Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample CPSF3L 54973 broad.mit.edu 37 1 1248252 1248252 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:1248252G>A uc001aee.1 - 12 1267 c.1209C>T c.(1207-1209)GGC>GGT p.G403G CPSF3L_uc009vjy.1_RNA|CPSF3L_uc001aef.1_Silent_p.G409G|CPSF3L_uc009vjz.1_Silent_p.G381G|CPSF3L_uc010nyj.1_Silent_p.G374G|CPSF3L_uc001aeg.1_Silent_p.G279G|CPSF3L_uc001aeh.1_Silent_p.G302G|CPSF3L_uc001aei.1_Silent_p.G305G|CPSF3L_uc001aej.1_Silent_p.G230G|CPSF3L_uc001aek.1_Silent_p.G145G NM_017871 NP_060341 Q5TA45 INT11_HUMAN cleavage and polyadenylation specific factor 403 Golgi apparatus|nucleus hydrolase activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201) GCTCTGCCTGGCCCACCAGCT 0.632 NaN 0 0 0 0.01441 0 59 5 KIAA0562 9731 broad.mit.edu 37 1 3742336 3742336 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:3742336C>A uc001aky.2 - 18 2709 c.2350G>T c.(2350-2352)GAC>TAC p.D784Y KIAA0562_uc010nzm.1_RNA NM_014704 NP_055519 O60308 CE104_HUMAN glycine-, glutamate-, 784 centriole binding 0 all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227) all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212) Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137) TTGCAGTGGTCACATCTTGTC 0.507 NaN 1 0 1.61004e-24 0.01441 2.02165e-24 45 32 MFN2 9927 broad.mit.edu 37 1 12057360 12057360 + Missense_Mutation SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:12057360A>G uc001atn.3 + 6 934 c.481A>G c.(481-483)AAC>GAC p.N161D MFN2_uc009vni.2_Missense_Mutation_p.N161D NM_014874 NP_055689 O95140 MFN2_HUMAN mitofusin 2 161 Cytoplasmic (Potential). blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion cytosol|integral to membrane|intrinsic to mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding ovary(1) 1 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) TCAGACTGTGAACCAGCTGGC 0.572 NaN 0 0 0 0.01441 0 50 4 TNFRSF1B 7133 broad.mit.edu 37 1 12251959 12251959 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:12251959G>T uc001att.2 + 4 525 c.436G>T c.(436-438)GGC>TGC p.G146C TNFRSF1B_uc001atu.2_5'UTR|TNFRSF1B_uc009vnk.2_RNA NM_001066 NP_001057 P20333 TNR1B_HUMAN tumor necrosis factor receptor 2 precursor 146 TNFR-Cys 3.|Extracellular (Potential). apoptosis extracellular region|integral to membrane|membrane raft|plasma membrane tumor necrosis factor receptor activity liver(1)|central_nervous_system(1)|skin(1) 3 Ovarian(185;0.249) Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284) Etanercept(DB00005)|Infliximab(DB00065) GTGCCGCCCGGGCTTCGGCGT 0.682 NaN 1 0 6.75472e-32 0.01441 9.01171e-32 58 5 UBR4 23352 broad.mit.edu 37 1 19404471 19404471 + Missense_Mutation SNP T T G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:19404471T>G uc001bbi.2 - 104 15327 c.15323A>C c.(15322-15324)AAG>ACG p.K5108T UBR4_uc001bbe.1_5'Flank|UBR4_uc001bbf.2_Missense_Mutation_p.K3T|UBR4_uc010ocv.1_Missense_Mutation_p.K631T|UBR4_uc009vph.2_Missense_Mutation_p.K742T|UBR4_uc010ocw.1_Missense_Mutation_p.K772T|UBR4_uc001bbg.2_Missense_Mutation_p.K819T|UBR4_uc001bbh.2_Missense_Mutation_p.K817T NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 5108 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) CCTCCTTACCTTAAACATGTT 0.507 NaN 0 0 0 0.01441 0 43 2 PTPRU 10076 broad.mit.edu 37 1 29638200 29638200 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:29638200G>C uc001bru.2 + 22 3141 c.3031G>C c.(3031-3033)GAC>CAC p.D1011H PTPRU_uc001brv.2_Missense_Mutation_p.D1007H|PTPRU_uc001brw.2_Missense_Mutation_p.D1001H|PTPRU_uc009vtq.2_Missense_Mutation_p.D1007H|PTPRU_uc009vtr.2_Missense_Mutation_p.D998H NM_005704 NP_005695 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 1011 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 7 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) CACCTACGGGGACATCAAGAT 0.607 NaN 0 0 0 0.013114 0 45 88 UROD 7389 broad.mit.edu 37 1 45480182 45480182 + Silent SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:45480182C>T uc001cna.1 + 7 816 c.708C>T c.(706-708)TAC>TAT p.Y236Y UROD_uc001cnb.1_Silent_p.Y201Y|UROD_uc010olj.1_3'UTR|UROD_uc001cnc.1_Silent_p.Y141Y NM_000374 NP_000365 P06132 DCUP_HUMAN uroporphyrinogen decarboxylase 236 cytosol|microtubule cytoskeleton|nucleus uroporphyrinogen decarboxylase activity 0 Acute lymphoblastic leukemia(166;0.155) CACTGCCTTACATCCGTGATG 0.542 NaN Porphyria_Cutanea_Tarda_Type_II OREG0013449 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.01441 0 67 3 USP24 23358 broad.mit.edu 37 1 55549036 55549036 + Missense_Mutation SNP T T G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:55549036T>G uc001cyg.3 - 55 6404 c.6404A>C c.(6403-6405)CAA>CCA p.Q2135P NM_015306 NP_056121 Q9UPU5 UBP24_HUMAN ubiquitin specific protease 24 2295 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(6)|kidney(6)|breast(1) 13 CCTAATTCCTTGCTGTCACAA 0.393 NaN 0 0 0 0.021523 0 26 6 INADL 10207 broad.mit.edu 37 1 62240939 62240939 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:62240939G>T uc001dab.2 + 7 896 c.782G>T c.(781-783)GGA>GTA p.G261V INADL_uc009waf.1_Missense_Mutation_p.G261V|INADL_uc001daa.2_Missense_Mutation_p.G261V|INADL_uc001dad.3_5'UTR NM_176877 NP_795352 Q8NI35 INADL_HUMAN InaD-like 261 PDZ 2. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding ovary(3)|skin(1) 4 CTAGGTTTTGGAATAGTTGGA 0.413 NaN 1 0 6.70656e-16 0.01441 7.80323e-16 61 96 KANK4 163782 broad.mit.edu 37 1 62739459 62739459 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:62739459G>A uc001dah.3 - 3 1694 c.1317C>T c.(1315-1317)AGC>AGT p.S439S KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank NM_181712 NP_859063 Q5T7N3 KANK4_HUMAN ankyrin repeat domain 38 439 ovary(3)|skin(2)|lung(1) 6 CAGACTCCATGCTGCCTAGAA 0.562 NaN 0 0 0 0.01441 0 116 105 SGIP1 84251 broad.mit.edu 37 1 67147961 67147961 + Missense_Mutation SNP A A T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:67147961A>T uc001dcr.2 + 15 1441 c.1224A>T c.(1222-1224)AGA>AGT p.R408S SGIP1_uc010opd.1_Intron|SGIP1_uc001dcs.2_Intron|SGIP1_uc001dct.2_Intron|SGIP1_uc009wat.2_Missense_Mutation_p.R175S NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting 408 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding ovary(3) 3 TGGGACAAAGAGCAACTCCAC 0.512 NaN 0 0 0 0.004656 0 26 179 MIER1 57708 broad.mit.edu 37 1 67436628 67436628 + Missense_Mutation SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:67436628A>G uc001dde.2 + 9 1044 c.910A>G c.(910-912)AAA>GAA p.K304E MIER1_uc010opf.1_Missense_Mutation_p.K268E|MIER1_uc009way.2_Missense_Mutation_p.K268E|MIER1_uc001ddc.2_Missense_Mutation_p.K304E|MIER1_uc001ddh.2_Missense_Mutation_p.K188E|MIER1_uc001ddf.2_Missense_Mutation_p.K268E|MIER1_uc001ddg.2_Missense_Mutation_p.K224E|MIER1_uc010opg.1_Missense_Mutation_p.K268E|MIER1_uc001ddj.1_Missense_Mutation_p.K251E|MIER1_uc001ddi.2_Missense_Mutation_p.K251E NM_001077700 NP_001071168 Q8N108 MIER1_HUMAN mesoderm induction early response 1 isoform b 275 ELM2.|Interaction with HDAC1. positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity ovary(1) 1 ATCTCACATAAAAGACAATGA 0.353 NaN 0 0 0 0.01892 0 19 42 FPGT 8790 broad.mit.edu 37 1 74670542 74670542 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:74670542G>C uc001dgb.1 + 4 848 c.811G>C c.(811-813)GAT>CAT p.D271H TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Intron|FPGT_uc010oqu.1_Intron|FPGT_uc010oqv.1_Intron NM_003838 NP_003829 O14772 FPGT_HUMAN fucose-1-phosphate guanyltransferase 271 fucose metabolic process cytoplasm fucose-1-phosphate guanylyltransferase activity|GTP binding skin(1) 1 TGTCTACACAGATAGCCTATT 0.368 NaN 0 0 0 0.021523 0 25 21 BARHL2 343472 broad.mit.edu 37 1 91178154 91178154 + Silent SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:91178154C>A uc001dns.2 - 3 921 c.879G>T c.(877-879)GTG>GTT p.V293V NM_020063 NP_064447 Q9NY43 BARH2_HUMAN BarH-like homeobox 2 293 nucleus sequence-specific DNA binding ovary(1) 1 all_lung(203;0.0263)|Lung SC(238;0.128) all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211) ACTCCAGGCCCACCGCTGTCT 0.617 NaN 1 0 9.16793e-09 0.00499 9.76622e-09 17 19 CCDC18 343099 broad.mit.edu 37 1 93667528 93667528 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:93667528G>A uc001dpq.2 + 7 1300 c.1132G>A c.(1132-1134)GCT>ACT p.A378T NM_206886 NP_996769 Q5T9S5 CCD18_HUMAN sarcoma antigen NY-SAR-41 260 Potential. ovary(2)|breast(2)|pancreas(1) 5 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) AAAAAAAGTGGCTGAAAAACT 0.308 NaN 0 0 0 0.00499 0 17 17 ANKRD35 148741 broad.mit.edu 37 1 145561389 145561389 + Silent SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:145561389C>T uc001eob.1 + 10 1185 c.1077C>T c.(1075-1077)GGC>GGT p.G359G NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Silent_p.G202G NM_144698 NP_653299 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 359 ovary(4)|skin(1) 5 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GAAAGCAAGGCTCTAGTCTCC 0.582 NaN 0 0 0 0.010504 0 22 30 HIST2H3D 653604 broad.mit.edu 37 1 149785176 149785176 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:149785176G>A uc010pbl.1 - 1 61 c.61C>T c.(61-63)CTG>TTG p.L21L HIST2H2BF_uc010pbj.1_5'Flank|HIST2H2BF_uc010pbk.1_5'Flank|HIST2H2BF_uc001esr.2_5'Flank NM_001123375 NP_001116847 Q71DI3 H32_HUMAN histone cluster 2, H3d 21 blood coagulation|nucleosome assembly nucleoplasm|nucleosome DNA binding|protein binding 0 TTGGTAGCCAGCTGCTTCCTC 0.667 NaN 0 0 0 0.012213 0 21 75 SNX27 81609 broad.mit.edu 37 1 151611551 151611551 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:151611551G>A uc001eyn.1 + 2 515 c.499G>A c.(499-501)GTC>ATC p.V167I SNX27_uc001eyo.2_Missense_Mutation_p.V74I|SNX27_uc001eyp.2_5'UTR NM_030918 NP_112180 Q96L92 SNX27_HUMAN sorting nexin family member 27 167 PX. cell communication|protein transport|signal transduction cytosol|early endosome phosphatidylinositol binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) GCCCATATCGGTCCCCAGATA 0.463 NaN 0 0 0 0.01441 0 49 73 EFNA1 1942 broad.mit.edu 37 1 155104034 155104034 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:155104034G>A uc001fhh.2 + 2 417 c.312G>A c.(310-312)CTG>CTA p.L104L EFNA1_uc001fhi.2_Silent_p.L104L|EFNA1_uc009wpd.1_5'Flank NM_004428 NP_004419 P20827 EFNA1_HUMAN ephrin A1 isoform a precursor 104 angiogenesis|aortic valve morphogenesis|cell migration|cell-cell signaling|endocardial cushion to mesenchymal transition involved in heart valve formation|ephrin receptor signaling pathway|mitral valve morphogenesis|negative regulation of epithelial to mesenchymal transition|negative regulation of transcription from RNA polymerase II promoter|positive regulation of peptidyl-tyrosine phosphorylation|regulation of cell adhesion mediated by integrin|substrate adhesion-dependent cell spreading extracellular region|integral to plasma membrane ephrin receptor binding 0 all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193) CGGAGAAGCTGTCTGAGAAGT 0.582 NaN 0 0 0 0.012319 0 22 41 CCT3 7203 broad.mit.edu 37 1 156294831 156294831 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:156294831G>C uc001fol.1 - 6 574 c.354C>G c.(352-354)CAC>CAG p.H118Q CCT3_uc001fom.1_Missense_Mutation_p.H117Q|CCT3_uc001fon.1_Missense_Mutation_p.H80Q|CCT3_uc010phj.1_Missense_Mutation_p.H72Q|CCT3_uc010phk.1_Missense_Mutation_p.H72Q|CCT3_uc010phl.1_Missense_Mutation_p.H72Q NM_005998 NP_005989 P49368 TCPG_HUMAN chaperonin containing TCP1, subunit 3 isoform a 118 'de novo' posttranslational protein folding cytoskeleton|cytosol|plasma membrane ATP binding|unfolded protein binding ovary(1)|skin(1) 2 Hepatocellular(266;0.158) CCACTGTTGGGTGCATCTGCT 0.433 NaN 0 0 0 0.021022 0 37 90 FCRL4 83417 broad.mit.edu 37 1 157557731 157557731 + Silent SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:157557731A>G uc001fqw.2 - 4 622 c.486T>C c.(484-486)AAT>AAC p.N162N FCRL4_uc010phy.1_Intron NM_031282 NP_112572 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 precursor 162 Extracellular (Potential).|Ig-like C2-type 2. integral to membrane|plasma membrane receptor activity ovary(2)|kidney(1)|skin(1) 4 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) GATAATTGCCATTGTTATTTG 0.308 NaN 0 0 0 0.016723 0 13 14 SPTA1 6708 broad.mit.edu 37 1 158590242 158590242 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:158590242G>A uc001fst.1 - 44 6334 c.6135C>T c.(6133-6135)TTC>TTT p.F2045F NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 2045 Spectrin 20. 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) CAAATTCCACGAACAGGTCCT 0.368 NaN 0 0 0 0.007413 0 19 50 SPTA1 6708 broad.mit.edu 37 1 158641934 158641934 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:158641934C>A uc001fst.1 - 11 1602 c.1403G>T c.(1402-1404)CGT>CTT p.R468L NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 468 Spectrin 5. 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) CTGACGATGACGCTCGTCCCA 0.438 NaN 1 0 7.73544e-29 0.01441 1.01254e-28 64 52 SLAMF8 56833 broad.mit.edu 37 1 159802972 159802972 + Splice_Site SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:159802972G>A uc001fue.3 + 3 883 c.673_splice c.e3+1 p.A225_splice NM_020125 NP_064510 Q9P0V8 SLAF8_HUMAN SLAM family member 8 precursor integral to membrane 0 all_hematologic(112;0.0597) CATGAGGCAGGTATGCTAAGG 0.562 NaN 0 0 0 0.01441 0 105 62 DCAF8 50717 broad.mit.edu 37 1 160209813 160209813 + Nonsense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:160209813C>A uc001fvo.2 - 4 709 c.397G>T c.(397-399)GAG>TAG p.E133* DCAF8_uc001fvn.2_Nonsense_Mutation_p.E133*|DCAF8_uc009wth.2_Nonsense_Mutation_p.E133*|DCAF8_uc010pjb.1_Nonsense_Mutation_p.E133*|DCAF8_uc010pjc.1_Nonsense_Mutation_p.E287*|DCAF8_uc001fvq.3_Nonsense_Mutation_p.E133*|DCAF8_uc001fvp.3_Nonsense_Mutation_p.E133*|uc010pjd.1_3'UTR NM_015726 NP_056541 Q5TAQ9 DCAF8_HUMAN DDB1 and CUL4 associated factor 8 133 CUL4 RING ubiquitin ligase complex protein binding skin(2) 2 AGGGCCCGCTCATCATCTGAT 0.512 NaN 1 0 3.21987e-24 0.01441 4.03392e-24 46 80 UCK2 7371 broad.mit.edu 37 1 165860506 165860506 + Silent SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:165860506C>T uc001gdp.2 + 3 484 c.303C>T c.(301-303)ATC>ATT p.I101I UCK2_uc010plb.1_Missense_Mutation_p.S11L NM_012474 NP_036606 Q9BZX2 UCK2_HUMAN uridine-cytidine kinase 2 101 pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity ovary(1) 1 all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155) TCAAAGAAATCACTGAAGGGA 0.413 NaN 0 0 0 0.005524 0 37 94 DUSP27 92235 broad.mit.edu 37 1 167096802 167096802 + Missense_Mutation SNP T T G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:167096802T>G uc001geb.1 + 5 2434 c.2434T>G c.(2434-2436)TGC>GGC p.C812G NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 812 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 CGCGGAAAGTTGCAGAAGCAA 0.562 NaN 0 0 0 0.01441 0 88 51 RCSD1 92241 broad.mit.edu 37 1 167653169 167653169 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:167653169C>A uc001gem.2 + 2 226 c.39C>A c.(37-39)GAC>GAA p.D13E RCSD1_uc010pli.1_Missense_Mutation_p.D13E NM_052862 NP_443094 Q6JBY9 CPZIP_HUMAN RCSD domain containing 1 13 ovary(2)|central_nervous_system(2)|skin(1) 5 all_hematologic(923;0.215) CCAATGTGGACAACTCGGCGT 0.587 NaN 1 0 2.4537e-52 0.01441 3.45635e-52 120 313 ASTN1 460 broad.mit.edu 37 1 176863873 176863873 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:176863873G>A uc001glc.2 - 17 2977 c.2765C>T c.(2764-2766)ACC>ATC p.T922I ASTN1_uc001glb.1_Missense_Mutation_p.T922I|ASTN1_uc001gld.1_Missense_Mutation_p.T922I NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 930 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 CATGTGCTTGGTGCCGGAGTC 0.597 NaN 0 0 0 0.01441 0 36 142 C1orf49 84066 broad.mit.edu 37 1 178483197 178483197 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:178483197G>A uc001glt.1 + 2 187 c.75G>A c.(73-75)AAG>AAA p.K25K C1orf49_uc001glu.1_Silent_p.K25K|C1orf49_uc001glv.1_RNA|C1orf49_uc001glw.1_Silent_p.K33K NM_032126 NP_115502 Q5T0J7 CA049_HUMAN hypothetical protein LOC84066 25 microtubule cytoskeleton 0 TGGAATTGAAGCCAGAGCCGA 0.507 NaN 0 0 0 0.015359 0 35 78 QSOX1 5768 broad.mit.edu 37 1 180165664 180165664 + Missense_Mutation SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:180165664A>G uc001gnz.2 + 12 1811 c.1736A>G c.(1735-1737)GAC>GGC p.D579G QSOX1_uc001gny.2_Missense_Mutation_p.D579G|QSOX1_uc001goa.2_Missense_Mutation_p.D579G|QSOX1_uc001goc.2_Missense_Mutation_p.D121G|FLJ23867_uc001god.3_5'Flank NM_002826 NP_002817 O00391 QSOX1_HUMAN quiescin Q6 sulfhydryl oxidase 1 isoform a 579 cell redox homeostasis|protein thiol-disulfide exchange extracellular space|integral to Golgi membrane flavin-linked sulfhydryl oxidase activity ovary(1)|central_nervous_system(1) 2 TCAACTCTGGACCCTGGGAAG 0.642 NaN 0 0 0 0.01441 0 74 143 GLT25D2 23127 broad.mit.edu 37 1 183933111 183933111 + Silent SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:183933111C>A uc001gqr.2 - 6 1248 c.876G>T c.(874-876)CTG>CTT p.L292L GLT25D2_uc010poj.1_Silent_p.L292L|GLT25D2_uc001gqq.2_Silent_p.L29L|GLT25D2_uc001gqs.2_Silent_p.L172L NM_015101 NP_055916 Q8IYK4 GT252_HUMAN glycosyltransferase 25 domain containing 2 292 lipopolysaccharide biosynthetic process endoplasmic reticulum lumen procollagen galactosyltransferase activity ovary(1)|breast(1) 2 GGGGGATGGGCAGGTAGCCAT 0.522 NaN 1 0 4.7796e-09 0.004656 5.11114e-09 24 59 IVNS1ABP 10625 broad.mit.edu 37 1 185278644 185278644 + Splice_Site SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:185278644C>A uc001grl.2 - 3 606 c.-17_splice c.e3-1 IVNS1ABP_uc009wyj.2_Splice_Site|IVNS1ABP_uc009wyk.2_Splice_Site NM_006469 NP_006460 Q9Y6Y0 NS1BP_HUMAN influenza virus NS1A binding protein interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex ovary(4)|central_nervous_system(1) 5 ATAAATTTGGCTAGATGATGA 0.299 NaN 1 0 1.40151e-16 0.010504 1.64796e-16 22 39 PTPRC 5788 broad.mit.edu 37 1 198713182 198713182 + Splice_Site SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:198713182G>T uc001gur.1 + 26 2872 c.2692_splice c.e26-1 p.A898_splice PTPRC_uc001gus.1_Splice_Site_p.A850_splice|PTPRC_uc001gut.1_Splice_Site_p.A737_splice NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 TGAAATTGTAGGCCCAGTACA 0.328 NaN 1 0 3.76114e-14 0.019004 4.29512e-14 32 24 CACNA1S 779 broad.mit.edu 37 1 201016656 201016656 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:201016656C>T uc001gvv.2 - 37 4767 c.4540G>A c.(4540-4542)GGA>AGA p.G1514R NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 1514 Cytoplasmic (Potential). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CACCTACCTCCTATTGGAGGG 0.547 NaN 0 0 0 0.007413 0 18 46 LMOD1 25802 broad.mit.edu 37 1 201868633 201868633 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:201868633G>A uc001gxb.2 - 2 1756 c.1508C>T c.(1507-1509)GCC>GTC p.A503V LMOD1_uc010ppu.1_Missense_Mutation_p.A452V NM_012134 NP_036266 P29536 LMOD1_HUMAN leiomodin 1 (smooth muscle) 503 muscle contraction cytoskeleton|cytosol|membrane fraction tropomyosin binding ovary(1)|pancreas(1)|skin(1) 3 CTTAGCCACGGCCCCGGCCTT 0.582 NaN 0 0 0 0.005443 0 23 30 RCOR3 55758 broad.mit.edu 37 1 211462527 211462527 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:211462527C>T uc001hig.2 + 7 723 c.554C>T c.(553-555)ACT>ATT p.T185I RCOR3_uc010psv.1_RNA|RCOR3_uc001hie.2_Missense_Mutation_p.T243I|RCOR3_uc010psw.1_Missense_Mutation_p.T243I|RCOR3_uc001hif.2_Missense_Mutation_p.T243I NM_018254 NP_060724 Q9P2K3 RCOR3_HUMAN REST corepressor 3 isoform d 185 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171) TAGGGTAATACTGAACAACCT 0.378 NaN 0 0 0 0.013114 0 47 71 LPGAT1 9926 broad.mit.edu 37 1 212002548 212002548 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:212002548C>A uc001hiu.2 - 2 904 c.91G>T c.(91-93)GTT>TTT p.V31F LPGAT1_uc001hiv.2_Missense_Mutation_p.V31F NM_014873 NP_055688 Q92604 LGAT1_HUMAN lysophosphatidylglycerol acyltransferase 1 31 Helical; (Potential). phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114) GGAATAGCAACCAGGTTGTTG 0.463 NaN 1 0 2.66069e-56 0.01441 3.77668e-56 108 141 RPS6KC1 26750 broad.mit.edu 37 1 213224846 213224846 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:213224846G>T uc010ptr.1 + 1 259 c.100G>T c.(100-102)GCC>TCC p.A34S RPS6KC1_uc001hkd.2_Missense_Mutation_p.A34S|RPS6KC1_uc010pts.1_5'UTR|RPS6KC1_uc010ptt.1_5'UTR|RPS6KC1_uc010ptu.1_5'UTR|RPS6KC1_uc010ptv.1_5'UTR|RPS6KC1_uc009xdh.2_RNA NM_012424 NP_036556 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 34 PX. cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(3)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) TAAGGTCACCGCCCGGGTGAG 0.627 NaN 1 0 0.00136819 0.013537 0.0013882 12 24 KIAA1383 54627 broad.mit.edu 37 1 232942439 232942439 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:232942439G>T uc001hvh.2 + 1 1802 c.1670G>T c.(1669-1671)AGT>ATT p.S557I NM_019090 NP_061963 Q9P2G4 K1383_HUMAN hypothetical protein LOC54627 415 ovary(1) 1 all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169) CCTGTGACAAGTCCTGCTCAT 0.413 NaN 1 0 3.62473e-10 0.012319 3.94456e-10 21 62 GNG4 2786 broad.mit.edu 37 1 235747123 235747123 + Missense_Mutation SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:235747123A>G uc001hxe.3 - 3 470 c.16T>C c.(16-18)TCT>CCT p.S6P GNG4_uc009xfz.2_Missense_Mutation_p.S6P|GNG4_uc001hxh.3_Missense_Mutation_p.S6P NM_001098722 NP_001092192 P50150 GBG4_HUMAN guanine nucleotide binding protein (G protein), 6 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|negative regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission heterotrimeric G-protein complex signal transducer activity 0 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.000882) CTGTTATTAGACATGCCCTCT 0.507 NaN 0 0 0 0.01441 0 70 156 ACTN2 88 broad.mit.edu 37 1 236925893 236925893 + Missense_Mutation SNP G G A rs148972050 TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:236925893G>A uc001hyf.2 + 21 2863 c.2659G>A c.(2659-2661)GCA>ACA p.A887T ACTN2_uc001hyg.2_Missense_Mutation_p.A679T|ACTN2_uc009xgi.1_Missense_Mutation_p.A887T|ACTN2_uc010pxu.1_Missense_Mutation_p.A576T|ACTN2_uc001hyh.2_Missense_Mutation_p.A575T NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 887 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) GTTCTCTTCCGCACTCTACGG 0.552 NaN 0 0 0 0.00308 0 8 92 RYR2 6262 broad.mit.edu 37 1 237753123 237753123 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:237753123C>A uc001hyl.1 + 30 3749 c.3629C>A c.(3628-3630)GCT>GAT p.A1210D NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1210 Cytoplasmic (By similarity).|4 X approximate repeats.|B30.2/SPRY 2. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTTGGAGTGGCTCAAGTGGGT 0.383 NaN 1 0 1.64293e-13 0.01892 1.8685e-13 23 39 FMN2 56776 broad.mit.edu 37 1 240374392 240374392 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:240374392G>C uc010pyd.1 + 6 4147 c.3922G>C c.(3922-3924)GAC>CAC p.D1308H FMN2_uc010pye.1_Missense_Mutation_p.D1312H NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1308 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TAATTTTAGAGACTCCAGTAC 0.269 NaN 0 0 0 0.013114 0 45 37 OR2C3 81472 broad.mit.edu 37 1 247695441 247695441 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:247695441C>T uc009xgy.2 - 2 735 c.373G>A c.(373-375)GCT>ACT p.A125T C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank NM_198074 NP_932340 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, 125 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) CAGATGGCAGCGTAGCGGTCA 0.562 NaN 0 0 0 0.004656 0 25 63 ACBD7 414149 broad.mit.edu 37 10 15120593 15120593 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:15120593G>A uc001inv.2 - 4 251 c.203C>T c.(202-204)ACG>ATG p.T68M ACBD7_uc010qby.1_Intron NM_001039844 NP_001034933 Q8N6N7 ACBD7_HUMAN acyl-Coenzyme A binding domain containing 7 68 ACB. fatty-acyl-CoA binding 0 CGCATCTTCCGTCGACAACCC 0.363 NaN 0 0 0 0.004007 0 14 48 CUBN 8029 broad.mit.edu 37 10 16883004 16883004 + Missense_Mutation SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:16883004A>G uc001ioo.2 - 61 9758 c.9706T>C c.(9706-9708)TTT>CTT p.F3236L NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 3236 CUB 24. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GAACCACAAAACGTTCCAGCC 0.368 NaN 0 0 0 0.007413 0 20 21 VIM 7431 broad.mit.edu 37 10 17277194 17277194 + Silent SNP T T C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:17277194T>C uc001iou.2 + 7 1448 c.1035T>C c.(1033-1035)CGT>CGC p.R345R VIM_uc001iov.1_Silent_p.R345R|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Silent_p.R345R|VIM_uc001ioy.1_Intron|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Silent_p.R303R|VIM_uc001ipc.1_Silent_p.R345R NM_003380 NP_003371 P08670 VIME_HUMAN vimentin 345 Rod.|Coil 2. cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 GCCAGATGCGTGAAATGGAAG 0.483 NaN 0 0 0 0.006122 0 17 43 KIAA1217 56243 broad.mit.edu 37 10 24669846 24669846 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:24669846G>C uc001iru.3 + 3 806 c.403G>C c.(403-405)GAC>CAC p.D135H KIAA1217_uc001irs.2_Missense_Mutation_p.D55H|KIAA1217_uc001irt.3_Missense_Mutation_p.D135H|KIAA1217_uc010qcy.1_Missense_Mutation_p.D135H|KIAA1217_uc010qcz.1_Missense_Mutation_p.D135H|KIAA1217_uc001irv.1_5'UTR|KIAA1217_uc010qda.1_RNA NM_019590 NP_062536 Q5T5P2 SKT_HUMAN sickle tail isoform 1 135 embryonic skeletal system development cytoplasm ovary(5)|skin(2) 7 CAGTCTGGGTGACCCGGTCGA 0.502 NaN 0 0 0 0.016723 0 13 46 ARHGAP21 57584 broad.mit.edu 37 10 24910248 24910248 + Missense_Mutation SNP A A C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:24910248A>C uc001isb.2 - 9 1063 c.576T>G c.(574-576)AAT>AAG p.N192K ARHGAP21_uc010qdb.1_RNA|ARHGAP21_uc009xkl.1_Missense_Mutation_p.N192K|ARHGAP21_uc010qdc.1_Missense_Mutation_p.N27K|ARHGAP21_uc001isc.1_Missense_Mutation_p.N182K NM_020824 NP_065875 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 191 signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding ovary(7)|pancreas(1) 8 TATTGCGGGCATTGCCGCTAT 0.463 NaN 0 0 0 0.001168 0 6 7 SVIL 6840 broad.mit.edu 37 10 29760165 29760165 + Missense_Mutation SNP A A T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:29760165A>T uc001iut.1 - 31 6290 c.5537T>A c.(5536-5538)GTT>GAT p.V1846D LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.V760D|SVIL_uc001iuu.1_Missense_Mutation_p.V1420D NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 1846 Gelsolin-like 3. cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) TCCCTGGAGAACCTGGACCTT 0.498 NaN 0 0 0 0.013537 0 12 10 ZNF485 220992 broad.mit.edu 37 10 44111919 44111919 + Missense_Mutation SNP C C T rs138982373 TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:44111919C>T uc010qfc.1 + 5 622 c.428C>T c.(427-429)TCG>TTG p.S143L ZNF485_uc010qfd.1_Missense_Mutation_p.S52L NM_145312 NP_660355 Q8NCK3 ZN485_HUMAN zinc finger protein 485 143 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AAATACAATTCGTCCTTTATT 0.413 NaN 0 0 0 0.00499 0 15 53 NRBF2 29982 broad.mit.edu 37 10 64913495 64913495 + Silent SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:64913495G>T uc001jmj.3 + 4 605 c.381G>T c.(379-381)CTG>CTT p.L127L NRBF2_uc010qip.1_Silent_p.L117L NM_030759 NP_110386 Q96F24 NRBF2_HUMAN nuclear receptor binding factor 2 127 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent cytoplasm|nucleoplasm protein binding 0 Prostate(12;0.0119)|all_hematologic(501;0.191) AGAAATGCCTGCCTGAGATTC 0.507 NaN 1 0 1.61879e-10 0.013537 1.76509e-10 12 25 NODAL 4838 broad.mit.edu 37 10 72195635 72195635 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:72195635G>C uc001jrc.2 - 2 340 c.298C>G c.(298-300)CCT>GCT p.P100A NM_018055 NP_060525 Q96S42 NODAL_HUMAN nodal precursor 100 growth extracellular space cytokine activity|growth factor activity large_intestine(1)|kidney(1) 2 AGGTCCACAGGGCTGGACAGC 0.572 NaN 0 0 0 0.010504 0 19 52 KIAA1274 27143 broad.mit.edu 37 10 72293777 72293777 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:72293777G>T uc001jrd.3 + 8 1251 c.970G>T c.(970-972)GTC>TTC p.V324F NM_014431 NP_055246 Q9ULE6 PALD_HUMAN KIAA1274 324 ovary(2)|central_nervous_system(1) 3 CCTGGGCATGGTCCTGGGCAC 0.701 NaN 1 0 6.72482e-11 0.003163 7.37604e-11 15 12 SEC24C 9632 broad.mit.edu 37 10 75523669 75523669 + Silent SNP T T A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:75523669T>A uc001juw.2 + 9 1334 c.1155T>A c.(1153-1155)TCT>TCA p.S385S SEC24C_uc010qkn.1_Intron|SEC24C_uc009xrj.1_Silent_p.S243S|SEC24C_uc001jux.2_Silent_p.S385S|SEC24C_uc010qko.1_Silent_p.S266S|SEC24C_uc010qkp.1_Intron|SEC24C_uc010qkq.1_Intron NM_004922 NP_004913 P53992 SC24C_HUMAN SEC24-related protein C 385 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding skin(2)|central_nervous_system(1) 3 Prostate(51;0.0112) CTTGCACATCTGACATGGCTA 0.542 NaN 0 0 0 0.00499 0 17 9 DUSP13 51207 broad.mit.edu 37 10 76867962 76867962 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:76867962G>A uc001jws.2 - 2 210 c.155C>T c.(154-156)ACG>ATG p.T52M DUSP13_uc001jwu.2_Intron|DUSP13_uc001jww.2_Intron|DUSP13_uc009xrs.2_Translation_Start_Site|DUSP13_uc001jwt.2_Translation_Start_Site|DUSP13_uc001jwv.2_Intron NM_001007271 NP_001007272 Q6B8I1 MDSP_HUMAN muscle-restricted dual specificity phosphatase 52 Tyrosine-protein phosphatase. cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) GTTGTTTGCCGTGGCCCTGGG 0.662 NaN 0 0 0 0.021523 0 21 39 DLG5 9231 broad.mit.edu 37 10 79571722 79571722 + Missense_Mutation SNP T T A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:79571722T>A uc001jzk.2 - 22 4352 c.4282A>T c.(4282-4284)AAC>TAC p.N1428Y DLG5_uc001jzi.2_Missense_Mutation_p.N183Y|DLG5_uc001jzj.2_Missense_Mutation_p.N843Y|DLG5_uc009xru.1_RNA NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN discs large homolog 5 1428 PDZ 3. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity ovary(5)|breast(3) 8 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) ACGTGGGGGTTGTACTGGGCC 0.667 NaN 0 0 0 0.013726 0 31 19 PAPSS2 9060 broad.mit.edu 37 10 89472929 89472929 + Silent SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:89472929C>G uc001kex.2 + 3 506 c.243C>G c.(241-243)GTC>GTG p.V81V PAPSS2_uc001kew.2_Silent_p.V81V|PAPSS2_uc009xtg.1_RNA NM_004670 NP_004661 O95340 PAPS2_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 2 81 Adenylyl-sulfate kinase. 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity central_nervous_system(1)|skin(1) 2 Melanoma(5;0.019)|Colorectal(252;0.123) UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124) GGGACAATGTCCGTCATGGCC 0.517 NaN 0 0 0 0.01441 0 77 51 SORBS1 10580 broad.mit.edu 37 10 97096652 97096652 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:97096652G>T uc001kkp.2 - 28 3310 c.3265C>A c.(3265-3267)CAA>AAA p.Q1089K SORBS1_uc001kkk.2_Intron|SORBS1_uc001kkl.2_Intron|SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Intron|SORBS1_uc001kko.2_Intron|SORBS1_uc001kkq.2_Intron|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_Intron|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Intron|SORBS1_uc001kkw.2_Missense_Mutation_p.Q1043K|SORBS1_uc010qoe.1_Intron NM_001034954 NP_001030126 Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 isoform 3 1089 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity breast(1) 1 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) AAGCTATCTTGGTGGATGCCT 0.562 NaN 1 0 2.00842e-17 0.010771 2.392e-17 39 19 SLIT1 6585 broad.mit.edu 37 10 98807755 98807755 + Splice_Site SNP T T C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:98807755T>C uc001kmw.2 - 15 1718 c.1466_splice c.e15-1 p.A489_splice SLIT1_uc009xvh.1_Splice_Site_p.A499_splice NM_003061 NP_003052 O75093 SLIT1_HUMAN slit homolog 1 precursor axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding ovary(4) 4 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) GCTCTTTGGCTGGGAAGAGAA 0.597 NaN 0 0 0 0.010771 0 42 119 HPS1 3257 broad.mit.edu 37 10 100185614 100185614 + Silent SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:100185614C>T uc010qpf.1 - 12 1362 c.1116G>A c.