SIK3_uc001pqa.2_Missense_Mutation_p.L377P NM_025164 NP_079440 Q9Y2K2 SIK3_HUMAN serine/threonine-protein kinase QSK 425 cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1) 12 GAGCTTCTGCAGATCTTCCAT 0.453 64 63 --- --- --- --- PASS PHLDB1 23187 broad.mit.edu 37 11 118498595 118498595 + Silent SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr11:118498595G>A uc001ptr.1 + 7 1409 c.1056G>A c.(1054-1056)CTG>CTA p.L352L PHLDB1_uc010ryh.1_Silent_p.L351L|PHLDB1_uc001pts.2_Silent_p.L352L|PHLDB1_uc001ptt.2_Silent_p.L352L|PHLDB1_uc001ptu.1_Intron|PHLDB1_uc001ptv.1_Silent_p.L152L|PHLDB1_uc001ptw.1_5'Flank NM_015157 NP_055972 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, 352 0 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) GCCCCCGGCTGGGTGGGCAGC 0.647 12 53 --- --- --- --- PASS SORL1 6653 broad.mit.edu 37 11 121391474 121391474 + Silent SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr11:121391474G>A uc001pxx.2 + 9 1400 c.1320G>A c.(1318-1320)TCG>TCA p.S440S NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 440 Extracellular (Potential). cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1) 15 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) ACATGAGATCGGTCATCACCT 0.438 44 38 --- --- --- --- PASS CHEK1 1111 broad.mit.edu 37 11 125496665 125496665 + Missense_Mutation SNP T C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr11:125496665T>C uc009zbo.2 + 2 894 c.2T>C c.(1-3)ATG>ACG p.M1T CHEK1_uc010sbh.1_Missense_Mutation_p.W92R|CHEK1_uc010sbi.1_Missense_Mutation_p.M1T|CHEK1_uc001qcf.3_Missense_Mutation_p.M1T|CHEK1_uc009zbp.2_Missense_Mutation_p.M1T|CHEK1_uc001qcg.3_Missense_Mutation_p.M1T|CHEK1_uc009zbq.2_Missense_Mutation_p.M1T|CHEK1_uc001qci.1_RNA NM_001114122 NP_001107594 O14757 CHK1_HUMAN checkpoint kinase 1 1 cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence condensed nuclear chromosome|microtubule organizing center|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(3)|lung(2)|skin(1) 6 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748) GGTGGAGTCATGGCAGTGCCC 0.532 Other_conserved_DNA_damage_response_genes OREG0021478 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 64 82 --- --- --- --- PASS IQSEC3 440073 broad.mit.edu 37 12 275002 275002 + Missense_Mutation SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr12:275002G>A uc001qhw.1 + 8 2014 c.2008G>A c.(2008-2010)GAC>AAC p.D670N IQSEC3_uc001qhu.1_Missense_Mutation_p.D670N NM_015232 NP_056047 Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 973 Potential.|PH. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|large_intestine(1)|skin(1) 4 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) GTTCGTGGAGGACCTGAAGGA 0.597 3 36 --- --- --- --- PASS SLC6A13 6540 broad.mit.edu 37 12 347143 347143 + Missense_Mutation SNP G C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr12:347143G>C uc001qic.1 - 5 565 c.512C>G c.(511-513)TCC>TGC p.S171C SLC6A13_uc009zdj.1_Missense_Mutation_p.S171C|SLC6A13_uc010sdl.1_Missense_Mutation_p.S79C|SLC6A13_uc010sdm.1_Missense_Mutation_p.S52C NM_016615 NP_057699 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter 171 Extracellular (Potential). neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) ACCATTCAGGGAGCCGTTGGT 0.517 18 109 --- --- --- --- PASS CD163 9332 broad.mit.edu 37 12 7640453 7640453 + Missense_Mutation SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr12:7640453C>T uc001qsz.3 - 7 1779 c.1651G>A c.(1651-1653)GAG>AAG p.E551K CD163_uc001qta.3_Missense_Mutation_p.E551K|CD163_uc009zfw.2_Missense_Mutation_p.E551K NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 551 SRCR 5.|Extracellular (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 AGATGGGACTCATGTCCCTCA 0.522 64 23 --- --- --- --- PASS PTPRO 5800 broad.mit.edu 37 12 15702086 15702086 + Missense_Mutation SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr12:15702086C>A uc001rcv.1 + 14 2537 c.2363C>A c.(2362-2364)GCC>GAC p.A788D PTPRO_uc001rcw.1_Missense_Mutation_p.A788D|PTPRO_uc001rcx.1_5'UTR|PTPRO_uc001rcy.1_5'UTR|PTPRO_uc001rcz.1_5'UTR|PTPRO_uc001rda.1_5'UTR NM_030667 NP_109592 Q16827 PTPRO_HUMAN receptor-type protein tyrosine phosphatase O 788 Fibronectin type-III 8.|Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 9 Hepatocellular(102;0.244) CCTGCCACTGCCTACAATTGT 0.433 136 19 --- --- --- --- PASS PTPRO 5800 broad.mit.edu 37 12 15702087 15702087 + Silent SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr12:15702087C>A uc001rcv.1 + 14 2538 c.2364C>A c.(2362-2364)GCC>GCA p.A788A PTPRO_uc001rcw.1_Silent_p.A788A|PTPRO_uc001rcx.1_5'UTR|PTPRO_uc001rcy.1_5'UTR|PTPRO_uc001rcz.1_5'UTR|PTPRO_uc001rda.1_5'UTR NM_030667 NP_109592 Q16827 PTPRO_HUMAN receptor-type protein tyrosine phosphatase O 788 Fibronectin type-III 8.|Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 9 Hepatocellular(102;0.244) CTGCCACTGCCTACAATTGTA 0.433 139 19 --- --- --- --- PASS CCDC91 55297 broad.mit.edu 37 12 28544295 28544295 + Missense_Mutation SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr12:28544295C>T uc001riq.2 + 7 729 c.713C>T c.(712-714)TCT>TTT p.S238F CCDC91_uc001rio.2_Missense_Mutation_p.S208F|CCDC91_uc009zjk.2_RNA|CCDC91_uc001rip.1_Missense_Mutation_p.S238F|CCDC91_uc001rir.2_Missense_Mutation_p.S76F|CCDC91_uc009zjl.2_Intron NM_018318 NP_060788 Q7Z6B0 CCD91_HUMAN GGA binding partner 238 Homodimerization. protein transport Golgi apparatus|membrane central_nervous_system(1) 1 Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184) CAGTACATTTCTGCAATTGAG 0.368 10 42 --- --- --- --- PASS C12orf40 283461 broad.mit.edu 37 12 40041652 40041652 + Missense_Mutation SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr12:40041652G>A uc001rmc.2 + 6 610 c.443G>A c.(442-444)TGC>TAC p.C148Y C12orf40_uc009zjv.1_RNA NM_001031748 NP_001026918 Q86WS4 CL040_HUMAN hypothetical protein LOC283461 148 ovary(6) 6 ATAGAGAACTGCAGTTTCACT 0.348 36 4 --- --- --- --- PASS TMEM106C 79022 broad.mit.edu 37 12 48358089 48358089 + Missense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr12:48358089G>T uc001rqp.2 + 2 185 c.70G>T c.(70-72)GGT>TGT p.G24C TMEM106C_uc001rqo.2_Missense_Mutation_p.G24C|TMEM106C_uc001rqr.2_Missense_Mutation_p.G24C|TMEM106C_uc001rqq.2_Missense_Mutation_p.G24C NM_024056 NP_076961 Q9BVX2 T106C_HUMAN transmembrane protein 106C isoform a 24 endoplasmic reticulum membrane|integral to membrane 0 Acute lymphoblastic leukemia(13;0.11) GBM - Glioblastoma multiforme(48;0.241) TGACAGGGACGGTTTGCTGGC 0.567 13 21 --- --- --- --- PASS XRCC6BP1 91419 broad.mit.edu 37 12 58347452 58347452 + Missense_Mutation SNP G C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr12:58347452G>C uc001sqp.2 + 5 557 c.517G>C c.(517-519)GGA>CGA p.G173R NM_033276 NP_150592 Q9Y6H3 ATP23_HUMAN XRCC6 binding protein 1 173 double-strand break repair via nonhomologous end joining DNA-dependent protein kinase-DNA ligase 4 complex DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity ovary(1) 1 GTTACATTTTGGATTAAAACA 0.348 41 8 --- --- --- --- PASS CPM 1368 broad.mit.edu 37 12 69250352 69250352 + Silent SNP T C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr12:69250352T>C uc001sup.2 - 9 1258 c.1197A>G c.(1195-1197)CAA>CAG p.Q399Q CPM_uc001sur.2_Silent_p.Q399Q|CPM_uc001suq.2_Silent_p.Q399Q NM_198320 NP_938079 P14384 CBPM_HUMAN carboxypeptidase M precursor 399 anatomical structure morphogenesis|proteolysis anchored to membrane|cytoplasm|nucleus|plasma membrane metallocarboxypeptidase activity|zinc ion binding 0 all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06) all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) TAGAATCCAATTGCCCTTGGA 0.413 63 4 --- --- --- --- PASS LGR5 8549 broad.mit.edu 37 12 71955575 71955575 + Missense_Mutation SNP A G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr12:71955575A>G uc001swl.2 + 8 848 c.800A>G c.(799-801)AAC>AGC p.N267S LGR5_uc001swm.2_Intron|LGR5_uc001swn.1_RNA NM_003667 NP_003658 O75473 LGR5_HUMAN leucine-rich repeat-containing G protein-coupled 267 LRR 9.|Extracellular (Potential). integral to plasma membrane protein-hormone receptor activity lung(4)|skin(3)|ovary(1)|pancreas(1) 9 TTTCATAGCAACAATATCAGG 0.368 6 18 --- --- --- --- PASS KL 9365 broad.mit.edu 37 13 33628177 33628177 + Missense_Mutation SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr13:33628177G>A uc001uus.2 + 2 1101 c.1093G>A c.(1093-1095)GAC>AAC p.D365N KL_uc001uur.1_Missense_Mutation_p.D58N NM_004795 NP_004786 Q9UEF7 KLOT_HUMAN klotho precursor 365 Glycosyl hydrolase-1 1.|Extracellular (Potential). aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding large_intestine(1)|ovary(1)|skin(1) 3 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) AGGAACTGCTGACTTTTTTGC 0.413 200 26 --- --- --- --- PASS PCDH20 64881 broad.mit.edu 37 13 61985741 61985741 + Nonsense_Mutation SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr13:61985741C>A uc001vid.3 - 2 2855 c.2491G>T c.