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 ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut AGRN 375790 broad.mit.edu 37 1 978663 978663 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:978663G>C uc001ack.1 + 8 1479 c.1429G>C c.(1429-1431)GCG>CCG p.A477P NM_198576 NP_940978 O00468 AGRIN_HUMAN agrin precursor 477 axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton central_nervous_system(2)|breast(1) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) TGCATTTGGGGCGACGTGTGC 0.662 NA 4 14 0 0 0.009096 0 0 SCNN1D 6339 broad.mit.edu 37 1 1221509 1221509 + Silent SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:1221509G>T uc001adu.1 + 6 894 c.270G>T c.(268-270)CTG>CTT p.L90L SCNN1D_uc001adt.1_Silent_p.L254L|SCNN1D_uc001adw.2_Silent_p.L156L|SCNN1D_uc001adx.2_5'UTR|SCNN1D_uc001adv.2_Silent_p.L90L NM_002978 NP_002969 sodium channel, nonvoltage-gated 1, delta 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;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) CCTGGGGGCTGCTGTCCCTGG 0.682 NA 7 12 0.00198382 0.00205467 0.001984 1 0 MXRA8 54587 broad.mit.edu 37 1 1290159 1290159 + Silent SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:1290159G>C uc001aew.2 - 5 883 c.852C>G c.(850-852)CGC>CGG p.R284R MXRA8_uc001aex.3_Silent_p.R284R|MXRA8_uc001aey.3_Silent_p.R284R|MXRA8_uc010nyl.1_Silent_p.R284R|MXRA8_uc001aez.2_Silent_p.R183R|MXRA8_uc001afa.2_Silent_p.R275R NM_032348 NP_115724 Q9BRK3 MXRA8_HUMAN matrix-remodelling associated 8 precursor 284 Ig-like V-type 2.|Extracellular (Potential). integral to membrane 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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GGAAGACGCGGCGTTCGTGCA 0.711 NA 4 24 0 0 0.009096 0 0 PLCH2 9651 broad.mit.edu 37 1 2436043 2436043 + Silent SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:2436043C>A uc001aji.1 + 22 3916 c.3642C>A c.(3640-3642)CCC>CCA p.P1214P PLCH2_uc010nyz.1_3'UTR|PLCH2_uc009vle.1_Silent_p.P966P|PLCH2_uc001ajj.1_3'UTR|PLCH2_uc001ajk.1_3'UTR|PLCH2_uc001ajl.1_Silent_p.P66P NM_014638 NP_055453 O75038 PLCH2_HUMAN phospholipase C, eta 2 1214 intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(3)|ovary(1)|skin(1) 5 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) AGCGGCCTCCCATACCTGACG 0.687 NA 22 46 7.41877e-09 8.2472e-09 0.012319 1 0 KIF1B 23095 broad.mit.edu 37 1 10327466 10327466 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:10327466G>C uc001aqx.3 + 6 660 c.458G>C c.(457-459)AGA>ACA p.R153T KIF1B_uc001aqv.3_Missense_Mutation_p.R153T|KIF1B_uc001aqw.3_Missense_Mutation_p.R153T|KIF1B_uc001aqy.2_Missense_Mutation_p.R153T|KIF1B_uc001aqz.2_Missense_Mutation_p.R153T|KIF1B_uc001ara.2_Missense_Mutation_p.R153T|KIF1B_uc001arb.2_Missense_Mutation_p.R153T|KIF1B_uc009vmt.2_RNA NM_015074 NP_055889 O60333 KIF1B_HUMAN kinesin family member 1B isoform b 153 Kinesin-motor. anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) TACTGTGAAAGAGTACGAGAT 0.353 NA 4 50 0 0 0.001168 0 0 RSC1A1 6248 broad.mit.edu 37 1 15987288 15987288 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:15987288G>C uc010obn.1 + 1 925 c.925G>C c.(925-927)GAT>CAT p.D309H NM_006511 NP_006502 Q92681 RSCA1_HUMAN regulatory solute carrier protein, family 1, 309 negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport cell junction|Golgi apparatus|nucleus ion channel inhibitor activity ovary(1) 1 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TTCCACTCAGGATTTACAGCC 0.393 NA 12 51 0 0 0.010729 0 0 NBPF1 55672 broad.mit.edu 37 1 16895712 16895712 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:16895712C>G uc009vos.1 - 23 3358 c.2470G>C c.(2470-2472)GAG>CAG p.E824Q NBPF1_uc009vot.1_Missense_Mutation_p.E282Q|NBPF1_uc001ayz.1_Missense_Mutation_p.E282Q|NBPF1_uc010oce.1_Missense_Mutation_p.E553Q NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN hypothetical protein LOC55672 824 NBPF 4.|Poly-Glu. cytoplasm 0 UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) ACTTCCTCCTCTTCAGACTCC 0.478 NA 8 195 0 0 0.001855 0 0 MST1P9 11223 broad.mit.edu 37 1 17087593 17087593 + Silent SNP C C T rs12145944 by1000genomes TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:17087593C>T uc010ock.1 - 2 72 c.72G>A c.(70-72)CAG>CAA p.Q24Q CROCC_uc009voy.1_Intron|MST1P9_uc001azp.3_5'Flank NR_002729 SubName: Full=Hepatocyte growth factor-like protein homolog; 0 ATGGCGAGCGCTGCCCTGCAG 0.577 NA 3 28 0 0 0.004672 0 0 HSPG2 3339 broad.mit.edu 37 1 22205522 22205522 + Silent SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:22205522C>A uc001bfj.2 - 18 2476 c.2436G>T c.(2434-2436)CGG>CGT p.R812R HSPG2_uc009vqd.2_Silent_p.R813R NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 812 Laminin EGF-like 2. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) AAGGGCAGGGCCGGCAGGAAG 0.552 NA 14 13 6.72482e-11 7.64132e-11 0.003163 1 0 CNKSR1 10256 broad.mit.edu 37 1 26514740 26514740 + Silent SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:26514740C>G uc001bln.3 + 17 1549 c.1491C>G c.(1489-1491)CTC>CTG p.L497L CNKSR1_uc001blm.3_Silent_p.L490L|CNKSR1_uc009vsd.2_Silent_p.L232L|CNKSR1_uc009vse.2_Silent_p.L232L|CNKSR1_uc001blo.2_Silent_p.L232L|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.1_5'Flank|CATSPER4_uc009vsf.2_5'Flank NM_006314 NP_006305 Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 497 PH. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging lung(1)|kidney(1) 2 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) TGCGTCATCTCATTACCTGCA 0.418 NSCLC(180;1396 2109 28270 30756 34275) NA 6 46 0 0 0.001984 0 0 FGR 2268 broad.mit.edu 37 1 27942117 27942117 + Nonsense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:27942117C>T uc001boj.2 - 7 992 c.846G>A c.(844-846)TGG>TGA p.W282* FGR_uc001boi.2_5'UTR|FGR_uc001bok.2_Nonsense_Mutation_p.W282*|FGR_uc001bol.2_Nonsense_Mutation_p.W282*|FGR_uc001bom.2_Nonsense_Mutation_p.W282* NM_005248 NP_005239 P09769 FGR_HUMAN proto-oncogene tyrosine-protein kinase FGR 282 Protein kinase. platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity skin(2) 2 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) TGCTGCCGTTCCACGTGCCTG 0.687 NA 5 21 0 0 0.001168 0 0 PTPRU 10076 broad.mit.edu 37 1 29639188 29639188 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:29639188C>G uc001bru.2 + 23 3337 c.3227C>G c.(3226-3228)CCT>CGT p.P1076R PTPRU_uc001brv.2_Missense_Mutation_p.P1072R|PTPRU_uc001brw.2_Missense_Mutation_p.P1066R|PTPRU_uc009vtq.2_Missense_Mutation_p.P1072R|PTPRU_uc009vtr.2_Missense_Mutation_p.P1063R NM_005704 NP_005695 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 1076 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) TCCACCCCACCTGATGCCGGG 0.642 NA 3 28 0 0 0.004672 0 0 C1orf113 79729 broad.mit.edu 37 1 36785389 36785389 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:36785389G>A uc010oia.1 + 14 1153 c.1125G>A c.(1123-1125)AAG>AAA p.K375K C1orf113_uc010oib.1_Silent_p.K264K|C1orf113_uc010oic.1_RNA|C1orf113_uc009vuz.1_Silent_p.K21K NM_001162530 NP_001156002 A4FU49 SH321_HUMAN SH3 domain-containing protein C1orf113 isoform 259 0 Myeloproliferative disorder(586;0.0393) CCAGCTCCAAGAAGATCCCGG 0.632 NA 7 32 0 0 0.001984 0 0 RIMKLA 284716 broad.mit.edu 37 1 42880471 42880471 + Silent SNP A A G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:42880471A>G uc001chi.2 + 5 1140 c.1002A>G c.(1000-1002)GGA>GGG p.G334G NM_173642 NP_775913 Q8IXN7 RIMKA_HUMAN ribosomal modification protein rimK-like family 334 protein modification process cytoplasm acid-amino acid ligase activity|ATP binding|metal ion binding 0 CAGCTCAGGGAGTTGCAGAGA 0.552 NA 12 41 0 0 0.001855 0 0 KIAA0467 23334 broad.mit.edu 37 1 43906216 43906216 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:43906216C>G uc001cjk.1 + 37 5068 c.4606C>G c.(4606-4608)CCA>GCA p.P1536A NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 2435 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GCCTGTGACTCCACCCAGCAA 0.592 NA 21 66 0 0 0.010504 0 0 RAD54L 8438 broad.mit.edu 37 1 46736385 46736385 + Missense_Mutation SNP A A T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:46736385A>T uc009vye.2 + 11 1211 c.1097A>T c.(1096-1098)GAC>GTC p.D366V RAD54L_uc001cpl.2_Missense_Mutation_p.D366V|RAD54L_uc001cpm.1_Missense_Mutation_p.D186V NM_001142548 NP_001136020 Q92698 RAD54_HUMAN RAD54-like protein 366 meiosis nucleus ATP binding|DNA binding|helicase activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(166;0.155) Breast(1374;0.0634) KIRC - Kidney renal clear cell carcinoma(1967;0.000896) AAGGGTCGAGACGCTGCTGCT 0.473 NA Direct_reversal_of_damage|Homologous_recombination 9 43 0 0 0.004482 0 0 OMA1 115209 broad.mit.edu 37 1 59004832 59004832 + Silent SNP A A G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:59004832A>G uc001cyy.2 - 2 223 c.135T>C c.(133-135)CAT>CAC p.H45H DAB1_uc001cyt.1_Intron|OMA1_uc001cyx.1_Silent_p.H45H|OMA1_uc009vzz.2_Silent_p.H45H NM_145243 NP_660286 Q96E52 OMA1_HUMAN OMA1 homolog, zinc metallopeptidase precursor 45 proteolysis integral to membrane|mitochondrial membrane metal ion binding|metalloendopeptidase activity large_intestine(1) 1 all_cancers(7;6.54e-05) TATTTACTATATGGTTAACTT 0.368 NA 40 72 0 0 0.01441 0 0 EFCAB7 84455 broad.mit.edu 37 1 64021097 64021097 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:64021097G>A uc001dbf.2 + 9 1419 c.1125G>A c.(1123-1125)AGG>AGA p.R375R NM_032437 NP_115813 A8K855 EFCB7_HUMAN EF-hand calcium binding domain 7 375 calcium ion binding 0 CTGGCTGTAGGCTGAGGAAAA 0.353 NA 24 70 0 0 0.003954 0 0 NEGR1 257194 broad.mit.edu 37 1 71873215 71873215 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:71873215C>T uc001dfw.2 - 7 1079 c.979G>A c.(979-981)GAT>AAT p.D327N NEGR1_uc001dfv.2_Missense_Mutation_p.D199N|NEGR1_uc010oqs.1_Missense_Mutation_p.D283N NM_173808 NP_776169 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 precursor 327 cell adhesion anchored to membrane|plasma membrane ovary(1) 1 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) AAAAGAACATCAGCGCTCCCG 0.403 NA 10 36 0 0 0.010729 0 0 C1orf173 127254 broad.mit.edu 37 1 75107038 75107038 + Nonsense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:75107038C>A uc001dgg.2 - 5 640 c.421G>T c.(421-423)GGA>TGA p.G141* NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 141 ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CTGGAATGTCCTTCATCAACC 0.423 NA 18 66 8.00594e-06 8.59897e-06 0.007413 1 0 IFI44 10561 broad.mit.edu 37 1 79115896 79115896 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:79115896C>T uc001dip.3 + 2 140 c.16C>T c.(16-18)CGT>TGT p.R6C IFI44_uc010orr.1_Missense_Mutation_p.R6C|IFI44_uc010ors.1_Intron NM_006417 NP_006408 Q8TCB0 IFI44_HUMAN interferon-induced, hepatitis C-associated 6 response to virus cytoplasm ovary(1)|central_nervous_system(1) 2 AGTGACAACTCGTTTGACATG 0.348 NA 17 51 0 0 0.00499 0 0 PRKACB 5567 broad.mit.edu 37 1 84700929 84700929 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:84700929G>C uc001djj.2 + 10 1261 c.997G>C c.(997-999)GAA>CAA p.E333Q PRKACB_uc001djl.2_Missense_Mutation_p.E380Q|PRKACB_uc010ort.1_Missense_Mutation_p.E340Q|PRKACB_uc001djn.2_Missense_Mutation_p.E337Q|PRKACB_uc010oru.1_Missense_Mutation_p.E321Q|PRKACB_uc001djp.2_Missense_Mutation_p.E339Q|PRKACB_uc001djq.2_Missense_Mutation_p.E303Q|PRKACB_uc010orv.1_Missense_Mutation_p.E320Q NM_002731 NP_002722 P22694 KAPCB_HUMAN cAMP-dependent protein kinase catalytic subunit 333 AGC-kinase C-terminal. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding lung(2)|ovary(1) 3 all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141) TGACTATGAAGAAGAAGATAT 0.368 NA 15 55 0 0 0.007413 0 0 AMY2A 279 broad.mit.edu 37 1 104160583 104160583 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:104160583C>A uc001dut.2 + 2 240 c.176C>A c.(175-177)CCA>CAA p.P59Q AMY2A_uc010ouq.1_Missense_Mutation_p.P59Q NM_000699 NP_000690 P04746 AMYP_HUMAN pancreatic amylase alpha 2A precursor 59 carbohydrate catabolic process|polysaccharide digestion extracellular space alpha-amylase activity|calcium ion binding|chloride ion binding ovary(1)|skin(1) 2 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111) Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085) TAGGTCTCTCCACCAAATGAA 0.328 NA 28 104 1.7881e-09 2.00785e-09 0.008361 1 0 CELSR2 1952 broad.mit.edu 37 1 109812675 109812675 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:109812675G>A uc001dxa.3 + 23 7289 c.7228G>A c.(7228-7230)GGC>AGC p.G2410S NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 2410 Cytoplasmic (Potential). dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CAACCAACACGGCATCCGACG 0.577 NSCLC(158;1285 2011 34800 34852 42084) NA 18 64 0 0 0.00499 0 0 AMPD2 271 broad.mit.edu 37 1 110168300 110168300 + Nonsense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:110168300C>A uc009wfh.1 + 4 943 c.401C>A c.(400-402)TCA>TAA p.S134* AMPD2_uc009wfg.1_RNA|AMPD2_uc001dyb.1_Nonsense_Mutation_p.S53*|AMPD2_uc001dyc.1_Nonsense_Mutation_p.S134*|AMPD2_uc010ovr.1_Nonsense_Mutation_p.S59*|AMPD2_uc010ovs.1_Nonsense_Mutation_p.S16*|AMPD2_uc001dyd.1_Nonsense_Mutation_p.S15* NM_004037 NP_004028 Q01433 AMPD2_HUMAN adenosine monophosphate deaminase 2 (isoform L) 134 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding ovary(2)|breast(1) 3 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228) TTCACCCGCTCACTGGCTGAG 0.667 NA 5 38 0.000602214 0.000629588 0.000602 1 0 PDE4DIP 9659 broad.mit.edu 37 1 144866706 144866706 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:144866706C>G uc001elw.3 - 34 5827 c.5536G>C c.(5536-5538)GAG>CAG p.E1846Q NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.E1740Q|PDE4DIP_uc001elv.3_Missense_Mutation_p.E853Q|PDE4DIP_uc001ema.2_Missense_Mutation_p.E33Q NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1846 Potential. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CCAAGATGCTCTTCCAGCAGG 0.597 NA T PDGFRB MPD 5 108 0 0 0.000602 0 0 SEC22B 9554 broad.mit.edu 37 1 145109656 145109656 + Silent SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:145109656G>T uc001eml.1 + 5 458 c.318G>T c.(316-318)GTG>GTT p.V106V NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron NM_004892 NP_004883 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B 106 Longin.|Cytoplasmic (Potential). ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding 0 TGCCCACTGTGTCCCGACCCT 0.418 NA 32 774 2.75727e-19 3.3137e-19 0.004878 1 0 PRUNE 58497 broad.mit.edu 37 1 151006440 151006440 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:151006440C>T uc001ewh.1 + 8 1228 c.1092C>T c.(1090-1092)GAC>GAT p.D364D PRUNE_uc001ewi.1_Silent_p.D182D|PRUNE_uc010pco.1_Silent_p.D132D|PRUNE_uc001ewj.1_Silent_p.D79D|PRUNE_uc001ewk.1_Silent_p.D129D|BNIPL_uc009wmi.2_5'Flank|BNIPL_uc001ewl.2_5'Flank NM_021222 NP_067045 Q86TP1 PRUNE_HUMAN prune 364 cytoplasm|focal adhesion|nucleus inorganic diphosphatase activity|manganese ion binding|protein binding ovary(1) 1 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CATATTTTGACTCCATGAAGA 0.527 NA 11 157 0 0 0.008291 0 0 PIP5K1A 8394 broad.mit.edu 37 1 151214946 151214946 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:151214946C>G uc001exj.2 + 14 1995 c.1543C>G c.(1543-1545)CAG>GAG p.Q515E PIP5K1A_uc001exi.2_Missense_Mutation_p.Q502E|PIP5K1A_uc010pcu.1_Missense_Mutation_p.Q475E|PIP5K1A_uc001exk.2_Missense_Mutation_p.Q453E|PIP5K1A_uc010pcv.1_Intron NM_001135638 NP_001129110 Q99755 PI51A_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 515 phospholipid biosynthetic process|signal transduction endomembrane system|Golgi stack|lamellipodium|nuclear speck 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding ovary(1)|central_nervous_system(1)|skin(1) 3 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181) TGTTTTACCTCAGACTCCACC 0.453 Pancreas(80;36 1443 2325 16095 21302) NA 10 132 0 0 0.006214 0 0 TCHH 7062 broad.mit.edu 37 1 152080014 152080014 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:152080014C>G uc001ezp.2 - 2 5679 c.5679G>C c.(5677-5679)CAG>CAC p.Q1893H TCHH_uc009wne.1_Missense_Mutation_p.Q1893H NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 1893 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGCGGTGCCTCTGTTCCTCCT 0.567 NA 7 170 0 0 0.00308 0 0 ILF2 3608 broad.mit.edu 37 1 153642698 153642698 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:153642698C>G uc001fcr.2 - 2 95 c.14G>C c.(13-15)AGA>ACA p.R5T ILF2_uc010pdy.1_5'UTR|ILF2_uc009wok.2_Missense_Mutation_p.R5T|ILF2_uc009wol.1_5'UTR NM_004515 NP_004506 Q12905 ILF2_HUMAN interleukin enhancer binding factor 2 5 immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|ribonucleoprotein complex ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity 0 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) ACCACGGCCTCTGTCACCCCT 0.512 NA 16 168 0 0 0.008871 0 0 GBA 2629 broad.mit.edu 37 1 155210461 155210461 + Silent SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:155210461G>C uc001fjh.2 - 2 225 c.75C>G c.(73-75)CTC>CTG p.L25L RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Silent_p.L25L|GBA_uc010pfx.1_Silent_p.L25L|GBA_uc001fji.2_Silent_p.L25L|GBA_uc001fjj.2_Silent_p.L25L|GBA_uc001fjk.2_Silent_p.L25L|GBA_uc001fjl.2_Silent_p.L25L|GBA_uc010pfy.1_Intron|GBA_uc009wqk.1_5'UTR NM_000157 NP_000148 P04062 GLCM_HUMAN glucocerebrosidase precursor 25 carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction lysosomal lumen|lysosomal membrane cation binding|glucosylceramidase activity|receptor binding ovary(1)|skin(1) 2 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) Alglucerase(DB00088)|Imiglucerase(DB00053) GCAATCCTGTGAGGCTGCCAG 0.542 NA Gaucher_disease_type_I 28 352 0 0 0.009535 0 0 SYT11 23208 broad.mit.edu 37 1 155851236 155851236 + Nonsense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:155851236G>A uc001fmg.2 + 4 1496 c.1233G>A c.(1231-1233)TGG>TGA p.W411* SYT11_uc010pgq.1_Nonsense_Mutation_p.W104* NM_152280 NP_689493 Q9BT88 SYT11_HUMAN synaptotagmin XI 411 Cytoplasmic (Potential). cell junction|synaptic vesicle membrane protein binding|transporter activity ovary(1)|skin(1) 2 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;0.000162) CTGAACACTGGAGAGAGGTCT 0.587 NA 8 192 0 0 0.00308 0 0 C1orf85 112770 broad.mit.edu 37 1 156264242 156264242 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:156264242C>G uc001foh.2 - 3 506 c.493G>C c.(493-495)GAT>CAT p.D165H C1orf85_uc001fof.3_5'Flank|C1orf85_uc001fog.1_Intron|C1orf85_uc001foi.2_Missense_Mutation_p.D165H|C1orf85_uc009wrx.2_Intron|C1orf85_uc001foj.2_Missense_Mutation_p.D79H NM_144580 NP_653181 Q8WWB7 NCUG1_HUMAN kidney predominant protein NCU-G1 precursor 165 Lumenal (Potential). positive regulation of transcription from RNA polymerase II promoter cytosol|integral to membrane|lysosomal membrane|nucleus ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(2) 2 Hepatocellular(266;0.158) GTGGCAGGATCCAATGAATCA 0.532 NA 11 96 0 0 0.010729 0 0 NES 10763 broad.mit.edu 37 1 156640601 156640601 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:156640601C>T uc001fpq.2 - 4 3512 c.3379G>A c.(3379-3381)GAG>AAG p.E1127K NM_006617 NP_006608 P48681 NEST_HUMAN nestin 1127 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TCCAAACTCTCCTCTTCCAGG 0.642 NA 13 119 0 0 0.00245 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156909582 156909582 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:156909582G>A uc001fqo.2 - 36 4774 c.3734C>T c.(3733-3735)TCT>TTT p.S1245F ARHGEF11_uc010phu.1_Missense_Mutation_p.S661F|ARHGEF11_uc001fqn.2_Missense_Mutation_p.S1285F NM_014784 NP_055599 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 1245 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1) 9 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCAGGGGTGAGAGGTGACGCT 0.652 NA 8 98 0 0 0.00308 0 0 CD1D 912 broad.mit.edu 37 1 158151368 158151368 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:158151368C>T uc001frr.2 + 3 684 c.185C>T c.(184-186)TCG>TTG p.S62L CD1D_uc009wsr.1_Missense_Mutation_p.S62L|CD1D_uc009wss.2_Missense_Mutation_p.S62L|CD1D_uc009wst.1_5'UTR NM_001766 NP_001757 P15813 CD1D_HUMAN CD1D antigen precursor 62 Extracellular (Potential). antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding ovary(1) 1 all_hematologic(112;0.0378) AGCAACGACTCGGACACCGTC 0.622 NA 21 232 0 0 0.014323 0 0 OR10X1 128367 broad.mit.edu 37 1 158548974 158548974 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:158548974G>T uc010pin.1 - 1 716 c.716C>A c.(715-717)TCT>TAT p.S239Y NM_001004477 NP_001004477 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, 239 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) GAGGACAGTAGAAATAATGAA 0.468 NA 71 60 1.48005e-37 1.87323e-37 0.01441 1 0 OR10Z1 128368 broad.mit.edu 37 1 158576567 158576567 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:158576567C>T uc010pio.1 + 1 339 c.339C>T c.(337-339)TTC>TTT p.F113F NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, 113 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1)|skin(1) 2 all_hematologic(112;0.0378) CTAACTGCTTCCTTCTGGCTG 0.557 NA 28 215 0 0 0.007291 0 0 FCER1A 2205 broad.mit.edu 37 1 159273941 159273941 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:159273941G>C uc001ftq.2 + 4 399 c.300G>C c.(298-300)GAG>GAC p.E100D NM_002001 NP_001992 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor 100 Extracellular (Potential).|Ig-like 1. integral to plasma membrane lung(2)|skin(2)|prostate(1) 5 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) AAGTTAATGAGAGTGAACCTG 0.403 NA 7 151 0 0 0.010729 0 0 SLAMF9 89886 broad.mit.edu 37 1 159921487 159921487 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:159921487C>G uc001fus.2 - 4 951 c.834G>C c.(832-834)TTG>TTC p.L278F SLAMF9_uc009wtd.2_Missense_Mutation_p.L187F|SLAMF9_uc001fut.2_3'UTR NM_033438 NP_254273 Q96A28 SLAF9_HUMAN SLAM family member 9 isoform 1 278 Cytoplasmic (Potential). integral to membrane ovary(1) 1 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CCTCCTTCCTCAATTTCATTC 0.512 NA 19 157 0 0 0.012319 0 0 SLAMF9 89886 broad.mit.edu 37 1 159922201 159922201 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:159922201C>A uc001fus.2 - 3 632 c.515G>T c.(514-516)CGG>CTG p.R172L SLAMF9_uc009wtd.2_Intron|SLAMF9_uc001fut.2_Intron NM_033438 NP_254273 Q96A28 SLAF9_HUMAN SLAM family member 9 isoform 1 172 Ig-like C2-type.|Extracellular (Potential). integral to membrane ovary(1) 1 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GCTATCCCCCCGGGAGAGCCA 0.577 NA 126 115 1.05089e-66 1.33259e-66 0.01441 1 0 PPOX 5498 broad.mit.edu 37 1 161140875 161140875 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:161140875G>C uc001fyj.2 + 13 1633 c.1343G>C c.(1342-1344)GGA>GCA p.G448A PPOX_uc001fyn.2_Missense_Mutation_p.G156A|PPOX_uc001fyg.2_Missense_Mutation_p.G448A|PPOX_uc001fyl.2_Missense_Mutation_p.G414A|PPOX_uc001fym.2_RNA|PPOX_uc001fyk.2_Missense_Mutation_p.G286A|PPOX_uc001fyh.2_Missense_Mutation_p.G286A|PPOX_uc010pkg.1_Missense_Mutation_p.G286A|PPOX_uc009wuc.1_Missense_Mutation_p.G249A|PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Intron NM_001122764 NP_001116236 P50336 PPOX_HUMAN protoporphyrinogen oxidase 448 heme biosynthetic process intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity ovary(1) 1 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) ACTCTGGCTGGAGCCTCCTAT 0.532 NA Porphyria_Variegata 11 258 0 0 0.010729 0 0 C1orf192 257177 broad.mit.edu 37 1 161334856 161334856 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:161334856G>C uc001gal.2 - 5 439 c.433C>G c.(433-435)CCA>GCA p.P145A NM_001013625 NP_001013647 Q5VTH2 CA192_HUMAN hypothetical protein LOC257177 145 0 all_cancers(52;4.64e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) GGGGAGCTTGGAATTATGGTT 0.488 NA 21 140 0 0 0.008871 0 0 C1orf114 57821 broad.mit.edu 37 1 169394108 169394108 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:169394108C>G uc001gga.1 - 2 226 c.58G>C c.(58-60)GAA>CAA p.E20Q C1orf114_uc001gfz.1_Missense_Mutation_p.E20Q|C1orf114_uc009wvq.1_Missense_Mutation_p.E20Q|C1orf114_uc001ggb.2_Missense_Mutation_p.E20Q|C1orf114_uc001ggc.1_Missense_Mutation_p.E20Q NM_021179 NP_067002 Q5TID7 CA114_HUMAN hypothetical protein LOC57821 20 0 all_hematologic(923;0.208) AGGTCCTTTTCAAAGTCATCT 0.274 NA 9 75 0 0 0.006214 0 0 SELP 6403 broad.mit.edu 37 1 169581480 169581480 + Nonsense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:169581480C>T uc001ggi.3 - 6 1001 c.936G>A c.(934-936)TGG>TGA p.W312* SELP_uc001ggh.2_Nonsense_Mutation_p.W147*|SELP_uc009wvr.2_Nonsense_Mutation_p.W312* NM_003005 NP_002996 P16109 LYAM3_HUMAN selectin P precursor 312 Extracellular (Potential).|Sushi 2. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding ovary(2)|skin(2) 4 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) CTGGGGCTGTCCATACCCCCG 0.488 NA 13 108 0 0 0.004007 0 0 BAT2L2 23215 broad.mit.edu 37 1 171544252 171544252 + Missense_Mutation SNP A A G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:171544252A>G uc010pmg.1 + 25 7200 c.6934A>G c.(6934-6936)ACA>GCA p.T2312A BAT2L2_uc010pmh.1_Missense_Mutation_p.T1224A|BAT2L2_uc010pmi.1_Missense_Mutation_p.T149A NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN HBxAg transactivated protein 2 2312 protein C-terminus binding 0 AGTCACTCCTACAGCATCACT 0.388 NA 3 34 0 0 0.009096 0 0 BAT2L2 23215 broad.mit.edu 37 1 171544259 171544259 + Nonsense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:171544259C>G uc010pmg.1 + 25 7207 c.6941C>G c.(6940-6942)TCA>TGA p.S2314* BAT2L2_uc010pmh.1_Nonsense_Mutation_p.S1226*|BAT2L2_uc010pmi.1_Nonsense_Mutation_p.S151* NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN HBxAg transactivated protein 2 2314 protein C-terminus binding 0 CCTACAGCATCACTATCAGGT 0.388 NA 3 33 0 0 0.009096 0 0 SLC9A11 284525 broad.mit.edu 37 1 173526632 173526632 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:173526632C>A uc001giz.2 - 10 1485 c.1062G>T c.(1060-1062)TTG>TTT p.L354F SLC9A11_uc009wwe.2_5'UTR|SLC9A11_uc010pmq.1_RNA NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 354 Helical; (Potential). sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ovary(2) 2 GGCTCACTAACAAAATAGTAA 0.308 NA 23 157 2.39556e-15 2.83808e-15 0.00278 1 0 GPR52 9293 broad.mit.edu 37 1 174418080 174418080 + Silent SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:174418080G>C uc001gka.1 + 1 869 c.831G>C c.(829-831)CTG>CTC p.L277L RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron|uc010pmu.1_RNA NM_005684 NP_005675 Q9Y2T5 GPR52_HUMAN G protein-coupled receptor 52 277 Helical; Name=6; (Potential). integral to plasma membrane G-protein coupled receptor activity skin(1) 1 TTTATATGCTGTGGCTCCCCT 0.438 Ovarian(92;924 1390 1930 16467 40583) NA 16 127 0 0 0.004007 0 0 TNN 63923 broad.mit.edu 37 1 175046812 175046812 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:175046812C>T uc001gkl.1 + 2 371 c.258C>T c.(256-258)TTC>TTT p.F86F TNN_uc010pmx.1_Silent_p.F86F NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 86 cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) ACATCATCTTCAGGCACAACA 0.612 NA 9 41 0 0 0.004482 0 0 DHX9 1660 broad.mit.edu 37 1 182850485 182850485 + Missense_Mutation SNP A A T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:182850485A>T uc001gpr.2 + 23 2874 c.2711A>T c.(2710-2712)CAT>CTT p.H904L DHX9_uc001gps.2_Missense_Mutation_p.H690L|DHX9_uc001gpt.2_Missense_Mutation_p.H183L|DHX9_uc009wyd.2_5'UTR NM_001357 NP_001348 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 9 904 CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding ovary(2) 2 GGCTATATCCATCGAAATTTT 0.448 Colon(69;210 1162 3697 13559 39565) NA 8 163 0 0 0.004482 0 0 KCNT2 343450 broad.mit.edu 37 1 196395074 196395074 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:196395074C>A uc001gtd.1 - 11 1089 c.1029G>T c.(1027-1029)CAG>CAT p.Q343H KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.Q343H|KCNT2_uc001gtf.1_Missense_Mutation_p.Q343H|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.2_Missense_Mutation_p.Q343H|KCNT2_uc009wyv.1_Missense_Mutation_p.Q318H NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 343 Cytoplasmic (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 CCCTTCGAACCTGTACATCCA 0.373 NA 16 73 6.49762e-13 7.55037e-13 0.006122 1 0 CFHR4 10877 broad.mit.edu 37 1 196881996 196881996 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:196881996C>G uc001gto.2 + 3 452 c.383C>G c.(382-384)TCT>TGT p.S128C CFHR4_uc009wyy.2_Missense_Mutation_p.S374C|CFHR4_uc001gtp.2_Missense_Mutation_p.S375C NM_006684 NP_006675 Q92496 FHR4_HUMAN complement factor H-related 4 precursor 128 Sushi 2. extracellular region lipid transporter activity ovary(1)|pancreas(1)|skin(1) 3 GATGGAAATTCTTCAGGTTCA 0.294 NA 21 141 0 0 0.00278 0 0 KIF21B 23046 broad.mit.edu 37 1 200965360 200965360 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:200965360C>T uc001gvs.1 - 15 2558 c.2241G>A c.(2239-2241)AAG>AAA p.K747K KIF21B_uc001gvr.1_Silent_p.K747K|KIF21B_uc009wzl.1_Silent_p.K747K|KIF21B_uc010ppn.1_Silent_p.K747K NM_017596 NP_060066 O75037 KI21B_HUMAN kinesin family member 21B 747 Potential. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3)|skin(3) 6 CGGCCTGTAGCTTCTTCAGCT 0.607 NA 16 269 0 0 0.007413 0 0 TNNI1 7135 broad.mit.edu 37 1 201383732 201383732 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:201383732C>T uc010ppq.1 - 5 196 c.103G>A c.(103-105)GAG>AAG p.E35K TNNI1_uc001gwo.1_RNA|TNNI1_uc001gwp.2_Missense_Mutation_p.E14K NM_003281 NP_003272 P19237 TNNI1_HUMAN troponin I, skeletal, slow 35 Involved in binding TNC. muscle filament sliding|regulation of striated muscle contraction cytosol|troponin complex actin binding|tropomyosin binding 0 TCGCGCTCCTCGTGCTCCTGC 0.662 NA 13 46 0 0 0.001855 0 0 ATP2B4 493 broad.mit.edu 37 1 203682343 203682343 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:203682343G>A uc001gzw.2 + 14 3146 c.2262G>A c.(2260-2262)GCG>GCA p.A754A ATP2B4_uc001gzv.2_Silent_p.A754A|ATP2B4_uc009xaq.2_Silent_p.A754A NM_001684 NP_001675 P23634 AT2B4_HUMAN plasma membrane calcium ATPase 4 isoform 4b 754 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|skin(1) 3 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) GGGTCCTGGCGCGATCTTCTC 0.542 NA 20 158 0 0 0.010504 0 0 LAX1 54900 broad.mit.edu 37 1 203740522 203740522 + Missense_Mutation SNP T T C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:203740522T>C uc001haa.2 + 3 637 c.227T>C c.(226-228)GTC>GCC p.V76A LAX1_uc010pql.1_Missense_Mutation_p.V60A|LAX1_uc001hab.2_5'UTR NM_017773 NP_060243 Q8IWV1 LAX1_HUMAN lymphocyte transmembrane adaptor 1 isoform a 76 Cytoplasmic (Potential). B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation Golgi apparatus|integral to membrane|plasma membrane protein kinase binding|SH2 domain binding central_nervous_system(2) 2 all_cancers(21;0.0915) BRCA - Breast invasive adenocarcinoma(75;0.109) CGAGTTACCGTCATGCCCTTG 0.493 NA 26 337 0 0 0.005443 0 0 SRGAP2 23380 broad.mit.edu 37 1 206628307 206628307 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:206628307G>A uc001hdy.2 + 18 2516 c.2183G>A c.(2182-2184)AGA>AAA p.R728K SRGAP2_uc001hdx.2_Missense_Mutation_p.R728K|SRGAP2_uc010pru.1_Missense_Mutation_p.R651K NM_015326 NP_056141 O75044 FNBP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 815 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding 0 Breast(84;0.137) GTGACAGCCAGAGCGGGGGCC 0.537 NA 19 93 0 0 0.007413 0 0 SYT14 255928 broad.mit.edu 37 1 210267810 210267810 + Missense_Mutation SNP A A T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:210267810A>T uc009xcv.2 + 5 658 c.586A>T c.(586-588)AAC>TAC p.N196Y SYT14_uc001hhs.3_Missense_Mutation_p.N241Y|SYT14_uc001hht.3_Missense_Mutation_p.N196Y|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Missense_Mutation_p.N241Y|SYT14_uc010pso.1_Missense_Mutation_p.N158Y NM_153262 NP_694994 Q8NB59 SYT14_HUMAN synaptotagmin XIV isoform 4 196 Cytoplasmic (Potential). integral to membrane ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.085) CCACTGCAGCAACAGTCCAAG 0.423 NA 15 67 0 0 0.00499 0 0 KCNH1 3756 broad.mit.edu 37 1 211192440 211192440 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:211192440G>A uc001hib.2 - 6 887 c.717C>T c.(715-717)GTC>GTT p.V239V KCNH1_uc001hic.2_Silent_p.V239V NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 239 Helical; Name=Segment S1; (Potential). myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) TTTTGAAGGAGACATTATAAG 0.418 NA 11 63 0 0 0.010729 0 0 SLC30A10 55532 broad.mit.edu 37 1 220101607 220101607 + Missense_Mutation SNP T T C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:220101607T>C uc001hlw.2 - 1 387 c.176A>G c.(175-177)TAC>TGC p.Y59C SLC30A10_uc001hlu.1_Intron|SLC30A10_uc001hlx.2_5'UTR NM_018713 NP_061183 Q6XR72 ZNT10_HUMAN solute carrier family 30 (zinc transporter), 59 Helical; (Potential). zinc ion transport integral to membrane|plasma membrane cation transmembrane transporter activity 0 GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209) CCGGGCGATGTAGCCGGCGCT 0.701 Colon(76;360 1614 43677 51136) NA 3 6 0 0 0.004672 0 0 OBSCN 84033 broad.mit.edu 37 1 228560439 228560439 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:228560439C>T uc009xez.1 + 94 22004 c.21960C>T c.(21958-21960)TTC>TTT p.F7320F OBSCN_uc001hsr.1_Silent_p.F1949F NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 7320 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) ACCTCCCATTCGAGTTTATGA 0.602 NA 3 24 0 0 0.009096 0 0 URB2 9816 broad.mit.edu 37 1 229773396 229773396 + Silent SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:229773396C>G uc001hts.1 + 4 3172 c.3036C>G c.(3034-3036)CTC>CTG p.L1012L URB2_uc009xfd.1_Silent_p.L1012L NM_014777 NP_055592 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog 1012 nucleolus central_nervous_system(2)|ovary(1) 3 TGCAGATGCTCATCCAAATGA 0.448 NA 11 60 0 0 0.010729 0 0 MTR 4548 broad.mit.edu 37 1 237057700 237057700 + Nonsense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:237057700C>G uc001hyi.3 + 30 3671 c.3248C>G c.(3247-3249)TCA>TGA p.S1083* MTR_uc010pxw.1_Nonsense_Mutation_p.S676*|MTR_uc010pxx.1_Nonsense_Mutation_p.S1032*|MTR_uc010pxy.1_Nonsense_Mutation_p.S937* NM_000254 NP_000245 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine 1083 AdoMet activation. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) TACTGCCTCTCAGACTTCATC 0.572 NA 8 77 0 0 0.006214 0 0 RYR2 6262 broad.mit.edu 37 1 237660045 237660045 + Silent SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:237660045C>G uc001hyl.1 + 20 2316 c.2196C>G c.(2194-2196)CTC>CTG p.L732L NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 732 Cytoplasmic (By similarity).|B30.2/SPRY 1. 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) GCCTTCATCTCTGGTCAGGTA 0.473 NA 25 155 0 0 0.005443 0 0 RYR2 6262 broad.mit.edu 37 1 237711840 237711840 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:237711840G>T uc001hyl.1 + 26 3136 c.3016G>T c.(3016-3018)GTG>TTG p.V1006L NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1006 Cytoplasmic (By similarity).|2.|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGCACATAATGTGTGGGCGCG 0.488 NA 12 30 5.50884e-06 5.92644e-06 0.013537 1 0 RYR2 6262 broad.mit.edu 37 1 237801676 237801676 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:237801676G>T uc001hyl.1 + 45 6932 c.6812G>T c.(6811-6813)GGT>GTT p.G2271V NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2271 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TATTTGGCTGGTTGTGGACTG 0.403 NA 36 101 4.3181e-19 5.18017e-19 0.013726 1 0 OR2G3 81469 broad.mit.edu 37 1 247768923 247768923 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:247768923C>T uc010pyz.1 + 1 36 c.36C>T c.(34-36)TTC>TTT p.F12F NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, 12 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TAATGGATTTCATCCTTCTAG 0.468 NA 12 76 0 0 0.001855 0 0 OR14A16 284532 broad.mit.edu 37 1 247979009 247979009 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:247979009G>T uc001idm.1 - 1 23 c.23C>A c.(22-24)ACT>AAT p.T8N NM_001001966 NP_001001966 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, 8 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GATAAATTCAGTCACGATTGT 0.338 Ovarian(112;180 1586 15073 21914 33526) NA 4 42 0.00024832 0.000260834 0.009096 1 0 OR2T12 127064 broad.mit.edu 37 1 248458293 248458293 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:248458293G>A uc010pzj.1 - 1 588 c.588C>T c.(586-588)GCC>GCT p.A196A NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 196 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) AGATGTACATGGCGTTTTCGA 0.537 NA 14 95 0 0 0.001855 0 0 FBXO18 84893 broad.mit.edu 37 10 5948241 5948241 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr10:5948241G>T uc001iis.2 + 3 494 c.399G>T c.(397-399)CAG>CAT p.Q133H FBXO18_uc001iir.2_Missense_Mutation_p.Q59H|FBXO18_uc009xig.2_Missense_Mutation_p.Q59H|FBXO18_uc001iit.2_Missense_Mutation_p.Q184H NM_178150 NP_835363 Q8NFZ0 FBX18_HUMAN F-box only protein, helicase, 18 isoform 2 133 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(2)|skin(1) 3 AGAGTAACCAGGCTACCGGGA 0.622 NA 9 26 2.74318e-10 3.10119e-10 0.006214 1 0 KIN 22944 broad.mit.edu 37 10 7822262 7822262 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr10:7822262C>T uc001ijt.2 - 3 266 c.218G>A c.