(1114-1116)CTG>CTA p.L372L HPS1_uc001kpi.1_Silent_p.L372L|HPS1_uc001kpj.1_Silent_p.L279L|HPS1_uc001kpk.1_Intron|HPS1_uc010qpg.1_Silent_p.L4L|HPS1_uc009xwb.2_RNA NM_000195 NP_000186 Q92902 HPS1_HUMAN Hermansky-Pudlak syndrome 1 protein isoform a 372 lysosome organization|response to stimulus|visual perception cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction protein dimerization activity skin(1) 1 Colorectal(252;0.234) Epithelial(162;3.87e-12)|all cancers(201;5.63e-10) GCCACAGGGGCAGGCAGTACA 0.627 NaN Hermansky-Pudlak_syndrome OREG0020430 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.016522 0 22 85 SH3PXD2A 9644 broad.mit.edu 37 10 105495534 105495534 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:105495534C>A uc001kxj.1 - 4 402 c.262G>T c.(262-264)GAC>TAC p.D88Y SH3PXD2A_uc010qqu.1_Missense_Mutation_p.D18Y NM_014631 NP_055446 Q5TCZ1 SPD2A_HUMAN SH3 multiple domains 1 88 PX. cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding 0 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) ACAGCTACGTCCCGGATGTGG 0.572 NaN 1 0 4.37601e-64 0.01441 6.2595e-64 107 63 DCLRE1A 9937 broad.mit.edu 37 10 115596934 115596934 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:115596934C>G uc001law.2 - 8 3767 c.2849G>C c.(2848-2850)GGT>GCT p.G950A NM_014881 NP_055696 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 950 cell division|mitosis nucleus hydrolase activity skin(2) 2 Epithelial(162;0.0157)|all cancers(201;0.0171) GTATTTCCCACCACACTTCTT 0.373 NaN Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 0 0 0 0.01441 0 43 43 ATRNL1 26033 broad.mit.edu 37 10 116975551 116975551 + Missense_Mutation SNP A A T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:116975551A>T uc001lcg.2 + 9 1831 c.1445A>T c.(1444-1446)TAT>TTT p.Y482F NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 482 Kelch 4.|Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) AAGTCCATTTATGTTCATGGA 0.363 NaN 0 0 0 0.001984 0 7 27 PNLIPRP3 119548 broad.mit.edu 37 10 118228771 118228771 + Silent SNP T T C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:118228771T>C uc001lcl.3 + 9 1103 c.1002T>C c.(1000-1002)AAT>AAC p.N334N NM_001011709 NP_001011709 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 precursor 334 lipid catabolic process extracellular region triglyceride lipase activity ovary(1) 1 all cancers(201;0.0131) ACTTCAAAAATATGAAGACTA 0.353 NaN 0 0 0 0.008361 0 29 16 C10orf84 63877 broad.mit.edu 37 10 120095128 120095128 + Missense_Mutation SNP T T C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:120095128T>C uc001ldo.2 - 4 527 c.260A>G c.(259-261)CAT>CGT p.H87R C10orf84_uc010qss.1_Missense_Mutation_p.H87R NM_022063 NP_071346 Q9H8W3 F204A_HUMAN hypothetical protein LOC63877 87 0 Colorectal(252;0.101) all cancers(201;0.0244) CTGTTCAGAATGTTTTTTATG 0.303 NaN 0 0 0 0.001984 0 5 36 FAM175B 23172 broad.mit.edu 37 10 126519948 126519948 + Nonsense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:126519948C>T uc001lib.3 + 8 739 c.694C>T c.(694-696)CGA>TGA p.R232* NM_032182 NP_115558 Q15018 F175B_HUMAN hypothetical protein LOC23172 232 Potential. BRISC complex polyubiquitin binding 0 AAAGAGTGAGCGAGTTGTTGA 0.378 NaN 0 0 0 0.001168 0 6 44 CTBP2 1488 broad.mit.edu 37 10 126683152 126683152 + Silent SNP G G A rs78653489 TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:126683152G>A uc009yak.2 - 7 953 c.666C>T c.(664-666)GGC>GGT p.G222G CTBP2_uc009yal.2_Silent_p.G222G|CTBP2_uc001lif.3_Silent_p.G222G|CTBP2_uc001lih.3_Silent_p.G222G|CTBP2_uc001lid.3_Silent_p.G290G|CTBP2_uc001lie.3_Silent_p.G762G NM_001329 NP_001320 P56545 CTBP2_HUMAN C-terminal binding protein 2 isoform 1 222 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding 0 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) CCCTCTGCACGCCCAGGGACC 0.552 NaN 0 0 0 0.020292 0 14 94 MKI67 4288 broad.mit.edu 37 10 129906934 129906934 + Missense_Mutation SNP T T G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:129906934T>G uc001lke.2 - 13 3365 c.3170A>C c.(3169-3171)GAG>GCG p.E1057A MKI67_uc001lkf.2_Missense_Mutation_p.E697A|MKI67_uc009yav.1_Missense_Mutation_p.E632A|MKI67_uc009yaw.1_Missense_Mutation_p.E207A NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 1057 16 X 122 AA approximate repeats.|1. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TCCTGCTGGCTCTCTGTGCGT 0.547 NaN 0 0 0 0.01441 0 172 115 VENTX 27287 broad.mit.edu 37 10 135053570 135053570 + Silent SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:135053570C>T uc010quy.1 + 3 548 c.537C>T c.(535-537)GGC>GGT p.G179G NM_014468 NP_055283 O95231 VENTX_HUMAN VENT homeobox 179 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05) TTGCCAATGGCCTGCAGCTGC 0.647 NaN 0 0 0 0.01892 0 22 53 LRDD 55367 broad.mit.edu 37 11 800619 800619 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:800619C>A uc001lro.1 - 12 2107 c.1965G>T c.(1963-1965)GAG>GAT p.E655D SLC25A22_uc009yci.2_5'Flank|SLC25A22_uc001lrj.2_5'Flank|LRDD_uc009yck.1_RNA|LRDD_uc001lrk.1_Missense_Mutation_p.E655D|LRDD_uc001lrl.1_Missense_Mutation_p.E498D|LRDD_uc001lrm.1_Missense_Mutation_p.E342D|LRDD_uc001lrn.1_Missense_Mutation_p.E498D|LRDD_uc001lrp.1_Missense_Mutation_p.E317D NM_145886 NP_665893 Q9HB75 PIDD_HUMAN leucine rich repeat and death domain containing 655 apoptosis|signal transduction cytoplasm|nucleus death receptor binding 0 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGTCAGAGGGCTCGGGGCCCC 0.677 NaN 1 0 4.75885e-15 0.00499 5.49098e-15 17 1 MUC6 4588 broad.mit.edu 37 11 1018244 1018244 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:1018244G>C uc001lsw.2 - 31 4608 c.4557C>G c.(4555-4557)AAC>AAG p.N1519K NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 1519 Pro-rich.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TAGGTGTTTTGTTTGTGCTGA 0.547 NaN 0 0 0 0.01441 0 121 11 OR52N4 390072 broad.mit.edu 37 11 5775984 5775984 + Missense_Mutation SNP A A C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:5775984A>C uc001mbu.2 + 1 62 c.14A>C c.(13-15)AAT>ACT p.N5T TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001005175 NP_001005175 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, 5 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) CTAACACTGAATAAAACAGAC 0.358 NaN 0 0 0 0.00632 0 29 1 OR56A1 120796 broad.mit.edu 37 11 6048854 6048854 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:6048854G>T uc010qzw.1 - 1 81 c.81C>A c.(79-81)TTC>TTA p.F27L NM_001001917 NP_001001917 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, 27 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1) 3 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) GCCAACTCTGGAAGTTGGGGA 0.572 NaN 1 0 7.75977e-34 0.01441 1.04026e-33 64 5 OR10A6 390093 broad.mit.edu 37 11 7949365 7949365 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:7949365G>T uc010rbh.1 - 1 845 c.845C>A c.(844-846)ACA>AAA p.T282K NM_001004461 NP_001004461 Q8NH74 O10A6_HUMAN olfactory receptor, family 10, subfamily A, 282 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CAGCAGTGGTGTCAGAAGTGA 0.423 NaN 1 0 4.25531e-23 0.01441 5.30719e-23 49 8 ZNF143 7702 broad.mit.edu 37 11 9522678 9522678 + Silent SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:9522678G>T uc001mhr.2 + 11 1126 c.1008G>T c.(1006-1008)CGG>CGT p.R336R ZNF143_uc009yfu.2_Silent_p.R335R|ZNF143_uc010rby.1_Silent_p.R305R NM_003442 NP_003433 P52747 ZN143_HUMAN zinc finger protein 143 336 C2H2-type 4. regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm DNA binding|zinc ion binding 0 all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212) GCTGCGGTCGGTCCTTTACAA 0.423 NaN 1 0 8.27458e-37 0.01441 1.12283e-36 71 10 C11orf58 10944 broad.mit.edu 37 11 16776487 16776487 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:16776487C>A uc001mmk.2 + 5 566 c.388C>A c.(388-390)CCT>ACT p.P130T C11orf58_uc010rct.1_Missense_Mutation_p.P86T NM_014267 NP_055082 O00193 SMAP_HUMAN small acidic protein isoform a 130 Asp-rich. 0 tTCACCTGATCCTGAAAGTCC 0.393 NaN 1 0 1.2476e-16 0.00632 1.4701e-16 29 3 OR8K5 219453 broad.mit.edu 37 11 55927213 55927213 + Missense_Mutation SNP T T G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:55927213T>G uc010rja.1 - 1 581 c.581A>C c.(580-582)GAA>GCA p.E194A NM_001004058 NP_001004058 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, 194 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) CAATTCTATTTCCTGTGCATT 0.333 NaN 0 0 0 0.001984 0 7 61 OR5T1 390155 broad.mit.edu 37 11 56043760 56043760 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:56043760G>T uc001nio.1 + 1 646 c.646G>T c.(646-648)GGC>TGC p.G216C NM_001004745 NP_001004745 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, 216 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1) 3 Esophageal squamous(21;0.00448) CTACTTTGTGGGCTCTATTGA 0.408 NaN 1 0 1.14856e-27 0.01441 1.48245e-27 76 113 FAM111B 374393 broad.mit.edu 37 11 58893494 58893494 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:58893494G>C uc001nnl.2 + 4 2167 c.1924G>C c.(1924-1926)GAT>CAT p.D642H FAM111B_uc001nnm.2_Missense_Mutation_p.D612H|FAM111B_uc010rko.1_Missense_Mutation_p.D612H NM_198947 NP_945185 Q6SJ93 F111B_HUMAN hypothetical protein LOC374393 isoform a 642 catalytic activity ovary(2) 2 GCTTAGTTATGATACTTGTTT 0.413 NaN 0 0 0 0.006999 0 35 41 ZP1 22917 broad.mit.edu 37 11 60635046 60635046 + Silent SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:60635046C>G uc001nqd.2 + 1 32 c.12C>G c.(10-12)GGC>GGG p.G4G ZP1_uc001nqe.2_5'Flank NM_207341 NP_997224 P60852 ZP1_HUMAN zona pellucida glycoprotein 1 precursor 4 single fertilization integral to membrane|plasma membrane|proteinaceous extracellular matrix 0 TGGCAGGAGGCTCAGCCACGA 0.667 NaN 0 0 0 0.015359 0 32 31 MTA2 9219 broad.mit.edu 37 11 62363785 62363785 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:62363785C>G uc001ntq.1 - 11 1363 c.982G>C c.(982-984)GAC>CAC p.D328H MTA2_uc010rlx.1_Missense_Mutation_p.D155H NM_004739 NP_004730 O94776 MTA2_HUMAN metastasis-associated protein 2 328 chromatin assembly or disassembly NuRD complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 AGTTTGCTGTCTGCTTCAGCA 0.468 NaN 0 0 0 0.01892 0 21 23 SIPA1 6494 broad.mit.edu 37 11 65417137 65417137 + Silent SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:65417137G>C uc001ofb.2 + 11 2798 c.2631G>C c.(2629-2631)CTG>CTC p.L877L SIPA1_uc010rom.1_Silent_p.L775L|SIPA1_uc001ofd.2_Silent_p.L877L NM_006747 NP_006738 Q96FS4 SIPA1_HUMAN signal-induced proliferation-associated protein 877 cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth cytosol|endomembrane system|membrane|perinuclear region of cytoplasm Rap GTPase activator activity 0 AGACACCCCTGACCCAGGTGA 0.607 NaN 0 0 0 0.01441 0 68 65 PAAF1 80227 broad.mit.edu 37 11 73625498 73625498 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:73625498G>C uc001ouk.1 + 8 802 c.768G>C c.(766-768)TTG>TTC p.L256F PAAF1_uc001oul.1_Missense_Mutation_p.L239F|PAAF1_uc009ytx.1_RNA|PAAF1_uc001oum.1_Missense_Mutation_p.L239F NM_025155 NP_079431 Q9BRP4 PAAF1_HUMAN proteasomal ATPase-associated factor 1 256 interspecies interaction between organisms proteasome complex protein binding ovary(1)|skin(1) 2 Breast(11;7.42e-05) TGCTGCTCTTGGCCCGGGAAG 0.498 NaN 0 0 0 0.013726 0 28 46 C11orf30 56946 broad.mit.edu 37 11 76255837 76255837 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:76255837G>A uc001oxl.2 + 19 3387 c.3244G>A c.(3244-3246)GCT>ACT p.A1082T C11orf30_uc001oxm.2_Missense_Mutation_p.A984T|C11orf30_uc010rsb.1_Missense_Mutation_p.A1097T|C11orf30_uc010rsc.1_Missense_Mutation_p.A1083T|C11orf30_uc001oxn.2_Missense_Mutation_p.A1083T|C11orf30_uc010rsd.1_Missense_Mutation_p.A991T|C11orf30_uc001oxo.1_Missense_Mutation_p.A436T|C11orf30_uc010rse.1_Missense_Mutation_p.A329T|C11orf30_uc001oxp.2_Missense_Mutation_p.A182T NM_020193 NP_064578 Q7Z589 EMSY_HUMAN EMSY protein 1082 Gln-rich. chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 GTCGCTCCCAGCTTCTTCAGA 0.478 NaN 0 0 0 0.01441 0 49 55 MTNR1B 4544 broad.mit.edu 37 11 92715238 92715238 + Silent SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:92715238C>G uc001pdk.1 + 2 952 c.849C>G c.(847-849)CCC>CCG p.P283P NM_005959 NP_005950 P49286 MTR1B_HUMAN melatonin receptor 1B 283 Extracellular (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) AAATGGCTCCCCAGATCCCTG 0.498 NaN 0 0 0 0.01441 0 116 172 MAML2 84441 broad.mit.edu 37 11 95712374 95712374 + Missense_Mutation SNP T T C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:95712374T>C uc001pfw.1 - 5 4494 c.3209A>G c.(3208-3210)AAT>AGT p.N1070S NM_032427 NP_115803 Q8IZL2 MAML2_HUMAN mastermind-like 2 1070 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) CCTCGACTGATTCAACCCTGT 0.512 NaN T MECT1|CRTC3 salivary gland mucoepidermoid 0 0 0 0.007291 0 27 29 MMP20 9313 broad.mit.edu 37 11 102477386 102477386 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:102477386C>T uc001phc.2 - 6 846 c.833G>A c.(832-834)GGG>GAG p.G278E NM_004771 NP_004762 O60882 MMP20_HUMAN matrix metalloproteinase 20 preproprotein 278 proteolysis|regulation of enamel mineralization extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding urinary_tract(1)|skin(1) 2 all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13) BRCA - Breast invasive adenocarcinoma(274;0.0161) AGTGGGCTTCCCCAGGAATAC 0.537 NaN 0 0 0 0.012213 0 6 50 MMP10 4319 broad.mit.edu 37 11 102647046 102647046 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:102647046G>T uc001phg.1 - 6 919 c.897C>A c.(895-897)AGC>AGA p.S299R NM_002425 NP_002416 P09238 MMP10_HUMAN matrix metalloproteinase 10 preproprotein 299 Hemopexin-like 1. collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding kidney(1)|lung(1)|breast(1)|central_nervous_system(1) 4 all_epithelial(12;0.00961) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0145) CCCTCAGAGTGCTGATGGCAT 0.438 NaN 1 0 2.47316e-13 0.015359 2.80123e-13 30 51 KIAA1826 84437 broad.mit.edu 37 11 105880543 105880543 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:105880543C>G uc001piy.2 - 3 930 c.757G>C c.(757-759)GAG>CAG p.E253Q KIAA1826_uc001piz.2_Missense_Mutation_p.E253Q NM_032424 NP_115800 Q8NCY6 K1826_HUMAN hypothetical protein LOC84437 253 Potential. nucleus breast(1) 1 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309) CGCTCCTTCTCTAGCTGAAGC 0.463 NaN 0 0 0 0.01441 0 63 67 ATM 472 broad.mit.edu 37 11 108206598 108206598 + Silent SNP T T A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:108206598T>A uc001pkb.1 + 56 8563 c.8178T>A c.(8176-8178)GCT>GCA p.A2726A ATM_uc009yxr.1_Silent_p.A2726A|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Silent_p.A1378A NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 2726 PI3K/PI4K. A -> V (in AT). cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GACAAGATGCTGTCATGCAAC 0.348 NaN D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 0 0 0 0.010504 0 20 21 APOA4 337 broad.mit.edu 37 11 116692251 116692251 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:116692251G>C uc001pps.1 - 3 627 c.523C>G c.(523-525)CTG>GTG p.L175V NM_000482 NP_000473 apolipoprotein A-IV precursor 0 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) GAGGCCTGCAGGCTGTCGGCG 0.672 NaN 0 0 0 0.01441 0 119 122 DSCAML1 57453 broad.mit.edu 37 11 117301499 117301499 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:117301499C>A uc001prh.1 - 32 5807 c.5805G>T c.(5803-5805)AAG>AAT p.K1935N NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1875 Cytoplasmic (Potential). axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CATCCTGGGGCTTGGGTGGTG 0.637 NaN 1 0 1.59228e-47 0.01441 2.20929e-47 93 126 ROBO3 64221 broad.mit.edu 37 11 124738754 124738754 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:124738754C>A uc001qbc.2 + 2 409 c.217C>A c.(217-219)CTG>ATG p.L73M NM_022370 NP_071765 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 73 Ig-like C2-type 1.|Extracellular (Potential). axon midline choice point recognition integral to membrane receptor activity breast(1)|central_nervous_system(1) 2 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) GCCGCCAGATCTGCTGGTCTC 0.667 NaN 1 0 2.17888e-05 0.006214 2.23526e-05 9 19 PKNOX2 63876 broad.mit.edu 37 11 125221258 125221258 + Silent SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:125221258C>A uc001qbu.2 + 4 371 c.57C>A c.(55-57)GTC>GTA p.V19V PKNOX2_uc010saz.1_Intron|PKNOX2_uc010sba.1_Intron|PKNOX2_uc010sbb.1_Missense_Mutation_p.S2Y NM_022062 NP_071345 Q96KN3 PKNX2_HUMAN PBX/knotted 1 homeobox 2 19 nucleus sequence-specific DNA binding transcription factor activity ovary(3) 3 Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117) CGCAGAATGTCCCGCCCCCAC 0.657 NaN 1 0 1.08611e-07 0.010729 1.14381e-07 11 14 PUS3 83480 broad.mit.edu 37 11 125765537 125765537 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:125765537C>A uc001qcy.2 - 3 624 c.526G>T c.(526-528)GCC>TCC p.A176S HYLS1_uc009zbv.2_Intron|HYLS1_uc001qcx.3_Intron NM_031307 NP_112597 Q9BZE2 PUS3_HUMAN pseudouridylate synthase 3 176 nucleus RNA binding ovary(1) 1 all_hematologic(175;0.177) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043) GGGGCCCAGGCCAATATACGG 0.478 NaN 1 0 2.26627e-22 0.007835 2.82014e-22 44 37 LRTM2 654429 broad.mit.edu 37 12 1940231 1940231 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:1940231G>A uc001qjt.2 + 4 1004 c.198G>A c.(196-198)GTG>GTA p.V66V CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Silent_p.V66V|LRTM2_uc010sdx.1_Silent_p.V66V|LRTM2_uc001qjv.2_Intron NM_001039029 NP_001034118 Q8N967 LRTM2_HUMAN leucine-rich repeats and transmembrane domains 2 66 LRRNT.|Extracellular (Potential). integral to membrane large_intestine(1) 1 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000834) CCCCAGACGTGCCCGCAGCCA 0.642 NaN 0 0 0 0.01441 0 94 79 TAS2R9 50835 broad.mit.edu 37 12 10962143 10962143 + Missense_Mutation SNP A A T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:10962143A>T uc001qyx.2 - 1 625 c.532T>A c.(532-534)TTC>ATC p.F178I TAS2R8_uc010shh.1_5'Flank NM_023917 NP_076406 Q9NYW1 TA2R9_HUMAN taste receptor, type 2, member 9 178 Extracellular (Potential). sensory perception of taste integral to membrane taste receptor activity skin(1) 1 AACTGTTTGAAAGTACCTGGA 0.378 NaN 0 0 0 0.00632 0 26 54 SLCO1B3 28234 broad.mit.edu 37 12 21007999 21007999 + Missense_Mutation SNP A A T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:21007999A>T uc001rek.2 + 3 248 c.122A>T c.(121-123)AAA>ATA p.K41I SLCO1B3_uc001rel.2_Missense_Mutation_p.K41I|SLCO1B3_uc010sil.1_Missense_Mutation_p.K41I|LST-3TM12_uc010sim.1_Missense_Mutation_p.K41I NM_019844 NP_062818 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, 41 Helical; Name=1; (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) TATATTGCTAAAGCACTAGGT 0.318 NaN 0 0 0 0.004007 0 15 20 CAPRIN2 65981 broad.mit.edu 37 12 30863342 30863342 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:30863342C>A uc001rji.1 - 18 3629 c.2878G>T c.(2878-2880)GGT>TGT p.G960C CAPRIN2_uc001rjf.1_3'UTR|CAPRIN2_uc001rjg.1_Missense_Mutation_p.G627C|CAPRIN2_uc001rjh.1_Missense_Mutation_p.G910C|CAPRIN2_uc001rjj.1_Missense_Mutation_p.G626C|CAPRIN2_uc001rjk.3_3'UTR|CAPRIN2_uc001rjl.3_3'UTR NM_001002259 NP_001002259 Q6IMN6 CAPR2_HUMAN C1q domain containing 1 isoform 1 960 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding ovary(1)|central_nervous_system(1) 2 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) CCAGAGTCACCACTGTTAAAG 0.502 NaN 1 0 7.93641e-56 0.01441 1.12365e-55 153 149 CPNE8 144402 broad.mit.edu 37 12 39071345 39071345 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:39071345G>A uc001rls.1 - 17 1367 c.1283C>T c.(1282-1284)TCT>TTT p.S428F CPNE8_uc001rlr.1_Missense_Mutation_p.S87F NM_153634 NP_705898 Q86YQ8 CPNE8_HUMAN copine VIII 428 VWFA. pancreas(1) 1 Esophageal squamous(101;0.187) Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157) ATCCTTTACAGAAGAAGCATA 0.363 NaN 0 0 0 0.020292 0 15 29 TMBIM6 7009 broad.mit.edu 37 12 50152022 50152022 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:50152022G>A uc001rux.2 + 5 431 c.299G>A c.(298-300)GGC>GAC p.G100D TMBIM6_uc010sml.1_Missense_Mutation_p.G100D|TMBIM6_uc001ruy.2_Missense_Mutation_p.G158D|TMBIM6_uc001ruz.2_Missense_Mutation_p.G100D NM_003217 NP_003208 P55061 BI1_HUMAN testis enhanced gene transcript (BAX inhibitor 100 Helical; (Potential). apoptosis|negative regulation of apoptosis endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus 0 GTTGGCCTGGGCCCTGCCCTG 0.408 NaN 0 0 0 0.01441 0 66 94 KRT83 3889 broad.mit.edu 37 12 52709714 52709714 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:52709714C>A uc001saf.2 - 7 1288 c.1225G>T c.(1225-1227)GCC>TCC p.A409S NM_002282 NP_002273 P78385 KRT83_HUMAN keratin 83 409 Rod.|Coil 2. epidermis development keratin filament structural molecule activity skin(1) 1 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) CTGTAGGTGGCGATCTCGATA 0.597 NaN 1 0 1.98135e-44 0.01441 2.72866e-44 62 68 KRT2 3849 broad.mit.edu 37 12 53039197 53039197 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:53039197G>A uc001sat.2 - 9 1559 c.1526C>T c.(1525-1527)TCA>TTA p.S509L NM_000423 NP_000414 P35908 K22E_HUMAN keratin 2 509 Tail. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.19) CACATTTGATGAAATGGTGCT 0.537 NaN 0 0 0 0.01441 0 68 68 ITGA5 3678 broad.mit.edu 37 12 54799117 54799117 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:54799117C>T uc001sga.2 - 12 1126 c.1058G>A c.(1057-1059)CGG>CAG p.R353Q ITGA5_uc010sow.1_RNA|ITGA5_uc009znp.1_RNA NM_002205 NP_002196 P08648 ITA5_HUMAN integrin alpha 5 precursor 353 Extracellular (Potential).|FG-GAP 5. angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding ovary(2) 2 GTCAGGGGTCCGATCCATGAG 0.652 NaN 0 0 0 0.00632 0 25 12 NCKAP1L 3071 broad.mit.edu 37 12 54911366 54911366 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:54911366G>T uc001sgc.3 + 12 1224 c.1145G>T c.(1144-1146)TGG>TTG p.W382L NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Missense_Mutation_p.W332L NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 382 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity ovary(3)|central_nervous_system(1) 4 GAGGTCACCTGGCTGGTTCGC 0.448 NaN 1 0 3.86236e-30 0.01441 5.11602e-30 42 43 KIAA0748 9840 broad.mit.edu 37 12 55357674 55357674 + Silent SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:55357674G>T uc001sgn.3 - 8 617 c.507C>A c.(505-507)GGC>GGA p.G169G KIAA0748_uc001sgl.3_Silent_p.G31G|KIAA0748_uc001sgm.3_5'UTR|KIAA0748_uc010spb.1_5'UTR|KIAA0748_uc010spc.1_Silent_p.G31G|KIAA0748_uc010spd.1_Silent_p.G169G|KIAA0748_uc001sgo.3_Intron NM_001098815 NP_001092285 A2RU30 K0748_HUMAN hypothetical protein LOC9840 169 ovary(1)|central_nervous_system(1) 2 CTTGGCCAAAGCCCAGACTGA 0.478 NaN 1 0 7.07328e-35 0.01441 9.50526e-35 68 64 SILV 6490 broad.mit.edu 37 12 56349451 56349451 + Missense_Mutation SNP A A C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:56349451A>C uc001sip.2 - 9 1590 c.1559T>G c.(1558-1560)CTG>CGG p.L520R SILV_uc001siq.2_Missense_Mutation_p.L520R|SILV_uc010spx.1_Missense_Mutation_p.L434R|SILV_uc001sir.2_Missense_Mutation_p.L520R NM_006928 NP_008859 P40967 PMEL_HUMAN silver homolog 520 Lumenal (Potential). melanin biosynthetic process|melanosome organization endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane protein binding 0 TTCCTTGGGCAGCCTGGAAGA 0.577 NaN 0 0 0 0.012213 0 30 42 IL23A 51561 broad.mit.edu 37 12 56733306 56733306 + Nonsense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:56733306C>T uc001sla.2 + 2 425 c.259C>T c.(259-261)CAG>TAG p.Q87* NM_016584 NP_057668 Q9NPF7 IL23A_HUMAN interleukin 23, alpha subunit p19 precursor 87 defense response to Gram-negative bacterium|inflammatory response|innate immune response|negative regulation of interleukin-10 production|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to virus|tissue remodeling interleukin-23 complex cytokine activity 0 GGACAACAGTCAGGTACCACT 0.493 NaN 0 0 0 0.004656 0 25 28 PIP4K2C 79837 broad.mit.edu 37 12 57989742 57989742 + Silent SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:57989742G>C uc001sou.2 + 4 572 c.441G>C c.(439-441)CGG>CGC p.R147R PIP4K2C_uc001sot.2_Silent_p.R147R|PIP4K2C_uc010srs.1_Silent_p.R129R|PIP4K2C_uc010srt.1_Intron NM_001146258 NP_001139730 Q8TBX8 PI42C_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type 147 PIPK. cytoplasm|membrane 1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding central_nervous_system(2)|lung(1) 3 Melanoma(17;0.122) CCTACGATCGGACTCTGGTCA 0.522 NaN 0 0 0 0.01441 0 52 85 BEST3 144453 broad.mit.edu 37 12 70070774 70070774 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:70070774G>A uc001svg.2 - 7 1016 c.789C>T c.(787-789)GGC>GGT p.G263G BEST3_uc001svd.1_Silent_p.G263G|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Intron|BEST3_uc010stm.1_Silent_p.G157G|BEST3_uc001svh.2_Intron NM_032735 NP_116124 Q8N1M1 BEST3_HUMAN vitelliform macular dystrophy 2-like 3 isoform 263 Extracellular (Potential). chloride channel complex|plasma membrane chloride channel activity 0 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) GCCCTGCGTAGCCTTTGGTGG 0.502 NaN 0 0 0 0.01441 0 59 49 PPFIA2 8499 broad.mit.edu 37 12 81688795 81688795 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:81688795G>A uc001szo.1 - 24 2905 c.2744C>T c.(2743-2745)GCG>GTG p.A915V PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 841 ovary(3)|lung(2)|pancreas(1) 6 CACGTACCACGCAGGCATTCC 0.348 NaN 0 0 0 0.004482 0 8 28 CEP290 80184 broad.mit.edu 37 12 88530508 88530508 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:88530508C>T uc001tar.2 - 6 697 c.353G>A c.(352-354)TGC>TAC p.C118Y CEP290_uc009zsl.1_RNA NM_025114 NP_079390 O15078 CE290_HUMAN centrosomal protein 290kDa 118 Potential. cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding ovary(5)|breast(1)|pancreas(1) 7 TTCAAGTTGGCAAATTTCATT 0.338 NaN 0 0 0 0.007413 0 20 38 FGD6 55785 broad.mit.edu 37 12 95485582 95485582 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:95485582C>T uc001tdp.3 - 17 3975 c.3751G>A c.(3751-3753)GTA>ATA p.V1251I FGD6_uc009zsx.2_Missense_Mutation_p.V384I|FGD6_uc001tdq.1_Missense_Mutation_p.V287I NM_018351 NP_060821 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 1251 FYVE-type. 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(2)|breast(1) 3 GCTTGGCATACAATCTGAAAA 0.328 NaN 0 0 0 0.004482 0 9 25 PAH 5053 broad.mit.edu 37 12 103288653 103288653 + Missense_Mutation SNP C C T rs62508695 TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:103288653C>T uc001tjq.1 - 4 684 c.212G>A c.(211-213)CGT>CAT p.R71H PAH_uc010swc.1_Missense_Mutation_p.R71H NM_000277 NP_000268 P00439 PH4H_HUMAN phenylalanine hydroxylase 71 ACT. catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity ovary(4) 4 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) TTTCTTTAAACGAGAAGGTCT 0.443 NaN 0 0 0 0.016522 0 23 89 HSP90B1 7184 broad.mit.edu 37 12 104327817 104327817 + Silent SNP C C T rs144387251 byFrequency TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:104327817C>T uc001tkb.1 + 5 600 c.495C>T c.(493-495)ACC>ACT p.T165T HSP90B1_uc010swg.1_Intron|HSP90B1_uc009zui.1_Silent_p.T165T NM_003299 NP_003290 P14625 ENPL_HUMAN heat shock protein 90kDa beta, member 1 165 actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding ovary(2)|skin(1) 3 Rifabutin(DB00615) ACCTTGGTACCATAGCCAAAT 0.438 NaN 0 0 0 0.012213 0 31 50 ALDH1L2 160428 broad.mit.edu 37 12 105459055 105459055 + Missense_Mutation SNP A A T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:105459055A>T uc001tlc.2 - 6 903 c.776T>A c.(775-777)ATA>AAA p.I259K ALDH1L2_uc009zuo.2_5'UTR|ALDH1L2_uc009zup.2_RNA NM_001034173 NP_001029345 Q3SY69 AL1L2_HUMAN aldehyde dehydrogenase 1 family, member L2 259 10-formyltetrahydrofolate catabolic process|biosynthetic process mitochondrion acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding skin(1) 1 CTGTCCATTTATCTCTGTCCA 0.458 NaN 0 0 0 0.012213 0 32 51 PITPNM2 57605 broad.mit.edu 37 12 123481053 123481053 + Silent SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:123481053C>A uc001uej.1 - 12 1873 c.1734G>T c.(1732-1734)GTG>GTT p.V578V PITPNM2_uc001uek.1_Silent_p.V578V NM_020845 NP_065896 Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, 578 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) GACTCTCAGACACCGGCTGGT 0.652 NaN 1 0 1.1804e-14 0.021523 1.35917e-14 23 48 XPO4 64328 broad.mit.edu 37 13 21374421 21374421 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr13:21374421C>T uc001unq.3 - 15 2057 c.2021G>A c.(2020-2022)GGT>GAT p.G674D NM_022459 NP_071904 Q9C0E2 XPO4_HUMAN exportin 4 674 protein transport cytoplasm|nucleus protein binding large_intestine(1)|ovary(1)|kidney(1) 3 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) CCACTGAGAACCCTCTGTATC 0.413 NaN 0 0 0 0.010771 0 40 45 KL 9365 broad.mit.edu 37 13 33591101 33591101 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr13:33591101C>G uc001uus.2 + 1 531 c.523C>G c.(523-525)CGC>GGC p.R175G KL_uc001uur.1_Intron NM_004795 NP_004786 Q9UEF7 KLOT_HUMAN klotho precursor 175 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) CTACTACCGGCGCCTGCTGGA 0.726 NaN 0 0 0 0.013537 0 11 16 LRCH1 23143 broad.mit.edu 37 13 47243194 47243194 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr13:47243194G>C uc001vbj.2 + 3 718 c.482G>C c.(481-483)TGC>TCC p.C161S LRCH1_uc010acp.2_Missense_Mutation_p.C161S|LRCH1_uc001vbk.2_Missense_Mutation_p.C161S|LRCH1_uc001vbl.3_Missense_Mutation_p.C161S NM_015116 NP_055931 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) 161 LRR 3. ovary(1)|central_nervous_system(1) 2 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) CTGCCTGCCTGCCTGTGTGGT 0.443 NaN 0 0 0 0.01441 0 82 107 NEK5 341676 broad.mit.edu 37 13 52663442 52663442 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr13:52663442C>T uc001vge.2 - 14 1356 c.1216G>A c.(1216-1218)GAG>AAG p.E406K NM_199289 NP_954983 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 406 ATP binding|metal ion binding|protein serine/threonine kinase activity upper_aerodigestive_tract(1) 1 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) TGAAGGTACTCAGCAGGCCTT 0.333 NaN 0 0 0 0.00308 0 8 14 DIAPH3 81624 broad.mit.edu 37 13 60686272 60686272 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr13:60686272G>A uc001vht.2 - 3 481 c.262C>T c.(262-264)CCT>TCT p.P88S DIAPH3_uc001vhw.1_Missense_Mutation_p.P77S|DIAPH3_uc010aed.1_Missense_Mutation_p.P77S|DIAPH3_uc010aee.1_Intron NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN diaphanous homolog 3 isoform a 88 actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2) 2 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) GGAAGTGGAGGTCTCTCTTTC 0.438 NaN 0 0 0 0.01441 0 97 129 DZIP1 22873 broad.mit.edu 37 13 96277135 96277135 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr13:96277135C>G uc001vmk.2 - 8 1711 c.859G>C c.