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 SLC2A5 6518 broad.mit.edu 37 1 9097678 9097678 + Silent SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr1:9097678C>G uc001apo.2 - 12 1765 c.1473G>C c.(1471-1473)CTG>CTC p.L491L SLC2A5_uc010nzy.1_Silent_p.L432L|SLC2A5_uc010nzz.1_Silent_p.L376L|SLC2A5_uc010oaa.1_Silent_p.L447L|SLC2A5_uc010oab.1_Silent_p.L491L NM_003039 NP_003030 P22732 GTR5_HUMAN solute carrier family 2 (facilitated 491 Cytoplasmic (Potential). carbohydrate metabolic process integral to membrane|plasma membrane fructose transmembrane transporter activity|glucose transmembrane transporter activity pancreas(2)|ovary(1) 3 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) GAAGCTCTTTCAGTTCCTCCT 0.493 NA 4 233 0 0 0.000602 0 0 MTOR 2475 broad.mit.edu 37 1 11297992 11297992 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr1:11297992C>G uc001asd.2 - 13 2237 c.2116G>C c.(2116-2118)GAG>CAG p.E706Q NM_004958 NP_004949 P42345 MTOR_HUMAN FK506 binding protein 12-rapamycin associated 706 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2) 29 TCCCGGATCTCAAACACCTGG 0.572 NA 7 80 0 0 0.004482 0 0 CASP9 842 broad.mit.edu 37 1 15819510 15819510 + Silent SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr1:15819510C>T uc001awn.2 - 9 1274 c.1179G>A c.(1177-1179)GTG>GTA p.V393V CASP9_uc001awm.1_3'UTR|CASP9_uc001awo.2_Silent_p.V243V|CASP9_uc001awp.2_Silent_p.V237V|CASP9_uc009voi.2_Silent_p.V237V|CASP9_uc010obm.1_Silent_p.V310V|CASP9_uc001awq.2_Silent_p.V310V NM_001229 NP_001220 P55211 CASP9_HUMAN caspase 9 isoform alpha preproprotein 393 activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol cysteine-type endopeptidase activity|enzyme activator activity|protein binding central_nervous_system(1)|kidney(1) 2 Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655) AAATCCCTTTCACCGAAACAG 0.458 NA 65 130 0 0 0.01441 0 0 SEPN1 57190 broad.mit.edu 37 1 26139275 26139275 + Missense_Mutation SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr1:26139275C>T uc010oer.1 + 12 1434 c.1379C>T c.(1378-1380)TCC>TTC p.S460F SEPN1_uc010oes.1_Missense_Mutation_p.S426F NM_020451 NP_065184 Q9NZV5 SELN_HUMAN selenoprotein N, 1 isoform 1 precursor 460 endoplasmic reticulum membrane|extracellular region protein binding ovary(2) 2 Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649) GATGACCAGTCCTGCTGAGGT 0.597 NA 11 20 0 0 0.00245 0 0 TMEM39B 55116 broad.mit.edu 37 1 32568034 32568034 + Silent SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr1:32568034C>T uc010ogv.1 + 9 1385 c.1239C>T c.(1237-1239)TTC>TTT p.F413F TMEM39B_uc001bue.3_Silent_p.F414F|TMEM39B_uc001buf.3_Silent_p.F214F|TMEM39B_uc010ogw.1_Silent_p.F214F NM_018056 NP_060526 Q9GZU3 TM39B_HUMAN transmembrane protein 39B 413 integral to membrane 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) CCGGGCAGTTCTTTTTCAGCA 0.567 NA 10 108 0 0 0.010729 0 0 TSPAN1 10103 broad.mit.edu 37 1 46649908 46649908 + Missense_Mutation SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr1:46649908G>A uc001cpd.2 + 4 567 c.103G>A c.(103-105)GAT>AAT p.D35N TSPAN1_uc009vyd.1_Missense_Mutation_p.D35N NM_005727 NP_005718 O60635 TSN1_HUMAN tetraspan 1 35 Extracellular (Potential). integral to membrane|lysosomal membrane ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) Medulloblastoma(700;0.00498)|all_neural(321;0.0212) GGTGTCAATCGATGGGGCATC 0.567 NA 17 159 0 0 0.00278 0 0 NSUN4 387338 broad.mit.edu 37 1 46827467 46827467 + Silent SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr1:46827467C>G uc001cpr.1 + 6 1213 c.1104C>G c.(1102-1104)CTC>CTG p.L368L NSUN4_uc010omc.1_Silent_p.L319L|NSUN4_uc009vyf.1_Silent_p.L217L|NSUN4_uc009vyg.1_Silent_p.L319L|NSUN4_uc001cpt.1_RNA|NSUN4_uc001cps.1_RNA NM_199044 NP_950245 Q96CB9 NSUN4_HUMAN NOL1/NOP2/Sun domain family 4 protein 368 methyltransferase activity 0 Acute lymphoblastic leukemia(166;0.155) TACCAAACCTCATGGCCAATT 0.453 NA 19 80 0 0 0.007413 0 0 LRRC42 115353 broad.mit.edu 37 1 54418039 54418039 + Missense_Mutation SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr1:54418039G>A uc001cwj.1 + 2 567 c.367G>A c.(367-369)GAA>AAA p.E123K LRRC42_uc001cwl.1_Missense_Mutation_p.E123K|LRRC42_uc001cwk.1_Missense_Mutation_p.E123K|LRRC42_uc009vzm.1_Missense_Mutation_p.E123K NM_052940 NP_443172 Q9Y546 LRC42_HUMAN leucine rich repeat containing 42 123 0 CTCTGCTGCTGAAGCCAGACA 0.493 NA 4 112 0 0 0.009096 0 0 ANKRD34A 284615 broad.mit.edu 37 1 145473380 145473380 + Missense_Mutation SNP C C A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr1:145473380C>A uc001enq.1 + 4 1345 c.52C>A c.(52-54)CTA>ATA p.L18I NBPF10_uc001emp.3_Intron|POLR3GL_uc001enp.1_5'Flank NM_001039888 NP_001034977 Q69YU3 AN34A_HUMAN ankyrin repeat domain 34 18 ANK 1. 0 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TCAGGGTAAGCTACGCTTGGC 0.657 NA 37 35 1.15183e-24 1.41872e-24 0.009718 1 0 CHD1L 9557 broad.mit.edu 37 1 146727479 146727479 + Missense_Mutation SNP G G T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr1:146727479G>T uc001epm.3 + 4 422 c.359G>T c.(358-360)GGT>GTT p.G120V CHD1L_uc001epn.3_Missense_Mutation_p.G7V|CHD1L_uc010ozo.1_RNA|CHD1L_uc009wjg.2_RNA|CHD1L_uc009wjh.2_Missense_Mutation_p.G120V|CHD1L_uc010ozp.1_Intron|CHD1L_uc001epo.3_Intron NM_004284 NP_004275 Q86WJ1 CHD1L_HUMAN chromodomain helicase DNA binding protein 120 Helicase ATP-binding. chromatin remodeling|DNA repair cytoplasm|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding ovary(3)|lung(2)|upper_aerodigestive_tract(1) 6 all_hematologic(923;0.0487) TTTGCTCCAGGTCTTTCCTGT 0.418 NA 4 60 0.000602214 0.000683412 0.000602 1 0 CDC42SE1 56882 broad.mit.edu 37 1 151026774 151026774 + Missense_Mutation SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr1:151026774C>T uc001ewo.2 - 5 759 c.189G>A c.