(217-219)CGA>CAA p.R73Q KIN_uc010qaz.1_RNA|KIN_uc009xip.2_Missense_Mutation_p.R73Q|KIN_uc010qba.1_5'UTR NM_012311 NP_036443 O60870 KIN17_HUMAN HsKin17 protein 73 DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing cytoplasm|nuclear matrix double-stranded DNA binding|RNA binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 AAAGTCATTTCGGAATTCCCT 0.294 NA 6 54 0 0 0.001984 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37505151 37505151 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr10:37505151G>T uc001iza.1 + 32 2843 c.2744G>T c.(2743-2745)TGT>TTT p.C915F NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 971 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 GTTCATTCTTGTGAAAGAGCA 0.333 NA 22 36 5.35356e-11 6.10397e-11 0.00278 1 0 BMS1 9790 broad.mit.edu 37 10 43326498 43326498 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr10:43326498G>C uc001jaj.2 + 23 4161 c.3803G>C c.(3802-3804)AGA>ACA p.R1268T NM_014753 NP_055568 Q14692 BMS1_HUMAN BMS1-like, ribosome assembly protein 1268 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity ovary(2)|upper_aerodigestive_tract(1) 3 AAGGAAAGAAGAAACCAGAAG 0.537 NA 3 12 0 0 0.009096 0 0 LOC100133308 100133308 broad.mit.edu 37 10 45611486 45611486 + Splice_Site SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr10:45611486C>T uc001jbz.2 - 4 c.265_splice c.e4-1 LOC100133308_uc009xmq.1_RNA Homo sapiens cDNA FLJ32851 fis, clone TESTI2003432. 0 TTCTTCAGTTCTGCTGTGTTT 0.448 NA 6 29 0 0 0.001168 0 0 CCDC6 8030 broad.mit.edu 37 10 61666021 61666021 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr10:61666021G>A uc001jks.3 - 1 798 c.162C>T c.(160-162)TTC>TTT p.F54F NM_005436 NP_005427 Q16204 CCDC6_HUMAN coiled-coil domain containing 6 54 Potential. cytoplasm|cytoskeleton SH3 domain binding|structural constituent of cytoskeleton ovary(3)|breast(1) 4 Kidney(211;0.0597) CCTCCAGGCGGAACGGCGAGA 0.493 NA 45 62 0 0 0.01441 0 0 EGR2 1959 broad.mit.edu 37 10 64573000 64573000 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr10:64573000G>A uc010qim.1 - 3 1552 c.1398C>T c.(1396-1398)CTC>CTT p.L466L EGR2_uc010qin.1_Silent_p.L416L|EGR2_uc001jmi.2_Silent_p.L466L|EGR2_uc010qio.1_Silent_p.L479L|EGR2_uc009xph.2_Silent_p.L466L NM_001136177 NP_001129649 P11161 EGR2_HUMAN early growth response 2 protein isoform a 466 fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter cytoplasm|nucleus chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding ovary(2) 2 Prostate(12;0.0297)|all_hematologic(501;0.228) AGCAAGGGGCGAGCGGCCCTC 0.652 NA 17 73 0 0 0.00499 0 0 LRRTM3 347731 broad.mit.edu 37 10 68857373 68857373 + Missense_Mutation SNP T T A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr10:68857373T>A uc001jmz.1 + 3 2115 c.1565T>A c.(1564-1566)TTT>TAT p.F522Y CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron NM_178011 NP_821079 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 522 Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 GTGTCAACCTTTCTGGCATAC 0.398 NA 5 68 0 0 0.000602 0 0 CHCHD1 118487 broad.mit.edu 37 10 75542100 75542100 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr10:75542100G>C uc001jvc.3 + 2 170 c.144G>C c.(142-144)GAG>GAC p.E48D CHCHD1_uc001jvb.2_Missense_Mutation_p.E48D NM_203298 NP_976043 Q96BP2 CHCH1_HUMAN coiled-coil-helix-coiled-coil-helix domain 48 CHCH. nucleus 0 Prostate(51;0.0112) GCATCACGGAGATGTCGGTGA 0.602 NA 16 41 0 0 0.004007 0 0 HPSE2 60495 broad.mit.edu 37 10 100481571 100481571 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr10:100481571G>A uc001kpn.1 - 5 859 c.799C>T c.(799-801)CGG>TGG p.R267W HPSE2_uc009xwc.1_Missense_Mutation_p.R257W|HPSE2_uc001kpo.1_Missense_Mutation_p.R199W|HPSE2_uc009xwd.1_Missense_Mutation_p.R145W NM_021828 NP_068600 Q8WWQ2 HPSE2_HUMAN heparanase 2 267 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity ovary(1) 1 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) TGCATGGTCCGATAGTTATTT 0.473 NA 24 67 0 0 0.004656 0 0 BTRC 8945 broad.mit.edu 37 10 103292112 103292112 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr10:103292112G>C uc001kta.2 + 8 1014 c.901G>C c.(901-903)GAA>CAA p.E301Q BTRC_uc001ktb.2_Missense_Mutation_p.E265Q|BTRC_uc001ktc.2_Missense_Mutation_p.E275Q NM_033637 NP_378663 Q9Y297 FBW1A_HUMAN beta-transducin repeat containing protein 301 WD 1. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway cytosol|nucleus|SCF ubiquitin ligase complex ovary(1) 1 Colorectal(252;0.234) Epithelial(162;1.05e-08)|all cancers(201;6.59e-07) CTGCCGAAGTGAAACAAGCAA 0.393 NA 15 98 0 0 0.003163 0 0 C10orf79 80217 broad.mit.edu 37 10 105947204 105947204 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr10:105947204G>C uc001kxw.2 - 14 1850 c.1734C>G c.(1732-1734)ATC>ATG p.I578M C10orf79_uc009xxq.2_5'Flank|C10orf79_uc001kxx.3_Missense_Mutation_p.I579M NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN hypothetical protein LOC80217 578 0 Colorectal(252;0.178) Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194) ACTTATGAATGATTTCATCTT 0.368 NA 11 48 0 0 0.013537 0 0 SMC3 9126 broad.mit.edu 37 10 112341740 112341740 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr10:112341740C>G uc001kze.2 + 9 733 c.607C>G c.(607-609)CTA>GTA p.L203V NM_005445 NP_005436 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 203 Potential. cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) ATTACATACTCTAGAGGAAGA 0.378 NA 22 96 0 0 0.014323 0 0 TDRD1 56165 broad.mit.edu 37 10 115970636 115970636 + Nonsense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr10:115970636C>T uc001lbg.1 + 13 1723 c.1570C>T c.(1570-1572)CAG>TAG p.Q524* TDRD1_uc001lbf.2_Nonsense_Mutation_p.Q515*|TDRD1_uc001lbh.1_Nonsense_Mutation_p.Q515*|TDRD1_uc001lbi.1_Nonsense_Mutation_p.Q515*|TDRD1_uc010qsc.1_Nonsense_Mutation_p.Q185*|TDRD1_uc001lbj.2_Nonsense_Mutation_p.Q233* NM_198795 NP_942090 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 524 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding 0 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) TGCTGAACTTCAGGCATCCCT 0.393 NA 12 55 0 0 0.001855 0 0 ATRNL1 26033 broad.mit.edu 37 10 116889092 116889092 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr10:116889092C>G uc001lcg.2 + 5 1010 c.624C>G c.(622-624)ATC>ATG p.I208M ATRNL1_uc001lce.2_RNA|ATRNL1_uc001lcf.2_Missense_Mutation_p.I208M|ATRNL1_uc009xyq.2_Missense_Mutation_p.I208M NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 208 CUB.|EGF-like 2.|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) TTTACAGAATCAATTCTTGTC 0.303 NA 6 48 0 0 0.00308 0 0 PNLIPRP3 119548 broad.mit.edu 37 10 118236285 118236285 + Silent SNP T T C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr10:118236285T>C uc001lcl.3 + 11 1395 c.1294T>C c.(1294-1296)TTG>CTG p.L432L NM_001011709 NP_001011709 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 precursor 432 PLAT. lipid catabolic process extracellular region triglyceride lipase activity ovary(1) 1 all cancers(201;0.0131) TCAGAATAAGTTGGGAGCAGA 0.308 NA 27 33 0 0 0.005443 0 0 INPP5F 22876 broad.mit.edu 37 10 121541266 121541266 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr10:121541266C>G uc001leo.2 + 3 464 c.298C>G c.(298-300)CAG>GAG p.Q100E INPP5F_uc001len.3_Missense_Mutation_p.Q100E NM_014937 NP_055752 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F 100 phosphoric ester hydrolase activity ovary(2) 2 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) AATGGAACCTCAGGATCTTGA 0.398 NA 14 40 0 0 0.00245 0 0 DMBT1 1755 broad.mit.edu 37 10 124348479 124348479 + Silent SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr10:124348479C>G uc001lgk.1 + 17 1909 c.1803C>G c.(1801-1803)GCC>GCG p.A601A DMBT1_uc001lgl.1_Silent_p.A591A|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Silent_p.A601A|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 601 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CCAGTTTGGCCCTGAGGCTGG 0.542 Ovarian(182;93 2026 18125 22222 38972) NA 62 227 0 0 0.01441 0 0 SYCE1 93426 broad.mit.edu 37 10 135369180 135369180 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr10:135369180C>T uc001lno.2 - 11 856 c.751G>A c.(751-753)GAG>AAG p.E251K CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Missense_Mutation_p.E123K|SYCE1_uc009ybn.2_Missense_Mutation_p.E251K|SYCE1_uc001lnn.2_Missense_Mutation_p.E215K NM_001143764 NP_001137236 Q8N0S2 SYCE1_HUMAN synaptonemal complex central element protein 1 251 Potential. cell division central element ovary(1) 1 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) AGGAGCTCCTCAGCCTTCCTG 0.438 NA 8 48 0 0 0.00308 0 0 MUC6 4588 broad.mit.edu 37 11 1025347 1025347 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:1025347C>T uc001lsw.2 - 23 2871 c.2820G>A c.(2818-2820)GCG>GCA p.A940A NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 940 VWFD 3. 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) AGTTTCTGTCCGCCAGCACCA 0.682 NA 12 43 0 0 0.010729 0 0 HBD 3045 broad.mit.edu 37 11 5254244 5254244 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:5254244G>C uc001maf.1 - 3 589 c.394C>G c.(394-396)CAG>GAG p.Q132E NM_000519 NP_000510 P02042 HBD_HUMAN delta globin 132 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACCACCTTCTGATAGGCAGCC 0.522 NA 16 79 0 0 0.003163 0 0 OR52N5 390075 broad.mit.edu 37 11 5799669 5799669 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:5799669G>A uc010qzn.1 - 1 196 c.196C>T c.(196-198)CCG>TCG p.P66S TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001001922 NP_001001922 Q8NH56 O52N5_HUMAN olfactory receptor, family 52, subfamily N, 66 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) AAATACATCGGATGATGTAAG 0.453 NA 13 83 0 0 0.001855 0 0 TRIM3 10612 broad.mit.edu 37 11 6472225 6472225 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:6472225G>C uc001mdh.2 - 10 2154 c.1767C>G c.(1765-1767)ATC>ATG p.I589M TRIM3_uc001mdi.2_Missense_Mutation_p.I589M|TRIM3_uc010raj.1_Missense_Mutation_p.I470M|TRIM3_uc009yfd.2_Missense_Mutation_p.I589M|TRIM3_uc010rak.1_Missense_Mutation_p.I589M NM_006458 NP_006449 O75382 TRIM3_HUMAN tripartite motif-containing 3 589 NHL 3. nervous system development|protein transport early endosome protein C-terminus binding|zinc ion binding central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1) 5 all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135) CGACCACAATGATATGTCCAT 0.552 Melanoma(6;5 510 1540 25169 29084) NA 4 54 0 0 0.000602 0 0 PPFIBP2 8495 broad.mit.edu 37 11 7674426 7674426 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:7674426G>C uc001mfj.3 + 24 2996 c.2608G>C c.(2608-2610)GAC>CAC p.D870H PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.1_Missense_Mutation_p.D804H|PPFIBP2_uc010rbe.1_Missense_Mutation_p.D758H|PPFIBP2_uc001mfl.3_Missense_Mutation_p.D727H|PPFIBP2_uc009yfj.1_Missense_Mutation_p.D514H NM_003621 NP_003612 Q8ND30 LIPB2_HUMAN PTPRF interacting protein, binding protein 2 870 cell communication|DNA integration intracellular DNA binding|integrase activity|protein binding ovary(2)|breast(2) 4 Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236) GGATGGGCTGGACCAGGTGGG 0.572 NA 9 53 0 0 0.006214 0 0 C11orf16 56673 broad.mit.edu 37 11 8943023 8943023 + Missense_Mutation SNP T T C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:8943023T>C uc001mhb.3 - 6 1368 c.1244A>G c.(1243-1245)CAC>CGC p.H415R C11orf16_uc001mhc.3_Intron NM_020643 NP_065694 Q9NQ32 CK016_HUMAN hypothetical protein LOC56673 415 upper_aerodigestive_tract(1)|pancreas(1) 2 Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234) CTGCTGTTTGTGATCCTTTTC 0.468 NA 49 75 0 0 0.01441 0 0 SBF2 81846 broad.mit.edu 37 11 9810801 9810801 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:9810801C>G uc001mib.2 - 35 4925 c.4787G>C c.(4786-4788)TGG>TCG p.W1596S uc001mhz.1_Intron|SBF2_uc001mid.2_Missense_Mutation_p.W240S|SBF2_uc001mic.2_5'Flank|uc001mie.3_Intron NM_030962 NP_112224 Q86WG5 MTMRD_HUMAN SET binding factor 2 1596 myelination cytoplasm|membrane phosphatase activity|protein binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) TAGCATCATCCAGTCATAGGA 0.517 NA 11 90 0 0 0.013537 0 0 MICAL2 9645 broad.mit.edu 37 11 12247773 12247773 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:12247773G>C uc001mjz.2 + 14 2032 c.1744G>C c.(1744-1746)GAT>CAT p.D582H MICAL2_uc010rch.1_Missense_Mutation_p.D582H|MICAL2_uc001mka.2_Missense_Mutation_p.D582H|MICAL2_uc010rci.1_Missense_Mutation_p.D582H|MICAL2_uc001mkb.2_Missense_Mutation_p.D582H|MICAL2_uc001mkc.2_Missense_Mutation_p.D582H|MICAL2_uc001mkd.2_Missense_Mutation_p.D411H|MICAL2_uc010rcj.1_5'UTR NM_014632 NP_055447 O94851 MICA2_HUMAN microtubule associated monoxygenase, calponin 582 CH. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding upper_aerodigestive_tract(2) 2 Epithelial(150;0.00552) GCTCGCATTTGATGTGGCCGA 0.507 NA 10 68 0 0 0.008291 0 0 TMEM86A 144110 broad.mit.edu 37 11 18723357 18723357 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:18723357C>T uc001moz.1 + 3 607 c.524C>T c.(523-525)ACA>ATA p.T175I NM_153347 NP_699178 Q8N2M4 TM86A_HUMAN transmembrane protein 86A 175 Helical; (Potential). integral to membrane ovary(1) 1 TGGCGCTGGACAGAGCTGGCA 0.602 NA 13 24 0 0 0.001855 0 0 NELL1 4745 broad.mit.edu 37 11 21594939 21594939 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:21594939C>A uc001mqe.2 + 19 2519 c.2366C>A c.(2365-2367)ACA>AAA p.T789K NELL1_uc001mqf.2_Missense_Mutation_p.T742K|NELL1_uc009yid.2_Missense_Mutation_p.T817K|NELL1_uc010rdo.1_Missense_Mutation_p.T732K|NELL1_uc010rdp.1_Missense_Mutation_p.T502K|NELL1_uc001mqh.2_Missense_Mutation_p.T334K NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 789 VWFC 5. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 TCTCCCTGCACAACCTGTAAA 0.468 NA 29 71 3.73148e-12 4.29861e-12 0.007291 1 0 MUC15 143662 broad.mit.edu 37 11 26582638 26582638 + Missense_Mutation SNP T T A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:26582638T>A uc001mqx.2 - 4 1245 c.979A>T c.(979-981)ATA>TTA p.I327L ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Missense_Mutation_p.I354L|MUC15_uc001mqy.2_Missense_Mutation_p.I304L NM_145650 NP_663625 Q8N387 MUC15_HUMAN mucin 15 isoform b 327 Cytoplasmic (Potential). extracellular region|integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|pancreas(1) 3 AGTGGAGGTATGTCATCCATA 0.388 NA 16 55 0 0 0.010504 0 0 BBOX1 8424 broad.mit.edu 37 11 27114762 27114762 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:27114762G>A uc001mre.1 + 5 750 c.382G>A c.(382-384)GAA>AAA p.E128K BBOX1_uc009yih.1_Missense_Mutation_p.E128K|BBOX1_uc001mrg.1_Missense_Mutation_p.E128K NM_003986 NP_003977 O75936 BODG_HUMAN gamma-butyrobetaine dioxygenase 128 carnitine biosynthetic process actin cytoskeleton|cytosol|intracellular membrane-bounded organelle gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Succinic acid(DB00139)|Vitamin C(DB00126) TTTGGATTTTGAAGATGTTTT 0.408 NA 9 40 0 0 0.004482 0 0 BBOX1 8424 broad.mit.edu 37 11 27141314 27141315 + Missense_Mutation DNP CC CC AT TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:27141314_27141315CC>AT uc001mre.1 + 7 1126_1127 c.758_759CC>AT c.(757-759)TCC>TAT p.S253Y BBOX1_uc009yih.1_Missense_Mutation_p.S253Y|BBOX1_uc001mrg.1_Missense_Mutation_p.S253Y NM_003986 NP_003977 O75936 BODG_HUMAN gamma-butyrobetaine dioxygenase 253 carnitine biosynthetic process actin cytoskeleton|cytosol|intracellular membrane-bounded organelle gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Succinic acid(DB00139)|Vitamin C(DB00126) CAGATTTTGTCCTCTACCTTTG 0.332 NA 13 42 0 0 0.004672 0 0 LGR4 55366 broad.mit.edu 37 11 27393196 27393196 + Silent SNP A A G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:27393196A>G uc001mrj.3 - 17 2030 c.1545T>C c.(1543-1545)CAT>CAC p.H515H LGR4_uc001mrk.3_Silent_p.H491H NM_018490 NP_060960 Q9BXB1 LGR4_HUMAN leucine-rich repeat-containing G protein-coupled 515 Extracellular (Potential). integral to membrane|plasma membrane protein-hormone receptor activity ovary(1) 1 TTATTTGACTATGTTCTTCAT 0.333 NA 11 72 0 0 0.010729 0 0 TRIM44 54765 broad.mit.edu 37 11 35827924 35827924 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:35827924G>A uc001mwi.2 + 5 1331 c.1024G>A c.(1024-1026)GAG>AAG p.E342K NM_017583 NP_060053 Q96DX7 TRI44_HUMAN DIPB protein 342 intracellular protein binding|zinc ion binding skin(1) 1 all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115) all_hematologic(20;0.107) CAGTGAAGAAGAGGACACATG 0.373 NA 19 83 0 0 0.010504 0 0 RAG2 5897 broad.mit.edu 37 11 36614707 36614707 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:36614707C>A uc001mwv.3 - 2 1200 c.1012G>T c.(1012-1014)GTT>TTT p.V338F C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank NM_000536 NP_000527 P55895 RAG2_HUMAN recombination activating gene 2 338 chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding skin(3)|ovary(1)|pancreas(1) 5 all_lung(20;0.226) all_hematologic(20;0.00756) TCTGAAACAACTTGTTTATTG 0.383 NA Familial_Hemophagocytic_Lymphohistiocytosis 34 149 1.99505e-19 2.40199e-19 0.012213 1 0 LRRC4C 57689 broad.mit.edu 37 11 40136944 40136944 + Missense_Mutation SNP T T A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:40136944T>A uc001mxa.1 - 2 2863 c.899A>T c.(898-900)CAC>CTC p.H300L LRRC4C_uc001mxc.1_Missense_Mutation_p.H296L|LRRC4C_uc001mxd.1_Missense_Mutation_p.H296L|LRRC4C_uc001mxb.1_Missense_Mutation_p.H296L NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 300 regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) CCAAGGGTTGTGATGTAAATG 0.478 NA 31 53 0 0 0.010818 0 0 DGKZ 8525 broad.mit.edu 37 11 46397681 46397681 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:46397681G>C uc001ncn.1 + 23 2766 c.2641G>C c.(2641-2643)GAG>CAG p.E881Q DGKZ_uc001nch.1_Missense_Mutation_p.E709Q|DGKZ_uc010rgq.1_Missense_Mutation_p.E636Q|DGKZ_uc001ncj.1_Missense_Mutation_p.E659Q|DGKZ_uc010rgr.1_Missense_Mutation_p.E658Q|DGKZ_uc001nck.1_Missense_Mutation_p.E471Q|DGKZ_uc001ncl.2_Missense_Mutation_p.E693Q|DGKZ_uc001ncm.2_Missense_Mutation_p.E692Q|DGKZ_uc009yky.1_Missense_Mutation_p.E693Q|DGKZ_uc010rgs.1_Missense_Mutation_p.E670Q NM_001105540 NP_001099010 Q13574 DGKZ_HUMAN diacylglycerol kinase zeta isoform 4 881 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding pancreas(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) TGCCCACATTGAGAGACTCCA 0.657 NA 11 61 0 0 0.010729 0 0 FNBP4 23360 broad.mit.edu 37 11 47746106 47746106 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:47746106C>T uc009ylv.2 - 13 2386 c.2233G>A c.(2233-2235)GAG>AAG p.E745K FNBP4_uc001ngi.2_Missense_Mutation_p.E59K|FNBP4_uc001ngj.2_Missense_Mutation_p.E652K|FNBP4_uc001ngl.2_RNA NM_015308 NP_056123 Q8N3X1 FNBP4_HUMAN formin binding protein 4 745 ovary(1) 1 TCACTTCCCTCATCCTCCATC 0.408 NA 21 103 0 0 0.012319 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735853 55735853 + Silent SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:55735853G>T uc010rit.1 - 1 87 c.87C>A c.(85-87)ATC>ATA p.I29I NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, 29 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.0137) TGCACATCAGGATCATCAAAT 0.333 NA 30 34 2.12542e-12 2.45694e-12 0.00632 1 0 OR5J2 282775 broad.mit.edu 37 11 55944604 55944604 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:55944604C>A uc010rjb.1 + 1 511 c.511C>A c.(511-513)CTA>ATA p.L171I NM_001005492 NP_001005492 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, 171 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|large_intestine(1)|breast(1)|pancreas(1) 4 Esophageal squamous(21;0.00693) CTTTTGTAGGCTAAATGCTGT 0.438 NA 17 41 1.45105e-14 1.70396e-14 0.006122 1 0 GIF 2694 broad.mit.edu 37 11 59604819 59604819 + Silent SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:59604819G>C uc001noi.2 - 6 747 c.699C>G c.(697-699)CTC>CTG p.L233L NM_005142 NP_005133 P27352 IF_HUMAN gastric intrinsic factor (vitamin B synthesis) 233 cobalamin metabolic process|cobalamin transport|cobalt ion transport apical plasma membrane|endosome|extracellular space|microvillus cobalamin binding ovary(1)|liver(1) 2 GTGTTACAGAGAGAGCCTGGG 0.413 NSCLC(53;1139 1245 16872 38474 42853) NA 5 16 0 0 0.000602 0 0 MS4A6A 64231 broad.mit.edu 37 11 59940556 59940556 + Missense_Mutation SNP A A G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:59940556A>G uc001nor.2 - 6 834 c.596T>C c.(595-597)CTA>CCA p.L199P MS4A6A_uc001noq.2_Silent_p.P164P|MS4A6A_uc001nos.3_Missense_Mutation_p.L227P|MS4A6A_uc009ymv.2_Missense_Mutation_p.L199P|MS4A6A_uc001not.2_Missense_Mutation_p.L199P|MS4A6A_uc010rla.1_Missense_Mutation_p.L227P|MS4A6A_uc010rlb.1_Missense_Mutation_p.L154P NM_152852 NP_690591 Q9H2W1 M4A6A_HUMAN membrane-spanning 4-domains, subfamily A, member 199 Helical; (Potential). integral to membrane receptor activity 0 GAGCACAGCTAGGCAGAATTC 0.488 NA 26 80 0 0 0.009535 0 0 AHNAK 79026 broad.mit.edu 37 11 62299280 62299280 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:62299280C>A uc001ntl.2 - 5 2909 c.2609G>T c.(2608-2610)GGC>GTC p.G870V AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 870 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) CCAGTCTGGGCCTTGAACCTC 0.478 NA 64 174 2.36135e-34 2.97174e-34 0.01441 1 0 ROM1 6094 broad.mit.edu 37 11 62381824 62381824 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:62381824C>A uc001ntv.2 + 2 1226 c.685C>A c.(685-687)CGT>AGT p.R229S EML3_uc001ntr.1_5'Flank|EML3_uc001nts.1_5'Flank|EML3_uc001ntt.1_5'Flank|EML3_uc001ntu.1_5'Flank|EML3_uc010rly.1_5'Flank NM_000327 NP_000318 Q03395 ROM1_HUMAN retinal outer segment membrane protein 1 229 Lumenal (Potential). R -> H. cell adhesion|visual perception integral to plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 CCTGCAAAACCGTCTTTCAGA 0.587 NA 19 69 7.07596e-05 7.49153e-05 0.006122 1 0 GANAB 23193 broad.mit.edu 37 11 62397071 62397071 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:62397071G>A uc001nub.2 - 15 1856 c.1823C>T c.(1822-1824)TCC>TTC p.S608F GANAB_uc001ntz.2_5'Flank|GANAB_uc001nua.2_Missense_Mutation_p.S630F|GANAB_uc001nuc.2_Missense_Mutation_p.S511F|GANAB_uc010rma.1_Missense_Mutation_p.S516F|GANAB_uc010rmb.1_Missense_Mutation_p.S494F NM_198334 NP_938148 Q14697 GANAB_HUMAN neutral alpha-glucosidase AB isoform 2 608 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 AAAGCGCTGGGAGCCAGCGAA 0.602 Melanoma(23;1005 1074 15747 18937) NA 7 26 0 0 0.004482 0 0 TIGD3 220359 broad.mit.edu 37 11 65124466 65124466 + Missense_Mutation SNP T T A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:65124466T>A uc001odo.3 + 2 1350 c.1187T>A c.(1186-1188)GTG>GAG p.V396E NM_145719 NP_663771 Q6B0B8 TIGD3_HUMAN tigger transposable element derived 3 396 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 TCCCGCTTTGTGGACCTGGAG 0.622 NA 18 71 0 0 0.007413 0 0 TIGD3 220359 broad.mit.edu 37 11 65124468 65124468 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:65124468G>A uc001odo.3 + 2 1352 c.1189G>A c.(1189-1191)GAC>AAC p.D397N NM_145719 NP_663771 Q6B0B8 TIGD3_HUMAN tigger transposable element derived 3 397 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 CCGCTTTGTGGACCTGGAGGG 0.622 NA 19 71 0 0 0.007413 0 0 SCYL1 57410 broad.mit.edu 37 11 65293487 65293487 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:65293487G>C uc001oea.1 + 3 425 c.348G>C c.(346-348)GAG>GAC p.E116D SCYL1_uc009yqk.2_Missense_Mutation_p.E116D|SCYL1_uc001oeb.1_Missense_Mutation_p.E116D|SCYL1_uc001oec.1_Missense_Mutation_p.E116D|SCYL1_uc001oed.1_5'UTR NM_020680 NP_065731 Q96KG9 NTKL_HUMAN SCY1-like 1 isoform A 116 Protein kinase. regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus ATP binding|DNA binding|protein tyrosine kinase activity skin(1) 1 AGGAGCTGGAGATCTCCTGGG 0.607 NA 9 91 0 0 0.006214 0 0 KCNK7 10089 broad.mit.edu 37 11 65360568 65360568 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:65360568C>T uc001oes.2 - 3 1056 c.832G>A c.(832-834)GAG>AAG p.E278K KCNK7_uc001oeq.2_3'UTR|KCNK7_uc001oer.2_3'UTR|KCNK7_uc001oeu.2_3'UTR NM_033347 NP_203133 Q9Y2U2 KCNK7_HUMAN potassium channel, subfamily K, member 7 isoform 278 Cytoplasmic (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity 0 CCTTGGTCCTCAGCAGTCACA 0.627 NA 4 20 0 0 0.009096 0 0 FIBP 9158 broad.mit.edu 37 11 65655442 65655442 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:65655442G>T uc001ogd.2 - 2 368 c.247C>A c.(247-249)CAG>AAG p.Q83K FIBP_uc009yqu.2_Missense_Mutation_p.Q80K|FIBP_uc001oge.2_Missense_Mutation_p.Q83K|FIBP_uc010roq.1_Missense_Mutation_p.Q83K|FIBP_uc010ror.1_Missense_Mutation_p.Q83K|CCDC85B_uc001ogf.2_5'Flank NM_198897 NP_942600 O43427 FIBP_HUMAN FGF intracellular binding protein isoform a 83 fibroblast growth factor receptor signaling pathway endomembrane system|membrane|microsome|mitochondrion|nucleus fibroblast growth factor binding ovary(1) 1 READ - Rectum adenocarcinoma(159;0.166) GGCGGAATCTGGAAGATGAGC 0.502 NA 7 25 0.000442599 0.000463444 0.006214 1 0 FCHSD2 9873 broad.mit.edu 37 11 72554227 72554227 + Silent SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:72554227G>C uc009ytl.2 - 16 1895 c.1674C>G c.(1672-1674)CTC>CTG p.L558L FCHSD2_uc010rrg.1_Silent_p.L422L|FCHSD2_uc001oth.3_Silent_p.L502L|FCHSD2_uc001oti.2_Silent_p.L517L|ATG16L2_uc009ytj.1_3'UTR NM_014824 NP_055639 O94868 FCSD2_HUMAN FCH and double SH3 domains 2 558 protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(5;3.3e-05) TGCCTGAAACGAGTTCTGCTT 0.522 NA 6 46 0 0 0.001168 0 0 ME3 10873 broad.mit.edu 37 11 86270746 86270746 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:86270746C>G uc001pbz.2 - 2 557 c.303G>C c.(301-303)CAG>CAC p.Q101H ME3_uc001pca.2_Missense_Mutation_p.Q101H|ME3_uc009yvk.2_Missense_Mutation_p.Q101H|ME3_uc010rtr.1_RNA NM_001014811 NP_001014811 Q16798 MAON_HUMAN mitochondrial malic enzyme 3 precursor 101 aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process mitochondrial matrix malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding ovary(1) 1 Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252) NADH(DB00157) CCAGGTCACTCTGCTGCCGCT 0.532 NA 31 145 0 0 0.003271 0 0 TYR 7299 broad.mit.edu 37 11 88911360 88911360 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:88911360G>T uc001pcs.2 + 1 321 c.239G>T c.(238-240)TGG>TTG p.W80L NM_000372 NP_000363 P14679 TYRO_HUMAN tyrosinase precursor 80 Lumenal, melanosome (Potential). W -> R (in OCA1A). eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) CGGGAGTCGTGGCCTTCCGTC 0.517 NA Oculocutaneous_Albinism 36 11 6.84511e-11 7.76478e-11 0.003271 1 0 DYNC2H1 79659 broad.mit.edu 37 11 102980339 102980339 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:102980339C>T uc001pho.2 + 1 180 c.36C>T c.(34-36)TTC>TTT p.F12F DYNC2H1_uc001phn.1_Silent_p.F12F|DYNC2H1_uc009yxe.1_Silent_p.F12F NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 12 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) GGAAGCTCTTCATCTTCACTA 0.517 NA 7 49 0 0 0.004482 0 0 CUL5 8065 broad.mit.edu 37 11 107965677 107965677 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:107965677G>T uc001pjv.2 + 15 2373 c.1706G>T c.(1705-1707)AGA>ATA p.R569I CUL5_uc001pju.2_RNA NM_003478 NP_003469 Q93034 CUL5_HUMAN Vasopressin-activated calcium-mobilizing 569 cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction cullin-RING ubiquitin ligase complex|cytosol calcium channel activity|receptor activity|ubiquitin protein ligase binding ovary(1) 1 all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217) CATAGTGGTAGAAAATTACAT 0.303 NA 6 66 1.06961e-07 1.17728e-07 0.00308 1 0 EXPH5 23086 broad.mit.edu 37 11 108385075 108385075 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:108385075C>G uc001pkk.2 - 6 1270 c.1159G>C c.(1159-1161)GAG>CAG p.E387Q EXPH5_uc010rvy.1_Missense_Mutation_p.E199Q|EXPH5_uc010rvz.1_Missense_Mutation_p.E231Q|EXPH5_uc010rwa.1_Missense_Mutation_p.E311Q NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 387 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) CTCAGGAACTCTTCCTGGTTC 0.453 NA 12 244 0 0 0.00245 0 0 FEZ1 9638 broad.mit.edu 37 11 125359520 125359520 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:125359520C>T uc001qbx.2 - 2 306 c.154G>A c.(154-156)GAA>AAA p.E52K FEZ1_uc010sbc.1_Missense_Mutation_p.E52K|FEZ1_uc001qby.1_Missense_Mutation_p.E52K NM_005103 NP_005094 Q99689 FEZ1_HUMAN zygin 1 isoform 1 52 axon guidance|cell adhesion|transport microtubule|plasma membrane central_nervous_system(3)|ovary(1) 4 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934) CTGATTATTTCGGAAGAAAAA 0.507 Melanoma(180;509 2033 10762 15939 24711) NA 5 58 0 0 0.000602 0 0 STT3A 3703 broad.mit.edu 37 11 125483032 125483032 + Missense_Mutation SNP T T A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:125483032T>A uc001qcd.2 + 13 1624 c.1514T>A c.(1513-1515)TTC>TAC p.F505Y STT3A_uc001qce.2_Missense_Mutation_p.F505Y|STT3A_uc010sbg.1_Missense_Mutation_p.F413Y|STT3A_uc009zbn.2_Missense_Mutation_p.F227Y NM_152713 NP_689926 P46977 STT3A_HUMAN integral membrane protein 1 505 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity 0 all_hematologic(175;0.228) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996) TTTGATGACTTCCGAGAAGCA 0.483 NA 39 33 0 0 0.011902 0 0 PATE1 160065 broad.mit.edu 37 11 125618573 125618573 + Missense_Mutation SNP A A G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:125618573A>G uc001qct.2 + 5 338 c.326A>G c.(325-327)TAT>TGT p.Y109C PATE1_uc009zbr.2_Missense_Mutation_p.Y97C NM_138294 NP_612151 Q8WXA2 PATE1_HUMAN expressed in prostate and testis precursor 109 extracellular region 0 TGGAGTGTCTATTTGGTGAAC 0.468 NA 28 35 0 0 0.008361 0 0 FLI1 2313 broad.mit.edu 37 11 128628062 128628062 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:128628062G>A uc010sbu.1 + 2 412 c.71G>A c.(70-72)GGA>GAA p.G24E FLI1_uc010sbt.1_5'UTR|FLI1_uc010sbv.1_5'UTR|FLI1_uc009zci.2_5'UTR|FLI1_uc001qen.2_5'UTR NM_002017 NP_002008 Q01543 FLI1_HUMAN Friend leukemia virus integration 1 24 hemostasis|organ morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/FLI1(2266) bone(2210)|soft_tissue(48)|autonomic_ganglia(4)|central_nervous_system(4)|lung(3)|ovary(2)|pancreas(2) 2273 all_hematologic(175;0.0641) Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182) OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327) TCAGCGTACGGAGCGGCAGCC 0.627 NA T EWSR1 Ewing sarcoma 4 6 0 0 0.009096 0 0 PRDM10 56980 broad.mit.edu 37 11 129814802 129814802 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:129814802G>A uc001qfm.2 - 6 858 c.626C>T c.(625-627)CCC>CTC p.P209L PRDM10_uc001qfj.2_Missense_Mutation_p.P123L|PRDM10_uc001qfk.2_Missense_Mutation_p.P123L|PRDM10_uc001qfl.2_Missense_Mutation_p.P123L|PRDM10_uc010sbx.1_Missense_Mutation_p.P123L|PRDM10_uc001qfn.2_Missense_Mutation_p.P209L|PRDM10_uc009zct.1_Missense_Mutation_p.P241L NM_020228 NP_064613 Q9NQV6 PRD10_HUMAN PR domain containing 10 isoform 1 209 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) GAGCACCAGGGGGAGGCTCGC 0.667 NA 17 20 0 0 0.007413 0 0 KDM5A 5927 broad.mit.edu 37 12 427406 427406 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:427406G>A uc001qif.1 - 19 3126 c.2763C>T c.(2761-2763)GTC>GTT p.V921V KDM5A_uc001qie.1_Silent_p.V921V|KDM5A_uc010sdn.1_Silent_p.V880V NM_001042603 NP_001036068 P29375 KDM5A_HUMAN retinoblastoma binding protein 2 isoform 1 921 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|ovary(1) 3 GCTTCTTCATGACATCCAAAG 0.498 NA T NUP98 AML 21 125 0 0 0.014323 0 0 WNK1 65125 broad.mit.edu 37 12 989170 989170 + Silent SNP A A G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:989170A>G uc001qio.3 + 11 3312 c.2805A>G c.(2803-2805)CCA>CCG p.P935P WNK1_uc001qip.3_Intron|WNK1_uc001qir.3_Intron NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 935 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CTGAGGTTCCACTTTCCTCTG 0.478 Colon(19;451 567 6672 12618 28860) NA 13 47 0 0 0.00245 0 0 MAGOHB 55110 broad.mit.edu 37 12 10766091 10766091 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:10766091C>A uc001qyq.1 - 1 93 c.41G>T c.(40-42)GGG>GTG p.G14V MAGOHB_uc001qyr.1_RNA NM_018048 NP_060518 Q96A72 MGN2_HUMAN mago-nashi homolog B 14 mRNA processing|mRNA transport|RNA splicing nucleus RNA binding breast(1) 1 GCCCTTGTGCCCTACGTAGTA 0.612 NA 45 67 1.61863e-15 1.92104e-15 0.01441 1 0 CSDA 8531 broad.mit.edu 37 12 10865907 10865907 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:10865907C>T uc001qyt.2 - 5 719 c.476G>A c.(475-477)GGC>GAC p.G159D CSDA_uc001qyu.2_Missense_Mutation_p.G159D NM_003651 NP_003642 P16989 DBPA_HUMAN cold shock domain protein A isoform a 159 negative regulation of transcription from RNA polymerase II promoter|response to cold cytoplasm|nucleus double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(2)|lung(1)|large_intestine(1) 4 Glioma(1;0.155) TCCATCCGGGCCAGTCACATT 0.502 NA 50 77 0 0 0.01441 0 0 GRIN2B 2904 broad.mit.edu 37 12 13720004 13720004 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:13720004C>A uc001rbt.2 - 12 2732 c.2553G>T c.(2551-2553)ATG>ATT p.M851I NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 851 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AACAGACACCCATAAAGCAAT 0.498 NA 19 42 1.67942e-08 1.86384e-08 0.006122 1 0 ARHGDIB 397 broad.mit.edu 37 12 15095518 15095518 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:15095518C>T uc001rcq.1 - 6 648 c.544G>A c.(544-546)GAC>AAC p.D182N ARHGDIB_uc001rcp.1_RNA NM_001175 NP_001166 P52566 GDIR2_HUMAN Rho GDP dissociation inhibitor (GDI) beta 182 actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol GTPase activator activity|Rho GDP-dissociation inhibitor activity 0 TCTTGCTTGTCATCGTCGGTG 0.562 NA 20 115 0 0 0.012319 0 0 PTPRO 5800 broad.mit.edu 37 12 15637097 15637097 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:15637097C>T uc001rcv.1 + 2 439 c.265C>T c.(265-267)CAT>TAT p.H89Y PTPRO_uc001rcw.1_Missense_Mutation_p.H89Y|PTPRO_uc001rcu.1_Missense_Mutation_p.H89Y NM_030667 NP_109592 Q16827 PTPRO_HUMAN receptor-type protein tyrosine phosphatase O 89 Fibronectin type-III 1.|Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 9 Hepatocellular(102;0.244) GGCCAGTTATCATGGCCTTTA 0.373 NA 9 50 0 0 0.006214 0 0 PTPRO 5800 broad.mit.edu 37 12 15637110 15637110 + Missense_Mutation SNP A A T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:15637110A>T uc001rcv.1 + 2 452 c.278A>T c.(277-279)TAT>TTT p.Y93F PTPRO_uc001rcw.1_Missense_Mutation_p.Y93F|PTPRO_uc001rcu.1_Missense_Mutation_p.Y93F NM_030667 NP_109592 Q16827 PTPRO_HUMAN receptor-type protein tyrosine phosphatase O 93 Fibronectin type-III 1.|Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 9 Hepatocellular(102;0.244) GGCCTTTATTATATAATCACT 0.373 NA 9 39 0 0 0.006214 0 0 RERGL 79785 broad.mit.edu 37 12 18234245 18234245 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:18234245G>A uc001rdq.2 - 6 692 c.498C>T c.(496-498)ATC>ATT p.I166I RERGL_uc001rdr.2_Silent_p.I165I NM_024730 NP_079006 Q9H628 RERGL_HUMAN RERG/RAS-like 166 Small GTPase-like. signal transduction membrane GTP binding|GTPase activity 0 TGATAATTCTGATAAACATCA 0.418 NA 11 60 0 0 0.010729 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:25398285C>A uc001rgp.1 - 2 215 c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 7 18 1.12685e-05 1.20838e-05 0.004482 1 0 BICD1 636 broad.mit.edu 37 12 32481160 32481160 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:32481160G>A uc001rku.2 + 5 1852 c.1771G>A c.(1771-1773)GAA>AAA p.E591K BICD1_uc001rkv.2_Missense_Mutation_p.E591K|BICD1_uc010skd.1_RNA NM_001714 NP_001705 Q96G01 BICD1_HUMAN bicaudal D homolog 1 isoform 1 591 anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton large_intestine(1)|central_nervous_system(1) 2 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) GGCCAGCAAAGAACCAAGTCC 0.498 NA 11 76 0 0 0.008291 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43826425 43826426 + Missense_Mutation DNP CC CC AT TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:43826425_43826426CC>AT uc010skx.1 - 20 2909_2910 c.2909_2910GG>AT c.(2908-2910)TGG>TAT p.W970Y ADAMTS20_uc001rno.1_Missense_Mutation_p.W124Y|ADAMTS20_uc001rnp.1_Missense_Mutation_p.W124Y NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 970 TSP type-1 4. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CTGAATAATGCCATCTTGTGAA 0.371 NA 16 21 0 0 0.004672 0 0 POU6F1 5463 broad.mit.edu 37 12 51584196 51584196 + Missense_Mutation SNP T T C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:51584196T>C uc001rxy.2 - 5 932 c.740A>G c.(739-741)GAG>GGG p.E247G POU6F1_uc001rxz.2_Missense_Mutation_p.E247G|POU6F1_uc001rya.2_Missense_Mutation_p.E247G NM_002702 NP_002693 Q14863 PO6F1_HUMAN POU class 6 homeobox 1 247 Homeobox. brain development|heart development|muscle organ development nucleus sequence-specific DNA binding transcription factor activity ovary(1) 1 ATTGAGAGCCTCTATGGCCTG 0.572 NA 6 120 0 0 0.001168 0 0 KRT80 144501 broad.mit.edu 37 12 52574327 52574327 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:52574327G>A uc001rzx.2 - 4 734 c.636C>T c.