(2491-2493)GAG>TAG p.E831* PCDH20_uc010thj.1_Nonsense_Mutation_p.E831* NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN protocadherin 20 804 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|breast(1)|central_nervous_system(1) 6 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) TGGAGAGGCTCGGGATAACCA 0.428 90 9 --- --- --- --- PASS OR4M1 441670 broad.mit.edu 37 14 20249350 20249350 + Missense_Mutation SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr14:20249350C>A uc010tku.1 + 1 869 c.869C>A c.(868-870)ACA>AAA p.T290K NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 290 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATTATTTACACATTGAGAAAC 0.343 35 80 --- --- --- --- PASS OR4K5 79317 broad.mit.edu 37 14 20389688 20389688 + Missense_Mutation SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr14:20389688C>A uc010tkw.1 + 1 923 c.923C>A c.(922-924)CCA>CAA p.P308Q NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, 308 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TACCTGAGGCCAAGGAGAATT 0.373 54 140 --- --- --- --- PASS RTN1 6252 broad.mit.edu 37 14 60069840 60069840 + Missense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr14:60069840G>T uc001xen.1 - 8 2440 c.2231C>A c.(2230-2232)GCA>GAA p.A744E RTN1_uc001xem.1_Missense_Mutation_p.A324E|RTN1_uc001xek.1_Missense_Mutation_p.A176E|RTN1_uc001xel.1_RNA|RTN1_uc010apl.1_Missense_Mutation_p.A161E NM_021136 NP_066959 Q16799 RTN1_HUMAN reticulon 1 isoform A 744 Reticulon. neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0968) GTCAATCTGTGCCTACATAAA 0.363 26 28 --- --- --- --- PASS RHOJ 57381 broad.mit.edu 37 14 63757659 63757659 + Missense_Mutation SNP G C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr14:63757659G>C uc001xgb.1 + 5 1005 c.562G>C c.(562-564)GAT>CAT p.D188H NM_020663 NP_065714 Q9H4E5 RHOJ_HUMAN ras homolog gene family, member J precursor 188 actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity 0 OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119) AGCGGTTTTTGATGAAGCAAT 0.443 88 75 --- --- --- --- PASS CLMN 79789 broad.mit.edu 37 14 95690189 95690189 + Missense_Mutation SNP T G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr14:95690189T>G uc001yef.2 - 3 264 c.148A>C c.(148-150)AAC>CAC p.N50H NM_024734 NP_079010 Q96JQ2 CLMN_HUMAN calmin 50 Actin-binding.|CH 1. integral to membrane actin binding 0 Epithelial(152;0.193) AGAGGTGGGTTGCACTTTGAA 0.338 16 36 --- --- --- --- PASS TJP1 7082 broad.mit.edu 37 15 30029502 30029502 + Missense_Mutation SNP T A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr15:30029502T>A uc001zcr.2 - 11 1848 c.1373A>T c.(1372-1374)AAG>ATG p.K458M TJP1_uc010azl.2_Missense_Mutation_p.K446M|TJP1_uc001zcq.2_Missense_Mutation_p.K462M|TJP1_uc001zcs.2_Missense_Mutation_p.K458M NM_003257 NP_003248 Q07157 ZO1_HUMAN tight junction protein 1 isoform a 458 PDZ 3. cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction ovary(4)|central_nervous_system(1)|pancreas(1) 6 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) TAAGCCTTCCTTGGCTGCAGG 0.418 59 70 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 33961618 33961618 + Nonsense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr15:33961618G>T uc001zhi.2 + 37 5753 c.5683G>T c.(5683-5685)GAG>TAG p.E1895* RYR3_uc010bar.2_Nonsense_Mutation_p.E1895* NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1895 4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GATTCGGGAGGAGCTGTATGA 0.458 33 47 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 33961619 33961619 + Missense_Mutation SNP A G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr15:33961619A>G uc001zhi.2 + 37 5754 c.5684A>G c.(5683-5685)GAG>GGG p.E1895G RYR3_uc010bar.2_Missense_Mutation_p.E1895G NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1895 4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) ATTCGGGAGGAGCTGTATGAT 0.453 35 46 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 33999173 33999173 + Silent SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr15:33999173C>T uc001zhi.2 + 43 6607 c.6537C>T c.(6535-6537)GCC>GCT p.A2179A RYR3_uc010bar.2_Silent_p.A2179A NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2179 4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TGCTTCTGGCCAAAGGATACC 0.478 19 17 --- --- --- --- PASS TLN2 83660 broad.mit.edu 37 15 63029096 63029096 + Silent SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr15:63029096G>T uc002alb.3 + 26 3378 c.3378G>T c.(3376-3378)ACG>ACT p.T1126T NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 1126 Ala-rich. cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 CTAGAGAGACGGCCCAAGCTC 0.552 14 26 --- --- --- --- PASS HERC1 8925 broad.mit.edu 37 15 64048842 64048842 + Nonsense_Mutation SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr15:64048842G>A uc002amp.2 - 5 1475 c.1327C>T c.(1327-1329)CAG>TAG p.Q443* HERC1_uc010uil.1_Intron|HERC1_uc010bgt.1_Nonsense_Mutation_p.Q443* NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 443 WD 1.|RCC1 2. protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 AAAGTTGACTGATTATTGGAG 0.433 12 19 --- --- --- --- PASS ZNF609 23060 broad.mit.edu 37 15 64791889 64791889 + Nonsense_Mutation SNP A T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr15:64791889A>T uc002ann.2 + 1 271 c.271A>T c.(271-273)AAA>TAA p.K91* ZNF609_uc010bgy.2_Nonsense_Mutation_p.K91* NM_015042 NP_055857 O15014 ZN609_HUMAN zinc finger protein 609 91 nucleus zinc ion binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 ATCAAAATCCAAAAGGAGTAA 0.542 51 58 --- --- --- --- PASS PKM2 5315 broad.mit.edu 37 15 72492913 72492913 + Missense_Mutation SNP T C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr15:72492913T>C uc002atx.1 - 10 1632 c.1391A>G c.(1390-1392)CAC>CGC p.H464R GRAMD2_uc002atq.2_5'Flank|GRAMD2_uc010bis.2_5'Flank|PKM2_uc002atr.1_5'UTR|PKM2_uc002ats.1_Missense_Mutation_p.H131R|PKM2_uc002att.1_Missense_Mutation_p.H230R|PKM2_uc002atu.1_Missense_Mutation_p.H230R|PKM2_uc010bit.1_Missense_Mutation_p.H469R|PKM2_uc010uki.1_Missense_Mutation_p.H538R|PKM2_uc002atv.1_Missense_Mutation_p.H499R|PKM2_uc002atw.1_Missense_Mutation_p.H464R|PKM2_uc002aty.1_Missense_Mutation_p.H464R|PKM2_uc010ukj.1_Missense_Mutation_p.H449R|PKM2_uc010ukk.1_Missense_Mutation_p.H390R|PKM2_uc010biu.1_Missense_Mutation_p.H485R NM_182471 NP_872271 P14618 KPYM_HUMAN pyruvate kinase, muscle isoform M1 464 Interaction with POU5F1. glycolysis|programmed cell death cytosol|nucleus|plasma membrane ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity breast(1) 1 Pyruvic acid(DB00119) ACGGTACAGGTGGGCCTGACG 0.622 3 85 --- --- --- --- PASS FBXO22 26263 broad.mit.edu 37 15 76225414 76225414 + Missense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr15:76225414G>T uc002bbk.2 + 7 1288 c.1183G>T c.(1183-1185)GCA>TCA p.A395S FBXO22_uc002bbl.2_Missense_Mutation_p.A291S|FBXO22OS_uc002bbm.1_RNA NM_147188 NP_671717 Q8NEZ5 FBX22_HUMAN F-box only protein 22 isoform a 395 ubiquitin-dependent protein catabolic process ubiquitin-protein ligase activity 0 AACAATAATGGCACTCATACA 0.343 48 55 --- --- --- --- PASS FSD2 123722 broad.mit.edu 37 15 83455327 83455327 + Missense_Mutation SNP T C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr15:83455327T>C uc002bjd.2 - 3 838 c.671A>G c.(670-672)GAA>GGA p.E224G FSD2_uc010uol.1_Missense_Mutation_p.E224G|FSD2_uc010uom.1_Missense_Mutation_p.E224G NM_001007122 NP_001007123 A1L4K1 FSD2_HUMAN fibronectin type III and SPRY domain containing 224 Potential. central_nervous_system(1) 1 TATCTGCTTTTCCAATTTGTA 0.373 11 22 --- --- --- --- PASS ADAMTSL3 57188 broad.mit.edu 37 15 84592663 84592663 + Missense_Mutation SNP A T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr15:84592663A>T uc002bjz.3 + 17 2219 c.1995A>T c.(1993-1995)CAA>CAT p.Q665H ADAMTSL3_uc010bmt.1_Missense_Mutation_p.Q665H|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.Q665H NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 665 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) CAGGCCATCAAGAAGCCATAG 0.433 21 38 --- --- --- --- PASS ADAMTSL3 57188 broad.mit.edu 37 15 84592664 84592664 + Nonsense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr15:84592664G>T uc002bjz.3 + 17 2220 c.1996G>T c.(1996-1998)GAA>TAA p.E666* ADAMTSL3_uc010bmt.1_Nonsense_Mutation_p.E666*|ADAMTSL3_uc010bmu.1_Nonsense_Mutation_p.E666* NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 666 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) AGGCCATCAAGAAGCCATAGC 0.433 21 37 --- --- --- --- PASS MAN2A2 4122 broad.mit.edu 37 15 91452555 91452555 + Splice_Site SNP A T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr15:91452555A>T uc010bnz.2 + 9 1312 c.1197_splice c.e9-2 p.R399_splice MAN2A2_uc010boa.2_Splice_Site_p.R441_splice|MAN2A2_uc002bqc.2_Splice_Site_p.R399_splice|MAN2A2_uc010uql.1_Splice_Site_p.R103_splice|MAN2A2_uc010uqm.1_Splice_Site_p.G46_splice|MAN2A2_uc010uqn.1_5'Flank NM_006122 NP_006113 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding large_intestine(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) TTCCTGCCCCAGGGCAGCCCT 0.448 40 21 --- --- --- --- PASS NARFL 64428 broad.mit.edu 37 16 789703 789703 + Silent SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr16:789703C>T uc002cjr.2 - 2 114 c.102G>A c.