(187-189)ATG>ATA p.M63I CDC42SE1_uc001ewp.2_Missense_Mutation_p.M63I NM_001038707 NP_001033796 Q9NRR8 C42S1_HUMAN CDC42 small effector 1 63 phagocytosis|regulation of cell shape|signal transduction cytoplasm|cytoskeleton|plasma membrane GTPase inhibitor activity 0 Lung SC(34;0.00471)|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) CCTTGGATCTCATCTGCTCCT 0.448 NA 12 498 0 0 0.013537 0 0 RFX5 5993 broad.mit.edu 37 1 151316755 151316755 + Splice_Site SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr1:151316755C>G uc001exv.1 - 8 688 c.474_splice c.e8-1 p.K158_splice RFX5_uc001exw.1_Splice_Site_p.K158_splice|RFX5_uc009wmr.1_Splice_Site_p.K158_splice|RFX5_uc010pcx.1_Splice_Site_p.K118_splice NM_001025603 NP_001020774 P48382 RFX5_HUMAN regulatory factor X, 5 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GTAGCAATATCTGATGCAAGT 0.498 NA 3 119 0 0 0.004672 0 0 DENND4B 9909 broad.mit.edu 37 1 153911514 153911514 + Silent SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr1:153911514G>C uc001fdd.1 - 13 2228 c.1827C>G c.(1825-1827)CTC>CTG p.L609L NM_014856 NP_055671 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 609 dDENN. ovary(1) 1 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CCCGGGATTTGAGGAAGCCTG 0.547 NA 3 39 0 0 0.004672 0 0 CHRNB2 1141 broad.mit.edu 37 1 154548343 154548343 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr1:154548343C>G uc001ffg.2 + 6 1708 c.1444C>G c.(1444-1446)CTC>GTC p.L482V NM_000748 NP_000739 P17787 ACHB2_HUMAN neuronal nicotinic acetylcholine receptor beta 2 482 B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) Nicotine(DB00184) CCTGCAGCCTCTCTTCCAGAA 0.562 NA 4 204 0 0 0.001168 0 0 ZBTB7B 51043 broad.mit.edu 37 1 154987712 154987712 + Silent SNP G G T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr1:154987712G>T uc001fgk.3 + 3 734 c.576G>T c.(574-576)CCG>CCT p.P192P ZBTB7B_uc009wpa.2_Silent_p.P192P|ZBTB7B_uc001fgj.3_Silent_p.P226P|ZBTB7B_uc010peq.1_Silent_p.P226P|ZBTB7B_uc001fgl.3_Silent_p.P192P NM_015872 NP_056956 O15156 ZBT7B_HUMAN zinc finger and BTB domain containing 7B 192 Pro-rich. cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding 0 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) CTCCGCCACCGCCACCTCGGC 0.657 NA 19 60 4.54149e-19 5.50979e-19 0.014323 1 0 TTC24 164118 broad.mit.edu 37 1 156555560 156555560 + Silent SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr1:156555560C>T uc009wsc.1 + 7 812 c.672C>T c.(670-672)CCC>CCT p.P224P NM_001105669 NP_001099139 A2A3L6 TTC24_HUMAN tetratricopeptide repeat domain 24 504 binding pancreas(1) 1 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTAGTTGCCCCACGTTTACCA 0.527 NA 5 208 0 0 0.000602 0 0 FCRL4 83417 broad.mit.edu 37 1 157557312 157557312 + Nonsense_Mutation SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr1:157557312G>A uc001fqw.2 - 5 737 c.601C>T c.(601-603)CAG>TAG p.Q201* FCRL4_uc010phy.1_RNA NM_031282 NP_112572 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 precursor 201 Ig-like C2-type 3.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(2)|kidney(1)|skin(1) 4 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) TCTGTAGGCTGAGAGTCTGTA 0.478 NA 8 252 0 0 0.00308 0 0 FCRL1 115350 broad.mit.edu 37 1 157765949 157765949 + Missense_Mutation SNP G G T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr1:157765949G>T uc001frg.2 - 11 1343 c.1230C>A c.(1228-1230)GAC>GAA p.D410E FCRL1_uc001frf.2_RNA|FCRL1_uc001frh.2_Missense_Mutation_p.D409E|FCRL1_uc001fri.2_3'UTR|FCRL1_uc001frj.2_RNA NM_052938 NP_443170 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 isoform 1 precursor 410 ITIM motif 4.|Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity skin(4)|ovary(3) 7 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TGGAATAGATGTCTAAGGAAA 0.448 GBM(54;482 1003 11223 30131 35730) NA 31 76 8.88839e-20 1.08487e-19 0.010818 1 0 OR6Y1 391112 broad.mit.edu 37 1 158517081 158517081 + Missense_Mutation SNP G G T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr1:158517081G>T uc010pil.1 - 1 815 c.815C>A c.(814-816)GCC>GAC p.A272D NM_001005189 NP_001005189 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, 272 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) GGAATTGTAGGCATACATGAG 0.473 NA 133 135 1.02165e-56 1.28582e-56 0.01441 1 0 PPOX 5498 broad.mit.edu 37 1 161137915 161137915 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr1:161137915G>C uc001fyj.2 + 5 759 c.469G>C c.(469-471)GAG>CAG p.E157Q PPOX_uc001fyn.2_Intron|PPOX_uc001fyg.2_Missense_Mutation_p.E157Q|PPOX_uc001fyl.2_Missense_Mutation_p.E123Q|PPOX_uc001fym.2_RNA|PPOX_uc001fyk.2_5'UTR|PPOX_uc001fyh.2_5'UTR|PPOX_uc010pkg.1_Intron|PPOX_uc009wuc.1_5'UTR|PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Intron NM_001122764 NP_001116236 P50336 PPOX_HUMAN protoporphyrinogen oxidase 157 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) CCTTGGACCTGAGGTGACACT 0.572 NA Porphyria_Variegata 4 92 0 0 0.009096 0 0 ATF6 22926 broad.mit.edu 37 1 161736217 161736217 + Missense_Mutation SNP C C G rs149825732 TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr1:161736217C>G uc001gbr.2 + 1 134 c.67C>G c.(67-69)CTG>GTG p.L23V ATF6_uc001gbq.1_Missense_Mutation_p.L23V NM_007348 NP_031374 P18850 ATF6A_HUMAN activating transcription factor 6 23 Cytoplasmic (Potential).|Transcription activation. positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|skin(1) 3 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.00953) CTTTCACAGGCTGGATGAAGA 0.567 NA 12 111 0 0 0.010729 0 0 CENPL 91687 broad.mit.edu 37 1 173780416 173780416 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr1:173780416C>G uc001gje.3 - 2 236 c.22G>C c.(22-24)GAG>CAG p.E8Q CENPL_uc009wwg.2_5'UTR|CENPL_uc001gjg.3_Missense_Mutation_p.E8Q|CENPL_uc001gjf.3_Missense_Mutation_p.E8Q NM_033319 NP_201576 Q8N0S6 CENPL_HUMAN centromere protein L isoform 2 8 mitotic prometaphase chromosome, centromeric region|cytosol|nucleus 0 GGAGTTGACTCTGGTGCACTG 0.398 NA 4 193 0 0 0.009096 0 0 PRG4 10216 broad.mit.edu 37 1 186276981 186276981 + Silent SNP A A G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr1:186276981A>G uc001gru.3 + 7 2181 c.2130A>G c.