(634-636)TTC>TTT p.F212F KRT80_uc001rzw.2_Silent_p.F247F|KRT80_uc001rzy.2_Silent_p.F212F NM_182507 NP_872313 Q6KB66 K2C80_HUMAN keratin 80 isoform a 212 Coil 1B.|Rod. keratin filament structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.108) TCAACTCCACGAAGCTCTCCA 0.547 GBM(178;2309 2916 15678 35873) NA 26 105 0 0 0.004656 0 0 KRT75 9119 broad.mit.edu 37 12 52824329 52824329 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:52824329G>C uc001saj.2 - 5 1053 c.1031C>G c.(1030-1032)ACC>AGC p.T344S NM_004693 NP_004684 O95678 K2C75_HUMAN keratin 75 344 Coil 2.|Rod. keratin filament structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.192) GCTCACCTTGGTCTGGTACCA 0.542 NA 51 71 0 0 0.01441 0 0 TENC1 23371 broad.mit.edu 37 12 53457028 53457028 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:53457028G>A uc001sbp.2 + 26 4114 c.3979G>A c.(3979-3981)GAC>AAC p.D1327N TENC1_uc001sbl.2_Missense_Mutation_p.D1203N|TENC1_uc001sbn.2_Missense_Mutation_p.D1337N|TENC1_uc001sbq.2_Missense_Mutation_p.D725N|TENC1_uc001sbr.2_RNA|TENC1_uc009zmr.2_Missense_Mutation_p.D820N|TENC1_uc001sbs.2_Missense_Mutation_p.D146N NM_170754 NP_736610 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase 1327 intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding ovary(1)|pancreas(1) 2 TACACTGACGGACAACCAAAG 0.582 NA 18 55 0 0 0.008871 0 0 MFSD5 84975 broad.mit.edu 37 12 53647661 53647661 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:53647661C>T uc001sci.1 + 2 1233 c.1042C>T c.(1042-1044)CTA>TTA p.L348L MFSD5_uc001sch.1_Silent_p.L455L NM_032889 NP_116278 Q6N075 MFSD5_HUMAN major facilitator superfamily domain containing 348 Helical; (Potential). transport integral to membrane skin(2)|ovary(1) 3 CATAGCCTTTCTACTTATTGA 0.507 NA 18 83 0 0 0.007413 0 0 GLI1 2735 broad.mit.edu 37 12 57863408 57863408 + Silent SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:57863408C>G uc001snx.2 + 11 1581 c.1503C>G c.(1501-1503)CTC>CTG p.L501L GLI1_uc009zpq.2_Silent_p.L373L NM_005269 NP_005260 P08151 GLI1_HUMAN GLI family zinc finger 1 isoform 1 501 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1) 15 GBM - Glioblastoma multiforme(3;3.99e-32) TTGAGAACCTCAGGCTGGACC 0.617 Pancreas(157;841 1936 10503 41495 50368) NA 19 58 0 0 0.008871 0 0 NAV3 89795 broad.mit.edu 37 12 78452786 78452786 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:78452786G>C uc001syp.2 + 12 2700 c.2527G>C c.(2527-2529)GAT>CAT p.D843H NAV3_uc001syo.2_Missense_Mutation_p.D843H|NAV3_uc010sub.1_Missense_Mutation_p.D343H NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 843 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 GTACATGACAGATGGAGGACT 0.388 NA HNSCC(70;0.22) 15 34 0 0 0.00499 0 0 NAV3 89795 broad.mit.edu 37 12 78562540 78562540 + Silent SNP T T A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:78562540T>A uc001syp.2 + 24 5048 c.4875T>A c.(4873-4875)TCT>TCA p.S1625S NAV3_uc001syo.2_Silent_p.S1625S|NAV3_uc010sub.1_Silent_p.S1111S|NAV3_uc009zsf.2_Silent_p.S456S NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1625 Potential. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 CACAGGAATCTGAACTTATAG 0.403 NA HNSCC(70;0.22) 21 47 0 0 0.012319 0 0 GALNT4 8693 broad.mit.edu 37 12 89917428 89917428 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:89917428C>G uc001tbd.2 - 1 1108 c.899G>C c.(898-900)AGA>ACA p.R300T POC1B_uc001tba.2_Intron|POC1B_uc001tbb.2_Intron|POC1B_uc001tbc.2_Intron|POC1B_uc010sun.1_Intron|GALNT4_uc001tbe.2_Missense_Mutation_p.R297T|GALNT4_uc010suo.1_5'UTR NM_003774 NP_003765 Q8N4A0 GALT4_HUMAN polypeptide N-acetylgalactosaminyltransferase 4 300 Lumenal (Potential). carbohydrate metabolic process Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding 0 GGGGTCAATTCTTGATATCCG 0.468 NA 18 73 0 0 0.007413 0 0 HAL 3034 broad.mit.edu 37 12 96389479 96389479 + Silent SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:96389479G>C uc001tem.1 - 2 507 c.210C>G c.(208-210)CTC>CTG p.L70L HAL_uc009zti.1_RNA|HAL_uc010suw.1_5'UTR|HAL_uc010sux.1_Silent_p.L70L NM_002108 NP_002099 P42357 HUTH_HUMAN histidine ammonia-lyase 70 biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity ovary(2)|skin(1) 3 L-Histidine(DB00117) GGGCCACCTCGAGCCGGTCCT 0.622 NSCLC(169;943 2815 23563 30031) NA 22 27 0 0 0.00333 0 0 ACAD10 80724 broad.mit.edu 37 12 112153654 112153654 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:112153654G>A uc001tsq.2 + 7 1080 c.880G>A c.(880-882)GGG>AGG p.G294R ACAD10_uc001tso.3_Intron|ACAD10_uc001tsp.2_Missense_Mutation_p.G294R|ACAD10_uc009zvx.2_Missense_Mutation_p.G325R|ACAD10_uc001tsr.2_Missense_Mutation_p.G32R|ACAD10_uc001tss.1_RNA NM_025247 NP_079523 Q6JQN1 ACD10_HUMAN acyl-Coenzyme A dehydrogenase family, member 10 294 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups ovary(2) 2 GTTTGATCACGGGCAGTCAAA 0.473 NA 38 103 0 0 0.006999 0 0 RASAL1 8437 broad.mit.edu 37 12 113565663 113565663 + Silent SNP G G A rs61759864 byFrequency TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:113565663G>A uc001tum.1 - 5 545 c.252C>T c.(250-252)ATC>ATT p.I84I RASAL1_uc010syp.1_Silent_p.I84I|RASAL1_uc001tul.2_Silent_p.I84I|RASAL1_uc001tun.1_Silent_p.I84I|RASAL1_uc010syq.1_Silent_p.I84I|RASAL1_uc001tuo.3_Silent_p.I84I|RASAL1_uc010syr.1_Silent_p.I84I NM_004658 NP_004649 O95294 RASL1_HUMAN RAS protein activator like 1 84 C2 1. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity ovary(2)|skin(2) 4 AGATCTTGCCGATGATGTCGT 0.662 NA 7 77 0 0 0.001984 0 0 ORAI1 84876 broad.mit.edu 37 12 122064796 122064796 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:122064796C>G uc010szz.1 + 2 336 c.143C>G c.(142-144)TCC>TGC p.S48C NM_032790 NP_116179 Q96D31 CRCM1_HUMAN calcium release-activated calcium channel 48 Cytoplasmic (Potential). platelet activation|positive regulation of calcium ion transport integral to plasma membrane protein binding|store-operated calcium channel activity 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148) ccgccgccgtccgccgtcacc 0.363 NA 5 16 0 0 0.000602 0 0 WDR66 144406 broad.mit.edu 37 12 122396299 122396299 + Nonsense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:122396299C>T uc009zxk.2 + 12 1994 c.1852C>T c.(1852-1854)CAA>TAA p.Q618* NM_144668 NP_653269 Q8TBY9 WDR66_HUMAN WD repeat domain 66 618 WD 6. calcium ion binding ovary(1)|skin(1) 2 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) CCACCCATATCAACCCCTCAT 0.463 Esophageal Squamous(85;849 1794 49757 52143) NA 30 122 0 0 0.008361 0 0 MLXIP 22877 broad.mit.edu 37 12 122623049 122623049 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:122623049G>A uc001ubq.2 + 14 2335 c.2335G>A c.(2335-2337)GAG>AAG p.E779K MLXIP_uc001ubt.2_Missense_Mutation_p.E386K NM_014938 NP_055753 Q9HAP2 MLXIP_HUMAN MLX interacting protein 779 Leucine-zipper. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding ovary(2) 2 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) GATGCAGGAGGAGGCCCGGCG 0.627 Esophageal Squamous(105;787 1493 16200 18566 52466) NA 8 21 0 0 0.00308 0 0 VPS37B 79720 broad.mit.edu 37 12 123380591 123380591 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:123380591C>T uc001udl.2 - 1 122 c.19G>A c.(19-21)GAA>AAA p.E7K NM_024667 NP_078943 Q9H9H4 VP37B_HUMAN vacuolar protein sorting 37B 7 cellular membrane organization|endosome transport|protein transport late endosome membrane 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205) AACCGGGCTTCGCTCCCGGCG 0.692 NA 4 51 0 0 0.009096 0 0 DNAH10 196385 broad.mit.edu 37 12 124330325 124330325 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:124330325C>T uc001uft.3 + 30 5210 c.5185C>T c.(5185-5187)CCG>TCG p.P1729S NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1729 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CATCACCATGCCGCTAAGCAA 0.463 NA 23 42 0 0 0.00278 0 0 TMEM132D 121256 broad.mit.edu 37 12 129559035 129559035 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:129559035G>A uc009zyl.1 - 9 3013 c.2685C>T c.(2683-2685)CCC>CCT p.P895P TMEM132D_uc001uia.2_Silent_p.P433P NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 895 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) CATTGCTTCTGGGGAGGTCCA 0.517 NA 17 62 0 0 0.007413 0 0 TMEM132D 121256 broad.mit.edu 37 12 130184802 130184802 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:130184802C>T uc009zyl.1 - 2 849 c.521G>A c.(520-522)CGA>CAA p.R174Q NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 174 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TCGGGTCTCTCGGAAAGCAAA 0.682 NA 4 18 0 0 0.009096 0 0 PIWIL1 9271 broad.mit.edu 37 12 130842061 130842061 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:130842061G>A uc001uik.2 + 14 1718 c.1628G>A c.(1627-1629)AGA>AAA p.R543K PIWIL1_uc001uij.1_Missense_Mutation_p.R543K NM_004764 NP_004755 Q96J94 PIWL1_HUMAN piwi-like 1 543 RNA-binding (By similarity). gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) GCCTACTTAAGAGTCTTACAG 0.423 NA 18 62 0 0 0.014323 0 0 GOLGA3 2802 broad.mit.edu 37 12 133365817 133365817 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:133365817C>T uc001ukz.1 - 13 3166 c.2607G>A c.(2605-2607)CTG>CTA p.L869L GOLGA3_uc001ula.1_Silent_p.L869L|GOLGA3_uc001ulb.2_Silent_p.L869L NM_005895 NP_005886 Q08378 GOGA3_HUMAN Golgi autoantigen, golgin subfamily a, 3 869 Potential. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) TGGTGGCTTTCAGCTCACTGA 0.657 NA 11 42 0 0 0.010729 0 0 BRCA2 675 broad.mit.edu 37 13 32968918 32968918 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr13:32968918C>A uc001uub.1 + 25 9576 c.9349C>A c.(9349-9351)CAT>AAT p.H3117N NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 3117 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TATTAAGCCTCATATGTTAAT 0.398 Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332) NA D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination FanconAnemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 7 28 2.7689e-08 3.06278e-08 0.001984 1 0 INTS6 26512 broad.mit.edu 37 13 51963515 51963515 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr13:51963515C>A uc001vfk.2 - 6 1293 c.679G>T c.(679-681)GTA>TTA p.V227L INTS6_uc001vfj.2_Missense_Mutation_p.V214L|INTS6_uc001vfl.2_Missense_Mutation_p.V49L NM_012141 NP_036273 Q9UL03 INT6_HUMAN integrator complex subunit 6 isoform a 227 VWFA. snRNA processing actin cytoskeleton|integrator complex protein binding|transmembrane receptor activity ovary(1)|lung(1) 2 Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;7.7e-08) CCACTTTGTACTTTCTGCACC 0.348 NA 39 111 1.97e-11 2.25771e-11 0.010771 1 0 PCDH9 5101 broad.mit.edu 37 13 67802282 67802282 + Silent SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr13:67802282G>C uc001vik.2 - 2 983 c.291C>G c.(289-291)CTC>CTG p.L97L PCDH9_uc001vil.2_Silent_p.L97L|PCDH9_uc010thl.1_Silent_p.L97L|PCDH9_uc001vin.3_Silent_p.L97L NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 97 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) CGCCAGCACAGAGTTTTTCTC 0.438 NA 12 44 0 0 0.001855 0 0 KLF5 688 broad.mit.edu 37 13 73636220 73636220 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr13:73636220C>G uc001vje.2 + 2 807 c.483C>G c.(481-483)ATC>ATG p.I161M KLF5_uc001vjd.2_Missense_Mutation_p.I70M NM_001730 NP_001721 Q13887 KLF5_HUMAN Kruppel-like factor 5 161 transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1)|pancreas(1) 3 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) TAACACACATCAAGACAGAAC 0.527 NA 8 91 0 0 0.00308 0 0 ITGBL1 9358 broad.mit.edu 37 13 102250648 102250648 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr13:102250648G>T uc001vpb.2 + 7 1233 c.1014G>T c.(1012-1014)AGG>AGT p.R338S ITGBL1_uc010agb.2_Missense_Mutation_p.R289S|ITGBL1_uc001vpc.3_Missense_Mutation_p.R197S NM_004791 NP_004782 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat 338 VII.|Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity ovary(1)|skin(1) 2 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GCTCTGGGAGGGGTAAGTGAG 0.473 NA 14 15 4.3838e-07 4.78559e-07 0.001855 1 0 IRS2 8660 broad.mit.edu 37 13 110435157 110435157 + Missense_Mutation SNP T T G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr13:110435157T>G uc001vqv.2 - 1 3758 c.3244A>C c.(3244-3246)ACC>CCC p.T1082P NM_003749 NP_003740 Q9Y4H2 IRS2_HUMAN insulin receptor substrate 2 1082 fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus cytosol|plasma membrane insulin receptor binding|signal transducer activity large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1) 8 all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155) Breast(118;0.159) all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147) TGCGGCGGGGTGGCGGCCACA 0.637 Melanoma(100;613 2409 40847) NA 3 4 0 0 0.001984 0 0 OR11G2 390439 broad.mit.edu 37 14 20665870 20665870 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr14:20665870G>C uc010tlb.1 + 1 376 c.376G>C c.(376-378)GAC>CAC p.D126H NM_001005503 NP_001005503 Q8NGC1 O11G2_HUMAN olfactory receptor, family 11, subfamily G, 126 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) CTTCCTCTCTGACACCAAGAT 0.498 NA 12 49 0 0 0.010729 0 0 OR4E2 26686 broad.mit.edu 37 14 22133623 22133623 + Silent SNP T T C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr14:22133623T>C uc010tmd.1 + 1 327 c.327T>C c.(325-327)TGT>TGC p.C109C NM_001001912 NP_001001912 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, 109 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) TCTTTGCCTGTGCCGAGATCT 0.453 NA 8 211 0 0 0.00308 0 0 EFS 10278 broad.mit.edu 37 14 23828666 23828666 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr14:23828666G>T uc001wjo.2 - 4 1629 c.1021C>A c.(1021-1023)CCA>ACA p.P341T EFS_uc001wjp.2_Missense_Mutation_p.P248T|EFS_uc010tnm.1_Missense_Mutation_p.P172T NM_005864 NP_005855 O43281 EFS_HUMAN embryonal Fyn-associated substrate isoform 1 341 SH3-binding (Potential).|Pro-rich. cell adhesion|intracellular signal transduction cytoplasm SH3 domain binding large_intestine(1) 1 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) AGGCGGGGTGGGGGTGGGGGC 0.701 NA 35 20 6.05902e-23 7.42898e-23 0.003755 1 0 Unknown 0 broad.mit.edu 37 14 28733949 28733949 + Missense_Mutation SNP T T A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr14:28733949T>A uc001wqd.2 + 1 330 c.190T>A c.(190-192)TGT>AGT p.C64S SubName: Full=cDNA FLJ60537, highly similar to BCL2/adenovirus E1B 19 kDa protein-interacting protein 3; NA GAGTTCTCACTGTGACAGCCC 0.478 NA 40 29 0 0 0.011902 0 0 HECTD1 25831 broad.mit.edu 37 14 31597041 31597041 + Nonsense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr14:31597041G>C uc001wrc.1 - 26 5420 c.4931C>G c.(4930-4932)TCA>TGA p.S1644* HECTD1_uc001wrb.1_Translation_Start_Site|HECTD1_uc001wrd.1_Nonsense_Mutation_p.S1112* NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 1644 Ser-rich. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity ovary(3)|large_intestine(1)|lung(1) 5 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) ACTGGAAGTTGATGTGAGGCT 0.363 NA 34 146 0 0 0.006999 0 0 ARHGAP5 394 broad.mit.edu 37 14 32624150 32624150 + Missense_Mutation SNP T T C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr14:32624150T>C uc001wrl.2 + 7 4744 c.4505T>C c.(4504-4506)ATA>ACA p.I1502T ARHGAP5_uc001wrm.2_Missense_Mutation_p.I1501T|ARHGAP5_uc001wrn.2_Missense_Mutation_p.I1502T|ARHGAP5_uc001wro.2_Missense_Mutation_p.I241T|ARHGAP5_uc001wrp.2_Missense_Mutation_p.I237T NM_001173 NP_001025226 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 isoform b 1502 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding ovary(4)|central_nervous_system(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) CTTGGTATTATATGAGTAGGA 0.433 NSCLC(9;77 350 3443 29227 41353) NA 61 52 0 0 0.01441 0 0 PAX9 5083 broad.mit.edu 37 14 37132112 37132112 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr14:37132112C>A uc001wty.3 + 3 732 c.15C>A c.(13-15)TTC>TTA p.F5L NM_006194 NP_006185 P55771 PAX9_HUMAN paired box 9 5 Paired. multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218) Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189) GBM - Glioblastoma multiforme(112;0.0181) AGCCAGCCTTCGGGGAGGTGA 0.662 NA 20 127 1.55795e-14 1.82627e-14 0.012319 1 0 FOXA1 3169 broad.mit.edu 37 14 38060627 38060627 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr14:38060627G>A uc001wuf.2 - 2 1674 c.1362C>T c.(1360-1362)GCC>GCT p.A454A FOXA1_uc010tpz.1_Silent_p.A421A NM_004496 NP_004487 P55317 FOXA1_HUMAN forkhead box A1 454 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding 0 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) CCGGCTCCAGGGCTGAGGGCT 0.617 NA 14 128 0 0 0.003163 0 0 FAM179B 23116 broad.mit.edu 37 14 45431916 45431916 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr14:45431916C>G uc001wvv.2 + 1 501 c.292C>G c.(292-294)CGG>GGG p.R98G FAM179B_uc001wvw.2_Missense_Mutation_p.R98G|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.R98G|FAM179B_uc001wvu.2_Missense_Mutation_p.R98G NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN hypothetical protein LOC23116 98 binding skin(2)|upper_aerodigestive_tract(1) 3 AGAGGACACTCGGCTCCTTCA 0.642 NA 7 116 0 0 0.001984 0 0 TRIM9 114088 broad.mit.edu 37 14 51467560 51467560 + Splice_Site SNP T T C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr14:51467560T>C uc001wyx.3 - 6 2072 c.1307_splice c.e6-1 p.A436_splice TRIM9_uc001wyy.2_Intron|TRIM9_uc001wyz.3_Splice_Site_p.A436_splice NM_015163 NP_055978 Q9C026 TRIM9_HUMAN tripartite motif protein 9 isoform 1 proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding skin(2)|lung(1) 3 all_epithelial(31;0.00418)|Breast(41;0.148) GAGAGGAAGCTAAACAGAAAT 0.473 NA 7 56 0 0 0.004482 0 0 FBXO34 55030 broad.mit.edu 37 14 55817174 55817174 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr14:55817174G>A uc001xbu.2 + 2 311 c.66G>A c.(64-66)ACG>ACA p.T22T FBXO34_uc001xbv.2_5'Flank|FBXO34_uc010aoo.2_Silent_p.T22T NM_017943 NP_060413 Q9NWN3 FBX34_HUMAN F-box only protein 34 22 ovary(2)|lung(2)|skin(1) 5 GCAGGGAAACGCAGAGAACTC 0.448 NA 6 64 0 0 0.001168 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68273273 68273273 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr14:68273273C>G uc001xka.2 - 6 1145 c.1006G>C c.(1006-1008)GAG>CAG p.E336Q ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.E336Q|ZFYVE26_uc010tta.1_Missense_Mutation_p.E336Q NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 336 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) AGAATCTGCTCGAGGAAGTGT 0.498 NA 15 31 0 0 0.00245 0 0 ESRRB 2103 broad.mit.edu 37 14 76906018 76906018 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr14:76906018G>T uc001xsq.1 + 2 389 c.322G>T c.(322-324)GAC>TAC p.D108Y ESRRB_uc001xsr.2_Missense_Mutation_p.D108Y|ESRRB_uc001xso.2_RNA NM_004452 NP_004443 A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 108 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.0213) CGTGTGCGGGGACATTGCCTC 0.617 NA 25 9 1.64293e-13 1.91245e-13 0.00333 1 0 ALKBH1 8846 broad.mit.edu 37 14 78161119 78161119 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr14:78161119C>G uc001xuc.1 - 3 426 c.417G>C c.(415-417)GAG>GAC p.E139D ALKBH1_uc001xud.1_Intron NM_006020 NP_006011 Q13686 ALKB1_HUMAN alkylated DNA repair protein alkB homolog 139 DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair mitochondrion DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(1)|skin(1) 2 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) GATCTTGGGTCTCTTCTTTAG 0.428 NA 38 165 0 0 0.007835 0 0 DIO2 1734 broad.mit.edu 37 14 80669079 80669079 + Nonsense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr14:80669079C>A uc010tvq.1 - 4 1177 c.775G>T c.(775-777)GAG>TAG p.E259* DIO2_uc010tvp.1_Nonsense_Mutation_p.E295*|DIO2_uc001xut.2_RNA|DIO2_uc010asx.2_3'UTR|DIO2_uc010tvr.1_Nonsense_Mutation_p.E259*|DIO2_uc010asy.2_3'UTR NM_000793 NP_000784 Q92813 IOD2_HUMAN deiodinase, iodothyronine, type II isoform a 259 hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.0281) AAATTCTTCTCCAGCCAATGC 0.398 NA 15 10 8.60227e-14 1.0031e-13 0.004007 1 0 BTBD7 55727 broad.mit.edu 37 14 93720129 93720129 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr14:93720129C>G uc001ybo.2 - 7 1942 c.1616G>C c.(1615-1617)AGA>ACA p.R539T BTBD7_uc010aur.2_Missense_Mutation_p.R64T|BTBD7_uc010two.1_Missense_Mutation_p.R359T|BTBD7_uc001ybp.2_Missense_Mutation_p.R188T NM_001002860 NP_001002860 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 isoform 1 539 pancreas(1) 1 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) AATCAAGCCTCTTTTCATCta 0.284 NA 8 41 0 0 0.00308 0 0 OTUD7A 161725 broad.mit.edu 37 15 31776389 31776389 + Missense_Mutation SNP T T A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr15:31776389T>A uc001zfq.2 - 11 1982 c.1889A>T c.(1888-1890)CAG>CTG p.Q630L OTUD7A_uc001zfr.2_Missense_Mutation_p.Q637L NM_130901 NP_570971 Q8TE49 OTU7A_HUMAN OTU domain containing 7A 630 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) GCGCTCCCCCTGCATGGCGGC 0.682 NA 4 10 0 0 0.009096 0 0 ARHGAP11A 9824 broad.mit.edu 37 15 32917434 32917434 + Silent SNP A A T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr15:32917434A>T uc001zgy.1 + 5 1427 c.705A>T c.(703-705)GCA>GCT p.A235A ARHGAP11A_uc010ubw.1_Silent_p.A46A|ARHGAP11A_uc001zgw.2_Silent_p.A235A|ARHGAP11A_uc001zgx.2_Silent_p.A235A|ARHGAP11A_uc010ubx.1_Silent_p.A46A NM_014783 NP_055598 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A isoform 1 235 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity skin(3)|breast(2)|urinary_tract(1) 6 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) TCGATTATGCATCAGATATTG 0.343 Colon(45;757 1134 30003 36652) NA 8 19 0 0 0.00308 0 0 RYR3 6263 broad.mit.edu 37 15 34018589 34018589 + Silent SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr15:34018589C>A uc001zhi.2 + 46 6985 c.6915C>A c.(6913-6915)CTC>CTA p.L2305L RYR3_uc010bar.2_Silent_p.L2305L NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2305 4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TCTTCCAGCTCATCCAGACAG 0.547 NA 6 12 0.00198382 0.00205467 0.001984 1 0 PLCB2 5330 broad.mit.edu 37 15 40589781 40589781 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr15:40589781C>G uc001zld.2 - 13 1565 c.1264G>C c.(1264-1266)GAG>CAG p.E422Q PLCB2_uc010bbo.2_Missense_Mutation_p.E422Q|PLCB2_uc010ucm.1_Missense_Mutation_p.E422Q NM_004573 NP_004564 Q00722 PLCB2_HUMAN phospholipase C, beta 2 422 PI-PLC X-box. activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(3)|breast(3)|kidney(1)|pancreas(1) 8 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) CGGCAATACTCAGCCATCTTA 0.577 NA 10 26 0 0 0.006214 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42434260 42434260 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr15:42434260C>T uc001zoz.2 - 20 2535 c.2472G>A c.(2470-2472)CTG>CTA p.L824L PLA2G4F_uc010bcq.2_Silent_p.L121L|PLA2G4F_uc001zoy.2_Silent_p.L456L|PLA2G4F_uc010bcr.2_Silent_p.L575L|PLA2G4F_uc001zpa.2_Silent_p.L575L|PLA2G4F_uc010bcs.2_Silent_p.L611L NM_213600 NP_998765 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 824 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity ovary(4) 4 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) CCACGTTGTTCAGGACGTTGT 0.597 NA 12 36 0 0 0.013537 0 0 TP53BP1 7158 broad.mit.edu 37 15 43701917 43701917 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr15:43701917G>C uc001zrs.2 - 25 5461 c.5313C>G c.(5311-5313)TTC>TTG p.F1771L TP53BP1_uc010udp.1_Missense_Mutation_p.F1769L|TP53BP1_uc001zrq.3_Missense_Mutation_p.F1774L|TP53BP1_uc001zrr.3_Missense_Mutation_p.F1776L|TP53BP1_uc001zrp.2_Missense_Mutation_p.F188L NM_005657 NP_005648 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 isoform 3 1771 BRCT 1. double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1) 7 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) ACTGCTTGTTGAAAGGAGGAA 0.363 NA Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes 4 11 0 0 0.009096 0 0 SLC12A1 6557 broad.mit.edu 37 15 48551426 48551426 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr15:48551426C>A uc001zwn.3 + 17 2288 c.2072C>A c.(2071-2073)CCC>CAC p.P691H SLC12A1_uc010uew.1_Missense_Mutation_p.P497H|SLC12A1_uc010bem.2_Missense_Mutation_p.P691H|SLC12A1_uc001zwq.3_Missense_Mutation_p.P462H|SLC12A1_uc001zwr.3_Missense_Mutation_p.P418H NM_000338 NP_000329 Q13621 S12A1_HUMAN sodium potassium chloride cotransporter 2 691 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) ACAGGGGGACCCATGACAAGA 0.493 NA 22 83 4.26978e-12 4.90179e-12 0.00333 1 0 SCG3 29106 broad.mit.edu 37 15 51975452 51975452 + Missense_Mutation SNP A A T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr15:51975452A>T uc002abh.2 + 4 626 c.218A>T c.(217-219)GAT>GTT p.D73V SCG3_uc010ufz.1_5'UTR NM_013243 NP_037375 Q8WXD2 SCG3_HUMAN secretogranin III isoform 1 precursor 73 platelet activation|platelet degranulation extracellular region|stored secretory granule ovary(1) 1 all cancers(107;0.00488) TCTTTTGTTGATAACTTGAAC 0.363 NA 65 102 0 0 0.01441 0 0 PARP6 56965 broad.mit.edu 37 15 72554009 72554009 + Silent SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr15:72554009C>G uc002auc.2 - 8 894 c.435G>C c.(433-435)CTG>CTC p.L145L PARP6_uc002aua.2_Silent_p.L10L|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA|PARP6_uc002auf.1_Silent_p.L145L NM_020214 NP_064599 Q2NL67 PARP6_HUMAN poly (ADP-ribose) polymerase family, member 6 145 NAD+ ADP-ribosyltransferase activity 0 AATCATTGCTCAGATGTTTCC 0.458 NA 51 224 0 0 0.01441 0 0 SIN3A 25942 broad.mit.edu 37 15 75687143 75687143 + Missense_Mutation SNP C C T rs151089140 TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr15:75687143C>T uc002bai.2 - 14 2414 c.2155G>A c.(2155-2157)GAA>AAA p.E719K SIN3A_uc002baj.2_Missense_Mutation_p.E719K|SIN3A_uc010uml.1_Missense_Mutation_p.E719K NM_015477 NP_056292 Q96ST3 SIN3A_HUMAN transcriptional co-repressor Sin3A 719 Interactions with HDAC1 and ARID4B.|Interaction with NCOR1 (By similarity). blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding skin(3)|ovary(1)|lung(1) 5 TCATTTTGTTCTCGCCATACT 0.438 NA 19 123 0 0 0.010504 0 0 CSPG4 1464 broad.mit.edu 37 15 75968709 75968709 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr15:75968709C>A uc002baw.2 - 10 6244 c.6151G>T c.(6151-6153)GCA>TCA p.A2051S NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 precursor 2051 Extracellular (Potential).|CSPG 15.|Cysteine-containing.|Neurite growth inhibition (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 GGCCCACCTGCCCACACATGC 0.647 NA 6 26 0.00116845 0.00121774 0.001168 1 0 ACSBG1 23205 broad.mit.edu 37 15 78526821 78526821 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr15:78526821C>T uc002bdh.2 - 1 79 c.23G>A c.(22-24)GGA>GAA p.G8E ACSBG1_uc010umw.1_Missense_Mutation_p.G8E|ACSBG1_uc010umx.1_5'UTR|ACSBG1_uc010umy.1_5'UTR NM_015162 NP_055977 Q96GR2 ACBG1_HUMAN lipidosin 8 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity ovary(1) 1 GCAGCCGTATCCAGCTCCAGA 0.597 NA 69 118 0 0 0.01441 0 0 CHRNB4 1143 broad.mit.edu 37 15 78921577 78921577 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr15:78921577G>T uc002bed.1 - 5 1182 c.1070C>A c.(1069-1071)GCC>GAC p.A357D CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.A175D NM_000750 NP_000741 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 357 Cytoplasmic (Potential). regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 GAAGGCTCTGGCCGGGCTGCT 0.637 NA 15 20 1.15088e-07 1.26464e-07 0.004007 1 0 AKAP13 11214 broad.mit.edu 37 15 86122855 86122855 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr15:86122855C>G uc002blv.1 + 7 1726 c.1556C>G c.(1555-1557)TCT>TGT p.S519C AKAP13_uc002blt.1_Missense_Mutation_p.S519C|AKAP13_uc002blu.1_Missense_Mutation_p.S519C NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 519 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 GCTGGAGCCTCTGACGTGCAC 0.483 Melanoma(94;603 1453 3280 32295 32951) NA 9 54 0 0 0.004482 0 0 PLIN1 5346 broad.mit.edu 37 15 90213226 90213226 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr15:90213226C>G uc010upx.1 - 5 693 c.583G>C c.(583-585)GAC>CAC p.D195H PLIN1_uc002boh.2_Missense_Mutation_p.D195H NM_001145311 NP_001138783 O60240 PLIN1_HUMAN perilipin 1 195 triglyceride catabolic process lipid particle lipid binding central_nervous_system(1)|skin(1) 2 TCTTCCTTGTCTGGAGGGAGG 0.602 NA 7 12 0 0 0.00308 0 0 ST8SIA2 8128 broad.mit.edu 37 15 93007521 93007521 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr15:93007521C>A uc002bra.2 + 6 1189 c.1034C>A c.(1033-1035)CCG>CAG p.P345Q ST8SIA2_uc002brb.2_Missense_Mutation_p.P324Q NM_006011 NP_006002 Q92186 SIA8B_HUMAN ST8 alpha-N-acetyl-neuraminide 345 Lumenal (Potential). axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity 0 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203) CAGGCCAGCCCGCATACCATG 0.572 NA 30 60 0.00209593 0.00216742 0.010818 1 0 RAB11FIP3 9727 broad.mit.edu 37 16 532599 532599 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr16:532599G>A uc002chf.2 + 4 1317 c.978G>A c.(976-978)GAG>GAA p.E326E RAB11FIP3_uc010uuf.1_Silent_p.E30E|RAB11FIP3_uc010uug.1_Silent_p.E16E NM_014700 NP_055515 O75154 RFIP3_HUMAN rab11-family interacting protein 3 isoform 1 326 cell cycle|cytokinesis|endocytic recycling|protein transport centrosome|cleavage furrow|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding 0 Hepatocellular(16;0.0218) TCACGGACGAGGACACCAGCA 0.652 Melanoma(160;2366 2595 4474 8099) NA 8 47 0 0 0.00308 0 0 CCNF 899 broad.mit.edu 37 16 2481210 2481210 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr16:2481210C>G uc002cqd.1 + 2 184 c.96C>G c.(94-96)ATC>ATG p.I32M CCNF_uc002cqe.1_Translation_Start_Site NM_001761 NP_001752 P41002 CCNF_HUMAN cyclin F 32 F-box. cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process centriole|nucleus|SCF ubiquitin ligase complex protein binding central_nervous_system(1)|kidney(1) 2 Ovarian(90;0.17) ACCTGACCATCTTGAGTCTCC 0.478 NA 11 81 0 0 0.010729 0 0 A2BP1 54715 broad.mit.edu 37 16 7645563 7645563 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr16:7645563G>A uc002cys.2 + 8 1469 c.481G>A c.(481-483)GTA>ATA p.V161I A2BP1_uc010buf.1_Missense_Mutation_p.V161I|A2BP1_uc002cyr.1_Missense_Mutation_p.V160I|A2BP1_uc002cyt.2_Missense_Mutation_p.V161I|A2BP1_uc010uxz.1_Missense_Mutation_p.V204I|A2BP1_uc010uya.1_Intron|A2BP1_uc002cyv.1_Missense_Mutation_p.V161I|A2BP1_uc010uyb.1_Missense_Mutation_p.V161I|A2BP1_uc002cyw.2_Missense_Mutation_p.V181I|A2BP1_uc002cyy.2_Missense_Mutation_p.V181I|A2BP1_uc002cyx.2_Missense_Mutation_p.V181I|A2BP1_uc010uyc.1_Missense_Mutation_p.V181I NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN ataxin 2-binding protein 1 isoform 4 161 RRM. mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding 0 all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211) Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499) ATTTGGTTTCGTAACTTTCGA 0.443 NA 30 163 0 0 0.010818 0 0 OTOA 146183 broad.mit.edu 37 16 21709155 21709155 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr16:21709155C>T uc002djh.2 + 9 800 c.799C>T c.(799-801)CAC>TAC p.H267Y uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.H188Y NM_144672 NP_653273 Q7RTW8 OTOAN_HUMAN otoancorin isoform 1 267 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(48;0.0414) ATACATGGTTCACCTATCGTT 0.313 NA 12 78 0 0 0.010729 0 0 KIAA0556 23247 broad.mit.edu 37 16 27772844 27772844 + Missense_Mutation SNP A A G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr16:27772844A>G uc002dow.2 + 19 3766 c.3742A>G c.(3742-3744)ATC>GTC p.I1248V NM_015202 NP_056017 O60303 K0556_HUMAN hypothetical protein LOC23247 1248 ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1) 8 CCTGCACCAGATCTCTGCTTC 0.577 NA 17 35 0 0 0.006122 0 0 APOB48R 55911 broad.mit.edu 37 16 28507384 28507384 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr16:28507384C>T uc002dqb.1 + 2 1032 c.1022C>T c.(1021-1023)TCA>TTA p.S341L uc010vct.1_Intron|APOB48R_uc010byg.1_5'UTR NM_018690 NP_061160 Q0VD83 APOBR_HUMAN apolipoprotein B48 receptor 341 Glu-rich. cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle 0 GGGATAGCCTCAGGCGGGGAG 0.721 NA 3 15 0 0 0.004672 0 0 TGFB1I1 7041 broad.mit.edu 37 16 31488304 31488304 + Silent SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr16:31488304C>G uc002ecd.1 + 10 1118 c.1092C>G c.(1090-1092)CTC>CTG p.L364L TGFB1I1_uc002ece.1_Silent_p.L347L|TGFB1I1_uc010caq.1_Silent_p.L203L NM_001042454 NP_001035919 O43294 TGFI1_HUMAN transforming growth factor beta 1 induced 364 LIM zinc-binding 3. androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway cytoplasm|cytoskeleton|focal adhesion|nuclear matrix androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding 0 TCAGCGCGCTCTGGCACCCGG 0.716 NA 3 8 0 0 0.004672 0 0 AHSP 51327 broad.mit.edu 37 16 31539514 31539514 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr16:31539514C>G uc002ecj.2 + 2 139 c.54C>G c.(52-54)TTC>TTG p.F18L NM_016633 NP_057717 Q9NZD4 AHSP_HUMAN erythroid associated factor 18 hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization hemoglobin complex hemoglobin binding|unfolded protein binding 0 TGAAGGAGTTCAGCGTTCTGC 0.498 NA 12 73 0 0 0.010729 0 0 AMFR 267 broad.mit.edu 37 16 56423102 56423102 + Missense_Mutation SNP A A C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr16:56423102A>C uc002eiy.2 - 9 1476 c.1271T>G c.(1270-1272)TTC>TGC p.F424C AMFR_uc002eix.2_Intron NM_001144 NP_001135 Q9UKV5 AMFR2_HUMAN autocrine motility factor receptor 424 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction protein binding|protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding breast(2) 2 CTAACCATCGAAATGGAAGAA 0.418 Pancreas(2;144 323 39528) NA 9 52 0 0 0.008291 0 0 C16orf57 79650 broad.mit.edu 37 16 58051280 58051280 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr16:58051280C>G uc002emz.2 + 5 629 c.546C>G c.(544-546)TTC>TTG p.F182L C16orf57_uc010vib.1_Missense_Mutation_p.F164L NM_024598 NP_078874 Q9BQ65 CP057_HUMAN hypothetical protein LOC79650 182 0 ATGCCCAGTTCCTGGACCTGG 0.522 NA 5 66 0 0 0.000602 0 0 CDH8 1006 broad.mit.edu 37 16 61761011 61761011 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr16:61761011C>A uc002eog.1 - 9 1775 c.1523G>T c.(1522-1524)GGA>GTA p.G508V CDH8_uc002eoh.2_Missense_Mutation_p.G277V NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 508 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) GCCGGGTTTTCCATTTTCACA 0.378 NA 34 66 3.21399e-22 3.9048e-22 0.004878 1 0 FHOD1 29109 broad.mit.edu 37 16 67281227 67281227 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr16:67281227G>C uc002esl.2 - 1 199 c.87C>G c.(85-87)TTC>TTG p.F29L FHOD1_uc010ced.2_5'UTR|FHOD1_uc010vjh.1_5'UTR|SLC9A5_uc002esm.2_5'Flank|SLC9A5_uc010cee.2_5'Flank|SLC9A5_uc010vji.1_5'Flank NM_013241 NP_037373 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 29 actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(2)|ovary(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) TGGCACATGCGAAGGGGTCGG 0.721 NA 15 18 0 0 0.00499 0 0 SF3B3 23450 broad.mit.edu 37 16 70566441 70566441 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr16:70566441C>G uc002ezf.2 + 5 841 c.630C>G c.(628-630)TTC>TTG p.F210L NM_012426 NP_036558 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3 210 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) CACTTACTTTCTATGAGCTAG 0.393 NA 10 92 0 0 0.008291 0 0 IRF8 3394 broad.mit.edu 37 16 85936694 85936695 + Missense_Mutation DNP GG GG TT TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr16:85936694_85936695GG>TT uc002fjh.2 + 2 130_131 c.73_74GG>TT c.(73-75)GGA>TTA p.G25L IRF8_uc002fji.2_Missense_Mutation_p.G25L NM_002163 NP_002154 Q02556 IRF8_HUMAN interferon regulatory factor 8 25 IRF tryptophan pentad repeat. interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(2)|ovary(1) 3 Prostate(104;0.0771) CATGTATCCAGGACTGATTTGG 0.49 NA 33 66 0 0 0.004672 0 0 ACSF3 197322 broad.mit.edu 37 16 89180750 89180750 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr16:89180750G>A uc002fmp.2 + 6 1321 c.981G>A c.(979-981)CTG>CTA p.L327L ACSF3_uc010cig.1_Silent_p.L327L|ACSF3_uc010cih.1_Silent_p.L62L|ACSF3_uc002fmq.1_Intron|ACSF3_uc010cii.1_RNA|ACSF3_uc002fmr.1_Silent_p.L62L NM_174917 NP_777577 Q4G176 ACSF3_HUMAN acyl-CoA synthetase family member 3 precursor 327 fatty acid metabolic process mitochondrion acid-thiol ligase activity|ATP binding 0 BRCA - Breast invasive adenocarcinoma(80;0.0281) CGCGTAGGCTGATGGTCTCAG 0.627 NA 16 51 0 0 0.00499 0 0 P2RX5 5026 broad.mit.edu 37 17 3592883 3592883 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:3592883G>A uc002fwi.2 - 7 940 c.656C>T c.(655-657)TCA>TTA p.S219L P2RX5_uc002fwd.2_RNA|P2RX5_uc002fwh.1_Missense_Mutation_p.S218L|P2RX5_uc010vrx.1_Missense_Mutation_p.S159L|P2RX5_uc002fwj.2_Missense_Mutation_p.S194L|P2RX5_uc002fwk.2_Missense_Mutation_p.S218L|P2RX5_uc002fwl.2_Missense_Mutation_p.S195L NM_002561 NP_002552 Q93086 P2RX5_HUMAN purinergic receptor P2X5 isoform A 219 Extracellular (Potential). nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity 0 AAAGTGGCATGATTTCAGGAA 0.567 NA 22 86 0 0 0.005443 0 0 ITGAE 3682 broad.mit.edu 37 17 3661042 3661042 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:3661042G>C uc002fwo.3 - 9 1077 c.978C>G c.