(859-861)GAC>CAC p.D287H DZIP1_uc001vml.2_Missense_Mutation_p.D287H NM_198968 NP_945319 Q86YF9 DZIP1_HUMAN DAZ interacting protein 1 isoform 2 287 Potential. germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding ovary(2) 2 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) TTCCACCTGTCAAATAACTTC 0.294 NaN 0 0 0 0.009096 0 4 15 DOCK9 23348 broad.mit.edu 37 13 99532221 99532221 + Nonsense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr13:99532221G>T uc001vnt.2 - 27 2932 c.2877C>A c.(2875-2877)TAC>TAA p.Y959* DOCK9_uc001vnw.2_Nonsense_Mutation_p.Y958*|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Nonsense_Mutation_p.Y959*|DOCK9_uc010tis.1_Nonsense_Mutation_p.Y958*|DOCK9_uc010tit.1_Nonsense_Mutation_p.Y959*|DOCK9_uc010afu.1_Nonsense_Mutation_p.Y805* NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 isoform a 959 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity central_nervous_system(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) AAAACCATGAGTACTAAAAGA 0.239 NaN 1 0 2.35188e-11 0.006122 2.61582e-11 18 21 NALCN 259232 broad.mit.edu 37 13 102029296 102029296 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr13:102029296G>T uc001vox.1 - 5 676 c.487C>A c.(487-489)CCA>ACA p.P163T NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.P163T|NALCN_uc001vpa.2_Missense_Mutation_p.P163T NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 163 Cytoplasmic (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CTGGTCCTTGGCAGTTCAAAT 0.378 NaN 1 0 2.41591e-17 0.004656 2.87116e-17 27 36 ERCC5 2073 broad.mit.edu 37 13 103510737 103510737 + Missense_Mutation SNP G G A rs146833751 byFrequency TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr13:103510737G>A uc001vpw.2 + 6 1084 c.641G>A c.(640-642)CGC>CAC p.R214H ERCC5_uc001vpu.1_Missense_Mutation_p.R668H|ERCC5_uc010tjb.1_Missense_Mutation_p.R214H|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.R46H NM_000123 NP_000114 P28715 ERCC5_HUMAN XPG-complementing protein 214 negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection nucleoplasm bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) TTCACCAAGCGCAGAAGAACA 0.383 NaN Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 0 0 0 0.010504 0 20 104 F10 2159 broad.mit.edu 37 13 113803477 113803477 + Silent SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr13:113803477C>A uc001vsx.2 + 8 1170 c.1113C>A c.(1111-1113)GGC>GGA p.G371G F10_uc001vsy.2_3'UTR|F10_uc001vsz.2_3'UTR NM_000504 NP_000495 P00742 FA10_HUMAN coagulation factor X preproprotein 371 Peptidase S1. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity pancreas(1) 1 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0805)|Epithelial(84;0.231) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031) ACGAGAAGGGCCGGCAGTCCA 0.637 NaN 1 0 1.06801e-11 0.009535 1.19505e-11 31 37 OR4K17 390436 broad.mit.edu 37 14 20586121 20586121 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr14:20586121C>G uc001vwo.1 + 1 556 c.556C>G c.(556-558)CAC>GAC p.H186D NM_001004715 NP_001004715 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, 158 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3) 3 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) GGGTCTCCTTCACTCAGGGTT 0.453 NaN 0 0 0 0.01441 0 60 94 TEP1 7011 broad.mit.edu 37 14 20876347 20876347 + Silent SNP T T A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr14:20876347T>A uc001vxe.2 - 2 292 c.252A>T c.(250-252)ACA>ACT p.T84T TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.T84T NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 84 TEP1 N-terminal 3. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) GGTCAGAAAGTGTGGCCAGGC 0.552 NaN 0 0 0 0.01441 0 75 69 RNASE9 390443 broad.mit.edu 37 14 21024720 21024720 + Nonsense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr14:21024720C>T uc010aho.2 - 4 668 c.509G>A c.(508-510)TGG>TAG p.W170* RNASE9_uc001vxq.3_Nonsense_Mutation_p.W175*|RNASE9_uc010ahp.2_Nonsense_Mutation_p.W175*|RNASE9_uc010ahq.2_Nonsense_Mutation_p.W175*|RNASE9_uc010ahr.2_Nonsense_Mutation_p.W175*|RNASE9_uc010ahs.2_Nonsense_Mutation_p.W170*|RNASE9_uc010aht.2_Nonsense_Mutation_p.W170*|RNASE9_uc010ahu.2_Nonsense_Mutation_p.W170* NM_001110357 NP_001103827 P60153 RNAS9_HUMAN ribonuclease, RNase A family, 9 (non-active) 170 extracellular region nucleic acid binding|pancreatic ribonuclease activity ovary(2) 2 all_cancers(95;0.00238) Epithelial(56;3.32e-06)|all cancers(55;2.46e-05) GBM - Glioblastoma multiforme(265;0.0141) TTCATTTTGCCATGAACAAGT 0.383 NaN 0 0 0 0.003163 0 14 17 TGM1 7051 broad.mit.edu 37 14 24723917 24723917 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr14:24723917C>A uc001wod.2 - 13 2165 c.2041G>T c.(2041-2043)GCC>TCC p.A681S TGM1_uc010tog.1_Missense_Mutation_p.A239S NM_000359 NP_000350 P22735 TGM1_HUMAN transglutaminase 1 681 cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) TGCTGCTTGGCCAGCACCTGC 0.627 NaN 1 0 1.7104e-27 0.01441 2.20248e-27 62 77 SCFD1 23256 broad.mit.edu 37 14 31119826 31119826 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr14:31119826C>T uc001wqm.1 + 9 749 c.725C>T c.(724-726)ACA>ATA p.T242I SCFD1_uc001wqn.1_Missense_Mutation_p.T175I|SCFD1_uc010tpg.1_Missense_Mutation_p.T183I|SCFD1_uc010tph.1_Missense_Mutation_p.T57I|SCFD1_uc010amf.1_Missense_Mutation_p.T57I|SCFD1_uc010tpi.1_Missense_Mutation_p.T150I|SCFD1_uc010amd.1_Missense_Mutation_p.T74I|SCFD1_uc010ame.1_Missense_Mutation_p.T175I NM_016106 NP_057190 Q8WVM8 SCFD1_HUMAN vesicle transport-related protein isoform a 242 post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane syntaxin-5 binding 0 Hepatocellular(127;0.0877) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119) GBM - Glioblastoma multiforme(265;0.0181) AGTCTTTTTACAGGTGATACA 0.289 NaN 0 0 0 0.007291 0 23 40 MIPOL1 145282 broad.mit.edu 37 14 37777260 37777260 + Splice_Site SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr14:37777260G>C uc001wuc.2 + 9 1127 c.624_splice c.e9-1 p.V208_splice MIPOL1_uc010amr.2_Intron|MIPOL1_uc001wub.3_Splice_Site_p.V177_splice|MIPOL1_uc001wud.2_Splice_Site_p.V208_splice|MIPOL1_uc010ams.2_Splice_Site_p.V208_splice|MIPOL1_uc001wue.2_Splice_Site_p.V177_splice|MIPOL1_uc010amt.2_Splice_Site_p.V27_splice NM_138731 NP_620059 Q8TD10 MIPO1_HUMAN mirror-image polydactyly 1 ovary(1)|central_nervous_system(1) 2 Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196) GBM - Glioblastoma multiforme(112;0.0358) CTTTTTTCTAGGCTAGAAAAT 0.358 NaN 0 0 0 0.006999 0 38 56 CLEC14A 161198 broad.mit.edu 37 14 38723983 38723983 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr14:38723983C>G uc001wum.1 - 1 1592 c.1245G>C c.(1243-1245)ATG>ATC p.M415I NM_175060 NP_778230 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 415 Helical; (Potential). integral to membrane sugar binding ovary(3)|skin(1) 4 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) CCAGTACTGTCATGGTCAAGA 0.557 NaN 0 0 0 0.013726 0 33 29 EXOC5 10640 broad.mit.edu 37 14 57689135 57689135 + Splice_Site SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr14:57689135C>A uc001xct.2 - 13 1548 c.1297_splice c.e13-1 p.L433_splice EXOC5_uc001xcs.2_Splice_Site_p.L112_splice|EXOC5_uc010trg.1_Splice_Site_p.L378_splice|EXOC5_uc010trh.1_Splice_Site_p.L368_splice NM_006544 NP_006535 O00471 EXOC5_HUMAN SEC10 protein exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking cytoplasm ovary(2)|breast(1) 3 GATCAGAGAGCTTAAAAACAA 0.308 NaN 1 0 1.96895e-08 0.016522 2.08543e-08 22 31 C14orf115 55237 broad.mit.edu 37 14 74824202 74824202 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr14:74824202C>A uc001xpw.3 + 2 907 c.716C>A c.(715-717)CCT>CAT p.P239H NM_018228 NP_060698 Q9H8Y1 VRTN_HUMAN hypothetical protein LOC55237 239 transposition, DNA-mediated DNA binding|transposase activity 0 BRCA - Breast invasive adenocarcinoma(234;0.00147) TACTTTGCCCCTGTGGTGGGG 0.687 NaN 1 0 3.28156e-27 0.01441 4.20615e-27 46 76 FLVCR2 55640 broad.mit.edu 37 14 76107313 76107313 + Silent SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr14:76107313C>A uc001xrs.2 + 7 1627 c.1251C>A c.(1249-1251)GGC>GGA p.G417G FLVCR2_uc010tvd.1_Silent_p.G212G NM_017791 NP_060261 Q9UPI3 FLVC2_HUMAN feline leukemia virus subgroup C cellular 417 Helical; (Potential). transmembrane transport integral to membrane|plasma membrane heme binding|heme transporter activity 0 BRCA - Breast invasive adenocarcinoma(234;0.029) TTATGACTGGCTATCTCCCAC 0.532 NaN 1 0 1.57351e-24 0.017118 1.98027e-24 35 58 EML5 161436 broad.mit.edu 37 14 89148328 89148328 + Silent SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr14:89148328C>T uc001xxg.2 - 22 3216 c.3030G>A c.(3028-3030)CTG>CTA p.L1010L EML5_uc001xxh.1_Silent_p.L149L NM_183387 NP_899243 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 1010 WD 16. cytoplasm|microtubule ovary(3) 3 CACAGATGGGCAGATAAGGGT 0.408 NaN 0 0 0 0.011902 0 44 54 ATXN3 4287 broad.mit.edu 37 14 92555107 92555107 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr14:92555107G>C uc001yac.3 - 6 511 c.442C>G c.(442-444)CTT>GTT p.L148V ATXN3_uc010aug.2_Missense_Mutation_p.L133V|ATXN3_uc001yad.3_Missense_Mutation_p.L93V|ATXN3_uc010auh.2_Missense_Mutation_p.L82V|ATXN3_uc001yae.3_Missense_Mutation_p.L50V|ATXN3_uc010twl.1_RNA NM_004993 NP_004984 P54252 ATX3_HUMAN ataxin 3 reference isoform 148 Josephin. cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleoplasm cysteine-type peptidase activity|protein binding 0 all_cancers(154;0.0768) COAD - Colon adenocarcinoma(157;0.224) AAAAGTGCAAGATATGTATCT 0.323 NaN 0 0 0 0.01441 0 127 144 DYNC1H1 1778 broad.mit.edu 37 14 102498707 102498707 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr14:102498707C>A uc001yks.2 + 52 10146 c.9982C>A c.(9982-9984)CTG>ATG p.L3328M NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 3328 Stalk (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 CTGCCTGCTGCTGGGGGAAAG 0.577 NaN 1 0 4.99412e-61 0.01441 7.12528e-61 186 115 ZNF839 55778 broad.mit.edu 37 14 102792535 102792535 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr14:102792535G>C uc001ylo.2 + 2 504 c.154G>C c.(154-156)GAC>CAC p.D52H ZNF839_uc010awk.1_Missense_Mutation_p.D168H|ZNF839_uc001ylp.2_RNA|ZNF839_uc001ylq.1_Missense_Mutation_p.D52H|ZNF839_uc001ylr.2_Missense_Mutation_p.D52H NM_018335 NP_060805 A8K0R7 ZN839_HUMAN zinc finger protein 839 52 intracellular zinc ion binding ovary(1)|central_nervous_system(1) 2 CTTCCTAAGTGACTTATGCCA 0.607 NaN 0 0 0 0.006999 0 38 17 KIF26A 26153 broad.mit.edu 37 14 104642734 104642734 + Silent SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr14:104642734C>G uc001yos.3 + 12 3609 c.3609C>G c.(3607-3609)GCC>GCG p.A1203A NM_015656 NP_056471 Q9ULI4 KI26A_HUMAN kinesin family member 26A 1203 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity pancreas(1) 1 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) CATCCGCAGCCCAGACCATCC 0.736 NaN 0 0 0 0.00499 0 16 20 INF2 64423 broad.mit.edu 37 14 105174812 105174812 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr14:105174812C>A uc001ypb.2 + 9 1918 c.1775C>A c.(1774-1776)GCC>GAC p.A592D INF2_uc010tyi.1_Missense_Mutation_p.A592D|INF2_uc001ypc.2_Missense_Mutation_p.A592D|INF2_uc010awz.1_RNA NM_022489 NP_071934 Q27J81 INF2_HUMAN inverted formin 2 isoform 1 592 FH2. actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding 0 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) AGCCCCGACGCCGAGGCTGTG 0.682 NaN OREG0022959 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 1.34159e-35 0.01441 1.80724e-35 61 62 KIAA0284 283638 broad.mit.edu 37 14 105354104 105354104 + Silent SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr14:105354104G>C uc010axb.2 + 12 3752 c.3528G>C c.(3526-3528)CGG>CGC p.R1176R INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Silent_p.R1106R|KIAA0284_uc001yps.2_Silent_p.R1082R|KIAA0284_uc001ypt.2_5'Flank NM_001112726 NP_001106197 Q9Y4F5 K0284_HUMAN hypothetical protein LOC283638 isoform 1 1176 cytoplasm|microtubule breast(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.178) CCCGGAAGCGGGCCGGCTCCT 0.697 NaN 0 0 0 0.008291 0 10 6 OTUD7A 161725 broad.mit.edu 37 15 31776332 31776332 + Missense_Mutation SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr15:31776332A>G uc001zfq.2 - 11 2039 c.1946T>C c.(1945-1947)TTC>TCC p.F649S OTUD7A_uc001zfr.2_Missense_Mutation_p.F656S NM_130901 NP_570971 Q8TE49 OTU7A_HUMAN OTU domain containing 7A 649 cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding pancreas(1)|skin(1) 2 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) CTCCTCGTGGAACTGGTGCCG 0.592 NaN 0 0 0 0.012319 0 17 32 EIF3J 8669 broad.mit.edu 37 15 44829435 44829435 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr15:44829435G>C uc001ztv.2 + 1 170 c.43G>C c.(43-45)GAC>CAC p.D15H uc001ztu.2_5'Flank|EIF3J_uc010ueg.1_Missense_Mutation_p.D15H|EIF3J_uc001ztw.2_Missense_Mutation_p.D15H NM_003758 NP_003749 O75822 EIF3J_HUMAN eukaryotic translation initiation factor 3, 15 Sufficient for interaction with EIF3B. cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity 0 all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122) all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758) GGACTCCTGGGGTGAGGAGAA 0.483 NaN 0 0 0 0.004482 0 8 10 SLC12A1 6557 broad.mit.edu 37 15 48561931 48561931 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr15:48561931C>A uc001zwn.3 + 19 2588 c.2372C>A c.(2371-2373)ACA>AAA p.T791K SLC12A1_uc010uew.1_Missense_Mutation_p.T597K|SLC12A1_uc010bem.2_Missense_Mutation_p.T791K|SLC12A1_uc001zwq.3_Missense_Mutation_p.T562K|SLC12A1_uc001zwr.3_Missense_Mutation_p.T518K NM_000338 NP_000329 Q13621 S12A1_HUMAN sodium potassium chloride cotransporter 2 791 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity ovary(1)|central_nervous_system(1) 2 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) GCTCCCTTGACAGAGATTGAG 0.408 NaN 1 0 4.3838e-07 0.016723 4.58194e-07 13 16 ATP8B4 79895 broad.mit.edu 37 15 50211048 50211048 + Nonsense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr15:50211048C>A uc001zxu.2 - 19 2165 c.2023G>T c.(2023-2025)GGA>TGA p.G675* ATP8B4_uc010ber.2_Nonsense_Mutation_p.G548*|ATP8B4_uc010ufd.1_Nonsense_Mutation_p.G485*|ATP8B4_uc010ufe.1_RNA NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 675 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TGTTTGTCTCCTGTTAGGACC 0.343 NaN 1 0 1.90571e-15 0.019004 2.20808e-15 33 45 UNC13C 440279 broad.mit.edu 37 15 54803976 54803976 + Missense_Mutation SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr15:54803976A>G uc002ack.2 + 22 5405 c.5405A>G c.(5404-5406)CAA>CGA p.Q1802R NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 1802 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AACAATATTCAACAATTGCGG 0.313 NaN 0 0 0 0.010729 0 11 5 NEDD4 4734 broad.mit.edu 37 15 56152722 56152722 + Silent SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr15:56152722G>T uc002adj.2 - 7 2400 c.2100C>A c.(2098-2100)GCC>GCA p.A700A NEDD4_uc002adl.2_Silent_p.A281A|NEDD4_uc002adi.2_Silent_p.A628A|NEDD4_uc010ugj.1_Silent_p.A684A|NEDD4_uc010bfm.2_Silent_p.A683A|NEDD4_uc002adk.2_RNA NM_198400 NP_006145 P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally 700 Mediates interaction with TNIK (By similarity). development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity skin(2)|ovary(1)|breast(1) 4 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) GTGATGGGAAGGCCTGGTTGC 0.423 NaN 1 0 5.50884e-06 0.013537 5.68291e-06 11 66 VPS13C 54832 broad.mit.edu 37 15 62146695 62146695 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr15:62146695C>A uc002agz.2 - 85 11297 c.11223G>T c.(11221-11223)CAG>CAT p.Q3741H VPS13C_uc002aha.2_Missense_Mutation_p.Q3698H NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 3741 protein localization ovary(2) 2 TCACTGATGACTGCTTCATCA 0.398 NaN 1 0 1.37143e-49 0.01441 1.92209e-49 112 135 CSPG4 1464 broad.mit.edu 37 15 75981330 75981330 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr15:75981330G>A uc002baw.2 - 3 2169 c.2076C>T c.(2074-2076)GCC>GCT p.A692A NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 precursor 692 CSPG 3.|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity ovary(2)|pancreas(1) 3 CCTGCCCCACGGCATTGGTCT 0.662 NaN 0 0 0 0.01441 0 57 84 TBC1D2B 23102 broad.mit.edu 37 15 78290635 78290635 + Missense_Mutation SNP C C T rs117285325 by1000genomes TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr15:78290635C>T uc002bcy.3 - 13 2759 c.2759G>A c.(2758-2760)CGA>CAA p.R920Q TBC1D2B_uc010bla.2_Missense_Mutation_p.D903N NM_144572 NP_653173 Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B isoform a 920 intracellular protein binding|Rab GTPase activator activity p.D903N(1) ovary(1)|large_intestine(1)|breast(1) 3 GTAGGCGCGTCGGTTCCGGAT 0.617 NaN 0 0 0 0.001168 0 3 20 ZNF774 342132 broad.mit.edu 37 15 90897897 90897897 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr15:90897897G>C uc002bpk.3 + 2 191 c.5G>C c.(4-6)TGG>TCG p.W2S NM_001004309 NP_001004309 Q6NX45 ZN774_HUMAN zinc finger protein 774 2 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331) BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) TTGATAATGTGGCTGGGGACT 0.483 NaN 0 0 0 0.008291 0 10 11 RCCD1 91433 broad.mit.edu 37 15 91500713 91500713 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr15:91500713G>A uc002bqj.2 + 4 817 c.537G>A c.(535-537)GTG>GTA p.V179V RCCD1_uc002bqk.2_Silent_p.V179V|RCCD1_uc002bql.2_Silent_p.V179V|RCCD1_uc010bob.2_Intron NM_033544 NP_291022 A6NED2 RCCD1_HUMAN RCC1 domain containing 1 179 RCC1 2. RLPLLPCARAYVSPRAPFYRPLAPELRARQLELGAEHALLL DAAGQVFSWGGGR -> GGAAGGLVRLRFLRLRAGAGLRTR APGAQPQSAAGGRRHLPRERELELHRFRDP (in Ref. 3; AAI13827). 0 Lung NSC(78;0.0987)|all_lung(78;0.175) Lung(145;0.189) CTGGCCAGGTGTTCTCCTGGG 0.706 NaN 0 0 0 0.009096 0 3 5 NR2F2 7026 broad.mit.edu 37 15 96877679 96877679 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr15:96877679G>T uc010uri.1 + 2 2041 c.817G>T c.(817-819)GCC>TCC p.A273S NR2F2_uc002btp.2_Missense_Mutation_p.A140S|NR2F2_uc010urj.1_Missense_Mutation_p.A120S|NR2F2_uc010urk.1_Missense_Mutation_p.A120S NM_021005 NP_066285 P24468 COT2_HUMAN nuclear receptor subfamily 2, group F, member 2 273 Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity). lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment nucleus ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(1) 3 Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297) OV - Ovarian serous cystadenocarcinoma(32;0.0856) CCTGGCCGCCGCCGGCCTGCA 0.652 NaN 1 0 4.65686e-17 0.017118 5.51079e-17 36 50 SOX8 30812 broad.mit.edu 37 16 1034810 1034810 + Silent SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:1034810G>T uc002ckn.2 + 3 880 c.765G>T c.(763-765)GGG>GGT p.G255G NM_014587 NP_055402 P57073 SOX8_HUMAN SRY (sex determining region Y)-box 8 255 adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis cytoplasm|nucleus central_nervous_system(1)|skin(1) 2 Hepatocellular(780;0.00308) TGGACAGCGGGCGCCAGAACA 0.682 NaN 1 0 3.65163e-15 0.00632 4.2222e-15 28 21 PKD1 5310 broad.mit.edu 37 16 2168842 2168842 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:2168842G>A uc002cos.1 - 4 573 c.364C>T c.(364-366)CTG>TTG p.L122L PKD1_uc002cot.1_Silent_p.L122L NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 122 Extracellular (Potential). calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 TTCCCACTCAGGTTTCTGCAG 0.682 NaN 0 0 0 0.006214 0 8 38 ZSCAN10 84891 broad.mit.edu 37 16 3140433 3140433 + Silent SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:3140433C>A uc002ctv.1 - 5 925 c.837G>T c.(835-837)GTG>GTT p.V279V ZSCAN10_uc002cty.1_5'UTR|ZSCAN10_uc002ctw.1_Silent_p.V197V|ZSCAN10_uc002ctx.1_Silent_p.V207V NM_032805 NP_116194 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 279 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 CGCCCTCAGCCACTTTGACCT 0.652 NaN 1 0 1.70349e-48 0.01441 2.38145e-48 95 135 NLRC3 197358 broad.mit.edu 37 16 3613643 3613643 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:3613643C>A uc010btn.2 - 5 1706 c.1295G>T c.(1294-1296)GGC>GTC p.G432V NM_178844 NP_849172 Q7RTR2 NLRC3_HUMAN NOD3 protein 432 NACHT. I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 GCACGGGGCGCCCTGCAGCAG 0.587 NaN 1 0 1.01871e-10 0.008871 1.11516e-10 19 19 USP7 7874 broad.mit.edu 37 16 9014215 9014215 + Splice_Site SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:9014215C>T uc002czl.2 - 5 810 c.611_splice c.e5+1 p.A204_splice USP7_uc010uyk.1_Splice_Site_p.A105_splice|USP7_uc010uyj.1_Splice_Site_p.A105_splice|USP7_uc002czk.2_Splice_Site_p.A188_splice|USP7_uc010uyl.1_Splice_Site NM_003470 NP_003461 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(3) 3 GAAAAACTTACGCAACTCCAT 0.378 NaN 0 0 0 0.005524 0 37 51 NTAN1 123803 broad.mit.edu 37 16 15133844 15133844 + Silent SNP T T A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:15133844T>A uc002ddd.2 - 8 626 c.621A>T c.(619-621)CGA>CGT p.R207R PDXDC1_uc002ddc.2_Intron|NTAN1_uc010uzo.1_Silent_p.R102R NM_173474 NP_775745 Q96AB6 NTAN1_HUMAN N-terminal Asn amidase 207 cytoplasm 0 CTGCTAAAGTTCGCGCAGCAC 0.443 NaN 0 0 0 0.01441 0 129 154 ABCC1 4363 broad.mit.edu 37 16 16130386 16130386 + Silent SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:16130386C>T uc010bvi.2 + 7 910 c.735C>T c.(733-735)AAC>AAT p.N245N ABCC1_uc010bvj.2_Silent_p.N245N|ABCC1_uc010bvk.2_Silent_p.N245N|ABCC1_uc010bvl.2_Silent_p.N245N|ABCC1_uc010bvm.2_Silent_p.N245N|ABCC1_uc002del.3_Silent_p.N129N|ABCC1_uc010bvn.2_Silent_p.N108N NM_004996 NP_004987 P33527 MRP1_HUMAN ATP-binding cassette, sub-family C, member 1 245 Cytoplasmic. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4) 4 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GGTCCTTAAACAAGGAGGACA 0.532 NaN 0 0 0 0.01441 0 66 74 GPR139 124274 broad.mit.edu 37 16 20084882 20084882 + Silent SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:20084882G>T uc002dgu.1 - 1 219 c.57C>A c.(55-57)CCC>CCA p.P19P GPR139_uc010vaw.1_5'UTR NM_001002911 NP_001002911 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 19 Extracellular (Potential). integral to membrane|plasma membrane ovary(2) 2 AGGCCGAGCCGGGGGACCACC 0.697 NaN 1 0 1.2644e-06 0.010504 1.31674e-06 15 5 SCNN1B 6338 broad.mit.edu 37 16 23388689 23388689 + Nonsense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:23388689G>A uc002dln.2 + 10 1562 c.1386G>A c.(1384-1386)TGG>TGA p.W462* NM_000336 NP_000327 P51168 SCNNB_HUMAN sodium channel, nonvoltage-gated 1, beta 462 Extracellular (By similarity). excretion|sensory perception of taste apical plasma membrane ligand-gated sodium channel activity|WW domain binding ovary(3)|breast(2)|large_intestine(1)|pancreas(1) 7 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) TGGCTGACTGGCCTTCTGAGG 0.587 NaN 0 0 0 0.00623 0 34 55 GTF3C1 2975 broad.mit.edu 37 16 27475764 27475764 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:27475764C>T uc002dov.1 - 34 5789 c.5749G>A c.(5749-5751)GAA>AAA p.E1917K GTF3C1_uc002dou.2_Missense_Mutation_p.E1917K NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1917 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 GCGGTGTCTTCAAGAGCTGGG 0.652 NaN 0 0 0 0.01441 0 107 104 GTF3C1 2975 broad.mit.edu 37 16 27556790 27556790 + Silent SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:27556790C>G uc002dov.1 - 2 316 c.276G>C c.(274-276)GTG>GTC p.V92V GTF3C1_uc002dou.2_Silent_p.V92V NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 92 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 CCTCCAAAGCCACCGGGTCCC 0.423 NaN 0 0 0 0.021022 0 37 39 CLN3 1201 broad.mit.edu 37 16 28493802 28493802 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:28493802C>A uc002dpo.2 - 11 1225 c.902G>T c.(901-903)GGA>GTA p.G301V uc010vct.1_Intron|CLN3_uc002dpl.2_Missense_Mutation_p.G223V|CLN3_uc010vcu.1_Missense_Mutation_p.G201V|CLN3_uc002dpn.2_Missense_Mutation_p.G202V|CLN3_uc002dpm.2_Missense_Mutation_p.G247V|CLN3_uc010vcv.1_Missense_Mutation_p.G277V|CLN3_uc010byd.2_Missense_Mutation_p.G301V|CLN3_uc002dpp.2_Missense_Mutation_p.G301V|CLN3_uc002dpt.1_Missense_Mutation_p.G201V|CLN3_uc002dpq.1_Missense_Mutation_p.G253V|CLN3_uc010bye.1_Intron|CLN3_uc002dpr.1_RNA|CLN3_uc010byf.1_RNA|CLN3_uc002dps.1_Missense_Mutation_p.G174V|CLN3_uc002dpu.1_Missense_Mutation_p.G199V|CLN3_uc002dpw.1_Missense_Mutation_p.G148V|CLN3_uc010vcw.1_Missense_Mutation_p.G247V|CLN3_uc002dqa.2_3'UTR|CLN3_uc010vcx.1_3'UTR|CLN3_uc002dpx.1_Missense_Mutation_p.G178V|CLN3_uc002dpy.1_Missense_Mutation_p.G145V NM_000086 NP_000077 Q13286 CLN3_HUMAN ceroid-lipofuscinosis, neuronal 3 301 amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network unfolded protein binding 0 ACTTACAAGTCCCTGGTTAAT 0.542 NaN 1 0 9.16793e-09 0.00499 9.76622e-09 15 102 RABEP2 79874 broad.mit.edu 37 16 28925724 28925724 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:28925724C>A uc002drq.2 - 5 775 c.727G>T c.(727-729)GTC>TTC p.V243F uc010vct.1_Intron|RABEP2_uc010vdf.1_Missense_Mutation_p.V172F|RABEP2_uc010byn.2_Missense_Mutation_p.V243F|RABEP2_uc002drr.2_Missense_Mutation_p.V243F NM_024816 NP_079092 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 243 endocytosis|protein transport early endosome growth factor activity|GTPase activator activity ovary(1)|breast(1)|skin(1) 3 CTGCTGCCGACCCCACCGCCA 0.672 NaN 1 0 3.76114e-14 0.019004 4.29512e-14 37 32 SEPT1 1731 broad.mit.edu 37 16 30392504 30392504 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:30392504C>A uc002dxy.2 - 7 689 c.502G>T c.(502-504)GTC>TTC p.V168F SEPT1_uc002dxw.2_5'Flank|SEPT1_uc002dxx.2_5'UTR|SEPT1_uc010veq.1_3'UTR NM_052838 NP_443070 Q8WYJ6 SEPT1_HUMAN septin 1 168 cell cycle|cell division microtubule organizing center|septin complex GTP binding|protein binding ovary(1) 1 Colorectal(24;0.193) TTGCCAATGACTGGGATGATG 0.582 NaN 1 0 4.96213e-28 0.01441 6.41954e-28 56 92 ZNF668 79759 broad.mit.edu 37 16 31073488 31073488 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:31073488C>T uc010caf.2 - 3 1118 c.761G>A c.(760-762)TGC>TAC p.C254Y ZNF668_uc002eao.2_Missense_Mutation_p.C254Y NM_024706 NP_078982 Q96K58 ZN668_HUMAN zinc finger protein 668 254 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4) 4 GCAGGCCGGGCAGCGGTAGGG 0.697 NaN 0 0 0 0.021022 0 35 39 ZNF646 9726 broad.mit.edu 37 16 31088322 31088322 + Missense_Mutation SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:31088322A>G uc002eap.2 + 2 966 c.677A>G c.(676-678)GAG>GGG p.E226G ZNF668_uc002eao.2_5'Flank NM_014699 NP_055514 O15015 ZN646_HUMAN zinc finger protein 646 226 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(2) 2 GGGGGCCAGGAGCCCACCCAG 0.602 NaN 0 0 0 0.006999 0 39 42 MYLK3 91807 broad.mit.edu 37 16 46764580 46764580 + Missense_Mutation SNP T T C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:46764580T>C uc002eei.3 - 5 1609 c.1493A>G c.(1492-1494)GAA>GGA p.E498G MYLK3_uc010vge.1_Missense_Mutation_p.E157G|MYLK3_uc002eej.1_Missense_Mutation_p.E157G NM_182493 NP_872299 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 498 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1) 7 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) TACCCGGTGTTCAAAAGGAGC 0.602 NaN 0 0 0 0.01441 0 46 92 ABCC11 85320 broad.mit.edu 37 16 48248887 48248887 + Missense_Mutation SNP G G C rs142830864 TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:48248887G>C uc002eff.1 - 8 1503 c.1153C>G c.(1153-1155)CTG>GTG p.L385V ABCC11_uc002efg.1_Missense_Mutation_p.L385V|ABCC11_uc002efh.1_Missense_Mutation_p.L385V|ABCC11_uc010vgk.1_RNA NM_033151 NP_149163 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C, member 11 385 ABC transmembrane type-1 1.|Helical; (Potential). integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(3)|skin(2)|central_nervous_system(1) 6 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) ATACTTGTCAGGCTCTGGACA 0.448 NaN Cerumen_Type 0 0 0 0.008361 0 31 30 C16orf78 123970 broad.mit.edu 37 16 49407936 49407936 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:49407936C>A uc002efr.2 + 1 129 c.86C>A c.(85-87)TCT>TAT p.S29Y NM_144602 NP_653203 Q8WTQ4 CP078_HUMAN hypothetical protein LOC123970 29 central_nervous_system(1) 1 AGGCGCATGTCTGACCTCACC 0.468 NaN 1 0 3.94839e-29 0.01441 5.20512e-29 63 55 MMP2 4313 broad.mit.edu 37 16 55523725 55523725 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:55523725G>A uc002ehz.3 + 7 1480 c.1169G>A c.(1168-1170)TGC>TAC p.C390Y MMP2_uc010vhd.1_Missense_Mutation_p.C314Y|MMP2_uc010ccc.2_Missense_Mutation_p.C340Y NM_004530 NP_004521 P08253 MMP2_HUMAN matrix metalloproteinase 2 isoform a 390 Fibronectin type-II 3.|Collagen-binding. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 11 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) TGGGGCTTCTGCCCTGACCAA 0.572 NaN 0 0 0 0.021523 0 25 37 PRSS54 221191 broad.mit.edu 37 16 58314503 58314503 + Silent SNP G G A rs151211769 TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:58314503G>A uc002enf.2 - 7 1208 c.813C>T c.(811-813)GCC>GCT p.A271A PRSS54_uc002eng.2_Silent_p.A271A|PRSS54_uc010vie.1_Silent_p.A172A|CCDC113_uc002ene.2_3'UTR|CCDC113_uc010vid.1_3'UTR NM_001080492 NP_001073961 Q6PEW0 PRS54_HUMAN plasma kallikrein-like protein 4 precursor 271 proteolysis extracellular region serine-type endopeptidase activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 GGGGAGGGCCGGCCCTCTCAG 0.527 NaN 0 0 0 0.013726 0 33 29 CDH5 1003 broad.mit.edu 37 16 66436895 66436895 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:66436895C>A uc002eom.3 + 12 2334 c.2178C>A c.(2176-2178)GAC>GAA p.D726E NM_001795 NP_001786 P33151 CADH5_HUMAN cadherin 5, type 2 preproprotein 726 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding ovary(2)|lung(2)|central_nervous_system(1)|skin(1) 6 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) CCCCCTACGACACGCTGCACA 0.667 NaN 1 0 3.5997e-14 0.014323 4.12775e-14 23 23 SF3B3 23450 broad.mit.edu 37 16 70605036 70605036 + Silent SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:70605036G>T uc002ezf.2 + 25 3658 c.3447G>T c.(3445-3447)CGG>CGT p.R1149R NM_012426 NP_036558 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3 1149 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(1) 1 Ovarian(137;0.0694) TGCACCTGCGGTCTGAACATC 0.498 NaN 1 0 8.74965e-44 0.01441 1.20199e-43 109 113 MARVELD3 91862 broad.mit.edu 37 16 71668682 71668682 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:71668682G>T uc002fat.2 + 3 1245 c.1182G>T c.(1180-1182)AAG>AAT p.K394N MARVELD3_uc002fau.2_Intron|MARVELD3_uc010cge.2_Intron NM_052858 NP_443090 Q96A59 MALD3_HUMAN MARVEL domain containing 3 isoform 2 394 Cytoplasmic (Potential). integral to membrane skin(1) 1 Ovarian(137;0.125) TAAAAGAGAAGCCAGCAGAAA 0.493 NaN 1 0 1.07637e-12 0.021022 1.21173e-12 37 43 CLEC18B 497190 broad.mit.edu 37 16 74452026 74452026 + Silent SNP T T A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:74452026T>A uc002fct.2 - 3 587 c.387A>T c.(385-387)GCA>GCT p.A129A CLEC18B_uc002fcu.2_Silent_p.A129A|CLEC18B_uc010vmu.1_Intron|CLEC18B_uc010vmw.1_Silent_p.A129A NM_001011880 NP_001011880 Q6UXF7 CL18B_HUMAN C-type lectin domain family 18, member B 129 SCP. extracellular region sugar binding 0 GCTGCCCCTCTGCAAACCACA 0.662 NaN 0 0 0 0.007291 0 29 36 TP53 7157 broad.mit.edu 37 17 7578455 7578455 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr17:7578455C>G uc002gim.2 - 5 669 c.475G>C c.