(2128-2130)AAA>AAG p.K710K PRG4_uc001grt.3_Silent_p.K669K|PRG4_uc009wyl.2_Silent_p.K617K|PRG4_uc009wym.2_Silent_p.K576K|PRG4_uc010poo.1_Intron NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 710 59 X 8 AA repeats of K-X-P-X-P-T-T-X.|43; approximate. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 CTACCCCTAAAGGGACTGCTC 0.582 NA 5 293 0 0 0.001168 0 0 CENPF 1063 broad.mit.edu 37 1 214802433 214802433 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr1:214802433G>C uc001hkm.2 + 8 1287 c.1113G>C c.(1111-1113)TTG>TTC p.L371F NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 371 Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).|Potential. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) CGGAAGATTTGAGTTGTCAGC 0.308 Colon(80;575 1284 11000 14801 43496) NA 3 121 0 0 0.004672 0 0 KCNK2 3776 broad.mit.edu 37 1 215259970 215259970 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr1:215259970C>G uc001hkq.2 + 2 475 c.306C>G c.(304-306)TTC>TTG p.F102L KCNK2_uc001hko.2_Missense_Mutation_p.F98L|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Missense_Mutation_p.F87L NM_001017425 NP_001017425 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 isoform 102 outward rectifier potassium channel activity 0 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) AGCAAACATTCATATCCCAAC 0.463 NA 15 262 0 0 0.003163 0 0 USH2A 7399 broad.mit.edu 37 1 215848324 215848324 + Missense_Mutation SNP C C A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr1:215848324C>A uc001hku.1 - 63 13316 c.12929G>T c.(12928-12930)AGC>ATC p.S4310I NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4310 Fibronectin type-III 28.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AGGATCAAAGCTAAAAGGATA 0.433 NA HNSCC(13;0.011) 95 86 6.1132e-60 7.71791e-60 0.01441 1 0 USH2A 7399 broad.mit.edu 37 1 215914740 215914740 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr1:215914740G>C uc001hku.1 - 60 12075 c.11688C>G c.(11686-11688)ATC>ATG p.I3896M NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3896 Fibronectin type-III 24.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AGTTGATGATGATTCCATTTG 0.388 NA HNSCC(13;0.011) 34 176 0 0 0.003271 0 0 RAB3GAP2 25782 broad.mit.edu 37 1 220386243 220386243 + Missense_Mutation SNP T T A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr1:220386243T>A uc010puk.1 - 4 536 c.372A>T c.(370-372)TTA>TTT p.L124F RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_5'UTR|RAB3GAP2_uc010pum.1_Missense_Mutation_p.L124F NM_012414 NP_036546 Q9H2M9 RBGPR_HUMAN rab3 GTPase-activating protein, non-catalytic 124 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(131;0.0443) CTTCGACATTTAAGGAACCAC 0.303 NA 45 41 0 0 0.01441 0 0 PGBD5 79605 broad.mit.edu 37 1 230486821 230486821 + Silent SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr1:230486821C>G uc010pwb.1 - 3 570 c.570G>C c.(568-570)CTG>CTC p.L190L PGBD5_uc001htv.2_Silent_p.L289L NM_024554 NP_078830 Q8N414 PGBD5_HUMAN piggyBac transposable element derived 5 190 integral to membrane ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(184;0.0397) Prostate(94;0.167) GBM - Glioblastoma multiforme(131;0.201) CCTCATCGATCAGGGGTTCAT 0.388 NA 7 78 0 0 0.004482 0 0 NID1 4811 broad.mit.edu 37 1 236144994 236144994 + Silent SNP C C T rs148662892 byFrequency TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr1:236144994C>T uc001hxo.2 - 16 3246 c.3144G>A c.(3142-3144)GCG>GCA p.A1048A NID1_uc009xgd.2_Silent_p.A915A|NID1_uc009xgc.2_Silent_p.A129A NM_002508 NP_002499 P14543 NID1_HUMAN nidogen 1 precursor 1048 LDL-receptor class B 2. cell-matrix adhesion basement membrane calcium ion binding large_intestine(1)|pancreas(1) 2 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) CGTCCAGCTTCGCCACTTCTA 0.498 NA 5 151 0 0 0.001168 0 0 MTR 4548 broad.mit.edu 37 1 237049656 237049656 + Missense_Mutation SNP A A C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr1:237049656A>C uc001hyi.3 + 27 3263 c.2840A>C c.(2839-2841)GAA>GCA p.E947A MTR_uc010pxw.1_Missense_Mutation_p.E540A|MTR_uc010pxx.1_Missense_Mutation_p.E896A|MTR_uc010pxy.1_Missense_Mutation_p.E801A NM_000254 NP_000245 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine 947 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) TGGCTGTCTGAACCTCACCCA 0.413 NA 20 77 0 0 0.012319 0 0 SDCCAG8 10806 broad.mit.edu 37 1 243493899 243493899 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr1:243493899G>C uc001hzw.2 + 10 1282 c.1126G>C c.(1126-1128)GAA>CAA p.E376Q SDCCAG8_uc010pyk.1_Missense_Mutation_p.E231Q|SDCCAG8_uc010pyl.1_Missense_Mutation_p.E188Q|SDCCAG8_uc001hzx.2_Missense_Mutation_p.E188Q NM_006642 NP_006633 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 376 Potential.|Sufficient for homodimerization (By similarity). establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation cell-cell junction|centriole|cytosol protein binding 0 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) GGAGCGACTTGAAAAAGAACT 0.443 NA 3 79 0 0 0.004672 0 0 OR2M7 391196 broad.mit.edu 37 1 248487240 248487240 + Missense_Mutation SNP C C G rs146462189 byFrequency TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr1:248487240C>G uc010pzk.1 - 1 631 c.631G>C c.(631-633)GTT>CTT p.V211L NM_001004691 NP_001004691 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, 211 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATGATTGCAACAGGGAAAACA 0.423 NA 274 294 0 0 0.01441 0 0 CSGALNACT2 55454 broad.mit.edu 37 10 43678736 43678736 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr10:43678736G>C uc001jan.2 + 8 1710 c.1375G>C c.(1375-1377)GAT>CAT p.D459H NM_018590 NP_061060 Q8N6G5 CGAT2_HUMAN chondroitin sulfate 459 Lumenal (Potential). chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Golgi cisterna membrane|integral to Golgi membrane glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding ovary(1) 1 GGGTGGAGAAGATGTTCATCT 0.423 NA 7 300 0 0 0.00308 0 0 JMJD1C 221037 broad.mit.edu 37 10 64944420 64944420 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr10:64944420C>G uc001jmn.2 - 21 7209 c.6909G>C c.