(976-978)ATC>ATG p.I326M NM_002208 NP_002199 P38570 ITAE_HUMAN integrin, alpha E precursor 326 VWFA.|Extracellular (Potential). cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity large_intestine(2)|breast(1)|pancreas(1) 4 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) TGGGGGAGTTGATGACTGTCG 0.582 NSCLC(182;635 2928 8995 38788) NA 45 153 0 0 0.01441 0 0 GP1BA 2811 broad.mit.edu 37 17 4835987 4835987 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:4835987G>C uc010vsq.1 + 2 163 c.88G>C c.(88-90)GAA>CAA p.E30Q uc002fzn.1_RNA NM_000173 NP_000164 P07359 GP1BA_HUMAN platelet glycoprotein Ib alpha polypeptide 30 0 CAGCCACCTAGAAGTGAACTG 0.577 NA 22 92 0 0 0.00333 0 0 AIPL1 23746 broad.mit.edu 37 17 6329120 6329120 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:6329120C>G uc002gcp.2 - 6 910 c.815G>C c.(814-816)CGG>CCG p.R272P AIPL1_uc002gcq.2_Missense_Mutation_p.R212P|AIPL1_uc002gcr.2_Missense_Mutation_p.R209P|AIPL1_uc010clk.2_Missense_Mutation_p.R250P|AIPL1_uc010cll.2_Missense_Mutation_p.R248P|AIPL1_uc002gcs.2_3'UTR NM_014336 NP_055151 Q9NZN9 AIPL1_HUMAN aryl hydrocarbon receptor interacting 272 TPR 3. protein farnesylation|protein folding|visual perception cytoplasm|nucleus farnesylated protein binding|unfolded protein binding 0 COAD - Colon adenocarcinoma(228;0.141) TGCGTGAGCCCGGGCACGCAC 0.667 NA 4 19 0 0 0.000602 0 0 ACADVL 37 broad.mit.edu 37 17 7126511 7126511 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:7126511C>G uc002gev.2 + 11 1288 c.1137C>G c.(1135-1137)ATC>ATG p.I379M ACADVL_uc010vtp.1_Missense_Mutation_p.I389M|ACADVL_uc010vtq.1_3'UTR|ACADVL_uc002gew.2_Missense_Mutation_p.I357M|ACADVL_uc002gex.2_Missense_Mutation_p.I303M NM_000018 NP_000009 P49748 ACADV_HUMAN acyl-Coenzyme A dehydrogenase, very long chain 379 Catalytic. energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis mitochondrial inner membrane|mitochondrial nucleoid long-chain-acyl-CoA dehydrogenase activity ovary(3) 3 TTGGGCTGATCCAGGAGAAGC 0.557 NA 4 67 0 0 0.000602 0 0 CHD3 1107 broad.mit.edu 37 17 7794291 7794291 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:7794291C>G uc002gje.2 + 4 568 c.418C>G c.(418-420)CTG>GTG p.L140V CHD3_uc002gjd.2_Missense_Mutation_p.L199V|CHD3_uc002gjf.2_Missense_Mutation_p.L140V|CHD3_uc002gjg.1_5'UTR NM_001005273 NP_001005273 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 140 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(1) 1 Prostate(122;0.202) AACTCTGCTTCTGACCTGGGG 0.562 NA 27 91 0 0 0.009535 0 0 MYH13 8735 broad.mit.edu 37 17 10265786 10265786 + Missense_Mutation SNP A A T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:10265786A>T uc002gmk.1 - 4 329 c.239T>A c.(238-240)ATG>AAG p.M80K NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 80 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 GGGAGGGTTCATGGGGAAGAC 0.488 NA 23 87 0 0 0.005443 0 0 DNAH9 1770 broad.mit.edu 37 17 11757715 11757715 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:11757715G>T uc002gne.2 + 50 9971 c.9903G>T c.(9901-9903)GAG>GAT p.E3301D DNAH9_uc010coo.2_Missense_Mutation_p.E2595D NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 3301 Stalk (By similarity).|Potential. cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CTGCCCAGGAGAAGCTGGCTG 0.547 NA 14 18 6.72482e-11 7.64132e-11 0.003163 1 0 SLC47A1 55244 broad.mit.edu 37 17 19470431 19470431 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:19470431G>A uc002gvy.1 + 14 1285 c.1199G>A c.(1198-1200)AGG>AAG p.R400K SLC47A1_uc002gvx.2_Missense_Mutation_p.R400K|SLC47A1_uc010vyz.1_Missense_Mutation_p.R377K|SLC47A1_uc010cqp.1_Intron|SLC47A1_uc010cqq.1_Missense_Mutation_p.R205K|SLC47A1_uc010vza.1_Missense_Mutation_p.R112K|SLC47A1_uc010vzb.1_Missense_Mutation_p.R134K|SLC47A1_uc010vzc.1_Missense_Mutation_p.R72K NM_018242 NP_060712 Q96FL8 S47A1_HUMAN solute carrier family 47, member 1 400 Cytoplasmic (Potential). integral to membrane|plasma membrane drug:hydrogen antiporter activity 0 all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345) GGTGTTCTGAGGGGGAGTGGA 0.527 NA 8 196 0 0 0.004482 0 0 CYTSB 92521 broad.mit.edu 37 17 20108581 20108581 + Nonsense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:20108581G>T uc002gwq.2 + 4 1364 c.1219G>T c.(1219-1221)GAA>TAA p.E407* CYTSB_uc010cqx.2_Nonsense_Mutation_p.E407*|CYTSB_uc002gwr.2_Nonsense_Mutation_p.E407*|CYTSB_uc002gws.2_Nonsense_Mutation_p.E407*|CYTSB_uc002gwv.2_Nonsense_Mutation_p.E326*|CYTSB_uc010vzf.1_Intron|CYTSB_uc002gww.2_Nonsense_Mutation_p.E183*|CYTSB_uc002gwt.2_Nonsense_Mutation_p.E326*|CYTSB_uc002gwu.2_Nonsense_Mutation_p.E326* NM_001033553 NP_001028725 Q5M775 CYTSB_HUMAN spectrin domain with coiled-coils 1 NSP5b3b 407 nucleus 0 AATGGTACAGGAATTGACAGC 0.418 NA 14 53 0.00244969 0.00252933 0.00245 1 0 CYTSB 92521 broad.mit.edu 37 17 20108588 20108588 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:20108588C>T uc002gwq.2 + 4 1371 c.1226C>T c.(1225-1227)ACA>ATA p.T409I CYTSB_uc010cqx.2_Missense_Mutation_p.T409I|CYTSB_uc002gwr.2_Missense_Mutation_p.T409I|CYTSB_uc002gws.2_Missense_Mutation_p.T409I|CYTSB_uc002gwv.2_Missense_Mutation_p.T328I|CYTSB_uc010vzf.1_Intron|CYTSB_uc002gww.2_Missense_Mutation_p.T185I|CYTSB_uc002gwt.2_Missense_Mutation_p.T328I|CYTSB_uc002gwu.2_Missense_Mutation_p.T328I NM_001033553 NP_001028725 Q5M775 CYTSB_HUMAN spectrin domain with coiled-coils 1 NSP5b3b 409 nucleus 0 CAGGAATTGACAGCTGAAAAT 0.413 NA 14 54 0 0 0.00245 0 0 RHOT1 55288 broad.mit.edu 37 17 30526552 30526552 + Silent SNP A A G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:30526552A>G uc002hgz.2 + 13 1322 c.1083A>G c.(1081-1083)GGA>GGG p.G361G RHOT1_uc002hgw.2_Silent_p.G361G|RHOT1_uc002hgy.2_Silent_p.G361G|RHOT1_uc002hha.2_Silent_p.G234G|RHOT1_uc010csv.2_RNA|RHOT1_uc002hgx.2_Silent_p.G234G|RHOT1_uc010wby.1_Silent_p.G361G|RHOT1_uc002hhb.2_Silent_p.G340G|RHOT1_uc002hgv.2_Silent_p.G361G NM_018307 NP_060777 Q8IXI2 MIRO1_HUMAN ras homolog gene family, member T1 isoform 3 361 Mitochondrial intermembrane (Potential). apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane calcium ion binding|GTP binding|GTPase activity|protein binding ovary(3)|central_nervous_system(1) 4 Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182) CCTACCAGGGATTCCTTTCCC 0.378 NA 25 70 0 0 0.007291 0 0 MED1 5469 broad.mit.edu 37 17 37563895 37563895 + Missense_Mutation SNP T T C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:37563895T>C uc002hrv.3 - 17 4791 c.4579A>G c.(4579-4581)AGC>GGC p.S1527G MED1_uc010wee.1_Missense_Mutation_p.S1355G|MED1_uc002hru.2_Intron NM_004774 NP_004765 Q15648 MED1_HUMAN mediator complex subunit 1 1527 Lys-rich. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 8 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) GGCTTGATGCTATGAGATTTT 0.318 Pancreas(21;279 768 2492 4877 24026) NA HNSCC(31;0.082) 30 70 0 0 0.010818 0 0 TOP2A 7153 broad.mit.edu 37 17 38556186 38556186 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:38556186G>A uc002huq.2 - 24 3260 c.3134C>T c.(3133-3135)TCT>TTT p.S1045F NM_001067 NP_001058 P11388 TOP2A_HUMAN DNA topoisomerase II, alpha isozyme 1045 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) CAGTTTAGCAGATTCAGCACC 0.333 NA 4 31 0 0 0.009096 0 0 BRCA1 672 broad.mit.edu 37 17 41258529 41258529 + Silent SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:41258529G>T uc002icq.2 - 4 388 c.156C>A c.(154-156)CTC>CTA p.L52L BRCA1_uc010whp.1_Silent_p.L5L|BRCA1_uc010whl.1_Silent_p.L52L|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_5'UTR|BRCA1_uc002icu.2_Silent_p.L52L|BRCA1_uc010cyx.2_Silent_p.L5L|BRCA1_uc002ict.2_Silent_p.L52L|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_5'Flank|BRCA1_uc002idc.1_Silent_p.L52L|BRCA1_uc010whr.1_Silent_p.L5L|BRCA1_uc002idd.2_Silent_p.L52L|BRCA1_uc002ide.1_5'Flank|BRCA1_uc010cyy.1_Silent_p.L52L|BRCA1_uc010whs.1_Silent_p.L52L|BRCA1_uc010cyz.2_Silent_p.L5L|BRCA1_uc010cza.2_Intron|BRCA1_uc010wht.1_Intron NM_007294 NP_009225 P38398 BRCA1_HUMAN breast cancer 1, early onset isoform 1 52 RING-type. androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1) 52 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) TCTTCTGGTTGAGAAGTTTCA 0.323 NA D|Mis|N|F|S ovarian breast|ovarian Homologous_recombination Hereditary_Breast-Ovarian_Cancer_BRCA1_type TCGA Ovarian(2;0.000030) 5 46 2.0095e-06 2.17587e-06 0.001984 1 0 MPP3 4356 broad.mit.edu 37 17 41891569 41891569 + Silent SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:41891569C>G uc002iei.3 - 15 1336 c.1170G>C c.(1168-1170)CTG>CTC p.L390L MPP3_uc002ieh.2_Silent_p.L415L|MPP3_uc002iej.2_RNA NM_001932 NP_001923 Q13368 MPP3_HUMAN palmitoylated membrane protein 3 390 Guanylate kinase-like. signal transduction cell surface|integral to plasma membrane guanylate kinase activity large_intestine(1)|skin(1) 2 Breast(137;0.00394) BRCA - Breast invasive adenocarcinoma(366;0.119) ACCTACCGATCAGAACCACCA 0.612 NA 40 176 0 0 0.006999 0 0 NFE2L1 4779 broad.mit.edu 37 17 46128846 46128846 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:46128846C>T uc002imz.3 + 2 1017 c.366C>T c.(364-366)CTC>CTT p.L122L NFE2L1_uc002ina.3_Silent_p.L122L|NFE2L1_uc002inb.3_Silent_p.L122L|NFE2L1_uc002inc.1_Silent_p.L122L NM_003204 NP_003195 Q14494 NF2L1_HUMAN nuclear factor erythroid 2-like 1 122 anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity skin(1) 1 ACTCAGGCCTCGCCCTCGAGA 0.592 NA 6 116 0 0 0.001168 0 0 B4GALNT2 124872 broad.mit.edu 37 17 47241632 47241632 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:47241632G>A uc002ion.2 + 8 1188 c.1129G>A c.(1129-1131)GGG>AGG p.G377R B4GALNT2_uc010wlt.1_Missense_Mutation_p.G291R|B4GALNT2_uc010wlu.1_Missense_Mutation_p.G317R NM_153446 NP_703147 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 377 Lumenal (Potential). lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity large_intestine(1)|ovary(1) 2 all cancers(6;0.000316) TATGCCCTTTGGGAAGGTATG 0.532 GBM(124;244 1635 8663 18097 33175) NA 21 143 0 0 0.014323 0 0 ABCC3 8714 broad.mit.edu 37 17 48736659 48736659 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:48736659G>A uc002isl.2 + 7 816 c.736G>A c.(736-738)GAG>AAG p.E246K ABCC3_uc002isk.3_Missense_Mutation_p.E246K NM_003786 NP_003777 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C, member 3 246 Cytoplasmic (By similarity). bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity skin(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) CCTAAAGGAAGAGGACAGATC 0.642 NA 15 107 0 0 0.004007 0 0 ANKFN1 162282 broad.mit.edu 37 17 54534307 54534307 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:54534307G>A uc002iun.1 + 11 1337 c.1302G>A c.(1300-1302)GTG>GTA p.V434V NM_153228 NP_694960 Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain 434 large_intestine(1)|ovary(1) 2 ACAAGTTTGTGAAGACCTTAA 0.383 NA 4 48 0 0 0.001168 0 0 AKAP1 8165 broad.mit.edu 37 17 55194219 55194219 + Splice_Site SNP A A C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:55194219A>C uc002iux.2 + 8 2664 c.2433_splice c.e8-2 p.R811_splice AKAP1_uc010wnl.1_Splice_Site_p.R811_splice|AKAP1_uc010dcm.2_Splice_Site_p.R811_splice NM_003488 NP_003479 Q92667 AKAP1_HUMAN A-kinase anchor protein 1 precursor blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding ovary(1) 1 Breast(9;5.46e-08) TTGCCTTCCCAGGTCTGACTT 0.517 NA 20 124 0 0 0.010504 0 0 EPX 8288 broad.mit.edu 37 17 56277623 56277623 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:56277623C>T uc002ivq.2 + 10 1661 c.1575C>T c.(1573-1575)ACC>ACT p.T525T NM_000502 NP_000493 P11678 PERE_HUMAN eosinophil peroxidase preproprotein 525 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding ovary(2) 2 TCATGGCCACCCCTGCCAAGC 0.612 NA OREG0024608 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 49 55 0 0 0.01441 0 0 INTS2 57508 broad.mit.edu 37 17 59958421 59958421 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:59958421C>T uc002izn.2 - 17 2301 c.2225G>A c.(2224-2226)CGA>CAA p.R742Q INTS2_uc002izm.2_Missense_Mutation_p.R734Q NM_020748 NP_065799 Q9H0H0 INT2_HUMAN integrator complex subunit 2 742 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding ovary(1)|lung(1)|pancreas(1) 3 CAGGAGCATTCGCCGTAGCAG 0.398 NA 15 87 0 0 0.003163 0 0 ABCA6 23460 broad.mit.edu 37 17 67129836 67129836 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:67129836C>G uc002jhw.1 - 6 912 c.737G>C c.(736-738)AGA>ACA p.R246T NM_080284 NP_525023 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A, member 6 246 transport integral to membrane ATP binding|ATPase activity upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1) 7 Breast(10;5.65e-12) AGACTTTTTTCTCTCTTTTGT 0.294 NA 7 76 0 0 0.00308 0 0 CD300E 342510 broad.mit.edu 37 17 72613371 72613371 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:72613371G>T uc002jlb.1 - 2 315 c.274C>A c.(274-276)CAG>AAG p.Q92K NM_181449 NP_852114 Q496F6 CLM2_HUMAN CD300e molecule precursor 92 Ig-like V-type.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity skin(2)|large_intestine(1)|ovary(1) 4 TTGAGGTTCTGCATGGTCACA 0.542 NA 21 150 5.35356e-11 6.10397e-11 0.00278 1 0 SEPT9 10801 broad.mit.edu 37 17 75478401 75478401 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:75478401C>G uc002jts.3 + 4 1023 c.897C>G c.(895-897)TTC>TTG p.F299L SEPT9_uc010wtk.1_Missense_Mutation_p.F280L|SEPT9_uc002jtt.3_Missense_Mutation_p.F135L|SEPT9_uc002jtu.3_Missense_Mutation_p.F281L|SEPT9_uc002jtv.2_Missense_Mutation_p.F292L|SEPT9_uc002jtw.2_Missense_Mutation_p.F135L|SEPT9_uc002jtx.1_Missense_Mutation_p.F135L|SEPT9_uc010wtl.1_Missense_Mutation_p.F75L|SEPT9_uc002jty.3_Missense_Mutation_p.F48L|SEPT9_uc010wtm.1_Missense_Mutation_p.F48L|SEPT9_uc010wtn.1_Missense_Mutation_p.F48L|SEPT9_uc010dhd.2_Missense_Mutation_p.F187L NM_001113491 NP_001106963 Q9UHD8 SEPT9_HUMAN septin 9 isoform a 299 cell cycle|cell division|protein heterooligomerization microtubule|perinuclear region of cytoplasm|stress fiber GTP binding|GTPase activity|protein binding|protein binding breast(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(99;0.153) GCTTCGAGTTCAACATCATGG 0.612 NA 5 48 0 0 0.001168 0 0 ENGASE 64772 broad.mit.edu 37 17 77082418 77082418 + Nonsense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:77082418C>G uc002jwv.2 + 14 2227 c.2219C>G c.(2218-2220)TCA>TGA p.S740* ENGASE_uc002jww.2_Nonsense_Mutation_p.S445* NM_001042573 NP_001036038 Q8NFI3 ENASE_HUMAN endo-beta-N-acetylglucosaminidase 740 cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity skin(1) 1 CTGCTTTATTCAGCCCCTGCA 0.652 NA 7 59 0 0 0.001984 0 0 ACTG1 71 broad.mit.edu 37 17 79478006 79478006 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:79478006C>T uc002kaj.1 - 4 956 c.931G>A c.(931-933)GAC>AAC p.D311N ACTG1_uc002kah.1_Missense_Mutation_p.D189N|ACTG1_uc002kai.1_Missense_Mutation_p.D268N|ACTG1_uc002kak.1_Missense_Mutation_p.D311N|ACTG1_uc010wun.1_Missense_Mutation_p.D311N|ACTG1_uc002kal.1_Missense_Mutation_p.D311N|ACTG1_uc002kag.2_RNA NM_001614 NP_001605 P63261 ACTG_HUMAN actin, gamma 1 propeptide 311 adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol ATP binding|identical protein binding ovary(1)|central_nervous_system(1) 2 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547) TGCATCCTGTCGGCAATGCCC 0.612 NA 15 85 0 0 0.003163 0 0 LAMA1 284217 broad.mit.edu 37 18 7044805 7044805 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr18:7044805C>A uc002knm.2 - 7 986 c.892G>T c.(892-894)GGG>TGG p.G298W LAMA1_uc010wzj.1_5'UTR NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 298 Laminin EGF-like 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAGCTCTCCCCGCAAGTATTA 0.448 NA 43 106 9.58827e-17 1.14e-16 0.01441 1 0 PPP4R1 9989 broad.mit.edu 37 18 9570248 9570248 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr18:9570248G>A uc002koe.1 - 11 1598 c.1480C>T c.(1480-1482)CCC>TCC p.P494S PPP4R1_uc002kof.2_5'UTR|PPP4R1_uc010wzo.1_Missense_Mutation_p.P340S|PPP4R1_uc002kod.1_Missense_Mutation_p.P477S|PPP4R1_uc010wzp.1_RNA NM_001042388 NP_001035847 Q8TF05 PP4R1_HUMAN protein phosphatase 4, regulatory subunit 1 494 protein phosphorylation|signal transduction protein phosphatase 4 complex protein binding|protein phosphatase type 4 regulator activity skin(1) 1 GGAGAACTGGGCACAGGGCCC 0.478 Melanoma(188;1232 2082 5061 11948 35994) NA 25 41 0 0 0.00278 0 0 TXNDC2 84203 broad.mit.edu 37 18 9888081 9888081 + Silent SNP T T C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr18:9888081T>C uc002koi.3 + 2 2054 c.1605T>C c.(1603-1605)GAT>GAC p.D535D TXNDC2_uc010wzq.1_RNA|TXNDC2_uc002koh.3_Silent_p.D468D NM_001098529 NP_001091999 Q86VQ3 TXND2_HUMAN thioredoxin domain-containing 2 isoform 2 535 Thioredoxin. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity ovary(1)|pancreas(1) 2 AAAAGGTGGATGAACTTTGCG 0.433 NA 11 27 0 0 0.001855 0 0 CABYR 26256 broad.mit.edu 37 18 21735667 21735667 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr18:21735667G>A uc002kux.2 + 4 354 c.202G>A c.(202-204)GAG>AAG p.E68K CABYR_uc010xbb.1_5'UTR|CABYR_uc002kuy.2_Missense_Mutation_p.E68K|CABYR_uc002kuz.2_Missense_Mutation_p.E68K|CABYR_uc002kva.2_Missense_Mutation_p.E50K|CABYR_uc002kvb.2_5'UTR|CABYR_uc002kvc.2_Missense_Mutation_p.E68K|CABYR_uc010dlw.2_RNA NM_012189 NP_036321 O75952 CABYR_HUMAN calcium-binding tyrosine 68 ciliary or flagellar motility|signal transduction|sperm capacitation cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding 0 all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17) TTTTTCAGTAGAGAAATGGTC 0.294 NA 12 35 0 0 0.013537 0 0 NOL4 8715 broad.mit.edu 37 18 31599332 31599332 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr18:31599332G>A uc010dmi.2 - 6 1235 c.1006C>T c.(1006-1008)CTA>TTA p.L336L NOL4_uc010xbs.1_Silent_p.L51L|NOL4_uc002kxr.3_Silent_p.L172L|NOL4_uc010xbt.1_Silent_p.L262L|NOL4_uc010dmh.2_Silent_p.L262L|NOL4_uc010xbu.1_Silent_p.L336L|NOL4_uc002kxt.3_Silent_p.L336L|NOL4_uc010xbv.1_Silent_p.L85L|NOL4_uc010xbw.1_Silent_p.L222L NM_003787 NP_003778 O94818 NOL4_HUMAN nucleolar protein 4 336 nucleolus RNA binding ovary(3) 3 TCAGAAATTAGAAGATTCTTA 0.413 NA 13 33 0 0 0.00245 0 0 FHOD3 80206 broad.mit.edu 37 18 34273246 34273246 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr18:34273246G>C uc002kzt.1 + 13 1617 c.1520G>C c.(1519-1521)AGA>ACA p.R507T FHOD3_uc002kzr.1_Missense_Mutation_p.R507T|FHOD3_uc002kzs.1_Missense_Mutation_p.R524T|FHOD3_uc010dmz.1_Missense_Mutation_p.R239T|FHOD3_uc010dna.1_5'UTR NM_025135 NP_079411 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 507 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding skin(3)|large_intestine(2)|breast(2)|ovary(1) 8 all_epithelial(2;0.0181)|Colorectal(2;0.0195) AGCCGGGGCAGAGCCGACCTC 0.567 NA 4 23 0 0 0.000602 0 0 NETO1 81832 broad.mit.edu 37 18 70451117 70451117 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr18:70451117C>T uc002lkw.2 - 7 948 c.664G>A c.(664-666)GAG>AAG p.E222K NETO1_uc002lkx.1_Missense_Mutation_p.E221K|NETO1_uc002lky.1_Missense_Mutation_p.E222K NM_138966 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin- and tolloid-like protein 1 isoform 3 222 CUB 2.|Extracellular (Potential). memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity ovary(2)|skin(2) 4 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) TTCTGCATCTCATAGTCCAAG 0.348 NA 23 79 0 0 0.012319 0 0 SPPL2B 56928 broad.mit.edu 37 19 2337592 2337592 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:2337592C>T uc002lvs.2 + 3 417 c.337C>T c.(337-339)CGC>TGC p.R113C SPPL2B_uc010dsw.1_Missense_Mutation_p.R85C|SPPL2B_uc010dsy.1_Missense_Mutation_p.R85C|SPPL2B_uc010dsz.1_Missense_Mutation_p.R113C|SPPL2B_uc002lvr.2_Missense_Mutation_p.R113C|SPPL2B_uc010dta.1_5'Flank|SPPL2B_uc002lvu.2_5'Flank NM_152988 NP_694533 Q8TCT7 PSL1_HUMAN signal peptide peptidase-like 2B isoform 2 113 Cytoplasmic (Potential).|PA. Golgi membrane|integral to membrane aspartic-type endopeptidase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAGCGGAGCACGCGGGCTGCT 0.692 NA 7 16 0 0 0.001984 0 0 SPPL2B 56928 broad.mit.edu 37 19 2337594 2337594 + Silent SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:2337594C>G uc002lvs.2 + 3 419 c.339C>G c.(337-339)CGC>CGG p.R113R SPPL2B_uc010dsw.1_Silent_p.R85R|SPPL2B_uc010dsy.1_Silent_p.R85R|SPPL2B_uc010dsz.1_Silent_p.R113R|SPPL2B_uc002lvr.2_Silent_p.R113R|SPPL2B_uc010dta.1_5'Flank|SPPL2B_uc002lvu.2_5'Flank NM_152988 NP_694533 Q8TCT7 PSL1_HUMAN signal peptide peptidase-like 2B isoform 2 113 Cytoplasmic (Potential).|PA. Golgi membrane|integral to membrane aspartic-type endopeptidase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCGGAGCACGCGGGCTGCTCA 0.692 NA 7 15 0 0 0.001984 0 0 STAP2 55620 broad.mit.edu 37 19 4325283 4325283 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:4325283G>A uc002mab.2 - 11 1099 c.1002C>T c.(1000-1002)GTC>GTT p.V334V STAP2_uc002mac.2_Silent_p.V334V|STAP2_uc002mad.2_Silent_p.V227V NM_001013841 NP_001013863 Q9UGK3 STAP2_HUMAN signal transducing adaptor family member 2 334 Pro-rich. cytoplasm|nucleus protein binding central_nervous_system(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) GCTTCAGGATGACTGGCCAAC 0.562 NA 8 8 0 0 0.00308 0 0 PLIN5 440503 broad.mit.edu 37 19 4523664 4523664 + Missense_Mutation SNP T T G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:4523664T>G uc002mas.2 - 8 1321 c.1268A>C c.(1267-1269)CAC>CCC p.H423P NM_001013706 NP_001013728 Q00G26 PLIN5_HUMAN lipid storage droplet protein 5 423 lipid particle 0 CCCGTCCCTGTGCTCTGCCTC 0.706 NA OREG0025168 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 105 0 0 0.006999 0 0 LRRC8E 80131 broad.mit.edu 37 19 7964676 7964676 + Silent SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:7964676C>G uc002mir.2 + 3 1370 c.1269C>G c.(1267-1269)CTC>CTG p.L423L NM_025061 NP_079337 Q6NSJ5 LRC8E_HUMAN leucine rich repeat containing 8 family, member 423 integral to membrane lung(1)|pancreas(1) 2 AGCTGGCCCTCTGCATGCTGC 0.627 NA 5 32 0 0 0.001168 0 0 MUC16 94025 broad.mit.edu 37 19 9058315 9058315 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:9058315C>T uc002mkp.2 - 3 29335 c.29131G>A c.(29131-29133)GAA>AAA p.E9711K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 9713 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 GACAGACTTTCAGGACCCCTG 0.488 NA 7 26 0 0 0.00308 0 0 MUC16 94025 broad.mit.edu 37 19 9064992 9064992 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:9064992G>T uc002mkp.2 - 3 22658 c.22454C>A c.(22453-22455)TCC>TAC p.S7485Y NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 7487 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 TCCAGAACTGGAAGTTCCAAC 0.478 NA 23 52 7.87624e-14 9.21659e-14 0.00278 1 0 OR7D4 125958 broad.mit.edu 37 19 9324997 9324997 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:9324997C>T uc002mla.1 - 1 517 c.517G>A c.(517-519)GAG>AAG p.E173K NM_001005191 NP_001005191 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, 173 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E173K(1) ovary(2)|central_nervous_system(1)|skin(1) 4 TGCGGAATCTCAGTGCCTGTG 0.507 NA 15 58 0 0 0.003163 0 0 ZNF562 54811 broad.mit.edu 37 19 9763741 9763741 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:9763741G>C uc010xks.1 - 6 1328 c.1165C>G c.(1165-1167)CAA>GAA p.Q389E ZNF562_uc002mly.2_Missense_Mutation_p.Q389E|ZNF562_uc002mlx.2_Missense_Mutation_p.Q317E|ZNF562_uc010xkt.1_Missense_Mutation_p.Q352E|ZNF562_uc010xku.1_Missense_Mutation_p.Q320E|ZNF562_uc010xkv.1_Missense_Mutation_p.Q388E|ZNF562_uc010xkw.1_Missense_Mutation_p.Q273E NM_001130032 NP_001123504 Q6V9R5 ZN562_HUMAN zinc finger protein 562 isoform a 389 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CTTCTATGTTGAGTAAGCGTT 0.408 NA 13 45 0 0 0.013537 0 0 ZNF846 162993 broad.mit.edu 37 19 9872820 9872820 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:9872820C>A uc002mmb.1 - 4 698 c.167G>T c.(166-168)AGT>ATT p.S56I ZNF846_uc010xky.1_RNA|ZNF846_uc010xkz.1_RNA|ZNF846_uc010dww.2_Intron|ZNF846_uc002mmc.1_5'UTR NM_001077624 NP_001071092 Q147U1 ZN846_HUMAN zinc finger protein 846 56 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AGACATGAGACTACGTTTGAA 0.458 NA 22 78 6.44725e-10 7.2518e-10 0.014323 1 0 ICAM5 7087 broad.mit.edu 37 19 10406060 10406060 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:10406060G>A uc002mnu.3 + 10 2334 c.2269G>A c.(2269-2271)GGA>AGA p.G757R ICAM5_uc002mnv.3_Missense_Mutation_p.G632R NM_003259 NP_003250 Q9UMF0 ICAM5_HUMAN intercellular adhesion molecule 5 precursor 757 Extracellular (Potential).|Ig-like C2-type 9. cell-cell adhesion integral to plasma membrane breast(3) 3 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) CTCGCCCCCTGGAGGCGTGCG 0.582 NA 5 18 0 0 0.001168 0 0 ICAM5 7087 broad.mit.edu 37 19 10406079 10406079 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:10406079G>A uc002mnu.3 + 10 2353 c.2288G>A c.(2287-2289)GGA>GAA p.G763E ICAM5_uc002mnv.3_Missense_Mutation_p.G638E NM_003259 NP_003250 Q9UMF0 ICAM5_HUMAN intercellular adhesion molecule 5 precursor 763 Extracellular (Potential).|Ig-like C2-type 9. cell-cell adhesion integral to plasma membrane breast(3) 3 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) CGCCCAGGAGGAAACTTCACG 0.592 NA 4 15 0 0 0.009096 0 0 PDE4A 5141 broad.mit.edu 37 19 10570163 10570163 + Missense_Mutation SNP A A G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:10570163A>G uc002moj.2 + 9 1297 c.1189A>G c.(1189-1191)ATG>GTG p.M397V PDE4A_uc002mok.2_Missense_Mutation_p.M371V|PDE4A_uc002mol.2_Missense_Mutation_p.M336V|PDE4A_uc002mom.2_Missense_Mutation_p.M158V|PDE4A_uc002mon.2_Intron|PDE4A_uc002moo.2_Missense_Mutation_p.M63V NM_001111307 NP_001104777 P27815 PDE4A_HUMAN phosphodiesterase 4A isoform 1 397 Catalytic. signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) CATCATGTACATGATATTCCA 0.622 NA 6 20 0 0 0.001984 0 0 CNN1 1264 broad.mit.edu 37 19 11657493 11657493 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:11657493C>T uc002msc.1 + 3 353 c.189C>T c.(187-189)TTC>TTT p.F63F CNN1_uc010xmb.1_Silent_p.F13F|CNN1_uc010xmc.1_Silent_p.F13F NM_001299 NP_001290 P51911 CNN1_HUMAN calponin 1, basic, smooth muscle 63 CH. actomyosin structure organization|regulation of smooth muscle contraction cytoskeleton actin binding|calmodulin binding 0 TTCTCAGATTCATCAATAAGC 0.378 NA 14 52 0 0 0.003163 0 0 ZNF709 163051 broad.mit.edu 37 19 12575365 12575365 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:12575365G>A uc002mtv.3 - 4 1532 c.1371C>T c.(1369-1371)TTC>TTT p.F457F ZNF709_uc002mtw.3_Silent_p.F425F|ZNF709_uc002mtx.3_Silent_p.F457F NM_152601 NP_689814 Q8N972 ZN709_HUMAN zinc finger protein 709 isoform a 457 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGGAACAACTGAAGGCTTTAC 0.398 GBM(33;565 669 12371 29134 51667) NA 25 86 0 0 0.007291 0 0 ZNF709 163051 broad.mit.edu 37 19 12575934 12575934 + Nonsense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:12575934G>A uc002mtv.3 - 4 963 c.802C>T c.(802-804)CAA>TAA p.Q268* ZNF709_uc002mtw.3_Nonsense_Mutation_p.Q236*|ZNF709_uc002mtx.3_Nonsense_Mutation_p.Q268* NM_152601 NP_689814 Q8N972 ZN709_HUMAN zinc finger protein 709 isoform a 268 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TCATGTATTTGAAAAGTTTGG 0.383 GBM(33;565 669 12371 29134 51667) NA 9 27 0 0 0.004482 0 0 IER2 9592 broad.mit.edu 37 19 13264100 13264100 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:13264100C>T uc002mwr.2 + 2 428 c.100C>T c.(100-102)CTG>TTG p.L34L NM_004907 NP_004898 Q9BTL4 IER2_HUMAN immediate early response 2 34 kidney(1) 1 OV - Ovarian serous cystadenocarcinoma(19;3.41e-21) GCACCGGAGTCTGCAGCTGTC 0.667 NA OREG0025291 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 9 0 0 0.001168 0 0 CLEC17A 388512 broad.mit.edu 37 19 14707757 14707757 + Missense_Mutation SNP A A G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:14707757A>G uc010dzn.1 + 9 592 c.515A>G c.(514-516)TAC>TGC p.Y172C CLEC17A_uc002mzh.1_Missense_Mutation_p.Y155C|CLEC17A_uc010xnt.1_RNA|CLEC17A_uc010xnu.1_Missense_Mutation_p.Y172C|CLEC17A_uc010dzo.1_Missense_Mutation_p.Y172C Q6ZS10 CL17A_HUMAN SubName: Full=CLEC17A protein; 172 Cytoplasmic (Potential). cell surface|integral to membrane fucose binding|mannose binding|metal ion binding|receptor activity 0 TGGATGGTGTACCTGTGTCTG 0.587 NA 4 10 0 0 0.009096 0 0 EMR2 30817 broad.mit.edu 37 19 14876338 14876338 + Nonsense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:14876338G>A uc002mzp.1 - 9 1282 c.826C>T c.(826-828)CAG>TAG p.Q276* EMR2_uc010dzs.1_5'UTR|EMR2_uc010xnw.1_Nonsense_Mutation_p.Q276*|EMR2_uc002mzo.1_Nonsense_Mutation_p.Q276*|EMR2_uc002mzq.1_Nonsense_Mutation_p.Q227*|EMR2_uc002mzr.1_Nonsense_Mutation_p.Q227*|EMR2_uc002mzs.1_Nonsense_Mutation_p.Q134*|EMR2_uc002mzt.1_Nonsense_Mutation_p.Q183*|EMR2_uc002mzu.1_Nonsense_Mutation_p.Q183*|EMR2_uc010xnx.1_RNA|EMR2_uc010xny.1_RNA NM_013447 NP_038475 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone 276 Extracellular (Potential). cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity lung(2)|ovary(1)|skin(1) 4 CCACTCACCTGGCTGTGGACT 0.612 NA 4 22 0 0 0.001168 0 0 OR7C2 26658 broad.mit.edu 37 19 15052879 15052879 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:15052879C>A uc010xoc.1 + 1 579 c.579C>A c.(577-579)TTC>TTA p.F193L NM_012377 NP_036509 O60412 OR7C2_HUMAN olfactory receptor, family 7, subfamily C, 193 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Ovarian(108;0.203) CTGACACCTTCATCAATAACA 0.428 NA 21 53 2.4624e-09 2.75574e-09 0.008871 1 0 LOC284441 284441 broad.mit.edu 37 19 20369855 20369855 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:20369855C>G uc002nov.2 + 1 1399 c.648C>G c.(646-648)ATC>ATG p.I216M NR_003128 SubName: Full=cDNA FLJ51655, highly similar to Actin-like protein 2; 0 CTCACTTGATCAATGTTGAAG 0.398 NA 7 19 0 0 0.001984 0 0 ZNF737 100129842 broad.mit.edu 37 19 20727915 20727915 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:20727915C>T uc002npa.2 - 4 1274 c.1094G>A c.(1093-1095)GGA>GAA p.G365E NM_001159293 NP_001152765 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 365 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 GGGTTTCTCTCCACTATGAAT 0.393 NA 11 35 0 0 0.010729 0 0 ZFP30 22835 broad.mit.edu 37 19 38135626 38135626 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:38135626C>T uc002ogv.1 - 4 537 c.21G>A c.(19-21)ATG>ATA p.M7I ZFP30_uc002ogw.1_Missense_Mutation_p.M7I|ZFP30_uc002ogx.1_Missense_Mutation_p.M7I|ZFP30_uc010xtt.1_Missense_Mutation_p.M7I NM_014898 NP_055713 Q9Y2G7 ZFP30_HUMAN zinc finger protein 30 homolog 7 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CATCTCTGAACATCACCAAAT 0.303 NA 10 41 0 0 0.010729 0 0 RYR1 6261 broad.mit.edu 37 19 39001185 39001185 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:39001185G>C uc002oit.2 + 59 9110 c.8980G>C c.(8980-8982)GAG>CAG p.E2994Q RYR1_uc002oiu.2_Missense_Mutation_p.E2994Q|RYR1_uc002oiv.1_5'UTR|RYR1_uc010xuf.1_5'Flank NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 2994 Cytoplasmic. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) ACATGAACAGGAGATTAAATT 0.567 NA 21 73 0 0 0.010504 0 0 PSG2 5670 broad.mit.edu 37 19 43579684 43579684 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:43579684G>T uc002ovr.2 - 3 624 c.531C>A c.(529-531)AGC>AGA p.S177R PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Missense_Mutation_p.S177R|PSG2_uc010eiq.1_Missense_Mutation_p.S177R|PSG2_uc002ovs.3_Missense_Mutation_p.S177R|PSG2_uc002ovt.3_Missense_Mutation_p.S177R NM_031246 NP_112536 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 177 Ig-like C2-type 1. cell migration|female pregnancy extracellular region 0 Prostate(69;0.00682) ACCACTGGTAGCTTGTGTCCG 0.502 NA 59 224 7.41606e-26 9.1772e-26 0.01441 1 0 ZNF223 7766 broad.mit.edu 37 19 44570525 44570526 + Missense_Mutation DNP GG GG TT TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:44570525_44570526GG>TT uc002oyf.1 + 5 797_798 c.544_545GG>TT c.(544-546)GGA>TTA p.G182L ZNF284_uc010ejd.2_RNA NM_013361 NP_037493 Q9UK11 ZN223_HUMAN zinc finger protein 223 182 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(69;0.0352) TGATGAGTGTGGAAAAAGCTTC 0.431 NA 44 117 0 0 0.004672 0 0 ZFP112 7771 broad.mit.edu 37 19 44833574 44833574 + Nonsense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:44833574G>A uc010ejj.2 - 5 867 c.754C>T c.(754-756)CAA>TAA p.Q252* ZFP112_uc002ozc.3_Nonsense_Mutation_p.Q246*|ZFP112_uc010xwy.1_Nonsense_Mutation_p.Q269*|ZFP112_uc010xwz.1_Nonsense_Mutation_p.Q251* NM_001083335 NP_001076804 Q9UJU3 ZF112_HUMAN zinc finger protein 228 isoform 1 252 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2) 5 TCCTCTGTTTGAATTGACTCC 0.423 Melanoma(53;975 1202 7512 15993 27273) NA 19 63 0 0 0.007413 0 0 CLPTM1 1209 broad.mit.edu 37 19 45493695 45493695 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:45493695C>G uc002pai.2 + 10 1190 c.1175C>G c.(1174-1176)TCC>TGC p.S392C CLPTM1_uc010xxf.1_Missense_Mutation_p.S290C|CLPTM1_uc010xxg.1_Missense_Mutation_p.S378C NM_001294 NP_001285 O96005 CLPT1_HUMAN cleft lip and palate associated transmembrane 392 Helical; (Potential). cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane ovary(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) GAGGGCCTGTCCGTGCGCTCC 0.597 NA 38 157 0 0 0.007835 0 0 CD3EAP 10849 broad.mit.edu 37 19 45912504 45912504 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:45912504G>C uc002pbq.1 + 3 1766 c.1278G>C c.(1276-1278)AAG>AAC p.K426N PPP1R13L_uc002pbo.2_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbr.1_Missense_Mutation_p.K428N NM_012099 NP_036231 O15446 RPA34_HUMAN CD3E antigen, epsilon polypeptide associated 426 Poly-Lys. rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway chromosome|RNA polymerase I transcription factor complex DNA-directed RNA polymerase activity large_intestine(2)|ovary(2) 4 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0251) agaagaagaagaagaaagaga 0.537 NA 13 27 0 0 0.013537 0 0 EML2 24139 broad.mit.edu 37 19 46124873 46124873 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:46124873C>T uc002pcn.2 - 10 899 c.864G>A c.(862-864)GCG>GCA p.A288A EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Silent_p.A172A|EML2_uc010xxl.1_Silent_p.A435A|EML2_uc010xxm.1_Silent_p.A489A|EML2_uc010xxn.1_RNA|EML2_uc010xxo.1_Silent_p.A288A|EML2_uc010ekj.2_Missense_Mutation_p.R255Q NM_012155 NP_036287 O95834 EMAL2_HUMAN echinoderm microtubule associated protein like 288 WD 4. sensory perception of sound|visual perception cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex catalytic activity|protein binding large_intestine(1)|ovary(1) 2 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197) CGCCCAGCACCGCCTGTGTGA 0.672 NA 4 29 0 0 0.001168 0 0 PIH1D1 55011 broad.mit.edu 37 19 49950617 49950617 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:49950617C>T uc002pns.2 - 6 873 c.589G>A c.(589-591)GCC>ACC p.A197T NM_017916 NP_060386 Q9NWS0 PIHD1_HUMAN NOP17 197 box C/D snoRNP assembly pre-snoRNP complex 0 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244) CTCCCGGGGGCGGGCGTGTAC 0.627 NA 14 59 0 0 0.004007 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50453287 50453287 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:50453287C>T uc010ybh.1 - 11 2128 c.2037G>A c.(2035-2037)CTG>CTA p.L679L SIGLEC11_uc010ybi.1_Silent_p.L583L NM_052884 NP_443116 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 isoform 1 679 Cytoplasmic (Potential). cell adhesion integral to membrane sugar binding ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) CTGGGCCCCTCAGGGGCTGTC 0.612 NA 6 19 0 0 0.001168 0 0 ZNF610 162963 broad.mit.edu 37 19 52869486 52869486 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:52869486G>T uc002pyx.3 + 6 1261 c.855G>T c.(853-855)GAG>GAT p.E285D ZNF610_uc002pyy.3_Missense_Mutation_p.E285D|ZNF610_uc002pyz.3_Missense_Mutation_p.E242D|ZNF610_uc002pza.2_Missense_Mutation_p.E285D NM_001161426 NP_001154898 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 isoform a 285 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) ATACTGGAGAGAAGCCTCACA 0.393 NA 11 35 2.80697e-09 3.13086e-09 0.010729 1 0 KIR3DX1 90011 broad.mit.edu 37 19 55049204 55049204 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:55049204C>T uc010erm.2 + 2 282 c.270C>T c.(268-270)CTC>CTT p.L90L KIR3DX1_uc010yfa.1_RNA|KIR3DX1_uc010yfb.1_RNA|KIR3DX1_uc010yfc.1_RNA|KIR3DX1_uc010yfd.1_RNA Homo sapiens killer cell immunoglobulin-like receptor, three domains, X1, mRNA (cDNA clone IMAGE:4849085). ovary(1) 1 GBM - Glioblastoma multiforme(193;0.099) GAGTACTCCTCTGTCATTCAC 0.343 Colon(183;529 2002 28270 32358 35845)|Esophageal Squamous(50;443 1006 2278 10294 37938) NA 24 81 0 0 0.005443 0 0 KIR2DS4 3809 broad.mit.edu 37 19 55349312 55349312 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:55349312C>A uc002qhm.1 + 3 398 c.352C>A c.(352-354)CTG>ATG p.L118M KIR2DS4_uc010yfj.1_Missense_Mutation_p.L111M|KIR2DS4_uc010yfk.1_RNA|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Missense_Mutation_p.L118M|KIR2DS4_uc002qhn.1_Missense_Mutation_p.L65M NM_012314 NP_036446 P43632 KI2S4_HUMAN killer cell immunoglobulin-like receptor, two 118 Extracellular (Potential). integral to plasma membrane receptor activity 0 GBM - Glioblastoma multiforme(193;0.0192) CAGTGACCCTCTGGACATGGT 0.507 NA 74 285 1.13027e-35 1.42782e-35 0.01441 1 0 PEG3 5178 broad.mit.edu 37 19 57334186 57334186 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:57334186C>A uc002qnu.2 - 3 851 c.500G>T c.