(475-477)GCC>CCC p.A159P TP53_uc002gig.1_Missense_Mutation_p.A159P|TP53_uc002gih.2_Missense_Mutation_p.A159P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.A27P|TP53_uc010cng.1_Missense_Mutation_p.A27P|TP53_uc002gii.1_Missense_Mutation_p.A27P|TP53_uc010cnh.1_Missense_Mutation_p.A159P|TP53_uc010cni.1_Missense_Mutation_p.A159P|TP53_uc002gij.2_Missense_Mutation_p.A159P|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.A66P|TP53_uc002gio.2_Missense_Mutation_p.A27P|TP53_uc010vug.1_Missense_Mutation_p.A120P NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 159 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). A -> G (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> D (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.A159V(30)|p.A159P(13)|p.A159A(8)|p.A159T(7)|p.A159D(7)|p.0?(7)|p.A159fs*11(5)|p.A159S(4)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R158fs*11(2)|p.A159fs*21(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(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) ATGGCCATGGCGCGGACGCGG 0.627 111 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) 0 0 0 0.01441 0 52 9 MYH4 4622 broad.mit.edu 37 17 10353854 10353854 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr17:10353854G>C uc002gmn.2 - 30 4208 c.4097C>G c.(4096-4098)TCC>TGC p.S1366C uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 1366 Potential. 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 GTTGGCCTTGGACATTCCCCT 0.602 NaN 0 0 0 0.01441 0 102 9 SREBF1 6720 broad.mit.edu 37 17 17719174 17719174 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr17:17719174C>G uc002gru.1 - 12 2577 c.2383G>C c.(2383-2385)GTG>CTG p.V795L SREBF1_uc002grp.1_Missense_Mutation_p.V414L|SREBF1_uc002grq.1_Missense_Mutation_p.V314L|SREBF1_uc002grr.1_Missense_Mutation_p.V541L|SREBF1_uc002grs.1_Missense_Mutation_p.V771L|SREBF1_uc002grt.1_Missense_Mutation_p.V825L|MIR33B_hsa-mir-33b|MI0003646_5'Flank NM_004176 NP_004167 P36956 SRBP1_HUMAN sterol regulatory element binding transcription 795 Cytoplasmic (Potential). cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding skin(1) 1 AAGAGAGCACCTGGGTTCCCG 0.627 NaN 0 0 0 0.00308 0 8 21 TOP3A 7156 broad.mit.edu 37 17 18181198 18181198 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr17:18181198C>A uc002gsx.1 - 18 2847 c.2618G>T c.(2617-2619)TGC>TTC p.C873F TOP3A_uc010cpz.1_Missense_Mutation_p.C325F|TOP3A_uc010vxr.1_Missense_Mutation_p.C403F|TOP3A_uc002gsw.1_Missense_Mutation_p.C325F|TOP3A_uc010vxs.1_Missense_Mutation_p.C771F NM_004618 NP_004609 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 873 2 X 27 AA approximate repeats. DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding skin(3) 3 GCCTGGTGGGCATCCCAGGGA 0.642 NaN 1 0 2.14255e-21 0.01441 2.64836e-21 57 55 RNF112 7732 broad.mit.edu 37 17 19319264 19319264 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr17:19319264C>T uc010vyw.1 + 14 1871 c.1672C>T c.(1672-1674)CTC>TTC p.L558F RNF112_uc010vyv.1_Missense_Mutation_p.L559F NM_007148 NP_009079 Q7Z5V9 Q7Z5V9_HUMAN ring finger protein 112 558 GTP binding|GTPase activity|zinc ion binding ovary(2) 2 GGGGGCCGGGCTCATGGGCCT 0.692 NaN 0 0 0 0.00308 0 8 11 RDM1 201299 broad.mit.edu 37 17 34251642 34251642 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr17:34251642G>A uc002hkh.2 - 4 583 c.534C>T c.(532-534)GGC>GGT p.G178G RDM1_uc010cty.2_Intron|RDM1_uc010ctz.2_Intron|RDM1_uc010cua.2_Silent_p.G155G|RDM1_uc002hkg.3_Silent_p.G155G|RDM1_uc010cub.2_Intron|RDM1_uc010cud.2_Silent_p.G178G|RDM1_uc010cuf.2_Intron|RDM1_uc010cue.2_Intron|RDM1_uc010cug.2_Intron|RDM1_uc010cuc.2_Intron|RDM1_uc010wco.1_Intron|RDM1_uc010wcp.1_Silent_p.G155G|RDM1_uc002hki.2_Silent_p.G178G NM_145654 NP_663629 Q8NG50 RDM1_HUMAN RAD52 motif 1 isoform 1 178 DNA recombination|DNA repair Cajal body|cytoplasm|nucleolus|PML body DNA binding|nucleotide binding|RNA binding ovary(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) CCTCCACCAAGCCAATGCCAG 0.483 NaN Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 0 0 0 0.01441 0 113 10 HSD17B1 3292 broad.mit.edu 37 17 40704977 40704977 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr17:40704977C>G uc002hzw.2 + 1 994 c.26C>G c.(25-27)ACC>AGC p.T9S HSD17B1_uc002hzx.2_Missense_Mutation_p.T9S|HSD17B1_uc010wgm.1_RNA|uc002hzy.2_Missense_Mutation_p.V202L|HSD17B1_uc010cyi.2_Missense_Mutation_p.T9S NM_000413 NP_000404 P14061 DHB1_HUMAN hydroxysteroid (17-beta) dehydrogenase 1 9 estrogen biosynthetic process cytosol binding|estradiol 17-beta-dehydrogenase activity 0 all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261) BRCA - Breast invasive adenocarcinoma(366;0.129) NADH(DB00157) GTGCTCATCACCGGCTGTTCC 0.647 NaN 0 0 0 0.01441 0 55 4 ACBD4 79777 broad.mit.edu 37 17 43220992 43220992 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr17:43220992G>A uc010wjj.1 + 12 1479 c.1010G>A c.(1009-1011)AGC>AAC p.S337N ACBD4_uc002iie.2_Missense_Mutation_p.S337N|ACBD4_uc002iif.2_3'UTR|ACBD4_uc002iic.2_3'UTR|ACBD4_uc010dae.2_Missense_Mutation_p.S259N NM_001135704 NP_001129176 Q8NC06 ACBD4_HUMAN acyl-Coenzyme A binding domain containing 4 Error:Variant_position_missing_in_Q8NC06_after_alignment fatty-acyl-CoA binding ovary(1)|kidney(1) 2 TGTGCCCTGAGCCTTCCTAGG 0.542 NaN 0 0 0 0.01441 0 66 0 CBX1 10951 broad.mit.edu 37 17 46152410 46152410 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr17:46152410C>G uc002ind.3 - 4 852 c.371G>C c.(370-372)GGA>GCA p.G124A CBX1_uc002ine.3_Missense_Mutation_p.G124A NM_006807 NP_006798 P83916 CBX1_HUMAN heterochromatin protein 1-beta 124 Chromo 2; shadow subtype. nuclear heterochromatin|nucleoplasm|spindle chromatin binding|enzyme binding 0 GTCTGTAGCTCCAATAATCCG 0.453 NaN 0 0 0 0.01441 0 87 87 SAMD14 201191 broad.mit.edu 37 17 48195665 48195665 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr17:48195665C>T uc002iqg.2 - 3 369 c.70G>A c.(70-72)GCC>ACC p.A24T SAMD14_uc002iqd.2_5'Flank|SAMD14_uc002iqe.2_5'UTR|SAMD14_uc002iqf.2_Missense_Mutation_p.A24T NM_174920 NP_777580 Q8IZD0 SAM14_HUMAN sterile alpha motif domain containing 14 24 0 TCCAGTCTGGCCGTCTCTGGC 0.662 NaN 0 0 0 0.01441 0 95 83 COL1A1 1277 broad.mit.edu 37 17 48269225 48269225 + Missense_Mutation SNP T T C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr17:48269225T>C uc002iqm.2 - 31 2177 c.2051A>G c.(2050-2052)GAG>GGG p.E684G NM_000088 NP_000079 P02452 CO1A1_HUMAN alpha 1 type I collagen preproprotein 684 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(372) soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1) 382 Collagenase(DB00048)|Palifermin(DB00039) CACACCACGCTCGCCAGGGAA 0.642 NaN T PDGFB|USP6 dermatofibrosarcoma protuberans|aneurysmal bone cyst Osteogenesis imperfecta 0 0 0 0.012319 0 19 23 OR4D1 26689 broad.mit.edu 37 17 56232574 56232574 + Silent SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr17:56232574C>G uc010wno.1 + 1 60 c.60C>G c.(58-60)ACC>ACG p.T20T MSX2P1_uc002ivn.2_5'Flank NM_012374 NP_036506 Q15615 OR4D1_HUMAN olfactory receptor, family 4, subfamily D, 20 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TTTCACAGACCCAAGAGCTCC 0.453 NaN 0 0 0 0.01441 0 113 97 TANC2 26115 broad.mit.edu 37 17 61278265 61278265 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr17:61278265G>A uc002jal.3 + 5 517 c.494G>A c.(493-495)GGG>GAG p.G165E TANC2_uc010wpe.1_Missense_Mutation_p.G75E NM_025185 NP_079461 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and 165 binding ovary(2) 2 TGCAGCTATGGGGCTGTTACT 0.468 NaN 0 0 0 0.01441 0 127 78 RGS9 8787 broad.mit.edu 37 17 63221386 63221386 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr17:63221386G>A uc002jfe.2 + 18 1784 c.1674G>A c.(1672-1674)GAG>GAA p.E558E RGS9_uc010dem.2_Silent_p.E555E|RGS9_uc002jfd.2_Silent_p.E555E|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Silent_p.E329E NM_003835 NP_003826 O75916 RGS9_HUMAN regulator of G-protein signaling 9 isoform 1 558 intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity ovary(2)|skin(2) 4 AGAGCAGCGAGGCCTCCCTCG 0.672 NaN 0 0 0 0.01441 0 104 165 SDK2 54549 broad.mit.edu 37 17 71426748 71426748 + Silent SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr17:71426748C>T uc010dfm.2 - 12 1485 c.1485G>A c.(1483-1485)CGG>CGA p.R495R SDK2_uc010dfn.2_Silent_p.R174R NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN sidekick 2 495 Extracellular (Potential). cell adhesion integral to membrane ovary(2) 2 TGATGCGGGTCCGAGCTGAAA 0.587 NaN 0 0 0 0.004672 0 3 21 NAT9 26151 broad.mit.edu 37 17 72769175 72769175 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr17:72769175C>A uc002jlq.2 - 4 268 c.194G>T c.(193-195)TGT>TTT p.C65F NAT9_uc002jlr.2_Missense_Mutation_p.C64F NM_015654 NP_056469 Q9BTE0 NAT9_HUMAN N-acetyltransferase 9 65 N-acetyltransferase. protein complex N-acetyltransferase activity 0 AATGAAGGTACACTCTGAGGA 0.567 NaN 1 0 1.99505e-19 0.012213 2.41232e-19 29 15 FBF1 85302 broad.mit.edu 37 17 73914079 73914079 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr17:73914079C>A uc002jqc.2 - 21 2548 c.2274G>T c.(2272-2274)GAG>GAT p.E758D FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Missense_Mutation_p.E749D|FBF1_uc002jqd.1_Missense_Mutation_p.E759D|FBF1_uc002jqb.2_RNA|FBF1_uc010dgr.1_Missense_Mutation_p.E69D NM_001080542 NP_001074011 Q8TES7 FBF1_HUMAN Fas (TNFRSF6) binding factor 1 758 0 GGTGCGAGGCCTCCACGCGGG 0.657 NaN 1 0 1.42536e-11 0.004656 1.5885e-11 24 43 C17orf56 146705 broad.mit.edu 37 17 79207838 79207838 + Silent SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr17:79207838C>G uc002jzu.1 - 5 340 c.318G>C c.(316-318)GGG>GGC p.G106G C17orf56_uc002jzr.1_5'Flank|C17orf56_uc002jzs.1_5'UTR|C17orf56_uc002jzt.1_5'UTR|C17orf56_uc002jzv.1_5'UTR NM_144679 NP_653280 Q96N21 CQ056_HUMAN hypothetical protein LOC146705 106 integral to membrane 0 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) GATCTGGGGGCCCTGCAAAAG 0.677 NaN 0 0 0 0.00623 0 32 29 P4HB 5034 broad.mit.edu 37 17 79801895 79801895 + Missense_Mutation SNP T T C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr17:79801895T>C uc002kbn.1 - 11 1717 c.1520A>G c.(1519-1521)GAA>GGA p.E507G P4HB_uc002kbl.1_Missense_Mutation_p.E184G|P4HB_uc002kbm.1_Missense_Mutation_p.E184G NM_000918 NP_000909 P07237 PDIA1_HUMAN prolyl 4-hydroxylase, beta subunit precursor 507 Prevents secretion from ER. cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509) GTATTACAGTTCATCTTTCAC 0.612 NaN 0 0 0 0.01441 0 193 130 DSC2 1824 broad.mit.edu 37 18 28669557 28669557 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr18:28669557C>G uc002kwl.3 - 5 929 c.475G>C c.(475-477)GTT>CTT p.V159L DSC2_uc002kwk.3_Missense_Mutation_p.V159L NM_024422 NP_077740 Q02487 DSC2_HUMAN desmocollin 2 isoform Dsc2a preproprotein 159 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion desmosome|integral to membrane calcium ion binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(10;0.0241) TCAGATTGAACCTAGAAAGTA 0.328 NaN 0 0 0 0.004007 0 15 20 DSC1 1823 broad.mit.edu 37 18 28720107 28720107 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr18:28720107G>A uc002kwn.2 - 10 1680 c.1418C>T c.(1417-1419)CCT>CTT p.P473L DSC1_uc002kwm.2_Missense_Mutation_p.P473L NM_024421 NP_077739 Q08554 DSC1_HUMAN desmocollin 1 isoform Dsc1a preproprotein 473 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(10;0.00778) TTTCACTGGAGGGTGGCATTC 0.473 NaN 0 0 0 0.01441 0 52 61 KLHL14 57565 broad.mit.edu 37 18 30350069 30350069 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr18:30350069C>A uc002kxm.1 - 2 874 c.486G>T c.(484-486)AAG>AAT p.K162N NM_020805 NP_065856 Q9P2G3 KLH14_HUMAN kelch-like 14 162 cytosol|endoplasmic reticulum membrane ovary(1) 1 TGTGCAGGATCTTGCTGACCG 0.622 NaN 1 0 2.73361e-28 0.01441 3.55306e-28 65 74 KLHL14 57565 broad.mit.edu 37 18 30350105 30350105 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr18:30350105G>A uc002kxm.1 - 2 838 c.450C>T c.(448-450)TCC>TCT p.S150S NM_020805 NP_065856 Q9P2G3 KLH14_HUMAN kelch-like 14 150 BTB. cytosol|endoplasmic reticulum membrane ovary(1) 1 CCGTGTCCAGGGACAGGGTCA 0.642 NaN 0 0 0 0.01441 0 70 102 CELF4 56853 broad.mit.edu 37 18 34852990 34852990 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr18:34852990G>T uc002lae.2 - 7 1334 c.938C>A c.(937-939)ACC>AAC p.T313N CELF4_uc010dnd.1_Missense_Mutation_p.T311N|CELF4_uc002lag.2_Missense_Mutation_p.T303N|CELF4_uc002laf.2_Missense_Mutation_p.T308N|CELF4_uc002lai.2_Missense_Mutation_p.T298N|CELF4_uc002lah.1_Missense_Mutation_p.T38N|CELF4_uc002laj.1_Missense_Mutation_p.D148E NM_020180 NP_064565 Q9BZC1 CELF4_HUMAN bruno-like 4, RNA binding protein isoform 1 313 embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding ovary(2) 2 TGAGGTTGGGGTCATAGGTGC 0.662 NaN 1 0 6.21074e-16 0.011902 7.24152e-16 40 36 ST8SIA3 51046 broad.mit.edu 37 18 55024154 55024154 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr18:55024154C>A uc002lgn.2 + 3 670 c.313C>A c.(313-315)CTT>ATT p.L105I NM_015879 NP_056963 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide 105 Lumenal (Potential). glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(1)|skin(1) 2 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) GCAAGAAATTCTTCAGCATGT 0.318 NaN 1 0 5.35047e-06 0.01892 5.52982e-06 24 21 SHD 56961 broad.mit.edu 37 19 4280064 4280064 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:4280064G>A uc002lzw.2 + 1 1467 c.4G>A c.(4-6)GCC>ACC p.A2T SHD_uc010dtu.2_Missense_Mutation_p.A2T NM_020209 NP_064594 Q96IW2 SHD_HUMAN Src homology 2 domain containing transforming 2 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18) CGCCCAAATGGCCAAGTGGCT 0.607 NaN 0 0 0 0.004482 0 8 1 LONP1 9361 broad.mit.edu 37 19 5693378 5693379 + Missense_Mutation DNP GG GG TC TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:5693378_5693379GG>TC uc002mcx.2 - 17 2666_2667 c.2633_2634CC>GA c.(2632-2634)GCC>GGA p.A878G LONP1_uc002mcy.2_Missense_Mutation_p.A814G|LONP1_uc010duh.2_Missense_Mutation_p.A619G|LONP1_uc010dui.2_Missense_Mutation_p.A862G|LONP1_uc002mcz.2_Missense_Mutation_p.A682G NM_004793 NP_004784 P36776 LONM_HUMAN mitochondrial lon peptidase 1 precursor 878 cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding 0 CGCCAGTCATGGCCAGATTCTG 0.649 NaN 0 0 0 0.004672 0 61 11 FUT5 2527 broad.mit.edu 37 19 5866680 5866680 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:5866680C>T uc002mdo.3 - 2 1145 c.1057G>A c.(1057-1059)GCC>ACC p.A353T FUT5_uc010duo.2_Missense_Mutation_p.A353T NM_002034 NP_002025 Q11128 FUT5_HUMAN fucosyltransferase 5 353 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity 0 TTCCAGCAGGCCTTGCAGAAA 0.652 NaN 0 0 0 0.010771 0 39 7 C3 718 broad.mit.edu 37 19 6696452 6696452 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:6696452G>T uc002mfm.2 - 23 2950 c.2888C>A c.(2887-2889)CCA>CAA p.P963Q NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 963 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding skin(3)|ovary(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) GTCTGCAGGTGGGATGTCCTC 0.572 NaN 1 0 4.4194e-11 0.013726 4.87628e-11 36 22 VAV1 7409 broad.mit.edu 37 19 6828657 6828657 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:6828657G>T uc002mfu.1 + 12 1214 c.1117G>T c.(1117-1119)GTC>TTC p.V373F VAV1_uc010xjh.1_Missense_Mutation_p.V341F|VAV1_uc010dva.1_Missense_Mutation_p.V373F|VAV1_uc002mfv.1_Missense_Mutation_p.V318F NM_005428 NP_005419 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 373 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1) 16 CGTGAACGAGGTCAAGCGAGA 0.632 NaN 1 0 1.36615e-20 0.013726 1.67007e-20 33 520 FBN3 84467 broad.mit.edu 37 19 8176067 8176067 + Missense_Mutation SNP T T C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:8176067T>C uc002mjf.2 - 32 4106 c.4085A>G c.(4084-4086)GAC>GGC p.D1362G NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 1362 EGF-like 21; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 TTCATCCCTGTCTGAGGGGCC 0.637 NaN 0 0 0 0.005524 0 35 197 MYO1F 4542 broad.mit.edu 37 19 8609325 8609325 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:8609325G>A uc002mkg.2 - 14 1494 c.1380C>T c.(1378-1380)GTC>GTT p.V460V NM_012335 NP_036467 O00160 MYO1F_HUMAN myosin IF 460 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(1) 3 CGTCGTCCAAGACGCTCATGA 0.657 NaN 0 0 0 0.019004 0 35 115 MUC16 94025 broad.mit.edu 37 19 9001859 9001859 + Silent SNP T T C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:9001859T>C uc002mkp.2 - 53 40593 c.40389A>G c.(40387-40389)AGA>AGG p.R13463R MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.R280R|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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 AGGCTGGAGTTCTCGAGGTTG 0.478 NaN 0 0 0 0.013537 0 8 39 MUC16 94025 broad.mit.edu 37 19 9016999 9016999 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:9016999G>A uc002mkp.2 - 27 38200 c.37996C>T c.(37996-37998)CCT>TCT p.P12666S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12668 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 GTGGGCACAGGGATCCAATGG 0.537 NaN 0 0 0 0.005443 0 25 141 MUC16 94025 broad.mit.edu 37 19 9057120 9057120 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:9057120G>T uc002mkp.2 - 3 30530 c.30326C>A c.(30325-30327)ACC>AAC p.T10109N NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 10111 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 AGAACTGGTGGTTCCCACATT 0.488 NaN 1 0 2.87052e-16 0.005524 3.36816e-16 38 186 MUC16 94025 broad.mit.edu 37 19 9058002 9058002 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:9058002G>T uc002mkp.2 - 3 29648 c.29444C>A c.(29443-29445)GCC>GAC p.A9815D NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 9817 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 CCTCACTTTGGCCACCGCTGT 0.458 NaN 1 0 1.08321e-29 0.01441 1.43138e-29 73 138 MUC16 94025 broad.mit.edu 37 19 9068085 9068085 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:9068085G>A uc002mkp.2 - 3 19565 c.19361C>T c.(19360-19362)GCG>GTG p.A6454V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 6456 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 CTGTGATGTCGCCCTATGAGG 0.498 NaN 0 0 0 0.01441 0 91 433 MUC16 94025 broad.mit.edu 37 19 9086125 9086125 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:9086125G>T uc002mkp.2 - 1 5894 c.5690C>A c.(5689-5691)ACT>AAT p.T1897N NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1897 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 CTCTGTGTAAGTCATGGAAGT 0.488 NaN 1 0 2.27525e-19 0.021523 2.73919e-19 25 109 MUC16 94025 broad.mit.edu 37 19 9090068 9090068 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:9090068C>G uc002mkp.2 - 1 1951 c.1747G>C c.(1747-1749)GAA>CAA p.E583Q NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 583 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 GATGTTTCTTCAAGCCAAATC 0.532 NaN 0 0 0 0.01441 0 104 28 ZNF846 162993 broad.mit.edu 37 19 9868990 9868990 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:9868990C>T uc002mmb.1 - 6 1294 c.763G>A c.(763-765)GTC>ATC p.V255I ZNF846_uc010xky.1_RNA|ZNF846_uc010xkz.1_RNA|ZNF846_uc010dww.2_Missense_Mutation_p.V126I|ZNF846_uc002mmc.1_Missense_Mutation_p.V126I NM_001077624 NP_001071092 Q147U1 ZN846_HUMAN zinc finger protein 846 255 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TCTTTACAGACATAGGGCTTC 0.393 NaN 0 0 0 0.01441 0 47 107 OLFM2 93145 broad.mit.edu 37 19 9968097 9968097 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:9968097G>A uc002mmp.2 - 4 450 c.422C>T c.(421-423)GCA>GTA p.A141V OLFM2_uc002mmo.2_Missense_Mutation_p.A63V NM_058164 NP_477512 O95897 NOE2_HUMAN olfactomedin 2 precursor 141 Potential. extracellular region large_intestine(1)|skin(1) 2 CCGCGTGTCTGCCTTGTACTG 0.597 NaN 0 0 0 0.01441 0 40 146 C19orf52 90580 broad.mit.edu 37 19 11040151 11040151 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:11040151G>T uc002mqd.1 + 2 631 c.556G>T c.(556-558)GAC>TAC p.D186Y YIPF2_uc002mqb.2_5'Flank|YIPF2_uc002mqc.2_5'Flank NM_138358 NP_612367 Q9BSF4 CS052_HUMAN hypothetical protein LOC90580 186 0 CGACATCAACGACGACGAATT 0.672 NaN 1 0 3.45148e-53 0.01441 4.87423e-53 100 40 SMARCA4 6597 broad.mit.edu 37 19 11143966 11143966 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:11143966G>C uc002mqf.3 + 26 3831 c.3547G>C c.(3547-3549)GAC>CAC p.D1183H SMARCA4_uc010dxp.2_Missense_Mutation_p.D1183H|SMARCA4_uc010dxo.2_Missense_Mutation_p.D1183H|SMARCA4_uc010dxq.2_Missense_Mutation_p.D1183H|SMARCA4_uc010dxr.2_Missense_Mutation_p.D1183H|SMARCA4_uc002mqj.3_Missense_Mutation_p.D1183H|SMARCA4_uc010dxs.2_Missense_Mutation_p.D1183H|SMARCA4_uc010dxt.1_Missense_Mutation_p.D403H|SMARCA4_uc002mqh.3_Missense_Mutation_p.D306H|SMARCA4_uc002mqi.1_Missense_Mutation_p.D386H NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 1183 Helicase C-terminal. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) CTTCCCCCAGGACCTGCAAGC 0.627 NaN F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 0 0 0 0.01441 0 107 48 ZNF653 115950 broad.mit.edu 37 19 11609127 11609127 + Silent SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:11609127C>T uc002mrz.1 - 2 380 c.327G>A c.(325-327)AAG>AAA p.K109K NM_138783 NP_620138 Q96CK0 ZN653_HUMAN zinc finger protein 653 109 Nuclear localization signal (Potential). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TCCGCTTTGGCTTTTTGGGGA 0.498 NaN 0 0 0 0.01441 0 138 514 ZNF878 729747 broad.mit.edu 37 19 12167103 12167103 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:12167103G>C uc002mta.1 - 1 25 c.25C>G c.(25-27)CTG>GTG p.L9V NM_001080404 NP_001073873 C9JN71 ZN878_HUMAN zinc finger protein 878 Error:Variant_position_missing_in_C9JN71_after_alignment regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 TACAACCCCAGATAGGACAGA 0.562 NaN 0 0 0 0.014758 0 4 4 NANOS3 342977 broad.mit.edu 37 19 13988397 13988397 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:13988397G>A uc002mxj.3 + 1 448 c.335G>A c.(334-336)TGT>TAT p.C112Y NM_001098622 NP_001092092 P60323 NANO3_HUMAN nanos homolog 3 93 C2HC 2.|Nanos-type. anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis cytoplasmic mRNA processing body|nucleus|stress granule RNA binding|zinc ion binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(19;2e-21) GACTACGTGTGTCCCCAGTGC 0.647 NaN 0 0 0 0.008361 0 30 27 CCDC105 126402 broad.mit.edu 37 19 15121757 15121757 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:15121757G>A uc002nae.2 + 1 219 c.120G>A c.(118-120)GGG>GGA p.G40G SLC1A6_uc010xod.1_5'Flank NM_173482 NP_775753 Q8IYK2 CC105_HUMAN coiled-coil domain containing 105 40 microtubule cytoskeleton organization microtubule ovary(1) 1 ATCGCTGCGGGCAGGAGGCGG 0.711 NaN 0 0 0 0.001984 0 5 12 AKAP8L 26993 broad.mit.edu 37 19 15491178 15491178 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:15491178C>G uc002naw.1 - 14 1795 c.1696G>C c.(1696-1698)GCC>CCC p.A566P AKAP8_uc002nav.2_5'Flank|AKAP8_uc010xog.1_5'Flank|AKAP8L_uc002nax.1_RNA|AKAP8L_uc010xoh.1_Missense_Mutation_p.A505P NM_014371 NP_055186 Q9ULX6 AKP8L_HUMAN A kinase (PRKA) anchor protein 8-like 566 EEEKEQEEAEGGALDEGAQGEAAGISEGAEGVPAQPPVPPE PA -> RRRRSRRRLRAVPWTRGRRAKRQGFRRAQRACRRS LPCPQSQP (in Ref. 3; AAF86048). cytoplasm|nuclear matrix DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding ovary(1) 1 TCGTCCAGGGCACCGCCCTCA 0.741 NaN 0 0 0 0.001984 0 7 7 PIK3R2 5296 broad.mit.edu 37 19 18273235 18273235 + Missense_Mutation SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:18273235A>G uc002nia.1 + 9 1540 c.1028A>G c.(1027-1029)AAA>AGA p.K343R PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA NM_005027 NP_005018 O00459 P85B_HUMAN phosphoinositide-3-kinase, regulatory subunit 2 343 SH2 1. fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1) 6 GTGAACGAGAAACTCCGGGAC 0.627 NaN 0 0 0 0.007413 0 17 38 ZNF682 91120 broad.mit.edu 37 19 20117916 20117916 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:20117916C>A uc002noq.2 - 4 518 c.395G>T c.(394-396)GGA>GTA p.G132V ZNF682_uc002noo.2_Missense_Mutation_p.G100V|ZNF682_uc002nop.2_Missense_Mutation_p.G100V|ZNF682_uc010eck.2_Missense_Mutation_p.G56V NM_033196 NP_149973 O95780 ZN682_HUMAN zinc finger protein 682 isoform 1 132 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 TTGGTTAAGTCCATTATAAAT 0.323 NaN 1 0 2.4375e-19 0.007291 2.92816e-19 28 43 KIAA0355 9710 broad.mit.edu 37 19 34832392 34832392 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:34832392C>A uc002nvd.3 + 10 2412 c.1553C>A c.(1552-1554)GCT>GAT p.A518D NM_014686 NP_055501 O15063 K0355_HUMAN hypothetical protein LOC9710 518 ovary(1) 1 Esophageal squamous(110;0.162) GGCAACCAGGCTGACCTGCCT 0.428 NaN 1 0 1.27862e-28 0.01441 1.66973e-28 55 57 PRODH2 58510 broad.mit.edu 37 19 36303753 36303753 + Silent SNP C C G rs142806923 byFrequency TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:36303753C>G uc002obx.1 - 2 201 c.183G>C c.(181-183)CTG>CTC p.L61L NM_021232 NP_067055 Q9UF12 PROD2_HUMAN kidney and liver proline oxidase 1 61 glutamate biosynthetic process|proline catabolic process proline dehydrogenase activity ovary(2) 2 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TCTCTGGAGGCAGCAAGTTCA 0.587 NaN 0 0 0 0.006122 0 19 20 APLP1 333 broad.mit.edu 37 19 36365745 36365745 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:36365745G>A uc002oce.2 + 10 1456 c.1318G>A c.(1318-1320)GAG>AAG p.E440K APLP1_uc010xsz.1_Missense_Mutation_p.E401K|APLP1_uc002ocf.2_Missense_Mutation_p.E440K|APLP1_uc002ocg.2_Missense_Mutation_p.E343K|APLP1_uc010xta.1_Missense_Mutation_p.E434K NM_005166 NP_005157 P51693 APLP1_HUMAN amyloid precursor-like protein 1 isoform 2 440 Extracellular (Potential).|Heparin-binding (By similarity). apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding ovary(2) 2 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CGTGGATCCCGAGAAGGCACA 0.642 NaN 0 0 0 0.005443 0 25 26 FAM98C 147965 broad.mit.edu 37 19 38896273 38896273 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:38896273G>C uc002oin.1 + 6 767 c.748G>C c.(748-750)GAG>CAG p.E250Q FAM98C_uc002oio.1_Missense_Mutation_p.E224Q|FAM98C_uc010xtz.1_Intron NM_174905 NP_777565 Q17RN3 FA98C_HUMAN hypothetical protein LOC147965 250 skin(1) 1 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TGACCGGGCAGAGGTGTGGTG 0.607 NaN 0 0 0 0.004656 0 23 36 LRFN1 57622 broad.mit.edu 37 19 39804639 39804639 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:39804639C>A uc002okw.2 - 1 1338 c.1338G>T c.(1336-1338)AGG>AGT p.R446S NM_020862 NP_065913 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III 446 Fibronectin type-III.|Extracellular (Potential). cell junction|integral to membrane|postsynaptic density|postsynaptic membrane ovary(2) 2 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) CGGGCACAGGCCTCTGGGCTG 0.647 NaN 1 0 2.32078e-09 0.003163 2.49619e-09 16 39 CEACAM4 1089 broad.mit.edu 37 19 42132180 42132180 + Silent SNP T T A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:42132180T>A uc002orh.1 - 2 330 c.219A>T c.(217-219)GCA>GCT p.A73A CEACAM4_uc010xwd.1_Silent_p.A73A NM_001817 NP_001808 O75871 CEAM4_HUMAN carcinoembryonic antigen-related cell adhesion 73 Extracellular (Potential).|Ig-like V-type. integral to plasma membrane|membrane fraction 0 GGCTCCCTTCTGCCGTTTTCC 0.493 NaN 0 0 0 0.01441 0 87 54 ZNF225 7768 broad.mit.edu 37 19 44636769 44636769 + Nonsense_Mutation SNP A A T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:44636769A>T uc002oyj.1 + 5 2245 c.2002A>T c.(2002-2004)AAA>TAA p.K668* ZNF225_uc010eje.1_Nonsense_Mutation_p.K585*|ZNF225_uc010ejf.1_Nonsense_Mutation_p.K668* NM_013362 NP_037494 Q9UK10 ZN225_HUMAN zinc finger protein 225 668 C2H2-type 18; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352)|all_neural(266;0.202) TTCATGCCTTAAAGACCAACA 0.443 NaN 0 0 0 0.016522 0 23 9 ERCC2 2068 broad.mit.edu 37 19 45860917 45860917 + Silent SNP C C G rs148469762 byFrequency TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:45860917C>G uc002pbj.2 - 13 1325 c.1278G>C c.(1276-1278)CCG>CCC p.P426P ERCC2_uc002pbh.2_5'UTR|ERCC2_uc002pbi.2_Silent_p.P119P|ERCC2_uc010ejz.2_Silent_p.P348P|ERCC2_uc002pbk.2_Silent_p.P402P NM_000400 NP_000391 P18074 ERCC2_HUMAN excision repair cross-complementing rodent 426 cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding lung(2)|pancreas(1) 3 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) TGGCAATGGTCGGGGTTCTGT 0.642 NaN Mis|N|F|S skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 0 0 0 0.013537 0 12 52 TMEM143 55260 broad.mit.edu 37 19 48845927 48845927 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:48845927C>G uc002pix.1 - 6 844 c.835G>C c.(835-837)GCC>CCC p.A279P TMEM143_uc002piw.1_Intron|TMEM143_uc002piy.1_Missense_Mutation_p.A244P|TMEM143_uc010xzn.1_Missense_Mutation_p.A214P|TMEM143_uc010elw.1_Missense_Mutation_p.A179P|TMEM143_uc010xzo.1_Missense_Mutation_p.A69P NM_018273 NP_060743 Q96AN5 TM143_HUMAN transmembrane protein 143 279 integral to membrane|mitochondrion 0 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157) TTGAGCAGGGCGCGCTGCAGG 0.642 NaN 0 0 0 0.005524 0 35 24 TMEM143 55260 broad.mit.edu 37 19 48846055 48846055 + Missense_Mutation SNP T T G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:48846055T>G uc002pix.1 - 6 716 c.707A>C c.(706-708)AAG>ACG p.K236T TMEM143_uc002piw.1_Intron|TMEM143_uc002piy.1_Missense_Mutation_p.K201T|TMEM143_uc010xzn.1_Missense_Mutation_p.K171T|TMEM143_uc010elw.1_Missense_Mutation_p.K136T|TMEM143_uc010xzo.1_Missense_Mutation_p.K26T|TMEM143_uc010xzp.1_3'UTR|TMEM143_uc010xzq.1_3'UTR NM_018273 NP_060743 Q96AN5 TM143_HUMAN transmembrane protein 143 236 integral to membrane|mitochondrion 0 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157) GACCACCCGCTTAAAGTATCT 0.627 NaN 0 0 0 0.009535 0 26 16 KCNJ14 3770 broad.mit.edu 37 19 48965180 48965180 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:48965180G>A uc002pje.1 + 2 604 c.199G>A c.(199-201)GGT>AGT p.G67S KCNJ14_uc002pjf.1_Missense_Mutation_p.G67S NM_013348 NP_037480 Q9UNX9 IRK14_HUMAN potassium inwardly-rectifying channel J14 67 Cytoplasmic (By similarity). voltage-gated potassium channel complex inward rectifier potassium channel activity skin(1) 1 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222) CGTAAACCTGGGTGGCCAGGG 0.677 NaN 0 0 0 0.00499 0 17 11 TULP2 7288 broad.mit.edu 37 19 49385331 49385331 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:49385331G>A uc002pkz.2 - 12 1556 c.1405C>T c.(1405-1407)CGG>TGG p.R469W NM_003323 NP_003314 O00295 TULP2_HUMAN tubby like protein 2 469 visual perception cytoplasm|extracellular region ovary(1)|kidney(1)|skin(1) 3 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234) ACCGAAGCCCGAGTGACTCGA 0.547 NaN 0 0 0 0.006122 0 16 81 TEAD2 8463 broad.mit.edu 37 19 49863219 49863219 + Silent SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:49863219G>T uc002pnj.2 - 2 205 c.114C>A c.(112-114)GGC>GGA p.G38G TEAD2_uc002png.2_Silent_p.G38G|TEAD2_uc002pnh.2_Silent_p.G38G|TEAD2_uc002pni.2_Silent_p.G38G|TEAD2_uc010yao.1_Intron|TEAD2_uc010emw.2_Silent_p.G38G NM_003598 NP_003589 Q15562 TEAD2_HUMAN TEA domain family member 2 38 hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|ovary(1) 3 all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467) CTGCATCCGGGCCCCCGTCAC 0.677 NaN 1 0 1.1397e-45 0.01441 1.57347e-45 74 32 C19orf41 126123 broad.mit.edu 37 19 50657922 50657922 + Silent SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:50657922C>T uc002prp.1 - 6 645 c.558G>A c.(556-558)CAG>CAA p.Q186Q NM_152358 NP_689571 Q6UXV1 IZUM2_HUMAN hypothetical protein LOC126123 precursor 186 Extracellular (Potential). integral to membrane 0 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00364)|OV - Ovarian serous cystadenocarcinoma(262;0.0052) CCAACAGCGCCTGGTTCCTCG 0.622 NaN 0 0 0 0.016522 0 21 78 KLK15 55554 broad.mit.edu 37 19 51329189 51329189 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:51329189G>A uc002ptl.2 - 5 665 c.634C>T c.