(6907-6909)TTG>TTC p.L2303F JMJD1C_uc001jml.2_Missense_Mutation_p.L2066F|JMJD1C_uc001jmm.2_Missense_Mutation_p.L2015F|JMJD1C_uc010qiq.1_Missense_Mutation_p.L2121F|JMJD1C_uc009xpi.2_Missense_Mutation_p.L2121F|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmo.2_Missense_Mutation_p.L210F NM_032776 NP_116165 Q15652 JHD2C_HUMAN jumonji domain containing 1C isoform a 2303 JmjC. blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding ovary(4)|breast(1)|central_nervous_system(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) AAAATCCTGGCAAATGAGAGG 0.373 NA 4 119 0 0 0.009096 0 0 MRPS16 51021 broad.mit.edu 37 10 75010727 75010727 + Silent SNP C C A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr10:75010727C>A uc001jts.1 - 3 508 c.297G>T c.(295-297)CTG>CTT p.L99L DNAJC9_uc010qkg.1_5'Flank|MRPS16_uc010qkh.1_Intron|MRPS16_uc001jtt.1_RNA|uc001jtu.1_5'Flank NM_016065 NP_057149 Q9Y3D3 RT16_HUMAN mitochondrial ribosomal protein S16 precursor 99 translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome 0 Prostate(51;0.0119) TCATAGGATGCAGAGGGAAAA 0.428 NA 59 113 7.92265e-33 9.87886e-33 0.01441 1 0 MRPS16 51021 broad.mit.edu 37 10 75011685 75011685 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr10:75011685G>C uc001jts.1 - 2 321 c.110C>G c.(109-111)GCT>GGT p.A37G MRPS16_uc010qkh.1_RNA|MRPS16_uc001jtt.1_RNA|uc001jtu.1_5'Flank NM_016065 NP_057149 Q9Y3D3 RT16_HUMAN mitochondrial ribosomal protein S16 precursor 37 translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome 0 Prostate(51;0.0119) CTTGTTGTGAGCAGCCACAAT 0.572 NA 4 28 0 0 0.007413 0 0 CYP2C8 1558 broad.mit.edu 37 10 96818250 96818250 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr10:96818250G>C uc001kkb.2 - 5 756 c.661C>G c.(661-663)CTA>GTA p.L221V CYP2C8_uc001kkc.2_RNA|CYP2C8_uc010qoa.1_Missense_Mutation_p.L151V|CYP2C8_uc010qob.1_Missense_Mutation_p.L135V|CYP2C8_uc010qoc.1_Missense_Mutation_p.L119V|CYP2C8_uc010qod.1_Missense_Mutation_p.L135V NM_000770 NP_000761 P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, 221 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding 0 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) TCAATGAGTAGAGGGAAATTA 0.323 NA 17 39 0 0 0.007413 0 0 SFXN3 81855 broad.mit.edu 37 10 102799248 102799248 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr10:102799248C>G uc001ksp.2 + 12 1340 c.884C>G c.(883-885)TCC>TGC p.S295C SFXN3_uc001ksq.2_Missense_Mutation_p.S295C|SFXN3_uc010qpx.1_Missense_Mutation_p.S299C NM_030971 NP_112233 Q9BWM7 SFXN3_HUMAN sideroflexin 3 295 iron ion homeostasis integral to membrane|mitochondrial membrane cation transmembrane transporter activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) TATTGCAGCTCCATACACATA 0.537 NA 9 239 0 0 0.010729 0 0 RAB11FIP2 22841 broad.mit.edu 37 10 119798615 119798615 + Missense_Mutation SNP C C A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr10:119798615C>A uc001ldj.1 - 3 1573 c.1133G>T c.(1132-1134)GGG>GTG p.G378V RAB11FIP2_uc009xyz.1_Missense_Mutation_p.G378V NM_014904 NP_055719 Q7L804 RFIP2_HUMAN RAB11 family interacting protein 2 378 protein transport plasma membrane|recycling endosome membrane protein homodimerization activity 0 Colorectal(252;0.235) all cancers(201;0.0238) ATCAGATCCCCCATTGTTAAG 0.348 NA 56 101 4.88482e-21 5.99839e-21 0.01441 1 0 MKI67 4288 broad.mit.edu 37 10 129902254 129902254 + Missense_Mutation SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr10:129902254G>A uc001lke.2 - 13 8045 c.7850C>T c.(7849-7851)TCA>TTA p.S2617L MKI67_uc001lkf.2_Missense_Mutation_p.S2257L|MKI67_uc009yav.1_Missense_Mutation_p.S2192L|MKI67_uc009yaw.1_Missense_Mutation_p.S1767L NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 2617 14.|16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CTCAACTGCTGAGAGCTCCTC 0.507 NA 7 227 0 0 0.001984 0 0 MUC5B 727897 broad.mit.edu 37 11 1275485 1275485 + Silent SNP C C A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr11:1275485C>A uc009ycr.1 + 55 16512 c.16386C>A c.(16384-16386)GCC>GCA p.A5462A MUC5B_uc001ltb.2_Silent_p.A5130A NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CTGCCACTGCCGCTGCCGCCC 0.607 NA 14 15 1.42536e-11 1.69865e-11 0.004656 1 0 ZNF195 7748 broad.mit.edu 37 11 3380816 3380816 + Silent SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr11:3380816G>A uc001lxt.2 - 6 1600 c.1422C>T c.(1420-1422)GTC>GTT p.V474V uc001lxr.2_5'Flank|ZNF195_uc001lxv.2_Silent_p.V451V|ZNF195_uc001lxs.2_Silent_p.V402V|ZNF195_uc010qxr.1_Silent_p.V455V|ZNF195_uc009ydz.2_Silent_p.V429V|ZNF195_uc001lxu.2_Silent_p.V406V NM_001130520 NP_001123992 O14628 ZN195_HUMAN zinc finger protein 195 isoform 1 474 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965) BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2) AAGTTCTGAAGACCTTCCCAC 0.443 NA 75 107 0 0 0.01441 0 0 OR52B2 255725 broad.mit.edu 37 11 6191554 6191554 + Missense_Mutation SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr11:6191554C>T uc010qzy.1 - 1 3 c.3G>A c.(1-3)ATG>ATA p.M1I NM_001004052 NP_001004052 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, 1 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGTGTGACTCATGATGCACT 0.418 NSCLC(5;186 261 1778 7098 14207) NA 22 40 0 0 0.00278 0 0 SLC6A5 9152 broad.mit.edu 37 11 20622793 20622793 + Missense_Mutation SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr11:20622793C>T uc001mqd.2 + 2 395 c.122C>T c.(121-123)CCC>CTC p.P41L SLC6A5_uc009yic.2_5'UTR NM_004211 NP_004202 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter 41 Cytoplasmic (Potential). synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(2)|breast(1)|skin(1) 4 Glycine(DB00145) CAGGAGCTTCCCGCGGCTGCC 0.726 NA 3 1 0 0 0.009096 0 0 OR5AS1 219447 broad.mit.edu 37 11 55798482 55798482 + Missense_Mutation SNP G G T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr11:55798482G>T uc010riw.1 + 1 588 c.588G>T c.