(100-102)GCG>GCA p.A34A NARFL_uc002cjp.2_5'Flank|NARFL_uc002cjq.2_5'UTR|NARFL_uc002cjs.2_5'UTR|NARFL_uc010brc.1_Silent_p.A34A|NARFL_uc010uur.1_Silent_p.A34A NM_022493 NP_071938 Q9H6Q4 NARFL_HUMAN nuclear prelamin A recognition factor-like 34 iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia 4 iron, 4 sulfur cluster binding|metal ion binding 0 Hepatocellular(780;0.0218) CGCCACTTCCCGCCCTTTTTT 0.572 11 57 --- --- --- --- PASS SPSB3 90864 broad.mit.edu 37 16 1827785 1827785 + Silent SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr16:1827785G>A uc002cmr.2 - 5 717 c.684C>T c.(682-684)CAC>CAT p.H228H SPSB3_uc002cms.2_Silent_p.H100H|SPSB3_uc002cmt.2_Silent_p.H100H|SPSB3_uc002cmu.2_Silent_p.H228H|SPSB3_uc002cmv.2_Silent_p.H100H NM_080861 NP_543137 Q6PJ21 SPSB3_HUMAN splA/ryanodine receptor domain and SOCS box 228 B30.2/SPRY. intracellular signal transduction 0 TGAGTGTGCCGTGCCAGGTGT 0.627 28 23 --- --- --- --- PASS SRRM2 23524 broad.mit.edu 37 16 2816402 2816402 + Missense_Mutation SNP C G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr16:2816402C>G uc002crk.2 + 11 6422 c.5873C>G c.(5872-5874)TCC>TGC p.S1958C SRRM2_uc002crj.1_Missense_Mutation_p.S1862C|SRRM2_uc002crl.1_Missense_Mutation_p.S1958C|SRRM2_uc010bsu.1_Missense_Mutation_p.S1862C NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 1958 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 CGCAGAAGGTCCAGATCCAGG 0.567 17 35 --- --- --- --- PASS TNFRSF17 608 broad.mit.edu 37 16 12061466 12061466 + Missense_Mutation SNP A C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr16:12061466A>C uc002dbv.2 + 3 535 c.317A>C c.(316-318)AAG>ACG p.K106T TNFRSF17_uc010buy.2_3'UTR|TNFRSF17_uc010buz.2_Missense_Mutation_p.K57T NM_001192 NP_001183 Q02223 TNR17_HUMAN tumor necrosis factor receptor superfamily, 106 Cytoplasmic (Potential). cell proliferation|multicellular organismal development endomembrane system|integral to membrane|plasma membrane 0 GACCTGGAAAAGAGCAGGACT 0.468 T IL2 intestinal T-cell lymphoma 26 122 --- --- --- --- PASS GDE1 51573 broad.mit.edu 37 16 19522215 19522215 + Missense_Mutation SNP C G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr16:19522215C>G uc002dgh.2 - 3 653 c.489G>C c.(487-489)GAG>GAC p.E163D GDE1_uc002dgi.2_Missense_Mutation_p.E53D NM_016641 NP_057725 Q9NZC3 GDE1_HUMAN glycerophosphodiester phosphodiesterase 1 163 Lumenal (Potential).|GDPD. glycerol metabolic process|lipid metabolic process cytoplasm|integral to membrane glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding ovary(2)|central_nervous_system(1) 3 GGTTTAGGCACTCTGCAACAG 0.373 4 278 --- --- --- --- PASS GP2 2813 broad.mit.edu 37 16 20328621 20328621 + Missense_Mutation SNP T C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr16:20328621T>C uc002dgv.2 - 9 1422 c.1339A>G c.(1339-1341)ATG>GTG p.M447V GP2_uc002dgw.2_Missense_Mutation_p.M444V|GP2_uc002dgx.2_Missense_Mutation_p.M300V|GP2_uc002dgy.2_Missense_Mutation_p.M297V NM_001007240 NP_001007241 P55259 GP2_HUMAN zymogen granule membrane glycoprotein 2 isoform 447 ZP. anchored to membrane|extracellular region|plasma membrane ovary(3)|skin(1) 4 AACATGAACATCTGAACTGAG 0.488 42 56 --- --- --- --- PASS CACNG3 10368 broad.mit.edu 37 16 24373169 24373169 + Silent SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr16:24373169C>T uc002dmf.2 + 4 2133 c.933C>T c.(931-933)CGC>CGT p.R311R NM_006539 NP_006530 O60359 CCG3_HUMAN voltage-dependent calcium channel gamma-3 311 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity 0 GBM - Glioblastoma multiforme(48;0.0809) CCAACAGGCGCACCACGCCCG 0.562 23 27 --- --- --- --- PASS SH2B1 25970 broad.mit.edu 37 16 28877797 28877797 + Missense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr16:28877797G>T uc002dri.2 + 4 821 c.382G>T c.(382-384)GAC>TAC p.D128Y uc010vct.1_Intron|SH2B1_uc010vdc.1_Intron|SH2B1_uc002drj.2_Missense_Mutation_p.D128Y|SH2B1_uc002drk.2_Missense_Mutation_p.D128Y|SH2B1_uc002drl.2_Missense_Mutation_p.D128Y|SH2B1_uc010vdd.1_Intron|SH2B1_uc010vde.1_Missense_Mutation_p.D128Y|SH2B1_uc002drm.2_Missense_Mutation_p.D128Y NM_001145795 NP_001139267 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 isoform 1 128 Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).|Required for NGF signaling (By similarity). blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity ovary(2) 2 ATCATCTGAGGACCTGGCCGG 0.627 21 39 --- --- --- --- PASS ZNF646 9726 broad.mit.edu 37 16 31088353 31088353 + Silent SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr16:31088353G>A uc002eap.2 + 2 997 c.708G>A c.(706-708)GAG>GAA p.E236E ZNF668_uc002eao.2_5'Flank NM_014699 NP_055514 O15015 ZN646_HUMAN zinc finger protein 646 236 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(2) 2 CTGAGGAGGAGCGGCGGTACA 0.597 13 56 --- --- --- --- PASS MYST1 84148 broad.mit.edu 37 16 31141588 31141588 + Nonsense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr16:31141588G>T uc002eay.2 + 8 931 c.913G>T c.(913-915)GAG>TAG p.E305* MYST1_uc002eax.2_Nonsense_Mutation_p.E305*|MYST1_uc002eaz.2_Nonsense_Mutation_p.E147*|MYST1_uc002eba.2_Nonsense_Mutation_p.E89*|MYST1_uc002ebb.2_RNA NM_032188 NP_115564 Q9H7Z6 MYST1_HUMAN MYST histone acetyltransferase 1 isoform 1 305 histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex|MSL complex histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding ovary(1) 1 CCTCCTGCAGGAGAAGGAGTC 0.642 34 53 --- --- --- --- PASS PHKB 5257 broad.mit.edu 37 16 47694647 47694647 + Missense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr16:47694647G>T uc002eev.3 + 22 2165 c.2113G>T c.(2113-2115)GCT>TCT p.A705S PHKB_uc002eeu.3_Missense_Mutation_p.A698S NM_000293 NP_000284 Q93100 KPBB_HUMAN phosphorylase kinase, beta isoform a 705 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity ovary(1)|large_intestine(1)|breast(1) 3 all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203) CACCCCTAGTGCTCCTGAACT 0.423 57 74 --- --- --- --- PASS LPCAT2 54947 broad.mit.edu 37 16 55583305 55583305 + Missense_Mutation SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr16:55583305G>A uc002eie.3 + 10 1233 c.1052G>A c.(1051-1053)CGA>CAA p.R351Q LPCAT2_uc002eic.2_Missense_Mutation_p.R81Q NM_017839 NP_060309 Q7L5N7 PCAT2_HUMAN lysophosphatidylcholine acyltransferase 2 351 Lumenal (Potential). cellular membrane organization|platelet activating factor biosynthetic process endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding 0 AAAATTAGCCGAAAATTGAAG 0.358 37 66 --- --- --- --- PASS CNOT1 23019 broad.mit.edu 37 16 58612662 58612662 + Missense_Mutation SNP T C C rs112226008 byFrequency TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr16:58612662T>C uc002env.2 - 13 1818 c.1525A>G c.(1525-1527)ATT>GTT p.I509V CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.I509V|CNOT1_uc002enx.2_Missense_Mutation_p.I509V|CNOT1_uc002enz.1_Intron NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 509 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) CCAAGGAAAATTGGCATCAGA 0.428 49 65 --- --- --- --- PASS BCAR1 9564 broad.mit.edu 37 16 75269714 75269714 + Silent SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr16:75269714C>A uc002fdv.2 - 5 1206 c.1083G>T c.(1081-1083)GTG>GTT p.V361V BCAR1_uc002fdt.2_5'UTR|BCAR1_uc002fdu.2_Silent_p.V151V|BCAR1_uc010cgu.2_Silent_p.V350V|BCAR1_uc010vna.1_Silent_p.V359V|BCAR1_uc010vnb.1_Silent_p.V407V|BCAR1_uc002fdw.2_Silent_p.V361V|BCAR1_uc010vnc.1_Silent_p.V213V|BCAR1_uc010vnd.1_Silent_p.V379V|BCAR1_uc002fdx.2_Silent_p.V379V NM_014567 NP_055382 P56945 BCAR1_HUMAN breast cancer anti-estrogen resistance 1 361 Substrate for kinases (By similarity). actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway cytosol|focal adhesion|membrane fraction|ruffle protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity central_nervous_system(5)|breast(2)|prostate(1) 8 BRCA - Breast invasive adenocarcinoma(221;0.169) GCACGTCATACACGTCCTCGG 0.726 8 10 --- --- --- --- PASS PKD1L2 114780 broad.mit.edu 37 16 81204619 81204619 + Missense_Mutation SNP T C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr16:81204619T>C uc002fgh.1 - 17 2839 c.2839A>G c.(2839-2841)AGG>GGG p.R947G PKD1L2_uc002fgg.1_RNA|PKD1L2_uc002fgi.2_Missense_Mutation_p.R262G|PKD1L2_uc002fgj.2_Missense_Mutation_p.R947G NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 947 REJ.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 TCCTGCACCCTCTGCACGTCC 0.592 21 19 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578208 7578208 + Missense_Mutation SNP T C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr17:7578208T>C uc002gim.2 - 6 835 c.641A>G c.