(499-501)CGG>CTG p.R167L ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_Missense_Mutation_p.R42L|ZIM2_uc002qnq.2_Missense_Mutation_p.R42L|ZIM2_uc010etp.2_Missense_Mutation_p.R42L|ZIM2_uc010ygs.1_Missense_Mutation_p.R42L|PEG3_uc002qnt.2_Missense_Mutation_p.R168L|PEG3_uc002qnv.2_Missense_Mutation_p.R167L|PEG3_uc002qnw.2_Missense_Mutation_p.R42L|PEG3_uc002qnx.2_Missense_Mutation_p.R41L|PEG3_uc010etr.2_Missense_Mutation_p.R167L NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 167 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TCTGCCCCTCCGGTCCCAGTC 0.542 NA 7 10 8.12818e-05 8.59192e-05 0.001984 1 0 ZNF547 284306 broad.mit.edu 37 19 57888907 57888907 + Missense_Mutation SNP A A G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:57888907A>G uc002qol.2 + 4 756 c.563A>G c.(562-564)AAA>AGA p.K188R ZNF547_uc002qpm.3_Missense_Mutation_p.K114R|ZNF547_uc010ygx.1_Missense_Mutation_p.K188R NM_173631 NP_775902 Q8IVP9 ZN547_HUMAN zinc finger protein 547 188 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AAGTGCAGCAAATGTGGGATA 0.413 NA 22 58 0 0 0.00333 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58563859 58563859 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:58563859C>T uc002qrc.1 + 5 714 c.467C>T c.(466-468)GCG>GTG p.A156V NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 156 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CCATTCTAGGCGTCTGAGCTG 0.617 NA 15 56 0 0 0.006122 0 0 RNASEH1 246243 broad.mit.edu 37 2 3605786 3605786 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:3605786G>C uc002qxt.2 - 1 155 c.65C>G c.(64-66)TCT>TGT p.S22C RNASEH1_uc002qxs.2_5'UTR|uc002qxu.2_5'Flank|uc002qxv.2_5'Flank NM_002936 NP_002927 O60930 RNH1_HUMAN ribonuclease H1 22 RNA catabolic process cytoplasm magnesium ion binding|ribonuclease H activity|RNA binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22) GAACCCGCGAGAGCCGCGGCG 0.697 NA 2 8 0 0 0.004672 0 0 NT5C1B 93034 broad.mit.edu 37 2 18736478 18736478 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:18736478C>T uc010exr.2 - 9 2036 c.1932G>A c.(1930-1932)GTG>GTA p.V644V NT5C1B_uc002rcy.2_3'UTR|RDH14_uc002rcx.3_Silent_p.V330V NM_033253 NP_150278 Q96P26 5NT1B_HUMAN 5' nucleotidase, cytosolic IB isoform 2 Error:Variant_position_missing_in_Q96P26_after_alignment purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding skin(2)|ovary(1) 3 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) GGCCAACCATCACTTCACTGA 0.398 NA 19 104 0 0 0.010504 0 0 APOB 338 broad.mit.edu 37 2 21225915 21225915 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:21225915C>T uc002red.2 - 29 12507 c.12379G>A c.(12379-12381)GAC>AAC p.D4127N NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 4127 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AACCTCACGTCGATATCATCA 0.502 NA 12 135 0 0 0.001855 0 0 OTOF 9381 broad.mit.edu 37 2 26750699 26750699 + Splice_Site SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:26750699C>A uc002rhk.2 - 3 354 c.227_splice c.e3+1 p.K76_splice NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCCACACTTACTTGTTGCTGA 0.562 GBM(102;732 1451 20652 24062 31372) NA 8 69 0.000442599 0.000463444 0.006214 1 0 LRPPRC 10128 broad.mit.edu 37 2 44204152 44204152 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:44204152C>T uc002rtr.2 - 5 689 c.631G>A c.(631-633)GGA>AGA p.G211R LRPPRC_uc010yob.1_Missense_Mutation_p.G111R|LRPPRC_uc010faw.1_Missense_Mutation_p.G185R NM_133259 NP_573566 P42704 LPPRC_HUMAN leucine-rich PPR motif-containing protein 211 PPR 3. mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding ovary(2)|skin(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TCAATATCTCCTACATTACAA 0.303 NA 3 40 0 0 0.004672 0 0 PPM1B 5495 broad.mit.edu 37 2 44428516 44428516 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:44428516G>C uc002rtt.2 + 2 606 c.178G>C c.(178-180)GAT>CAT p.D60H PPM1B_uc002rts.2_Missense_Mutation_p.D60H|PPM1B_uc002rtu.2_Missense_Mutation_p.D60H|PPM1B_uc002rtv.2_Intron|PPM1B_uc002rtw.2_Missense_Mutation_p.D60H|PPM1B_uc002rtx.2_Missense_Mutation_p.D60H NM_002706 NP_002697 O75688 PPM1B_HUMAN protein phosphatase 1B isoform 1 60 Manganese 1 (By similarity).|Manganese 2 (By similarity). protein dephosphorylation protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity kidney(1)|skin(1) 2 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TGCAGTTTATGATGGTCATGC 0.448 NA 37 144 0 0 0.004878 0 0 MCFD2 90411 broad.mit.edu 37 2 47136169 47136169 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:47136169C>G uc002rvk.2 - 2 236 c.142G>C c.(142-144)GAC>CAC p.D48H MCFD2_uc002rvl.2_Intron|MCFD2_uc010fba.2_Missense_Mutation_p.D46H|MCFD2_uc010yof.1_Intron NM_139279 NP_644808 Q8NI22 MCFD2_HUMAN multiple coagulation factor deficiency 2 48 post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|vesicle-mediated transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus calcium ion binding central_nervous_system(1) 1 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) Antihemophilic Factor(DB00025) TACTCTTGGTCGTGCACTGTG 0.622 NA 16 78 0 0 0.008871 0 0 FSHR 2492 broad.mit.edu 37 2 49190117 49190117 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:49190117G>A uc002rww.2 - 10 1917 c.1843C>T c.(1843-1845)CAC>TAC p.H615Y FSHR_uc002rwx.2_Missense_Mutation_p.H553Y|FSHR_uc010fbn.2_Missense_Mutation_p.H589Y NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 615 Helical; Name=7; (Potential). female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) TTGATGGGGTGAAACAGAACC 0.483 NA Gonadal_Dysgenesis_46_XX 8 59 0 0 0.006214 0 0 NRXN1 9378 broad.mit.edu 37 2 50574003 50574003 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:50574003C>A uc010fbp.2 - 1 892 c.85G>T c.(85-87)GGG>TGG p.G29W NRXN1_uc002rxb.3_Intron|NRXN1_uc010fbq.2_Intron|NRXN1_uc002rxe.3_Intron|NRXN1_uc002rxc.1_Intron NM_138735 NP_620072 P58400 NRX1B_HUMAN neurexin 1 isoform beta precursor 29 angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GCCAGGCGCCCCCCTGcgccg 0.582 NA 5 6 1.23904e-05 1.32442e-05 0.000602 1 0 C2orf73 129852 broad.mit.edu 37 2 54587462 54587462 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:54587462G>C uc002rxt.1 + 5 669 c.627G>C c.(625-627)GAG>GAC p.E209D C2orf73_uc010yor.1_Missense_Mutation_p.E151D|C2orf73_uc002rxs.1_Missense_Mutation_p.E88D|C2orf73_uc010yos.1_RNA NM_001100396 NP_001093866 Q8N5S3 CB073_HUMAN hypothetical protein LOC129852 209 0 AAAAAACAGAGAAAGGAAACT 0.448 NA 3 24 0 0 0.004672 0 0 USP34 9736 broad.mit.edu 37 2 61522325 61522325 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:61522325C>G uc002sbe.2 - 31 4377 c.4355G>C c.(4354-4356)AGA>ACA p.R1452T NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 1452 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) CCTTATTCTTCTATTAGGTTT 0.333 NA 24 91 0 0 0.005443 0 0 VAX2 25806 broad.mit.edu 37 2 71160154 71160154 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:71160154G>A uc002shh.2 + 3 725 c.693G>A c.(691-693)CCG>CCA p.P231P ATP6V1B1_uc002shi.1_5'Flank|ATP6V1B1_uc002shj.2_5'Flank|ATP6V1B1_uc010fdv.2_5'Flank|ATP6V1B1_uc010fdw.2_5'Flank NM_012476 NP_036608 Q9UIW0 VAX2_HUMAN ventral anterior homeobox 2 231 ectoderm development|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GCCTCAACCCGCTGTCCTCGG 0.692 NA 16 41 0 0 0.008871 0 0 FUNDC2P2 388965 broad.mit.edu 37 2 84518384 84518384 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:84518384G>C uc010ffz.1 + 1 579 c.442G>C c.(442-444)GGC>CGC p.G148R NR_003663 RecName: Full=FUN14 domain-containing protein 2; AltName: Full=Hepatitis C virus core-binding protein 6; AltName: Full=Cervical cancer proto-oncogene 3 protein; Short=HCC-3; 0 CTTTCTGCTTGGCATGGCATC 0.468 NA 45 102 0 0 0.01441 0 0 RNF103 7844 broad.mit.edu 37 2 86849937 86849937 + Missense_Mutation SNP T T C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:86849937T>C uc002srn.2 - 1 1042 c.73A>G c.(73-75)ATT>GTT p.I25V VPS24_uc010ytl.1_Intron|RNF103_uc002srp.2_Missense_Mutation_p.I25V NM_005667 NP_005658 O00237 RN103_HUMAN ring finger protein 103 25 Helical; (Potential). central nervous system development|ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1) 1 TACCACACAATGGCCTCAAAA 0.522 NA 10 34 0 0 0.006214 0 0 RANBP2 5903 broad.mit.edu 37 2 109382771 109382771 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:109382771G>T uc002tem.3 + 20 5902 c.5776G>T c.(5776-5778)GAT>TAT p.D1926Y NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 1926 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 CCAGGCTCAGGATATTAGTGG 0.408 NA 96 203 2.57667e-78 3.2736e-78 0.01441 1 0 POLR1B 84172 broad.mit.edu 37 2 113331367 113331367 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:113331367G>T uc002thw.2 + 14 3080 c.2500G>T c.(2500-2502)GGG>TGG p.G834W POLR1B_uc010fkn.2_Missense_Mutation_p.G778W|POLR1B_uc002thx.2_Missense_Mutation_p.G695W|POLR1B_uc010fko.2_Missense_Mutation_p.G651W|POLR1B_uc010fkp.2_Missense_Mutation_p.G273W|POLR1B_uc010yxn.1_Missense_Mutation_p.G872W|POLR1B_uc002thy.2_Missense_Mutation_p.G695W|POLR1B_uc010yxo.1_Missense_Mutation_p.G611W NM_019014 NP_061887 Q9H9Y6 RPA2_HUMAN RNA polymerase I polypeptide B isoform 1 834 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding ovary(1) 1 CCTCAACACCGGGGAAAGTTT 0.338 Ovarian(16;256 576 9537 23969 41147) NA 40 93 1.62957e-23 2.0091e-23 0.00874 1 0 WDR33 55339 broad.mit.edu 37 2 128467308 128467308 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:128467308C>A uc002tpg.1 - 19 3614 c.3431G>T c.(3430-3432)CGA>CTA p.R1144L NM_018383 NP_060853 Q9C0J8 WDR33_HUMAN WD repeat domain 33 isoform 1 1144 postreplication repair|spermatogenesis collagen|nucleus protein binding 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) ATCTCGTCCTCGGGCCGCTTC 0.562 NA 7 161 2.0095e-06 2.17587e-06 0.001984 1 0 SMPD4 55627 broad.mit.edu 37 2 130930378 130930378 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:130930378C>A uc002tqq.1 - 6 1073 c.553G>T c.(553-555)GGT>TGT p.G185C SMPD4_uc002tqp.1_5'UTR|SMPD4_uc010yzy.1_Intron|SMPD4_uc010yzz.1_Intron|SMPD4_uc002tqr.1_Missense_Mutation_p.G185C|SMPD4_uc002tqs.1_Missense_Mutation_p.G53C|SMPD4_uc002tqt.1_Missense_Mutation_p.G63C|SMPD4_uc010zaa.1_Missense_Mutation_p.G72C|SMPD4_uc010zab.1_Missense_Mutation_p.G112C|SMPD4_uc010zac.1_Intron|SMPD4_uc010zad.1_Intron NM_017951 NP_060421 Q9NXE4 NSMA3_HUMAN sphingomyelin phosphodiesterase 4 isoform 2 146 sphingomyelin catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity 0 Colorectal(110;0.1) Phosphatidylserine(DB00144) AAGTTCAGACCAAGGCCCCCA 0.607 NA 27 30 6.36457e-07 6.93655e-07 0.003954 1 0 NEB 4703 broad.mit.edu 37 2 152500536 152500536 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:152500536C>T uc010fnx.2 - 57 7943 c.7752G>A c.(7750-7752)CAG>CAA p.Q2584Q NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 2584 Nebulin 69. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) CCCTGTCACTCTGGATCTTGG 0.542 NA 140 292 0 0 0.01441 0 0 KCNJ3 3760 broad.mit.edu 37 2 155711819 155711819 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:155711819C>T uc002tyv.1 + 3 1695 c.1500C>T c.(1498-1500)TTC>TTT p.F500F KCNJ3_uc010zce.1_3'UTR NM_002239 NP_002230 P48549 IRK3_HUMAN potassium inwardly-rectifying channel J3 500 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding upper_aerodigestive_tract(1)|pancreas(1) 2 Halothane(DB01159) CTGATCGCTTCACATAACAAA 0.398 NA 7 17 0 0 0.001984 0 0 TTN 7273 broad.mit.edu 37 2 179424766 179424766 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:179424766C>A uc010zfg.1 - 275 78613 c.78389G>T c.(78388-78390)TGG>TTG p.W26130L uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.W19825L|TTN_uc010zfi.1_Missense_Mutation_p.W19758L|TTN_uc010zfj.1_Missense_Mutation_p.W19633L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 27057 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) GGAAGTTTTCCAGTCAGTGTC 0.398 NA 13 37 1.49906e-05 1.5998e-05 0.00245 1 0 TTN 7273 broad.mit.edu 37 2 179433143 179433143 + Missense_Mutation SNP C C T rs56341835 TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:179433143C>T uc010zfg.1 - 275 70236 c.70012G>A c.(70012-70014)GAA>AAA p.E23338K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E17033K|TTN_uc010zfi.1_Missense_Mutation_p.E16966K|TTN_uc010zfj.1_Missense_Mutation_p.E16841K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 24265 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) GTAATACTTTCAGCACTGACG 0.408 NA 4 21 0 0 0.000602 0 0 TTN 7273 broad.mit.edu 37 2 179456184 179456184 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:179456184C>A uc010zfg.1 - 253 52788 c.52564G>T c.(52564-52566)GTA>TTA p.V17522L uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V11217L|TTN_uc010zfi.1_Missense_Mutation_p.V11150L|TTN_uc010zfj.1_Missense_Mutation_p.V11025L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 18449 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) CCAGCCTTTACCACAAGACCT 0.393 NA 81 174 7.3878e-23 9.02502e-23 0.01441 1 0 TTN 7273 broad.mit.edu 37 2 179464429 179464429 + Silent SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:179464429G>C uc010zfg.1 - 238 48719 c.48495C>G c.(48493-48495)CTC>CTG p.L16165L uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L9860L|TTN_uc010zfi.1_Silent_p.L9793L|TTN_uc010zfj.1_Silent_p.L9668L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 17092 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) GGGTGTCATAGAGAACAGGTT 0.438 NA 27 112 0 0 0.00632 0 0 CCDC141 285025 broad.mit.edu 37 2 179718180 179718180 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:179718180G>C uc002unf.1 - 10 1564 c.1507C>G c.(1507-1509)CAG>GAG p.Q503E NM_173648 NP_775919 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 503 protein binding ovary(7)|pancreas(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) TATAAGTGCTGAGCAAGGTCA 0.433 NA 23 151 0 0 0.005443 0 0 CCDC141 285025 broad.mit.edu 37 2 179718348 179718348 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:179718348G>C uc002unf.1 - 10 1396 c.1339C>G c.(1339-1341)CAT>GAT p.H447D NM_173648 NP_775919 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 447 protein binding ovary(7)|pancreas(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) TACCAAAAATGACACTAAATT 0.358 NA 17 55 0 0 0.006122 0 0 NCKAP1 10787 broad.mit.edu 37 2 183791550 183791550 + Silent SNP T T C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:183791550T>C uc002upc.2 - 30 3666 c.3264A>G c.(3262-3264)CTA>CTG p.L1088L NCKAP1_uc002upb.2_Silent_p.L1094L NM_013436 NP_038464 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 isoform 1 1088 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) TTACCATATCTAGCAGTAAAT 0.318 NA 20 38 0 0 0.010504 0 0 NCKAP1 10787 broad.mit.edu 37 2 183791552 183791552 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:183791552G>A uc002upc.2 - 30 3664 c.3262C>T c.(3262-3264)CTA>TTA p.L1088L NCKAP1_uc002upb.2_Silent_p.L1094L NM_013436 NP_038464 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 isoform 1 1088 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) ACCATATCTAGCAGTAAATAA 0.318 NA 20 37 0 0 0.010504 0 0 ANKAR 150709 broad.mit.edu 37 2 190611111 190611111 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:190611111G>A uc002uqw.1 + 22 3850 c.3850G>A c.(3850-3852)GAG>AAG p.E1284K ANKAR_uc002uqu.2_RNA|ANKAR_uc002uqx.1_RNA|ANKAR_uc002uqy.1_3'UTR NM_144708 NP_653309 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 1355 integral to membrane binding ovary(2)|pancreas(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) TTTAGGGAAGGAGCACCGAAG 0.333 NA 13 173 0 0 0.00245 0 0 HECW2 57520 broad.mit.edu 37 2 197105193 197105193 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:197105193G>A uc002utm.1 - 21 3927 c.3744C>T c.(3742-3744)GTC>GTT p.V1248V HECW2_uc002utl.1_Silent_p.V892V NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin 1248 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1) 18 CAACGAAGGTGACATATAGCT 0.473 NA 37 55 0 0 0.006999 0 0 NIF3L1 60491 broad.mit.edu 37 2 201760030 201760030 + Nonsense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:201760030C>T uc002uwm.2 + 4 734 c.643C>T c.(643-645)CAG>TAG p.Q215* NIF3L1_uc002uwl.2_Nonsense_Mutation_p.Q188*|NIF3L1_uc002uwn.2_Nonsense_Mutation_p.Q188*|NIF3L1_uc002uwo.2_Nonsense_Mutation_p.Q215*|NIF3L1_uc002uwp.2_Nonsense_Mutation_p.Q215*|NIF3L1_uc002uwq.2_Nonsense_Mutation_p.Q215* NM_001136039 NP_001129511 Q9GZT8 NIF3L_HUMAN NIF3 NGG1 interacting factor 3-like 1 isoform 1 215 positive regulation of transcription, DNA-dependent transcription factor binding skin(1) 1 GAATTGTACTCAGAAGGCTTT 0.368 NA 51 118 0 0 0.01441 0 0 ALS2CR11 151254 broad.mit.edu 37 2 202352615 202352615 + Missense_Mutation SNP T T A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:202352615T>A uc002uye.2 - 15 1640 c.1592A>T c.(1591-1593)GAT>GTT p.D531V ALS2CR11_uc002uyf.2_Missense_Mutation_p.D1728V|ALS2CR11_uc010fti.2_3'UTR NM_152525 NP_689738 Q53TS8 AL2SA_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 531 large_intestine(1)|ovary(1)|skin(1) 3 CTCAAATTTATCTGAACAATC 0.294 NA 10 75 0 0 0.006214 0 0 NBEAL1 65065 broad.mit.edu 37 2 204000719 204000719 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:204000719C>G uc002uzt.3 + 27 4379 c.4046C>G c.(4045-4047)TCT>TGT p.S1349C NBEAL1_uc002uzs.3_Missense_Mutation_p.S59C NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 isoform 3 1349 binding ovary(1)|skin(1) 2 GAAGATAGCTCTGTGGGAGAA 0.408 NA 18 73 0 0 0.00499 0 0 ZDBF2 57683 broad.mit.edu 37 2 207173357 207173357 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:207173357G>A uc002vbp.2 + 5 4355 c.4105G>A c.(4105-4107)GAT>AAT p.D1369N NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1369 nucleic acid binding|zinc ion binding ovary(3) 3 AGAAAGTTCTGATTCCAATGA 0.398 NA 7 58 0 0 0.001984 0 0 PRKAG3 53632 broad.mit.edu 37 2 219688556 219688556 + Missense_Mutation SNP C C A rs144562493 by1000genomes TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:219688556C>A uc002vjb.1 - 13 1418 c.1399G>T c.(1399-1401)GTG>TTG p.V467L NM_017431 NP_059127 Q9UGI9 AAKG3_HUMAN AMP-activated protein kinase, non-catalytic 467 CBS 4. cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation cytosol AMP-activated protein kinase activity|protein kinase binding ovary(1)|lung(1) 2 Renal(207;0.0474) Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGGGAGACCACGCCCAAGAGA 0.612 NA 29 47 7.26314e-15 8.55921e-15 0.007291 1 0 WDR69 164781 broad.mit.edu 37 2 228756020 228756020 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:228756020C>T uc002vpn.1 + 4 387 c.308C>T c.(307-309)TCG>TTG p.S103L WDR69_uc010zlw.1_Missense_Mutation_p.S88L|WDR69_uc002vpo.1_RNA NM_178821 NP_849143 Q8N136 WDR69_HUMAN WD repeat domain 69 103 WD 1. breast(1) 1 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148) CTTAACAAATCGGGCTCATGG 0.299 NA 17 60 0 0 0.010504 0 0 INPP5D 3635 broad.mit.edu 37 2 234104107 234104107 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:234104107C>T uc010zmo.1 + 23 2812 c.2659C>T c.(2659-2661)CAC>TAC p.H887Y INPP5D_uc010zmp.1_Missense_Mutation_p.H886Y NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN SH2 containing inositol phosphatase isoform a 887 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding ovary(1)|central_nervous_system(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) CCTCACCAGCCACGACCCCAT 0.567 NSCLC(82;1215 1426 16163 20348 41018) NA 24 52 0 0 0.00278 0 0 SEPT2 4735 broad.mit.edu 37 2 242283227 242283227 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:242283227G>T uc002wbc.2 + 10 1178 c.757G>T c.(757-759)GTC>TTC p.V253F SEPT2_uc002wbd.2_Missense_Mutation_p.V253F|SEPT2_uc002wbf.2_Missense_Mutation_p.V253F|SEPT2_uc002wbg.2_Missense_Mutation_p.V253F|SEPT2_uc002wbh.2_Missense_Mutation_p.V263F|SEPT2_uc010zop.1_Missense_Mutation_p.V288F NM_001008491 NP_001008491 Q15019 SEPT2_HUMAN septin 2 253 cell division|mitosis actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle GTP binding central_nervous_system(1) 1 all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889) AGGAAAGAAGGTCAGAGGCCG 0.502 NA 11 264 0.00010058 0.000105982 0.013537 1 0 STK25 10494 broad.mit.edu 37 2 242438131 242438131 + Silent SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:242438131G>C uc002wbm.2 - 7 1111 c.840C>G c.(838-840)CTC>CTG p.L280L STK25_uc002wbk.2_Silent_p.L99L|STK25_uc002wbl.2_3'UTR|STK25_uc002wbn.2_Silent_p.L280L|STK25_uc002wbo.2_Silent_p.L203L|STK25_uc010zos.1_Silent_p.L186L|STK25_uc010zot.1_Silent_p.L206L|STK25_uc002wbp.2_Silent_p.L280L|STK25_uc010fzo.2_Silent_p.L203L|STK25_uc010zou.1_Silent_p.L186L|STK25_uc010zov.1_Silent_p.L186L NM_006374 NP_006365 O00506 STK25_HUMAN serine/threonine kinase 25 280 response to oxidative stress|signal transduction Golgi apparatus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity 0 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839) TGAGCTCCGTGAGGAAGGAGG 0.577 NSCLC(99;1100 1566 7679 28647 48345) NA 15 59 0 0 0.006122 0 0 CDS2 8760 broad.mit.edu 37 20 5170746 5170746 + Splice_Site SNP A A G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr20:5170746A>G uc002wls.2 + 13 1463 c.1206_splice c.e13-2 p.R402_splice CDS2_uc010zqt.1_Splice_Site|CDS2_uc002wlu.2_Splice_Site|CDS2_uc010zqu.1_Splice_Site_p.R282_splice|CDS2_uc002wlv.2_Splice_Site_p.R304_splice|CDS2_uc010zqv.1_Splice_Site_p.R172_splice NM_003818 NP_003809 O95674 CDS2_HUMAN phosphatidate cytidylyltransferase 2 phospholipid biosynthetic process integral to membrane|mitochondrial inner membrane phosphatidate cytidylyltransferase activity 0 ATTCTGTTCCAGAGGCCCTAA 0.512 NA 22 28 0 0 0.014323 0 0 TASP1 55617 broad.mit.edu 37 20 13550200 13550200 + Silent SNP T T G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr20:13550200T>G uc002woi.2 - 7 639 c.522A>C c.(520-522)GCA>GCC p.A174A TASP1_uc010zri.1_Intron|TASP1_uc002woh.2_Silent_p.A151A|TASP1_uc010zrj.1_Intron NM_017714 NP_060184 Q9H6P5 TASP1_HUMAN taspase 1 precursor 174 asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation threonine-type endopeptidase activity 0 CATGATCTACTGCCCATCTGT 0.323 NA 16 53 0 0 0.010504 0 0 RIN2 54453 broad.mit.edu 37 20 19937423 19937423 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr20:19937423C>G uc002wro.1 + 3 359 c.323C>G c.(322-324)GCA>GGA p.A108G RIN2_uc010gcu.1_Missense_Mutation_p.A108G|RIN2_uc010gcv.1_5'UTR NM_018993 NP_061866 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 108 SH2. endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity lung(4)|ovary(1) 5 GAGGAGGCAGCAGAGGTCCTG 0.592 NA 2 6 0 0 0.004672 0 0 CST1 1469 broad.mit.edu 37 20 23729677 23729677 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr20:23729677G>A uc002wtp.2 - 2 389 c.318C>T c.(316-318)TTC>TTT p.F106F NM_001898 NP_001889 P01037 CYTN_HUMAN cystatin SN precursor 106 extracellular region cysteine-type endopeptidase inhibitor activity ovary(1) 1 Lung NSC(19;0.0676)|all_lung(19;0.148) GCTGTTCATGGAAGGCACAGG 0.577 NA 53 60 0 0 0.01441 0 0 CST2 1470 broad.mit.edu 37 20 23805871 23805871 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr20:23805871G>A uc002wtq.1 - 2 333 c.318C>T c.(316-318)TTC>TTT p.F106F NM_001322 NP_001313 P09228 CYTT_HUMAN cystatin SA precursor 106 extracellular region cysteine-type endopeptidase inhibitor activity 0 GCTGTTCATGGAAGGCACAGG 0.552 Pancreas(193;496 3017 22514 29918) NA 6 129 0 0 0.001168 0 0 NINL 22981 broad.mit.edu 37 20 25457142 25457142 + Missense_Mutation SNP T T A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr20:25457142T>A uc002wux.1 - 17 2859 c.2785A>T c.(2785-2787)AGC>TGC p.S929C NINL_uc010gdn.1_Intron NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN ninein-like 929 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 CCCGCTGCGCTCGCGCCGAAA 0.672 NA 5 14 0 0 0.000602 0 0 NINL 22981 broad.mit.edu 37 20 25477351 25477351 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr20:25477351C>G uc002wux.1 - 10 1332 c.1258G>C c.(1258-1260)GAG>CAG p.E420Q NINL_uc010gdn.1_Missense_Mutation_p.E420Q|NINL_uc010gdo.1_Missense_Mutation_p.E203Q|NINL_uc010ztf.1_Missense_Mutation_p.E436Q NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN ninein-like 420 Potential. G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 TCGTCCATCTCTTTCACAAAC 0.602 NA 11 62 0 0 0.008291 0 0 TPX2 22974 broad.mit.edu 37 20 30345357 30345357 + Silent SNP A A T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr20:30345357A>T uc002wwp.1 + 3 776 c.78A>T c.(76-78)GGA>GGT p.G26G TPX2_uc010gdv.1_Silent_p.G26G NM_012112 NP_036244 Q9ULW0 TPX2_HUMAN TPX2, microtubule-associated protein homolog 26 activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization cytoplasm|microtubule|nucleus|spindle pole ATP binding|GTP binding|protein kinase binding large_intestine(1)|ovary(1) 2 Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656) ATGATGAAGGAGATACTCAAA 0.393 NA 27 41 0 0 0.00632 0 0 FAM83C 128876 broad.mit.edu 37 20 33875148 33875148 + Silent SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr20:33875148G>T uc010zux.1 - 4 1552 c.1434C>A c.(1432-1434)CCC>CCA p.P478P EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Silent_p.P133P NM_178468 NP_848563 Q9BQN1 FA83C_HUMAN hypothetical protein LOC128876 478 ovary(2) 2 BRCA - Breast invasive adenocarcinoma(18;0.00252) GACCCCGCAGGGGGCTGGGCT 0.642 NA 17 47 1.99824e-07 2.19214e-07 0.00499 1 0 SPAG4 6676 broad.mit.edu 37 20 34207574 34207574 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr20:34207574G>A uc002xdb.1 + 10 1100 c.983G>A c.(982-984)CGA>CAA p.R328Q SPAG4_uc010zvi.1_Missense_Mutation_p.R251Q NM_003116 NP_003107 Q9NPE6 SPAG4_HUMAN sperm associated antigen 4 328 SUN. spermatogenesis cilium|flagellar axoneme|integral to membrane structural molecule activity 0 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.0127) CTGCCGGGCCGAGTGCAGCTG 0.652 NA 16 50 0 0 0.004007 0 0 ZHX3 23051 broad.mit.edu 37 20 39832861 39832861 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr20:39832861G>A uc002xjs.1 - 3 1074 c.696C>T c.(694-696)TTC>TTT p.F232F ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Silent_p.F232F|ZHX3_uc002xjt.1_Silent_p.F232F|ZHX3_uc002xju.1_Silent_p.F232F|ZHX3_uc002xjv.1_Silent_p.F232F|ZHX3_uc002xjw.1_Silent_p.F232F|ZHX3_uc010ggg.1_Silent_p.F232F NM_015035 NP_055850 Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 232 negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 Myeloproliferative disorder(115;0.00425) CCCCATTGATGAAGGAATGGT 0.557 NA 17 93 0 0 0.00499 0 0 GNAS 2778 broad.mit.edu 37 20 57415491 57415491 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr20:57415491G>A uc002xzt.2 + 1 697 c.330G>A c.(328-330)GAG>GAA p.E110E GNASAS_uc002xzs.1_Intron|GNAS_uc002xzu.3_5'Flank|GNAS_uc010gjq.2_5'Flank NM_016592 NP_057676 P63092 GNAS2_HUMAN GNAS complex locus NESP55 123 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1) 292 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) TCGACTACGAGACCGAGAGCG 0.622 Colon(117;935 1597 6045 8307 46442) NA Mis pituitary adenoma McCune-Albright syndrome; pseudohypoparathyroidism|type IA 3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome TSP Lung(22;0.16) 11 80 0 0 0.001855 0 0 GATA5 140628 broad.mit.edu 37 20 61048574 61048574 + Missense_Mutation SNP A A C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr20:61048574A>C uc002ycx.1 - 3 646 c.584T>G c.(583-585)CTG>CGG p.L195R NM_080473 NP_536721 Q9BWX5 GATA5_HUMAN GATA binding protein 5 195 GATA-type 1. 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) CGGTGTGGACAGGGCCCCGCA 0.672 NA 3 5 0 0 0.009096 0 0 SRMS 6725 broad.mit.edu 37 20 62178612 62178612 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr20:62178612C>T uc002yfi.1 - 1 246 c.205G>A c.(205-207)GAG>AAG p.E69K NM_080823 NP_543013 Q9H3Y6 SRMS_HUMAN src-related kinase lacking C-terminal regulatory 69 SH3. ATP binding|non-membrane spanning protein tyrosine kinase activity stomach(1)|lung(1) 2 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) ACACTCAGCTCCCCGCCACAC 0.697 NA 4 14 0 0 0.001168 0 0 TPTE 7179 broad.mit.edu 37 21 10906930 10906930 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr21:10906930C>A uc002yip.1 - 24 1999 c.1631G>T c.(1630-1632)AGT>ATT p.S544I TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.S526I|TPTE_uc002yir.1_Missense_Mutation_p.S506I|TPTE_uc010gkv.1_Missense_Mutation_p.S406I NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 544 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TACAACATCACTGGAAGTCAT 0.388 NA 18 47 1.87028e-06 2.03172e-06 0.012319 1 0 SON 6651 broad.mit.edu 37 21 34922480 34922480 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr21:34922480G>A uc002yse.1 + 3 992 c.943G>A c.(943-945)GAG>AAG p.E315K SON_uc002ysb.1_Missense_Mutation_p.E315K|SON_uc002ysc.2_Missense_Mutation_p.E315K|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank NM_138927 NP_620305 P18583 SON_HUMAN SON DNA-binding protein isoform F 315 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding ovary(4)|skin(2) 6 GACACCTACTGAGGTGTACCC 0.478 NA OREG0003564 type=REGULATORY REGION|Gene=AK074269|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 9 62 0 0 0.004482 0 0 DSCAM 1826 broad.mit.edu 37 21 41725430 41725430 + Missense_Mutation SNP T T A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr21:41725430T>A uc002yyq.1 - 5 1348 c.896A>T c.(895-897)TAC>TTC p.Y299F DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 299 Extracellular (Potential).|Ig-like C2-type 3. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) AGCAGTTCCGTATCTGTTGGA 0.512 Melanoma(134;970 1778 1785 21664 32388) NA 19 130 0 0 0.014323 0 0 COL6A2 1292 broad.mit.edu 37 21 47545457 47545457 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr21:47545457C>T uc002zia.1 + 25 1977 c.1895C>T c.(1894-1896)ACA>ATA p.T632I COL6A2_uc002zhy.1_Missense_Mutation_p.T632I|COL6A2_uc002zhz.1_Missense_Mutation_p.T632I|COL6A2_uc002zib.1_Missense_Mutation_p.T38I|COL6A2_uc002zic.1_5'Flank NM_001849 NP_001840 P12110 CO6A2_HUMAN alpha 2 type VI collagen isoform 2C2 precursor 632 VWFA 2.|Nonhelical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging central_nervous_system(7)|ovary(1) 8 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) ACCAACTTCACACTGGAGAAG 0.617 NA 29 34 0 0 0.007291 0 0 ARVCF 421 broad.mit.edu 37 22 19961246 19961246 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr22:19961246G>C uc002zqz.2 - 13 2430 c.2159C>G c.(2158-2160)TCT>TGT p.S720C ARVCF_uc002zqy.2_Missense_Mutation_p.S236C NM_001670 NP_001661 O00192 ARVC_HUMAN armadillo repeat protein 720 ARM 8. cell adhesion|multicellular organismal development protein binding liver(1) 1 Colorectal(54;0.0993) GTCGGTCTCAGACTGCAGCAG 0.662 NA 5 71 0 0 0.001168 0 0 SLC2A11 66035 broad.mit.edu 37 22 24226953 24226953 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr22:24226953G>A uc002zyn.3 + 12 1507 c.1408G>A c.(1408-1410)GAA>AAA p.E470K SLC2A11_uc002zym.3_Missense_Mutation_p.E477K|SLC2A11_uc002zyo.3_RNA|SLC2A11_uc011ajc.1_Silent_p.R476R|SLC2A11_uc002zyp.3_Missense_Mutation_p.E473K NM_001024938 NP_001020109 Q9BYW1 GTR11_HUMAN glucose transporter protein 10 isoform c 470 Cytoplasmic (Potential). integral to membrane|plasma membrane sugar transmembrane transporter activity ovary(1) 1 GATCTCCAAGGAATTACACAG 0.562 NA 21 59 0 0 0.008871 0 0 RFPL1 5988 broad.mit.edu 37 22 29837589 29837589 + Silent SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr22:29837589C>A uc003afn.2 + 2 641 c.432C>A c.(430-432)CTC>CTA p.L144L RFPL1S_uc003afm.1_RNA NM_021026 NP_066306 O75677 RFPL1_HUMAN ret finger protein-like 1 144 B30.2/SPRY. zinc ion binding 0 CTGACGACCTCAGGAGCGTCC 0.502 NA 23 90 1.17739e-12 1.36341e-12 0.005443 1 0 SF3A1 10291 broad.mit.edu 37 22 30740986 30740986 + Missense_Mutation SNP T T C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr22:30740986T>C uc003ahl.2 - 4 719 c.587A>G c.(586-588)GAC>GGC p.D196G NM_005877 NP_005868 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa isoform 1 196 SURP motif 2. nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding ovary(3)|large_intestine(1)|pancreas(1) 5 GCGGAGAAAGTCAAACTGGTA 0.572 NA 59 61 0 0 0.01441 0 0 H1F0 3005 broad.mit.edu 37 22 38201558 38201558 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr22:38201558G>C uc003aty.2 + 1 445 c.7G>C c.(7-9)GAG>CAG p.E3Q GCAT_uc003atz.2_5'Flank|GCAT_uc003aua.1_5'Flank NM_005318 NP_005309 P07305 H10_HUMAN H1 histone family, member 0 3 DNA fragmentation involved in apoptotic nuclear change|nucleosome assembly actin cytoskeleton|Golgi apparatus|nucleoplasm|nucleosome DNA binding 0 Melanoma(58;0.045) CACCATGACCGAGAATTCCAC 0.627 NSCLC(191;1872 2984 30230 41544)|Esophageal Squamous(4;11 371 39444 52196) NA 8 33 0 0 0.00308 0 0 GCAT 23464 broad.mit.edu 37 22 38211274 38211274 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr22:38211274G>T uc003atz.2 + 5 738 c.718G>T c.(718-720)GGG>TGG p.G240W GCAT_uc003aua.1_Missense_Mutation_p.G266W NM_014291 NP_055106 O75600 KBL_HUMAN glycine C-acetyltransferase precursor 240 biosynthetic process|cellular amino acid metabolic process glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups 0 Melanoma(58;0.045) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) TGGCTTCCTGGGGCCCACAGG 0.617 NA 4 24 1.23904e-05 1.32442e-05 0.000602 1 0 TNFRSF13C 115650 broad.mit.edu 37 22 42321413 42321413 + Silent SNP A A G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr22:42321413A>G uc003bbl.2 - 3 557 c.513T>C c.(511-513)ACT>ACC p.T171T WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|TNFRSF13C_uc010gyp.1_Silent_p.T172T NM_052945 NP_443177 Q96RJ3 TR13C_HUMAN BAFF receptor 171 Cytoplasmic (Potential). integral to membrane receptor activity 0 TCACCAGTTCAGTGGAGCCCA 0.677 NA 19 24 0 0 0.014323 0 0 WBP2NL 164684 broad.mit.edu 37 22 42418274 42418274 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr22:42418274G>C uc011ape.1 + 6 444 c.428G>C c.(427-429)AGA>ACA p.R143T WBP2NL_uc003bbt.2_Missense_Mutation_p.R143T|WBP2NL_uc011apk.1_Missense_Mutation_p.R15T|WBP2NL_uc003bbu.2_RNA|WBP2NL_uc003bbv.1_RNA NM_152613 NP_689826 Q6ICG8 WBP2L_HUMAN WBP2 N-terminal like 143 egg activation|male pronucleus assembly|meiosis perinuclear theca WW domain binding ovary(2) 2 TTTCCACTTAGAACCTTAAAT 0.383 NA 20 84 0 0 0.012319 0 0 POLDIP3 84271 broad.mit.edu 37 22 42991591 42991591 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr22:42991591C>T uc003bcu.2 - 6 942 c.843G>A c.(841-843)AAG>AAA p.K281K POLDIP3_uc011app.1_Silent_p.K202K|POLDIP3_uc003bcv.2_Silent_p.K252K|POLDIP3_uc011apq.1_Silent_p.K298K|POLDIP3_uc010gza.2_RNA|POLDIP3_uc011apr.1_RNA|POLDIP3_uc010gzb.1_Intron NM_032311 NP_115687 Q9BY77 PDIP3_HUMAN DNA polymerase delta interacting protein 3 281 RRM. positive regulation of translation cytoplasm|nuclear speck nucleotide binding|protein binding|RNA binding 0 TCACAGTCATCTTGGTGCCTT 0.448 Ovarian(52;967 1128 5875 19997 42537) NA 6 48 0 0 0.001168 0 0 PACSIN2 11252 broad.mit.edu 37 22 43287087 43287087 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr22:43287087C>T uc010gzg.2 - 4 541 c.319G>A c.(319-321)GAT>AAT p.D107N PACSIN2_uc003bdg.3_Missense_Mutation_p.D107N|PACSIN2_uc003bde.3_Missense_Mutation_p.D107N|PACSIN2_uc003bdf.3_Missense_Mutation_p.D107N NM_007229 NP_009160 Q9UNF0 PACN2_HUMAN protein kinase C and casein kinase substrate in 107 actin cytoskeleton organization|endocytosis cytoplasmic membrane-bounded vesicle transporter activity 0 Glioma(61;0.222) TCGAAGTCATCGTTCATCAGT 0.572 NA 11 41 0 0 0.013537 0 0 PKDREJ 10343 broad.mit.edu 37 22 46655967 46655967 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr22:46655967G>A uc003bhh.2 - 1 3253 c.3253C>T c.(3253-3255)CGT>TGT p.R1085C NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 1085 Extracellular (Potential). acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) ATGACAAAACGAGGTGCCTGC 0.502 NA 7 31 0 0 0.00308 0 0 CELSR1 9620 broad.mit.edu 37 22 46787649 46787649 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr22:46787649G>C uc003bhw.1 - 15 6029 c.6029C>G c.(6028-6030)TCC>TGC p.S2010C CELSR1_uc011arc.1_Missense_Mutation_p.S331C NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 2010 Extracellular (Potential).|Laminin EGF-like.|EGF-like 8; calcium-binding. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GCGGCTGTGGGAGCCATGGGG 0.632 NA 4 20 0 0 0.009096 0 0 CELSR1 9620 broad.mit.edu 37 22 46806436 46806436 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr22:46806436G>C uc003bhw.1 - 7 4792 c.4792C>G c.(4792-4794)CTA>GTA p.L1598V CELSR1_uc011arc.1_5'Flank NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 1598 Extracellular (Potential).|Laminin G-like 1. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CCCAGGAGTAGAGGGCCGGTC 0.637 NA 15 39 0 0 0.003163 0 0 MOV10L1 54456 broad.mit.edu 37 22 50591507 50591507 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr22:50591507G>A uc003bjj.2 + 22 3009 c.2926G>A c.