(586-588)CAG>CAT p.Q196H NM_001001921 NP_001001921 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, 196 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|liver(1)|skin(1) 5 Esophageal squamous(21;0.00693) AGATCAACCAGCTTCTGCTCT 0.413 NA 165 325 4.72421e-73 6.00182e-73 0.01441 1 0 OR8H2 390151 broad.mit.edu 37 11 55873052 55873052 + Silent SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr11:55873052C>T uc010riy.1 + 1 534 c.534C>T c.(532-534)TTC>TTT p.F178F NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, 178 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Esophageal squamous(21;0.00693) ATCACTTTTTCTGTGACACTT 0.418 NA HNSCC(53;0.14) 37 294 0 0 0.009718 0 0 OR4D9 390199 broad.mit.edu 37 11 59282631 59282631 + Silent SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr11:59282631G>A uc010rkv.1 + 1 246 c.246G>A c.(244-246)CTG>CTA p.L82L NM_001004711 NP_001004711 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, 82 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CTAAGGTCCTGATAGATCTTC 0.463 NA 7 197 0 0 0.001984 0 0 AHNAK 79026 broad.mit.edu 37 11 62292702 62292702 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr11:62292702G>C uc001ntl.2 - 5 9487 c.9187C>G c.(9187-9189)CCA>GCA p.P3063A AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 3063 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TTCACATCTGGAACATCAATG 0.498 NA 6 342 0 0 0.001168 0 0 SLC3A2 6520 broad.mit.edu 37 11 62656063 62656063 + Silent SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr11:62656063C>T uc001nwd.2 + 12 2015 c.1791C>T c.(1789-1791)CTC>CTT p.L597L SLC3A2_uc001nwb.2_Silent_p.L628L|SLC3A2_uc001nwc.2_Silent_p.L598L|SLC3A2_uc001nwe.2_Silent_p.L566L|SLC3A2_uc001nwf.2_Silent_p.L535L|SLC3A2_uc001nwg.2_Silent_p.L496L NM_002394 NP_002385 P08195 4F2_HUMAN solute carrier family 3, member 2 isoform c 597 Extracellular (Potential). blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport apical plasma membrane|cell surface|integral to membrane|melanosome calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding 0 ACCTCCTGCTCAGCACCCAGC 0.662 NA 18 62 0 0 0.008361 0 0 RPS6KA4 8986 broad.mit.edu 37 11 64128005 64128005 + Missense_Mutation SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr11:64128005G>A uc001oae.2 + 4 486 c.403G>A c.(403-405)GAG>AAG p.E135K RPS6KA4_uc001oad.2_Missense_Mutation_p.E135K|RPS6KA4_uc010rnl.1_Missense_Mutation_p.E72K|RPS6KA4_uc001oaf.2_Missense_Mutation_p.E135K|RPS6KA4_uc009ypp.2_Missense_Mutation_p.E135K NM_003942 NP_003933 O75676 KS6A4_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 135 Protein kinase 1. axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity lung(3)|ovary(1)|breast(1) 5 GTACTTCAAGGAGGCTGAGGT 0.612 NA 4 13 0 0 0.001168 0 0 ACER3 55331 broad.mit.edu 37 11 76637694 76637694 + Missense_Mutation SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr11:76637694C>T uc009yum.1 + 2 301 c.197C>T c.(196-198)TCT>TTT p.S66F ACER3_uc010rsg.1_Missense_Mutation_p.S24F|ACER3_uc009yul.1_RNA|ACER3_uc001oxu.2_RNA|ACER3_uc009yun.1_Missense_Mutation_p.S24F|ACER3_uc009yuo.1_5'UTR|ACER3_uc010rsh.1_Intron|ACER3_uc010rsi.1_5'UTR|ACER3_uc010rsj.1_5'UTR NM_018367 NP_060837 Q9NUN7 ACER3_HUMAN phytoceramidase, alkaline 66 Helical; (Potential). ceramide metabolic process|phytosphingosine biosynthetic process|positive regulation of cell proliferation|sphingosine biosynthetic process integral to endoplasmic reticulum membrane|integral to Golgi membrane phytoceramidase activity 0 TACATTGCTTCTTATTTAGCA 0.378 NA 12 65 0 0 0.00245 0 0 TMEM123 114908 broad.mit.edu 37 11 102272716 102272716 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr11:102272716G>C uc001pha.2 - 3 800 c.379C>G c.(379-381)CAG>GAG p.Q127E TMEM123_uc009yxc.2_Missense_Mutation_p.Q108E NM_052932 NP_443164 Q8N131 PORIM_HUMAN transmembrane protein 123 precursor 127 Thr-rich.|Extracellular (Potential). oncosis external side of plasma membrane|integral to membrane receptor activity breast(2) 2 all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0149) GTTGATATCTGAGATGTGTTC 0.388 NA 15 284 0 0 0.003163 0 0 ATM 472 broad.mit.edu 37 11 108159736 108159736 + Missense_Mutation SNP T T G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr11:108159736T>G uc001pkb.1 + 28 4527 c.4142T>G c.(4141-4143)TTT>TGT p.F1381C ATM_uc009yxr.1_Missense_Mutation_p.F1381C|ATM_uc001pkd.3_Missense_Mutation_p.F33C|ATM_uc001pke.1_Missense_Mutation_p.F33C|ATM_uc010rvw.1_Missense_Mutation_p.F33C|ATM_uc001pkf.2_Missense_Mutation_p.F33C NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 1381 Interaction with ABL1. 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) CCACCTCATTTTCCATCGCAT 0.348 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) 4 121 0 0 0.001168 0 0 EXPH5 23086 broad.mit.edu 37 11 108412521 108412521 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr11:108412521C>G uc001pkk.2 - 2 249 c.138G>C c.(136-138)AAG>AAC p.K46N EXPH5_uc010rwa.1_5'UTR NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 46 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) TGATATCCCTCTTTGTCTTCT 0.303 NA 4 136 0 0 0.000602 0 0 VPS11 55823 broad.mit.edu 37 11 118948942 118948942 + Silent SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr11:118948942C>T uc010ryx.1 + 12 1863 c.1821C>T c.(1819-1821)TTC>TTT p.F607F VPS11_uc010ryy.1_Silent_p.F453F NM_021729 NP_068375 Q9H270 VPS11_HUMAN vacuolar protein sorting 11 607 protein transport endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane nucleotide binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(1) 3 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.88e-05) TGAAAGCCTTCCTAGAGCACA 0.552 NA 9 267 0 0 0.008291 0 0 GRIK4 2900 broad.mit.edu 37 11 120852826 120852826 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr11:120852826G>C uc001pxn.2 + 20 2694 c.2407G>C c.