(640-642)CAT>CGT p.H214R TP53_uc002gig.1_Missense_Mutation_p.H214R|TP53_uc002gih.2_Missense_Mutation_p.H214R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H82R|TP53_uc010cng.1_Missense_Mutation_p.H82R|TP53_uc002gii.1_Missense_Mutation_p.H82R|TP53_uc010cnh.1_Missense_Mutation_p.H214R|TP53_uc010cni.1_Missense_Mutation_p.H214R|TP53_uc002gij.2_Missense_Mutation_p.H214R|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H121R|TP53_uc002gio.2_Missense_Mutation_p.H82R|TP53_uc010vug.1_Missense_Mutation_p.H175R NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 214 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). H -> Y (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H214R(45)|p.0?(7)|p.H214Y(4)|p.H214Q(4)|p.H214D(3)|p.H214fs*5(2)|p.H214fs*33(2)|p.D208fs*1(1)|p.K164_P219del(1)|p.H214H(1)|p.H214fs*7(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.T211_S215delTFRHS(1)|p.H214_S215insX(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(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) CACCACACTATGTCGAAAAGT 0.542 111 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) 20 8 --- --- --- --- PASS MYH13 8735 broad.mit.edu 37 17 10222449 10222449 + Silent SNP G C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr17:10222449G>C uc002gmk.1 - 27 3486 c.3396C>G c.(3394-3396)CTC>CTG p.L1132L NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 1132 Potential. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 TCTTGGCTCTGAGCGTGTGTT 0.557 56 11 --- --- --- --- PASS ACACA 31 broad.mit.edu 37 17 35614769 35614769 + Missense_Mutation SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr17:35614769C>T uc002hnm.2 - 14 1762 c.1571G>A c.(1570-1572)GGA>GAA p.G524E ACACA_uc002hnk.2_Missense_Mutation_p.G446E|ACACA_uc002hnl.2_Missense_Mutation_p.G466E|ACACA_uc002hnn.2_Missense_Mutation_p.G524E|ACACA_uc002hno.2_Missense_Mutation_p.G561E|ACACA_uc010cuz.2_Missense_Mutation_p.G524E NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 524 Biotin carboxylation. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) CTGAACTGTTCCTGAGCTGGG 0.383 40 27 --- --- --- --- PASS FBXL20 84961 broad.mit.edu 37 17 37439059 37439059 + Missense_Mutation SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr17:37439059C>T uc010wed.1 - 8 765 c.544G>A c.(544-546)GTA>ATA p.V182I FBXL20_uc002hrt.2_Missense_Mutation_p.V182I|FBXL20_uc010cvu.2_Missense_Mutation_p.V150I NM_032875 NP_116264 Q96IG2 FXL20_HUMAN F-box and leucine-rich repeat protein 20 182 LRR 5. cytoplasm ovary(1) 1 LUAD - Lung adenocarcinoma(14;0.146) TCCTTGGTTACTTGGTCACAC 0.443 5 161 --- --- --- --- PASS FAM117A 81558 broad.mit.edu 37 17 47810055 47810055 + Missense_Mutation SNP T C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr17:47810055T>C uc002ipk.2 - 2 293 c.224A>G c.(223-225)GAA>GGA p.E75G FAM117A_uc010wlz.1_5'UTR NM_030802 NP_110429 Q9C073 F117A_HUMAN family with sequence similarity 117, member A 75 ovary(1) 1 CACTGACTTTTCTGGGGCCAC 0.597 14 10 --- --- --- --- PASS FTSJ3 117246 broad.mit.edu 37 17 61902894 61902894 + Splice_Site SNP A G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr17:61902894A>G uc002jbz.2 - 5 478 c.400_splice c.e5+1 p.A134_splice FTSJ3_uc002jca.2_Splice_Site_p.A134_splice|PSMC5_uc002jcb.2_5'Flank|PSMC5_uc010ddy.2_5'Flank|PSMC5_uc010ddz.2_5'Flank|PSMC5_uc002jcc.2_5'Flank|PSMC5_uc002jcd.2_5'Flank NM_017647 NP_060117 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding ovary(1) 1 CACTCCCTGTACCTTGTGAGT 0.567 42 25 --- --- --- --- PASS ITGB4 3691 broad.mit.edu 37 17 73747062 73747062 + Missense_Mutation SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr17:73747062C>A uc002jpg.2 + 30 3850 c.3663C>A c.(3661-3663)AGC>AGA p.S1221R ITGB4_uc002jph.2_Missense_Mutation_p.S1221R|ITGB4_uc002jpi.3_Missense_Mutation_p.S1221R|ITGB4_uc002jpj.2_Missense_Mutation_p.S1221R NM_000213 NP_000204 P16144 ITB4_HUMAN integrin beta 4 isoform 1 precursor 1221 Fibronectin type-III 2.|Cytoplasmic (Potential). cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity lung(4) 4 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) TAGTGCCCAGCGAGCCAGGGC 0.632 65 57 --- --- --- --- PASS C18orf1 753 broad.mit.edu 37 18 13621229 13621229 + Missense_Mutation SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr18:13621229C>T uc002ksa.2 + 5 963 c.295C>T c.(295-297)CGC>TGC p.R99C C18orf1_uc002ksb.2_Missense_Mutation_p.R99C|C18orf1_uc002kse.2_Missense_Mutation_p.R62C|C18orf1_uc002ksf.2_Missense_Mutation_p.R62C|C18orf1_uc002ksg.1_Missense_Mutation_p.R22C|C18orf1_uc002ksh.1_Missense_Mutation_p.R41C|C18orf1_uc002ksi.1_Missense_Mutation_p.R41C NM_181481 NP_852146 O15165 CR001_HUMAN hypothetical protein LOC753 isoform alpha 1 99 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(2)|skin(1) 3 READ - Rectum adenocarcinoma(73;0.0642) CTTCATCAACCGCCCGAACCA 0.637 21 77 --- --- --- --- PASS CDH2 1000 broad.mit.edu 37 18 25572701 25572701 + Missense_Mutation SNP C G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr18:25572701C>G uc002kwg.2 - 9 1721 c.1262G>C c.(1261-1263)AGA>ACA p.R421T CDH2_uc010xbn.1_Missense_Mutation_p.R390T NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 421 Extracellular (Potential).|Cadherin 3. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 GCCACTGATTCTGTACACTGC 0.517 91 77 --- --- --- --- PASS GALNT1 2589 broad.mit.edu 37 18 33234650 33234650 + Silent SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr18:33234650G>A uc010dmu.2 + 2 77 c.24G>A c.(22-24)AAG>AAA p.K8K GALNT1_uc002kyz.3_5'UTR|GALNT1_uc002kza.2_Silent_p.K8K|GALNT1_uc002kzb.2_Silent_p.K8K NM_020474 NP_065207 Q10472 GALT1_HUMAN polypeptide N-acetylgalactosaminyltransferase 1 8 Cytoplasmic (Potential). protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2) 2 CATACTGCAAGGTGGTCCTAG 0.338 12 18 --- --- --- --- PASS WDR7 23335 broad.mit.edu 37 18 54339771 54339771 + Missense_Mutation SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr18:54339771C>T uc002lgk.1 + 2 236 c.25C>T c.(25-27)CCC>TCC p.P9S WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.P9S NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN rabconnectin-3 beta isoform 1 9 ovary(2)|skin(1) 3 Lung(128;0.0238)|Colorectal(16;0.0296) CCTTGTTCTACCCATTGTTCT 0.408 8 151 --- --- --- --- PASS PIGN 23556 broad.mit.edu 37 18 59807680 59807680 + Silent SNP A T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr18:59807680A>T uc002lii.3 - 12 1444 c.996T>A c.(994-996)ATT>ATA p.I332I PIGN_uc002lij.3_Silent_p.I332I NM_176787 NP_789744 O95427 PIGN_HUMAN phosphatidylinositol glycan anchor biosynthesis, 332 Lumenal (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphotransferase activity, for other substituted phosphate groups breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 5 Colorectal(73;0.187) AGGGAACTCCAATAAGGGAAG 0.303 4 25 --- --- --- --- PASS ZNF236 7776 broad.mit.edu 37 18 74672689 74672689 + Missense_Mutation SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr18:74672689C>T uc002lmi.2 + 30 5489 c.5291C>T c.(5290-5292)GCG>GTG p.A1764V ZNF236_uc002lmj.2_RNA NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 1764 C2H2-type 29. cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) CAGAAGAGTGCGCTGCAGGTG 0.517 8 226 --- --- --- --- PASS SAFB 6294 broad.mit.edu 37 19 5664451 5664451 + Splice_Site SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr19:5664451G>T uc002mcf.2 + 17 2387 c.2334_splice c.e17+1 p.Q778_splice SAFB_uc002mcg.2_Splice_Site_p.Q778_splice|SAFB_uc002mce.3_Splice_Site_p.Q777_splice|SAFB_uc010xir.1_Splice_Site_p.Q777_splice|SAFB_uc010xis.1_Splice_Site_p.Q709_splice|SAFB_uc010xit.1_Splice_Site_p.Q620_splice|SAFB_uc010xiu.1_Splice_Site_p.Q577_splice NM_002967 NP_002958 Q15424 SAFB1_HUMAN scaffold attachment factor B chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding ovary(1)|liver(1)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;0.000222) AGAAGGACAGGTAAGTCTGAA 0.458 54 3 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9058961 9058961 + Silent SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr19:9058961G>A uc002mkp.2 - 3 28689 c.28485C>T c.(28483-28485)ACC>ACT p.T9495T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 9497 Ser-rich.|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 TCTCATCTGAGGTGATATTCA 0.473 61 247 --- --- --- --- PASS KEAP1 9817 broad.mit.edu 37 19 10600339 10600339 + Missense_Mutation SNP T C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr19:10600339T>C uc002moq.1 - 4 1672 c.1516A>G c.(1516-1518)ATC>GTC p.I506V KEAP1_uc002mop.1_Missense_Mutation_p.I224V|KEAP1_uc002mor.1_Missense_Mutation_p.I506V NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 506 Kelch 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) CCGCTTCGGATGGTGTTCATT 0.597 37 5 --- --- --- --- PASS CACNA1A 773 broad.mit.edu 37 19 13397667 13397667 + Missense_Mutation SNP A T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr19:13397667A>T uc010dze.2 - 20 3442 c.3206T>A c.