(634-636)CCC>TCC p.P212S KLK1_uc002ptk.1_5'Flank|KLK1_uc010ycg.1_5'Flank|KLK15_uc002ptm.2_Missense_Mutation_p.P127S|KLK15_uc002ptn.2_3'UTR|KLK15_uc002pto.2_Missense_Mutation_p.P211S|KLK15_uc010ych.1_RNA|KLK15_uc010yci.1_3'UTR|KLK15_uc010eod.2_RNA NM_017509 NP_059979 Q9H2R5 KLK15_HUMAN kallikrein-related peptidase 15 isoform 4 212 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity lung(1)|breast(1) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143) CAGACCAGGGGTCCCCCAGAG 0.542 NaN 0 0 0 0.017118 0 33 19 UBE2S 27338 broad.mit.edu 37 19 55915730 55915730 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:55915730C>A uc002qkx.1 - 3 636 c.268G>T c.(268-270)GCC>TCC p.A90S NM_014501 NP_055316 Q16763 UBE2S_HUMAN ubiquitin-conjugating enzyme E2S 90 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination anaphase-promoting complex ATP binding|ubiquitin-protein ligase activity 0 Breast(117;0.155) LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.11) TCGCCATTGGCGCCCACGTTC 0.617 NaN 1 0 2.37825e-27 0.010771 3.05539e-27 32 22 ZNF773 374928 broad.mit.edu 37 19 58018245 58018245 + Missense_Mutation SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:58018245A>G uc002qox.2 + 4 922 c.782A>G c.(781-783)GAC>GGC p.D261G ZNF547_uc002qpm.3_Intron|ZNF773_uc002qoy.2_Missense_Mutation_p.D260G|ZNF773_uc002qoz.2_Intron NM_198542 NP_940944 Q6PK81 ZN773_HUMAN zinc finger protein 773 261 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254) CGTAATGCTGACCTCATTCAA 0.418 NaN 0 0 0 0.01892 0 24 71 SNTG2 54221 broad.mit.edu 37 2 1168818 1168818 + Silent SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:1168818C>T uc002qwq.2 + 8 668 c.540C>T c.(538-540)TCC>TCT p.S180S SNTG2_uc010ewi.2_Intron NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 180 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) GTGGGGCCTCCTCTCCCCTCT 0.473 NaN 0 0 0 0.01441 0 113 18 PXDN 7837 broad.mit.edu 37 2 1652481 1652481 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:1652481G>T uc002qxa.2 - 17 3135 c.3071C>A c.(3070-3072)GCG>GAG p.A1024E NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 1024 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CTGGATCTCCGCACCCACGAT 0.622 NaN 1 0 3.86212e-05 0.008291 3.94747e-05 11 0 GEN1 348654 broad.mit.edu 37 2 17962140 17962140 + Missense_Mutation SNP A A C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:17962140A>C uc002rct.2 + 14 1734 c.1661A>C c.(1660-1662)CAG>CCG p.Q554P SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.Q554P|GEN1_uc002rcu.2_Missense_Mutation_p.Q554P NM_182625 NP_872431 Q17RS7 GEN_HUMAN Gen homolog 1, endonuclease 554 DNA repair nucleus DNA binding|endonuclease activity|metal ion binding breast(5)|kidney(1)|central_nervous_system(1)|skin(1) 8 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TTGGCTATACAGCAAATTAAA 0.363 NaN Homologous_recombination 0 0 0 0.010818 0 33 2 BIRC6 57448 broad.mit.edu 37 2 32715215 32715215 + Missense_Mutation SNP A A C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:32715215A>C uc010ezu.2 + 43 8337 c.8203A>C c.(8203-8205)AAT>CAT p.N2735H NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 2735 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) CATGCAGCTTAATTGTAAGTT 0.358 NaN 0 0 0 0.01441 0 67 7 OXER1 165140 broad.mit.edu 37 2 42990186 42990186 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:42990186G>A uc002rss.2 - 1 1216 c.1134C>T c.(1132-1134)GGC>GGT p.G378G NM_148962 NP_683765 Q8TDS5 OXER1_HUMAN G-protein coupled receptor TG1019 378 Cytoplasmic (Potential). regulation of cAMP biosynthetic process integral to membrane|plasma membrane 5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity breast(1) 1 CGCTCACTGGGCCCTGCCGGC 0.662 NaN 0 0 0 0.01441 0 51 2 MSH2 4436 broad.mit.edu 37 2 47702220 47702220 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:47702220G>T uc002rvy.1 + 12 1884 c.1816G>T c.(1816-1818)GTC>TTC p.V606F MSH2_uc010yoh.1_Missense_Mutation_p.V540F|MSH2_uc002rvz.2_Missense_Mutation_p.V606F|MSH2_uc010fbg.2_Missense_Mutation_p.V416F|MSH2_uc010fbi.1_RNA NM_000251 NP_000242 P43246 MSH2_HUMAN mutS homolog 2 606 Interaction with EXO1. B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes MutSalpha complex|MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding p.?(2) large_intestine(33)|haematopoietic_and_lymphoid_tissue(6)|endometrium(4)|ovary(3)|cervix(2)|central_nervous_system(2)|stomach(1)|small_intestine(1)|breast(1)|skin(1)|prostate(1) 55 all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AGATGCTGTTGTCAGCTTTGC 0.393 NaN D|Mis|N|F|S colorectal|endometrial|ovarian colorectal|endometrial|ovarian MMR Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 1 0 3.4345e-17 0.011902 4.07296e-17 44 7 FAM161A 84140 broad.mit.edu 37 2 62081096 62081096 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:62081096G>A uc010ypo.1 - 1 183 c.81C>T c.(79-81)GTC>GTT p.V27V FAM161A_uc002sbm.3_Silent_p.V27V|FAM161A_uc002sbn.3_5'UTR|FAM161A_uc010fcm.1_RNA|FAM161A_uc010fcn.1_5'UTR NM_032180 NP_115556 Q3B820 F161A_HUMAN hypothetical protein LOC84140 27 response to stimulus|visual perception centrosome large_intestine(2)|ovary(1) 3 CGTACTGGGCGACCCGCGCTC 0.667 NaN 0 0 0 0.006122 0 18 6 ASTL 431705 broad.mit.edu 37 2 96798412 96798412 + Silent SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:96798412C>A uc010yui.1 - 6 504 c.504G>T c.(502-504)CTG>CTT p.L168L NM_001002036 NP_001002036 Q6HA08 ASTL_HUMAN astacin-like metalloendopeptidase precursor 168 proteolysis metalloendopeptidase activity|zinc ion binding 0 ACGTGGGCGCCAGGGAGACCA 0.652 NaN 1 0 5.34276e-22 0.01441 6.63362e-22 46 88 TMEM131 23505 broad.mit.edu 37 2 98422040 98422040 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:98422040C>T uc002syh.3 - 20 2411 c.2182G>A c.(2182-2184)GAC>AAC p.D728N NM_015348 NP_056163 Q92545 TM131_HUMAN RW1 protein 728 integral to membrane ovary(4)|central_nervous_system(2) 6 GGCTCCAAGTCTTCCTTATTG 0.343 NaN 0 0 0 0.01441 0 75 102 SLC9A4 389015 broad.mit.edu 37 2 103120009 103120009 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:103120009C>A uc002tbz.3 + 3 1280 c.823C>A c.(823-825)CTT>ATT p.L275I NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN solute carrier family 9 (sodium/hydrogen 275 Helical; Name=H/M6; (Potential). regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity skin(2)|central_nervous_system(1) 3 CGTTGTGGGGCTTGGAGGGGT 0.388 NaN 1 0 5.35047e-06 0.01892 5.52982e-06 22 32 PSD4 23550 broad.mit.edu 37 2 113941042 113941042 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:113941042G>C uc002tjc.2 + 2 1192 c.1009G>C c.(1009-1011)GCC>CCC p.A337P PSD4_uc002tjd.2_5'UTR|PSD4_uc002tje.2_Missense_Mutation_p.A336P|PSD4_uc002tjf.2_5'Flank NM_012455 NP_036587 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 337 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity ovary(2) 2 CTCAGTGGCTGCCGCTGAGGG 0.617 NaN 0 0 0 0.009535 0 29 32 INHBB 3625 broad.mit.edu 37 2 121107164 121107164 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:121107164G>C uc002tmn.2 + 2 984 c.938G>C c.(937-939)CGC>CCC p.R313P NM_002193 NP_002184 P09529 INHBB_HUMAN inhibin beta B subunit preproprotein 313 activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation extracellular region|perinuclear region of cytoplasm cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity pancreas(2)|skin(1) 3 Prostate(154;0.122) ATTGACTTCCGCCTCATCGGC 0.632 NaN 0 0 0 0.01441 0 71 91 BIN1 274 broad.mit.edu 37 2 127821519 127821519 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:127821519G>A uc002tns.1 - 8 1033 c.688C>T c.(688-690)CTG>TTG p.L230L BIN1_uc010yzf.1_Silent_p.L175L|BIN1_uc010yzg.1_Silent_p.L230L|BIN1_uc002tnu.1_Silent_p.L199L|BIN1_uc002toa.1_Silent_p.L199L|BIN1_uc002tnt.1_Silent_p.L199L|BIN1_uc002tnv.1_Silent_p.L230L|BIN1_uc002tnw.1_Silent_p.L199L|BIN1_uc002tnx.1_Silent_p.L199L|BIN1_uc002tny.1_Silent_p.L230L|BIN1_uc002tnz.1_Silent_p.L199L|BIN1_uc002tob.1_Silent_p.L199L|BIN1_uc002toc.1_Silent_p.L199L NM_139343 NP_647593 O00499 BIN1_HUMAN bridging integrator 1 isoform 1 230 BAR.|Potential. cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development actin cytoskeleton|nucleus ovary(2)|central_nervous_system(2)|skin(2)|lung(1) 7 Colorectal(110;0.0831) BRCA - Breast invasive adenocarcinoma(221;0.073) CTGTTCCACAGGGACGGCAGC 0.652 NaN 0 0 0 0.01441 0 51 48 IMP4 92856 broad.mit.edu 37 2 131103212 131103212 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:131103212G>T uc002tra.1 + 5 396 c.379G>T c.(379-381)GCC>TCC p.A127S NM_033416 NP_219484 Q96G21 IMP4_HUMAN IMP4, U3 small nucleolar ribonucleoprotein, 127 Brix. rRNA processing|translation nucleolus|ribonucleoprotein complex aminoacyl-tRNA ligase activity|ATP binding|protein binding central_nervous_system(2) 2 Colorectal(110;0.1) ACTGGTGCGAGCCTGCAAAGC 0.647 NaN 1 0 1.26454e-06 0.005443 1.31674e-06 27 34 FAM123C 205147 broad.mit.edu 37 2 131521341 131521341 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:131521341C>G uc002trw.2 + 2 1886 c.1696C>G c.(1696-1698)CAG>GAG p.Q566E FAM123C_uc010fmv.2_Missense_Mutation_p.Q566E|FAM123C_uc010fms.1_Missense_Mutation_p.Q566E|FAM123C_uc010fmt.1_Missense_Mutation_p.Q566E|FAM123C_uc010fmu.1_Missense_Mutation_p.Q566E NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 566 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) ACCCAGCAGGCAGGAGCTGTG 0.692 NaN 0 0 0 0.010504 0 19 26 TUBA3D 113457 broad.mit.edu 37 2 132235813 132235813 + Missense_Mutation SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:132235813A>G uc002tsu.3 + 2 187 c.80A>G c.(79-81)GAA>GGA p.E27G NM_080386 NP_525125 Q13748 TBA3C_HUMAN tubulin, alpha 3d 27 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(221;0.13) TACTGCCTTGAACATGGAATT 0.532 NaN 0 0 0 0.01441 0 53 97 THSD7B 80731 broad.mit.edu 37 2 138414682 138414682 + Missense_Mutation SNP A A T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:138414682A>T uc002tva.1 + 23 4240 c.4240A>T c.(4240-4242)AAC>TAC p.N1414Y THSD7B_uc010zbj.1_RNA 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) TTGGAACAATAACGAACGAAC 0.418 NaN 0 0 0 0.013726 0 30 36 ARHGAP15 55843 broad.mit.edu 37 2 143959730 143959730 + Nonsense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:143959730C>T uc002tvm.3 + 3 344 c.193C>T c.(193-195)CAG>TAG p.Q65* ARHGAP15_uc010zbl.1_Nonsense_Mutation_p.Q65* NM_018460 NP_060930 Q53QZ3 RHG15_HUMAN ARHGAP15 65 regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.151) GAATCATTCACAGCATATCTT 0.244 NaN 0 0 0 0.009535 0 25 53 DPP4 1803 broad.mit.edu 37 2 162865119 162865119 + Missense_Mutation SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:162865119A>G uc002ubz.2 - 22 2501 c.1940T>C c.(1939-1941)TTC>TCC p.F647S DPP4_uc010fpb.2_Missense_Mutation_p.F323S NM_001935 NP_001926 P27487 DPP4_HUMAN dipeptidylpeptidase IV 647 Extracellular (Potential). cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity ovary(3) 3 Sitagliptin(DB01261) TCCACACTTGAACACGCCACT 0.463 NaN 0 0 0 0.01441 0 45 51 SCN1A 6323 broad.mit.edu 37 2 166901824 166901824 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:166901824G>A uc010zcz.1 - 10 1409 c.1391C>T c.(1390-1392)GCA>GTA p.A464V SCN1A_uc002udo.3_Missense_Mutation_p.A333V|SCN1A_uc010fpk.2_Missense_Mutation_p.A333V NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 464 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TGAGGCAGTTGCCGTTGCTGC 0.448 NaN 0 0 0 0.01441 0 53 91 SCN1A 6323 broad.mit.edu 37 2 166903446 166903446 + Missense_Mutation SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:166903446A>G uc010zcz.1 - 9 1229 c.1211T>C c.(1210-1212)GTA>GCA p.V404A SCN1A_uc002udo.3_Missense_Mutation_p.V273A|SCN1A_uc010fpk.2_Missense_Mutation_p.V273A NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 404 Helical; Name=S6 of repeat I; (By similarity).|I. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) AATGACCAATACAAAAAATAT 0.398 NaN 0 0 0 0.01441 0 60 44 TTN 7273 broad.mit.edu 37 2 179403929 179403929 + Silent SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:179403929C>T uc010zfg.1 - 302 91253 c.91029G>A c.(91027-91029)AAG>AAA p.K30343K uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.K24038K|TTN_uc010zfi.1_Silent_p.K23971K|TTN_uc010zfj.1_Silent_p.K23846K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 31270 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) TAACAGAACTCTTGGTTACAT 0.458 NaN 0 0 0 0.010729 0 11 35 TTN 7273 broad.mit.edu 37 2 179593726 179593726 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:179593726C>A uc010zfg.1 - 62 15531 c.15307G>T c.(15307-15309)GCC>TCC p.A5103S TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A1764S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6030 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) TGAAGTGTGGCCACACTGTCC 0.413 NaN 1 0 1.02788e-11 0.00499 1.15248e-11 17 15 CERKL 375298 broad.mit.edu 37 2 182403985 182403985 + Missense_Mutation SNP A A T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:182403985A>T uc002unx.2 - 13 1551 c.1450T>A c.(1450-1452)TTT>ATT p.F484I CERKL_uc002uny.2_Missense_Mutation_p.F458I|CERKL_uc010zfm.1_Missense_Mutation_p.F440I|CERKL_uc002unz.2_Missense_Mutation_p.F206I|CERKL_uc002uoa.2_Missense_Mutation_p.F389I|CERKL_uc002uob.2_Missense_Mutation_p.F206I|CERKL_uc002uoc.2_Missense_Mutation_p.F345I|CERKL_uc010frk.2_RNA|CERKL_uc002unw.2_Missense_Mutation_p.F54I NM_001030311 NP_001025482 Q49MI3 CERKL_HUMAN ceramide kinase-like isoform b 484 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus diacylglycerol kinase activity ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.088) ACAAATGGAAAATTGAACTAA 0.353 NaN 0 0 0 0.005443 0 26 29 SLC40A1 30061 broad.mit.edu 37 2 190428407 190428407 + Silent SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:190428407C>A uc002uqp.3 - 7 1656 c.1305G>T c.(1303-1305)GGG>GGT p.G435G NM_014585 NP_055400 Q9NP59 S40A1_HUMAN solute carrier family 40 (iron-regulated 435 anatomical structure morphogenesis|cellular iron ion homeostasis cytoplasm|integral to plasma membrane iron ion transmembrane transporter activity|protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491) CAGAATTAGACCCATTAGACA 0.408 NaN 1 0 1.67305e-13 0.00623 1.89886e-13 41 49 MYO1B 4430 broad.mit.edu 37 2 192255219 192255219 + Splice_Site SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:192255219G>C uc010fsg.2 + 18 2237 c.1982_splice c.e18+1 p.R661_splice MYO1B_uc002usq.2_Splice_Site_p.R661_splice|MYO1B_uc002usr.2_Splice_Site_p.R661_splice|MYO1B_uc002usu.2_5'Flank NM_001130158 NP_001123630 O43795 MYO1B_HUMAN myosin IB isoform 1 myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(5)|large_intestine(2)|ovary(1) 8 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236) GACCAGCCAGGTAAGAAATTC 0.378 NaN 0 0 0 0.004007 0 16 20 NRP2 8828 broad.mit.edu 37 2 206631519 206631519 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:206631519C>T uc002vaw.2 + 15 3208 c.2417C>T c.(2416-2418)GCT>GTT p.A806V NRP2_uc002vau.2_Missense_Mutation_p.A806V|NRP2_uc002vav.2_Missense_Mutation_p.A806V|NRP2_uc002vax.2_Missense_Mutation_p.A806V|NRP2_uc002vay.2_Missense_Mutation_p.A806V NM_201266 NP_957718 O60462 NRP2_HUMAN neuropilin 2 isoform 1 precursor 806 Extracellular (Potential). angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 CCCATCTCGGCTTTTGCAGGT 0.343 NaN OREG0015156 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.005443 0 24 24 ZDBF2 57683 broad.mit.edu 37 2 207170202 207170202 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:207170202C>T uc002vbp.2 + 5 1200 c.950C>T c.(949-951)TCT>TTT p.S317F NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 317 nucleic acid binding|zinc ion binding ovary(3) 3 GACATGCCTTCTAATAAAGGA 0.368 NaN 0 0 0 0.004482 0 8 15 FN1 2335 broad.mit.edu 37 2 216240428 216240428 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:216240428G>A uc002vfa.2 - 37 6167 c.5901C>T c.(5899-5901)GGC>GGT p.G1967G FN1_uc002vfb.2_Silent_p.G1786G|FN1_uc002vfc.2_Silent_p.G1786G|FN1_uc002vfd.2_Silent_p.G1967G|FN1_uc002vfe.2_Silent_p.G1876G|FN1_uc002vff.2_Silent_p.G1876G|FN1_uc002vfg.2_Silent_p.G1786G|FN1_uc002vfh.2_Silent_p.G1786G|FN1_uc002vfi.2_Silent_p.G1967G|FN1_uc002vfj.2_Silent_p.G1877G|FN1_uc002vez.2_Silent_p.G161G|FN1_uc010zjp.1_Silent_p.G504G|FN1_uc002vfk.1_RNA|FN1_uc010fva.1_RNA|FN1_uc010fvb.1_RNA|FN1_uc010fvc.1_Silent_p.G329G|FN1_uc010fvd.1_Intron NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 1966 Binds to FBLN1.|Heparin-binding 2.|Fibronectin type-III 15. 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) TGTAGTCAGTGCCTGGTTGTA 0.438 NaN 0 0 0 0.004007 0 14 28 KCNJ13 3769 broad.mit.edu 37 2 233635823 233635823 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:233635823C>T uc002vto.2 - 1 293 c.250G>A c.(250-252)GAT>AAT p.D84N GIGYF2_uc010zmj.1_Intron|GIGYF2_uc002vtg.2_Intron|GIGYF2_uc002vtj.3_Intron|GIGYF2_uc002vti.3_Intron|GIGYF2_uc002vtk.3_Intron|GIGYF2_uc002vth.3_Intron|GIGYF2_uc010zmk.1_Intron|GIGYF2_uc010zml.1_Intron|KCNJ13_uc002vtn.2_Intron|KCNJ13_uc002vtp.2_Missense_Mutation_p.D84N NM_002242 NP_002233 O60928 IRK13_HUMAN potassium inwardly-rectifying channel J13 84 Extracellular (By similarity). voltage-gated potassium channel complex inward rectifier potassium channel activity 0 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908) Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617) AGTTCCAGATCACCATTCATC 0.473 NaN 0 0 0 0.01441 0 57 42 COL6A3 1293 broad.mit.edu 37 2 238275417 238275417 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:238275417G>C uc002vwl.2 - 11 5698 c.5413C>G c.(5413-5415)CTG>GTG p.L1805V COL6A3_uc002vwo.2_Missense_Mutation_p.L1599V|COL6A3_uc010znj.1_Missense_Mutation_p.L1198V NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1805 VWFA 9.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) AGTTCGGACAGCTCCTGGACG 0.517 NaN 0 0 0 0.01441 0 69 88 ANGPT4 51378 broad.mit.edu 37 20 869075 869075 + Missense_Mutation SNP T T A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr20:869075T>A uc002wei.2 - 3 576 c.473A>T c.(472-474)AAC>ATC p.N158I ANGPT4_uc010zpn.1_Missense_Mutation_p.N152I NM_015985 NP_057069 Q9Y264 ANGP4_HUMAN angiopoietin 4 precursor 158 Potential. anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity ovary(2) 2 TGATGTCTGGTTCAGGAGCTG 0.602 NaN 0 0 0 0.007413 0 16 100 TMC2 117532 broad.mit.edu 37 20 2596782 2596782 + Splice_Site SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr20:2596782G>T uc002wgf.1 + 15 1888 c.1873_splice c.e15-1 p.P625_splice TMC2_uc002wgg.1_Splice_Site_p.P609_splice NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN transmembrane cochlear-expressed protein 2 integral to membrane ovary(3) 3 tccctctctAGCCTTCATATG 0.368 NaN 1 0 2.70662e-09 0.009535 2.90556e-09 32 43 MAVS 57506 broad.mit.edu 37 20 3845324 3845324 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr20:3845324G>T uc002wjw.3 + 6 1216 c.1047G>T c.(1045-1047)TTG>TTT p.L349F MAVS_uc002wjx.3_Missense_Mutation_p.L208F|MAVS_uc002wjy.3_Missense_Mutation_p.L47F NM_020746 NP_065797 Q7Z434 MAVS_HUMAN virus-induced signaling adapter 349 Cytoplasmic (Probable). activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus integral to membrane|mitochondrial outer membrane CARD domain binding|protein kinase binding|signal transducer activity 0 CATCCAAATTGCCCATCAACT 0.567 NaN 1 0 1.4374e-25 0.01441 1.82972e-25 54 156 TMX4 56255 broad.mit.edu 37 20 7980425 7980425 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr20:7980425G>C uc002wmx.1 - 4 554 c.421C>G c.(421-423)CAA>GAA p.Q141E NM_021156 NP_066979 Q9H1E5 TMX4_HUMAN thioredoxin-related transmembrane protein 4 141 cell redox homeostasis|electron transport chain|transport integral to membrane 0 TCGACTGATTGCCATTTCTTC 0.403 NaN 0 0 0 0.006122 0 18 54 FLRT3 23767 broad.mit.edu 37 20 14307612 14307612 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr20:14307612G>A uc002wov.1 - 3 1008 c.541C>T c.(541-543)CGC>TGC p.R181C MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.R181C NM_198391 NP_938205 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 181 Extracellular (Potential).|LRR 6. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity kidney(1) 1 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) TCATCCAAGCGTAGTTCTTCT 0.458 NaN 0 0 0 0.01892 0 23 145 RRBP1 6238 broad.mit.edu 37 20 17639309 17639309 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr20:17639309C>A uc002wpv.1 - 4 908 c.554G>T c.(553-555)AGC>ATC p.S185I RRBP1_uc002wpu.2_5'UTR|RRBP1_uc002wpw.1_Missense_Mutation_p.S185I|RRBP1_uc010gcl.1_Intron NM_001042576 NP_001036041 Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 615 Cytoplasmic (Potential). protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity ovary(1) 1 TGCCTCTGGGCTCTGGGCCAC 0.493 NaN 1 0 1.38909e-20 0.01441 1.69439e-20 51 98 HCK 3055 broad.mit.edu 37 20 30672193 30672193 + Splice_Site SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr20:30672193G>C uc002wxh.2 + 8 854 c.683_splice c.e8-1 p.K228_splice HCK_uc010gdy.2_Splice_Site_p.K207_splice|HCK_uc002wxi.2_Splice_Site_p.K206_splice NM_002110 NP_002101 P08631 HCK_HUMAN hemopoietic cell kinase isoform p61HCK interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1) 9 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CTCTGTTCCAGAGGGGAACGA 0.597 NaN 0 0 0 0.010729 0 12 26 HCK 3055 broad.mit.edu 37 20 30672279 30672279 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr20:30672279G>A uc002wxh.2 + 8 939 c.768G>A c.(766-768)GAG>GAA p.E256E HCK_uc010gdy.2_Silent_p.E235E|HCK_uc002wxi.2_Silent_p.E234E NM_002110 NP_002101 P08631 HCK_HUMAN hemopoietic cell kinase isoform p61HCK 256 interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1) 9 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) ATGCCTGGGAGATCCCTCGGG 0.602 NaN 0 0 0 0.009535 0 30 84 CEP250 11190 broad.mit.edu 37 20 34085680 34085680 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr20:34085680G>A uc002xcm.2 + 27 4110 c.3439G>A c.(3439-3441)GCC>ACC p.A1147T CEP250_uc010zve.1_Missense_Mutation_p.A515T NM_007186 NP_009117 Q9BV73 CP250_HUMAN centrosomal protein 2 1147 Gln/Glu-rich.|Potential. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding ovary(4)|central_nervous_system(1) 5 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) GGCCCAGGAAGCCAAGGCAGC 0.662 NaN 0 0 0 0.016723 0 14 10 CHD6 84181 broad.mit.edu 37 20 40033665 40033665 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr20:40033665C>G uc002xka.1 - 37 7894 c.7716G>C c.(7714-7716)AAG>AAC p.K2572N CHD6_uc002xjz.1_Missense_Mutation_p.K109N NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2572 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) GGCTACTCGGCTTGTCTTCCG 0.502 NaN 0 0 0 0.01441 0 75 189 MATN4 8785 broad.mit.edu 37 20 43933116 43933116 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr20:43933116C>T uc002xnn.2 - 3 582 c.395G>A c.(394-396)CGA>CAA p.R132Q MATN4_uc002xno.2_Missense_Mutation_p.R132Q|MATN4_uc002xnp.2_Missense_Mutation_p.R132Q|MATN4_uc010zwr.1_Missense_Mutation_p.R80Q|MATN4_uc002xnr.1_Missense_Mutation_p.R132Q|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank NM_003833 NP_003824 O95460 MATN4_HUMAN matrilin 4 isoform 1 precursor 132 VWFA 1. extracellular region protein binding 0 Myeloproliferative disorder(115;0.0122) CTCTGGCGGTCGCGCGCCCTC 0.731 NaN 0 0 0 0.001168 0 6 19 ZMYND8 23613 broad.mit.edu 37 20 45912357 45912357 + Silent SNP T T C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr20:45912357T>C uc002xta.1 - 9 1034 c.780A>G c.(778-780)CTA>CTG p.L260L ZMYND8_uc010ghr.1_Silent_p.L235L|ZMYND8_uc002xst.1_Silent_p.L235L|ZMYND8_uc002xsu.1_Silent_p.L260L|ZMYND8_uc002xsv.1_Silent_p.L235L|ZMYND8_uc002xsw.1_Silent_p.L12L|ZMYND8_uc002xsx.1_Silent_p.L12L|ZMYND8_uc002xsy.1_Silent_p.L235L|ZMYND8_uc002xsz.1_Silent_p.L197L|ZMYND8_uc010zxy.1_Silent_p.L287L|ZMYND8_uc002xtb.1_Silent_p.L280L|ZMYND8_uc002xss.2_Silent_p.L260L|ZMYND8_uc010zxz.1_Silent_p.L255L|ZMYND8_uc002xtc.1_Silent_p.L280L|ZMYND8_uc002xtd.1_Silent_p.L255L|ZMYND8_uc002xte.1_Silent_p.L260L|ZMYND8_uc010zya.1_Silent_p.L260L|ZMYND8_uc002xtf.1_Silent_p.L280L|ZMYND8_uc002xtg.2_Silent_p.L254L|ZMYND8_uc010ghs.1_Silent_p.L254L NM_012408 NP_036540 Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 isoform b 260 protein binding|zinc ion binding central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1) 5 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) GGCAAGCAGCTAGATAACATT 0.393 NaN 0 0 0 0.016723 0 14 75 ZMYND8 23613 broad.mit.edu 37 20 45927519 45927519 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr20:45927519C>A uc002xta.1 - 4 601 c.347G>T c.(346-348)AGA>ATA p.R116I ZMYND8_uc010ghr.1_Missense_Mutation_p.R91I|ZMYND8_uc002xst.1_Missense_Mutation_p.R91I|ZMYND8_uc002xsu.1_Missense_Mutation_p.R116I|ZMYND8_uc002xsv.1_Missense_Mutation_p.R91I|ZMYND8_uc002xsw.1_5'UTR|ZMYND8_uc002xsx.1_5'UTR|ZMYND8_uc002xsy.1_Missense_Mutation_p.R91I|ZMYND8_uc002xsz.1_Missense_Mutation_p.R91I|ZMYND8_uc010zxy.1_Missense_Mutation_p.R143I|ZMYND8_uc002xtb.1_Missense_Mutation_p.R136I|ZMYND8_uc002xss.2_Missense_Mutation_p.R116I|ZMYND8_uc010zxz.1_Missense_Mutation_p.R111I|ZMYND8_uc002xtc.1_Missense_Mutation_p.R136I|ZMYND8_uc002xtd.1_Missense_Mutation_p.R111I|ZMYND8_uc002xte.1_Missense_Mutation_p.R116I|ZMYND8_uc010zya.1_Missense_Mutation_p.R116I|ZMYND8_uc002xtf.1_Missense_Mutation_p.R136I|ZMYND8_uc002xtg.2_Missense_Mutation_p.R110I|ZMYND8_uc010ghs.1_Missense_Mutation_p.R110I|ZMYND8_uc002xth.2_Missense_Mutation_p.R136I NM_012408 NP_036540 Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 isoform b 116 PHD-type. protein binding|zinc ion binding central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1) 5 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) CGATGTCAGTCTCAGACACTT 0.502 NaN 1 0 9.17885e-22 0.015359 1.13711e-21 36 24 NFATC2 4773 broad.mit.edu 37 20 50048713 50048713 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr20:50048713G>A uc002xwd.2 - 9 2833 c.2613C>T c.(2611-2613)AGC>AGT p.S871S NFATC2_uc002xwc.2_Silent_p.S871S|NFATC2_uc010zyv.1_Silent_p.S652S|NFATC2_uc010zyw.1_Silent_p.S652S|NFATC2_uc010zyx.1_Silent_p.S851S|NFATC2_uc010zyy.1_Silent_p.S652S|NFATC2_uc010zyz.1_Silent_p.S652S|NFATC2_uc002xwe.2_Silent_p.S851S NM_173091 NP_775114 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, 871 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 Hepatocellular(150;0.248) CGGCTCTTTGGCTCGTGGCAT 0.592 NaN 0 0 0 0.01441 0 51 117 GATA5 140628 broad.mit.edu 37 20 61050567 61050567 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr20:61050567C>T uc002ycx.1 - 2 73 c.11G>A c.(10-12)AGC>AAC p.S4N NM_080473 NP_536721 Q9BWX5 GATA5_HUMAN GATA binding protein 5 4 blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter nucleoplasm sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding 0 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;3.08e-06) CAGCGCCAGGCTCTGGTACAT 0.716 NaN 0 0 0 0.00308 0 5 13 PTK6 5753 broad.mit.edu 37 20 62162261 62162261 + Silent SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr20:62162261C>T uc002yfg.2 - 6 892 c.852G>A c.(850-852)CTG>CTA p.L284L PTK6_uc011aay.1_Silent_p.L183L|PTK6_uc011aaz.1_Silent_p.L46L NM_005975 NP_005966 Q13882 PTK6_HUMAN PTK6 protein tyrosine kinase 6 284 Protein kinase. cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity stomach(1)|kidney(1) 2 all_cancers(38;2.51e-11) Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06) CCGAAACGGGCAGGACTTTCT 0.622 NaN 0 0 0 0.010818 0 32 15 ARFRP1 10139 broad.mit.edu 37 20 62337724 62337724 + Silent SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr20:62337724C>T uc002yga.2 - 3 816 c.249G>A c.(247-249)CAG>CAA p.Q83Q ARFRP1_uc002ygc.2_Silent_p.Q83Q|ARFRP1_uc002ygh.3_Silent_p.Q83Q|ARFRP1_uc011abf.1_Silent_p.Q83Q|ARFRP1_uc011abg.1_Silent_p.Q83Q|ARFRP1_uc002yge.2_RNA|ARFRP1_uc002ygd.2_RNA|ARFRP1_uc002ygf.2_Silent_p.Q83Q|ARFRP1_uc002ygg.2_RNA|ARFRP1_uc011abh.1_RNA|ZGPAT_uc002ygi.2_5'Flank|ZGPAT_uc002ygj.2_5'Flank|ZGPAT_uc002ygk.2_5'Flank|ZGPAT_uc010gkk.1_5'Flank|ZGPAT_uc010gkl.1_5'Flank|ZGPAT_uc002ygm.2_5'Flank|ZGPAT_uc002ygn.3_5'Flank NM_003224 NP_003215 Q13795 ARFRP_HUMAN ADP-ribosylation factor related protein 1 83 small GTPase mediated signal transduction Golgi apparatus|membrane fraction GTP binding|GTPase activity breast(1)|skin(1) 2 all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09) Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102) CCCACAAAGACTGCAGCTCTT 0.597 NaN 0 0 0 0.01441 0 86 218 RGS19 10287 broad.mit.edu 37 20 62705211 62705211 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr20:62705211C>A uc002yhy.2 - 6 916 c.649G>T c.(649-651)GCC>TCC p.A217S RGS19_uc002yhz.2_Missense_Mutation_p.A195S|RGS19_uc002yia.2_Missense_Mutation_p.A217S|RGS19_uc002yib.2_Missense_Mutation_p.A217S NM_005873 NP_005864 P49795 RGS19_HUMAN G protein signalling regulator 19 217 Interaction with GIPC. autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction Golgi apparatus|membrane fraction|plasma membrane GTPase activator activity|protein binding|signal transducer activity skin(1) 1 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) GCGGCCTAGGCCTCGGAGGAG 0.667 NaN 1 0 9.21137e-24 0.01441 1.15142e-23 68 33 ADAMTS5 11096 broad.mit.edu 37 21 28296648 28296649 + Missense_Mutation DNP GG GG TT TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr21:28296648_28296649GG>TT uc002ymg.2 - 8 3245_3246 c.2516_2517CC>AA c.(2515-2517)CCC>CAA p.P839Q NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 839 Spacer. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 ATGGTTTAGTGGGGTCTGTTGC 0.45 NaN 0 0 0 0.004672 0 55 99 HUNK 30811 broad.mit.edu 37 21 33297057 33297057 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr21:33297057C>T uc002yph.2 + 2 899 c.539C>T c.(538-540)GCC>GTC p.A180V NM_014586 NP_055401 P57058 HUNK_HUMAN hormonally upregulated Neu-associated kinase 180 Protein kinase. multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity stomach(1)|skin(1) 2 CTGCACCGGGCCGGGGTGGTC 0.612 NaN 0 0 0 0.01441 0 59 66 MORC3 23515 broad.mit.edu 37 21 37721694 37721694 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr21:37721694C>A uc002yvi.2 + 9 1167 c.1091C>A c.(1090-1092)ACT>AAT p.T364N NM_015358 NP_056173 Q14149 MORC3_HUMAN MORC family CW-type zinc finger 3 364 cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization aggresome|intermediate filament cytoskeleton|PML body ATP binding|zinc ion binding ovary(2) 2 TTCGACTATACTAATGAGTAC 0.328 NaN 1 0 1.99824e-07 0.00499 2.09645e-07 17 20 LCA5L 150082 broad.mit.edu 37 21 40795035 40795035 + Missense_Mutation SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr21:40795035A>G uc002yxu.2 - 5 1017 c.704T>C c.(703-705)TTA>TCA p.L235S LCA5L_uc002yxv.2_Missense_Mutation_p.L235S|LCA5L_uc002yxw.1_Missense_Mutation_p.L235S|LCA5L_uc002yxx.1_Missense_Mutation_p.L97S|LCA5L_uc002yxy.2_RNA NM_152505 NP_689718 O95447 LCA5L_HUMAN Leber congenital amaurosis 5-like 235 Potential. 0 Prostate(19;1.2e-06) AGTCTTCAGTAACTGGCTGTC 0.353 NaN 0 0 0 0.007835 0 39 55 TMPRSS2 7113 broad.mit.edu 37 21 42845396 42845396 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr21:42845396C>A uc002yzj.2 - 9 889 c.755G>T c.