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 ZCCHC17 51538 broad.mit.edu 37 1 31810124 31810125 + Splice_Site INS - A A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr1:31810124_31810125insA uc001bsp.1 + 4 361 c.225_splice c.e4+2 p.E75_splice ZCCHC17_uc001bsq.1_Splice_Site_p.E67_splice|ZCCHC17_uc010ogf.1_Splice_Site_p.E51_splice|ZCCHC17_uc009vtu.1_Splice_Site_p.E51_splice|ZCCHC17_uc001bsr.1_Splice_Site_p.E75_splice|ZCCHC17_uc009vtv.1_Splice_Site_p.E51_splice NM_016505 NP_057589 Q9NP64 NO40_HUMAN zinc finger, CCHC domain containing 17 nucleolus RNA binding|zinc ion binding ovary(1) 1 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222) STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168) GGCCGAGAGGTAAAGTTCTGTG 0.426 RPL5 6125 broad.mit.edu 37 1 93300358 93300358 + Missense_Mutation SNP G A A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr1:93300358G>A uc001doz.2 + 4 290 c.212G>A c.(211-213)GGG>GAG p.G71E FAM69A_uc001dpc.2_Intron|RPL5_uc001dpa.2_RNA|RPL5_uc001dpb.2_Missense_Mutation_p.G21E|RPL5_uc001dpd.2_5'Flank|SNORD21_uc001dpe.2_5'Flank NM_000969 NP_000960 P46777 RL5_HUMAN ribosomal protein L5 71 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus 5S rRNA binding|protein binding|structural constituent of ribosome 0 all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203) GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927) CGTATAGAGGGGGATATGATA 0.413 BCAR3 8412 broad.mit.edu 37 1 94032953 94032953 + Missense_Mutation SNP C T T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr1:94032953C>T uc001dpz.2 - 11 2457 c.2182G>A c.(2182-2184)GAC>AAC p.D728N BCAR3_uc001dqa.2_Missense_Mutation_p.D728N|BCAR3_uc001dqb.2_Missense_Mutation_p.D728N|BCAR3_uc001dpx.3_Missense_Mutation_p.D404N|BCAR3_uc001dpy.2_Missense_Mutation_p.D637N NM_003567 NP_003558 O75815 BCAR3_HUMAN breast cancer antiestrogen resistance 3 728 Ras-GEF. response to drug|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|protein binding ovary(1)|lung(1)|central_nervous_system(1) 3 all_lung(203;0.00145)|Lung NSC(277;0.00662) all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166) TCCCACATGTCGGTTCCTTCA 0.512 S1PR1 1901 broad.mit.edu 37 1 101705315 101705317 + In_Frame_Del DEL ATT - - TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr1:101705315_101705317delATT uc001dud.2 + 2 1289_1291 c.775_777delATT c.(775-777)ATTdel p.I260del S1PR1_uc009weg.2_In_Frame_Del_p.I260del NM_001400 NP_001391 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 260 Helical; Name=6; (By similarity). cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity ovary(2)|lung(1) 3 CAAGACCGTAATTATCGTCCTGA 0.591 CD58 965 broad.mit.edu 37 1 117078713 117078713 + Missense_Mutation SNP G A A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr1:117078713G>A uc001egm.2 - 3 623 c.502C>T c.(502-504)CGT>TGT p.R168C CD58_uc001egn.2_RNA|CD58_uc010owy.1_Missense_Mutation_p.R168C|CD58_uc001ego.1_Intron|CD58_uc001egp.3_Missense_Mutation_p.R168C NM_001779 NP_001770 P19256 LFA3_HUMAN CD58 molecule isoform 1 168 Extracellular (Potential).|Ig-like C2-type. blood coagulation|cell-cell adhesion|leukocyte migration anchored to membrane|integral to plasma membrane protein binding 0 Lung SC(450;0.225) all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577) Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121) GTTGAGTTACGTTTACATTGC 0.343 SPAG17 200162 broad.mit.edu 37 1 118623774 118623774 + Missense_Mutation SNP A T T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr1:118623774A>T uc001ehk.2 - 15 2227 c.2159T>A c.(2158-2160)CTG>CAG p.L720Q NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 720 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CTGCTCTAACAGCTGTCTATT 0.363 SPAG17 200162 broad.mit.edu 37 1 118628591 118628591 + Silent SNP A C C TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr1:118628591A>C uc001ehk.2 - 13 1784 c.1716T>G c.(1714-1716)ACT>ACG p.T572T NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 572 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CTAGACGTTTAGTGTTGTTCC 0.388 SPTA1 6708 broad.mit.edu 37 1 158655079 158655079 + Missense_Mutation SNP C T T rs121918641 TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr1:158655079C>T uc001fst.1 - 2 282 c.83G>A c.(82-84)CGT>CAT p.R28H NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 28 Spectrin 1. R -> C (in EL2).|R -> L (in EL2). actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CACTTCCTGACGCCTCTCCTG 0.348 LEFTY2 7044 broad.mit.edu 37 1 226127121 226127121 + Missense_Mutation SNP G A A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr1:226127121G>A uc001hpt.1 - 3 757 c.677C>T c.(676-678)GCG>GTG p.A226V LEFTY2_uc010pvk.1_Missense_Mutation_p.A192V|LEFTY2_uc009xek.1_Intron NM_003240 NP_003231 O00292 LFTY2_HUMAN endometrial bleeding associated factor 226 cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway extracellular space|platelet alpha granule lumen cytokine activity|growth factor activity|transforming growth factor beta receptor binding 0 Breast(184;0.197) CCCGGCTGGCGCCCCCTGCGA 0.701 RTKN2 219790 broad.mit.edu 37 10 63957757 63957757 + Silent SNP G T T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr10:63957757G>T uc001jlw.2 - 12 1837 c.1740C>A c.