(3205-3207)ATG>AAG p.M1069K CACNA1A_uc010dzc.2_Missense_Mutation_p.M594K|CACNA1A_uc002mwy.3_Missense_Mutation_p.M1068K|CACNA1A_uc010xne.1_Missense_Mutation_p.M597K NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 1069 Cytoplasmic (Potential). cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GTTGTTCTTCATGTTGTCAAT 0.667 30 7 --- --- --- --- PASS OR7A10 390892 broad.mit.edu 37 19 14952418 14952418 + Missense_Mutation SNP A T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr19:14952418A>T uc002mzx.1 - 1 272 c.272T>A c.(271-273)GTC>GAC p.V91D NM_001005190 NP_001005190 O76100 OR7AA_HUMAN olfactory receptor, family 7, subfamily A, 91 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Ovarian(108;0.203) ATAGGTGATGACTTTGTTGTG 0.473 63 9 --- --- --- --- PASS BRD4 23476 broad.mit.edu 37 19 15354077 15354077 + Silent SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr19:15354077G>A uc002nar.2 - 14 3025 c.2803C>T c.(2803-2805)CTG>TTG p.L935L NM_058243 NP_490597 O60885 BRD4_HUMAN bromodomain-containing protein 4 isoform long 935 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) ACCTTCTGCAGCTGCTGCAGG 0.478 T NUT|C15orf55 lethal midline carcinoma of young people 9 3 --- --- --- --- PASS ANO8 57719 broad.mit.edu 37 19 17435645 17435645 + Missense_Mutation SNP C G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr19:17435645C>G uc002ngf.2 - 17 3371 c.3212G>C c.(3211-3213)GGG>GCG p.G1071A ANO8_uc010eap.2_RNA NM_020959 NP_066010 Q9HCE9 ANO8_HUMAN anoctamin 8 1071 Extracellular (Potential). chloride channel complex chloride channel activity ovary(3) 3 CCGGGCCTGCCCGCCCGCCCC 0.711 64 13 --- --- --- --- PASS GMIP 51291 broad.mit.edu 37 19 19752824 19752824 + Silent SNP T C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr19:19752824T>C uc002nnd.2 - 3 258 c.141A>G c.(139-141)TCA>TCG p.S47S GMIP_uc010xrb.1_Silent_p.S47S|GMIP_uc010xrc.1_Silent_p.S47S NM_016573 NP_057657 Q9P107 GMIP_HUMAN GEM interacting protein 47 negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity ovary(1) 1 CTGGGTCTTCTGAGAGTAGAG 0.587 18 3 --- --- --- --- PASS COX6B1 1340 broad.mit.edu 37 19 36145572 36145572 + Missense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr19:36145572G>T uc002oav.2 + 3 368 c.206G>T c.(205-207)TGG>TTG p.W69L NM_001863 NP_001854 P14854 CX6B1_HUMAN cytochrome c oxidase subunit VIb polypeptide 1 69 respiratory electron transport chain mitochondrial inner membrane|mitochondrial intermembrane space cytochrome-c oxidase activity 0 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCCACATCCTGGGTATGTGCC 0.607 82 53 --- --- --- --- PASS ZNF569 148266 broad.mit.edu 37 19 37903520 37903520 + Missense_Mutation SNP G C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr19:37903520G>C uc002ogi.2 - 6 2598 c.2040C>G c.(2038-2040)CAC>CAG p.H680Q ZNF569_uc002ogh.2_Missense_Mutation_p.H521Q|ZNF569_uc002ogj.2_Missense_Mutation_p.H704Q NM_152484 NP_689697 Q5MCW4 ZN569_HUMAN zinc finger protein 569 680 C2H2-type 18. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GAATTCTCTGGTGTCTAACAA 0.408 63 150 --- --- --- --- PASS ARHGEF1 9138 broad.mit.edu 37 19 42410651 42410651 + Missense_Mutation SNP A G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr19:42410651A>G uc002orx.2 + 27 2643 c.2534A>G c.(2533-2535)AAT>AGT p.N845S ARHGEF1_uc002ory.2_Missense_Mutation_p.N812S|ARHGEF1_uc002orz.2_Missense_Mutation_p.N683S|ARHGEF1_uc002osa.2_Missense_Mutation_p.N860S|ARHGEF1_uc002osb.2_Intron|ARHGEF1_uc002osc.2_Intron|ARHGEF1_uc002osd.2_Missense_Mutation_p.N504S|ARHGEF1_uc002ose.2_Missense_Mutation_p.N289S NM_004706 NP_004697 Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor 1 isoform 845 cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(3)|large_intestine(1) 4 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) GAGGAAGACAATGGGGCGGGG 0.672 31 45 --- --- --- --- PASS PSG8 440533 broad.mit.edu 37 19 43262165 43262165 + Missense_Mutation SNP A C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr19:43262165A>C uc002ouo.2 - 3 796 c.698T>G c.(697-699)CTG>CGG p.L233R PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_RNA|PSG8_uc002oui.2_Missense_Mutation_p.L72R|PSG8_uc002ouh.2_Missense_Mutation_p.L233R|PSG8_uc010ein.2_Missense_Mutation_p.L111R|PSG8_uc002ouj.3_Intron|PSG8_uc002ouk.3_Missense_Mutation_p.L72R|PSG8_uc002oul.3_Missense_Mutation_p.L233R|PSG8_uc002oum.3_Intron|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Intron NM_182707 NP_874366 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 isoform 233 Ig-like C2-type 1. extracellular region 0 Prostate(69;0.00899) GAGGAGATTCAGGGTGAATGG 0.532 207 264 --- --- --- --- PASS PSG4 5672 broad.mit.edu 37 19 43699232 43699232 + Silent SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr19:43699232C>T uc002ovy.2 - 4 1005 c.903G>A c.(901-903)ACG>ACA p.T301T PSG6_uc010xwk.1_Intron|PSG4_uc002owa.2_RNA|PSG4_uc002owb.2_Silent_p.T208T|PSG4_uc002ovz.2_Intron NM_002780 NP_002771 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 isoform 301 Ig-like C2-type 2. defense response|female pregnancy extracellular region ovary(1) 1 Prostate(69;0.00682) TTTCATTTCTCGTGACATTGG 0.478 188 254 --- --- --- --- PASS PPP1R13L 10848 broad.mit.edu 37 19 45899860 45899860 + Missense_Mutation SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr19:45899860C>A uc002pbn.2 - 4 732 c.655G>T c.(655-657)GGG>TGG p.G219W PPP1R13L_uc002pbo.2_Missense_Mutation_p.G219W|PPP1R13L_uc002pbp.2_Missense_Mutation_p.G219W NM_006663 NP_006654 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 219 Pro-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding skin(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) AGGGAGCTCCCGAAGGCGGAC 0.766 13 12 --- --- --- --- PASS HIF3A 64344 broad.mit.edu 37 19 46842791 46842791 + Missense_Mutation SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr19:46842791C>A uc002peh.2 + 15 1951 c.1922C>A c.(1921-1923)CCC>CAC p.P641H HIF3A_uc002pek.2_Missense_Mutation_p.P585H|HIF3A_uc010xxy.1_Missense_Mutation_p.P572H|HIF3A_uc002pel.2_Missense_Mutation_p.P639H NM_152795 NP_690008 Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 641 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) GGCCTGGGCCCCTCACTGCTC 0.502 84 74 --- --- --- --- PASS SPHK2 56848 broad.mit.edu 37 19 49132810 49132810 + Missense_Mutation SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr19:49132810G>A uc002pjr.2 + 7 2111 c.1745G>A c.(1744-1746)CGC>CAC p.R582H SPHK2_uc010xzt.1_Missense_Mutation_p.R523H|SPHK2_uc002pjs.2_Missense_Mutation_p.R582H|SPHK2_uc002pjt.2_Missense_Mutation_p.R376H|SPHK2_uc002pju.2_Intron|SPHK2_uc002pjv.2_Missense_Mutation_p.R546H|SPHK2_uc002pjw.2_Missense_Mutation_p.R644H NM_020126 NP_064511 Q9NRA0 SPHK2_HUMAN sphingosine kinase 2 582 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity lung(1) 1 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) GCGCTGCTGCGCCTTTTCTTG 0.692 3 19 --- --- --- --- PASS DPRX 503834 broad.mit.edu 37 19 54140202 54140202 + Missense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr19:54140202G>T uc002qcf.1 + 3 587 c.536G>T c.(535-537)GGC>GTC p.G179V NM_001012728 NP_001012746 A6NFQ7 DPRX_HUMAN divergent-paired related homeobox 179 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.013) TTCCATTCTGGCTCTCCTGCC 0.388 62 130 --- --- --- --- PASS KIR2DL3 3804 broad.mit.edu 37 19 55263688 55263688 + Missense_Mutation SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr19:55263688G>A uc002qgv.2 + 7 859 c.841G>A c.(841-843)GAG>AAG p.E281K KIR2DS4_uc010yfj.1_5'Flank|KIR2DL3_uc002qgx.2_Missense_Mutation_p.E281K|KIR2DL3_uc002qgy.2_Missense_Mutation_p.E183K|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron|KIR3DP1_uc010yfi.1_5'Flank NM_015868 NP_056952 P43628 KI2L3_HUMAN killer cell immunoglobulin-like receptor, two 281 Cytoplasmic (Potential). immune response|regulation of immune response integral to plasma membrane antigen binding|protein binding|receptor activity ovary(2) 2 GBM - Glioblastoma multiforme(193;0.0192) AATGGACCAAGAGCCTGCAGG 0.512 72 144 --- --- --- --- PASS FCAR 2204 broad.mit.edu 37 19 55401161 55401161 + Missense_Mutation SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr19:55401161C>T uc002qhr.1 + 5 993 c.796C>T c.(796-798)CCG>TCG p.P266S FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Missense_Mutation_p.P217S|FCAR_uc010esi.1_Missense_Mutation_p.P143S|FCAR_uc002qhu.1_Missense_Mutation_p.P170S|FCAR_uc002qhv.1_Missense_Mutation_p.P244S|FCAR_uc002qhw.1_Missense_Mutation_p.P254S|FCAR_uc002qhx.1_Missense_Mutation_p.P158S|FCAR_uc002qhy.1_Missense_Mutation_p.P232S|FCAR_uc002qhz.1_3'UTR|FCAR_uc002qia.1_Missense_Mutation_p.P157S NM_002000 NP_001991 P24071 FCAR_HUMAN Fc alpha receptor isoform a precursor 266 Cytoplasmic (Potential). immune response extracellular region|integral to plasma membrane IgA binding|receptor activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(193;0.0443) TGTGGCTGAACCGAGCTGGAG 0.557 147 152 --- --- --- --- PASS USP29 57663 broad.mit.edu 37 19 57641067 57641067 + Missense_Mutation SNP T C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr19:57641067T>C uc002qny.2 + 4 1380 c.1024T>C c.