(2926-2928)GAG>AAG p.E976K MOV10L1_uc003bjk.3_Missense_Mutation_p.E976K|MOV10L1_uc011arp.1_Missense_Mutation_p.E956K|MOV10L1_uc003bjl.2_Missense_Mutation_p.E103K|MOV10L1_uc003bjm.1_Missense_Mutation_p.E19K NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN MOV10-like 1 isoform 1 976 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding ovary(2)|skin(1) 3 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) CCGGTCCCACGAGGCCCTGCT 0.587 NA 21 73 0 0 0.010504 0 0 SYN2 6854 broad.mit.edu 37 3 12046037 12046037 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr3:12046037C>T uc003bwm.2 + 1 176 c.12C>T c.(10-12)TTC>TTT p.F4F SYN2_uc003bwl.1_Silent_p.F4F NM_133625 NP_598328 Q92777 SYN2_HUMAN synapsin II isoform IIa 4 neurotransmitter secretion synaptic vesicle ATP binding|ligase activity ovary(1)|central_nervous_system(1) 2 TGATGAACTTCCTGCGGCGCC 0.657 NA 4 8 0 0 0.00308 0 0 TSEN2 80746 broad.mit.edu 37 3 12531405 12531405 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr3:12531405G>C uc003bxc.2 + 2 493 c.106G>C c.(106-108)GAA>CAA p.E36Q TSEN2_uc003bwy.2_Missense_Mutation_p.E36Q|TSEN2_uc003bwz.2_Missense_Mutation_p.E36Q|TSEN2_uc003bxa.2_Missense_Mutation_p.E36Q|TSEN2_uc011auq.1_Missense_Mutation_p.E36Q|TSEN2_uc003bxb.2_Missense_Mutation_p.E36Q|TSEN2_uc011aur.1_5'UTR NM_025265 NP_079541 Q8NCE0 SEN2_HUMAN tRNA-intron nuclease 2 isoform 1 36 mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation cytoplasm|nucleolus|tRNA-intron endonuclease complex nucleic acid binding|tRNA-intron endonuclease activity central_nervous_system(1) 1 TCCTCTGAAAGAATTCAAGAT 0.448 NA 13 64 0 0 0.001855 0 0 TGFBR2 7048 broad.mit.edu 37 3 30713446 30713446 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr3:30713446G>C uc003ceo.2 + 4 1153 c.771G>C c.(769-771)GAG>GAC p.E257D TGFBR2_uc003cen.2_Missense_Mutation_p.E282D NM_003242 NP_003233 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II 257 Protein kinase.|Cytoplasmic (Potential).|ATP (By similarity). activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1) 26 GCTTTGCTGAGGTCTATAAGG 0.517 NA 8 53 0 0 0.004482 0 0 MLH1 4292 broad.mit.edu 37 3 37053541 37053541 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr3:37053541G>A uc003cgl.2 + 8 688 c.628G>A c.(628-630)GCC>ACC p.A210T MLH1_uc011aye.1_5'UTR|MLH1_uc011ayb.1_5'UTR|MLH1_uc010hge.2_Missense_Mutation_p.A210T|MLH1_uc003cgn.3_5'UTR|MLH1_uc011ayc.1_Missense_Mutation_p.A112T|MLH1_uc011ayd.1_5'UTR|MLH1_uc003cgo.2_5'UTR|MLH1_uc010hgg.1_5'UTR|MLH1_uc010hgh.1_5'UTR|MLH1_uc010hgi.1_5'UTR|MLH1_uc010hgj.1_5'UTR|MLH1_uc010hgk.2_5'UTR|MLH1_uc010hgl.1_5'Flank NM_000249 NP_000240 P40692 MLH1_HUMAN MutL protein homolog 1 210 mismatch repair|somatic hypermutation of immunoglobulin genes chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|protein binding p.0?(1) large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1) 77 ACTACCCAATGCCTCAACCGT 0.383 1 D|Mis|N|F|S colorectal|endometrial|ovarian|CNS colorectal|endometrial|ovarian|CNS MMR Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 14 54 0 0 0.00499 0 0 GOLGA4 2803 broad.mit.edu 37 3 37367527 37367527 + Nonsense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr3:37367527C>T uc003cgv.2 + 14 4454 c.4150C>T c.(4150-4152)CAA>TAA p.Q1384* GOLGA4_uc010hgr.1_Nonsense_Mutation_p.Q945*|GOLGA4_uc003cgw.2_Nonsense_Mutation_p.Q1406*|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Nonsense_Mutation_p.Q1265* NM_002078 NP_002069 Q13439 GOGA4_HUMAN golgi autoantigen, golgin subfamily a, 4 1384 Potential.|Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding ovary(2)|breast(1)|central_nervous_system(1) 4 TGTTCAGCTTCAAAATAGCAT 0.343 NA 9 28 0 0 0.004482 0 0 EXOG 9941 broad.mit.edu 37 3 38537932 38537932 + Missense_Mutation SNP T T C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr3:38537932T>C uc003cih.2 + 1 170 c.74T>C c.(73-75)GTA>GCA p.V25A EXOG_uc010hhg.2_RNA|EXOG_uc011ayq.1_Missense_Mutation_p.V25A|EXOG_uc003cij.2_5'UTR|EXOG_uc010hhd.2_5'UTR|EXOG_uc010hhe.2_5'UTR|EXOG_uc003cik.2_5'UTR|EXOG_uc010hhf.2_5'UTR|EXOG_uc003cii.2_5'UTR NM_005107 NP_005098 Q9Y2C4 EXOG_HUMAN endo/exonuclease (5'-3'), endonuclease G-like 25 mitochondrial inner membrane endonuclease activity|metal ion binding|nucleic acid binding 0 GCTGGGGCTGTAGTGGGCGCT 0.637 NA OREG0015479 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 25 0 0 0.012319 0 0 LRRC2 79442 broad.mit.edu 37 3 46574379 46574379 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr3:46574379C>G uc010hji.2 - 5 875 c.511G>C c.(511-513)GAA>CAA p.E171Q LRRC2_uc003cpu.3_Missense_Mutation_p.E171Q NM_024512 NP_078788 Q9BYS8 LRRC2_HUMAN leucine rich repeat containing 2 171 LRR 3. ovary(1) 1 Ovarian(412;0.0563) OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254) ACATTGAGTTCTTTCAGGTTC 0.348 NA 18 77 0 0 0.010504 0 0 PTPN23 25930 broad.mit.edu 37 3 47453061 47453061 + Missense_Mutation SNP C C T rs146178681 byFrequency TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr3:47453061C>T uc003crf.1 + 20 3869 c.3773C>T c.(3772-3774)CCG>CTG p.P1258L PTPN23_uc011baw.1_Missense_Mutation_p.P1223L|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Missense_Mutation_p.P1128L|uc003cri.2_5'Flank NM_015466 NP_056281 Q9H3S7 PTN23_HUMAN protein tyrosine phosphatase, non-receptor type 1258 Tyrosine-protein phosphatase. cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity p.P1258L(1) breast(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TACTGCCCCCCGCTAGTGGCA 0.577 NA 6 54 0 0 0.001984 0 0 COL7A1 1294 broad.mit.edu 37 3 48607742 48607742 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr3:48607742C>A uc003ctz.2 - 97 7407 c.7406G>T c.(7405-7407)GGG>GTG p.G2469V NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 2469 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GCCTCGGGGCCCAGGCAGCCC 0.627 NA 26 39 9.22233e-05 9.73306e-05 0.004656 1 0 GMPPB 29925 broad.mit.edu 37 3 49759191 49759191 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr3:49759191G>A uc003cxk.1 - 9 1302 c.1077C>T c.(1075-1077)ATC>ATT p.I359I AMIGO3_uc003cxj.2_5'Flank|GMPPB_uc003cxl.1_Silent_p.I386I NM_021971 NP_068806 Q9Y5P6 GMPPB_HUMAN GDP-mannose pyrophosphorylase B isoform 2 359 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine GTP binding|mannose-1-phosphate guanylyltransferase activity 0 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CCCCTCACATGATGATACGAG 0.557 NA 5 31 0 0 0.001984 0 0 POC1A 25886 broad.mit.edu 37 3 52172224 52172224 + Silent SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr3:52172224C>G uc003dcu.2 - 7 1092 c.774G>C c.(772-774)CTG>CTC p.L258L POC1A_uc003dcv.2_Silent_p.L220L|POC1A_uc003dcw.2_Silent_p.L258L NM_015426 NP_056241 Q8NBT0 POC1A_HUMAN WD repeat domain 51A isoform 1 258 WD 6. centriole|microtubule basal body 0 GGCCCTCCATCAGGTCCAGGA 0.602 NA 8 37 0 0 0.004482 0 0 DNAH1 25981 broad.mit.edu 37 3 52398911 52398911 + Silent SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr3:52398911C>G uc011bef.1 + 34 5655 c.5394C>G c.(5392-5394)CTC>CTG p.L1798L NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 1798 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) AGGAGGACCTCAAGCTCTTCT 0.627 NA 13 51 0 0 0.013537 0 0 PTX3 5806 broad.mit.edu 37 3 157160592 157160592 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr3:157160592G>C uc003fbl.3 + 3 1113 c.970G>C c.(970-972)GAT>CAT p.D324H VEPH1_uc003fbj.1_Intron|VEPH1_uc003fbk.1_Intron|VEPH1_uc010hvu.1_Intron NM_002852 NP_002843 P26022 PTX3_HUMAN pentraxin 3 precursor 324 Pentaxin. inflammatory response extracellular region central_nervous_system(1) 1 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) TGGTGGCTTTGATGAAACATT 0.493 NA 10 88 0 0 0.008291 0 0 SI 6476 broad.mit.edu 37 3 164793764 164793764 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr3:164793764G>A uc003fei.2 - 2 99 c.37C>T c.(37-39)CTG>TTG p.L13L NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 13 Helical; Signal-anchor for type II membrane protein; (Potential). carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) AGGACAATCAGAGAGATTTCC 0.269 NA HNSCC(35;0.089) 12 72 0 0 0.013537 0 0 FGFRL1 53834 broad.mit.edu 37 4 1018245 1018245 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:1018245G>A uc003gce.2 + 6 1026 c.865G>A c.(865-867)GAG>AAG p.E289K FGFRL1_uc003gcf.2_Missense_Mutation_p.E289K|FGFRL1_uc003gcg.2_Missense_Mutation_p.E289K|FGFRL1_uc010ibo.2_Missense_Mutation_p.E289K NM_021923 NP_068742 Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 289 Ig-like C2-type 3.|Extracellular (Potential). regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding 0 OV - Ovarian serous cystadenocarcinoma(23;0.0158) GTACGGCGCCGAGGGCCGCCA 0.657 NA 10 39 0 0 0.008291 0 0 ADD1 118 broad.mit.edu 37 4 2916722 2916722 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:2916722G>C uc003gfr.2 + 13 1905 c.1717G>C c.(1717-1719)GAG>CAG p.E573Q ADD1_uc003gfn.2_Intron|ADD1_uc003gfo.2_Missense_Mutation_p.E604Q|ADD1_uc003gfp.2_Missense_Mutation_p.E573Q|ADD1_uc003gfq.2_Missense_Mutation_p.E604Q|ADD1_uc003gfs.2_Missense_Mutation_p.E604Q NM_001119 NP_001110 P35611 ADDA_HUMAN adducin 1 (alpha) isoform a 573 actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding cytosol|F-actin capping protein complex|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CCGTGAGCTGGAGGAGTACCG 0.602 Esophageal Squamous(71;505 1201 20414 34538 37449) NA 6 28 0 0 0.001168 0 0 HS3ST1 9957 broad.mit.edu 37 4 11400759 11400759 + Nonsense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:11400759C>A uc003gmq.2 - 2 1194 c.871G>T c.(871-873)GAG>TAG p.E291* NM_005114 NP_005105 O14792 HS3S1_HUMAN heparan sulfate D-glucosaminyl 291 Golgi lumen|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity skin(1) 1 TTATTTGGCTCATGAAAATAT 0.488 NA 42 104 5.48756e-27 6.81602e-27 0.011902 1 0 SLIT2 9353 broad.mit.edu 37 4 20530616 20530616 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:20530616G>A uc003gpr.1 + 16 1711 c.1507G>A c.(1507-1509)GAT>AAT p.D503N SLIT2_uc003gps.1_Missense_Mutation_p.D495N NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 503 LRRNT 3. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 CTGCTTTGCGGATCTGGCTTG 0.398 NA 20 93 0 0 0.00333 0 0 SLIT2 9353 broad.mit.edu 37 4 20533668 20533668 + Nonsense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:20533668C>T uc003gpr.1 + 17 1879 c.1675C>T c.(1675-1677)CAA>TAA p.Q559* SLIT2_uc003gps.1_Nonsense_Mutation_p.Q551* NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 559 LRR 13. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 GAAACTTCCTCAATTACGTAA 0.294 NA 7 14 0 0 0.00308 0 0 GPR125 166647 broad.mit.edu 37 4 22389690 22389690 + Missense_Mutation SNP C C A rs141222776 TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:22389690C>A uc003gqm.1 - 19 3869 c.3604G>T c.(3604-3606)GTG>TTG p.V1202L GPR125_uc010ieo.1_Missense_Mutation_p.V1058L|GPR125_uc003gql.1_Missense_Mutation_p.V329L NM_145290 NP_660333 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 precursor 1202 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity skin(1) 1 Breast(46;0.198) CCGTTCTGCACGCTTCCTTCC 0.527 NA 27 68 2.85442e-18 3.41812e-18 0.010818 1 0 SRD5A3 79644 broad.mit.edu 37 4 56236183 56236183 + Silent SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:56236183C>G uc003hau.2 + 5 977 c.882C>G c.(880-882)CTC>CTG p.L294L uc003hav.1_Intron|uc003haw.1_Intron NM_024592 NP_078868 Q9H8P0 PORED_HUMAN steroid 5 alpha-reductase 3 294 Cytoplasmic (Potential). androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process endoplasmic reticulum membrane|integral to membrane 3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor 0 all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.0179) CTGCCTTTCTCAGCCACCAAT 0.423 NA 5 101 0 0 0.001984 0 0 LPHN3 23284 broad.mit.edu 37 4 62845391 62845391 + Silent SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:62845391G>T uc010ihh.2 + 15 2885 c.2712G>T c.(2710-2712)GGG>GGT p.G904G LPHN3_uc003hcq.3_Silent_p.G904G|LPHN3_uc003hct.2_Silent_p.G297G NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 891 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 TTTTCCGGGGGCTCCAGAGTG 0.498 NA 72 85 3.41413e-29 4.26447e-29 0.01441 1 0 UGT2B10 7365 broad.mit.edu 37 4 69874758 69874758 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:69874758C>A uc011cao.1 - 8 1149 c.1013G>T c.(1012-1014)GGA>GTA p.G338V UGT2B10_uc011can.1_Missense_Mutation_p.G254V P36537 UDB10_HUMAN RecName: Full=UDP-glucuronosyltransferase 2B28; Short=UDPGT 2B28; EC=2.4.1.17; Flags: Precursor; 375 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(3)|ovary(2) 5 GCCATTGGCTCCACCATGAGT 0.398 Melanoma(133;755 1763 25578 26334 46021) NA 33 156 3.21399e-22 3.9048e-22 0.004878 1 0 UGT2B28 54490 broad.mit.edu 37 4 70156375 70156375 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:70156375C>A uc003hej.2 + 5 1158 c.1156C>A c.(1156-1158)CAT>AAT p.H386N UGT2B28_uc010ihr.2_Intron NM_053039 NP_444267 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, 386 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Flunitrazepam(DB01544) GGCAATCTACCATGGGATCCC 0.428 NA 39 442 8.16904e-11 9.25085e-11 0.007835 1 0 SULT1E1 6783 broad.mit.edu 37 4 70707720 70707720 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:70707720C>T uc003heo.2 - 8 990 c.877G>A c.(877-879)GAG>AAG p.E293K NM_005420 NP_005411 P49888 ST1E1_HUMAN estrogen sulfotransferase 293 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol|nuclear membrane estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity ovary(1) 1 TCTTAGATCTCAGTTCGAAAC 0.303 NA 10 84 0 0 0.008291 0 0 GRSF1 2926 broad.mit.edu 37 4 71690060 71690060 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:71690060C>T uc010iia.1 - 9 1502 c.1419G>A c.(1417-1419)CTG>CTA p.L473L GRSF1_uc011caz.1_Silent_p.L355L|GRSF1_uc003hfs.2_Silent_p.L311L NM_002092 NP_002083 Q12849 GRSF1_HUMAN G-rich RNA sequence binding factor 1 isoform 1 473 RRM 3. mRNA polyadenylation mRNA binding|nucleotide binding 0 all_hematologic(202;0.21) Lung(101;0.235) GACATGAATTCAGGAACAGTT 0.274 NA 3 15 0 0 0.004672 0 0 CCDC158 339965 broad.mit.edu 37 4 77292610 77292610 + Missense_Mutation SNP T T A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:77292610T>A uc003hkb.3 - 9 1262 c.1109A>T c.(1108-1110)CAG>CTG p.Q370L NM_001042784 NP_001036249 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 370 Potential. skin(3)|ovary(2)|pancreas(1) 6 TCCAGATTCCTGACTGAATTG 0.373 NA 55 16 0 0 0.01441 0 0 BMP2K 55589 broad.mit.edu 37 4 79831813 79831813 + Silent SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:79831813C>G uc003hlk.2 + 16 2278 c.2112C>G c.(2110-2112)GGC>GGG p.G704G PAQR3_uc003hlm.2_Intron|PAQR3_uc003hln.2_Intron|uc010ijm.1_5'Flank NM_198892 NP_942595 Q9NSY1 BMP2K_HUMAN BMP-2 inducible kinase isoform a 704 nucleus ATP binding|protein serine/threonine kinase activity lung(1) 1 AAGAAAATGGCACTGCAAACC 0.388 NA 29 21 0 0 0.005443 0 0 PDLIM5 10611 broad.mit.edu 37 4 95445019 95445019 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:95445019C>G uc003hti.2 + 3 392 c.241C>G c.(241-243)CTG>GTG p.L81V PDLIM5_uc003htf.2_Missense_Mutation_p.L81V|PDLIM5_uc003htg.2_Missense_Mutation_p.L81V|PDLIM5_uc011cdx.1_Missense_Mutation_p.L81V|PDLIM5_uc003hth.2_Missense_Mutation_p.L81V|PDLIM5_uc003htj.2_5'UTR|PDLIM5_uc003htk.2_Missense_Mutation_p.L81V|PDLIM5_uc011cdy.1_Intron NM_006457 NP_006448 Q96HC4 PDLI5_HUMAN PDZ and LIM domain 5 isoform a 81 PDZ. regulation of dendritic spine morphogenesis|regulation of synaptogenesis actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome actin binding|actinin binding|protein kinase C binding|zinc ion binding ovary(1)|skin(1) 2 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.84e-09) GAATATGACTCTGCAAAGGTA 0.393 NA 6 37 0 0 0.001168 0 0 COL25A1 84570 broad.mit.edu 37 4 110222978 110222978 + Silent SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:110222978G>C uc003hze.1 - 2 729 c.198C>G c.(196-198)CTC>CTG p.L66L COL25A1_uc003hzg.2_Silent_p.L66L|COL25A1_uc003hzh.1_Silent_p.L66L NM_198721 NP_942014 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 isoform 1 66 Extracellular (Potential). collagen|extracellular space beta-amyloid binding|heparin binding ovary(2) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) TGGCGGATTCGAGAGCGGCGA 0.602 NA 10 162 0 0 0.008291 0 0 ANK2 287 broad.mit.edu 37 4 114278095 114278095 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:114278095G>T uc003ibe.3 + 38 8421 c.8321G>T c.(8320-8322)GGC>GTC p.G2774V ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.G76V|ANK2_uc011cgb.1_Missense_Mutation_p.G2789V NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 2741 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) ATCTGTGATGGCCATGGATGT 0.488 NA 14 102 6.31663e-08 6.96395e-08 0.003163 1 0 SMARCA5 8467 broad.mit.edu 37 4 144467174 144467174 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:144467174G>C uc003ijg.2 + 19 2956 c.2494G>C c.(2494-2496)GAG>CAG p.E832Q NM_003601 NP_003592 O60264 SMCA5_HUMAN SWI/SNF-related matrix-associated 832 CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding skin(1) 1 all_hematologic(180;0.158) TGAAGAGTTAGAGGAAAAAGA 0.383 NA 16 45 0 0 0.004007 0 0 GYPA 2993 broad.mit.edu 37 4 145061855 145061855 + Translation_Start_Site SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:145061855G>T uc003ijo.3 - 1 50 c.-66C>A c.(-68--64)CACTG>CAATG GYPA_uc003ijn.2_Translation_Start_Site|GYPA_uc011cia.1_RNA|GYPA_uc011cib.1_Translation_Start_Site|GYPA_uc003ijp.3_Translation_Start_Site|GYPA_uc010ioq.2_Translation_Start_Site|GYPA_uc010ior.2_Translation_Start_Site|GYPA_uc010ios.1_RNA NM_002099 NP_002090 P02724 GLPA_HUMAN glycophorin A precursor interspecies interaction between organisms membrane fraction receptor activity central_nervous_system(2) 2 all_hematologic(180;0.15) GCAAGTGTCAGTGTCTGACCT 0.433 NA 6 15 2.7689e-08 3.06278e-08 0.001984 1 0 SH3D19 152503 broad.mit.edu 37 4 152054279 152054279 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:152054279C>T uc010ipl.1 - 17 2915 c.1825G>A c.(1825-1827)GCC>ACC p.A609T SH3D19_uc003imb.2_Missense_Mutation_p.A364T|SH3D19_uc003imc.2_Missense_Mutation_p.A550T|SH3D19_uc003ime.2_Missense_Mutation_p.A586T|SH3D19_uc010ipm.2_Missense_Mutation_p.A586T NM_001009555 NP_001009555 Q5HYK7 SH319_HUMAN SH3 domain containing 19 isoform a 609 SH3 3. cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport cytosol|Golgi apparatus|nucleus|plasma membrane proline-rich region binding ovary(1)|skin(1) 2 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) TCTCCTCTGGCCCATTCCTCA 0.428 NA 6 122 0 0 0.001168 0 0 DCHS2 54798 broad.mit.edu 37 4 155312413 155312413 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:155312413C>G uc003inw.2 - 1 37 c.37G>C c.(37-39)GAC>CAC p.D13H DCHS2_uc003inx.2_Intron NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 13 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) ttttctccgtcttcattctct 0.144 NA 6 35 0 0 0.001168 0 0 GLRB 2743 broad.mit.edu 37 4 158091631 158091631 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:158091631G>A uc003ipj.2 + 10 1447 c.1245G>A c.(1243-1245)CTG>CTA p.L415L NM_000824 NP_000815 P48167 GLRB_HUMAN glycine receptor, beta isoform A precursor 415 Cytoplasmic (Probable). nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity skin(2) 2 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) AGTCTGATCTGAGATCTAATG 0.338 NA 48 38 0 0 0.01441 0 0 RAPGEF2 9693 broad.mit.edu 37 4 160244634 160244634 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:160244634C>T uc003iqg.3 + 5 841 c.531C>T c.(529-531)CTC>CTT p.L177L NM_014247 NP_055062 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor 2 177 cNMP. cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity lung(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) CAGTGATTCTCAATGGATCTG 0.398 NA 6 106 0 0 0.00308 0 0 CPE 1363 broad.mit.edu 37 4 166405735 166405735 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:166405735G>T uc003irg.3 + 5 1229 c.952G>T c.(952-954)GCT>TCT p.A318S NM_001873 NP_001864 P16870 CBPE_HUMAN carboxypeptidase E preproprotein 318 cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process extracellular region|nucleus|plasma membrane metallocarboxypeptidase activity|protein binding|zinc ion binding large_intestine(1)|ovary(1)|skin(1) 3 all_hematologic(180;0.221) Prostate(90;0.0962)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.137) Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CAACGGTGGTGCTTGGTACAG 0.453 NA 49 135 1.19451e-25 1.47544e-25 0.01441 1 0 PALLD 23022 broad.mit.edu 37 4 169433199 169433199 + Missense_Mutation SNP A A G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:169433199A>G uc011cjx.1 + 2 755 c.544A>G c.(544-546)ATA>GTA p.I182V PALLD_uc003iru.2_Missense_Mutation_p.I182V NM_016081 NP_057165 Q8WX93 PALLD_HUMAN palladin isoform 2 182 cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding ovary(1) 1 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) GCTAACATCCATATTTAAAGC 0.502 Esophageal Squamous(109;1482 1532 18347 40239 51172) NA Pancreatic_Cancer_Familial_Clustering_of 24 79 0 0 0.005443 0 0 MFAP3L 9848 broad.mit.edu 37 4 170912946 170912946 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:170912946C>T uc003isp.3 - 3 991 c.813G>A c.(811-813)GTG>GTA p.V271V MFAP3L_uc003isn.3_Silent_p.V168V NM_021647 NP_067679 O75121 MFA3L_HUMAN microfibrillar-associated protein 3-like isoform 271 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(1) 1 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116) GAGTATGCCTCACAAAATTCT 0.592 NA 23 47 0 0 0.005443 0 0 ASB5 140458 broad.mit.edu 37 4 177142365 177142365 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:177142365G>A uc003iuq.1 - 5 627 c.611C>T c.(610-612)CCT>CTT p.P204L ASB5_uc003iup.1_Missense_Mutation_p.P151L NM_080874 NP_543150 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box-containing protein 204 ANK 5. intracellular signal transduction skin(2) 2 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;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) TACATAGAGAGGAGTTCCCAA 0.413 NA 18 19 0 0 0.007413 0 0 KIAA0947 23379 broad.mit.edu 37 5 5473764 5473764 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:5473764G>A uc003jdm.3 + 16 6538 c.6316G>A c.(6316-6318)GGT>AGT p.G2106S NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 2106 ovary(1)|central_nervous_system(1) 2 TGAAAAATTTGGTGAAGACCT 0.398 NA 7 40 0 0 0.001984 0 0 TRIO 7204 broad.mit.edu 37 5 14291313 14291313 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:14291313G>A uc003jff.2 + 5 1035 c.1029G>A c.(1027-1029)AGG>AGA p.R343R TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Silent_p.R294R|TRIO_uc003jfh.1_5'Flank NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 343 Spectrin 1. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) TCCAGCTGAGGCTGTTTGAAC 0.587 NA 26 63 0 0 0.00333 0 0 CDH10 1008 broad.mit.edu 37 5 24509699 24509699 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:24509699G>T uc003jgr.1 - 7 1564 c.1232C>A c.(1231-1233)CCA>CAA p.P411Q CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 411 Cadherin 4.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) AATAGAATCTGGGTCCCTTGC 0.308 NA HNSCC(23;0.051) 13 88 8.60227e-14 1.0031e-13 0.004007 1 0 AGXT2 64902 broad.mit.edu 37 5 35037091 35037091 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:35037091C>G uc003jjf.2 - 4 521 c.442G>C c.(442-444)GAA>CAA p.E148Q AGXT2_uc011com.1_Missense_Mutation_p.E148Q|AGXT2_uc011con.1_Missense_Mutation_p.E56Q NM_031900 NP_114106 Q9BYV1 AGT2_HUMAN alanine-glyoxylate aminotransferase 2 precursor 148 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding ovary(3)|skin(1) 4 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) TCTGCATATTCATGCATTGGA 0.488 NA 8 75 0 0 0.008291 0 0 PRLR 5618 broad.mit.edu 37 5 35065601 35065601 + Missense_Mutation SNP C C T rs139147779 TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:35065601C>T uc003jjm.2 - 10 1989 c.1459G>A c.(1459-1461)GAC>AAC p.D487N PRLR_uc003jjg.1_Intron|PRLR_uc003jjh.1_Intron|PRLR_uc003jji.1_Intron|PRLR_uc003jjj.1_Intron|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Missense_Mutation_p.D386N NM_000949 NP_000940 P16471 PRLR_HUMAN prolactin receptor precursor 487 Cytoplasmic (Potential). activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity ovary(2)|skin(1) 3 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) GTATCCTGGTCAGTCTCAGAA 0.493 NA 19 120 0 0 0.008871 0 0 LIFR 3977 broad.mit.edu 37 5 38510737 38510737 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:38510737G>C uc010ive.1 - 7 1152 c.820C>G c.(820-822)CAA>GAA p.Q274E LIFR_uc003jli.2_Missense_Mutation_p.Q274E NM_001127671 NP_001121143 P42702 LIFR_HUMAN leukemia inhibitory factor receptor precursor 274 Extracellular (Potential). positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity ovary(3)|large_intestine(1) 4 all_lung(31;0.00021) ACTTTTTCTTGACTCACACAA 0.378 Melanoma(13;4 730 6426 9861 34751) NA T PLAG1 salivary adenoma 10 54 0 0 0.008291 0 0 PTGER4 5734 broad.mit.edu 37 5 40692198 40692198 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:40692198C>T uc003jlz.2 + 3 1777 c.1185C>T c.(1183-1185)CTC>CTT p.L395L NM_000958 NP_000949 P35408 PE2R4_HUMAN prostaglandin E receptor 4, subtype EP4 395 Cytoplasmic (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger|immune response integral to membrane|plasma membrane prostaglandin E receptor activity lung(2) 2 CTCAGACCCTCCTGCCAGACC 0.567 NA 21 49 0 0 0.00333 0 0 PRKAA1 5562 broad.mit.edu 37 5 40765169 40765169 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:40765169C>G uc003jmc.2 - 7 999 c.993G>C c.(991-993)TTG>TTC p.L331F PRKAA1_uc003jmb.2_Missense_Mutation_p.L346F NM_006251 NP_006242 Q13131 AAPK1_HUMAN protein kinase, AMP-activated, alpha 1 catalytic 331 activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia cytosol ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding breast(1) 1 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914) AGGCAACTGCCAAAGGATCCT 0.388 NA 16 122 0 0 0.004007 0 0 GHR 2690 broad.mit.edu 37 5 42718993 42718993 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:42718993G>A uc003jmt.2 + 10 1427 c.1384G>A c.(1384-1386)GAA>AAA p.E462K GHR_uc011cpq.1_Missense_Mutation_p.E275K NM_000163 NP_000154 P10912 GHR_HUMAN growth hormone receptor precursor 462 Cytoplasmic (Potential). 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding lung(4)|kidney(1)|skin(1) 6 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) ACTTCCTACTGAAGGAGCTGA 0.453 NA 18 75 0 0 0.006122 0 0 MRPS30 10884 broad.mit.edu 37 5 44809664 44809664 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:44809664C>T uc003joh.2 + 1 638 c.600C>T c.(598-600)CTC>CTT p.L200L MRPS30_uc003joi.1_5'Flank NM_016640 NP_057724 Q9NP92 RT30_HUMAN mitochondrial ribosomal protein S30 200 apoptosis|translation mitochondrion|ribosome structural constituent of ribosome 0 Lung NSC(6;8.08e-07) CTGCCGCCCTCGGTGAGCCTT 0.607 NA 10 61 0 0 0.013537 0 0 ITGA2 3673 broad.mit.edu 37 5 52362956 52362956 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:52362956G>C uc003joy.2 + 16 2095 c.1952G>C c.(1951-1953)AGT>ACT p.S651T ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.S575T|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA NM_002203 NP_002194 P17301 ITA2_HUMAN integrin alpha 2 precursor 651 FG-GAP 7.|Extracellular (Potential). axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity lung(1) 1 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) AGGTCACAAAGTATTGCTGAT 0.373 NA 9 46 0 0 0.006214 0 0 KIF2A 3796 broad.mit.edu 37 5 61651013 61651013 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:61651013G>A uc003jsy.3 + 7 897 c.586G>A c.(586-588)GAA>AAA p.E196K KIF2A_uc003jsz.3_Missense_Mutation_p.E196K|KIF2A_uc010iwp.2_Missense_Mutation_p.E177K|KIF2A_uc003jsx.3_Missense_Mutation_p.E176K|KIF2A_uc010iwq.2_5'UTR NM_004520 NP_004511 O00139 KIF2A_HUMAN kinesin heavy chain member 2 isoform 1 196 Globular (Potential). blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development centrosome|cytosol|microtubule|spindle pole ATP binding|microtubule motor activity|protein binding 0 Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077) Lung(70;0.14) CCCAAATTATGAAATTATGTG 0.299 NA 17 54 0 0 0.008871 0 0 MSH3 4437 broad.mit.edu 37 5 80171579 80171579 + Silent SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:80171579C>G uc003kgz.2 + 24 3565 c.3312C>G c.(3310-3312)CTC>CTG p.L1104L NM_002439 NP_002430 P20585 MSH3_HUMAN mutS homolog 3 1104 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding lung(2)|ovary(1)|breast(1) 4 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) GAAAGAGACTCAAGTATTTTG 0.363 Melanoma(88;1010 1399 13793 26548 36275) NA MMR 9 45 0 0 0.010729 0 0 VCAN 1462 broad.mit.edu 37 5 82786003 82786003 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:82786003C>A uc003kii.3 + 3 513 c.157C>A c.(157-159)CCA>ACA p.P53T VCAN_uc003kij.3_Missense_Mutation_p.P53T|VCAN_uc010jau.2_Missense_Mutation_p.P53T|VCAN_uc003kik.3_Missense_Mutation_p.P53T|VCAN_uc003kih.3_Missense_Mutation_p.P53T NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 53 Ig-like V-type. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GCCTACTTTGCCACCCAGTTA 0.453 NA 39 65 4.92203e-23 6.04602e-23 0.00623 1 0 CAST 831 broad.mit.edu 37 5 96093323 96093323 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:96093323G>A uc003klz.1 + 22 1711 c.1549G>A c.(1549-1551)GAG>AAG p.E517K CAST_uc003klt.2_Missense_Mutation_p.E504K|CAST_uc003klu.2_Missense_Mutation_p.E600K|CAST_uc003klv.2_Missense_Mutation_p.E578K|CAST_uc003klw.2_Missense_Mutation_p.E581K|CAST_uc003klx.2_Missense_Mutation_p.E559K|CAST_uc003kly.2_Missense_Mutation_p.E565K|CAST_uc011cuo.1_Missense_Mutation_p.E563K|CAST_uc011cur.1_Missense_Mutation_p.E503K|CAST_uc011cus.1_Missense_Mutation_p.E504K|CAST_uc003kma.1_Missense_Mutation_p.E476K|CAST_uc011cut.1_Missense_Mutation_p.E445K|CAST_uc003kmb.2_Missense_Mutation_p.E463K|CAST_uc003kmc.2_Missense_Mutation_p.E517K|CAST_uc003kmd.2_Missense_Mutation_p.E495K|CAST_uc003kme.2_Missense_Mutation_p.E476K|CAST_uc003kmf.2_Missense_Mutation_p.E482K|CAST_uc003kmh.2_Missense_Mutation_p.E232K|CAST_uc010jbj.2_Missense_Mutation_p.E232K|CAST_uc010jbk.2_Missense_Mutation_p.E232K|CAST_uc010jbl.1_Missense_Mutation_p.E240K|CAST_uc003kmi.2_RNA|CAST_uc003kmj.2_Missense_Mutation_p.E240K|CAST_uc003kmk.2_RNA NM_001042443 NP_001035908 P20810 ICAL_HUMAN calpastatin isoform i 517 calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding central_nervous_system(3)|ovary(1)|kidney(1) 5 all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;6.85e-15) TGCTTTGTCTGAGGACTTCTC 0.343 NA 12 59 0 0 0.001855 0 0 ALDH7A1 501 broad.mit.edu 37 5 125896781 125896781 + Missense_Mutation SNP T T C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:125896781T>C uc003ktx.2 - 10 1099 c.907A>G c.(907-909)ATT>GTT p.I303V ALDH7A1_uc003ktv.2_5'UTR|ALDH7A1_uc003kty.2_RNA|ALDH7A1_uc011cxa.1_Missense_Mutation_p.I330V NM_001182 NP_001173 P49419 AL7A1_HUMAN aldehyde dehydrogenase 7 family, member A1 303 cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound cytosol|mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity kidney(2)|ovary(1) 3 all_cancers(142;0.24)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109) NADH(DB00157)|Pyridoxine(DB00165) TTACCAATAATGGCATTGTTT 0.363 NA 17 100 0 0 0.006122 0 0 CTXN3 613212 broad.mit.edu 37 5 126993409 126993409 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:126993409G>C uc003kul.3 + 3 770 c.196G>C c.(196-198)GAT>CAT p.D66H CTXN3_uc003kum.3_Missense_Mutation_p.D66H NM_001048252 NP_001041717 Q4LDR2 CTXN3_HUMAN cortexin 3 66 integral to membrane 0 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0128)|COAD - Colon adenocarcinoma(49;0.0234)|OV - Ovarian serous cystadenocarcinoma(64;0.038) TACCTGGGCTGATGGACTTGA 0.488 NA 9 70 0 0 0.008291 0 0 SLC22A4 6583 broad.mit.edu 37 5 131630476 131630476 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:131630476C>G uc003kwq.2 + 1 332 c.167C>G c.(166-168)GCG>GGG p.A56G uc003kwm.3_Intron|SLC22A4_uc010jdq.1_5'Flank NM_003059 NP_003050 Q9H015 S22A4_HUMAN solute carrier family 22 member 4 56 Extracellular (Potential). body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity 0 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) CCGGACGCCGCGAACCTGAGC 0.682 NA 13 43 0 0 0.001855 0 0 PCDHA2 56146 broad.mit.edu 37 5 140175984 140175984 + Missense_Mutation SNP G G T rs17844250 TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:140175984G>T uc003lhd.2 + 1 1541 c.1435G>T c.(1435-1437)GCG>TCG p.A479S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.A479S|PCDHA2_uc011czy.1_Missense_Mutation_p.A479S NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 479 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACGGTGTCAGCGTGGGATGC 0.657 NA 41 69 7.05121e-23 8.62965e-23 0.010771 1 0 PCDHA5 56143 broad.mit.edu 37 5 140203212 140203212 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:140203212C>T uc003lhl.2 + 1 1852 c.1852C>T c.(1852-1854)CGC>TGC p.R618C PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.R618C|PCDHA5_uc003lhj.1_Missense_Mutation_p.R618C NM_018908 NP_061731 Q9Y5H7 PCDA5_HUMAN protocadherin alpha 5 isoform 1 precursor 618 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(1)|breast(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGCAGTGCGCGCATCCCGTT 0.652 NA 32 53 0 0 0.003755 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140736861 140736861 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:140736861C>T uc003ljq.1 + 1 2094 c.2094C>T c.(2092-2094)GCC>GCT p.A698A PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGB2_uc003ljs.1_5'Flank|PCDHGA4_uc003ljp.1_Silent_p.A698A|PCDHGB2_uc011dar.1_5'Flank NM_018917 NP_061740 Q9Y5G9 PCDG4_HUMAN protocadherin gamma subfamily A, 4 isoform 1 698 Helical; (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGCAGTGGCCGCTGTCTCCT 0.607 NA 16 29 0 0 0.007413 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140751042 140751042 + Nonsense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:140751042G>T uc003ljw.1 + 1 1081 c.1081G>T c.(1081-1083)GAG>TAG p.E361* 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|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Nonsense_Mutation_p.E361*|PCDHGA6_uc011dau.1_5'Flank NM_018924 NP_061747 Q9Y5G1 PCDGF_HUMAN protocadherin gamma subfamily B, 3 isoform 1 361 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAAGATGCTGAGCTGGGGAC 0.403 NA 8 15 5.18039e-06 5.5821e-06 0.00308 1 0 PCDHGA7 56108 broad.mit.edu 37 5 140764134 140764134 + Silent SNP T T C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:140764134T>C uc003lka.1 + 1 1668 c.1668T>C c.(1666-1668)AAT>AAC p.N556N PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Silent_p.N556N NM_018920 NP_061743 Q9Y5G6 PCDG7_HUMAN protocadherin gamma subfamily A, 7 isoform 1 556 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGACCAGAATGACAACCCGC 0.602 NA 34 111 0 0 0.004878 0 0 NR3C1 2908 broad.mit.edu 37 5 142779799 142779799 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:142779799C>T uc003lmz.2 - 2 1098 c.606G>A c.(604-606)GGG>GGA p.G202G NR3C1_uc003lmy.2_Silent_p.G202G|NR3C1_uc003lna.2_Silent_p.G202G|NR3C1_uc003lnb.2_Silent_p.G202G|NR3C1_uc011dbk.1_Intron|NR3C1_uc003lnc.2_Silent_p.G202G|NR3C1_uc003lnd.2_Silent_p.G202G|NR3C1_uc003lne.2_Silent_p.G202G|NR3C1_uc003lnf.2_Silent_p.G202G|NR3C1_uc003lng.2_Silent_p.G202G|NR3C1_uc003lnh.2_Silent_p.G202G|NR3C1_uc003lni.2_Silent_p.G202G NM_000176 NP_000167 P04150 GCR_HUMAN glucocorticoid receptor isoform alpha 202 Modulating. chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter mitochondrial matrix|nucleoplasm glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding ovary(2) 2 Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635) TACCTGGGGACCCAGAAGAAA 0.463 NA 9 42 0 0 0.006214 0 0 JAKMIP2 9832 broad.mit.edu 37 5 146997621 146997621 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:146997621G>C uc003loq.1 - 19 2581 c.2199C>G c.(2197-2199)ATC>ATG p.I733M JAKMIP2_uc011dbx.1_Missense_Mutation_p.I691M|JAKMIP2_uc003lor.1_Missense_Mutation_p.I712M|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Missense_Mutation_p.I733M NM_014790 NP_055605 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 733 Potential. Golgi apparatus large_intestine(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACCAAACTTGATAACAGTTT 0.403 NA 33 54 0 0 0.00623 0 0 SYNPO 11346 broad.mit.edu 37 5 150028936 150028936 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:150028936C>T uc003lsn.2 + 3 2205 c.1831C>T c.(1831-1833)CTG>TTG p.L611L SYNPO_uc003lso.3_Silent_p.L367L|SYNPO_uc003lsp.2_Silent_p.L367L NM_001109974 NP_001103444 Q8N3V7 SYNPO_HUMAN synaptopodin isoform B 611 positive regulation of actin filament bundle assembly|regulation of stress fiber assembly actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction actin binding|protein binding large_intestine(1) 1 Medulloblastoma(196;0.134)|all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GACGGGCATTCTGGAGGAGTC 0.582 NA 13 75 0 0 0.004007 0 0 PANK3 79646 broad.mit.edu 37 5 167993025 167993025 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:167993025C>A uc003lzz.1 - 3 928 c.628G>T c.