(1738-1740)ACC>ACA p.T580T RTKN2_uc009xpf.1_Intron|RTKN2_uc001jlv.2_Silent_p.T234T NM_145307 NP_660350 Q8IZC4 RTKN2_HUMAN rhotekin 2 580 signal transduction intracellular 0 Prostate(12;0.0297)|all_hematologic(501;0.215) CTTCAAAATTGGTTTTAGTGT 0.448 CHUK 1147 broad.mit.edu 37 10 101981868 101981868 + Splice_Site SNP C T T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr10:101981868C>T uc001kqp.2 - 4 440 c.385_splice c.e4+1 p.G129_splice NM_001278 NP_001269 O15111 IKKA_HUMAN conserved helix-loop-helix ubiquitous kinase I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus ATP binding|identical protein binding|IkappaB kinase activity ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1) 7 Colorectal(252;0.117) Epithelial(162;2.05e-10)|all cancers(201;1.91e-08) CTGATACGTACCTATATCACT 0.313 LGR4 55366 broad.mit.edu 37 11 27390538 27390538 + Missense_Mutation SNP C T T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr11:27390538C>T uc001mrj.3 - 18 2217 c.1732G>A c.(1732-1734)GGC>AGC p.G578S LGR4_uc001mrk.3_Missense_Mutation_p.G554S NM_018490 NP_060960 Q9BXB1 LGR4_HUMAN leucine-rich repeat-containing G protein-coupled 578 Helical; Name=2; (Potential). integral to membrane|plasma membrane protein-hormone receptor activity ovary(1) 1 GAAATCAAGCCTATAAACAAT 0.378 HARBI1 283254 broad.mit.edu 37 11 46637480 46637480 + Missense_Mutation SNP C T T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr11:46637480C>T uc001ncy.2 - 2 556 c.308G>A c.(307-309)TGT>TAT p.C103Y KIAA0652_uc009yld.2_5'Flank|KIAA0652_uc001nda.2_5'Flank|KIAA0652_uc001ndb.2_5'Flank|KIAA0652_uc001ncz.2_5'Flank|KIAA0652_uc001ndc.2_5'Flank|KIAA0652_uc010rgv.1_5'Flank NM_173811 NP_776172 Q96MB7 HARB1_HUMAN harbinger transposase derived 1 103 cytoplasm|nucleus metal ion binding|nuclease activity 0 ATTGGCAACACAACGACTCAT 0.488 VWF 7450 broad.mit.edu 37 12 6091103 6091103 + Missense_Mutation SNP C T T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr12:6091103C>T uc001qnn.1 - 42 7386 c.7136G>A c.(7135-7137)CGT>CAT p.R2379H VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 2379 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) GGTGGGCAAACGGTGCGGGGG 0.612 KRT3 3850 broad.mit.edu 37 12 53185580 53185580 + Silent SNP C T T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr12:53185580C>T uc001say.2 - 6 1275 c.1209G>A c.(1207-1209)ACG>ACA p.T403T NM_057088 NP_476429 P12035 K2C3_HUMAN keratin 3 403 Rod.|Coil 2. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity 0 GCCTGCCAGCCGTGGTCTGCA 0.527 OR6C4 341418 broad.mit.edu 37 12 55945614 55945614 + Missense_Mutation SNP G A A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr12:55945614G>A uc010spp.1 + 1 604 c.604G>A c.(604-606)GTT>ATT p.V202I NM_001005494 NP_001005494 Q8NGE1 OR6C4_HUMAN olfactory receptor, family 6, subfamily C, 202 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CCTCTTGGCCGTTGTGACTCT 0.483 GLIPR1 11010 broad.mit.edu 37 12 75874782 75874782 + Missense_Mutation SNP A G G TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr12:75874782A>G uc001sxs.2 + 1 270 c.122A>G c.(121-123)CAT>CGT p.H41R GLIPR1_uc009zsb.1_Missense_Mutation_p.H41R NM_006851 NP_006842 P48060 GLIP1_HUMAN GLI pathogenesis-related 1 precursor 41 cellular lipid metabolic process extracellular region|integral to membrane large_intestine(1)|ovary(1)|skin(1) 3 GTTCGAATCCATAACAAGTTC 0.378 MGAT4C 25834 broad.mit.edu 37 12 86373908 86373908 + Missense_Mutation SNP C T T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr12:86373908C>T uc001tai.3 - 8 1846 c.596G>A c.(595-597)CGT>CAT p.R199H MGAT4C_uc001tal.3_Missense_Mutation_p.R199H|MGAT4C_uc001taj.3_Missense_Mutation_p.R199H|MGAT4C_uc001tak.3_Missense_Mutation_p.R199H|MGAT4C_uc010sum.1_Missense_Mutation_p.R223H|MGAT4C_uc001tah.3_Missense_Mutation_p.R199H NM_013244 NP_037376 Q9UBM8 MGT4C_HUMAN alpha-1,3-mannosyl-glycoprotein 199 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(3) 3 TTGCTTGGAACGAAATTTGAC 0.338 UHRF1BP1L 23074 broad.mit.edu 37 12 100453163 100453163 + Missense_Mutation SNP T C C TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr12:100453163T>C uc001tgq.2 - 14 2121 c.1892A>G c.(1891-1893)AAA>AGA p.K631R UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.K281R NM_015054 NP_055869 A0JNW5 UH1BL_HUMAN UHRF1 (ICBP90) binding protein 1-like isoform a 631 ovary(2) 2 ATCACAATCTTTAAAGTCTTG 0.353 SBNO1 55206 broad.mit.edu 37 12 123794339 123794339 + Silent SNP C T T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr12:123794339C>T uc010tap.1 - 25 3360 c.3360G>A c.(3358-3360)GCG>GCA p.A1120A SBNO1_uc009zxv.2_RNA|SBNO1_uc010tao.1_Silent_p.A1119A|SBNO1_uc010taq.1_Silent_p.A71A|SBNO1_uc001ues.1_Silent_p.A71A NM_018183 NP_060653 A3KN83 SBNO1_HUMAN sno, strawberry notch homolog 1 1120 ATP binding|DNA binding|hydrolase activity breast(5)|skin(2)|ovary(1)|kidney(1) 9 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) ACTGAAATAACGCATTCTGCT 0.328 SFRS8 6433 broad.mit.edu 37 12 132281734 132281736 + In_Frame_Del DEL AGA - - TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr12:132281734_132281736delAGA uc001uja.1 + 16 2686_2688 c.2546_2548delAGA c.