(2407-2409)GAG>CAG p.E803Q GRIK4_uc009zaw.1_Missense_Mutation_p.E803Q|GRIK4_uc009zax.1_Missense_Mutation_p.E803Q NM_014619 NP_055434 Q16099 GRIK4_HUMAN glutamate receptor KA1 precursor 803 Extracellular (Potential). glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|central_nervous_system(1) 3 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) CCTGGGAATGGAGAATATTGG 0.338 NA 6 323 0 0 0.001168 0 0 SORL1 6653 broad.mit.edu 37 11 121420743 121420743 + Missense_Mutation SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr11:121420743C>T uc001pxx.2 + 15 2206 c.2126C>T c.(2125-2127)TCA>TTA p.S709L NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 709 Extracellular (Potential). cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1) 15 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) TCTGGAAAGTCATACTCCCCT 0.473 NA 8 112 0 0 0.004482 0 0 KCNJ5 3762 broad.mit.edu 37 11 128781480 128781480 + Silent SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr11:128781480C>T uc001qet.2 + 2 626 c.312C>T c.(310-312)TTC>TTT p.F104F KCNJ5_uc009zck.2_Silent_p.F104F|KCNJ5_uc001qew.2_Silent_p.F104F NM_000890 NP_000881 P48544 IRK5_HUMAN potassium inwardly-rectifying channel J5 104 Helical; Name=M1; (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding skin(1) 1 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) GGCTGTTCTTCGGCTTCATTT 0.527 Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231) NA 12 120 0 0 0.001855 0 0 GALNT8 26290 broad.mit.edu 37 12 4870202 4870202 + Missense_Mutation SNP G G T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr12:4870202G>T uc001qne.1 + 7 1344 c.1252G>T c.(1252-1254)GCC>TCC p.A418S NM_017417 NP_059113 Q9NY28 GALT8_HUMAN polypeptide N-acetylgalactosaminyltransferase 8 418 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(1)|skin(1) 4 CAAGCCCTACGCCTTGGATCT 0.537 Colon(108;631 1558 7270 20097 39846) NA 49 65 2.9001e-28 3.60505e-28 0.01441 1 0 TAS2R31 259290 broad.mit.edu 37 12 11183031 11183032 + Missense_Mutation DNP TC TC CA TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 TC TC - - TC TC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr12:11183031_11183032TC>CA uc001qzo.1 - 1 975_976 c.903_904GA>TG c.(901-906)GTGAAA>GTTGAA p.K302E PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_176885 NP_795366 P59538 T2R31_HUMAN taste receptor, type 2, member 31 302 Cytoplasmic (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity 0 TTCTCTCCTTTCACCCAGTACC 0.411 NA 7 225 0 0 0.004672 0 0 GPRC5A 9052 broad.mit.edu 37 12 13065462 13065462 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr12:13065462G>C uc001rba.2 + 4 1713 c.1063G>C c.(1063-1065)GAG>CAG p.E355Q uc001rbb.3_5'Flank NM_003979 NP_003970 Q8NFJ5 RAI3_HUMAN G protein-coupled receptor, family C, group 5, 355 Cytoplasmic (Potential). cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane G-protein coupled receptor activity 0 Prostate(47;0.141) BRCA - Breast invasive adenocarcinoma(232;0.0708) Tretinoin(DB00755) AGTAAAGAAAGAGGGCAGCTA 0.527 NA 4 170 0 0 0.000602 0 0 KRT75 9119 broad.mit.edu 37 12 52826902 52826902 + Silent SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr12:52826902C>T uc001saj.2 - 2 655 c.633G>A c.(631-633)CTG>CTA p.L211L NM_004693 NP_004684 O95678 K2C75_HUMAN keratin 75 211 Coil 1B.|Rod. keratin filament structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.192) TGATGCTTTCCAGCTGCCGTC 0.557 NA 5 176 0 0 0.000602 0 0 SP1 6667 broad.mit.edu 37 12 53777321 53777321 + Silent SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr12:53777321G>A uc001scw.2 + 3 1687 c.1590G>A c.(1588-1590)CAG>CAA p.Q530Q SP1_uc010sog.1_Silent_p.Q523Q NM_138473 NP_612482 P08047 SP1_HUMAN Sp1 transcription factor isoform a 530 Transactivation domain C (highly charged). positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter cytoplasm double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(357;0.00527) CAGGCCTCCAGACCATTAACC 0.532 NA 5 177 0 0 0.001984 0 0 PDE1B 5153 broad.mit.edu 37 12 54968907 54968907 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr12:54968907C>G uc001sgd.1 + 11 1256 c.1090C>G c.(1090-1092)CTA>GTA p.L364V PDE1B_uc010soz.1_Missense_Mutation_p.L227V|PDE1B_uc010spa.1_Missense_Mutation_p.L323V|PDE1B_uc001sgf.2_Missense_Mutation_p.L227V|PDE1B_uc001sge.2_Missense_Mutation_p.L344V|PDE1B_uc009znq.2_Missense_Mutation_p.L160V NM_000924 NP_000915 Q01064 PDE1B_HUMAN phosphodiesterase 1B isoform 1 364 Catalytic (By similarity). activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding upper_aerodigestive_tract(1)|ovary(1) 2 GGCCCTGTCTCTACTGCTCCA 0.542 NA 5 135 0 0 0.001168 0 0 BAZ2A 11176 broad.mit.edu 37 12 57009066 57009066 + Missense_Mutation SNP A A T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr12:57009066A>T uc001slq.1 - 3 662 c.468T>A c.(466-468)AGT>AGA p.S156R BAZ2A_uc001slp.1_Missense_Mutation_p.S154R|BAZ2A_uc010sqr.1_Missense_Mutation_p.S156R|BAZ2A_uc009zow.1_Missense_Mutation_p.S154R NM_013449 NP_038477 Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 156 chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding 0 GCCCCATGGGACTCTGGGTAC 0.522 NA 24 41 0 0 0.00333 0 0 INHBE 83729 broad.mit.edu 37 12 57850041 57850041 + Missense_Mutation SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr12:57850041C>T uc001snw.2 + 2 687 c.463C>T c.(463-465)CGC>TGC p.R155C NM_031479 NP_113667 P58166 INHBE_HUMAN activin beta E precursor 155 growth extracellular region growth factor activity|hormone activity breast(2)|central_nervous_system(1) 3 CCAAGGGTCCCGCACTCTCCT 0.602 GBM(191;1808 2166 15720 36624 50371) NA OREG0021944 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 152 238 0 0 0.01441 0 0 DDIT3 1649 broad.mit.edu 37 12 57910715 57910715 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr12:57910715C>G uc001soi.2 - 4 567 c.387G>C c.