(754-756)CGC>CTC p.R252L TMPRSS2_uc010gor.2_Missense_Mutation_p.R289L|TMPRSS2_uc010gos.1_Missense_Mutation_p.R252L NM_005656 NP_005647 O15393 TMPS2_HUMAN transmembrane protease, serine 2 isoform 2 252 Extracellular (Potential). proteolysis cytoplasm|extracellular region|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity TMPRSS2/ERG(2499)|TMPRSS2/ETV1(24) prostate(2523)|central_nervous_system(1) 2524 Prostate(19;4.48e-07)|all_epithelial(19;0.031) CCTGCTCTGGCGGCTTGAGTT 0.687 NaN T ERG|ETV1|ETV4|ETV5 prostate 1 0 3.45872e-05 0.004007 3.54168e-05 5 12 ARVCF 421 broad.mit.edu 37 22 19965049 19965049 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr22:19965049G>T uc002zqz.2 - 9 2030 c.1759C>A c.(1759-1761)CCC>ACC p.P587T ARVCF_uc002zqy.2_Missense_Mutation_p.P109T NM_001670 NP_001661 O00192 ARVC_HUMAN armadillo repeat protein 587 ARM 6. cell adhesion|multicellular organismal development protein binding liver(1) 1 Colorectal(54;0.0993) TCGGCCCCGGGCACCTCCTTG 0.677 NaN 1 0 2.17656e-39 0.01441 2.96803e-39 62 67 RAB36 9609 broad.mit.edu 37 22 23495282 23495282 + Missense_Mutation SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr22:23495282A>G uc002zwv.1 + 5 528 c.488A>G c.(487-489)GAG>GGG p.E163G RAB36_uc010gtw.1_Missense_Mutation_p.E141G NM_004914 NP_004905 O95755 RAB36_HUMAN RAB36, member RAS oncogene family 163 protein transport|small GTPase mediated signal transduction Golgi membrane GTP binding ovary(1)|central_nervous_system(1) 2 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.155) TTTGAAATTGAGCGCTTTGAG 0.507 NaN 0 0 0 0.01441 0 69 98 BCR 613 broad.mit.edu 37 22 23626223 23626223 + Silent SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr22:23626223G>C uc002zww.2 + 9 2771 c.2175G>C c.(2173-2175)CTG>CTC p.L725L BCR_uc002zwx.2_Silent_p.L725L|BCR_uc011aiy.1_Silent_p.L314L|BCR_uc010gtx.1_Silent_p.L192L|BCR_uc002zwy.1_Silent_p.L11L NM_004327 NP_004318 P11274 BCR_HUMAN breakpoint cluster region isoform 1 725 PH. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity BCR/JAK2(6) haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1) 12 CCCGCAAGCTGCGCCACGTCT 0.657 NaN T ABL1| FGFR1|JAK2 CML|ALL|AML 0 0 0 0.009096 0 4 10 MTMR3 8897 broad.mit.edu 37 22 30416019 30416019 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr22:30416019G>T uc003agv.3 + 17 2699 c.2371G>T c.(2371-2373)GTC>TTC p.V791F MTMR3_uc003agu.3_Missense_Mutation_p.V791F|MTMR3_uc003agw.3_Missense_Mutation_p.V791F NM_021090 NP_066576 Q13615 MTMR3_HUMAN myotubularin-related protein 3 isoform c 791 phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|ovary(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) TTCCCTGGAGGTCCCTGTGGA 0.537 NaN 1 0 6.4771e-29 0.010771 8.51846e-29 45 64 RNF215 200312 broad.mit.edu 37 22 30780398 30780398 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr22:30780398C>T uc003ahp.2 - 5 674 c.674G>A c.(673-675)GGC>GAC p.G225D RNF215_uc011akw.1_Missense_Mutation_p.G130D NM_001017981 NP_001017981 Q9Y6U7 RN215_HUMAN ring finger protein 215 225 Extracellular (Potential). integral to membrane zinc ion binding central_nervous_system(1) 1 CTTGGAGAGGCCACAGGTGGT 0.602 NaN 0 0 0 0.009718 0 42 45 SMTN 6525 broad.mit.edu 37 22 31491427 31491427 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr22:31491427G>A uc003ajl.1 + 12 1989 c.1771G>A c.(1771-1773)GTC>ATC p.V591I SMTN_uc003ajk.1_Missense_Mutation_p.V591I|SMTN_uc003ajm.1_Missense_Mutation_p.V591I|SMTN_uc011ale.1_Missense_Mutation_p.V676I|SMTN_uc011alf.1_Missense_Mutation_p.V647I|SMTN_uc003ajn.1_Missense_Mutation_p.V614I|SMTN_uc011alg.1_Missense_Mutation_p.V47I|SMTN_uc003ajo.1_Missense_Mutation_p.V190I|SMTN_uc011alh.1_RNA|SMTN_uc010gwe.1_Missense_Mutation_p.V47I NM_006932 NP_008863 P53814 SMTN_HUMAN smoothelin isoform c 591 muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle large_intestine(2)|pancreas(1) 3 GGATGAAGGAGTCTTGGACAA 0.582 NaN 0 0 0 0.004656 0 24 26 NCF4 4689 broad.mit.edu 37 22 37266564 37266564 + Silent SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr22:37266564C>G uc003apy.3 + 5 634 c.450C>G c.(448-450)CTC>CTG p.L150L NCF4_uc003apz.3_Silent_p.L150L NM_000631 NP_000622 Q15080 NCF4_HUMAN neutrophil cytosolic factor 4 isoform 1 150 cell communication|immune response|oxidation-reduction process cytosol|NADPH oxidase complex phosphatidylinositol binding|protein dimerization activity ovary(1) 1 TCCGCCGGCTCCGCCCGCGCA 0.617 NaN 0 0 0 0.006999 0 33 54 PNPLA3 80339 broad.mit.edu 37 22 44332964 44332964 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr22:44332964C>T uc003bei.1 + 6 964 c.791C>T c.(790-792)TCA>TTA p.S264L PNPLA3_uc010gzm.1_RNA NM_025225 NP_079501 Q9NST1 PLPL3_HUMAN patatin-like phospholipase domain containing 3 264 Lumenal (Potential). triglyceride biosynthetic process|triglyceride catabolic process integral to membrane diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity 0 Ovarian(80;0.024)|all_neural(38;0.0416) GGCCTGAAGTCATCCTCAGAA 0.602 NaN 0 0 0 0.016522 0 23 36 C22orf9 23313 broad.mit.edu 37 22 45601541 45601541 + Silent SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr22:45601541C>T uc003bfx.1 - 4 450 c.384G>A c.(382-384)GGG>GGA p.G128G C22orf9_uc010gzw.1_Intron|C22orf9_uc003bfv.1_Silent_p.G137G|C22orf9_uc003bfw.1_Silent_p.G133G|C22orf9_uc010gzx.2_Silent_p.G110G NM_001009880 NP_001009880 Q6ICG6 K0930_HUMAN hypothetical protein LOC23313 isoform b 128 protein binding 0 Ovarian(80;0.00965)|all_neural(38;0.0244) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|READ - Rectum adenocarcinoma(1;0.000617)|Colorectal(1;0.0024) TGTGAATGTCCCCGCCGTCAG 0.612 NaN 0 0 0 0.009535 0 29 43 TUBGCP6 85378 broad.mit.edu 37 22 50658876 50658876 + Silent SNP T T C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr22:50658876T>C uc003bkb.1 - 16 4424 c.3912A>G c.(3910-3912)TCA>TCG p.S1304S TUBGCP6_uc003bka.1_Silent_p.S391S|TUBGCP6_uc010har.1_Silent_p.S1296S|TUBGCP6_uc010has.1_RNA NM_020461 NP_065194 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1304 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding ovary(2)|central_nervous_system(2) 4 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) GGCTGAGCGCTGACTGGGACG 0.682 NaN 0 0 0 0.004007 0 15 26 MAPK12 6300 broad.mit.edu 37 22 50694610 50694610 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr22:50694610C>G uc003bkm.1 - 7 674 c.523G>C c.(523-525)GCC>CCC p.A175P MAPK12_uc003bkn.2_5'UTR|MAPK12_uc003bko.2_Missense_Mutation_p.A85P|MAPK12_uc003bkl.1_Missense_Mutation_p.A165P|MAPK12_uc003bkp.2_5'Flank|MAPK12_uc003bkq.2_5'UTR NM_002969 NP_002960 P53778 MK12_HUMAN mitogen-activated protein kinase 12 175 Protein kinase. cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction mitochondrion|nucleoplasm ATP binding|magnesium ion binding|MAP kinase activity|protein binding 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GCCTGCCTGGCCAGGCCGAAG 0.637 NaN 0 0 0 0.005443 0 27 46 MAPK8IP2 23542 broad.mit.edu 37 22 51044009 51044009 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr22:51044009G>T uc003bmx.2 + 8 1978 c.1861G>T c.(1861-1863)GAC>TAC p.D621Y MAPK8IP2_uc003bmy.2_Missense_Mutation_p.D594Y|MAPK8IP2_uc011asc.1_5'UTR NM_012324 NP_036456 Q13387 JIP2_HUMAN mitogen-activated protein kinase 8 interacting 621 SH3. behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior cytoplasm|postsynaptic density beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding large_intestine(2)|central_nervous_system(1) 3 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GCGGCATCCAGACGAGCTGGA 0.652 NaN 1 0 0.00198382 0.001984 0.00200185 7 9 CNTN4 152330 broad.mit.edu 37 3 2908487 2908487 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:2908487G>A uc003bpc.2 + 7 727 c.506G>A c.(505-507)CGC>CAC p.R169H CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Missense_Mutation_p.R169H NM_175607 NP_783200 Q8IWV2 CNTN4_HUMAN contactin 4 isoform a precursor 169 Ig-like C2-type 2. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1) 7 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) CAGGATAATCGCCGCTTTGTT 0.388 NaN 0 0 0 0.01441 0 63 123 VGLL4 9686 broad.mit.edu 37 3 11600188 11600188 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:11600188C>G uc003bwf.2 - 6 1081 c.715G>C c.(715-717)GAC>CAC p.D239H VGLL4_uc010hdx.1_Missense_Mutation_p.D245H|VGLL4_uc003bwg.2_Missense_Mutation_p.D244H|VGLL4_uc010hdv.1_Missense_Mutation_p.D155H|VGLL4_uc010hdw.1_Missense_Mutation_p.D159H|VGLL4_uc011aun.1_Missense_Mutation_p.D180H NM_014667 NP_055482 Q14135 VGLL4_HUMAN vestigial like 4 isoform b 239 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111) GCAAAGTGGTCGTCCACGGAG 0.642 NaN 0 0 0 0.01441 0 123 146 KCNH8 131096 broad.mit.edu 37 3 19389402 19389402 + Silent SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:19389402C>A uc003cbk.1 + 5 951 c.756C>A c.(754-756)TCC>TCA p.S252S KCNH8_uc011awe.1_Silent_p.S252S|KCNH8_uc010hex.1_5'UTR NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 252 Extracellular (Potential). integral to membrane two-component sensor activity lung(4)|ovary(1) 5 ACGACCTGTCCACAACTCGGA 0.418 NaN 1 0 1.47544e-110 0.01441 2.12142e-110 239 113 EFHB 151651 broad.mit.edu 37 3 19925991 19925991 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:19925991G>C uc003cbl.3 - 11 2246 c.2050C>G c.(2050-2052)CTC>GTC p.L684V EFHB_uc003cbm.2_Missense_Mutation_p.L554V NM_144715 NP_653316 Q8N7U6 EFHB_HUMAN EF hand domain family, member B 684 signal transduction proteinaceous extracellular matrix calcium ion binding 0 AGTGTCCGGAGAGTCTTTTCT 0.393 NaN 0 0 0 0.011902 0 46 124 NEK10 152110 broad.mit.edu 37 3 27326389 27326389 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:27326389G>T uc003cdt.1 - 22 2127 c.1853C>A c.(1852-1854)TCT>TAT p.S618Y NEK10_uc003cds.1_Missense_Mutation_p.S15Y NM_199347 NP_955379 Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 isoform 3 618 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1) 13 TTCCTTCAAAGAACTGAAATG 0.313 NaN 1 0 4.22769e-11 0.00632 4.67404e-11 25 131 SCN5A 6331 broad.mit.edu 37 3 38649641 38649641 + Splice_Site SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:38649641C>T uc003cio.2 - 8 1192 c.998_splice c.e8+1 p.G333_splice SCN5A_uc003cin.2_Splice_Site_p.G333_splice|SCN5A_uc003cil.3_Splice_Site_p.G333_splice|SCN5A_uc010hhi.2_Splice_Site_p.G333_splice|SCN5A_uc010hhk.2_Splice_Site_p.G333_splice|SCN5A_uc011ayr.1_Splice_Site_p.G333_splice|SCN5A_uc010hhj.1_5'Flank NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GTGCCACATACCCAGCGTCAG 0.522 NaN 0 0 0 0.01441 0 228 129 CELSR3 1951 broad.mit.edu 37 3 48684347 48684347 + Missense_Mutation SNP T T C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:48684347T>C uc003cul.2 - 21 7425 c.7144A>G c.(7144-7146)AGC>GGC p.S2382G CELSR3_uc003cuf.1_Missense_Mutation_p.S2452G|CELSR3_uc010hkf.2_5'Flank|CELSR3_uc010hkg.2_Missense_Mutation_p.S365G NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 2382 Extracellular (Potential). homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TCTATGCTGCTGCTTGTGGGC 0.572 NaN 0 0 0 0.004482 0 9 2 HTR1F 3355 broad.mit.edu 37 3 88039908 88039908 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:88039908C>A uc003dqr.2 + 2 167 c.9C>A c.(7-9)TTC>TTA p.F3L NM_000866 NP_000857 P30939 5HT1F_HUMAN 5-hydroxytryptamine (serotonin) receptor 1F 3 Extracellular (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity ovary(3) 3 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) AAATGGATTTCTTAAATTCAT 0.368 NaN 1 0 6.97489e-18 0.021022 8.34281e-18 38 65 SIDT1 54847 broad.mit.edu 37 3 113286403 113286403 + Missense_Mutation SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:113286403A>G uc003eak.2 + 3 1012 c.361A>G c.(361-363)AAC>GAC p.N121D SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.N121D|SIDT1_uc011big.1_5'UTR NM_017699 NP_060169 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 precursor 121 Extracellular (Potential). integral to membrane ovary(3)|pancreas(1)|skin(1) 5 GAGGAGCTACAACTATCAAGA 0.468 NaN 0 0 0 0.01441 0 59 101 LSAMP 4045 broad.mit.edu 37 3 115805390 115805390 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:115805390C>A uc003ebt.2 - 2 669 c.169G>T c.(169-171)GAC>TAC p.D57Y LSAMP_uc011bis.1_Missense_Mutation_p.D57Y NM_002338 NP_002329 Q13449 LSAMP_HUMAN limbic system-associated membrane protein 57 Ig-like C2-type 1. cell adhesion|nervous system development anchored to membrane|plasma membrane 0 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) GAGTTCTTGTCTTCTACAACG 0.458 NaN 1 0 1.76056e-25 0.011902 2.23595e-25 40 27 ARHGAP31 57514 broad.mit.edu 37 3 119128361 119128361 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:119128361C>A uc003ecj.3 + 11 2196 c.1664C>A c.(1663-1665)GCA>GAA p.A555E NM_020754 NP_065805 Q2M1Z3 RHG31_HUMAN Cdc42 GTPase-activating protein 555 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity ovary(2) 2 CCTAAGAAGGCAGGTCTTGAG 0.517 NaN 1 0 1.05317e-09 0.020292 1.13718e-09 14 29 KALRN 8997 broad.mit.edu 37 3 124048787 124048787 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:124048787C>G uc003ehg.2 + 8 1485 c.1358C>G c.(1357-1359)GCA>GGA p.A453G KALRN_uc010hrv.1_Missense_Mutation_p.A453G|KALRN_uc003ehf.1_Missense_Mutation_p.A453G|KALRN_uc011bjy.1_Missense_Mutation_p.A453G NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 453 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 CTAGAGCTGGCAATCCACCAC 0.562 NaN 0 0 0 0.01441 0 71 71 PLXND1 23129 broad.mit.edu 37 3 129284333 129284333 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:129284333C>A uc003emx.2 - 25 4471 c.4371G>T c.(4369-4371)GAG>GAT p.E1457D PLXND1_uc011blb.1_Missense_Mutation_p.E125D NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 1457 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 TGGTGTAGTACTCCAGCTTGC 0.632 NaN 1 0 2.69673e-31 0.01441 3.58059e-31 67 54 MRPL3 11222 broad.mit.edu 37 3 131208827 131208827 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:131208827G>T uc003eoh.2 - 5 730 c.566C>A c.(565-567)CCA>CAA p.P189Q MRPL3_uc011blo.1_Missense_Mutation_p.P84Q|MRPL3_uc011blp.1_Missense_Mutation_p.P216Q NM_007208 NP_009139 P09001 RM03_HUMAN mitochondrial ribosomal protein L3 189 translation mitochondrial large ribosomal subunit RNA binding|structural constituent of ribosome 0 CAAATTACCTGGTTTAATTGC 0.363 NaN 1 0 1.61879e-10 0.013537 1.76509e-10 11 17 P2RY14 9934 broad.mit.edu 37 3 150931787 150931787 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:150931787G>A uc003eyr.1 - 3 796 c.318C>T c.(316-318)TAC>TAT p.Y106Y MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY14_uc003eys.1_Silent_p.Y106Y NM_001081455 NP_001074924 Q15391 P2Y14_HUMAN P2Y14 receptor 106 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) CAATGCTGACGTACATGTTGA 0.458 NaN 0 0 0 0.019004 0 38 33 GMPS 8833 broad.mit.edu 37 3 155615800 155615800 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:155615800G>T uc003faq.2 + 3 629 c.294G>T c.(292-294)AAG>AAT p.K98N GMPS_uc011bom.1_Intron NM_003875 NP_003866 P49915 GUAA_HUMAN guanine monophosphate synthetase 98 Glutamine amidotransferase type-1. glutamine metabolic process|purine base biosynthetic process cytosol ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity ovary(2)|lung(1) 3 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CTATTGGCAAGCCTGTTCTTG 0.368 NaN T MLL AML 1 0 1.09856e-86 0.01441 1.57546e-86 152 156 TRIM59 286827 broad.mit.edu 37 3 160156689 160156689 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:160156689C>A uc003fdm.2 - 3 478 c.283G>T c.(283-285)GTC>TTC p.V95F IFT80_uc003fda.2_RNA NM_173084 NP_775107 Q8IWR1 TRI59_HUMAN tripartite motif-containing 59 95 B box-type. integral to membrane|intracellular zinc ion binding 0 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) GGGCAGGTGACAATATCTGGA 0.363 NaN 1 0 1.47244e-24 0.00623 1.85729e-24 39 58 SLITRK3 22865 broad.mit.edu 37 3 164907895 164907895 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:164907895G>T uc003fej.3 - 2 1168 c.724C>A c.(724-726)CAA>AAA p.Q242K SLITRK3_uc003fek.2_Missense_Mutation_p.Q242K NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 242 LRRCT 1.|Extracellular (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 CTCTTCAGTTGTACAATTTCA 0.463 NaN HNSCC(40;0.11) 1 0 1.23713e-20 0.01441 1.51569e-20 47 93 MAP3K13 9175 broad.mit.edu 37 3 185198111 185198111 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:185198111G>A uc010hyf.2 + 14 2859 c.2593G>A c.(2593-2595)GAC>AAC p.D865N MAP3K13_uc011brt.1_Missense_Mutation_p.D658N|MAP3K13_uc011bru.1_Missense_Mutation_p.D721N|MAP3K13_uc003fpi.2_Missense_Mutation_p.D865N|MAP3K13_uc010hyg.2_Missense_Mutation_p.D555N NM_004721 NP_004712 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 865 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding ovary(2)|skin(1) 3 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) AAATACCAGTGACCACTCAAA 0.488 NaN 0 0 0 0.01441 0 86 77 CCDC50 152137 broad.mit.edu 37 3 191074896 191074896 + Silent SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:191074896C>T uc003fsw.2 + 2 659 c.69C>T c.(67-69)GTC>GTT p.V23V CCDC50_uc003fsv.2_Silent_p.V23V NM_174908 NP_777568 Q8IVM0 CCD50_HUMAN Ymer protein short isoform 23 cytoplasm protein binding 0 all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221) LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06) GBM - Glioblastoma multiforme(46;0.000136) ATTTTGCTGTCCTGGAGGACC 0.398 NaN 0 0 0 0.008361 0 28 51 PCYT1A 5130 broad.mit.edu 37 3 195968895 195968895 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:195968895C>T uc003fwg.2 - 8 805 c.632G>A c.(631-633)CGG>CAG p.R211Q PCYT1A_uc003fwh.2_Missense_Mutation_p.R211Q NM_005017 NP_005008 P49585 PCY1A_HUMAN choline phosphate cytidylyltransferase 1 alpha 211 Catalytic (Potential). cytosol|soluble fraction choline-phosphate cytidylyltransferase activity 0 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00259) Choline(DB00122) ATCATAATCCCGCACAATTCG 0.488 NaN 0 0 0 0.01441 0 54 97 ZNF141 7700 broad.mit.edu 37 4 367619 367619 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:367619C>A uc003gaa.2 + 5 1571 c.1393C>A c.(1393-1395)CAC>AAC p.H465N ZNF141_uc003gab.2_Intron NM_003441 NP_003432 Q15928 ZN141_HUMAN zinc finger protein 141 465 C2H2-type 11. anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding 0 ACGGTTCTCACACCTGAATAA 0.333 NaN 1 0 1.47857e-17 0.01441 1.76475e-17 49 50 FAM53A 152877 broad.mit.edu 37 4 1656734 1656734 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:1656734G>A uc011bve.1 - 4 1051 c.853C>T c.(853-855)CCA>TCA p.P285S FAM53A_uc010ibw.2_Missense_Mutation_p.P285S NM_001013622 NP_001013644 Q6NSI3 FA53A_HUMAN dorsal neural-tube nuclear protein 285 nucleus 0 all_epithelial(65;0.206)|Breast(71;0.212) OV - Ovarian serous cystadenocarcinoma(23;0.0145) TCCAAGGATGGGCGTGTCCAC 0.647 NaN 0 0 0 0.007291 0 27 54 FGFR3 2261 broad.mit.edu 37 4 1803564 1803564 + Missense_Mutation SNP C C T rs121913482 TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 C T C C Valid Somatic Phase_I WXS RNASeq Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:1803564C>T uc003gdr.3 + 7 998 c.742C>T c.(742-744)CGC>TGC p.R248C FGFR3_uc003gdu.2_Missense_Mutation_p.R248C|FGFR3_uc003gds.3_Missense_Mutation_p.R248C|FGFR3_uc003gdq.3_Missense_Mutation_p.R248C|FGFR3_uc010icb.1_Missense_Mutation_p.R90C|FGFR3_uc003gdt.1_Missense_Mutation_p.R90C NM_000142 NP_000133 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 isoform 1 248 Extracellular (Potential). R -> C (in KERSEB, bladder cancer, keratinocytic non-epidermolytic nevus and TD1; severe and lethal; also found as somatic mutation in one patient with multiple myeloma). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.R248C(291)|p.R248_S249insC(2)|p.R248_S249del(1) urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1) 2600 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) CCCCACAGAGCGCTCCCCGCA 0.567 1 Mis|T IGH@|ETV6 bladder|MM|T-cell lymphoma Hypochondroplasia|Thanatophoric dysplasia Muenke_syndrome|Saethre-Chotzen_syndrome 0 0 0 0.00308 0 6 37 FGFR3 2261 broad.mit.edu 37 4 1803568 1803568 + Missense_Mutation SNP C C G rs121913483 TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 C G C C Valid Somatic Phase_I WXS RNASeq Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:1803568C>G uc003gdr.3 + 7 1002 c.746C>G c.(745-747)TCC>TGC p.S249C FGFR3_uc003gdu.2_Missense_Mutation_p.S249C|FGFR3_uc003gds.3_Missense_Mutation_p.S249C|FGFR3_uc003gdq.3_Missense_Mutation_p.S249C|FGFR3_uc010icb.1_Missense_Mutation_p.S91C|FGFR3_uc003gdt.1_Missense_Mutation_p.S91C NM_000142 NP_000133 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 isoform 1 249 Extracellular (Potential). S -> C (in KERSEB, bladder cancer, cervical cancer and TD1). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.S249C(1368)|p.R248_S249insC(2)|p.S249T(1)|p.R248_S249del(1) urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1) 2600 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) ACAGAGCGCTCCCCGCACCGG 0.562 1 Mis|T IGH@|ETV6 bladder|MM|T-cell lymphoma Hypochondroplasia|Thanatophoric dysplasia Muenke_syndrome|Saethre-Chotzen_syndrome 0 0 0 0.006214 0 7 37 STX18 53407 broad.mit.edu 37 4 4459161 4459161 + Missense_Mutation SNP T T A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:4459161T>A uc003gic.2 - 4 503 c.419A>T c.(418-420)GAT>GTT p.D140V NM_016930 NP_058626 Q9P2W9 STX18_HUMAN syntaxin 18 140 Cytoplasmic (Potential). ER to Golgi vesicle-mediated transport|intracellular protein transport endoplasmic reticulum membrane|Golgi membrane|integral to membrane SNAP receptor activity 0 UCEC - Uterine corpus endometrioid carcinoma (64;0.0534) TTTCAAGTAATCTTCAATGAA 0.378 NaN 0 0 0 0.010818 0 32 21 ACOX3 8310 broad.mit.edu 37 4 8383332 8383332 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:8383332C>T uc010idk.2 - 14 1685 c.1540G>A c.(1540-1542)GCC>ACC p.A514T ACOX3_uc003glc.3_Missense_Mutation_p.A514T|ACOX3_uc003gld.3_Missense_Mutation_p.A514T|ACOX3_uc003gle.1_Missense_Mutation_p.A419T NM_003501 NP_003492 O15254 ACOX3_HUMAN acyl-Coenzyme A oxidase 3 isoform a 514 bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity central_nervous_system(1) 1 GCTGCCAGGGCGACTTCGGAA 0.398 NaN 0 0 0 0.004656 0 27 44 WDR1 9948 broad.mit.edu 37 4 10084738 10084738 + Silent SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:10084738C>A uc003gmf.2 - 10 1387 c.1104G>T c.(1102-1104)GTG>GTT p.V368V WDR1_uc003gmg.2_Silent_p.V228V|WDR1_uc010idm.2_RNA NM_017491 NP_059830 O75083 WDR1_HUMAN WD repeat-containing protein 1 isoform 1 368 WD 7. platelet activation|platelet degranulation|sensory perception of sound cytoskeleton|cytosol|extracellular region actin binding ovary(2)|pancreas(1) 3 STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232) TCATCCTGGACACCTGGTTCG 0.602 NaN 1 0 5.03518e-11 0.007413 5.5447e-11 18 26 WDR1 9948 broad.mit.edu 37 4 10100674 10100674 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:10100674C>A uc003gmf.2 - 4 602 c.319G>T c.(319-321)GAC>TAC p.D107Y WDR1_uc003gmg.2_Intron NM_017491 NP_059830 O75083 WDR1_HUMAN WD repeat-containing protein 1 isoform 1 107 WD 2. platelet activation|platelet degranulation|sensory perception of sound cytoskeleton|cytosol|extracellular region actin binding ovary(2)|pancreas(1) 3 STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232) CAAGCAATGTCTTTGATCTTC 0.557 NaN 1 0 2.0833e-19 0.01441 2.51355e-19 50 79 AMBN 258 broad.mit.edu 37 4 71472154 71472154 + Missense_Mutation SNP G G A rs141401324 TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:71472154G>A uc003hfl.2 + 13 1126 c.1051G>A c.(1051-1053)GCA>ACA p.A351T NM_016519 NP_057603 Q9NP70 AMBN_HUMAN ameloblastin precursor 351 bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth proteinaceous extracellular matrix growth factor activity|structural constituent of tooth enamel ovary(3)|skin(1) 4 Lung(101;0.235) TGCTCCCCACGCAGGGCTCCT 0.587 NaN 0 0 0 0.008291 0 11 40 NPFFR2 10886 broad.mit.edu 37 4 73013158 73013158 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:73013158G>A uc003hgg.2 + 4 1296 c.1198G>A c.(1198-1200)GAC>AAC p.D400N NPFFR2_uc010iig.1_Missense_Mutation_p.D182N|NPFFR2_uc003hgi.2_Missense_Mutation_p.D301N|NPFFR2_uc003hgh.2_Missense_Mutation_p.D298N|NPFFR2_uc003hgj.2_RNA NM_004885 NP_004876 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 isoform 1 400 Extracellular (Potential). detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity ovary(2)|central_nervous_system(1) 3 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) GATGCTCTCAGACTACGCTGA 0.478 NaN 0 0 0 0.01441 0 49 49 PARM1 25849 broad.mit.edu 37 4 75937717 75937717 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:75937717G>T uc003hih.1 + 2 366 c.126G>T c.(124-126)TGG>TGT p.W42C NM_015393 NP_056208 Q6UWI2 PARM1_HUMAN prostatic androgen-repressed message-1 42 Extracellular (Potential). positive regulation of telomerase activity early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane ovary(1) 1 CCACCATCTGGACTAGCTCTC 0.522 NaN 1 0 2.80507e-11 0.012213 3.11363e-11 32 56 WDFY3 23001 broad.mit.edu 37 4 85598394 85598394 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:85598394C>G uc003hpd.2 - 67 10823 c.10415G>C c.(10414-10416)AGA>ACA p.R3472T WDFY3_uc003hpc.2_Missense_Mutation_p.R227T NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 3472 FYVE-type. cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) ATGGTGTCGTCTTTCTGTGAG 0.468 NaN 0 0 0 0.005524 0 35 71 MMRN1 22915 broad.mit.edu 37 4 90856744 90856744 + Missense_Mutation SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:90856744A>G uc003hst.2 + 6 1984 c.1913A>G c.(1912-1914)CAA>CGA p.Q638R MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.Q380R NM_007351 NP_031377 Q13201 MMRN1_HUMAN multimerin 1 638 Potential. cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen ovary(4) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) ATGAGTGAGCAACTAAATGAT 0.378 NaN 0 0 0 0.005524 0 38 66 GRID2 2895 broad.mit.edu 37 4 94343960 94343960 + Silent SNP T T A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:94343960T>A uc011cdt.1 + 10 1644 c.1386T>A c.(1384-1386)GGT>GGA p.G462G GRID2_uc011cdu.1_Silent_p.G367G NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 462 Extracellular (Potential). G -> C (in Ref. 1; AAC39579). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) ATGTCTTGGGTAAGCCGAAGA 0.383 NaN 0 0 0 0.013726 0 33 33 UNC5C 8633 broad.mit.edu 37 4 96222783 96222783 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:96222783C>T uc003htp.1 - 3 618 c.464G>A c.(463-465)AGC>AAC p.S155N UNC5C_uc010ilc.1_Missense_Mutation_p.S155N|UNC5C_uc003htq.2_Missense_Mutation_p.S155N NM_003728 NP_003719 O95185 UNC5C_HUMAN unc5C precursor 155 Extracellular (Potential).|Ig-like. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity ovary(3)|pancreas(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) CGCCTTCCGGCTCTTTGTGGT 0.498 NaN 0 0 0 0.01441 0 49 40 NPNT 255743 broad.mit.edu 37 4 106858277 106858277 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:106858277C>T uc003hya.2 + 4 582 c.377C>T c.(376-378)TCC>TTC p.S126F NPNT_uc011cfc.1_Missense_Mutation_p.S143F|NPNT_uc011cfd.1_Missense_Mutation_p.S156F|NPNT_uc011cfe.1_Missense_Mutation_p.S156F|NPNT_uc010ilt.1_Missense_Mutation_p.S126F|NPNT_uc011cff.1_Missense_Mutation_p.S126F|NPNT_uc010ilu.1_Missense_Mutation_p.S22F NM_001033047 NP_001028219 Q6UXI9 NPNT_HUMAN nephronectin precursor 126 EGF-like 2; calcium-binding (Potential). cell differentiation membrane calcium ion binding skin(1) 1 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) CCGGATGGTTCCTGCTCAAGT 0.488 NaN 0 0 0 0.019004 0 35 95 ANK2 287 broad.mit.edu 37 4 114276414 114276414 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:114276414C>A uc003ibe.3 + 38 6740 c.6640C>A c.(6640-6642)CCG>ACG p.P2214T ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.P2229T NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 2181 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) AGCCGGCTCTCCGTGTGGCAG 0.517 NaN 1 0 1.07234e-20 0.01441 1.31671e-20 50 74 C4orf31 79625 broad.mit.edu 37 4 121958321 121958321 + Nonsense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:121958321G>A uc003idq.1 - 4 1332 c.805C>T c.(805-807)CAG>TAG p.Q269* NM_024574 NP_078850 Q8TB73 CD031_HUMAN hypothetical protein LOC79625 precursor 269 Fibronectin type-III 1. 0 GGCTTTGCCTGGAAACTGCGT 0.463 NaN 0 0 0 0.01892 0 24 41 FAT4 79633 broad.mit.edu 37 4 126336381 126336381 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:126336381C>T uc003ifj.3 + 5 6263 c.6263C>T c.(6262-6264)ACT>ATT p.T2088I FAT4_uc011cgp.1_Missense_Mutation_p.T386I NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 2088 Cadherin 20.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 ATTGAGTACACTCTGCTGAAC 0.403 NaN 0 0 0 0.01441 0 97 91 ZNF827 152485 broad.mit.edu 37 4 146807045 146807045 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:146807045C>A uc003ikn.2 - 4 1580 c.1532G>T c.(1531-1533)AGC>ATC p.S511I ZNF827_uc003ikm.2_Missense_Mutation_p.S511I|ZNF827_uc010iox.2_Missense_Mutation_p.S161I NM_178835 NP_849157 Q17R98 ZN827_HUMAN zinc finger protein 827 511 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_hematologic(180;0.151) CCCTCCCTGGCTAGTCCTCTC 0.602 NaN 1 0 4.96213e-28 0.01441 6.41954e-28 57 47 DCHS2 54798 broad.mit.edu 37 4 155158070 155158070 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:155158070C>A uc003inw.2 - 25 6369 c.6369G>T c.(6367-6369)TGG>TGT p.W2123C NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 2123 Cadherin 19. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TTTCACGGGTCCAGTCATGGT 0.378 NaN 1 0 6.3091e-27 0.01441 8.06809e-27 58 70 FSTL5 56884 broad.mit.edu 37 4 162463736 162463736 + Silent SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:162463736C>T uc003iqh.2 - 9 1561 c.1125G>A c.(1123-1125)TTG>TTA p.L375L FSTL5_uc003iqi.2_Silent_p.L374L|FSTL5_uc010iqv.2_Silent_p.L374L NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 375 Ig-like 2. extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TTCCATTCTTCAACCAGCCAA 0.443 NaN 0 0 0 0.009718 0 42 59 WDR17 116966 broad.mit.edu 37 4 177098267 177098267 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:177098267G>A uc003iuj.2 + 29 3781 c.3625G>A c.(3625-3627)GAA>AAA p.E1209K WDR17_uc003iuk.2_Missense_Mutation_p.E1185K|WDR17_uc003ium.3_Missense_Mutation_p.E1170K|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.E420K NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 1209 ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) TCTTTCTGAGGAATTGGATGC 0.363 NaN 0 0 0 0.021523 0 21 48 SNX25 83891 broad.mit.edu 37 4 186188167 186188167 + Missense_Mutation SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:186188167A>G uc003ixh.2 + 5 646 c.457A>G c.(457-459)AAC>GAC p.N153D NM_031953 NP_114159 Q9H3E2 SNX25_HUMAN sorting nexin 25 153 PXA. cell communication|protein transport endosome membrane phosphatidylinositol binding|signal transducer activity ovary(2)|breast(2)|pancreas(1) 5 all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228) AGATTACATTAACCAAATGCT 0.453 NaN 0 0 0 0.006999 0 37 65 TRIML1 339976 broad.mit.edu 37 4 189068457 189068457 + Silent SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:189068457C>A uc003izm.1 + 6 1453 c.1338C>A c.(1336-1338)TCC>TCA p.S446S TRIML1_uc003izn.1_Silent_p.S170S NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 446 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding ovary(1)|pancreas(1)|breast(1)|skin(1) 4 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) CTATCTTTTCCCCCTGCCTCC 0.562 NaN 1 0 8.69298e-16 0.006999 1.00933e-15 40 90 SLC12A7 10723 broad.mit.edu 37 5 1064299 1064299 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr5:1064299G>T uc003jbu.2 - 19 2572 c.2506C>A c.