(2545-2550)GAGAAG>GAG p.K853del SFRS8_uc010tbn.1_In_Frame_Del_p.K905del NM_004592 NP_004583 Q12872 SFSWA_HUMAN splicing factor, arginine/serine-rich 8 853 Poly-Lys.|Arg/Ser-rich (RS domain). mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05) AGTCCCCACGAGAAGAAGAAGAA 0.493 CDADC1 81602 broad.mit.edu 37 13 49865831 49865831 + Silent SNP A C C TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr13:49865831A>C uc001vcu.2 + 10 1559 c.1483A>C c.(1483-1485)AGA>CGA p.R495R CDADC1_uc010tgk.1_Silent_p.R297R|CDADC1_uc001vcv.2_RNA NM_030911 NP_112173 Q9BWV3 CDAC1_HUMAN cytidine and dCMP deaminase domain containing 1 495 hydrolase activity|zinc ion binding upper_aerodigestive_tract(1) 1 Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216) TGGTGTGTTGAGACCTGTCCC 0.488 C13orf39 196541 broad.mit.edu 37 13 103343256 103343256 + Silent SNP G A A rs140891650 TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr13:103343256G>A uc001vpj.2 - 2 195 c.189C>T c.(187-189)TAC>TAT p.Y63Y C13orf39_uc001vpk.2_Silent_p.Y63Y NM_001010977 NP_001010977 Q5VZV1 MT21C_HUMAN hypothetical protein LOC196541 63 methyltransferase activity 0 TGTAGCTGGCGTAATCTGTAG 0.443 OR4N2 390429 broad.mit.edu 37 14 20295720 20295720 + Missense_Mutation SNP T C C TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr14:20295720T>C uc010tkv.1 + 1 113 c.113T>C c.(112-114)ATC>ACC p.I38T NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, 38 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TACTTCATCATCCTCCCTGGA 0.438 RNASE11 122651 broad.mit.edu 37 14 21052495 21052495 + Missense_Mutation SNP G T T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr14:21052495G>T uc010ahv.2 - 2 324 c.139C>A c.(139-141)CAG>AAG p.Q47K RNASE11_uc010ahx.2_Missense_Mutation_p.Q47K|RNASE11_uc010ahw.2_Missense_Mutation_p.Q47K|RNASE11_uc001vxs.2_Missense_Mutation_p.Q47K NM_145250 NP_660293 Q8TAA1 RNS11_HUMAN ribonuclease, RNase A family, 11 (non-active) 47 extracellular region nucleic acid binding|pancreatic ribonuclease activity ovary(3) 3 all_cancers(95;0.00238) all_lung(585;0.235) Epithelial(56;1.85e-06)|all cancers(55;1.46e-05) GBM - Glioblastoma multiforme(265;0.0139) TCAATGGTCTGTTTTTCTTGG 0.378 ARID4A 5926 broad.mit.edu 37 14 58831848 58831848 + Missense_Mutation SNP A G G TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr14:58831848A>G uc001xdp.2 + 20 3295 c.3041A>G c.(3040-3042)GAT>GGT p.D1014G ARID4A_uc001xdo.2_Missense_Mutation_p.D1014G|ARID4A_uc001xdq.2_Missense_Mutation_p.D1014G|ARID4A_uc010apg.1_Missense_Mutation_p.D692G NM_002892 NP_002883 P29374 ARI4A_HUMAN retinoblastoma-binding protein 1 isoform I 1014 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|lung(1) 6 CTTAGTCAAGATGAGTCTCGA 0.413 AHNAK2 113146 broad.mit.edu 37 14 105408457 105408457 + Missense_Mutation SNP C T T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr14:105408457C>T uc010axc.1 - 7 13451 c.13331G>A c.(13330-13332)CGG>CAG p.R4444Q AHNAK2_uc001ypx.2_Missense_Mutation_p.R4344Q NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4444 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCCCTCCAGCCGCGTACTGTC 0.587 PLCB2 5330 broad.mit.edu 37 15 40583002 40583002 + Missense_Mutation SNP G C C TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr15:40583002G>C uc001zld.2 - 28 3374 c.3073C>G c.(3073-3075)CAG>GAG p.Q1025E PLCB2_uc001zlc.2_Missense_Mutation_p.Q9E|PLCB2_uc010bbo.2_Missense_Mutation_p.Q1021E|PLCB2_uc010ucm.1_Missense_Mutation_p.Q1010E NM_004573 NP_004564 Q00722 PLCB2_HUMAN phospholipase C, beta 2 1025 Potential. activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(3)|breast(3)|kidney(1)|pancreas(1) 8 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) TCTGCCGCCTGTTTCTCTCTG 0.587 VPS39 23339 broad.mit.edu 37 15 42457929 42457929 + Missense_Mutation SNP G A A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr15:42457929G>A uc001zpd.2 - 18 1950 c.1799C>T c.(1798-1800)GCT>GTT p.A600V VPS39_uc001zpc.2_Missense_Mutation_p.A589V|VPS39_uc001zpb.2_5'UTR NM_015289 NP_056104 Q96JC1 VPS39_HUMAN vacuolar protein sorting 39 600 protein transport HOPS complex|late endosome membrane|lysosomal membrane small GTPase regulator activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;3.05e-06) ATAAGGAATAGCCAGACCCTT 0.443 SLC27A2 11001 broad.mit.edu 37 15 50518260 50518260 + Missense_Mutation SNP G A A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr15:50518260G>A uc001zxw.2 + 6 1475 c.1243G>A c.(1243-1245)GTC>ATC p.V415I SLC27A2_uc010bes.2_Missense_Mutation_p.V362I|SLC27A2_uc001zxx.2_Missense_Mutation_p.V180I NM_003645 NP_003636 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid 415 Cytoplasmic (Potential). bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity ovary(1)|skin(1) 2 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) TGGATATTGCGTCAGAGTTCC 0.353 ACAN 176 broad.mit.edu 37 15 89395102 89395102 + Missense_Mutation SNP G A A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr15:89395102G>A uc010upo.1 + 11 2478 c.2104G>A c.