(385-387)AGG>AGC p.R129S MARS_uc001sof.1_Intron|DDIT3_uc009zps.2_Missense_Mutation_p.R152S|DDIT3_uc009zpt.2_Missense_Mutation_p.R152S NM_004083 NP_004074 P35638 DDIT3_HUMAN DNA-damage-inducible transcript 3 129 cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding FUS/DDIT3(623)|EWSR1/DDIT3(43) soft_tissue(666)|large_intestine(1)|central_nervous_system(1)|lung(1)|skin(1)|ovary(1) 671 GTGCCACTTTCCTTTCATTCT 0.542 GBM(112;1383 1547 7626 23045 28770) NA T FUS liposarcoma 4 272 0 0 0.009096 0 0 CCT2 10576 broad.mit.edu 37 12 69993722 69993722 + Silent SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr12:69993722G>C uc001svb.1 + 15 1609 c.1515G>C c.(1513-1515)CTG>CTC p.L505L CCT2_uc009zrm.1_RNA|CCT2_uc009zrn.1_Intron|CCT2_uc010stl.1_Silent_p.L458L NM_006431 NP_006422 P78371 TCPB_HUMAN chaperonin containing TCP1, subunit 2 505 'de novo' posttranslational protein folding nucleus ATP binding|unfolded protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) AGGTTCTTCTGAGTGCAGCTG 0.433 NA 5 84 0 0 0.001168 0 0 ACTR6 64431 broad.mit.edu 37 12 100606231 100606231 + Silent SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr12:100606231G>A uc001thb.1 + 8 731 c.675G>A c.(673-675)TTG>TTA p.L225L ACTR6_uc001thc.1_Silent_p.L117L|ACTR6_uc001thd.1_Silent_p.L225L|ACTR6_uc009ztu.1_Silent_p.L30L|ACTR6_uc001the.1_Silent_p.L143L|ACTR6_uc001thf.1_Silent_p.L143L|uc001thg.1_Intron NM_022496 NP_071941 Q9GZN1 ARP6_HUMAN ARP6 actin-related protein 6 homolog 225 cytoplasm|cytoskeleton ovary(1) 1 TTTCCAGGTTGAAAGGAGAAG 0.289 NA 4 119 0 0 0.009096 0 0 DEPDC4 120863 broad.mit.edu 37 12 100649949 100649949 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr12:100649949G>C uc001thi.2 - 4 759 c.756C>G c.(754-756)TTC>TTG p.F252L DEPDC4_uc001thh.1_RNA|DEPDC4_uc001thj.1_Missense_Mutation_p.F198L|DEPDC4_uc009ztv.1_Missense_Mutation_p.F252L|DEPDC4_uc001thk.1_Missense_Mutation_p.F63L|DEPDC4_uc001thl.1_RNA NM_152317 NP_689530 Q8N2C3 DEPD4_HUMAN DEP domain containing 4 252 intracellular signal transduction 0 TATTGTCCAAGAATGGAAGGT 0.323 NA 4 83 0 0 0.009096 0 0 ARPC3 10094 broad.mit.edu 37 12 110874419 110874419 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr12:110874419C>G uc001tqq.2 - 5 415 c.322G>C c.(322-324)GAG>CAG p.E108Q NM_005719 NP_005710 O15145 ARPC3_HUMAN actin related protein 2/3 complex subunit 3 108 cellular component movement|regulation of actin filament polymerization Arp2/3 protein complex|cytoplasm actin binding|structural constituent of cytoskeleton ovary(1) 1 AAACCAGGCTCTCCAGGAATG 0.368 NA 4 253 0 0 0.000602 0 0 SKA3 221150 broad.mit.edu 37 13 21742491 21742491 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr13:21742491C>G uc001unt.2 - 4 473 c.379G>C c.(379-381)GAA>CAA p.E127Q SKA3_uc001unv.2_Missense_Mutation_p.E45Q|SKA3_uc001unu.2_Missense_Mutation_p.E127Q NM_145061 NP_659498 Q8IX90 SKA3_HUMAN SKA3 127 cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization condensed chromosome outer kinetochore|cytoplasm|spindle microtubule protein binding 0 TGAAAATTTTCACAATTAGAC 0.393 NA 3 115 0 0 0.009096 0 0 CENPJ 55835 broad.mit.edu 37 13 25480067 25480067 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr13:25480067G>C uc001upt.3 - 7 2362 c.2109C>G c.(2107-2109)AGC>AGG p.S703R CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA|CENPJ_uc001upu.2_5'Flank NM_018451 NP_060921 Q9HC77 CENPJ_HUMAN centromere protein J 703 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding ovary(2) 2 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) CAGAGTCAGTGCTACTGTCAC 0.463 NA 4 118 0 0 0.000602 0 0 BRCA2 675 broad.mit.edu 37 13 32913027 32913027 + Missense_Mutation SNP G G A rs80358685 TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr13:32913027G>A uc001uub.1 + 11 4762 c.4535G>A c.(4534-4536)CGT>CAT p.R1512H NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 1512 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) CAACCCGAACGTGATGAAAAG 0.378 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) 4 58 0 0 0.009096 0 0 RCBTB1 55213 broad.mit.edu 37 13 50123709 50123709 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr13:50123709C>G uc001vde.1 - 9 1191 c.930G>C c.(928-930)TGG>TGC p.W310C NM_018191 NP_060661 Q8NDN9 RCBT1_HUMAN regulator of chromosome condensation (RCC1) and 310 RCC1 6. cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(1) 1 Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;4.7e-09) GGCACTGGCCCCACATGTACA 0.592 NA 11 51 0 0 0.010729 0 0 KLF12 11278 broad.mit.edu 37 13 74387368 74387368 + Missense_Mutation SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr13:74387368C>T uc001vjf.2 - 5 949 c.727G>A c.(727-729)GAT>AAT p.D243N KLF12_uc010aeq.2_Missense_Mutation_p.D243N|KLF12_uc001vjg.3_Missense_Mutation_p.D243N NM_007249 NP_009180 Q9Y4X4 KLF12_HUMAN Kruppel-like factor 12 243 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1) 1 Prostate(6;0.00217)|Breast(118;0.0838) GBM - Glioblastoma multiforme(99;0.00677) GGCAGGTCATCATCATCACTG 0.438 NA 6 141 0 0 0.001984 0 0 FBXL3 26224 broad.mit.edu 37 13 77589622 77589622 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr13:77589622G>C uc001vkd.2 - 4 936 c.565C>G c.(565-567)CTC>GTC p.L189V NM_012158 NP_036290 Q9UKT7 FBXL3_HUMAN F-box and leucine-rich repeat protein 3 189 LRR 2. regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytoplasm|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity 0 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218) GBM - Glioblastoma multiforme(99;0.0521) AGTACTTTGAGAGATGGATCA 0.413 NA 21 116 0 0 0.00278 0 0 ABCC4 10257 broad.mit.edu 37 13 95735399 95735399 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr13:95735399G>C uc001vmd.3 - 21 2800 c.2681C>G c.(2680-2682)TCT>TGT p.S894C ABCC4_uc010afk.2_Missense_Mutation_p.S847C NM_005845 NP_005836 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C, member 4 894 ABC transmembrane type-1 2. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity central_nervous_system(3)|skin(1) 4 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) CTCACTTGTAGATTCCAGGCG 0.428 NA 4 125 0 0 0.000602 0 0 ATP11A 23250 broad.mit.edu 37 13 113514624 113514624 + Silent SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr13:113514624G>A uc001vsi.3 + 24 2839 c.2751G>A c.