(2506-2508)CAA>AAA p.Q836K NM_006598 NP_006589 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride 836 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity skin(2)|large_intestine(1)|ovary(1) 4 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) TCCTGGTTTTGCGGAAACGAG 0.672 NaN 1 0 2.23348e-06 0.004007 2.31698e-06 15 29 SLC6A3 6531 broad.mit.edu 37 5 1441523 1441523 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr5:1441523G>T uc003jck.2 - 3 490 c.369C>A c.(367-369)TTC>TTA p.F123L NM_001044 NP_001035 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter 123 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body ovary(3)|breast(2)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) CTTCCCTGTTGAACTGGCCGA 0.587 NaN 1 0 6.50621e-10 0.013726 7.05263e-10 33 23 CCT5 22948 broad.mit.edu 37 5 10254301 10254301 + Silent SNP A A C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr5:10254301A>C uc003jeq.2 + 2 321 c.150A>C c.(148-150)ACA>ACC p.T50T CCT5_uc011cmq.1_Intron|CCT5_uc003jer.2_Silent_p.T50T|CCT5_uc010its.2_Silent_p.T50T|CCT5_uc011cmr.1_Silent_p.T50T|CCT5_uc011cms.1_Silent_p.T12T|CCT5_uc011cmt.1_Silent_p.T12T NM_012073 NP_036205 P48643 TCPE_HUMAN chaperonin containing TCP1, subunit 5 (epsilon) 50 'de novo' posttranslational protein folding|response to virus microtubule organizing center|nucleolus ATP binding|unfolded protein binding ovary(2) 2 CAATGAGAACATCACTTGGAC 0.328 NaN 0 0 0 0.01892 0 22 33 CTNND2 1501 broad.mit.edu 37 5 11199772 11199772 + Missense_Mutation SNP A A C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr5:11199772A>C uc003jfa.1 - 11 1908 c.1763T>G c.(1762-1764)ATA>AGA p.I588R CTNND2_uc010itt.2_Missense_Mutation_p.I497R|CTNND2_uc011cmy.1_Missense_Mutation_p.I251R|CTNND2_uc011cmz.1_Missense_Mutation_p.I155R|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.I155R NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 588 ARM 3. multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 TTGTCTCCTTATCTGAAAGAG 0.448 NaN 0 0 0 0.007413 0 20 30 FBXL7 23194 broad.mit.edu 37 5 15928355 15928355 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr5:15928355G>A uc003jfn.1 + 3 965 c.484G>A c.(484-486)GAG>AAG p.E162K NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 162 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(1) 3 CCTGACGGGCGAGACCATCAA 0.662 NaN 0 0 0 0.001168 0 6 13 ADAMTS12 81792 broad.mit.edu 37 5 33576746 33576746 + Missense_Mutation SNP A A T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr5:33576746A>T uc003jia.1 - 19 3548 c.3385T>A c.(3385-3387)TTG>ATG p.L1129M ADAMTS12_uc010iuq.1_Missense_Mutation_p.L1044M NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1129 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 GAAGATGACAAGCCAGAACCA 0.483 NaN HNSCC(64;0.19) 0 0 0 0.007291 0 30 68 SPEF2 79925 broad.mit.edu 37 5 35700720 35700720 + Missense_Mutation SNP A A C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr5:35700720A>C uc003jjo.2 + 16 2375 c.2264A>C c.(2263-2265)AAA>ACA p.K755T SPEF2_uc003jjq.3_Missense_Mutation_p.K750T|SPEF2_uc003jjp.1_Missense_Mutation_p.K241T NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 755 Potential. nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GAAAGAAAAAAAGCACAAAAA 0.383 NaN 0 0 0 0.016723 0 12 38 ITGA1 3672 broad.mit.edu 37 5 52183724 52183724 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr5:52183724C>G uc003jou.2 + 8 903 c.851C>G c.(850-852)TCT>TGT p.S284C ITGA1_uc003jov.2_RNA NM_181501 NP_852478 P56199 ITA1_HUMAN integrin, alpha 1 precursor 284 Extracellular (Potential).|VWFA. axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity ovary(2)|lung(1) 3 Lung NSC(810;5.05e-05)|Breast(144;0.0851) GATGGAGAGTCTCATGACAAT 0.423 NaN 0 0 0 0.013537 0 11 49 DMXL1 1657 broad.mit.edu 37 5 118485427 118485427 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr5:118485427C>A uc003ksd.2 + 18 4086 c.3905C>A c.(3904-3906)CCT>CAT p.P1302H DMXL1_uc010jcl.1_Missense_Mutation_p.P1302H NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 1302 ovary(2) 2 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) GCATTCGATCCTTCAGTGGAT 0.438 NaN 1 0 2.76378e-25 0.01441 3.50206e-25 51 20 MEGF10 84466 broad.mit.edu 37 5 126754869 126754869 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr5:126754869C>T uc003kuh.3 + 12 1725 c.1363C>T c.(1363-1365)CGC>TGC p.R455C MEGF10_uc010jdc.1_Missense_Mutation_p.R455C|MEGF10_uc010jdd.1_Missense_Mutation_p.R455C|MEGF10_uc003kui.3_Missense_Mutation_p.R455C NM_032446 NP_115822 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 precursor 455 Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.|EGF-like 8. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup ovary(4) 4 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) CTGTTCCTCTCGCTGTGGCTG 0.458 NaN 0 0 0 0.021523 0 23 107 C5orf56 441108 broad.mit.edu 37 5 131821922 131821922 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr5:131821922C>A uc010jds.1 + 4 258 c.83C>A c.(82-84)GCC>GAC p.A28D IRF1_uc003kxd.2_Intron|IRF1_uc003kxa.2_Intron|IRF1_uc003kxb.2_Intron|IRF1_uc010jdt.1_Intron Q8N8D9 CE056_HUMAN Homo sapiens full length insert cDNA clone ZA99C08. Error:Variant_position_missing_in_Q8N8D9_after_alignment 0 AGCAGGCAGGCCAGGCCCCAG 0.557 NaN 1 0 2.32078e-09 0.003163 2.49619e-09 14 70 PCDHA1 56147 broad.mit.edu 37 5 140167598 140167598 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr5:140167598G>A uc003lhb.2 + 1 1723 c.1723G>A c.(1723-1725)GGT>AGT p.G575S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.G575S NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 575 Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGCACTATTGGTGCAGTCAG 0.672 NaN 0 0 0 0.01441 0 91 44 PCDHA6 56142 broad.mit.edu 37 5 140209725 140209725 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr5:140209725G>A uc003lho.2 + 1 2076 c.2049G>A c.(2047-2049)TCG>TCA p.S683S 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_uc011dab.1_Silent_p.S683S NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 683 Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACGGGCGTCGGTGGGCGCCG 0.667 NaN 0 0 0 0.01441 0 80 30 PCDHGA6 56109 broad.mit.edu 37 5 140755960 140755960 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr5:140755960C>A uc003ljy.1 + 1 2310 c.2310C>A c.(2308-2310)TTC>TTA p.F770L 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_uc011dau.1_Missense_Mutation_p.F770L NM_018919 NP_061742 Q9Y5G7 PCDG6_HUMAN protocadherin gamma subfamily A, 6 isoform 1 770 Cytoplasmic (Potential). 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) ATCTGATTTTCCCCCAGCCCA 0.517 NaN 1 0 3.89792e-41 0.01441 5.3416e-41 80 30 FAT2 2196 broad.mit.edu 37 5 150925116 150925116 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr5:150925116C>G uc003lue.3 - 9 5585 c.5572G>C c.(5572-5574)GTC>CTC p.V1858L GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 1858 Extracellular (Potential).|Cadherin 16. 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) TGAATGATGACTTGGGCAGGT 0.463 NaN 0 0 0 0.00499 0 17 66 FAT2 2196 broad.mit.edu 37 5 150945387 150945387 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr5:150945387C>A uc003lue.3 - 1 3119 c.3106G>T c.(3106-3108)GTG>TTG p.V1036L GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.V1036L NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 1036 Cadherin 9.|Extracellular (Potential). 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) CCCTGGTGCACGAAGGAGGCA 0.602 NaN 1 0 2.17888e-05 0.006214 2.23526e-05 9 44 KIF4B 285643 broad.mit.edu 37 5 154393911 154393911 + Silent SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr5:154393911G>T uc010jih.1 + 1 652 c.492G>T c.(490-492)CGG>CGT p.R164R NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 164 Kinesin-motor. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity ovary(1) 1 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TAAATATACGGGAGGATCCTA 0.388 NaN 1 0 2.89027e-11 0.014323 3.20179e-11 19 124 DOCK2 1794 broad.mit.edu 37 5 169101351 169101351 + Silent SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr5:169101351G>C uc003maf.2 + 6 452 c.372G>C c.(370-372)CTG>CTC p.L124L DOCK2_uc011der.1_RNA NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 124 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGTACGATCTGATGGAGTGGA 0.478 NaN 0 0 0 0.01441 0 50 23 SLC34A1 6569 broad.mit.edu 37 5 176815166 176815166 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr5:176815166G>T uc003mgk.3 + 7 917 c.816G>T c.(814-816)GAG>GAT p.E272D NM_003052 NP_003043 Q06495 NPT2A_HUMAN solute carrier family 34 (sodium phosphate), 272 Extracellular (Potential). phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport brush border membrane|integral to plasma membrane protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity ovary(1) 1 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCATCACAGAGCCCTTCACGA 0.597 NaN 1 0 7.63091e-17 0.007835 9.01097e-17 41 13 GRM6 2916 broad.mit.edu 37 5 178410002 178410002 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr5:178410002G>A uc003mjr.2 - 9 2524 c.2345C>T c.(2344-2346)GCC>GTC p.A782V GRM6_uc003mjq.2_Missense_Mutation_p.A185V NM_000843 NP_000834 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 precursor 782 Cytoplasmic (Potential). detection of visible light|visual perception integral to plasma membrane lung(4)|ovary(2)|breast(1)|pancreas(1) 8 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) GATGGGCTTGGCCTCGTTGAA 0.587 NaN 0 0 0 0.01441 0 78 26 HUS1B 135458 broad.mit.edu 37 6 656803 656803 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr6:656803C>G uc003mtg.2 - 1 162 c.142G>C c.(142-144)GGC>CGC p.G48R EXOC2_uc003mtd.2_Intron|EXOC2_uc003mte.2_Intron|EXOC2_uc011dho.1_Intron NM_148959 NP_683762 Q8NHY5 HUS1B_HUMAN HUS1 checkpoint protein B 48 0 Ovarian(93;0.0733) Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965) TCGTGGAGGCCGCCGGAACCC 0.667 NaN 0 0 0 0.020292 0 14 7 TUBB2A 7280 broad.mit.edu 37 6 3154784 3154784 + Silent SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr6:3154784C>G uc003mvc.2 - 4 737 c.651G>C c.(649-651)CTG>CTC p.L217L TUBB2A_uc003mvb.2_Silent_p.L210L|TUBB2A_uc003mvd.2_Silent_p.L180L NM_001069 NP_001060 Q13885 TBB2A_HUMAN tubulin, beta 2 217 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity skin(1) 1 Ovarian(93;0.0386) all_hematologic(90;0.0895) TGGGGGTGGTCAGCTTCAGGG 0.612 NaN 0 0 0 0.01441 0 49 71 RANBP9 10048 broad.mit.edu 37 6 13644837 13644837 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr6:13644837G>A uc003nbb.2 - 6 1111 c.1052C>T c.(1051-1053)GCA>GTA p.A351V RANBP9_uc003nba.2_Missense_Mutation_p.A10V NM_005493 NP_005484 Q96S59 RANB9_HUMAN RAN binding protein 9 351 axon guidance|microtubule nucleation|protein complex assembly cytosol|microtubule associated complex|nucleus Ran GTPase binding lung(1)|skin(1) 2 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.223) ATCTATCTGTGCCTGGATTTT 0.413 NaN 0 0 0 0.01441 0 73 90 C6orf62 81688 broad.mit.edu 37 6 24716501 24716501 + Missense_Mutation SNP T T G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr6:24716501T>G uc003nel.2 - 2 688 c.181A>C c.(181-183)AAT>CAT p.N61H NM_030939 NP_112201 Q9GZU0 CF062_HUMAN hypothetical protein LOC81688 61 intracellular 0 TCATAATTATTTGTCATGACT 0.398 NaN 0 0 0 0.013726 0 34 34 PPP1R10 5514 broad.mit.edu 37 6 30571979 30571979 + Silent SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr6:30571979C>A uc003nqn.1 - 14 1866 c.1314G>T c.(1312-1314)CTG>CTT p.L438L PPP1R10_uc010jsc.1_Silent_p.L92L NM_002714 NP_002705 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 438 Essential for PPP1CA inhibition (By similarity).|Interaction with WDR82 (By similarity). protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding ovary(2)|lung(1)|kidney(1) 4 GTCGGTCTGACAGTATCTCTC 0.542 NaN 1 0 9.04393e-38 0.01441 1.23024e-37 68 72 TNXB 7148 broad.mit.edu 37 6 31978813 31978813 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr6:31978813C>T uc011dpc.1 - 4 1585 c.676G>A c.(676-678)GAG>AAG p.E226K STK19_uc003nza.2_5'Flank|STK19_uc003nzb.2_5'Flank NM_032470 NP_115859 P22105 TENX_HUMAN tenascin XB isoform 2 3842 Fibronectin type-III 30. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 CTCTGAGGCTCCCCTGAAAAC 0.637 NaN 0 0 0 0.01441 0 51 48 MDFI 4188 broad.mit.edu 37 6 41621214 41621214 + Silent SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr6:41621214G>T uc003oqp.3 + 6 971 c.642G>T c.(640-642)CTG>CTT p.L214L MDFI_uc003oqq.3_Silent_p.L214L|MDFI_uc010jxn.2_Silent_p.L214L NM_005586 NP_005577 Q99750 MDFI_HUMAN MyoD family inhibitor 214 Cys-rich. cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway cytoplasm|nucleus 0 Ovarian(28;0.0327)|Colorectal(47;0.121) Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138) ACTGCGACCTGCCCTGCGACC 0.657 NaN 1 0 3.46703e-50 0.01441 4.8714e-50 97 112 PRPH2 5961 broad.mit.edu 37 6 42689673 42689673 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr6:42689673G>T uc003osk.2 - 1 686 c.400C>A c.(400-402)CTC>ATC p.L134I NM_000322 NP_000313 P23942 PRPH2_HUMAN peripherin 2 134 Lumenal (Potential). cell adhesion|visual perception integral to membrane ovary(4)|central_nervous_system(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904) CCGTTCTTGAGCCCTTGGCCC 0.542 NaN 1 0 1.30293e-26 0.015359 1.66236e-26 33 43 COL19A1 1310 broad.mit.edu 37 6 70890380 70890380 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr6:70890380G>T uc003pfc.1 + 44 2857 c.2740G>T c.(2740-2742)GGT>TGT p.G914C NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 914 Triple-helical region 5 (COL5). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 TGGAGATATAGGTTTCCCTGG 0.398 NaN 1 0 2.56662e-36 0.013114 3.47432e-36 40 46 IMPG1 3617 broad.mit.edu 37 6 76751757 76751757 + Missense_Mutation SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr6:76751757A>G uc003pik.1 - 2 284 c.154T>C c.(154-156)TAC>CAC p.Y52H NM_001563 NP_001554 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 52 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) GACATTTTGTACATTTTTTCA 0.358 NaN 0 0 0 0.01441 0 59 55 SNX14 57231 broad.mit.edu 37 6 86227735 86227735 + Silent SNP T T C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr6:86227735T>C uc003pkr.2 - 22 2332 c.2139A>G c.(2137-2139)CTA>CTG p.L713L SNX14_uc003pkp.2_Silent_p.L576L|SNX14_uc003pkq.2_Silent_p.L319L|SNX14_uc011dzg.1_Silent_p.L661L|SNX14_uc003pks.2_Silent_p.L660L|SNX14_uc003pkt.2_Silent_p.L704L NM_153816 NP_722523 Q9Y5W7 SNX14_HUMAN sorting nexin 14 isoform a 713 cell communication|protein transport integral to membrane phosphatidylinositol binding|signal transducer activity 0 all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24) BRCA - Breast invasive adenocarcinoma(108;0.0423) CCTCTTTCATTAGTTTTCCAG 0.254 NaN 0 0 0 0.01441 0 45 55 SFRS13B 135295 broad.mit.edu 37 6 89808433 89808433 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr6:89808433G>A uc003pmy.3 - 5 844 c.650C>T c.(649-651)TCT>TTT p.S217F NM_080743 NP_542781 Q8WXF0 SRS12_HUMAN serine-arginine repressor protein 217 Arg/Ser-rich (RS domain). assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome nucleoplasm nucleotide binding|RNA binding|RS domain binding|unfolded protein binding 0 TATTGAGTCAGAATGTCTTCC 0.398 NaN 0 0 0 0.01441 0 76 80 GABRR1 2569 broad.mit.edu 37 6 89910940 89910940 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr6:89910940G>T uc003pna.2 - 3 673 c.218C>A c.(217-219)ACA>AAA p.T73K GABRR1_uc011dzv.1_Missense_Mutation_p.T50K NM_002042 NP_002033 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) receptor, rho 1 73 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity pancreas(1) 1 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) TTCTGACTTTGTCAGAGGCGA 0.473 NaN 1 0 2.25582e-47 0.01441 3.12214e-47 73 105 BACH2 60468 broad.mit.edu 37 6 90661238 90661238 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr6:90661238G>T uc011eab.1 - 7 1396 c.587C>A c.(586-588)GCC>GAC p.A196D BACH2_uc003pnw.2_Missense_Mutation_p.A196D|BACH2_uc010kch.2_Missense_Mutation_p.A196D NM_021813 NP_068585 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper 196 nucleus protein dimerization activity|sequence-specific DNA binding ovary(3)|pancreas(1)|lung(1)|skin(1) 6 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) TACGGGGATGGCGGCGGCCTC 0.602 NaN 1 0 1.86277e-20 0.01441 2.26719e-20 53 57 GRIK2 2898 broad.mit.edu 37 6 102372594 102372594 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr6:102372594G>A uc003pqp.3 + 12 2116 c.1867G>A c.(1867-1869)GGT>AGT p.G623S GRIK2_uc003pqo.3_Missense_Mutation_p.G623S|GRIK2_uc010kcw.2_Missense_Mutation_p.G623S NM_021956 NP_068775 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 623 Cytoplasmic (Potential). glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|pancreas(1)|breast(1)|skin(1) 5 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) CATGCAGCAAGGTATACGATT 0.498 NaN 0 0 0 0.004007 0 14 46 LAMA2 3908 broad.mit.edu 37 6 129636975 129636975 + Silent SNP T T C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr6:129636975T>C uc003qbn.2 + 26 3909 c.3804T>C c.(3802-3804)TCT>TCC p.S1268S LAMA2_uc003qbo.2_Silent_p.S1268S NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1268 Laminin IV type A 2. 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) CAGGTTTCTCTACATATAATC 0.438 NaN 0 0 0 0.01441 0 62 58 PEX3 8504 broad.mit.edu 37 6 143784110 143784110 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr6:143784110G>A uc003qjl.2 + 3 525 c.263G>A c.(262-264)AGC>AAC p.S88N PEX3_uc011edx.1_Missense_Mutation_p.S88N NM_003630 NP_003621 P56589 PEX3_HUMAN peroxisomal biogenesis factor 3 88 Peroxisomal (Potential). protein import into peroxisome membrane|transmembrane transport integral to peroxisomal membrane protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117) AATTCCGAGAGCCTCACAGCT 0.358 NaN 0 0 0 0.00874 0 38 33 PSMB1 5689 broad.mit.edu 37 6 170862291 170862291 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr6:170862291C>G uc011ehe.1 - 1 127 c.40G>C c.(40-42)GAC>CAC p.D14H PSMB1_uc003qxq.2_RNA|PSMB1_uc003qxr.2_5'Flank|TBP_uc003qxt.2_5'Flank|TBP_uc003qxu.2_5'Flank|TBP_uc011ehf.1_5'Flank NM_002793 NP_002784 P20618 PSB1_HUMAN proteasome beta 1 subunit precursor 14 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cell junction|cytoplasm|nucleus|proteasome core complex protein binding|threonine-type endopeptidase activity ovary(1) 1 Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643) Bortezomib(DB00188) ATCCCCAAGTCTCTGCCAGGA 0.597 NaN 0 0 0 0.006214 0 7 19 EIF3B 8662 broad.mit.edu 37 7 2404033 2404033 + Nonsense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:2404033G>A uc003slx.2 + 6 1109 c.1026G>A c.(1024-1026)TGG>TGA p.W342* EIF3B_uc003sly.2_Nonsense_Mutation_p.W342*|EIF3B_uc003slz.1_Nonsense_Mutation_p.W303*|EIF3B_uc003sma.2_Nonsense_Mutation_p.W70* NM_003751 NP_003742 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, 342 Sufficient for interaction with EIF3E.|WD 1. regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) ATGTGCGTTGGTCTCCTAAGG 0.463 NaN 0 0 0 0.01441 0 97 95 SDK1 221935 broad.mit.edu 37 7 4153858 4153858 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:4153858G>T uc003smx.2 + 25 3914 c.3775G>T c.(3775-3777)GGG>TGG p.G1259W SDK1_uc010kso.2_Missense_Mutation_p.G535W NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1259 Fibronectin type-III 6. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CAACGCCGTCGGGGCTGGGCC 0.642 NaN 1 0 2.44723e-14 0.004656 2.81204e-14 26 21 RBAK 57786 broad.mit.edu 37 7 5103373 5103373 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:5103373G>A uc010kss.1 + 6 610 c.286G>A c.(286-288)GAC>AAC p.D96N LOC389458_uc003snr.2_Missense_Mutation_p.D96N|RBAK_uc003sns.1_Missense_Mutation_p.D96N NM_021163 NP_066986 Q9NYW8 RBAK_HUMAN RB-associated KRAB repressor 96 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(3)|kidney(1)|skin(1) 5 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) AGAAAACGAAGACAAACATTC 0.363 NaN 0 0 0 0.012319 0 19 28 MIOS 54468 broad.mit.edu 37 7 7636000 7636000 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:7636000C>A uc003srf.2 + 11 2617 c.2309C>A c.(2308-2310)TCT>TAT p.S770Y MIOS_uc003srg.2_Missense_Mutation_p.S305Y|MIOS_uc010ktq.2_Missense_Mutation_p.S165Y NM_019005 NP_061878 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog 770 0 CCAACGAAATCTAAAGTCACA 0.468 NaN 1 0 1.52009e-12 0.003163 1.70779e-12 16 134 AHR 196 broad.mit.edu 37 7 17379440 17379440 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:17379440G>T uc011jxz.1 + 10 2604 c.1991G>T c.(1990-1992)TGT>TTT p.C664F AHR_uc003stt.3_RNA NM_001621 NP_001612 P35869 AHR_HUMAN aryl hydrocarbon receptor precursor 664 apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding urinary_tract(1)|kidney(1)|pancreas(1) 3 Lung NSC(10;0.0392)|all_lung(11;0.0754) CCTTTCAATTGTCCACAGCAA 0.408 NaN 1 0 6.71967e-41 0.01441 9.18575e-41 81 78 HNRNPA2B1 3181 broad.mit.edu 37 7 26236509 26236509 + Missense_Mutation SNP T T C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:26236509T>C uc003sxr.3 - 5 645 c.429A>G c.(427-429)ATA>ATG p.I143M HNRNPA2B1_uc003sxs.3_Missense_Mutation_p.I131M NM_031243 NP_112533 P22626 ROA2_HUMAN heterogeneous nuclear ribonucleoprotein A2/B1 143 RRM 2. RNA transport catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding ovary(1)|central_nervous_system(1)|skin(1) 3 TATCAGTAATTATCTCAATGG 0.368 NaN T ETV1 prostate 0 0 0 0.01441 0 108 94 HECW1 23072 broad.mit.edu 37 7 43503285 43503285 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:43503285C>G uc003tid.1 + 14 3283 c.2678C>G c.(2677-2679)GCA>GGA p.A893G HECW1_uc011kbi.1_Missense_Mutation_p.A859G NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 893 Potential. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 CGAACCATTGCAACAGAGAGG 0.498 NaN 0 0 0 0.01441 0 51 73 WBSCR22 114049 broad.mit.edu 37 7 73101013 73101013 + Missense_Mutation SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:73101013A>G uc003tyt.2 + 3 192 c.134A>G c.(133-135)GAG>GGG p.E45G WBSCR22_uc010lbi.1_RNA|WBSCR22_uc003tyu.2_Missense_Mutation_p.E45G|WBSCR22_uc003tyv.2_Missense_Mutation_p.E7G|WBSCR22_uc003tyw.1_5'UTR NM_017528 NP_059998 O43709 WBS22_HUMAN Williams Beuren syndrome chromosome region 22 45 nucleus methyltransferase activity 0 Lung NSC(55;0.0908)|all_lung(88;0.198) CGAGCATTGGAGCTTCTTTAT 0.483 NaN 0 0 0 0.01441 0 86 113 SEMA3D 223117 broad.mit.edu 37 7 84628764 84628764 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:84628764C>T uc003uic.2 - 17 2366 c.2326G>A c.(2326-2328)GCC>ACC p.A776T SEMA3D_uc010led.2_Missense_Mutation_p.A776T|SEMA3D_uc003uib.2_Missense_Mutation_p.A415T NM_152754 NP_689967 O95025 SEM3D_HUMAN semaphorin 3D precursor 776 cell differentiation|nervous system development extracellular region|membrane receptor activity ovary(3)|large_intestine(2) 5 AACTACGTGGCTACAGCTCTA 0.393 NaN 0 0 0 0.021523 0 26 43 ABCB1 5243 broad.mit.edu 37 7 87179515 87179515 + Missense_Mutation SNP T T C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:87179515T>C uc003uiz.1 - 13 1740 c.1322A>G c.(1321-1323)CAG>CGG p.Q441R ABCB1_uc011khc.1_Missense_Mutation_p.Q377R NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 441 ABC transporter 1.|Cytoplasmic (Potential). G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) ATAGAGCCTCTGCATCAGCTG 0.552 NaN 0 0 0 0.009535 0 31 47 TRRAP 8295 broad.mit.edu 37 7 98487961 98487961 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:98487961G>A uc003upp.2 + 4 363 c.154G>A c.(154-156)GTC>ATC p.V52I TRRAP_uc011kis.1_Missense_Mutation_p.V52I NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 52 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CAATTAGAATGTCACGTCATC 0.328 NaN 0 0 0 0.016522 0 22 24 SH2B2 10603 broad.mit.edu 37 7 101944428 101944428 + Silent SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:101944428G>C uc011kko.1 + 2 768 c.723G>C c.(721-723)GGG>GGC p.G241G NM_020979 NP_066189 O14492 SH2B2_HUMAN SH2B adaptor protein 2 198 PH. blood coagulation|insulin receptor signaling pathway|intracellular signal transduction cytosol|plasma membrane JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity 0 AACGCGAGGGGGCGCTGCGCT 0.746 NaN 0 0 0 0.00308 0 7 5 RINT1 60561 broad.mit.edu 37 7 105190500 105190500 + Splice_Site SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:105190500A>G uc003vda.1 + 8 1228 c.997_splice c.e8-2 p.P333_splice RINT1_uc010ljj.1_Intron NM_021930 NP_068749 Q6NUQ1 RINT1_HUMAN RAD50 interactor 1 cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport endoplasmic reticulum membrane protein binding ovary(3)|central_nervous_system(1) 4 CTCCTTCCTTAGCCAGAATGG 0.328 NaN 0 0 0 0.016522 0 23 30 CTTNBP2 83992 broad.mit.edu 37 7 117424464 117424464 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:117424464C>T uc003vjf.2 - 5 2205 c.2113G>A c.(2113-2115)GCC>ACC p.A705T NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 705 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) GCCAGGGGGGCAGGACCACCA 0.507 NaN 0 0 0 0.01441 0 79 66 SMO 6608 broad.mit.edu 37 7 128850354 128850354 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:128850354G>A uc003vor.2 + 9 1897 c.1617G>A c.(1615-1617)AAG>AAA p.K539K SMO_uc003vos.2_Silent_p.K214K NM_005631 NP_005622 Q99835 SMO_HUMAN smoothened precursor 539 Helical; Name=7; (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 TCTGGACCAAGGCCACGCTGC 0.607 NaN Mis skin basal cell OREG0018305 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.01441 0 47 71 SLC13A4 26266 broad.mit.edu 37 7 135376027 135376027 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:135376027C>G uc003vta.2 - 13 2054 c.1365G>C c.(1363-1365)TGG>TGC p.W455C SLC13A4_uc003vtb.2_Missense_Mutation_p.W456C|PL-5283_uc003vsz.3_Intron NM_012450 NP_036582 Q9UKG4 S13A4_HUMAN solute carrier family 13 (sodium/sulfate 455 integral to plasma membrane sodium:sulfate symporter activity 0 GGAAGTCCTTCCACGTGATGA 0.498 NaN 0 0 0 0.013726 0 34 46 MGAM 8972 broad.mit.edu 37 7 141747614 141747614 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:141747614C>A uc003vwy.2 + 22 2582 c.2528C>A c.(2527-2529)GCC>GAC p.A843D NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 843 Lumenal (Potential).|Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CTTATCATTGCCCTAGATGAG 0.438 NaN 1 0 3.27435e-08 0.020292 3.45488e-08 10 16 SSPO 23145 broad.mit.edu 37 7 149482090 149482090 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:149482090G>A uc010lpk.2 + 20 2878 c.2878G>A c.(2878-2880)GGC>AGC p.G960S SSPO_uc010lpl.1_Silent_p.Q295Q NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 960 cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CTGTCCACCAGGCACGGTGCT 0.627 NaN 0 0 0 0.012319 0 22 17 ASB10 136371 broad.mit.edu 37 7 150878038 150878038 + Silent SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:150878038C>G uc003wjm.1 - 3 1353 c.1227G>C c.(1225-1227)GGG>GGC p.G409G ASB10_uc003wjl.1_Silent_p.G409G|ASB10_uc003wjn.1_Silent_p.G349G NM_001142459 NP_001135931 Q8WXI3 ASB10_HUMAN ankyrin repeat and SOCS box-containing 10 364 intracellular signal transduction 0 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGGGGAGGGCCCCTGGCCAGA 0.682 NaN 0 0 0 0.003163 0 15 15 PTPRN2 5799 broad.mit.edu 37 7 157874068 157874068 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:157874068C>A uc003wno.2 - 11 1766 c.1645G>T c.(1645-1647)GTT>TTT p.V549F PTPRN2_uc003wnp.2_Missense_Mutation_p.V532F|PTPRN2_uc003wnq.2_Missense_Mutation_p.V520F|PTPRN2_uc003wnr.2_Missense_Mutation_p.V511F|PTPRN2_uc011kwa.1_Missense_Mutation_p.V572F NM_002847 NP_002838 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N 549 Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(4)|large_intestine(1)|pleura(1)|skin(1) 7 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) GGTCCGAGAACCCTGGAAGGG 0.448 NaN 1 0 1.05386e-31 0.01441 1.40262e-31 49 44 VIPR2 7434 broad.mit.edu 37 7 158824638 158824638 + Silent SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:158824638C>T uc003woh.2 - 11 1278 c.1092G>A c.(1090-1092)GGG>GGA p.G364G VIPR2_uc010lqx.2_RNA NM_003382 NP_003373 P41587 VIPR2_HUMAN vasoactive intestinal peptide receptor 2 364 Helical; Name=7; (Potential). cell-cell signaling integral to plasma membrane lung(1)|central_nervous_system(1) 2 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) CCTGGAACGACCCGAGGCACA 0.607 NaN 0 0 0 0.01441 0 64 67 DLGAP2 9228 broad.mit.edu 37 8 1497669 1497669 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr8:1497669G>C uc003wpl.2 + 2 907 c.810G>C c.(808-810)AAG>AAC p.K270N DLGAP2_uc003wpm.2_Missense_Mutation_p.K270N NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 349 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) ACGACGTCAAGTGCTCGGCCT 0.672 NaN 0 0 0 0.01441 0 65 7 CSMD1 64478 broad.mit.edu 37 8 2944710 2944710 + Silent SNP A A T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr8:2944710A>T uc011kwk.1 - 49 7776 c.7386T>A c.(7384-7386)CCT>CCA p.P2462P CSMD1_uc011kwj.1_Silent_p.P1791P|CSMD1_uc010lrg.2_Silent_p.P530P NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2462 Sushi 14.|Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TTCGGTATCCAGGCTTGCAAA 0.522 NaN 0 0 0 0.01441 0 56 3 PTK2B 2185 broad.mit.edu 37 8 27297834 27297834 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr8:27297834G>C uc003xfn.1 + 26 2723 c.1915G>C c.(1915-1917)GAG>CAG p.E639Q PTK2B_uc003xfo.1_Missense_Mutation_p.E639Q|PTK2B_uc003xfp.1_Missense_Mutation_p.E639Q|PTK2B_uc003xfq.1_Missense_Mutation_p.E639Q|PTK2B_uc003xfr.1_Missense_Mutation_p.E385Q NM_173174 NP_775266 Q14289 FAK2_HUMAN PTK2B protein tyrosine kinase 2 beta isoform a 639 Protein kinase. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity lung(3)|ovary(1)|skin(1) 5 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) CGGGGTGCTGGAGAAAGGAGA 0.607 NaN 0 0 0 0.008361 0 28 31 CHRNA2 1135 broad.mit.edu 37 8 27327365 27327365 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr8:27327365G>A uc010lur.2 - 3 816 c.207C>T c.(205-207)GGC>GGT p.G69G CHRNA2_uc011lal.1_Silent_p.G69G|CHRNA2_uc010lus.2_5'UTR NM_000742 NP_000733 Q15822 ACHA2_HUMAN cholinergic receptor, nicotinic, alpha 69 Extracellular. cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity ovary(1) 1 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136) Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine(DB01336)|Metocurine Iodide(DB00416)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199) AGCGGTTGTAGCCCCGGAAGA 0.622 NaN 0 0 0 0.01441 0 77 9 GPR124 25960 broad.mit.edu 37 8 37698748 37698748 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr8:37698748G>T uc003xkj.2 + 19 3255 c.2892G>T c.(2890-2892)AGG>AGT p.R964S GPR124_uc010lvy.2_Missense_Mutation_p.R747S NM_032777 NP_116166 Q96PE1 GP124_HUMAN G protein-coupled receptor 124 precursor 964 Cytoplasmic (Potential). central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity large_intestine(2)|ovary(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) GCAACAGCAGGGCCTCCCTGG 0.637 NaN 1 0 2.75727e-19 0.021022 3.30515e-19 38 155 BRF2 55290 broad.mit.edu 37 8 37702487 37702487 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr8:37702487G>A uc003xkk.2 - 4 891 c.781C>T c.(781-783)CCG>TCG p.P261S NM_018310 NP_060780 Q9HAW0 BRF2_HUMAN RNA polymerase III transcription initiation 261 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent nucleoplasm protein binding|zinc ion binding 0 Lung NSC(58;0.118)|all_lung(54;0.195) BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10) GAGGACGCCGGGTAGGGCAGG 0.587 NaN 0 0 0 0.01441 0 141 30 ADAM32 203102 broad.mit.edu 37 8 39103645 39103645 + Missense_Mutation SNP C C T rs142346085 by1000genomes TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr8:39103645C>T uc003xmt.3 + 17 2107 c.1862C>T c.