(2104-2106)GTG>ATG p.V702M ACAN_uc010upp.1_Missense_Mutation_p.V702M|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 702 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GGAGTGGATCGTGACCCAAGT 0.567 GRIN2A 2903 broad.mit.edu 37 16 9858195 9858195 + Missense_Mutation SNP G A A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr16:9858195G>A uc002czo.3 - 13 3754 c.3206C>T c.(3205-3207)ACG>ATG p.T1069M GRIN2A_uc010uym.1_Missense_Mutation_p.T1069M|GRIN2A_uc010uyn.1_Missense_Mutation_p.T912M|GRIN2A_uc002czr.3_Missense_Mutation_p.T1069M NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 1069 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CCTGTGGCACGTGGCCCGATT 0.502 IL4R 3566 broad.mit.edu 37 16 27373745 27373745 + Missense_Mutation SNP G A A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr16:27373745G>A uc002don.2 + 11 1314 c.1072G>A c.(1072-1074)GTG>ATG p.V358M IL4R_uc002dop.3_Missense_Mutation_p.V343M|IL4R_uc010bxy.2_Missense_Mutation_p.V358M|IL4R_uc002doo.2_Missense_Mutation_p.V198M NM_000418 NP_000409 P24394 IL4RA_HUMAN interleukin 4 receptor alpha chain isoform a 358 Cytoplasmic (Potential). immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity ovary(1)|skin(1) 2 GAGCATCAGCGTGGTGCGATG 0.562 CDH8 1006 broad.mit.edu 37 16 61687974 61687974 + Silent SNP C T T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr16:61687974C>T uc002eog.1 - 12 2190 c.1938G>A c.(1936-1938)CGG>CGA p.R646R NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 646 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R646Q(1) ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) CATTTTTATGCCGCCGTAGAG 0.388 C16orf7 9605 broad.mit.edu 37 16 89782935 89782935 + Silent SNP G C C TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr16:89782935G>C uc002fom.1 - 4 491 c.366C>G c.(364-366)CTC>CTG p.L122L C16orf7_uc002fol.1_Silent_p.L52L|uc002fon.1_RNA|uc002foo.1_5'Flank NM_004913 NP_004904 Q9Y2B5 CP007_HUMAN chromosome 16 open reading frame 7 122 ATP synthesis coupled proton transport GTPase activator activity|transporter activity 0 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0273) GAAAAGGAGAGAGCTTTCCTC 0.567 PRPF8 10594 broad.mit.edu 37 17 1577046 1577046 + Missense_Mutation SNP A G G TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr17:1577046A>G uc002fte.2 - 22 3554 c.3440T>C c.(3439-3441)GTT>GCT p.V1147A NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN U5 snRNP-specific protein 1147 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding lung(4)|ovary(2) 6 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) TCACAAGTTAACATCATGTTT 0.537 SPDYE4 388333 broad.mit.edu 37 17 8658859 8658859 + Missense_Mutation SNP C T T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr17:8658859C>T uc010cnz.1 - 4 641 c.464G>A c.(463-465)CGC>CAC p.R155H NM_001128076 NP_001121548 A6NLX3 SPDE4_HUMAN speedy homolog E4 155 0 GAAATGAATGCGTTGGTATTG 0.493 MYH4 4622 broad.mit.edu 37 17 10369590 10369590 + Silent SNP G A A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr17:10369590G>A uc002gmn.2 - 4 459 c.348C>T c.(346-348)TAC>TAT p.Y116Y uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 116 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 GGGTGCTCACGTAGATCATCC 0.433 ACCN1 40 broad.mit.edu 37 17 31351022 31351022 + Silent SNP C T T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr17:31351022C>T uc002hhu.2 - 6 1327 c.1053G>A c.(1051-1053)GCG>GCA p.A351A ACCN1_uc002hht.2_Silent_p.A402A NM_001094 NP_001085 Q16515 ACCN1_HUMAN amiloride-sensitive cation channel 1, neuronal 351 Extracellular (By similarity). central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Breast(31;0.042)|Ovarian(249;0.202) UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215) Amiloride(DB00594) TGTCCTTTTCCGCCAACAGAC 0.532 C17orf53 78995 broad.mit.edu 37 17 42225478 42225478 + Missense_Mutation SNP C T T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr17:42225478C>T uc002ifi.1 + 3 492 c.307C>T c.(307-309)CCT>TCT p.P103S C17orf53_uc010czq.1_Missense_Mutation_p.P103S|C17orf53_uc002ifj.1_Missense_Mutation_p.P103S|C17orf53_uc002ifk.1_RNA NM_024032 NP_076937 Q8N3J3 CQ053_HUMAN hypothetical protein LOC78995 103 0 Breast(137;0.0364)|Prostate(33;0.0376) BRCA - Breast invasive adenocarcinoma(366;0.114) TCCCCTAAGGCCTGTCTCTAC 0.577 CTDP1 9150 broad.mit.edu 37 18 77513692 77513692 + Missense_Mutation SNP G A A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr18:77513692G>A uc002lnh.1 + 13 2935 c.2788G>A c.(2788-2790)GAG>AAG p.E930K CTDP1_uc002lni.1_3'UTR|CTDP1_uc010drd.1_3'UTR NM_004715 NP_004706 Q9Y5B0 CTDP1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, 930 positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm CTD phosphatase activity|DNA-directed RNA polymerase activity 0 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) CGCCGCCAGCGAGTCCAGCAG 0.617 MATK 4145 broad.mit.edu 37 19 3783948 3783948 + Missense_Mutation SNP G T T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr19:3783948G>T uc002lyt.2 - 6 846 c.446C>A c.(445-447)TCC>TAC p.S149Y MATK_uc002lyv.2_Missense_Mutation_p.S150Y|MATK_uc002lyu.2_Missense_Mutation_p.S108Y|MATK_uc010dtq.2_Missense_Mutation_p.S149Y NM_139355 NP_647612 P42679 MATK_HUMAN megakaryocyte-associated tyrosine kinase isoform 149 SH2. cell proliferation|mesoderm development|positive regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity stomach(2)|ovary(1)|lung(1)|large_intestine(1) 5 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) GTGGCGCGCGGACTCCCGCAC 0.682 NCAN 1463 broad.mit.edu 37 19 19351446 19351446 + Silent SNP C T T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr19:19351446C>T uc002nlz.2 + 12 3543 c.3444C>T c.