(1024-1026)TGT>CGT p.C342R NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 342 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GAAAGATTTCTGTAGTACAAA 0.383 99 87 --- --- --- --- PASS ZIK1 284307 broad.mit.edu 37 19 58099911 58099911 + Missense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr19:58099911G>T uc002qpg.2 + 3 174 c.77G>T c.(76-78)TGT>TTT p.C26F ZNF547_uc002qpm.3_Intron|ZIK1_uc002qph.2_5'UTR|ZIK1_uc002qpi.2_Missense_Mutation_p.C13F|ZIK1_uc002qpj.2_Intron NM_001010879 NP_001010879 Q3SY52 ZIK1_HUMAN zinc finger protein interacting with K protein 26 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TGACAGGGCTGTGTGACCTTT 0.522 74 112 --- --- --- --- PASS SIRPA 140885 broad.mit.edu 37 20 1902292 1902292 + Missense_Mutation SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr20:1902292G>A uc002wfq.2 + 4 1048 c.688G>A c.(688-690)GTG>ATG p.V230M SIRPA_uc010zps.1_Missense_Mutation_p.V210M|SIRPA_uc002wfr.2_Missense_Mutation_p.V230M|SIRPA_uc002wfs.2_Missense_Mutation_p.V230M|SIRPA_uc002wft.2_Missense_Mutation_p.V230M NM_001040022 NP_001035111 P78324 SHPS1_HUMAN signal-regulatory protein alpha precursor 230 Ig-like C1-type 1.|Extracellular (Potential). blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding ovary(1) 1 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) CATCTGCGAGGTGGCCCACGT 0.612 5 94 --- --- --- --- PASS SIRPA 140885 broad.mit.edu 37 20 1902301 1902301 + Missense_Mutation SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr20:1902301G>A uc002wfq.2 + 4 1057 c.697G>A c.(697-699)GTC>ATC p.V233I SIRPA_uc010zps.1_Missense_Mutation_p.V213I|SIRPA_uc002wfr.2_Missense_Mutation_p.V233I|SIRPA_uc002wfs.2_Missense_Mutation_p.V233I|SIRPA_uc002wft.2_Missense_Mutation_p.V233I NM_001040022 NP_001035111 P78324 SHPS1_HUMAN signal-regulatory protein alpha precursor 233 Ig-like C1-type 1.|Extracellular (Potential). blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding ovary(1) 1 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) GGTGGCCCACGTCACCTTGCA 0.617 5 92 --- --- --- --- PASS PCSK2 5126 broad.mit.edu 37 20 17338980 17338980 + Missense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr20:17338980G>T uc002wpm.2 + 3 611 c.291G>T c.(289-291)ATG>ATT p.M97I PCSK2_uc002wpl.2_Missense_Mutation_p.M78I|PCSK2_uc010zrm.1_Missense_Mutation_p.M62I NM_002594 NP_002585 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 97 enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1) 7 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AGGTAAAGATGGCTTTGCAGC 0.373 6 68 --- --- --- --- PASS DSTN 11034 broad.mit.edu 37 20 17587719 17587719 + Missense_Mutation SNP T G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr20:17587719T>G uc002wpr.2 + 4 681 c.426T>G c.(424-426)GAT>GAG p.D142E DSTN_uc002wpq.2_Missense_Mutation_p.D125E|DSTN_uc010gck.2_Missense_Mutation_p.D125E NM_006870 NP_006861 P60981 DEST_HUMAN destrin isoform a 142 ADF-H. actin filament severing|actin polymerization or depolymerization actin binding large_intestine(1)|skin(1) 2 GACCAGAAGATCTCAATCGGG 0.378 5 164 --- --- --- --- PASS CST1 1469 broad.mit.edu 37 20 23731348 23731348 + Silent SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr20:23731348G>T uc002wtp.2 - 1 227 c.156C>A c.(154-156)ATC>ATA p.I52I NM_001898 NP_001889 P01037 CYTN_HUMAN cystatin SN precursor 52 extracellular region cysteine-type endopeptidase inhibitor activity ovary(1) 1 Lung NSC(19;0.0676)|all_lung(19;0.148) TATACTCGCTGATGGCGAAGT 0.572 90 59 --- --- --- --- PASS ASXL1 171023 broad.mit.edu 37 20 31017235 31017235 + Splice_Site SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr20:31017235G>A uc002wxs.2 + 6 991 c.565_splice c.e6+1 p.G189_splice ASXL1_uc010geb.2_Splice_Site_p.G131_splice NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 isoform 1 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1) 248 TCTGCATCAGGTATGTGTAAA 0.512 F|N|Mis MDS|CMML 15 64 --- --- --- --- PASS KIAA0406 9675 broad.mit.edu 37 20 36641556 36641556 + Silent SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr20:36641556G>A uc002xhl.2 - 3 872 c.663C>T c.(661-663)ATC>ATT p.I221I KIAA0406_uc002xhm.2_Silent_p.I221I NM_014657 NP_055472 O43156 TTI1_HUMAN hypothetical protein LOC9675 221 binding 0 Myeloproliferative disorder(115;0.00874) AGTCTCCTGTGATAAGCCTGG 0.423 22 148 --- --- --- --- PASS BPI 671 broad.mit.edu 37 20 36953175 36953175 + Splice_Site SNP G C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr20:36953175G>C uc002xib.2 + 9 1008 c.946_splice c.e9-1 p.I316_splice NM_001725 NP_001716 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 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) TCTTGCTACAGATTCCAAAGG 0.443 73 33 --- --- --- --- PASS PTPRT 11122 broad.mit.edu 37 20 41385134 41385134 + Missense_Mutation SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr20:41385134C>T uc002xkg.2 - 6 1011 c.827G>A c.(826-828)GGT>GAT p.G276D PTPRT_uc010ggj.2_Missense_Mutation_p.G276D NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 276 Extracellular (Potential).|Ig-like C2-type. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GTTGGACACACCAGACCCACC 0.582 3 27 --- --- --- --- PASS DNTTIP1 116092 broad.mit.edu 37 20 44424038 44424038 + Missense_Mutation SNP G A A rs139853820 byFrequency TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr20:44424038G>A uc002xpk.2 + 4 396 c.328G>A c.(328-330)GCA>ACA p.A110T NM_052951 NP_443183 Q9H147 TDIF1_HUMAN terminal deoxynucleotidyltransferase interacting 110 nucleus ovary(1)|central_nervous_system(1) 2 Myeloproliferative disorder(115;0.0122) GGAGGTGGACGCAGAGCAGCT 0.562 13 7 --- --- --- --- PASS PCIF1 63935 broad.mit.edu 37 20 44569577 44569577 + Missense_Mutation SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr20:44569577G>A uc002xqs.2 + 6 831 c.517G>A c.(517-519)GAG>AAG p.E173K NM_022104 NP_071387 Q9H4Z3 PCIF1_HUMAN phosphorylated CTD interacting factor 1 173 nucleus skin(1) 1 ACGACCCACTGAGTGAGTCCC 0.597 25 63 --- --- --- --- PASS PREX1 57580 broad.mit.edu 37 20 47307609 47307609 + Silent SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr20:47307609G>A uc002xtw.1 - 9 1085 c.1062C>T c.(1060-1062)ACC>ACT p.T354T NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 354 PH. actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) CGTTGGTGACGGTATAGCCGT 0.567 24 80 --- --- --- --- PASS LSM14B 149986 broad.mit.edu 37 20 60701381 60701381 + Missense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr20:60701381G>T uc010gjy.1 + 3 519 c.313G>T c.(313-315)GCC>TCC p.A105S LSM14B_uc002ybt.2_Missense_Mutation_p.A105S|LSM14B_uc010gjx.1_Missense_Mutation_p.A131S|LSM14B_uc002ybv.2_Missense_Mutation_p.A105S|LSM14B_uc010gjz.1_5'UTR|LSM14B_uc010zzz.1_5'UTR NM_144703 NP_653304 Q9BX40 LS14B_HUMAN LSM14 homolog B 105 multicellular organismal development|regulation of translation ribonucleoprotein complex 0 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.28e-07) TTCTGCCTCCGCCTCGCCCTT 0.662 30 14 --- --- --- --- PASS NCAM2 4685 broad.mit.edu 37 21 22707972 22707972 + Missense_Mutation SNP C G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr21:22707972C>G uc002yld.1 + 7 1134 c.885C>G c.(883-885)TTC>TTG p.F295L NCAM2_uc011acb.1_Missense_Mutation_p.F153L|NCAM2_uc011acc.1_Missense_Mutation_p.F320L NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 295 Ig-like C2-type 3.|Extracellular (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) AGCAAGCTTTCCTCCAAGTCT 0.373 11 30 --- --- --- --- PASS NCAM2 4685 broad.mit.edu 37 21 22910202 22910202 + Missense_Mutation SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr21:22910202C>A uc002yld.1 + 18 2687 c.2438C>A c.(2437-2439)GCT>GAT p.A813D NCAM2_uc011acb.1_Missense_Mutation_p.A671D NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 813 Cytoplasmic (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) GGGAAAGAAGCTCTAAATCCA 0.328 69 39 --- --- --- --- PASS PFKL 5211 broad.mit.edu 37 21 45738464 45738464 + Nonsense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr21:45738464G>T uc002zel.2 + 10 1107 c.1048G>T c.(1048-1050)GAG>TAG p.E350* PFKL_uc002zek.2_Nonsense_Mutation_p.E397*|PFKL_uc002zem.2_5'Flank|PFKL_uc002zen.2_5'Flank NM_002626 NP_002617 P17858 K6PL_HUMAN liver phosphofructokinase 350 fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding 0 Colorectal(79;0.0811) GCCCCTCATGGAGTGCGTGCA 0.701 38 11 --- --- --- --- PASS KRTAP10-1 386677 broad.mit.edu 37 21 45959214 45959214 + Missense_Mutation SNP G C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr21:45959214G>C uc002zfh.1 - 1 865 c.820C>G c.(820-822)CGC>GGC p.R274G C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198691 NP_941964 P60331 KR101_HUMAN keratin associated protein 10-1 274 keratin filament skin(1) 1 CACGCGGGGCGGCAGAGGAGG 0.731 30 10 --- --- --- --- PASS MMP11 4320 broad.mit.edu 37 22 24121524 24121524 + Missense_Mutation SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr22:24121524G>A uc002zxx.2 + 2 281 c.259G>A c.