(1861-1863)GCT>GTT p.A621V ADAM32_uc011lch.1_Missense_Mutation_p.A522V|ADAM32_uc003xmu.3_Missense_Mutation_p.A515V|ADAM32_uc003xmv.2_Missense_Mutation_p.A45V NM_145004 NP_659441 Q8TC27 ADA32_HUMAN a disintegrin and metalloprotease domain 32 621 Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1)|kidney(1) 3 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) ATAATTAAGGCTTCAGCACAT 0.368 NaN 0 0 0 0.013726 0 29 168 OPRK1 4986 broad.mit.edu 37 8 54142079 54142079 + Silent SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr8:54142079A>G uc003xrh.1 - 3 1296 c.921T>C c.(919-921)GCT>GCC p.A307A OPRK1_uc003xri.1_Silent_p.A307A|OPRK1_uc010lyc.1_Silent_p.A218A NM_000912 NP_000903 P41145 OPRK_HUMAN opioid receptor, kappa 1 307 Extracellular (Potential). behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding ovary(1)|skin(1) 2 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) TGGAGAGAGCAGCTGTGCTGT 0.527 NaN 0 0 0 0.004656 0 27 28 TGS1 96764 broad.mit.edu 37 8 56717578 56717578 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr8:56717578C>T uc003xsj.3 + 10 2513 c.2126C>T c.(2125-2127)GCC>GTC p.A709V TGS1_uc010lyh.2_Missense_Mutation_p.A613V NM_024831 NP_079107 Q96RS0 TGS1_HUMAN trimethylguanosine synthase homolog 709 Sufficient for catalytic activity. cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent Cajal body|cytosol RNA trimethylguanosine synthase activity ovary(1)|lung(1)|breast(1) 3 all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147) Epithelial(17;0.00027)|all cancers(17;0.00251) ATTCAGTTTGCCTTAACAGGA 0.398 NaN 0 0 0 0.010771 0 42 56 CYP7A1 1581 broad.mit.edu 37 8 59409268 59409268 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr8:59409268G>A uc003xtm.3 - 3 866 c.803C>T c.(802-804)TCC>TTC p.S268F NM_000780 NP_000771 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, 268 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding ovary(1) 1 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) ATCAAAGGTGGACAAAGTGTC 0.498 NaN Neonatal_Giant_Cell_Hepatitis 0 0 0 0.01441 0 101 132 EYA1 2138 broad.mit.edu 37 8 72211327 72211327 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr8:72211327G>C uc003xys.3 - 8 1068 c.781C>G c.(781-783)CCG>GCG p.P261A EYA1_uc003xyr.3_Missense_Mutation_p.P256A|EYA1_uc003xyt.3_Missense_Mutation_p.P228A|EYA1_uc010lzf.2_Missense_Mutation_p.P188A|EYA1_uc003xyu.2_Missense_Mutation_p.P261A|EYA1_uc011lfe.1_Missense_Mutation_p.P255A|EYA1_uc003xyv.2_Missense_Mutation_p.P139A NM_172058 NP_742055 Q99502 EYA1_HUMAN eyes absent 1 isoform b 261 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 5 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) CCAGATGGCGGTTCTTGAAGC 0.453 NaN 0 0 0 0.01441 0 51 78 CPNE3 8895 broad.mit.edu 37 8 87568404 87568404 + Missense_Mutation SNP T T G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr8:87568404T>G uc003ydv.2 + 16 1491 c.1329T>G c.(1327-1329)AAT>AAG p.N443K CPNE3_uc003ydw.1_Missense_Mutation_p.N159K NM_003909 NP_003900 O75131 CPNE3_HUMAN copine III 443 VWFA. lipid metabolic process|vesicle-mediated transport cytosol calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity ovary(1)|skin(1) 2 CTATAGTTAATGCCTCCAGGC 0.458 NaN 0 0 0 0.01441 0 62 63 KCNS2 3788 broad.mit.edu 37 8 99441294 99441294 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr8:99441294G>T uc003yin.2 + 2 1437 c.1087G>T c.(1087-1089)GCC>TCC p.A363S NM_020697 NP_065748 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, 363 voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1) 1 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) CACCATCCCTGCCTGCTGGTG 0.602 NaN 1 0 4.88482e-21 0.01441 6.01126e-21 52 51 PKHD1L1 93035 broad.mit.edu 37 8 110489565 110489565 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr8:110489565G>A uc003yne.2 + 53 9133 c.9029G>A c.(9028-9030)TGC>TAC p.C3010Y NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 3010 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CTCCAGGATTGCTTTCCTGTA 0.413 NaN HNSCC(38;0.096) 0 0 0 0.008361 0 31 25 COL14A1 7373 broad.mit.edu 37 8 121279123 121279123 + Splice_Site SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr8:121279123G>A uc003yox.2 + 25 3338 c.3073_splice c.e25+1 p.V1025_splice COL14A1_uc003yoy.2_Missense_Mutation_p.G703D NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) GCAAAAGAAGGTAAAAGAATA 0.353 NaN 0 0 0 0.01441 0 76 88 SMARCA2 6595 broad.mit.edu 37 9 2115870 2115870 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 G T G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:2115870G>T uc003zhc.2 + 25 3604 c.3505G>T c.(3505-3507)GTC>TTC p.V1169F SMARCA2_uc003zhd.2_Missense_Mutation_p.V1169F|SMARCA2_uc010mha.2_Missense_Mutation_p.V1102F NM_003070 NP_003061 P51531 SMCA2_HUMAN SWI/SNF-related matrix-associated 1169 Helicase C-terminal. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1) 3 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) GCAGAACGAGGTCCGGGTACT 0.572 NaN 1 0 6.94344e-10 0.006122 7.51191e-10 18 3 INSL4 3641 broad.mit.edu 37 9 5233806 5233806 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:5233806C>A uc003ziy.2 + 2 454 c.349C>A c.(349-351)CGT>AGT p.R117S NM_002195 NP_002186 Q14641 INSL4_HUMAN insulin-like 4 precursor 117 cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction extracellular space|soluble fraction hormone activity|insulin-like growth factor receptor binding 0 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14) GAGAAGTGGACGTCACAGATT 0.383 NaN 1 0 5.60225e-13 0.009535 6.31961e-13 29 5 IFNA4 3441 broad.mit.edu 37 9 21187497 21187497 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:21187497G>A uc003zon.2 - 1 102 c.34C>T c.(34-36)CTG>TTG p.L12L NM_021068 NP_066546 P05014 IFNA4_HUMAN interferon, alpha 4 precursor 12 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) CTGAGCACCAGCACGGCCATC 0.502 NaN 0 0 0 0.01441 0 36 9 B4GALT1 2683 broad.mit.edu 37 9 33166812 33166812 + Missense_Mutation SNP A A T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:33166812A>T uc003zsg.2 - 1 545 c.356T>A c.(355-357)GTG>GAG p.V119E NM_001497 NP_001488 P15291 B4GT1_HUMAN UDP-Gal:betaGlcNAc beta 1,4- 119 Lumenal (Potential). oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|Golgi cisterna membrane|Golgi trans cisterna|integral to membrane alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity|protein binding|protein homodimerization activity 0 LUSC - Lung squamous cell carcinoma(29;0.0084) GBM - Glioblastoma multiforme(74;0.121) N-Acetyl-D-glucosamine(DB00141) GGTGTGGGGCACTGGGACCGA 0.711 NaN 0 0 0 0.014323 0 21 33 NOL6 65083 broad.mit.edu 37 9 33468850 33468850 + Silent SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:33468850C>A uc003zsz.2 - 8 1148 c.1047G>T c.(1045-1047)GGG>GGT p.G349G SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zta.2_Silent_p.G349G|NOL6_uc010mjv.2_Silent_p.G349G|NOL6_uc011lob.1_Silent_p.G289G|NOL6_uc003ztb.1_Silent_p.G349G NM_022917 NP_075068 Q9H6R4 NOL6_HUMAN nucleolar protein family 6 alpha isoform 349 rRNA processing condensed nuclear chromosome|nucleolus RNA binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) AGACAAGGAACCCAGTAAACC 0.572 NaN 1 0 1.1777e-47 0.01441 1.64227e-47 95 138 FLJ46321 389763 broad.mit.edu 37 9 84607839 84607839 + Silent SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:84607839G>T uc004amn.2 + 4 2501 c.2454G>T c.(2452-2454)GGG>GGT p.G818G NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 818 integral to membrane 0 ATGACTCAGGGGTGAGACTAG 0.458 NaN 1 0 1.47244e-24 0.00623 1.85729e-24 37 60 ZCCHC6 79670 broad.mit.edu 37 9 88961372 88961372 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:88961372G>T uc004aoq.2 - 3 759 c.544C>A c.(544-546)CCT>ACT p.P182T ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.P182T|ZCCHC6_uc004aou.2_Missense_Mutation_p.P182T|ZCCHC6_uc004aov.2_Missense_Mutation_p.P182T|ZCCHC6_uc004aow.2_Missense_Mutation_p.P182T NM_024617 NP_078893 Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 182 RNA 3'-end processing nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding ovary(2) 2 GGCTTCCTAGGTCTGGACCTC 0.428 NaN 1 0 7.50695e-29 0.01441 9.84955e-29 55 85 KIAA1529 57653 broad.mit.edu 37 9 100124558 100124558 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:100124558C>A uc011lut.1 + 40 5059 c.4286C>A c.(4285-4287)TCT>TAT p.S1429Y KIAA1529_uc004axe.1_Intron|KIAA1529_uc004axg.1_Missense_Mutation_p.S1290Y|KIAA1529_uc004axh.1_Intron|KIAA1529_uc011luw.1_Intron NM_020893 NP_065944 hypothetical protein LOC57653 ovary(4)|large_intestine(2)|skin(1) 7 Acute lymphoblastic leukemia(62;0.154) GCCTGTGGGTCTCGGGGCAGC 0.587 NaN 1 0 2.33925e-33 0.01441 3.12839e-33 91 100 GABBR2 9568 broad.mit.edu 37 9 101148053 101148053 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:101148053G>A uc004ays.2 - 11 1687 c.1531C>T c.(1531-1533)CTC>TTC p.L511F NM_005458 NP_005449 O75899 GABR2_HUMAN G protein-coupled receptor 51 precursor 511 Cytoplasmic (Potential). negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(2)|skin(2) 4 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) ATCTTTATGAGCCTGACAAGA 0.378 NaN 0 0 0 0.010818 0 29 45 ACTL7B 10880 broad.mit.edu 37 9 111618174 111618174 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:111618174C>A uc004bdi.2 - 1 102 c.37G>T c.(37-39)GCT>TCT p.A13S NM_006686 NP_006677 Q9Y614 ACL7B_HUMAN actin-like 7B 13 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton pancreas(1) 1 TCACCCTGAGCCGTGCCCAGG 0.652 NaN 1 0 3.09899e-07 0.004482 3.24516e-07 7 94 ACTL7A 10881 broad.mit.edu 37 9 111624682 111624682 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:111624682C>T uc004bdj.1 + 1 80 c.80C>T c.(79-81)GCC>GTC p.A27V NM_006687 NP_006678 Q9Y615 ACL7A_HUMAN actin-like 7A 27 cytoplasm|cytoskeleton|protein complex structural constituent of cytoskeleton 0 CAGACACAGGCCCTCCAGACT 0.617 NaN 0 0 0 0.01441 0 50 63 KIAA0368 23392 broad.mit.edu 37 9 114204677 114204677 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:114204677C>A uc004bfe.1 - 6 832 c.832G>T c.(832-834)GGC>TGC p.G278C KIAA0368_uc010muc.1_Missense_Mutation_p.G100C NM_001080398 NP_001073867 KIAA0368 protein 0 CGAGGATAGCCCATTTTAACA 0.378 NaN 1 0 0.00198382 0.001984 0.00200185 7 14 RNF183 138065 broad.mit.edu 37 9 116060181 116060181 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:116060181C>A uc004bgz.2 - 2 402 c.284G>T c.(283-285)GGC>GTC p.G95V RNF183_uc004bha.2_Missense_Mutation_p.G95V NM_145051 NP_659488 Q96D59 RN183_HUMAN ring finger protein 183 95 integral to membrane zinc ion binding 0 CAGCTGATGGCCTTCCAGGAT 0.657 NaN 1 0 3.19069e-20 0.01441 3.8749e-20 52 40 PTGES2 80142 broad.mit.edu 37 9 130886051 130886051 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:130886051C>T uc004bti.2 - 4 1094 c.616G>A c.(616-618)GGC>AGC p.G206S PTGES2_uc004btj.2_RNA|PTGES2_uc004btk.2_Missense_Mutation_p.G15S|PTGES2_uc004btl.2_Missense_Mutation_p.G15S|PTGES2_uc004btm.2_RNA NM_025072 NP_079348 Q9H7Z7 PGES2_HUMAN prostaglandin E synthase 2 206 Cytoplasmic (Potential). cell redox homeostasis|prostaglandin biosynthetic process Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity 0 TACTTATTGCCGAACTCGGTC 0.592 NaN 0 0 0 0.01441 0 45 50 ZER1 10444 broad.mit.edu 37 9 131516169 131516169 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:131516169G>C uc004bwa.1 - 3 661 c.228C>G c.(226-228)GAC>GAG p.D76E NM_006336 NP_006327 Q7Z7L7 ZER1_HUMAN zyg-11 homolog B (C. elegans)-like 76 ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity ovary(1) 1 TGCTGCGGGGGTCCGAAAAGA 0.627 NaN 0 0 0 0.014758 0 5 10 GTF3C4 9329 broad.mit.edu 37 9 135553561 135553561 + Silent SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:135553561G>C uc010mzv.2 + 2 813 c.555G>C c.(553-555)CTG>CTC p.L185L GTF3C4_uc010mzw.2_RNA NM_012204 NP_036336 Q9UKN8 TF3C4_HUMAN general transcription factor IIIC 4 185 transcription initiation from RNA polymerase III promoter transcription factor TFIIIC complex DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) TGGCAGCACTGACCATGGACA 0.527 NaN 0 0 0 0.01441 0 56 51 ADAMTS13 11093 broad.mit.edu 37 9 136323081 136323081 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:136323081G>A uc004cdv.3 + 28 4386 c.3942G>A c.(3940-3942)TCG>TCA p.S1314S ADAMTS13_uc004cdp.3_Intron|ADAMTS13_uc004cdt.1_Silent_p.S1258S|ADAMTS13_uc004cdu.1_Silent_p.S1227S|ADAMTS13_uc004cdw.3_Silent_p.S1258S|ADAMTS13_uc004cdx.3_Silent_p.S1227S|ADAMTS13_uc004cdz.3_Silent_p.S984S|ADAMTS13_uc004cea.1_3'UTR|ADAMTS13_uc004ceb.3_Silent_p.S110S|C9orf7_uc011mdg.1_5'Flank|C9orf7_uc004cec.2_5'Flank|C9orf7_uc011mdh.1_5'Flank|C9orf7_uc011mdi.1_5'Flank|C9orf7_uc010nan.2_5'Flank NM_139025 NP_620594 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 1314 CUB 2. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|skin(2)|ovary(1)|kidney(1) 6 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) TGAGCCCCTCGCTGAGTCCAG 0.607 NaN 0 0 0 0.01441 0 61 54 COL5A1 1289 broad.mit.edu 37 9 137701072 137701072 + Missense_Mutation SNP A A T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:137701072A>T uc004cfe.2 + 43 3792 c.3410A>T c.(3409-3411)CAG>CTG p.Q1137L NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 1137 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GACGGTCTCCAGGGGCCTGTG 0.627 NaN 0 0 0 0.016723 0 14 11 CAMSAP1 157922 broad.mit.edu 37 9 138719397 138719397 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:138719397G>C uc004cgr.3 - 8 1079 c.1079C>G c.(1078-1080)CCT>CGT p.P360R CAMSAP1_uc004cgq.3_Missense_Mutation_p.P250R|CAMSAP1_uc010nbg.2_Missense_Mutation_p.P82R NM_015447 NP_056262 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 360 cytoplasm|microtubule ovary(1)|central_nervous_system(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) CGGTACAGGAGGCCGGCTGCT 0.562 NaN 0 0 0 0.008871 0 19 32 NOTCH1 4851 broad.mit.edu 37 9 139418227 139418227 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:139418227G>A uc004chz.2 - 3 345 c.345C>T c.(343-345)GGC>GGT p.G115G NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 115 Extracellular (Potential).|EGF-like 3. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GGTCGCAGGTGCCCCCGTTGC 0.687 NaN T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 0 0 0 0.014323 0 19 15 MAMDC4 158056 broad.mit.edu 37 9 139751262 139751262 + Missense_Mutation SNP C C A rs142680518 TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:139751262C>A uc004cjs.2 + 15 1871 c.1821C>A c.(1819-1821)GAC>GAA p.D607E MAMDC4_uc011mej.1_5'UTR NM_206920 NP_996803 Q6UXC1 AEGP_HUMAN apical early endosomal glycoprotein precursor 686 MAM 4.|Extracellular (Potential). protein transport integral to membrane breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1) 7 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) CTGACCACGACCACACCACAG 0.647 NaN 1 0 4.36969e-10 0.016723 4.74595e-10 12 16 ENTPD8 377841 broad.mit.edu 37 9 140330634 140330634 + Missense_Mutation SNP T T G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:140330634T>G uc004cmw.2 - 7 1065 c.881A>C c.(880-882)CAC>CCC p.H294P C9orf167_uc011mew.1_Intron|ENTPD8_uc004cmx.2_Missense_Mutation_p.H294P NM_001033113 NP_001028285 Q5MY95 ENTP8_HUMAN ectonucleoside triphosphate diphosphohydrolase 8 294 Extracellular (Potential). integral to membrane|plasma membrane ATP binding skin(1) 1 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898) GGGCGTGGCGTGGACACAGGG 0.657 NaN 0 0 0 0.015359 0 35 49 TLR8 51311 broad.mit.edu 37 X 12939700 12939700 + Silent SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chrX:12939700G>C uc004cve.2 + 2 2609 c.2541G>C c.(2539-2541)CTG>CTC p.L847L TLR8_uc004cvd.2_Silent_p.L865L NM_138636 NP_619542 Q9NR97 TLR8_HUMAN toll-like receptor 8 precursor 847 Helical; (Potential). cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity ovary(4)|lung(2)|large_intestine(1) 7 TGGCTGCCCTGGCTCACCATT 0.393 NaN 0 0 0 0.01441 0 67 9 CDKL5 6792 broad.mit.edu 37 X 18622501 18622501 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chrX:18622501C>A uc004cym.2 + 12 1710 c.1457C>A c.(1456-1458)GCC>GAC p.A486D CDKL5_uc004cyn.2_Missense_Mutation_p.A486D NM_003159 NP_003150 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 486 neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1) 6 Hepatocellular(33;0.183) AGGACCAAGGCCAAAAGCCAT 0.532 NaN 1 0 3.8688e-20 0.01441 4.68818e-20 65 11 CDKL5 6792 broad.mit.edu 37 X 18622521 18622521 + Missense_Mutation SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chrX:18622521A>G uc004cym.2 + 12 1730 c.1477A>G c.(1477-1479)AGT>GGT p.S493G CDKL5_uc004cyn.2_Missense_Mutation_p.S493G NM_003159 NP_003150 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 493 neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1) 6 Hepatocellular(33;0.183) TGGGGCACTGAGTGACTCCAA 0.517 NaN 0 0 0 0.01441 0 60 11 MAGEB18 286514 broad.mit.edu 37 X 26157994 26157994 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chrX:26157994G>T uc004dbq.1 + 2 1079 c.892G>T c.(892-894)GCC>TCC p.A298S NM_173699 NP_775970 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 298 MAGE. protein binding central_nervous_system(1) 1 CGTCCCTAGTGCCTTCCCATC 0.522 NaN 1 0 5.16669e-11 0.010729 5.67824e-11 12 1 ZXDA 7789 broad.mit.edu 37 X 57936038 57936038 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chrX:57936038G>A uc004dve.2 - 1 1030 c.817C>T c.(817-819)CTG>TTG p.L273L NM_007156 NP_009087 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 273 C2H2-type 1.|Required for interaction with ZXDC. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 TGCCCGCACAGCGCCTCGGGG 0.711 NaN 0 0 0 0.006214 0 7 2 OTUD6A 139562 broad.mit.edu 37 X 69282757 69282757 + Missense_Mutation SNP A A T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chrX:69282757A>T uc004dxu.1 + 1 417 c.383A>T c.(382-384)GAG>GTG p.E128V NM_207320 NP_997203 Q7L8S5 OTU6A_HUMAN OTU domain containing 6A 128 lung(1)|skin(1) 2 AAGCGCGAGGAGGAGGAGAAG 0.627 NaN 0 0 0 0.001168 0 6 1 ATP7A 538 broad.mit.edu 37 X 77271359 77271359 + Silent SNP A A G rs61053012 byFrequency TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chrX:77271359A>G uc004ecx.3 + 12 2767 c.2607A>G c.(2605-2607)GTA>GTG p.V869V NM_000052 NP_000043 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 869 Cytoplasmic (Potential). ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity 0 ATTCTATGGTAGATGAGTCCC 0.378 NaN 0 0 0 0.01441 0 60 1 PLXNB3 5365 broad.mit.edu 37 X 153037013 153037013 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chrX:153037013G>A uc004fii.2 + 14 2594 c.2420G>A c.(2419-2421)TGC>TAC p.C807Y PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.1_Missense_Mutation_p.C489Y|PLXNB3_uc010nuk.2_Missense_Mutation_p.C830Y|PLXNB3_uc011mzd.1_Missense_Mutation_p.C446Y|PLXNB3_uc004fij.1_5'Flank NM_005393 NP_005384 Q9ULL4 PLXB3_HUMAN plexin B3 isoform 1 807 Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity lung(1) 1 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) AGCCTGGGCTGCCTGTGGTGT 0.672 NaN 0 0 0 0.008361 0 29 0 FAM43B 163933 broad.mit.edu 37 1 20880268 20880270 + In_Frame_Del DEL GAG GAG - TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:20880268_20880270delGAG uc001bdj.2 + 1 1337_1339 c.802_804delGAG c.(802-804)GAGdel p.E272del NM_207334 NP_997217 Q6ZT52 FA43B_HUMAN family with sequence similarity 43, member B 272 0 Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195) ggaggaggacgaggaggaggagg 0.567 NaN NaN NaN NaN NaN NaN 2 4 --- --- HFE2 148738 broad.mit.edu 37 1 145415369 145415371 + In_Frame_Del DEL GAG GAG - TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:145415369_145415371delGAG uc001eni.2 + 3 513_515 c.188_190delGAG c.(187-192)CGAGGA>CGA p.G69del NBPF10_uc001emp.3_Intron|HFE2_uc001enj.2_Intron|HFE2_uc001enk.2_5'UTR|HFE2_uc001enl.2_Intron NM_213653 NP_998818 Q6ZVN8 RGMC_HUMAN hemojuvelin isoform a precursor 69 Poly-Gly. G -> GG (in Ref. 3; ABC40718). axon guidance anchored to membrane ovary(1) 1 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGAGCACTTCGAGGAGGAGGAGG 0.626 NaN NaN NaN NaN NaN NaN 7 161 --- --- EPS8L2 64787 broad.mit.edu 37 11 722404 722404 + Frame_Shift_Del DEL G G - TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:722404delG uc001lqt.2 + 13 1310 c.1063delG c.(1063-1065)GTCfs p.V355fs EPS8L2_uc001lqu.2_Frame_Shift_Del_p.V355fs|EPS8L2_uc010qwk.1_Frame_Shift_Del_p.V371fs|EPS8L2_uc001lqv.2_Frame_Shift_Del_p.V310fs|EPS8L2_uc001lqw.2_5'UTR|EPS8L2_uc001lqx.2_5'UTR|EPS8L2_uc001lqy.2_5'Flank NM_022772 NP_073609 Q9H6S3 ES8L2_HUMAN epidermal growth factor receptor pathway 355 cytoplasm pancreas(1) 1 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCCCCAGATCGTCAACACCTG 0.657 NaN NaN NaN NaN NaN NaN 47 6 --- --- C14orf73 91828 broad.mit.edu 37 14 103566640 103566640 + Frame_Shift_Del DEL C C - TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr14:103566640delC uc001ymk.2 + 1 160 c.84delC c.(82-84)GGCfs p.G28fs NM_001077594 NP_001071062 Q17RC7 EX3L4_HUMAN hypothetical protein LOC91828 28 0 Melanoma(154;0.155) Epithelial(46;0.221) CAGCTCAGGGCTCCCGGCGAA 0.657 NaN NaN NaN NaN NaN NaN 7 15 --- --- PKD1L2 114780 broad.mit.edu 37 16 81232364 81232364 + Frame_Shift_Del DEL C C - TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:81232364delC uc002fgh.1 - 7 1446 c.1446delG c.(1444-1446)CTGfs p.L482fs PKD1L2_uc002fgj.2_Frame_Shift_Del_p.L482fs NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 482 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 CCTCAAAGGTCAGCTCTTCCG 0.562 NaN NaN NaN NaN NaN NaN 65 61 --- --- QTRT1 81890 broad.mit.edu 37 19 10822952 10822953 + Frame_Shift_Ins INS - - C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:10822952_10822953insC uc002mpr.2 + 6 787_788 c.762_763insC c.(760-765)AAGCCCfs p.K254fs DNM2_uc010dxk.2_5'Flank NM_031209 NP_112486 Q9BXR0 TGT_HUMAN queuine tRNA-ribosyltransferase 1 254_255 queuosine biosynthetic process mitochondrion|nucleus|ribosome metal ion binding|queuine tRNA-ribosyltransferase activity skin(1) 1 Epithelial(33;1.55e-05)|all cancers(31;3.42e-05) CGAAGGACAAGCCCCGATATCT 0.639 NaN NaN NaN NaN NaN NaN 39 318 --- --- CILP2 148113 broad.mit.edu 37 19 19650559 19650559 + Frame_Shift_Del DEL C C - TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:19650559delC uc002nmv.3 + 2 221 c.136delC c.(136-138)CCCfs p.P46fs CILP2_uc002nmw.3_Frame_Shift_Del_p.P46fs NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 46 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity ovary(1) 1 CACCGGCCAGCCCTCACCAGC 0.667 NaN NaN NaN NaN NaN NaN 72 104 --- --- TPRX1 284355 broad.mit.edu 37 19 48305975 48305975 + Frame_Shift_Del DEL G G - TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:48305975delG uc002php.1 - 2 364 c.293delC c.(292-294)CCGfs p.P98fs NM_198479 NP_940881 Q8N7U7 TPRX1_HUMAN tetra-peptide repeat homeobox 98 Gly-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048) ggcagggATCGGGCCAGGGCC 0.368 NaN NaN NaN NaN NaN NaN 4 4 --- --- PPFIA3 8541 broad.mit.edu 37 19 49649253 49649253 + Frame_Shift_Del DEL G G - TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:49649253delG uc002pmr.2 + 22 3131 c.2799delG c.(2797-2799)ACGfs p.T933fs PPFIA3_uc010yai.1_RNA|PPFIA3_uc002pms.2_Frame_Shift_Del_p.T801fs|PPFIA3_uc002pmt.2_Frame_Shift_Del_p.T81fs|PPFIA3_uc002pmu.1_5'Flank NM_003660 NP_003651 O75145 LIPA3_HUMAN PTPRF interacting protein alpha 3 933 cell surface|cytoplasm protein binding lung(1) 1 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) TTACGGCCACGACCAAGCCCG 0.642 NaN OREG0025618 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NaN NaN NaN NaN NaN 50 54 --- --- SIGLEC8 27181 broad.mit.edu 37 19 51961617 51961619 + In_Frame_Del DEL GCA GCA - TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:51961617_51961619delGCA uc002pwt.2 - 1 90_92 c.23_25delTGC c.(22-27)CTGCCC>CCC p.L8del SIGLEC8_uc010yda.1_In_Frame_Del_p.L8del|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_In_Frame_Del_p.L8del NM_014442 NP_055257 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 precursor 8 cell adhesion integral to membrane sugar binding|transmembrane receptor activity ovary(2)|kidney(1)|central_nervous_system(1)|skin(1) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CAGagcaggggcagcagcagcag 0.493 NaN NaN NaN NaN NaN NaN 7 100 --- --- TRIB3 57761 broad.mit.edu 37 20 377174 377174 + Frame_Shift_Del DEL C C - TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr20:377174delC uc002wdm.2 + 4 1423 c.917delC c.(916-918)GCCfs p.A306fs TRIB3_uc002wdn.2_Frame_Shift_Del_p.A333fs NM_021158 NP_066981 Q96RU7 TRIB3_HUMAN tribbles 3 306 Protein kinase. apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent cytosol|nucleus|plasma membrane ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity central_nervous_system(2) 2 all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231) Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112) CGGCTCACAGCCACAGGCATC 0.687 NaN NaN NaN NaN NaN NaN 45 197 --- --- SPTLC3 55304 broad.mit.edu 37 20 13134777 13134777 + Frame_Shift_Del DEL T T - TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr20:13134777delT uc002wod.1 + 10 1696 c.1407delT c.(1405-1407)GGTfs p.G469fs NM_018327 NP_060797 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base 469 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups 0 Pyridoxal Phosphate(DB00114) ATATGCCTGGTAAAGTAGCGT 0.408 NaN NaN NaN NaN NaN NaN 32 87 --- --- ZNFX1 57169 broad.mit.edu 37 20 47864087 47864088 + In_Frame_Ins INS - - GGC TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr20:47864087_47864088insGGC uc002xui.2 - 14 5720_5721 c.5473_5474insGCC c.(5473-5475)CTG>CGCCTG p.1824_1825insR NM_021035 NP_066363 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 1824_1825 metal ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TGAGATGCCCAGGCCAGAGCAG 0.495 NaN NaN NaN NaN NaN NaN 42 147 --- --- PPARG 5468 broad.mit.edu 37 3 12422901 12422902 + Frame_Shift_Ins INS - - C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:12422901_12422902insC uc003bwx.2 + 3 482_483 c.391_392insC c.(391-393)TCCfs p.S131fs PPARG_uc003bwr.2_Frame_Shift_Ins_p.S103fs|PPARG_uc003bws.2_Frame_Shift_Ins_p.S103fs|PPARG_uc003bwu.2_Frame_Shift_Ins_p.S103fs|PPARG_uc003bwv.2_Frame_Shift_Ins_p.S103fs|PPARG_uc010hea.1_RNA|PPARG_uc003bwq.1_Frame_Shift_Ins_p.S103fs|PPARG_uc003bwt.1_Frame_Shift_Ins_p.S103fs|PPARG_uc003bww.1_Frame_Shift_Ins_p.S131fs NM_015869 NP_056953 P37231 PPARG_HUMAN peroxisome proliferative activated receptor 131 activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|kidney(1) 2 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) TGAAGAGCCTTCCAACTCCCTC 0.426 NaN T PAX8 follicular thyroid Insulin resistance ; lipodystrophy|familial partial L;diabetes mellitus|insulin-resistantI|with acanthosis nigricans and hypertension NaN NaN NaN NaN NaN 15 72 --- --- NOP14 8602 broad.mit.edu 37 4 2941321 2941327 + Frame_Shift_Del DEL GGCAGAG GGCAGAG - rs138901812 by1000genomes TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:2941321_2941327delGGCAGAG uc003ggj.1 - 16 2317_2323 c.2245_2251delCTCTGCC c.(2245-2253)CTCTGCCGGfs p.L749fs C4orf10_uc003ggd.1_Intron|C4orf10_uc003gge.1_Intron|C4orf10_uc003ggg.1_Intron|C4orf10_uc003ggh.2_Intron|C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Intron|NOP14_uc003ggk.3_Frame_Shift_Del_p.L749fs|NOP14_uc003ggl.2_Frame_Shift_Del_p.L749fs NM_003703 NP_003694 P78316 NOP14_HUMAN probable nucleolar complex protein 14 749_751 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) mitochondrion|Noc4p-Nop14p complex|small-subunit processome snoRNA binding pancreas(1) 1 GTCAGCGGCCGGCAGAGCTGCTTCTGG 0.589 NaN NaN NaN NaN NaN NaN 17 49 --- --- HIST1H2BB 3018 broad.mit.edu 37 6 26043564 26043564 + Frame_Shift_Del DEL C C - TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr6:26043564delC uc003nfu.2 - 1 322 c.322delG c.(322-324)GCTfs p.A108fs HIST1H3C_uc003nfv.2_5'Flank NM_021062 NP_066406 P33778 H2B1B_HUMAN histone cluster 1, H2bb 108 nucleosome assembly nucleosome|nucleus DNA binding 0 GCATGCTTAGCCAGCTCCCCA 0.552 NaN NaN NaN NaN NaN NaN 49 53 --- --- RGL2 5863 broad.mit.edu 37 6 33262770 33262771 + Frame_Shift_Ins INS - - A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr6:33262770_33262771insA uc003odv.2 - 10 1394_1395 c.1261_1262insT c.(1261-1263)TCTfs p.S421fs RGL2_uc003odu.2_5'UTR|RGL2_uc010jur.2_5'UTR|RGL2_uc003odw.2_Frame_Shift_Ins_p.S339fs|RGL2_uc011drb.1_Frame_Shift_Ins_p.S339fs NM_004761 NP_004752 O15211 RGL2_HUMAN ral guanine nucleotide dissociation 421 Ras-GEF. Ras protein signal transduction|regulation of small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity skin(3)|lung(1)|breast(1)|pancreas(1) 6 CCGGGAGCCAGACCTCGGGGCC 0.589 NaN NaN NaN NaN NaN NaN 8 5 --- --- ADCY1 107 broad.mit.edu 37 7 45725689 45725689 + Frame_Shift_Del DEL C C - TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:45725689delC uc003tne.3 + 13 2220 c.2202delC c.(2200-2202)TGCfs p.C734fs NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 734 Helical; (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|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) TGCTCTGCTGCCTGGTGGGCA 0.622 NaN NaN NaN NaN NaN NaN 37 56 --- --- PCMTD1 115294 broad.mit.edu 37 8 52733063 52733063 + Frame_Shift_Del DEL T T - TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr8:52733063delT uc003xqx.3 - 6 1263 c.922delA c.(922-924)ATGfs p.M308fs PCMTD1_uc011ldm.1_Frame_Shift_Del_p.M178fs|PCMTD1_uc003xqw.3_Frame_Shift_Del_p.M308fs|PCMTD1_uc011ldn.1_Frame_Shift_Del_p.M120fs|PCMTD1_uc010lya.2_Frame_Shift_Del_p.M232fs NM_052937 NP_443169 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) 308 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity 0 Lung NSC(129;0.0795)|all_lung(136;0.144) tcctcttccattttttcatcc 0.284 NaN NaN NaN NaN NaN NaN 8 132 --- --- KDM6A 7403 broad.mit.edu 37 X 44918557 44918558 + Frame_Shift_Ins INS - - G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 - G - - Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chrX:44918557_44918558insG uc004dge.3 + 12 1415_1416 c.1040_1041insG c.(1039-1041)TTGfs p.L347fs KDM6A_uc010nhk.2_Frame_Shift_Ins_p.L347fs|KDM6A_uc011mkz.1_Frame_Shift_Ins_p.L347fs|KDM6A_uc011mla.1_Frame_Shift_Ins_p.L347fs|KDM6A_uc011mlb.1_Frame_Shift_Ins_p.L347fs|KDM6A_uc011mlc.1_Frame_Shift_Ins_p.L96fs|KDM6A_uc011mld.1_Frame_Shift_Ins_p.L13fs NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 347 TPR 7. histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 GCTGTACAATTGGACCATGGCC 0.431 NaN D|N|F|S renal|oesophageal SCC|MM NaN NaN NaN NaN NaN 39 9 --- --- STAG2 10735 broad.mit.edu 37 X 123184129 123184130 + Frame_Shift_Del DEL AA AA - TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 AA - AA AA Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chrX:123184129_123184130delAA uc004etz.3 + 10 1326_1327 c.987_988delAA c.(985-990)TTAAAAfs p.L329fs STAG2_uc004eua.2_Frame_Shift_Del_p.L329fs|STAG2_uc004eub.2_Frame_Shift_Del_p.L329fs|STAG2_uc004euc.2_Frame_Shift_Del_p.L329fs|STAG2_uc004eud.2_Frame_Shift_Del_p.L329fs|STAG2_uc004eue.2_Frame_Shift_Del_p.L329fs NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 329_330 SCD. cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 ACAGTTATTTAAAATATGTTGG 0.401 NaN NaN NaN NaN NaN NaN 141 18 --- ---