(3442-3444)AAC>AAT p.N1148N NCAN_uc002nma.2_Translation_Start_Site NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 1148 C-type lectin. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) TCGGCCTGAACGACAGGATCG 0.637 NR1H2 7376 broad.mit.edu 37 19 50882422 50882423 + Frame_Shift_Ins INS - G G TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr19:50882422_50882423insG uc010enw.2 + 8 1190_1191 c.914_915insG c.(913-915)AAGfs p.K305fs NR1H2_uc002prv.3_RNA|NR1H2_uc002prz.3_Frame_Shift_Ins_p.K260fs|NR1H2_uc002psa.3_Frame_Shift_Ins_p.K207fs NM_007121 NP_009052 P55055 NR1H2_HUMAN nuclear receptor subfamily 1, group H, member 2 304 Ligand-binding (Potential). negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding 0 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) GCCCTCCTGAAGGCATCCACTA 0.574 KIR2DL1 3802 broad.mit.edu 37 19 55284915 55284915 + Silent SNP C T T rs144426670 byFrequency TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr19:55284915C>T uc002qhb.1 + 3 239 c.201C>T c.(199-201)AAC>AAT p.N67N KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Silent_p.N67N NM_014218 NP_055033 P43626 KI2L1_HUMAN killer cell immunoglobulin-like receptor, two 67 Extracellular (Potential).|Ig-like C2-type 1. immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity 0 GBM - Glioblastoma multiforme(193;0.0192) GGATGTTTAACGACACTTTGC 0.517 ZSCAN1 284312 broad.mit.edu 37 19 58565272 58565272 + Silent SNP C T T rs144381428 TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr19:58565272C>T uc002qrc.1 + 6 1327 c.1080C>T c.(1078-1080)TCC>TCT p.S360S NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 360 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CCCGGGAGTCCGTCCCACCCA 0.662 KIDINS220 57498 broad.mit.edu 37 2 8943255 8943255 + Silent SNP A G G TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr2:8943255A>G uc002qzc.2 - 8 788 c.606T>C c.(604-606)AAT>AAC p.N202N KIDINS220_uc010yiv.1_Silent_p.N11N|KIDINS220_uc002qzd.2_Silent_p.N160N|KIDINS220_uc010yiw.1_Silent_p.N203N NM_020738 NP_065789 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate of 220 kDa 202 ANK 7.|Cytoplasmic (Potential). activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane ovary(3)|central_nervous_system(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CAGTCATTGAATTCTAAAAAC 0.299 IL18RAP 8807 broad.mit.edu 37 2 103068411 103068411 + Missense_Mutation SNP C T T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr2:103068411C>T uc002tbx.2 + 12 2054 c.1570C>T c.(1570-1572)CCT>TCT p.P524S IL18RAP_uc010fiz.2_Missense_Mutation_p.P382S NM_003853 NP_003844 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 524 TIR.|Cytoplasmic (Potential). cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity skin(3)|ovary(2) 5 AGAGTCTCTACCTCATCTCGT 0.418 LIMS1 3987 broad.mit.edu 37 2 109292448 109292448 + Silent SNP C T T rs111779374 TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr2:109292448C>T uc002teg.2 + 6 728 c.609C>T c.(607-609)CGC>CGT p.R203R LIMS1_uc002tef.2_Silent_p.R215R|LIMS1_uc002teh.2_Silent_p.R203R|LIMS1_uc002tei.2_Silent_p.R203R|LIMS1_uc002tej.2_Silent_p.R240R|LIMS1_uc002tek.3_Silent_p.R265R NM_004987 NP_004978 P48059 LIMS1_HUMAN LIM and senescent cell antigen-like domains 1 203 LIM zinc-binding 4. cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent cytosol|focal adhesion|perinuclear region of cytoplasm protein binding|zinc ion binding 0 TCGAAGGGCGCGTGGTGAACG 0.537 DDX11L2 84771 broad.mit.edu 37 2 114357557 114357557 + Nonstop_Mutation SNP A G G rs115341812 by1000genomes TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr2:114357557A>G uc010yxx.1 - 3 709 c.382T>C c.(382-384)TAG>CAG p.*128Q SubName: Full=DEAD/H box polypeptide 11 like 2; 0 GCCTACTTCTAGTGAAACTGG 0.567 DPP10 57628 broad.mit.edu 37 2 116447456 116447456 + Missense_Mutation SNP G A A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr2:116447456G>A uc002tla.1 + 7 992 c.535G>A c.(535-537)GTC>ATC p.V179I DPP10_uc002tlb.1_Missense_Mutation_p.V129I|DPP10_uc002tlc.1_Missense_Mutation_p.V175I|DPP10_uc002tle.2_Missense_Mutation_p.V183I|DPP10_uc002tlf.1_Missense_Mutation_p.V172I NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 179 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 AGAGGACTCCGTCTTGCAGTA 0.438 CRYBB2 1415 broad.mit.edu 37 22 25627599 25627599 + Missense_Mutation SNP C T T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr22:25627599C>T uc003abp.1 + 6 526 c.478C>T c.(478-480)CGT>TGT p.R160C NM_000496 NP_000487 P43320 CRBB2_HUMAN crystallin, beta B2 160 Beta/gamma crystallin 'Greek key' 4. response to stimulus|visual perception structural constituent of eye lens 0 CCCCGGCTACCGTGGGCTGCA 0.473 CYP8B1 1582 broad.mit.edu 37 3 42916850 42916850 + Silent SNP C T T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr3:42916850C>T uc003cmh.2 - 1 784 c.459G>A c.