(259-261)GAT>AAT p.D87N MMP11_uc002zxy.2_RNA|MMP11_uc002zxz.2_5'Flank NM_005940 NP_005931 P24347 MMP11_HUMAN matrix metalloproteinase 11 preproprotein 87 collagen catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(2)|large_intestine(1) 3 Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318) CGACCCATCTGATGGGCTGAG 0.697 14 33 --- --- --- --- PASS MMP11 4320 broad.mit.edu 37 22 24121532 24121532 + Silent SNP G C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr22:24121532G>C uc002zxx.2 + 2 289 c.267G>C c.(265-267)CTG>CTC p.L89L MMP11_uc002zxy.2_RNA|MMP11_uc002zxz.2_5'Flank NM_005940 NP_005931 P24347 MMP11_HUMAN matrix metalloproteinase 11 preproprotein 89 collagen catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(2)|large_intestine(1) 3 Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318) CTGATGGGCTGAGTGCCCGCA 0.682 14 31 --- --- --- --- PASS ADRBK2 157 broad.mit.edu 37 22 26114280 26114280 + Nonsense_Mutation SNP C T T rs148927409 TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr22:26114280C>T uc003abx.3 + 19 1870 c.1723C>T c.(1723-1725)CAG>TAG p.Q575* ADRBK2_uc003aby.3_RNA NM_005160 NP_005151 P35626 ARBK2_HUMAN beta-adrenergic receptor kinase 2 575 PH. ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity lung(3)|ovary(2)|stomach(1)|central_nervous_system(1) 7 Adenosine triphosphate(DB00171) ATTTCTGACTCAGTGGCAGCG 0.463 4 154 --- --- --- --- PASS SEC14L4 284904 broad.mit.edu 37 22 30891954 30891954 + Silent SNP T A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr22:30891954T>A uc003aid.2 - 3 235 c.135A>T c.(133-135)CGA>CGT p.R45R SEC14L4_uc011akz.1_Silent_p.R45R|SEC14L4_uc003aie.2_Missense_Mutation_p.E14V|SEC14L4_uc003aif.2_5'UTR NM_174977 NP_777637 Q9UDX3 S14L4_HUMAN SEC14p-like protein TAP3 isoform a 45 integral to membrane|intracellular lipid binding|transporter activity skin(1) 1 Vitamin E(DB00163) GGTCAAAGTTTCGAGCTGCAA 0.507 20 31 --- --- --- --- PASS PLA2G3 50487 broad.mit.edu 37 22 31535854 31535854 + Missense_Mutation SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr22:31535854C>T uc003aka.2 - 1 616 c.487G>A c.(487-489)GAT>AAT p.D163N NM_015715 NP_056530 Q9NZ20 PA2G3_HUMAN phospholipase A2, group III precursor 163 Phospholipase A2-like. cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity 0 CCAGCAGAATCTCCAACTCCA 0.353 9 99 --- --- --- --- PASS SFI1 9814 broad.mit.edu 37 22 32010810 32010810 + Missense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr22:32010810G>T uc003ale.2 + 28 3425 c.3032G>T c.(3031-3033)CGC>CTC p.R1011L SFI1_uc003alf.2_Missense_Mutation_p.R980L|SFI1_uc003alg.2_Missense_Mutation_p.R929L|SFI1_uc011alp.1_Missense_Mutation_p.R917L|SFI1_uc011alq.1_Missense_Mutation_p.R956L|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_RNA|SFI1_uc003ali.2_Missense_Mutation_p.R103L|SFI1_uc003alj.2_Missense_Mutation_p.A83S NM_001007467 NP_001007468 A8K8P3 SFI1_HUMAN spindle assembly associated Sfi1 homolog isoform 1011 G2/M transition of mitotic cell cycle centriole|cytosol central_nervous_system(1) 1 CAGCCGCGACGCCCACACTTC 0.662 69 48 --- --- --- --- PASS SLC5A4 6527 broad.mit.edu 37 22 32644773 32644773 + Missense_Mutation SNP A G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr22:32644773A>G uc003ami.2 - 4 331 c.329T>C c.(328-330)CTG>CCG p.L110P NM_014227 NP_055042 Q9NY91 SC5A4_HUMAN solute carrier family 5 (low affinity glucose 110 Helical; (Potential). carbohydrate transport|sodium ion transport integral to membrane symporter activity 0 CCCAAGAATCAGCAACATTAC 0.348 72 107 --- --- --- --- PASS C1QTNF6 114904 broad.mit.edu 37 22 37578345 37578345 + Nonsense_Mutation SNP G T T rs144359957 TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr22:37578345G>T uc003aqw.1 - 2 1168 c.663C>A c.(661-663)TAC>TAA p.Y221* C1QTNF6_uc003aqx.1_Nonsense_Mutation_p.Y240*|C1QTNF6_uc003aqy.1_Nonsense_Mutation_p.Y240*|C1QTNF6_uc003aqz.1_RNA NM_182486 NP_872292 Q9BXI9 C1QT6_HUMAN C1q and tumor necrosis factor related protein 6 221 C1q. collagen 0 CGCGGTCCCCGTAGGCCAGGT 0.592 18 8 --- --- --- --- PASS C1QTNF6 114904 broad.mit.edu 37 22 37578618 37578618 + Silent SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr22:37578618G>A uc003aqw.1 - 2 895 c.390C>T c.(388-390)GGC>GGT p.G130G C1QTNF6_uc003aqx.1_Silent_p.G149G|C1QTNF6_uc003aqy.1_Silent_p.G149G|C1QTNF6_uc003aqz.1_RNA NM_182486 NP_872292 Q9BXI9 C1QT6_HUMAN C1q and tumor necrosis factor related protein 6 130 C1q. collagen 0 CCGTCTTGCGGCCCACTGAGA 0.652 35 33 --- --- --- --- PASS GCAT 23464 broad.mit.edu 37 22 38212584 38212584 + Silent SNP C G G rs149775052 TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr22:38212584C>G uc003atz.2 + 9 1139 c.1119C>G c.(1117-1119)GTC>GTG p.V373V GCAT_uc003aua.1_Silent_p.V399V NM_014291 NP_055106 O75600 KBL_HUMAN glycine C-acetyltransferase precursor 373 biosynthetic process|cellular amino acid metabolic process glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups 0 Melanoma(58;0.045) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) GCATCTTTGTCATCGGGTTCA 0.602 45 66 --- --- --- --- PASS ADSL 158 broad.mit.edu 37 22 40754992 40754992 + Missense_Mutation SNP G T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr22:40754992G>T uc003ayp.3 + 5 666 c.607G>T c.(607-609)GGC>TGC p.G203C ADSL_uc003ays.3_Missense_Mutation_p.G203C|ADSL_uc003ayq.3_Missense_Mutation_p.G203C|ADSL_uc003ayr.3_5'UTR|ADSL_uc003ayt.3_Missense_Mutation_p.G188C|ADSL_uc010gyb.1_RNA NM_000026 NP_000017 P30566 PUR8_HUMAN adenylosuccinate lyase isoform a 203 AMP biosynthetic process|protein tetramerization|purine base metabolic process cytosol (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity ovary(1) 1 GGGTACCACTGGCACTCAGGC 0.507 23 22 --- --- --- --- PASS EFCAB6 64800 broad.mit.edu 37 22 43936136 43936136 + Missense_Mutation SNP C A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr22:43936136C>A uc003bdy.1 - 28 3965 c.3750G>T c.(3748-3750)ATG>ATT p.M1250I EFCAB6_uc003bdz.1_Missense_Mutation_p.M1098I|EFCAB6_uc010gzi.1_Missense_Mutation_p.M1098I|EFCAB6_uc010gzj.1_3'UTR NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 1250 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) CACCAGTGGCCATTGGTGTGG 0.592 18 57 --- --- --- --- PASS IL1RAPL1 11141 broad.mit.edu 37 X 29935678 29935678 + Silent SNP T C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chrX:29935678T>C uc004dby.2 + 7 1384 c.876T>C c.(874-876)GAT>GAC p.D292D NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 292 Extracellular (Potential).|Ig-like C2-type 3. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity ovary(3)|lung(1)|pancreas(1) 5 TTATTGAAGATCTGGATGAAA 0.353 4 40 --- --- --- --- PASS CCDC22 28952 broad.mit.edu 37 X 49099760 49099760 + Silent SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chrX:49099760G>A uc004dnd.1 + 6 702 c.546G>A c.(544-546)GAG>GAA p.E182E CCDC22_uc011mna.1_Silent_p.E182E|CCDC22_uc004dnc.1_RNA NM_014008 NP_054727 O60826 CCD22_HUMAN coiled-coil domain containing 22 182 central_nervous_system(1) 1 AGCCACGGGAGTTCCAGGCGA 0.657 10 1 --- --- --- --- PASS HUWE1 10075 broad.mit.edu 37 X 53578044 53578044 + Missense_Mutation SNP T C C TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chrX:53578044T>C uc004dsp.2 - 65 9605 c.9203A>G c.(9202-9204)GAC>GGC p.D3068G HUWE1_uc004dsn.2_Missense_Mutation_p.D1876G NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 3068 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 ACGGCGCAGGTCTGAGGGCAG 0.562 6 27 --- --- --- --- PASS ODZ1 10178 broad.mit.edu 37 X 123514841 123514841 + Missense_Mutation SNP A G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chrX:123514841A>G uc004euj.2 - 31 7787 c.7723T>C c.(7723-7725)TTC>CTC p.F2575L ODZ1_uc011muj.1_Missense_Mutation_p.F2581L|ODZ1_uc010nqy.2_Missense_Mutation_p.F2582L NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 2575 Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 AGCTTAATGAAGTAGTGAGTG 0.498 69 7 --- --- --- --- PASS SMARCA1 6594 broad.mit.edu 37 X 128599711 128599711 + Splice_Site SNP T G G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chrX:128599711T>G uc004eun.3 - 23 2931 c.2818_splice c.e23-1 p.I940_splice SMARCA1_uc004eup.3_Splice_Site_p.I928_splice|SMARCA1_uc011muk.1_Splice_Site_p.I940_splice|SMARCA1_uc011mul.1_Splice_Site_p.I928_splice NM_003069 NP_003060 P28370 SMCA1_HUMAN SWI/SNF-related matrix-associated ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding ovary(3)|skin(1) 4 TCTTGCAATCTGTGTATTTAA 0.323 39 7 --- --- --- --- PASS CNGA2 1260 broad.mit.edu 37 X 150911633 150911633 + Nonsense_Mutation SNP C T T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chrX:150911633C>T uc004fey.1 + 7 882 c.658C>T c.