(628-630)GGG>TGG p.G210W NM_024594 NP_078870 Q9H999 PANK3_HUMAN pantothenate kinase 3 210 coenzyme A biosynthetic process cytoplasm|nucleus ATP binding|pantothenate kinase activity ovary(1) 1 Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188) TACCTTGTCCCAGTCACTCGT 0.368 NA 46 80 8.72198e-27 1.08133e-26 0.01441 1 0 SLIT3 6586 broad.mit.edu 37 5 168233492 168233492 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:168233492C>G uc003mab.2 - 9 1314 c.894G>C c.(892-894)TTG>TTC p.L298F SLIT3_uc010jjg.2_Missense_Mutation_p.L298F|SLIT3_uc010jji.2_Missense_Mutation_p.L298F|SLIT3_uc003mac.1_Missense_Mutation_p.L95F NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 298 LRRNT 2. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GAATCTCCATCAAGCCCTTTC 0.587 Ovarian(29;311 847 10864 17279 24903) NA 16 68 0 0 0.007413 0 0 DDX41 51428 broad.mit.edu 37 5 176939118 176939118 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:176939118C>G uc003mho.2 - 16 1732 c.1711G>C c.(1711-1713)GAG>CAG p.E571Q DOK3_uc003mhi.3_5'Flank|DOK3_uc003mhj.3_5'Flank|DOK3_uc003mhk.2_5'Flank|DOK3_uc003mhl.2_5'Flank|DDX41_uc003mhm.2_Missense_Mutation_p.E351Q|DDX41_uc003mhn.2_Missense_Mutation_p.E440Q|DDX41_uc003mhp.2_Missense_Mutation_p.E440Q NM_016222 NP_057306 Q9UJV9 DDX41_HUMAN DEAD-box protein abstrakt 571 apoptosis|multicellular organismal development catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding 0 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) 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)|Epithelial(233;0.191) AGCATGGACTCATCCCCGCAA 0.617 NA 19 97 0 0 0.012319 0 0 DUSP22 56940 broad.mit.edu 37 6 348125 348125 + Missense_Mutation SNP G G A rs138056339 byFrequency TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:348125G>A uc003msx.2 + 6 725 c.286G>A c.(286-288)GTG>ATG p.V96M DUSP22_uc011dhn.1_Missense_Mutation_p.V96M|DUSP22_uc003msy.1_Missense_Mutation_p.V53M NM_020185 NP_064570 Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 96 Tyrosine-protein phosphatase. apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1)|kidney(1)|central_nervous_system(1) 3 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) CTCCAGGAGCGTGACACTGGT 0.612 NA 22 192 0 0 0.012319 0 0 DSP 1832 broad.mit.edu 37 6 7583579 7583579 + Silent SNP A A G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:7583579A>G uc003mxp.1 + 24 6363 c.6084A>G c.(6082-6084)AAA>AAG p.K2028K DSP_uc003mxq.1_Silent_p.K1429K NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 2028 Plectin 1.|Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CTAAGGAAAAATACTCTTTGG 0.483 NA 28 38 0 0 0.005443 0 0 HIVEP1 3096 broad.mit.edu 37 6 12123906 12123906 + Nonsense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:12123906C>G uc003nac.2 + 4 4057 c.3878C>G c.(3877-3879)TCA>TGA p.S1293* HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 1293 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) GAACATTCCTCAACAGAATCG 0.458 NA 9 90 0 0 0.006214 0 0 JARID2 3720 broad.mit.edu 37 6 15517468 15517468 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:15517468G>A uc003nbj.2 + 17 3771 c.3527G>A c.(3526-3528)CGA>CAA p.R1176Q JARID2_uc011div.1_Missense_Mutation_p.R1004Q NM_004973 NP_004964 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 protein 1176 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding ovary(2)|lung(1)|pancreas(1) 4 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) AAGTCCTGCCGAGGGCTGAAG 0.617 NA 20 103 0 0 0.012319 0 0 HIST1H2BF 8343 broad.mit.edu 37 6 26199818 26199818 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:26199818C>T uc003ngx.2 + 1 32 c.32C>T c.(31-33)CCA>CTA p.P11L HIST1H3D_uc003ngv.2_5'Flank|HIST1H2AD_uc003ngw.2_5'Flank NM_003522 NP_003513 P62807 H2B1C_HUMAN histone cluster 1, H2bf 11 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding 0 all_hematologic(11;0.196) GCTCCTGCTCCAAAAAAGGGC 0.488 NA 44 85 0 0 0.009718 0 0 GPX5 2880 broad.mit.edu 37 6 28500165 28500165 + Nonsense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:28500165G>T uc003nll.2 + 4 429 c.427G>T c.(427-429)GAA>TAA p.E143* GPX5_uc003nlm.2_3'UTR|GPX5_uc003nln.2_RNA NM_001509 NP_001500 O75715 GPX5_HUMAN glutathione peroxidase 5 isoform 1 precursor 143 lipid metabolic process|response to oxidative stress extracellular region glutathione peroxidase activity skin(1) 1 Glutathione(DB00143) TGTGAATGGTGAAAAAGAACA 0.443 NA 52 57 4.45325e-31 5.57283e-31 0.01441 1 0 OR12D3 81797 broad.mit.edu 37 6 29342268 29342268 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:29342268G>C uc003nme.2 - 1 801 c.797C>G c.(796-798)TCC>TGC p.S266C NM_030959 NP_112221 Q9UGF7 O12D3_HUMAN olfactory receptor, family 12, subfamily D, 266 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1) 3 CTGAATCATGGAGGTGGCTGA 0.483 NA 8 69 0 0 0.004482 0 0 HLA-J 3137 broad.mit.edu 37 6 29977359 29977359 + Missense_Mutation SNP G G A rs146982767 by1000genomes TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:29977359G>A uc003rtl.3 + 5 740 c.378G>A c.(376-378)ATG>ATA p.M126I HLA-G_uc011dmb.1_3'UTR|NCRNA00171_uc011dme.1_Intron|HLA-J_uc003nou.3_RNA|HLA-J_uc003nov.3_RNA Homo sapiens major histocompatibility complex, class I, J (pseudogene), mRNA (cDNA clone IMAGE:4694038). 0 ATTTGTTCATGCCTTCCCTTT 0.453 NA 8 60 0 0 0.00308 0 0 GTF2H4 2968 broad.mit.edu 37 6 30880223 30880223 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:30880223C>T uc003nsa.1 + 11 1284 c.1077C>T c.(1075-1077)ATC>ATT p.I359I GTF2H4_uc003nsb.1_Silent_p.I197I|GTF2H4_uc011dmw.1_Silent_p.I365I|VARS2_uc003nsc.1_5'Flank|VARS2_uc003nsd.2_5'Flank|VARS2_uc011dmx.1_5'Flank|VARS2_uc011dmy.1_5'Flank|VARS2_uc011dmz.1_5'Flank|VARS2_uc011dna.1_5'Flank|VARS2_uc011dnb.1_5'Flank|VARS2_uc011dnc.1_5'Flank NM_001517 NP_001508 Q92759 TF2H4_HUMAN general transcription factor IIH, polypeptide 4, 359 mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|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|viral reproduction holo TFIIH complex protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|breast(1) 3 CCAGTGGCATCACAGCCCAGC 0.602 NA NER 33 72 0 0 0.003755 0 0 BAT5 7920 broad.mit.edu 37 6 31671053 31671053 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:31671053C>T uc003nvy.1 - 1 36 c.6G>A c.(4-6)GCG>GCA p.A2A BAT5_uc003nvx.1_5'Flank|BAT5_uc011dny.1_5'Flank|BAT5_uc003nvz.1_5'UTR|BAT5_uc011dnz.1_Intron|BAT5_uc010jtc.1_RNA|BAT5_uc011doa.1_5'UTR NM_021160 NP_066983 O95870 ABHGA_HUMAN HLA-B associated transcript 5 2 integral to membrane hydrolase activity|protein binding 0 TCAGCAGCTTCGCCATGGCCC 0.692 NA 6 39 0 0 0.001168 0 0 RXRB 6257 broad.mit.edu 37 6 33164323 33164323 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:33164323C>G uc003odb.2 - 5 1060 c.881G>C c.(880-882)GGA>GCA p.G294A RXRB_uc003odc.2_Missense_Mutation_p.G294A|RXRB_uc003odd.2_Missense_Mutation_p.G198A|RXRB_uc011dqr.1_Missense_Mutation_p.G104A|RXRB_uc011dqs.1_Missense_Mutation_p.G177A|RXRB_uc003ode.1_Missense_Mutation_p.G158A|RXRB_uc011dqt.1_Missense_Mutation_p.G294A|RXRB_uc011dqu.1_Missense_Mutation_p.G198A NM_021976 NP_068811 P28702 RXRB_HUMAN retinoid X receptor, beta 294 Hinge. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding ovary(3) 3 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) CTCGGGGGCTCCCCCAGCCCC 0.632 NA 18 105 0 0 0.007413 0 0 KIFC1 3833 broad.mit.edu 37 6 33373380 33373380 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:33373380G>A uc003oef.3 + 7 1958 c.1508G>A c.(1507-1509)CGA>CAA p.R503Q KIFC1_uc011drf.1_Missense_Mutation_p.R495Q NM_002263 NP_002254 Q9BW19 KIFC1_HUMAN kinesin family member C1 503 Kinesin-motor. blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity 0 ACCAATGCTCGATATGTCCCT 0.612 NA 6 26 0 0 0.001168 0 0 PHF1 5252 broad.mit.edu 37 6 33382112 33382112 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:33382112C>G uc003oeh.2 + 9 1081 c.845C>G c.(844-846)TCT>TGT p.S282C PHF1_uc011drh.1_RNA|PHF1_uc003oei.2_Missense_Mutation_p.S282C|PHF1_uc010jux.2_Missense_Mutation_p.S82C NM_024165 NP_077084 O43189 PHF1_HUMAN PHD finger protein 1 isoform b 282 chromatin modification nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Ovarian(999;0.0443) CCCTTCACTTCTGAGAATTGG 0.493 NA OREG0017346 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 88 0 0 0.000602 0 0 MAPK13 5603 broad.mit.edu 37 6 36099123 36099123 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:36099123C>T uc003ols.2 + 2 293 c.195C>T c.(193-195)TTC>TTT p.F65F MAPK13_uc003olt.2_RNA NM_002754 NP_002745 O15264 MK13_HUMAN mitogen-activated protein kinase 13 65 Protein kinase. cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress ATP binding|MAP kinase activity|protein binding breast(2)|central_nervous_system(1) 3 CCGAGATCTTCGCCAAGCGCG 0.662 NA 14 92 0 0 0.00499 0 0 C6orf89 221477 broad.mit.edu 37 6 36867275 36867275 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:36867275G>T uc003omx.2 + 3 339 c.55G>T c.(55-57)GAT>TAT p.D19Y C6orf89_uc003omv.2_5'UTR|C6orf89_uc003omw.2_Missense_Mutation_p.D26Y|C6orf89_uc011dtr.1_5'UTR NM_152734 NP_689947 Q6UWU4 CF089_HUMAN hypothetical protein LOC221477 19 integral to membrane ovary(1) 1 AGAGACTGTTGATTTGGTGAG 0.433 NA 22 111 5.45024e-15 6.44559e-15 0.00333 1 0 MDGA1 266727 broad.mit.edu 37 6 37622594 37622594 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:37622594G>A uc003onu.1 - 5 1873 c.694C>T c.(694-696)CGG>TGG p.R232W MDGA1_uc003onw.3_5'Flank NM_153487 NP_705691 Q8NFP4 MDGA1_HUMAN MAM domain containing 232 brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2) 2 TTGGTGAGCCGGAAGGTGATG 0.592 NA 58 153 0 0 0.01441 0 0 BTBD9 114781 broad.mit.edu 37 6 38545402 38545402 + Missense_Mutation SNP T T A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:38545402T>A uc003ooa.3 - 7 1704 c.1128A>T c.(1126-1128)AAA>AAT p.K376N BTBD9_uc003ony.3_Missense_Mutation_p.K308N|BTBD9_uc010jwv.2_Missense_Mutation_p.K308N|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Missense_Mutation_p.K376N NM_052893 NP_443125 Q96Q07 BTBD9_HUMAN BTB (POZ) domain containing 9 isoform a 376 cell adhesion 0 GAAAATATAATTTCTGCCAAG 0.368 NA 17 79 0 0 0.008871 0 0 CUL7 9820 broad.mit.edu 37 6 43019473 43019473 + Silent SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:43019473C>G uc003otq.2 - 3 912 c.609G>C c.(607-609)CTG>CTC p.L203L CUL7_uc011dvb.1_Silent_p.L287L|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron NM_014780 NP_055595 Q14999 CUL7_HUMAN cullin 7 203 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding ovary(3)|kidney(1) 4 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) CTTGTTGGCTCAGTGACAGAA 0.512 NA 12 164 0 0 0.001855 0 0 CUL9 23113 broad.mit.edu 37 6 43174229 43174229 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:43174229C>T uc003ouk.2 + 26 5268 c.5193C>T c.(5191-5193)TTC>TTT p.F1731F CUL9_uc003oul.2_Silent_p.F1731F|CUL9_uc010jyk.2_Silent_p.F883F NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 1731 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1) 12 TTGACCGTTTCTCCAGTTTCT 0.552 NA 5 95 0 0 0.001168 0 0 ABCC10 89845 broad.mit.edu 37 6 43411937 43411937 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:43411937G>T uc003ouy.1 + 12 2750 c.2535G>T c.(2533-2535)GAG>GAT p.E845D ABCC10_uc003ouz.1_Missense_Mutation_p.E817D|ABCC10_uc010jyo.1_Translation_Start_Site NM_033450 NP_258261 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C, member 10 845 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(6)|central_nervous_system(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) AAACAAAGGAGGGGCTGGAGG 0.552 NA 10 23 7.48243e-07 8.14157e-07 0.006214 1 0 SUPT3H 8464 broad.mit.edu 37 6 44900479 44900479 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:44900479C>G uc003oxo.2 - 12 1174 c.856G>C c.(856-858)GAG>CAG p.E286Q SUPT3H_uc003oxn.1_Missense_Mutation_p.E275Q|SUPT3H_uc011dvv.1_Missense_Mutation_p.E123Q|SUPT3H_uc003oxp.2_Missense_Mutation_p.E275Q|SUPT3H_uc011dvw.1_Missense_Mutation_p.E189Q NM_181356 NP_852001 O75486 SUPT3_HUMAN suppressor of Ty 3 homolog isoform 2 357 histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent STAGA complex|transcription factor TFTC complex DNA binding|transcription coactivator activity ovary(2)|breast(1) 3 CTGTGAGCCTCAACACCACAG 0.453 NA 5 35 0 0 0.000602 0 0 GPR116 221395 broad.mit.edu 37 6 46851846 46851846 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:46851846C>A uc003oyo.3 - 5 780 c.491G>T c.(490-492)TGC>TTC p.C164F GPR116_uc003oyp.3_Missense_Mutation_p.C164F|GPR116_uc003oyq.3_Missense_Mutation_p.C164F|GPR116_uc003oyr.2_Missense_Mutation_p.C164F NM_001098518 NP_001091988 Q8IZF2 GP116_HUMAN G-protein coupled receptor 116 precursor 164 SEA.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|skin(1) 2 Lung(136;0.192) CTGAAGCAGGCAAAAAGGTCC 0.383 NSCLC(59;410 1274 8751 36715 50546) NA 40 91 1.22674e-20 1.48232e-20 0.00874 1 0 BMP5 653 broad.mit.edu 37 6 55638877 55638877 + Nonsense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:55638877G>A uc003pcq.2 - 4 1709 c.997C>T c.(997-999)CAG>TAG p.Q333* BMP5_uc011dxf.1_Nonsense_Mutation_p.Q333* NM_021073 NP_066551 P22003 BMP5_HUMAN bone morphogenetic protein 5 preproprotein 333 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity ovary(2) 2 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) GAGGAGTCCTGATGAGAGCTG 0.468 NA 11 70 0 0 0.010729 0 0 COL9A1 1297 broad.mit.edu 37 6 70935635 70935635 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:70935635C>A uc003pfg.3 - 37 2740 c.2581G>T c.(2581-2583)GGT>TGT p.G861C COL9A1_uc003pfe.3_Missense_Mutation_p.G410C|COL9A1_uc003pff.3_Missense_Mutation_p.G618C NM_001851 NP_001842 P20849 CO9A1_HUMAN alpha 1 type IX collagen isoform 1 precursor 861 Triple-helical region (COL1). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding ovary(4) 4 ACACACTTACCTGGGAGACCT 0.433 NA 37 54 6.68952e-21 8.09784e-21 0.013114 1 0 COL9A1 1297 broad.mit.edu 37 6 70964208 70964208 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:70964208G>A uc003pfg.3 - 25 1849 c.1690C>T c.(1690-1692)CCT>TCT p.P564S COL9A1_uc003pfe.3_Missense_Mutation_p.P137S|COL9A1_uc003pff.3_Missense_Mutation_p.P321S NM_001851 NP_001842 P20849 CO9A1_HUMAN alpha 1 type IX collagen isoform 1 precursor 564 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding ovary(4) 4 GCATCACCAGGAGGCCCAGGT 0.388 NA 17 67 0 0 0.010504 0 0 COL12A1 1303 broad.mit.edu 37 6 75804895 75804895 + Nonsense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:75804895C>A uc003phs.2 - 60 8744 c.8578G>T c.(8578-8580)GGA>TGA p.G2860* COL12A1_uc003pht.2_Nonsense_Mutation_p.G1696* NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 2860 Triple-helical region (COL2) with 1 imperfection. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 CCTGGGCTTCCCTACAACACA 0.473 NA 17 32 2.4624e-09 2.75574e-09 0.008871 1 0 SYNCRIP 10492 broad.mit.edu 37 6 86351130 86351130 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:86351130C>T uc003pla.2 - 2 569 c.28G>A c.(28-30)GGT>AGT p.G10S SYNCRIP_uc003pku.2_Missense_Mutation_p.G10S|SYNCRIP_uc003pkw.2_Missense_Mutation_p.G10S|SYNCRIP_uc003pky.2_Intron|SYNCRIP_uc003pkv.2_Missense_Mutation_p.G10S|SYNCRIP_uc003pkx.2_Intron|SYNCRIP_uc003pkz.2_Missense_Mutation_p.G10S NM_006372 NP_006363 O60506 HNRPQ_HUMAN synaptotagmin binding, cytoplasmic RNA 10 CRD-mediated mRNA stabilization|interspecies interaction between organisms catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm nucleotide binding|protein binding ovary(2) 2 all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297) BRCA - Breast invasive adenocarcinoma(108;0.0389) TCTTCAGTACCATTTCCATTA 0.358 NA 12 47 0 0 0.003163 0 0 GABRR1 2569 broad.mit.edu 37 6 89907945 89907945 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:89907945G>A uc003pna.2 - 5 821 c.366C>T c.(364-366)CTC>CTT p.L122L GABRR1_uc011dzv.1_Silent_p.L99L NM_002042 NP_002033 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) receptor, rho 1 122 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) GCCTCAGGTAGAGGGTCATCG 0.557 NA 45 165 0 0 0.013114 0 0 LYRM2 57226 broad.mit.edu 37 6 90348409 90348409 + Silent SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:90348409C>A uc003pnm.2 - 1 66 c.27G>T c.(25-27)GCG>GCT p.A9A LYRM2_uc010kce.1_5'Flank|LYRM2_uc003png.2_RNA|LYRM2_uc010kcf.1_5'Flank|LYRM2_uc010kcg.2_5'Flank|LYRM2_uc003pnl.3_5'Flank NM_020466 NP_065199 Q9NU23 LYRM2_HUMAN LYR motif containing 2 9 0 all_cancers(76;2.76e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;3.72e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0131) ACGTTAGCGTCGCTGGGGGTA 0.637 NA 29 139 4.31634e-10 4.86317e-10 0.012213 1 0 MAP3K7 6885 broad.mit.edu 37 6 91281451 91281451 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:91281451C>G uc003pnz.1 - 2 358 c.196G>C c.(196-198)GAA>CAA p.E66Q MAP3K7_uc003poa.1_Missense_Mutation_p.E66Q|MAP3K7_uc003pob.1_Missense_Mutation_p.E66Q|MAP3K7_uc003poc.1_Missense_Mutation_p.E66Q NM_145331 NP_663304 O43318 M3K7_HUMAN mitogen-activated protein kinase kinase kinase 7 66 Protein kinase. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1) 6 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) GATTCACTTTCTATTTGTTTA 0.318 NA 8 57 0 0 0.008291 0 0 SIM1 6492 broad.mit.edu 37 6 100838702 100838702 + Silent SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:100838702G>T uc003pqj.3 - 11 2043 c.1836C>A c.(1834-1836)CCC>CCA p.P612P SIM1_uc010kcu.2_Silent_p.P612P NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 612 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) CTGTTGGTGGGGGCTGTTGGT 0.498 NA 37 62 2.42023e-17 2.88783e-17 0.003271 1 0 SIM1 6492 broad.mit.edu 37 6 100841691 100841691 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:100841691C>T uc003pqj.3 - 10 1449 c.1242G>A c.(1240-1242)ACG>ACA p.T414T SIM1_uc010kcu.2_Silent_p.T414T NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 414 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) GCGGAGAGGCCGTGTCGGTCA 0.577 NA 18 36 0 0 0.006122 0 0 TRAF3IP2 10758 broad.mit.edu 37 6 111896952 111896952 + Silent SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:111896952C>G uc011ebc.1 - 5 1710 c.1095G>C c.(1093-1095)CTG>CTC p.L365L TRAF3IP2_uc003pvd.2_5'Flank|TRAF3IP2_uc003pvg.2_Silent_p.L365L|TRAF3IP2_uc003pvf.2_Silent_p.L365L|TRAF3IP2_uc010kdw.2_Silent_p.L365L|TRAF3IP2_uc010kdx.2_Silent_p.L365L NM_147686 NP_679211 O43734 CIKS_HUMAN TRAF3 interacting protein 2 isoform 2 374 intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular ovary(2)|central_nervous_system(1) 3 all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732) CCTGTGGTCTCAGCTCTGCAG 0.547 NA 10 54 0 0 0.010729 0 0 ROS1 6098 broad.mit.edu 37 6 117632184 117632184 + Missense_Mutation SNP T T A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:117632184T>A uc003pxp.1 - 39 6431 c.6232A>T c.(6232-6234)AGG>TGG p.R2078W ROS1_uc011ebi.1_RNA NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 2078 Protein kinase.|Cytoplasmic (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GAATTGTACCTGTGAATGAAA 0.383 NA T GOPC|ROS1 glioblastoma|NSCLC 31 42 0 0 0.010818 0 0 MYB 4602 broad.mit.edu 37 6 135511330 135511330 + Silent SNP G G T rs139729764 TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:135511330G>T uc003qfc.2 + 5 571 c.372G>T c.(370-372)GGG>GGT p.G124G MYB_uc003qfh.2_Silent_p.G124G|MYB_uc003qfi.2_Silent_p.G124G|MYB_uc010kgi.2_Silent_p.G124G|MYB_uc003qfq.2_Silent_p.G124G|MYB_uc010kgj.2_Silent_p.G124G|MYB_uc003qfo.2_Silent_p.G124G|MYB_uc003qfu.2_Silent_p.G124G|MYB_uc003qfl.2_RNA|MYB_uc003qfv.2_RNA|MYB_uc003qfz.2_RNA|MYB_uc003qfx.2_RNA|MYB_uc003qga.2_RNA|MYB_uc003qgb.2_RNA|MYB_uc010kgk.2_RNA|MYB_uc003qfd.2_RNA|MYB_uc003qfe.2_RNA|MYB_uc003qfg.2_RNA|MYB_uc003qff.2_RNA|MYB_uc003qfj.2_RNA|MYB_uc003qfm.2_RNA|MYB_uc003qfp.2_RNA|MYB_uc003qfn.2_RNA|MYB_uc003qfk.2_RNA|MYB_uc003qfr.2_RNA|MYB_uc003qfs.2_Intron|MYB_uc003qft.2_RNA|MYB_uc003qfw.2_Intron|MYB_uc003qfy.2_RNA|MYB_uc003qgc.2_RNA|MYB_uc003qfb.1_Silent_p.G124G|MYB_uc003qgd.1_5'UTR NM_005375 NP_005366 P10242 MYB_HUMAN v-myb myeloblastosis viral oncogene homolog 124 HTH myb-type 2.|Interaction with HIPK2 and NLK (By similarity).|H-T-H motif (By similarity). blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear matrix DNA binding|protein binding lung(1) 1 all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221) Lung NSC(302;3.08e-05)|Ovarian(999;0.208) OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117) ACTTAAAGGGGAGAATTGGAA 0.398 NA T NFIB adenoid cystic carcinoma 7 92 5.18039e-06 5.5821e-06 0.00308 1 0 MAP3K5 4217 broad.mit.edu 37 6 136977581 136977581 + Missense_Mutation SNP A A G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:136977581A>G uc003qhc.2 - 10 1905 c.1544T>C c.(1543-1545)GTA>GCA p.V515A MAP3K5_uc011edj.1_5'UTR|MAP3K5_uc011edk.1_Missense_Mutation_p.V360A|MAP3K5_uc010kgw.1_Missense_Mutation_p.V515A NM_005923 NP_005914 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 515 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding ovary(2)|skin(2)|lung(1) 5 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) AATTGTCTCTACAATAGACTT 0.383 NA 35 98 0 0 0.013726 0 0 HECA 51696 broad.mit.edu 37 6 139488428 139488428 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:139488428G>A uc003qin.2 + 2 1564 c.1279G>A c.(1279-1281)GAG>AAG p.E427K NM_016217 NP_057301 Q9UBI9 HDC_HUMAN headcase 427 respiratory tube development 0 GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387) GAGACATGATGAGATCGAATA 0.463 NA 16 57 0 0 0.003163 0 0 GRM1 2911 broad.mit.edu 37 6 146755353 146755353 + Silent SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:146755353C>A uc010khw.1 + 9 3476 c.3006C>A c.(3004-3006)CTC>CTA p.L1002L GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 1002 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) AGACCCCCCTCTTCCTGGCCG 0.687 NA 50 79 3.19069e-20 3.84844e-20 0.01441 1 0 NUP43 348995 broad.mit.edu 37 6 150048227 150048227 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:150048227C>G uc003qmz.2 - 8 1078 c.1021G>C c.(1021-1023)GAA>CAA p.E341Q NUP43_uc003qmx.3_RNA|NUP43_uc011eee.1_RNA|NUP43_uc011eef.1_Missense_Mutation_p.E245Q NM_198887 NP_942590 Q8NFH3 NUP43_HUMAN nucleoporin 43kDa 341 carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding upper_aerodigestive_tract(1) 1 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101) CTTGTGATTTCAATTCGGTCT 0.418 NA 10 68 0 0 0.008291 0 0 C6orf97 80129 broad.mit.edu 37 6 151907150 151907150 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:151907150C>G uc003qol.2 + 7 1308 c.1219C>G c.(1219-1221)CAG>GAG p.Q407E NM_025059 NP_079335 Q8IYT3 CF097_HUMAN hypothetical protein LOC80129 407 Potential. 0 Ovarian(120;0.126) BRCA - Breast invasive adenocarcinoma(37;0.111) OV - Ovarian serous cystadenocarcinoma(155;1.48e-10) TCTTCAGGGTCAGCTGACACA 0.483 NA 10 40 0 0 0.001855 0 0 SYNE1 23345 broad.mit.edu 37 6 152668219 152668219 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:152668219G>A uc010kiw.2 - 73 12655 c.12053C>T c.(12052-12054)TCA>TTA p.S4018L SYNE1_uc003qot.3_Missense_Mutation_p.S3947L|SYNE1_uc003qou.3_Missense_Mutation_p.S4018L|SYNE1_uc010kja.1_Missense_Mutation_p.S723L NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4018 Spectrin 10.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GCAGATCGCTGAGTAGCTGTC 0.488 NA HNSCC(10;0.0054) 8 52 0 0 0.00308 0 0 SYNE1 23345 broad.mit.edu 37 6 152763354 152763354 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:152763354C>G uc010kiw.2 - 31 4466 c.3864G>C c.(3862-3864)AAG>AAC p.K1288N SYNE1_uc003qot.3_Missense_Mutation_p.K1295N|SYNE1_uc003qou.3_Missense_Mutation_p.K1288N|SYNE1_uc010kjb.1_Missense_Mutation_p.K1271N|SYNE1_uc003qow.2_Missense_Mutation_p.K583N|SYNE1_uc003qox.1_Missense_Mutation_p.K804N NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1288 Potential.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CATCTCTCTTCTTTGCTGAGA 0.532 NA HNSCC(10;0.0054) 11 76 0 0 0.010729 0 0 FBXO5 26271 broad.mit.edu 37 6 153296150 153296150 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:153296150C>G uc003qpg.2 - 2 819 c.710G>C c.(709-711)AGA>ACA p.R237T FBXO5_uc003qph.2_Missense_Mutation_p.R191T NM_012177 NP_036309 Q9UKT4 FBX5_HUMAN F-box only protein 5 isoform a 237 Interaction with EVI5. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|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 mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol|nucleoplasm|spindle metal ion binding|protein binding 0 Ovarian(120;0.125) OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893) GCCCATTTTTCTGCCAATTAT 0.383 NSCLC(121;372 1757 17721 17977 29669) NA 7 102 0 0 0.00308 0 0 TULP4 56995 broad.mit.edu 37 6 158914615 158914615 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:158914615G>C uc003qrf.2 + 10 2999 c.1642G>C c.(1642-1644)GAG>CAG p.E548Q TULP4_uc003qrg.2_Missense_Mutation_p.E548Q NM_020245 NP_064630 Q9NRJ4 TULP4_HUMAN tubby like protein 4 isoform 1 548 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) GATCAGCATTGAGGCCCGCAA 0.657 NA 12 70 0 0 0.010729 0 0 SLC22A3 6581 broad.mit.edu 37 6 160819028 160819028 + Silent SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:160819028C>G uc003qti.2 + 2 474 c.447C>G c.(445-447)GTC>GTG p.V149V SLC22A3_uc011efx.1_RNA NM_021977 NP_068812 O75751 S22A3_HUMAN solute carrier family 22 member 3 149 integral to plasma membrane|membrane fraction protein binding|quaternary ammonium group transmembrane transporter activity skin(2)|ovary(1)|central_nervous_system(1) 4 Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218) OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06) TTGTCTGTGTCAATGCGTGGA 0.443 NA 22 139 0 0 0.003954 0 0 PACRG 135138 broad.mit.edu 37 6 163235198 163235198 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:163235198C>A uc003qua.2 + 3 400 c.176C>A c.(175-177)GCA>GAA p.A59E PACRG_uc003qub.2_Missense_Mutation_p.A59E|PACRG_uc003quc.2_Missense_Mutation_p.A59E NM_152410 NP_689623 Q96M98 PACRG_HUMAN parkin co-regulated gene protein isoform 1 59 0 Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203) OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242) CCTCCAGCTGCAGGGGCATTT 0.378 NA 27 93 4.22769e-11 4.83683e-11 0.00632 1 0 FRMD1 79981 broad.mit.edu 37 6 168468049 168468049 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:168468049C>G uc003qwo.3 - 3 447 c.382G>C c.(382-384)GAA>CAA p.E128Q FRMD1_uc003qwm.3_5'Flank|FRMD1_uc011egs.1_5'UTR|FRMD1_uc011egt.1_Missense_Mutation_p.E40Q|FRMD1_uc003qwn.3_Missense_Mutation_p.E60Q NM_024919 NP_079195 Q8N878 FRMD1_HUMAN FERM domain containing 1 isoform 1 128 FERM. cytoskeleton binding ovary(1) 1 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) ACACTTACTTCATTTCTTTCT 0.512 GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015) NA 8 47 0 0 0.00308 0 0 SMOC2 64094 broad.mit.edu 37 6 168927058 168927058 + Missense_Mutation SNP A A T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:168927058A>T uc003qws.1 + 3 309 c.289A>T c.(289-291)ACC>TCC p.T97S SMOC2_uc003qwr.1_Missense_Mutation_p.T97S NM_022138 NP_071421 Q9H3U7 SMOC2_HUMAN SPARC related modular calcium binding 2 97 Thyroglobulin type-1 1. signal transduction basement membrane calcium ion binding ovary(1) 1 Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231) OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109) AAGGAAGTATACCCAGGAGCA 0.512 NA 25 55 0 0 0.010818 0 0 SDK1 221935 broad.mit.edu 37 7 4277383 4277383 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:4277383G>T uc003smx.2 + 42 6236 c.6097G>T c.(6097-6099)GGG>TGG p.G2033W SDK1_uc010kso.2_Missense_Mutation_p.G1289W|SDK1_uc003smy.2_Missense_Mutation_p.G520W|SDK1_uc003smz.2_Missense_Mutation_p.G93W NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 2033 Extracellular (Potential).|Cytoplasmic (Potential). 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) CGTCCTGCACGGGCAGAATAA 0.572 NA 41 36 3.4345e-17 4.09073e-17 0.011902 1 0 RBAK 57786 broad.mit.edu 37 7 5103989 5103989 + Missense_Mutation SNP A A G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:5103989A>G uc010kss.1 + 6 1226 c.902A>G c.(901-903)AAG>AGG p.K301R LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Missense_Mutation_p.K301R NM_021163 NP_066986 Q9NYW8 RBAK_HUMAN RB-associated KRAB repressor 301 C2H2-type 2. 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) TTCAGCCAAAAGGGAACCCTC 0.408 NA 25 28 0 0 0.00333 0 0 DPY19L1 23333 broad.mit.edu 37 7 34971311 34971311 + Silent SNP A A G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:34971311A>G uc003tem.3 - 22 2047 c.1902T>C c.(1900-1902)GAT>GAC p.D634D DPY19L1_uc003tel.1_RNA NM_015283 NP_056098 Q2PZI1 D19L1_HUMAN dpy-19-like 1 634 integral to membrane 0 GATCTTCTACATCCCAAATTT 0.398 NA 3 36 0 0 0.004672 0 0 PKD1L1 168507 broad.mit.edu 37 7 47882650 47882650 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:47882650G>C uc003tny.1 - 34 5355 c.5355C>G c.(5353-5355)ATC>ATG p.I1785M NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 1785 Cytoplasmic (Potential). cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 CTTGCAGAAAGATGTAACCAG 0.448 NA 12 39 0 0 0.013537 0 0 POM121L12 285877 broad.mit.edu 37 7 53103733 53103733 + Silent SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:53103733G>T uc003tpz.2 + 1 385 c.369G>T c.(367-369)GGG>GGT p.G123G NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 123 0 TGAAAGGGGGGCTGTGTCGTG 0.697 NA 9 31 2.17888e-05 2.32158e-05 0.006214 1 0 ZNF479 90827 broad.mit.edu 37 7 57187738 57187738 + Nonsense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:57187738C>A uc010kzo.2 - 5 1655 c.1384G>T c.(1384-1386)GAG>TAG p.E462* NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 462 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) TAGGGTCTCTCTCCAGTATGA 0.423 NA 47 88 1.67211e-32 2.09642e-32 0.01441 1 0 ZNF92 168374 broad.mit.edu 37 7 64864225 64864225 + Nonsense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:64864225G>T uc003ttz.2 + 4 1341 c.1198G>T c.(1198-1200)GAA>TAA p.E400* ZNF92_uc003tua.2_Nonsense_Mutation_p.E331*|ZNF92_uc010kzu.2_Nonsense_Mutation_p.E368*|ZNF92_uc003tub.2_Nonsense_Mutation_p.E324* NM_152626 NP_689839 Q03936 ZNF92_HUMAN zinc finger protein 92 isoform 2 400 C2H2-type 10. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Lung NSC(55;0.159) CTACAAATGTGAAGAATGTGG 0.383 NA 7 38 0.00198382 0.00205467 0.001984 1 0 TRIM50 135892 broad.mit.edu 37 7 72738498 72738498 + Silent SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:72738498G>C uc010lbd.1 - 2 413 c.288C>G c.(286-288)CTC>CTG p.L96L FKBP6_uc003twz.2_Intron|TRIM50_uc003txy.1_Silent_p.L96L|TRIM50_uc003txz.1_Silent_p.L96L NM_178125 NP_835226 Q86XT4 TRI50_HUMAN tripartite motif protein 50A 96 B box-type. cytoplasm|intracellular membrane-bounded organelle ligase activity|zinc ion binding skin(1) 1 AGAAAAGGCTGAGCGGGTTCC 0.667 NA OREG0018105 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 71 0 0 0.00499 0 0 SEMA3A 10371 broad.mit.edu 37 7 83640603 83640603 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:83640603C>A uc003uhz.2 - 8 1136 c.821G>T c.(820-822)GGA>GTA p.G274V NM_006080 NP_006071 Q14563 SEM3A_HUMAN semaphorin 3A precursor 274 Sema. axon guidance extracellular region|membrane receptor activity ovary(2)|breast(1)|kidney(1) 4 TCTGTGCCCTCCAAAGTCATT 0.378 NA 6 23 3.59834e-05 3.82789e-05 0.001168 1 0 AGFG2 3268 broad.mit.edu 37 7 100151083 100151083 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:100151083C>T uc003uvf.2 + 4 681 c.545C>T c.(544-546)CCT>CTT p.P182L AGFG2_uc003uvg.1_Intron|AGFG2_uc010lgy.2_Silent_p.L44L NM_006076 NP_006067 O95081 AGFG2_HUMAN ArfGAP with FG repeats 2 182 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding central_nervous_system(1) 1 CTGGGTGATCCTGCACCGTCT 0.557 NA 13 76 0 0 0.013537 0 0 PRKRIP1 79706 broad.mit.edu 37 7 102036862 102036862 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:102036862G>A uc003uzh.2 + 1 59 c.4G>A c.(4-6)GCT>ACT p.A2T PRKRIP1_uc003uzf.2_Intron|PRKRIP1_uc003uzg.2_Intron|PRKRIP1_uc011kkq.1_Intron|PRKRIP1_uc011kkr.1_Missense_Mutation_p.A2T NM_024653 NP_078929 Q9H875 PKRI1_HUMAN PRKR interacting protein 1 (IL11 inducible) 2 Interaction with EIF2AK2 (By similarity). nucleolus ovary(1) 1 GGCTGCCATGGCTAGCCCAGC 0.667 NA 8 4 0 0 0.00308 0 0 RELN 5649 broad.mit.edu 37 7 103341380 103341380 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:103341380G>A uc003vca.2 - 9 1039 c.879C>T c.(877-879)GAC>GAT p.D293D RELN_uc010liz.2_Silent_p.D293D NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 293 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GCTGAATCCAGTCCGCAGAGT 0.363 NSCLC(146;835 1944 15585 22231 52158) NA 40 61 0 0 0.009718 0 0 AHCYL2 23382 broad.mit.edu 37 7 129046264 129046264 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:129046264G>C uc011kov.1 + 10 1306 c.1252G>C c.(1252-1254)GTG>CTG p.V418L AHCYL2_uc003vot.2_Missense_Mutation_p.V417L|AHCYL2_uc003vov.2_Missense_Mutation_p.V315L|AHCYL2_uc011kow.1_Missense_Mutation_p.V316L|AHCYL2_uc011kox.1_Missense_Mutation_p.V315L NM_015328 NP_056143 Q96HN2 SAHH3_HUMAN S-adenosylhomocysteine hydrolase-like 2 isoform 418 one-carbon metabolic process adenosylhomocysteinase activity ovary(2) 2 GGGCTCCATTGTGTATGTAAC 0.502 Pancreas(160;1736 1964 29875 40941 45605) NA 16 80 0 0 0.007413 0 0 FAM40B 57464 broad.mit.edu 37 7 129091575 129091575 + Silent SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:129091575C>G uc011koy.1 + 4 436 c.396C>G c.(394-396)CTC>CTG p.L132L FAM40B_uc003vow.2_Silent_p.L132L NM_020704 NP_065755 Q9ULQ0 FA40B_HUMAN hypothetical protein LOC57464 isoform a 132 0 GGGCTGTTCTCTACCTGGCCC 0.567 NA 9 26 0 0 0.004482 0 0 MEST 4232 broad.mit.edu 37 7 130140669 130140669 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:130140669G>C uc003vqg.2 + 9 904 c.687G>C c.(685-687)GAG>GAC p.E229D MEST_uc003vqc.2_Missense_Mutation_p.E220D|MEST_uc003vqd.2_Intron|MEST_uc003vqf.2_Missense_Mutation_p.E220D|MEST_uc011kph.1_Missense_Mutation_p.E215D|MEST_uc010lmg.2_Missense_Mutation_p.E229D NM_002402 NP_002393 Q5EB52 MEST_HUMAN mesoderm specific transcript isoform a 229 mesoderm development endoplasmic reticulum membrane|integral to membrane hydrolase activity|protein binding ovary(2) 2 Melanoma(18;0.0435) GGCCCTCTGAGAGTGAGCTGT 0.463 Colon(126;2182 2305 6517 35181) NA 3 38 0 0 0.009096 0 0 AKR1B10 57016 broad.mit.edu 37 7 134222405 134222405 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:134222405G>A uc003vrr.2 + 7 1053 c.733G>A c.(733-735)GCA>ACA p.A245T NM_020299 NP_064695 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 245 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding skin(5) 5 CAAAAAAACCGCAGCCCAGGT 0.448 NA 14 60 0 0 0.003163 0 0 NUP205 23165 broad.mit.edu 37 7 135304260 135304260 + Silent SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:135304260C>G uc003vsw.2 + 29 4084 c.4053C>G c.(4051-4053)CTC>CTG p.L1351L NUP205_uc003vsx.2_5'Flank NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 1351 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 AGGCCGTCCTCACTGAACAGA 0.512 NA 25 35 0 0 0.003954 0 0 BRAF 673 broad.mit.edu 37 7 140482954 140482954 + Nonsense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:140482954G>C uc003vwc.3 - 10 1242 c.1181C>G c.(1180-1182)TCA>TGA p.S394* NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 394 activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2) thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1) 18290 Melanoma(164;0.00956) Sorafenib(DB00398) ACCTGTGGTTGATCCTAAATT 0.408 Colon(40;35 892 2973 5743 27438) 61 Mis|T|O AKAP9|KIAA1549 melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma Cardio-facio-cutaneous syndrome Cardiofaciocutaneous_syndrome 7 33 0 0 0.00308 0 0 PRSS1 5644 broad.mit.edu 37 7 142460304 142460304 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:142460304G>T uc003wak.2 + 4 494 c.477G>T c.(475-477)CAG>CAT p.Q159H uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc003wam.2_Missense_Mutation_p.Q99H NM_002769 NP_002760 P07477 TRY1_HUMAN protease, serine, 1 preproprotein 159 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity large_intestine(1)|central_nervous_system(1) 2 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) ACGAGCTGCAGTGCCTGGATG 0.522 NA Hereditary_Pancreatitis 14 262 3.32936e-07 3.64046e-07 0.006122 1 0 CASP2 835 broad.mit.edu 37 7 142988758 142988758 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:142988758C>T uc003wco.2 + 2 347 c.200C>T c.(199-201)ACC>ATC p.T67I CASP2_uc003wcp.2_Missense_Mutation_p.T67I|CASP2_uc011kta.1_5'UTR|CASP2_uc003wcq.2_RNA NM_032982 NP_116764 P42575 CASP2_HUMAN caspase 2 isoform 1 preproprotein 67 CARD. apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage cytosol cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding lung(2)|ovary(1) 3 Melanoma(164;0.059) GACATCATCACCTTGGAAATG 0.438 NA 21 124 0 0 0.012319 0 0 OR2A12 346525 broad.mit.edu 37 7 143792833 143792833 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:143792833C>T uc011kty.1 + 1 633 c.633C>T c.