(457-459)ACG>ACA p.T153T CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Silent_p.T153T NM_004391 NP_004382 Q9UNU6 CP8B1_HUMAN cytochrome P450, family 8, subfamily B, 153 bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249) AGCCTTTGGACGTCAGCATTA 0.512 MYLK 4638 broad.mit.edu 37 3 123376130 123376130 + Silent SNP C T T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr3:123376130C>T uc003ego.2 - 24 4413 c.4131G>A c.(4129-4131)ACG>ACA p.T1377T MYLK_uc010hrr.2_Translation_Start_Site|MYLK_uc011bjv.1_Silent_p.T177T|MYLK_uc011bjw.1_Silent_p.T1377T|MYLK_uc003egp.2_Silent_p.T1308T|MYLK_uc003egq.2_Silent_p.T1377T|MYLK_uc003egr.2_Silent_p.T1308T|MYLK_uc003egs.2_Silent_p.T1201T NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 1377 Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Fibronectin type-III. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GTTCCTTCCACGTCTTGTTGG 0.542 RTP1 132112 broad.mit.edu 37 3 186917604 186917604 + Missense_Mutation SNP C T T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr3:186917604C>T uc003frg.2 + 2 568 c.538C>T c.(538-540)CGC>TGC p.R180C NM_153708 NP_714919 P59025 RTP1_HUMAN receptor transporting protein 1 180 Cytoplasmic (Potential). protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding ovary(2)|breast(1) 3 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) CGTGGCCAGCCGCCAGGACAA 0.682 HPSE 10855 broad.mit.edu 37 4 84223384 84223384 + Missense_Mutation SNP C T T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr4:84223384C>T uc003hoj.3 - 10 1343 c.1244G>A c.(1243-1245)GGC>GAC p.G415D HPSE_uc010ika.2_Missense_Mutation_p.G357D|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_RNA|HPSE_uc011ccs.1_Missense_Mutation_p.G158D|HPSE_uc011cct.1_Missense_Mutation_p.G341D|HPSE_uc003hok.3_Missense_Mutation_p.G415D NM_001098540 NP_001092010 Q9Y251 HPSE_HUMAN heparanase precursor 415 carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process extracellular region|lysosomal membrane|nucleus beta-glucuronidase activity|cation binding ovary(1) 1 Hepatocellular(203;0.114) COAD - Colon adenocarcinoma(81;0.141) Heparin(DB01109) CACCTTGGTGCCCACCAATTT 0.403 ZFP42 132625 broad.mit.edu 37 4 188924752 188924752 + Missense_Mutation SNP C T T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr4:188924752C>T uc003izg.1 + 3 1036 c.791C>T c.(790-792)ACG>ATG p.T264M ZFP42_uc003izh.1_Missense_Mutation_p.T264M|ZFP42_uc003izi.1_Missense_Mutation_p.T264M NM_174900 NP_777560 Q96MM3 ZFP42_HUMAN zinc finger protein 42 264 C2H2-type 3. female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) AATTTGCGTACGCACGTGCGC 0.483 AHRR 57491 broad.mit.edu 37 5 422883 422883 + Missense_Mutation SNP G A A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr5:422883G>A uc003jav.2 + 6 537 c.493G>A c.(493-495)GTG>ATG p.V165M AHRR_uc003jaw.2_Missense_Mutation_p.V161M|AHRR_uc010isy.2_Missense_Mutation_p.V11M|AHRR_uc010isz.2_Missense_Mutation_p.V161M|AHRR_uc003jax.2_Translation_Start_Site|AHRR_uc003jay.2_Missense_Mutation_p.V21M NM_020731 NP_065782 A9YTQ3 AHRR_HUMAN arylhydrocarbon receptor repressor 165 PAS. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2) 2 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) CTACATCCACGTGGACGACCG 0.547 MAP3K1 4214 broad.mit.edu 37 5 56160697 56160697 + Missense_Mutation SNP C T T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr5:56160697C>T uc003jqw.3 + 4 1472 c.971C>T c.(970-972)CCT>CTT p.P324L NM_005921 NP_005912 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 324 cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) CAGATAGGGCCTAACTCTTTC 0.468 PIK3R1 5295 broad.mit.edu 37 5 67576379 67576379 + Missense_Mutation SNP A T T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr5:67576379A>T uc003jva.2 + 6 1218 c.658A>T c.(658-660)ATT>TTT p.I220F PIK3R1_uc003jvb.2_Missense_Mutation_p.I220F NM_181523 NP_852664 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 220 Rho-GAP. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.?(1) endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1) 101 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) CGAAGAATATATTCAGCTATT 0.343 Mis|F|O gliobastoma|ovarian|colorectal TCGA GBM(4;<1E-08) ZNF608 57507 broad.mit.edu 37 5 123984804 123984804 + Missense_Mutation SNP C A A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr5:123984804C>A uc003ktq.1 - 4 1396 c.1273G>T c.(1273-1275)GAC>TAC p.D425Y ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.D425Y|ZNF608_uc003ktt.1_Missense_Mutation_p.D425Y NM_020747 NP_065798 Q9ULD9 ZN608_HUMAN zinc finger protein 608 425 intracellular zinc ion binding skin(3)|ovary(2)|lung(1) 6 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) ATCTCCAGGTCACTTGTCGGT 0.552 FBXO38 81545 broad.mit.edu 37 5 147781654 147781654 + Silent SNP G A A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr5:147781654G>A uc003lpf.1 + 4 492 c.372G>A c.(370-372)GAG>GAA p.E124E FBXO38_uc003lpg.1_Silent_p.E124E|FBXO38_uc003lph.2_Silent_p.E124E NM_205836 NP_995308 Q6PIJ6 FBX38_HUMAN F-box protein 38 isoform b 124 cytoplasm|nucleus ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGGCCATGAGGCTTTTAGCA 0.448 NDUFAF4 29078 broad.mit.edu 37 6 97344693 97344693 + Missense_Mutation SNP C T T rs142963790 TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr6:97344693C>T uc003pow.2 - 2 257 c.167G>A c.