(658-660)CAG>TAG p.Q220* NM_005140 NP_005131 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 220 Cytoplasmic (Potential). response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) CCACACCCTGCAGTTCAAGCT 0.522 45 5 --- --- --- --- PASS GABRE 2564 broad.mit.edu 37 X 151124015 151124015 + Missense_Mutation SNP G A A TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chrX:151124015G>A uc004ffi.2 - 8 1016 c.962C>T c.(961-963)ACC>ATC p.T321I GABRE_uc011myd.1_RNA NM_004961 NP_004952 P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, 321 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) GCCCAACGTGGTCATGGTCAG 0.498 42 8 --- --- --- --- PASS KCNN3 3782 broad.mit.edu 37 1 154842199 154842200 + In_Frame_Ins INS - GCTGCT GCTGCT rs3831942 TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr1:154842199_154842200insGCTGCT uc001ffp.2 - 1 555_556 c.241_242insAGCAGC c.(241-243)CCA>CAGCAGCCA p.80_81insQQ KCNN3_uc009wox.1_In_Frame_Ins_p.80_81insQQ NM_002249 NP_002240 Q9UGI6 KCNN3_HUMAN small conductance calcium-activated potassium 80_86 integral to membrane calmodulin binding lung(1) 1 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GGGATGCGGTGgctgctgctgc 0.347 10 8 --- --- --- --- ALMS1 7840 broad.mit.edu 37 2 73613263 73613263 + Frame_Shift_Del DEL T - - TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr2:73613263delT uc002sje.1 + 2 381 c.270delT c.(268-270)CCTfs p.P90fs ALMS1_uc002sjf.1_Frame_Shift_Del_p.P89fs NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 89 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 GGATTTTGCCTCCGCTGTCGC 0.697 4 2 --- --- --- --- INHA 3623 broad.mit.edu 37 2 220439825 220439826 + Frame_Shift_Ins INS - G G rs12720061 byFrequency TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr2:220439825_220439826insG uc002vmk.1 + 2 822_823 c.678_679insG c.(676-681)GGAGGGfs p.G226fs NM_002191 NP_002182 P05111 INHA_HUMAN inhibin alpha subunit precursor 226_227 cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development inhibin A complex|inhibin-betaglycan-ActRII complex cytokine activity|growth factor activity|hormone activity|signal transducer activity ovary(1) 1 Renal(207;0.0183) Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) CACCCAGTGGAGGGGAGAGAGC 0.683 10 48 --- --- --- --- SLC9A10 285335 broad.mit.edu 37 3 111887848 111887849 + Frame_Shift_Del DEL CT - - TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr3:111887848_111887849delCT uc003dyu.2 - 25 3334_3335 c.3112_3113delAG c.(3112-3114)AGTfs p.S1038fs SLC9A10_uc011bhu.1_Frame_Shift_Del_p.S301fs|SLC9A10_uc010hqc.2_Frame_Shift_Del_p.S990fs NM_183061 NP_898884 Q4G0N8 S9A10_HUMAN sperm-specific sodium proton exchanger 1038 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity ovary(3)|breast(2) 5 AGTTTTGGTACTCATTGGTATA 0.302 58 48 --- --- --- --- GRM1 2911 broad.mit.edu 37 6 146720553 146720553 + Frame_Shift_Del DEL C - - TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr6:146720553delC uc010khw.1 + 8 2848 c.2378delC c.(2377-2379)ACCfs p.T793fs GRM1_uc010khv.1_Frame_Shift_Del_p.T793fs|GRM1_uc003qll.2_Frame_Shift_Del_p.T793fs|GRM1_uc011edz.1_Frame_Shift_Del_p.T793fs|GRM1_uc011eea.1_Frame_Shift_Del_p.T793fs NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 793 Helical; Name=6; (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) ACCATGTACACCACCTGTATC 0.478 59 35 --- --- --- --- FNDC1 84624 broad.mit.edu 37 6 159651036 159651036 + Splice_Site DEL G - - TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr6:159651036delG uc010kjv.2 + 10 1569 c.1369_splice c.e10+1 p.T457_splice FNDC1_uc010kjw.1_Intron NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 extracellular region large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) ATGCCAACAAGTAAGCATTAT 0.488 89 61 --- --- --- --- SPAM1 6677 broad.mit.edu 37 7 123599605 123599605 + Frame_Shift_Del DEL T - - TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr7:123599605delT uc003vld.2 + 6 1514 c.1112delT c.(1111-1113)CTAfs p.L371fs SPAM1_uc003vle.2_Frame_Shift_Del_p.L371fs|SPAM1_uc011koa.1_Frame_Shift_Del_p.L27fs|SPAM1_uc003vlf.3_Frame_Shift_Del_p.L371fs|SPAM1_uc010lku.2_Frame_Shift_Del_p.L371fs NM_153189 NP_694859 P38567 HYALP_HUMAN sperm adhesion molecule 1 isoform 2 371 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity ovary(3)|kidney(1) 4 Hyaluronidase(DB00070) AACGTCACACTAGCAGCCAAA 0.378 41 48 --- --- --- --- RP1L1 94137 broad.mit.edu 37 8 10480382 10480382 + Frame_Shift_Del DEL G - - TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr8:10480382delG uc003wtc.2 - 2 559 c.330delC c.(328-330)CCCfs p.P110fs NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 110 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) TGGGGGTCTTGGGGGGCTTCT 0.652 9 21 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81058846 81058847 + Frame_Shift_Del DEL GG - - TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr10:81058846_81058847delGG uc001kaf.2 + 16 2278_2279 c.1706_1707delGG c.(1705-1707)CGGfs p.R569fs ZMIZ1_uc001kag.2_Frame_Shift_Del_p.R445fs NM_020338 NP_065071 Q9ULJ6 ZMIZ1_HUMAN retinoic acid induced 17 569 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding ovary(2)|breast(1)|skin(1) 4 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) TTCCCTGTGCGGGATGGCGTGG 0.649 14 23 --- --- --- --- RB1 5925 broad.mit.edu 37 13 48947589 48947593 + Frame_Shift_Del DEL AAGTG - - TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr13:48947589_48947593delAAGTG uc001vcb.2 + 12 1342_1346 c.1176_1180delAAGTG c.(1174-1182)GCAAGTGATfs p.A392fs RB1_uc010act.1_Frame_Shift_Del_p.A93fs NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 392_394 Domain A.|Pocket; binds T and E1A. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(7) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TAAATTCAGCAAGTGATCAACCTTC 0.283 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 28 51 --- --- --- --- RYR3 6263 broad.mit.edu 37 15 34146970 34146970 + Frame_Shift_Del DEL T - - TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr15:34146970delT uc001zhi.2 + 98 13934 c.13864delT c.(13864-13866)TTTfs p.F4622fs RYR3_uc010bar.2_Frame_Shift_Del_p.F4617fs NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 4622 Helical; Name=M7; (Potential). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TTCCCAGTCCTTTCTCTACCT 0.423 183 132 --- --- --- --- MGA 23269 broad.mit.edu 37 15 42034848 42034848 + Frame_Shift_Del DEL G - - TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr15:42034848delG uc010ucy.1 + 15 4871 c.4690delG c.(4690-4692)GGGfs p.G1564fs MGA_uc010ucz.1_Intron|MGA_uc010uda.1_Frame_Shift_Del_p.G180fs NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 1 1564 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) AACCCTGGCAGGGACACAGAA 0.522 43 34 --- --- --- --- POLDIP2 26073 broad.mit.edu 37 17 26684394 26684395 + Splice_Site INS - G G rs113730440 TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chr17:26684394_26684395insG uc002haz.2 - 2 210 c.78_splice c.e2+1 p.W26_splice POLDIP2_uc010wag.1_RNA|TMEM199_uc002hba.2_5'Flank|SARM1_uc010wah.1_5'Flank NM_015584 NP_056399 Q9Y2S7 PDIP2_HUMAN DNA polymerase delta interacting protein 2 mitochondrial nucleoid|nucleus 0 all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) AGAGCGGCTTTGCCACCGGGCC 0.762 6 3 --- --- --- --- NHS 4810 broad.mit.edu 37 X 17710497 17710497 + Frame_Shift_Del DEL C - - TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chrX:17710497delC uc004cxx.2 + 3 1099 c.761delC c.(760-762)GCCfs p.A254fs NHS_uc011mix.1_Frame_Shift_Del_p.A254fs|NHS_uc004cxy.2_Frame_Shift_Del_p.A77fs|NHS_uc004cxz.2_Frame_Shift_Del_p.A77fs|NHS_uc004cya.2_5'UTR NM_198270 NP_938011 Q6T4R5 NHS_HUMAN Nance-Horan syndrome protein isoform 1 254 nucleus skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 Hepatocellular(33;0.183) AGAGCAGCTGCCCCCCTTTCC 0.507 16 49 --- --- --- --- ZMYM3 9203 broad.mit.edu 37 X 70472485 70472485 + Frame_Shift_Del DEL C - - TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chrX:70472485delC uc004dzh.1 - 2 708 c.621delG c.(619-621)CAGfs p.Q207fs BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Frame_Shift_Del_p.Q207fs|ZMYM3_uc004dzj.1_Frame_Shift_Del_p.Q207fs|ZMYM3_uc011mpu.1_5'Flank|ZMYM3_uc004dzk.3_Frame_Shift_Del_p.Q207fs|ZMYM3_uc004dzl.3_Frame_Shift_Del_p.Q207fs|ZMYM3_uc004dzm.3_Frame_Shift_Del_p.Q207fs NM_201599 NP_963893 Q14202 ZMYM3_HUMAN zinc finger protein 261 207 multicellular organismal development nucleus DNA binding|zinc ion binding ovary(1) 1 Renal(35;0.156) CAGGTTTGGTCTGAGAACTGT 0.592 3 15 --- --- --- --- GLRA4 441509 broad.mit.edu 37 X 102968474 102968474 + Frame_Shift_Del DEL G - - TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3874253f-7168-4cd6-b1d6-f426fa207313 cddef425-a065-4f10-b5fc-ceea4c287a0f g.chrX:102968474delG uc011mse.1 - 8 1478 c.1057delC c.(1057-1059)CGAfs p.R353fs TMEM31_uc004elh.2_Intron NM_001024452 NP_001019623 Q5JXX5 GLRA4_HUMAN glycine receptor, alpha 4 precursor 353 Extracellular (Potential). cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity 0 TGCCTTCTTCGAAGTCGTATG 0.517 6 52 --- --- --- ---