(631-633)TGC>TGT p.C211C NM_001004135 NP_001004135 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, 211 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 Melanoma(164;0.0783) GGCCGCTCTGCCTGGTGCTGG 0.562 NA 60 120 0 0 0.01441 0 0 ZNF786 136051 broad.mit.edu 37 7 148768612 148768612 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:148768612C>T uc003wfh.2 - 4 1389 c.1252G>A c.(1252-1254)GCG>ACG p.A418T ZNF786_uc011kuk.1_Missense_Mutation_p.A381T|ZNF786_uc003wfi.2_Missense_Mutation_p.A332T NM_152411 NP_689624 Q8N393 ZN786_HUMAN zinc finger protein 786 418 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|skin(1) 4 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) CCACCGTGCGCGTGCTGGTGG 0.632 NA 4 24 0 0 0.000602 0 0 KCNH2 3757 broad.mit.edu 37 7 150648011 150648011 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:150648011C>G uc003wic.2 - 8 2156 c.2143G>C c.(2143-2145)GCG>CCG p.A715P KCNH2_uc003wib.2_Missense_Mutation_p.A375P|KCNH2_uc011kux.1_Missense_Mutation_p.A619P|KCNH2_uc003wid.2_Missense_Mutation_p.A375P|KCNH2_uc003wie.2_Missense_Mutation_p.A715P NM_000238 NP_000229 Q12809 KCNH2_HUMAN voltage-gated potassium channel, subfamily H, 715 Cytoplasmic (Potential). blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity skin(3)|ovary(1) 4 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) GGCCTCACCGCGTTCATGTCG 0.632 GBM(137;110 1844 13671 20123 45161) NA 11 27 0 0 0.004007 0 0 NOS3 4846 broad.mit.edu 37 7 150696133 150696133 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:150696133C>A uc003wif.2 + 8 1212 c.916C>A c.(916-918)CCC>ACC p.P306T NOS3_uc011kuy.1_Missense_Mutation_p.P100T|NOS3_uc011kuz.1_Missense_Mutation_p.P306T|NOS3_uc011kva.1_Missense_Mutation_p.P306T|NOS3_uc011kvb.1_Missense_Mutation_p.P306T NM_000603 NP_000594 P29474 NOS3_HUMAN nitric oxide synthase 3 isoform 1 306 Interaction with NOSIP. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding central_nervous_system(5)|large_intestine(2)|skin(1) 8 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) CTTCCTTCTGCCCCCCGAGCT 0.642 NA 66 83 1.37693e-34 1.73613e-34 0.01441 1 0 SLC4A2 6522 broad.mit.edu 37 7 150764008 150764008 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:150764008G>C uc003wit.3 + 7 1150 c.894G>C c.(892-894)CAG>CAC p.Q298H SLC4A2_uc011kve.1_Missense_Mutation_p.Q289H|SLC4A2_uc003wiu.3_Missense_Mutation_p.Q284H NM_003040 NP_003031 P04920 B3A2_HUMAN solute carrier family 4, anion exchanger, member 298 Cytoplasmic (Potential).|Pro-rich. bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity 0 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GTTCCACACAGAGTGGCCGAG 0.657 NA 12 26 0 0 0.001855 0 0 ARHGEF10 9639 broad.mit.edu 37 8 1881965 1881965 + Splice_Site SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr8:1881965G>C uc003wpr.2 + 26 3258 c.3080_splice c.e26-1 p.D1027_splice ARHGEF10_uc003wps.2_Splice_Site_p.D989_splice|ARHGEF10_uc010lre.2_Splice_Site_p.D678_splice NM_014629 NP_055444 O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor 10 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity large_intestine(1) 1 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) TTTCTTTTAAGATGGATCCTG 0.418 NA 21 73 0 0 0.00333 0 0 RP1L1 94137 broad.mit.edu 37 8 10465806 10465806 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr8:10465806C>T uc003wtc.2 - 4 6031 c.5802G>A c.(5800-5802)GAG>GAA p.E1934E NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1934 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) CACCTTCTGACTCTGGCTCGT 0.602 NA 46 121 0 0 0.01441 0 0 CYP7B1 9420 broad.mit.edu 37 8 65528839 65528839 + Splice_Site SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr8:65528839C>T uc003xvj.2 - 3 464 c.260_splice c.e3-1 p.G87_splice NM_004820 NP_004811 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity ovary(3) 3 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) ATGTACTTTCCTAGAAAAAAA 0.264 NA 3 12 0 0 0.001168 0 0 CSPP1 79848 broad.mit.edu 37 8 68007596 68007596 + Silent SNP A A T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr8:68007596A>T uc003xxi.2 + 8 715 c.684A>T c.(682-684)ACA>ACT p.T228T CSPP1_uc003xxg.1_Silent_p.T220T|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Silent_p.T193T|CSPP1_uc003xxk.2_5'UTR NM_001077204 NP_001070672 Q1MSJ5 CSPP1_HUMAN centrosome spindle pole associated protein 1 228 centrosome|microtubule|spindle ovary(3)|breast(2) 5 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) AAATACAGACATCTTGTGAAA 0.363 NA 13 69 0 0 0.001855 0 0 SULF1 23213 broad.mit.edu 37 8 70550826 70550826 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr8:70550826G>C uc010lza.1 + 20 3091 c.2374G>C c.(2374-2376)GAG>CAG p.E792Q SULF1_uc003xyd.2_Missense_Mutation_p.E792Q|SULF1_uc003xye.2_Missense_Mutation_p.E792Q|SULF1_uc003xyf.2_Missense_Mutation_p.E792Q|SULF1_uc003xyg.2_Missense_Mutation_p.E792Q|SULF1_uc003xyh.1_RNA|SULF1_uc003xyi.1_Intron|SULF1_uc003xyj.1_5'UTR NM_015170 NP_055985 Q8IWU6 SULF1_HUMAN sulfatase 1 precursor 792 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1) 7 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TCTTTTCTGTGAGTTTGCTAC 0.353 NA 13 62 0 0 0.013537 0 0 IL7 3574 broad.mit.edu 37 8 79652305 79652305 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr8:79652305C>G uc003ybg.2 - 3 761 c.160G>C c.(160-162)GAA>CAA p.E54Q IL7_uc003ybe.2_Missense_Mutation_p.E13Q|IL7_uc011lfm.1_RNA|IL7_uc003ybh.2_RNA|IL7_uc003ybi.3_RNA NM_000880 NP_000871 P13232 IL7_HUMAN interleukin 7 precursor 54 bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation extracellular space cytokine activity|growth factor activity|interleukin-7 receptor binding 0 CTACCAATTTCTTTCATGCTG 0.224 NA 9 36 0 0 0.006214 0 0 MMP16 4325 broad.mit.edu 37 8 89198707 89198707 + Nonsense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr8:89198707G>T uc003yeb.3 - 3 684 c.402C>A c.(400-402)TAC>TAA p.Y134* MMP16_uc003yec.2_Nonsense_Mutation_p.Y134* NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 134 Extracellular (Potential). collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1) 8 TCTTATACCTGTAAGTGATGT 0.403 NA 69 139 3.89499e-28 4.84693e-28 0.01441 1 0 DECR1 1666 broad.mit.edu 37 8 91013744 91013744 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr8:91013744C>G uc003yek.1 + 1 165 c.24C>G c.(22-24)TTC>TTG p.F8L DECR1_uc011lgc.1_5'UTR|DECR1_uc011lgd.1_RNA NM_001359 NP_001350 Q16698 DECR_HUMAN 2,4-dienoyl CoA reductase 1 precursor 8 fatty acid beta-oxidation|protein homotetramerization mitochondrial matrix|nucleus|plasma membrane 2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH 0 BRCA - Breast invasive adenocarcinoma(11;0.00953) CCAGGGTTTTCTTTACTCTGG 0.667 NA OREG0018857 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 31 0 0 0.004672 0 0 PGCP 10404 broad.mit.edu 37 8 98041644 98041644 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr8:98041644G>A uc003yhw.2 + 6 1141 c.975G>A c.(973-975)AAG>AAA p.K325K NM_016134 NP_057218 Q9Y646 PGCP_HUMAN plasma glutamate carboxypeptidase precursor 325 peptide metabolic process|proteolysis cytoplasm|extracellular space metal ion binding|metallocarboxypeptidase activity upper_aerodigestive_tract(1) 1 Breast(36;1.86e-05) TGCGTCCAAAGAGGACTCTGC 0.428 NA 4 11 0 0 0.009096 0 0 LRP12 29967 broad.mit.edu 37 8 105510107 105510107 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr8:105510107G>A uc003yma.2 - 5 768 c.673C>T c.(673-675)CGT>TGT p.R225C LRP12_uc003ymb.2_Missense_Mutation_p.R206C|LRP12_uc003ylz.2_5'Flank NM_013437 NP_038465 Q9Y561 LRP12_HUMAN low density lipoprotein-related protein 12 225 Extracellular (Potential).|LDL-receptor class A 2. endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) TTGGTAAAACGGGATAAACAC 0.448 NA 45 96 0 0 0.01441 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110464993 110464993 + Nonsense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr8:110464993C>G uc003yne.2 + 43 6658 c.6554C>G c.(6553-6555)TCA>TGA p.S2185* NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 2185 Extracellular (Potential).|G8 1. 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) TCCAATTTCTCATGGGGGGGA 0.388 NA HNSCC(38;0.096) 2 9 0 0 0.004672 0 0 TRPS1 7227 broad.mit.edu 37 8 116632009 116632009 + Missense_Mutation SNP T T G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr8:116632009T>G uc003ynz.2 - 2 736 c.277A>C c.(277-279)AAG>CAG p.K93Q TRPS1_uc011lhy.1_Missense_Mutation_p.K97Q|TRPS1_uc003yny.2_Missense_Mutation_p.K106Q|TRPS1_uc010mcy.2_Missense_Mutation_p.K93Q NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 93 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TTTCCTCCCTTACTGGGGCTT 0.473 NA Langer-Giedion_syndrome 11 75 0 0 0.010729 0 0 FER1L6 654463 broad.mit.edu 37 8 125052198 125052198 + Nonsense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr8:125052198C>G uc003yqw.2 + 20 2746 c.2540C>G c.(2539-2541)TCA>TGA p.S847* uc003yqx.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 847 Cytoplasmic (Potential).|C2 3. integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) AATGGACTTTCAGACCCTTTT 0.522 NA 6 86 0 0 0.001168 0 0 TG 7038 broad.mit.edu 37 8 134030239 134030239 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr8:134030239C>T uc003ytw.2 + 38 6820 c.6779C>T c.(6778-6780)CCA>CTA p.P2260L TG_uc010mdw.2_Missense_Mutation_p.P1019L|TG_uc011ljb.1_Missense_Mutation_p.P629L|TG_uc011ljc.1_Missense_Mutation_p.P393L NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 2260 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GCCAGCAAGCCAAGGTATGGG 0.532 NA 15 20 0 0 0.00245 0 0 SPATC1 375686 broad.mit.edu 37 8 145095676 145095676 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr8:145095676C>G uc011lkw.1 + 3 1076 c.974C>G c.(973-975)TCC>TGC p.S325C SPATC1_uc011lkx.1_Missense_Mutation_p.S325C NM_198572 NP_940974 Q76KD6 SPERI_HUMAN spermatogenesis and centriole associated 1 325 ovary(1)|central_nervous_system(1) 2 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) gtccccacctcccccaccacc 0.378 NA 5 6 0 0 0.000602 0 0 KIAA2026 158358 broad.mit.edu 37 9 5988524 5988524 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr9:5988524C>T uc003zjq.3 - 2 831 c.615G>A c.(613-615)ACG>ACA p.T205T NM_001017969 NP_001017969 Q5HYC2 K2026_HUMAN hypothetical protein LOC158358 205 ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) TAACTGCTATCGTTGTCTTTT 0.443 NA 4 20 0 0 0.000602 0 0 KDM4C 23081 broad.mit.edu 37 9 6986486 6986486 + Missense_Mutation SNP A A T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr9:6986486A>T uc003zkh.2 + 11 2077 c.1497A>T c.(1495-1497)AAA>AAT p.K499N KDM4C_uc010mhu.2_Missense_Mutation_p.K521N|KDM4C_uc011lmi.1_Missense_Mutation_p.K499N|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Missense_Mutation_p.K499N|KDM4C_uc011lmk.1_Missense_Mutation_p.K318N|KDM4C_uc011lml.1_Missense_Mutation_p.K186N NM_015061 NP_055876 Q9H3R0 KDM4C_HUMAN jumonji domain containing 2C isoform 1 499 positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent nuclear chromatin androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 AGCCCGAGAAATCAGACCCAT 0.463 NA 10 59 0 0 0.008291 0 0 PTPRD 5789 broad.mit.edu 37 9 8436648 8436648 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr9:8436648C>T uc003zkk.2 - 34 4741 c.4030G>A c.(4030-4032)GAC>AAC p.D1344N PTPRD_uc003zkp.2_Missense_Mutation_p.D938N|PTPRD_uc003zkq.2_Missense_Mutation_p.D937N|PTPRD_uc003zkr.2_Missense_Mutation_p.D928N|PTPRD_uc003zks.2_Missense_Mutation_p.D937N|PTPRD_uc003zkl.2_Missense_Mutation_p.D1335N|PTPRD_uc003zkm.2_Missense_Mutation_p.D1331N|PTPRD_uc003zkn.2_Missense_Mutation_p.D933N|PTPRD_uc003zko.2_Missense_Mutation_p.D934N NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1344 Cytoplasmic (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TCAATGTGGTCTGCAAGTTCC 0.338 NA TSP Lung(15;0.13) 10 48 0 0 0.010729 0 0 FREM1 158326 broad.mit.edu 37 9 14740193 14740193 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr9:14740193G>T uc003zlm.2 - 36 6884 c.6294C>A c.(6292-6294)CAC>CAA p.H2098Q FREM1_uc010mic.2_RNA|FREM1_uc003zlk.2_RNA|FREM1_uc003zll.2_Missense_Mutation_p.H634Q NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 2098 C-type lectin. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) GCCACCGCATGTGCTGCCTGG 0.473 NA 36 49 2.26627e-22 2.76345e-22 0.007835 1 0 TAF1L 138474 broad.mit.edu 37 9 32632473 32632473 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr9:32632473C>T uc003zrg.1 - 1 3195 c.3105G>A c.(3103-3105)GAG>GAA p.E1035E uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 1035 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) ACTTTTTAATCTCTTCCTCAG 0.483 NA 40 203 0 0 0.007835 0 0 FAM166B 730112 broad.mit.edu 37 9 35563186 35563186 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr9:35563186G>C uc010mkr.2 - 2 334 c.263C>G c.(262-264)TCC>TGC p.S88C FAM166B_uc011lov.1_Missense_Mutation_p.S88C|FAM166B_uc011low.1_Missense_Mutation_p.S88C|FAM166B_uc003zwy.2_Missense_Mutation_p.S88C NM_001164310 NP_001157782 A8MTA8 F166B_HUMAN hypothetical protein LOC730112 isoform 1 88 0 GATCATGCTGGAGCTGAGCCT 0.577 NA 17 96 0 0 0.004007 0 0 CCIN 881 broad.mit.edu 37 9 36170550 36170550 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr9:36170550G>T uc003zzb.3 + 1 1162 c.1051G>T c.(1051-1053)GAT>TAT p.D351Y NM_005893 NP_005884 Q13939 CALI_HUMAN calicin 351 Kelch 2. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton ovary(1)|skin(1) 2 STAD - Stomach adenocarcinoma(86;0.228) GTATGACATGGATGACAACTC 0.572 NA 16 67 6.31663e-08 6.96395e-08 0.003163 1 0 FXN 2395 broad.mit.edu 37 9 71687670 71687670 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr9:71687670G>C uc004aha.2 + 5 845 c.625G>C c.(625-627)GAT>CAT p.D209H FXN_uc011lrr.1_Intron|FXN_uc004agz.2_3'UTR NM_000144 NP_000135 Q16595 FRDA_HUMAN frataxin isoform 1 preproprotein 209 cellular iron ion homeostasis|cellular response to hydrogen peroxide|heme biosynthetic process|ion transport|iron incorporation into metallo-sulfur cluster|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity|protein autoprocessing|regulation of ferrochelatase activity|response to iron ion cytosol|mitochondrial matrix 2 iron, 2 sulfur cluster binding|ferric iron binding|ferrous iron binding|ferroxidase activity|iron chaperone activity|protein binding 0 TTCCGGAAAAGATGCTTGATG 0.473 NA 15 62 0 0 0.003163 0 0 PHF2 5253 broad.mit.edu 37 9 96439907 96439907 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr9:96439907G>A uc004aub.2 + 22 3387 c.3240G>A c.(3238-3240)CAG>CAA p.Q1080Q PHF2_uc004auc.2_Intron NM_005392 NP_005383 O75151 PHF2_HUMAN PHD finger protein 2 1080 liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) CCGCCAAGCAGAGGCTTGGGA 0.537 NA 36 121 0 0 0.003755 0 0 ZNF483 158399 broad.mit.edu 37 9 114304757 114304757 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr9:114304757G>C uc004bff.2 + 6 1766 c.1542G>C c.(1540-1542)CAG>CAC p.Q514H ZNF483_uc004bfg.2_Intron NM_133464 NP_597721 Q8TF39 ZN483_HUMAN zinc finger protein 483 isoform a 514 C2H2-type 3. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 TTAAACATCAGAGAATTCATA 0.408 NA 16 55 0 0 0.004007 0 0 CCBL1 883 broad.mit.edu 37 9 131600361 131600361 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr9:131600361C>A uc004bwh.2 - 5 592 c.407G>T c.(406-408)GGG>GTG p.G136V CCBL1_uc004bwf.2_Missense_Mutation_p.G170V|CCBL1_uc004bwg.2_RNA|CCBL1_uc010myn.2_Missense_Mutation_p.G136V|CCBL1_uc004bwj.2_Missense_Mutation_p.G86V|CCBL1_uc011mbl.1_Missense_Mutation_p.G230V|CCBL1_uc004bwi.2_RNA|CCBL1_uc010myo.2_Missense_Mutation_p.G136V NM_004059 NP_004050 Q16773 KAT1_HUMAN kynurenine aminotransferase I isoform a 136 kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process cytosol|nucleus 1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding ovary(1) 1 L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114) AGGACGACCCCCTGCCATCAT 0.547 NA 68 117 1.7488e-33 2.1967e-33 0.01441 1 0 BARHL1 56751 broad.mit.edu 37 9 135464746 135464746 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr9:135464746G>A uc004cbp.1 + 3 1013 c.821G>A c.(820-822)GGC>GAC p.G274D NM_020064 NP_064448 Q9BZE3 BARH1_HUMAN BarH-like homeobox 1 274 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05) CTGGACCCCGGCGCGGCGCTC 0.672 NA 23 55 0 0 0.014323 0 0 PMPCA 23203 broad.mit.edu 37 9 139311650 139311650 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr9:139311650C>T uc004chl.2 + 7 886 c.881C>T c.(880-882)ACT>ATT p.T294I PMPCA_uc010nbl.2_Missense_Mutation_p.T194I|PMPCA_uc011mdz.1_Missense_Mutation_p.T163I|PMPCA_uc004chm.1_Missense_Mutation_p.T44I|PMPCA_uc004chn.1_5'Flank NM_015160 NP_055975 Q10713 MPPA_HUMAN peptidase (mitochondrial processing) alpha 294 proteolysis mitochondrial inner membrane|mitochondrial matrix metalloendopeptidase activity|zinc ion binding 0 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05) GCCCAGTACACTGGGGGGATT 0.612 NA 11 23 0 0 0.008291 0 0 FRMPD4 9758 broad.mit.edu 37 X 12734961 12734961 + Nonsense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:12734961G>T uc004cuz.1 + 15 2889 c.2383G>T c.(2383-2385)GAG>TAG p.E795* FRMPD4_uc011mij.1_Nonsense_Mutation_p.E787* NM_014728 NP_055543 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 795 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1) 13 TGATGACAATGAGGATGACTT 0.562 NA 36 123 1.30015e-28 1.62093e-28 0.004878 1 0 TCEANC 170082 broad.mit.edu 37 X 13681425 13681425 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:13681425G>A uc004cvk.2 + 2 1028 c.798G>A c.(796-798)CTG>CTA p.L266L TCEANC_uc010nee.1_Silent_p.L266L|TCEANC_uc010nef.1_Silent_p.L266L|TCEANC_uc010neg.1_Silent_p.L296L|TCEANC_uc004cvl.2_RNA NM_152634 NP_689847 Q8N8B7 TEANC_HUMAN TFIIS central domain-containing protein 1 266 TFIIS central. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding pancreas(1) 1 ATAAGGAACTGAAGCAGTTGA 0.428 NA 4 10 0 0 0.009096 0 0 FANCB 2187 broad.mit.edu 37 X 14883041 14883041 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:14883041G>C uc004cwg.1 - 3 860 c.592C>G c.(592-594)CAA>GAA p.Q198E FANCB_uc004cwh.1_Missense_Mutation_p.Q198E NM_001018113 NP_001018123 Q8NB91 FANCB_HUMAN Fanconi anemia complementation group B 198 DNA repair nucleoplasm lung(1) 1 Hepatocellular(33;0.183) GAAGGCTCTTGAGTACATTCT 0.333 NA Involved_in_tolerance_or_repair_of_DNA_crosslinks FanconAnemia 29 131 0 0 0.008361 0 0 PIGA 5277 broad.mit.edu 37 X 15339736 15339736 + Silent SNP A A G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:15339736A>G uc004cwr.2 - 6 1447 c.1347T>C c.(1345-1347)TCT>TCC p.S449S PIGA_uc010neu.2_Silent_p.S65S|PIGA_uc004cwq.2_Silent_p.S134S|PIGA_uc010nev.2_Silent_p.S280S|PIGA_uc004cws.2_Silent_p.S134S|PIGA_uc011miq.1_Silent_p.S215S NM_002641 NP_002632 P37287 PIGA_HUMAN phosphatidylinositol 449 Lumenal (Potential). C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding 0 Hepatocellular(33;0.183) CATCAATGATAGAATCTGGAG 0.428 NA 27 102 0 0 0.010818 0 0 RPS6KA3 6197 broad.mit.edu 37 X 20187547 20187547 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:20187547C>G uc004czu.2 - 16 1416 c.1416G>C c.(1414-1416)CAG>CAC p.Q472H RPS6KA3_uc011mjk.1_Missense_Mutation_p.Q442H|RPS6KA3_uc004czv.2_Missense_Mutation_p.Q459H|RPS6KA3_uc011mjl.1_Missense_Mutation_p.Q443H|RPS6KA3_uc011mjm.1_Missense_Mutation_p.Q444H NM_004586 NP_004577 P51812 KS6A3_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 472 Protein kinase 2. axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(4)|stomach(1)|ovary(1)|lung(1)|breast(1) 8 TGTTTGGATGCTGTCCATAAC 0.308 NA 24 104 0 0 0.005443 0 0 KLHL34 257240 broad.mit.edu 37 X 21674331 21674331 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:21674331C>A uc004czz.1 - 1 2118 c.1576G>T c.(1576-1578)GGC>TGC p.G526C NM_153270 NP_695002 Q8N239 KLH34_HUMAN kelch-like 34 526 Kelch 4. ovary(1) 1 AACACAGCGCCGCGCAGCACT 0.647 NA 3 5 6.4e-05 6.78665e-05 0.004672 1 0 YY2 404281 broad.mit.edu 37 X 21875591 21875591 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:21875591C>G uc011mjp.1 + 1 989 c.989C>G c.(988-990)ACA>AGA p.T330R MBTPS2_uc004dae.2_Intron|MBTPS2_uc010nfr.2_Intron|YY2_uc010nfq.2_Missense_Mutation_p.T548R|MBTPS2_uc004dab.2_Intron NM_206923 NP_996806 O15391 TYY2_HUMAN YY2 transcription factor 330 Mediates transcriptional repression.|C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|plasma membrane DNA binding|zinc ion binding breast(1)|skin(1) 2 AATTTGCGCACACACTTGCGC 0.527 NA 54 263 0 0 0.01441 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212565 26212565 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:26212565C>A uc004dbr.2 + 2 751 c.602C>A c.(601-603)ACG>AAG p.T201K MAGEB6_uc010ngc.1_5'UTR NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 201 MAGE. ovary(3) 3 AAGGCGTGCACGTTGGCGCAA 0.483 NA 39 100 1.49673e-21 1.81513e-21 0.00623 1 0 FAM47A 158724 broad.mit.edu 37 X 34148133 34148133 + Nonsense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:34148133G>A uc004ddg.2 - 1 2296 c.2263C>T c.(2263-2265)CAA>TAA p.Q755* NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 755 ovary(4)|central_nervous_system(1) 5 AACAGCCTTTGAATGATGCCA 0.408 NA 25 104 0 0 0.008361 0 0 FAM47C 442444 broad.mit.edu 37 X 37028224 37028224 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:37028224C>A uc004ddl.1 + 1 1755 c.1741C>A c.(1741-1743)CAT>AAT p.H581N NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 581 ovary(3) 3 TGGAGTGTCCCATCTCTGCCC 0.657 NA 57 115 3.00063e-23 3.69265e-23 0.01441 1 0 OTC 5009 broad.mit.edu 37 X 38262962 38262962 + Missense_Mutation SNP T T A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:38262962T>A uc004def.3 + 6 846 c.632T>A c.(631-633)TTC>TAC p.F211Y NM_000531 NP_000522 P00480 OTC_HUMAN ornithine carbamoyltransferase precursor 211 arginine biosynthetic process|urea cycle mitochondrial matrix|ornithine carbamoyltransferase complex ornithine carbamoyltransferase activity ovary(1)|breast(1) 2 L-Citrulline(DB00155)|L-Ornithine(DB00129) GCAGCGAAATTCGGAATGCAC 0.473 NA 16 55 0 0 0.003163 0 0 USP11 8237 broad.mit.edu 37 X 47100188 47100188 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:47100188G>A uc004dhp.2 + 7 888 c.888G>A c.(886-888)TCG>TCA p.S296S USP11_uc004dhq.2_Silent_p.S23S NM_004651 NP_004642 P51784 UBP11_HUMAN ubiquitin specific peptidase 11 296 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(1)|lung(1)|central_nervous_system(1) 3 ACAACATGTCGGAAGAGGATG 0.532 NA 6 28 0 0 0.001168 0 0 Unknown 0 broad.mit.edu 37 X 48164277 48164277 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:48164277G>A uc010nib.1 - 2 93 c.6C>T c.(4-6)AAC>AAT p.N2N NM_174962 NP_777622 synovial sarcoma, X breakpoint 9 NA CATCGTCTCCGTTCATGGCAC 0.552 NA 50 181 0 0 0.01441 0 0 IQSEC2 23096 broad.mit.edu 37 X 53284025 53284025 + Missense_Mutation SNP A A T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:53284025A>T uc004dsd.2 - 4 1289 c.1088T>A c.(1087-1089)ATG>AAG p.M363K IQSEC2_uc004dsc.2_Missense_Mutation_p.M158K NM_001111125 NP_001104595 Q5JU85 IQEC2_HUMAN IQ motif and Sec7 domain 2 isoform1 353 IQ. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity ovary(3) 3 GTTCTTGTTCATGCGGTACTG 0.587 NA 5 19 0 0 0.001984 0 0 FAM123B 139285 broad.mit.edu 37 X 63411898 63411898 + Silent SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:63411898C>A uc004dvo.2 - 2 1542 c.1269G>T c.(1267-1269)CTG>CTT p.L423L NM_152424 NP_689637 Q5JTC6 F123B_HUMAN family with sequence similarity 123B 423 Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(40) kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1) 112 GATGGTAGCCCAGGTTCATAT 0.428 NA 22 57 1.39806e-14 1.64463e-14 0.008361 1 0 ZC4H2 55906 broad.mit.edu 37 X 64137684 64137684 + Silent SNP C C T rs149235340 byFrequency TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:64137684C>T uc004dvu.2 - 5 742 c.654G>A c.(652-654)CCG>CCA p.P218P ZC4H2_uc004dvv.2_Silent_p.P195P|ZC4H2_uc011mov.1_Silent_p.P195P|ZC4H2_uc011mow.1_Missense_Mutation_p.R164Q|ZC4H2_uc004dvw.1_3'UTR NM_018684 NP_061154 Q9NQZ6 ZC4H2_HUMAN zinc finger, C4H2 domain containing 218 metal ion binding|protein binding ovary(1) 1 GCTTCCGTTTCGGCTTTTTGG 0.488 NA 4 20 0 0 0.009096 0 0 RPS4X 6191 broad.mit.edu 37 X 71496038 71496038 + Missense_Mutation SNP T T C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:71496038T>C uc004ear.2 - 2 146 c.50A>G c.(49-51)CAT>CGT p.H17R RPS4X_uc011mqb.1_Missense_Mutation_p.H17R NM_001007 NP_000998 P62701 RS4X_HUMAN ribosomal protein S4, X-linked X isoform 17 endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|polysome rRNA binding|structural constituent of ribosome 0 Renal(35;0.156) CAGCATCCAATGCTTTGGAGC 0.428 NA 3 36 0 0 0.000602 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77913593 77913593 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:77913593G>T uc004edc.1 - 2 621 c.325C>A c.(325-327)CCA>ACA p.P109T NM_152694 NP_689907 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 109 Pro-rich. nucleic acid binding|zinc ion binding ovary(1) 1 GGGGCTGCTGGGGCCTCCTGG 0.642 NA 11 12 2.80697e-09 3.13086e-09 0.010729 1 0 RPA4 29935 broad.mit.edu 37 X 96139888 96139888 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:96139888C>T uc004efv.3 + 1 877 c.579C>T c.(577-579)AAC>AAT p.N193N DIAPH2_uc004eft.3_Intron|DIAPH2_uc004efu.3_Intron|DIAPH2_uc004efs.2_Intron NM_013347 NP_037479 Q13156 RFA4_HUMAN replication protein A4, 34kDa 193 DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair DNA replication factor A complex|nucleoplasm single-stranded DNA binding 0 CTGGGGATAACGATGAGAGTC 0.502 NA Other_identified_genes_with_known_or_suspected_DNA_repair_function 23 64 0 0 0.00333 0 0 MORF4L2 9643 broad.mit.edu 37 X 102931253 102931253 + Missense_Mutation SNP T T A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:102931253T>A uc004ekw.2 - 4 1935 c.703A>T c.(703-705)ATT>TTT p.I235F MORF4L2_uc004ela.2_Missense_Mutation_p.I235F|MORF4L2_uc004ekx.2_Missense_Mutation_p.I235F|MORF4L2_uc004elb.2_Missense_Mutation_p.I235F|MORF4L2_uc004eky.2_Missense_Mutation_p.I235F|MORF4L2_uc010nos.2_Missense_Mutation_p.I235F|MORF4L2_uc004ekz.2_Missense_Mutation_p.I235F|MORF4L2_uc011mry.1_Missense_Mutation_p.I235F|MORF4L2_uc011mrz.1_Missense_Mutation_p.I235F|MORF4L2_uc004elc.2_Missense_Mutation_p.I235F|MORF4L2_uc004elf.2_Missense_Mutation_p.I235F|MORF4L2_uc004ele.2_Missense_Mutation_p.I235F|MORF4L2_uc011msa.1_Missense_Mutation_p.I235F|MORF4L2_uc011msb.1_Missense_Mutation_p.I235F|MORF4L2_uc011msc.1_Missense_Mutation_p.I235F|MORF4L2_uc011msd.1_Missense_Mutation_p.I235F|MORF4L2_uc004eld.2_Missense_Mutation_p.I235F NM_012286 NP_036418 Q15014 MO4L2_HUMAN mortality factor 4 like 2 235 chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent nucleolus protein binding 0 ATTGCTCCAATTCTTACAAAT 0.438 NA 8 42 0 0 0.00308 0 0 COL4A5 1287 broad.mit.edu 37 X 107909764 107909764 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:107909764G>A uc004enz.1 + 39 3695 c.3493G>A c.(3493-3495)GAA>AAA p.E1165K COL4A5_uc011mso.1_Missense_Mutation_p.E1165K NM_033380 NP_203699 P29400 CO4A5_HUMAN type IV collagen alpha 5 isoform 2 precursor 1165 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding ovary(3)|central_nervous_system(1) 4 GCCTCCAGGCGAAAAAGGCAA 0.458 NA Alport_syndrome_with_Diffuse_Leiomyomatosis 3 18 0 0 0.009096 0 0 STAG2 10735 broad.mit.edu 37 X 123190075 123190075 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:123190075C>G uc004etz.3 + 13 1633 c.1294C>G c.(1294-1296)CTC>GTC p.L432V STAG2_uc004eua.2_Missense_Mutation_p.L432V|STAG2_uc004eub.2_Missense_Mutation_p.L432V|STAG2_uc004euc.2_Missense_Mutation_p.L432V|STAG2_uc004eud.2_Missense_Mutation_p.L432V|STAG2_uc004eue.2_Missense_Mutation_p.L432V NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 432 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 TGGAGAATTTCTCTACAAAAA 0.328 NA 19 40 0 0 0.008871 0 0 GPR112 139378 broad.mit.edu 37 X 135429886 135429886 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:135429886C>T uc004ezu.1 + 6 4312 c.4021C>T c.(4021-4023)CCA>TCA p.P1341S GPR112_uc010nsb.1_Missense_Mutation_p.P1136S|GPR112_uc010nsc.1_Missense_Mutation_p.P1108S NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1341 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) ACAGATTACACCAACCTTGAC 0.473 NA 38 45 0 0 0.005524 0 0 AFF2 2334 broad.mit.edu 37 X 148037480 148037480 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:148037480G>C uc004fcp.2 + 11 2384 c.1905G>C c.(1903-1905)GAG>GAC p.E635D AFF2_uc004fcq.2_Missense_Mutation_p.E625D|AFF2_uc004fcr.2_Missense_Mutation_p.E596D|AFF2_uc011mxb.1_Missense_Mutation_p.E600D|AFF2_uc004fcs.2_Missense_Mutation_p.E602D|AFF2_uc011mxc.1_Missense_Mutation_p.E276D NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 635 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) AAAAAGTTGAGAAGAACACCA 0.423 NA 34 96 0 0 0.012213 0 0 MAGEA4 4103 broad.mit.edu 37 X 151093032 151093032 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:151093032G>A uc004fez.2 + 3 1052 c.896G>A c.(895-897)CGC>CAC p.R299H MAGEA4_uc004ffa.2_Missense_Mutation_p.R299H|MAGEA4_uc004ffb.2_Missense_Mutation_p.R299H|MAGEA4_uc004ffc.2_Missense_Mutation_p.R299H|MAGEA4_uc004ffd.2_Missense_Mutation_p.R299H NM_002362 NP_002353 P43358 MAGA4_HUMAN melanoma antigen family A, 4 299 MAGE. protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) GCAAGAGTTCGCATTGCCTAC 0.572 NA 43 103 0 0 0.009718 0 0 MAGEA1 4100 broad.mit.edu 37 X 152482539 152482539 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:152482539C>G uc004fhf.2 - 3 692 c.472G>C c.(472-474)GAC>CAC p.D158H NM_004988 NP_004979 P43355 MAGA1_HUMAN melanoma antigen family A, 1 158 MAGE. cytoplasm|plasma membrane central_nervous_system(7)|ovary(1)|lung(1)|breast(1) 10 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCCTTCACGTCAATGCCAAAG 0.502 NA 38 105 0 0 0.005524 0 0 TPRG1L 127262 broad.mit.edu 37 1 3544203 3544204 + Frame_Shift_Ins INS - - C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:3544203_3544204insC uc001akm.2 + 4 691_692 c.610_611insC c.(610-612)GCAfs p.A204fs TPRG1L_uc009vlj.2_Frame_Shift_Ins_p.A145fs NM_182752 NP_877429 Q5T0D9 TPRGL_HUMAN tumor protein p63 regulated 1-like 204 cell junction|synaptic vesicle 0 all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172) all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201) TGAGAAGACAGCATCTCTGTGT 0.545 NA 23 97 --- --- --- --- NA NA NA NA NA EYA3 2140 broad.mit.edu 37 1 28330898 28330898 + Frame_Shift_Del DEL G G - TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:28330898delG uc001bpi.1 - 11 1107 c.942delC c.(940-942)ATCfs p.I314fs EYA3_uc010ofs.1_Frame_Shift_Del_p.I261fs|EYA3_uc010oft.1_Frame_Shift_Del_p.I268fs|EYA3_uc001bpj.2_Frame_Shift_Del_p.I268fs|EYA3_uc001bpk.1_RNA|EYA3_uc010ofu.1_RNA NM_001990 NP_001981 Q99504 EYA3_HUMAN eyes absent 3 314 anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception cytoplasm metal ion binding|protein binding|protein tyrosine phosphatase activity ovary(2)|skin(1) 3 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642) GGAAGATGATGATGGTTTCAT 0.279 NA 16 84 --- --- --- --- NA NA NA NA NA JUN 3725 broad.mit.edu 37 1 59247894 59247894 + Frame_Shift_Del DEL T T - TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:59247894delT uc001cze.2 - 1 1892 c.849delA c.(847-849)AAAfs p.K283fs uc001czf.2_5'Flank|uc010oop.1_5'Flank NM_002228 NP_002219 P05412 JUN_HUMAN jun oncogene 283 Leucine-zipper. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding 0 all_cancers(7;8.55e-07) Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570) AGGTTTTCACTTTTTCCTCCA 0.547 NA A sarcoma OREG0013518 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 43 75 --- --- --- --- NA NA NA NA NA C1orf116 79098 broad.mit.edu 37 1 207198231 207198231 + Splice_Site DEL C C - TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:207198231delC uc001hfd.2 - 3 542 c.283_splice c.e3+1 p.G95_splice C1orf116_uc009xcb.1_Splice_Site NM_023938 NP_076427 Q9BW04 SARG_HUMAN specifically androgen-regulated protein isoform cytoplasm|plasma membrane receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Prostate(682;0.19) GTCTGCCTTACCCCGGGGAGT 0.602 NA 35 105 --- --- --- --- NA NA NA NA NA HIST3H3 8290 broad.mit.edu 37 1 228612837 228612837 + Frame_Shift_Del DEL G G - TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:228612837delG uc001hsx.1 - 1 190 c.190delC c.(190-192)CGCfs p.R64fs NM_003493 NP_003484 Q16695 H31T_HUMAN histone cluster 3, H3 64 nucleosome assembly|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding 0 Prostate(94;0.0724) GGCAACTTGCGGATTAGCAGC 0.657 NA 8 183 --- --- --- --- NA NA NA NA NA RGR 5995 broad.mit.edu 37 10 86017689 86017689 + Frame_Shift_Del DEL G G - TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr10:86017689delG uc001kdc.1 + 6 709 c.671delG c.(670-672)TGGfs p.W224fs RGR_uc001kdd.1_Frame_Shift_Del_p.W228fs|RGR_uc001kde.1_Intron NM_001012720 NP_001012738 P47804 RGR_HUMAN retinal G-protein coupled receptor isoform 2 224 Helical; Name=6; (Potential). phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity|protein binding ovary(1) 1 CTGCTCGGCTGGGGCCCCTAT 0.537 NSCLC(15;204 545 5889 6385 32445) NA 12 61 --- --- --- --- NA NA NA NA NA ATM 472 broad.mit.edu 37 11 108143265 108143265 + Frame_Shift_Del DEL A A - TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:108143265delA uc001pkb.1 + 21 3469 c.3084delA c.(3082-3084)CTAfs p.L1028fs ATM_uc009yxr.1_Frame_Shift_Del_p.L1028fs NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 1028 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) TCAGGCATCTAACAAAGGAGA 0.313 NA 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) 59 33 --- --- --- --- NA NA NA NA NA MYH7 4625 broad.mit.edu 37 14 23889251 23889251 + Frame_Shift_Del DEL C C - TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr14:23889251delC uc001wjx.2 - 27 3635 c.3529delG c.(3529-3531)GACfs p.D1177fs MIR208B_hsa-mir-208b|MI0005570_5'Flank NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1177 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TCCTCCAGGTCCCGCCGCATC 0.682 NA 9 3 --- --- --- --- NA NA NA NA NA SERPINA1 5265 broad.mit.edu 37 14 94849053 94849053 + Frame_Shift_Del DEL G G - rs72552402 byFrequency TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr14:94849053delG uc001ycx.3 - 2 783 c.522delC c.(520-522)ACCfs p.T174fs SERPINA1_uc001ycw.3_RNA|SERPINA1_uc010auw.2_Frame_Shift_Del_p.T174fs|SERPINA1_uc010aux.2_Frame_Shift_Del_p.T174fs|SERPINA1_uc001ycy.3_Frame_Shift_Del_p.T174fs|SERPINA1_uc010auy.2_Frame_Shift_Del_p.T174fs|SERPINA1_uc001ycz.3_Frame_Shift_Del_p.T174fs|SERPINA1_uc010auz.2_Frame_Shift_Del_p.T174fs|SERPINA1_uc010ava.2_Frame_Shift_Del_p.T174fs|SERPINA1_uc001ydb.3_Frame_Shift_Del_p.T174fs|SERPINA1_uc010avb.2_Frame_Shift_Del_p.T174fs|SERPINA1_uc001ydc.3_Frame_Shift_Del_p.T174fs|SERPINA1_uc001yda.1_Frame_Shift_Del_p.T174fs NM_000295 NP_000286 P01009 A1AT_HUMAN serine proteinase inhibitor, clade A, member 1 174 T -> H (in Ref. 4; AAA51546). acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix protease binding|serine-type endopeptidase inhibitor activity skin(1) 1 all_cancers(154;0.0649)|all_epithelial(191;0.223) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) Alpha-1-proteinase inhibitor(DB00058) TGGCCTCTTCGGTGTCCCCGA 0.473 NA Alpha-1-Antitrypsin_Deficiency 89 46 --- --- --- --- NA NA NA NA NA ULK2 9706 broad.mit.edu 37 17 19705093 19705107 + In_Frame_Del DEL AAGGGGAAGGTGAGT AAGGGGAAGGTGAGT - TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 AAGGGGAAGGTGAGT AAGGGGAAGGTGAGT - - AAGGGGAAGGTGAGT AAGGGGAAGGTGAGT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:19705093_19705107delAAGGGGAAGGTGAGT uc002gwm.3 - 16 1933_1947 c.1424_1438delACTCACCTTCCCCTT c.(1423-1440)TACTCACCTTCCCCTTTG>TTG p.YSPSP475del ULK2_uc002gwn.2_In_Frame_Del_p.YSPSP475del NM_001142610 NP_001136082 Q8IYT8 ULK2_HUMAN unc-51-like kinase 2 475_479 signal transduction ATP binding|protein binding|protein serine/threonine kinase activity skin(2)|large_intestine(1)|stomach(1) 4 all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186) TACTTACCCAAAGGGGAAGGTGAGTAAGGCCTAGA 0.479 NA 41 103 --- --- --- --- NA NA NA NA NA REXO1 57455 broad.mit.edu 37 19 1827408 1827409 + Frame_Shift_Ins INS - - A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:1827408_1827409insA uc002lua.3 - 2 1474_1475 c.1379_1380insT c.(1378-1380)CCCfs p.P460fs REXO1_uc010dsr.1_Frame_Shift_Ins_p.P414fs NM_020695 NP_065746 Q8N1G1 REXO1_HUMAN transcription elongation factor B polypeptide 3 460 nucleus exonuclease activity|nucleic acid binding 0 Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCCCGCTTGTGGGGCTCGGCCG 0.723 NA 4 4 --- --- --- --- NA NA NA NA NA GPR112 139378 broad.mit.edu 37 X 135432460 135432460 + Frame_Shift_Del DEL G G - TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:135432460delG uc004ezu.1 + 6 6886 c.6595delG c.(6595-6597)GGGfs p.G2199fs GPR112_uc010nsb.1_Frame_Shift_Del_p.G1994fs|GPR112_uc010nsc.1_Frame_Shift_Del_p.G1966fs NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 2199 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) CATATCCACTGGGGTGACATA 0.428 NA 60 58 --- --- --- --- NA NA NA NA NA