(166-168)CGT>CAT p.R56H NDUFAF4_uc003pov.2_RNA NM_014165 NP_054884 Q9P032 NDUF4_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 56 mitochondrial respiratory chain complex I assembly mitochondrial membrane calmodulin binding ovary(1) 1 TTCATCTTTACGAGCAATCTC 0.333 GRM1 2911 broad.mit.edu 37 6 146755476 146755476 + Silent SNP C A A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr6:146755476C>A uc010khw.1 + 9 3599 c.3129C>A c.(3127-3129)ACC>ACA p.T1043T GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 1043 Cytoplasmic (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) ACTTCAGTACCGCGATCCCGG 0.672 TIAM2 26230 broad.mit.edu 37 6 155566797 155566797 + Missense_Mutation SNP C T T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr6:155566797C>T uc003qqb.2 + 21 4857 c.3584C>T c.(3583-3585)GCG>GTG p.A1195V TIAM2_uc003qqe.2_Missense_Mutation_p.A1195V|TIAM2_uc010kjj.2_Missense_Mutation_p.A728V|TIAM2_uc003qqf.2_Missense_Mutation_p.A571V|TIAM2_uc011efl.1_Missense_Mutation_p.A531V|TIAM2_uc003qqg.2_Missense_Mutation_p.A507V|TIAM2_uc003qqh.2_Missense_Mutation_p.A120V NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 1195 DH. apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) CTTTATTACGCGGACCACTTT 0.403 ZPBP 11055 broad.mit.edu 37 7 50097645 50097645 + Missense_Mutation SNP C T T rs148913753 TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr7:50097645C>T uc003tou.2 - 4 497 c.427G>A c.(427-429)GAA>AAA p.E143K ZPBP_uc011kci.1_Missense_Mutation_p.E69K|ZPBP_uc010kyw.2_Missense_Mutation_p.E142K NM_007009 NP_008940 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein isoform 1 143 binding of sperm to zona pellucida extracellular region 0 Glioma(55;0.08)|all_neural(89;0.245) GGTTTATATTCGAGGAAACAT 0.328 EGFR 1956 broad.mit.edu 37 7 55221822 55221822 + Missense_Mutation SNP C T T rs149840192 TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr7:55221822C>T uc003tqk.2 + 7 1112 c.866C>T c.(865-867)GCC>GTC p.A289V EGFR_uc003tqh.2_Missense_Mutation_p.A289V|EGFR_uc003tqi.2_Missense_Mutation_p.A289V|EGFR_uc003tqj.2_Missense_Mutation_p.A289V|EGFR_uc010kzg.1_Missense_Mutation_p.A244V|EGFR_uc011kco.1_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 289 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) AGCTTTGGTGCCACCTGCGTG 0.592 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) TYW1B 441250 broad.mit.edu 37 7 72093896 72093896 + Silent SNP C T T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr7:72093896C>T uc011kej.1 - 15 1752 c.1593G>A c.(1591-1593)GGG>GGA p.G531G TYW1B_uc011keh.1_Silent_p.G369G|TYW1B_uc011kei.1_Silent_p.G157G NM_001145440 NP_001138912 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B isoform 531 tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity 0 AGTCAGGATTCCCCAGGGACA 0.537 EPO 2056 broad.mit.edu 37 7 100319586 100319586 + Missense_Mutation SNP C T T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr7:100319586C>T uc003uwi.2 + 3 342 c.161C>T c.(160-162)ACG>ATG p.T54M EPO_uc011kkc.1_Missense_Mutation_p.T54M NM_000799 NP_000790 P01588 EPO_HUMAN erythropoietin precursor 54 blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction extracellular space erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity central_nervous_system(2) 2 Lung NSC(181;0.041)|all_lung(186;0.0581) Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016) GCATTTCAGACGGGCTGTGCT 0.532 LAMB1 3912 broad.mit.edu 37 7 107575937 107575937 + Nonsense_Mutation SNP G A A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr7:107575937G>A uc003vew.2 - 27 4446 c.4111C>T c.(4111-4113)CAA>TAA p.Q1371* LAMB1_uc003vev.2_Nonsense_Mutation_p.Q1395* NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 1371 Potential.|Domain II. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 8 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGCTCCTCTTGTTTTTCCTTG 0.532 ASZ1 136991 broad.mit.edu 37 7 117024875 117024875 + Missense_Mutation SNP C G G TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr7:117024875C>G uc003vjb.2 - 6 655 c.592G>C c.(592-594)GTT>CTT p.V198L ASZ1_uc011kno.1_Missense_Mutation_p.V198L|ASZ1_uc011knp.1_5'UTR NM_130768 NP_570124 Q8WWH4 ASZ1_HUMAN ankyrin repeat, SAM and basic leucine zipper 198 ANK 5. cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body signal transducer activity central_nervous_system(2)|ovary(1) 3 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) AACTTCAAAACTATATTTTTA 0.383 IFNA10 3446 broad.mit.edu 37 9 21206859 21206859 + Missense_Mutation SNP G A A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr9:21206859G>A uc003zoq.1 - 1 284 c.238C>T c.(238-240)CTC>TTC p.L80F IFNA14_uc003zoo.1_Intron NM_002171 NP_002162 P01566 IFN10_HUMAN interferon, alpha 10 precursor 80 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding 0 Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17) ATCTCATGGAGGACAGAGATG 0.483 IFNA10 3446 broad.mit.edu 37 9 21206861 21206861 + Missense_Mutation SNP A G G TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr9:21206861A>G uc003zoq.1 - 1 282 c.236T>C c.(235-237)GTC>GCC p.V79A IFNA14_uc003zoo.1_Intron NM_002171 NP_002162 P01566 IFN10_HUMAN interferon, alpha 10 precursor 79 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding 0 Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17) CTCATGGAGGACAGAGATGGC 0.488 ZNF618 114991 broad.mit.edu 37 9 116750724 116750724 + Silent SNP C T T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr9:116750724C>T uc004bid.2 + 3 300 c.201C>T c.(199-201)CCC>CCT p.P67P ZNF618_uc004bib.1_Silent_p.P67P|ZNF618_uc004bic.2_Silent_p.P67P|ZNF618_uc011lxi.1_Silent_p.P67P|ZNF618_uc011lxj.1_Silent_p.P67P NM_133374 NP_588615 Q5T7W0 ZN618_HUMAN zinc finger protein 618 67 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CAGAGCTGCCCGATGACTACA 0.632 SNAPC4 6621 broad.mit.edu 37 9 139282191 139282192 + Splice_Site INS - A A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr9:139282191_139282192insA uc004chh.2 - 11 1239 c.1230_splice c.e11+1 p.A410_splice NM_003086 NP_003077 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity 0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) CCCGCACACTTACAGCATCTTC 0.579 NOXA1 10811 broad.mit.edu 37 9 140325755 140325755 + Missense_Mutation SNP G A A rs141558298 TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr9:140325755G>A uc004cmv.2 + 8 901 c.766G>A c.(766-768)GGT>AGT p.G256S C9orf167_uc011mew.1_Intron|NOXA1_uc004cmu.2_Missense_Mutation_p.G256S|NOXA1_uc010nch.2_Missense_Mutation_p.G200S NM_006647 NP_006638 Q86UR1 NOXA1_HUMAN NADPH oxidase activator 1 256 regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process cytoplasm|NADPH oxidase complex Rac GTPase binding|superoxide-generating NADPH oxidase activator activity 0 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982) GACAGAGGTCGGTGCTGACCG 0.672 TUBBP5 643224 broad.mit.edu 37 9 141071420 141071420 + Missense_Mutation SNP G A A rs147421666 by1000genomes TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr9:141071420G>A uc004com.2 + 4 1084 c.823G>A c.(823-825)GAC>AAC p.D275N TUBBP5_uc010ncq.2_3'UTR RecName: Full=Putative tubulin beta-4q chain; 0 CTGGTTCCCCGACAACGTAAA 0.512 ARHGAP6 395 broad.mit.edu 37 X 11160414 11160414 + Silent SNP G A A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chrX:11160414G>A uc004cup.1 - 12 3069 c.2196C>T c.(2194-2196)TTC>TTT p.F732F ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cum.1_Silent_p.F529F|ARHGAP6_uc004cun.1_Silent_p.F552F NM_013427 NP_038286 O43182 RHG06_HUMAN Rho GTPase activating protein 6 isoform 1 732 actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity urinary_tract(1)|lung(1) 2 CCCAGATATCGAAAGGCTCCT 0.318 SCML2 10389 broad.mit.edu 37 X 18348708 18348708 + Silent SNP C T T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chrX:18348708C>T uc004cyl.2 - 3 247 c.90G>A c.(88-90)AGG>AGA p.R30R SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Silent_p.R30R|SCML2_uc011miz.1_Intron NM_006089 NP_006080 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 30 anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(33;0.183) AAAACCTACCCCTTTGTACAG 0.308 DCAF8L2 347442 broad.mit.edu 37 X 27765650 27765650 + Missense_Mutation SNP C A A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chrX:27765650C>A uc011mjy.1 + 1 725 c.638C>A c.(637-639)GCC>GAC p.A213D NM_001136533 NP_001130005 DDB1 and CUL4 associated factor 8-like 2 central_nervous_system(1)|pancreas(1) 2 GGGGCAAGAGCCTTTGTGCAG 0.592 FAM47C 442444 broad.mit.edu 37 X 37028542 37028542 + Missense_Mutation SNP G A A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chrX:37028542G>A uc004ddl.1 + 1 2073 c.2059G>A c.(2059-2061)GTA>ATA p.V687I NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 687 ovary(3) 3 AGAGACTCGCGTATCTCATCT 0.657 BCORL1 63035 broad.mit.edu 37 X 129149265 129149265 + Silent SNP G A A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chrX:129149265G>A uc004evb.1 + 4 2631 c.2517G>A c.(2515-2517)GCG>GCA p.A839A BCORL1_uc010nrd.1_Silent_p.A741A NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 co-repressor-like 1 839 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(4)|breast(2)|lung(1) 7 ACCACCAGGCGTCTCTGCTTT 0.607 GPR112 139378 broad.mit.edu 37 X 135485475 135485475 + Missense_Mutation SNP C A A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chrX:135485475C>A uc004ezu.1 + 22 8939 c.8648C>A c.(8647-8649)ACT>AAT p.T2883N GPR112_uc010nsb.1_Missense_Mutation_p.T2678N NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 2883 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) AGCCCAACAACTCCGTTGTAA 0.498 RBMX 27316 broad.mit.edu 37 X 135961572 135961572 + Missense_Mutation SNP A T T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chrX:135961572A>T uc004fae.1 - 2 225 c.15T>A c.(13-15)GAT>GAA p.D5E RBMX_uc011mwf.1_Missense_Mutation_p.D5E|RBMX_uc004fad.1_Missense_Mutation_p.D5E|RBMX_uc011mwg.1_5'UTR|RBMX_uc004faf.1_5'UTR|RBMX_uc010nsf.1_Intron|RBMX_uc004fag.1_Intron|SNORD61_uc004fah.1_5'Flank NM_002139 NP_002130 P38159 HNRPG_HUMAN RNA binding motif protein, X-linked isoform 1 5 catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding ovary(1) 1 Acute lymphoblastic leukemia(192;0.000127) TTCCTGGGCGATCTGCTTCAA 0.403