(2749-2751)CTG>CTA p.L917L ATP11A_uc001vsj.3_Silent_p.L917L|ATP11A_uc001vsm.1_Silent_p.L793L|ATP11A_uc010ago.2_Intron NM_015205 NP_056020 P98196 AT11A_HUMAN ATPase, class VI, type 11A isoform a 917 Helical; (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity large_intestine(2)|ovary(2) 4 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) CCGCGTATCTGACCCTCTACA 0.468 NA 6 194 0 0 0.001984 0 0 COCH 1690 broad.mit.edu 37 14 31349863 31349863 + Silent SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr14:31349863G>A uc001wqr.2 + 8 632 c.552G>A c.(550-552)CAG>CAA p.Q184Q COCH_uc001wqp.2_Silent_p.Q184Q|COCH_uc001wqq.3_Silent_p.Q184Q|uc001wqs.2_Intron|COCH_uc001wqt.1_5'UTR NM_004086 NP_004077 O43405 COCH_HUMAN cochlin precursor 184 VWFA 1. sensory perception of sound proteinaceous extracellular matrix pancreas(1)|central_nervous_system(1)|skin(1) 3 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.00645) TTAATTTACAGAAGAATTTTG 0.418 NA 5 257 0 0 0.001168 0 0 SDCCAG1 9147 broad.mit.edu 37 14 50267175 50267175 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr14:50267175C>G uc001wxc.2 - 23 2403 c.2335G>C c.(2335-2337)GAT>CAT p.D779H SDCCAG1_uc010anj.1_Missense_Mutation_p.D779H|SDCCAG1_uc001wwz.2_5'Flank|SDCCAG1_uc001wxa.2_Missense_Mutation_p.D59H|SDCCAG1_uc010tqi.1_Missense_Mutation_p.D758H|SDCCAG1_uc001wxe.2_Missense_Mutation_p.D737H|SDCCAG1_uc001wxd.1_Missense_Mutation_p.D184H NM_004713 NP_004704 O60524 NEMF_HUMAN serologically defined colon cancer antigen 1 779 cytoplasm|nucleus 0 all_epithelial(31;0.000822)|Breast(41;0.0117) all_lung(585;1.02e-05) OV - Ovarian serous cystadenocarcinoma(311;5.99e-34) ATGGTAGTATCAGGATAATTT 0.343 NA 3 105 0 0 0.004672 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72152196 72152196 + Missense_Mutation SNP G G T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr14:72152196G>T uc001xms.2 + 10 3570 c.3222G>T c.(3220-3222)AAG>AAT p.K1074N SIPA1L1_uc001xmt.2_Missense_Mutation_p.K1074N|SIPA1L1_uc001xmu.2_Missense_Mutation_p.K1074N|SIPA1L1_uc001xmv.2_Missense_Mutation_p.K1074N|SIPA1L1_uc010ttm.1_Missense_Mutation_p.K549N NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1074 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity ovary(3)|breast(1) 4 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ACGCCAGCAAGGGGCCTCATT 0.507 NA 86 56 5.02048e-33 6.27949e-33 0.01441 1 0 SERPINA4 5267 broad.mit.edu 37 14 95033575 95033575 + Silent SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr14:95033575G>A uc001ydk.2 + 3 984 c.918G>A c.(916-918)CGG>CGA p.R306R SERPINA4_uc010avd.2_Silent_p.R343R|SERPINA4_uc001ydl.2_Silent_p.R306R NM_006215 NP_006206 P29622 KAIN_HUMAN serine (or cysteine) proteinase inhibitor, clade 306 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity ovary(3)|skin(1) 4 COAD - Colon adenocarcinoma(157;0.211) ACTTGTTGCGGAAGAGGTAAT 0.438 NA 4 114 0 0 0.000602 0 0 AHNAK2 113146 broad.mit.edu 37 14 105413013 105413013 + Silent SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr14:105413013C>T uc010axc.1 - 7 8895 c.8775G>A c.(8773-8775)CTG>CTA p.L2925L AHNAK2_uc001ypx.2_Silent_p.L2825L NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2925 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TGGGGCCTTTCAGGTCCAGCT 0.632 NA 16 388 0 0 0.004007 0 0 AHNAK2 113146 broad.mit.edu 37 14 105413043 105413043 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr14:105413043C>G uc010axc.1 - 7 8865 c.8745G>C c.(8743-8745)CAG>CAC p.Q2915H AHNAK2_uc001ypx.2_Missense_Mutation_p.Q2815H NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2915 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TGACGTCTATCTGGGGGCCCT 0.652 NA 17 420 0 0 0.006122 0 0 GABRB3 2562 broad.mit.edu 37 15 26793029 26793029 + Missense_Mutation SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr15:26793029C>T uc001zaz.2 - 9 1475 c.1333G>A c.(1333-1335)GTG>ATG p.V445M GABRB3_uc010uae.1_Missense_Mutation_p.V360M|GABRB3_uc001zba.2_Missense_Mutation_p.V445M|GABRB3_uc001zbb.2_Missense_Mutation_p.V501M NM_000814 NP_000805 P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 445 Cytoplasmic (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1) 5 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) ATGGCATTCACATCGGTTAGA 0.453 NA 44 87 0 0 0.01441 0 0 BUB1B 701 broad.mit.edu 37 15 40505533 40505533 + Missense_Mutation SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr15:40505533G>A uc001zkx.3 + 20 2748 c.2536G>A c.(2536-2538)GAT>AAT p.D846N NM_001211 NP_001202 O60566 BUB1B_HUMAN budding uninhibited by benzimidazoles 1 beta 846 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity stomach(2)|ovary(1)|kidney(1) 4 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) CAATTTCCAGGATCTTCTCCA 0.348 NA Mis|N|F|S rhabdomyosarcoma Mosaic_Variegated_Aneuploidy_Syndrome 32 59 0 0 0.003271 0 0 OIP5 11339 broad.mit.edu 37 15 41624440 41624440 + Missense_Mutation SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr15:41624440G>A uc001znp.2 - 1 380 c.320C>T c.(319-321)TCC>TTC p.S107F NUSAP1_uc001znq.3_5'Flank|NUSAP1_uc001znr.3_5'Flank|NUSAP1_uc001zns.3_5'Flank|NUSAP1_uc010bce.2_5'Flank|NUSAP1_uc001znt.3_5'Flank|NUSAP1_uc001znv.3_5'Flank|NUSAP1_uc001znu.3_5'Flank|NUSAP1_uc010ucw.1_5'Flank NM_007280 NP_009211 O43482 MS18B_HUMAN Opa interacting protein 5 107 cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis Cajal body|chromatin|chromosome, centromeric region protein binding 0 all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175) OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163) GCACTCACTGGAGAAGACCAC 0.647 NA OREG0023073 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 54 0 0 0.004482 0 0 JMJD7-PLA2G4B 8681 broad.mit.edu 37 15 42139578 42139578 + Missense_Mutation SNP C C T rs145043086 TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr15:42139578C>T uc010bco.2 + 19 2092 c.1991C>T c.(1990-1992)CCG>CTG p.P664L JMJD7-PLA2G4B_uc001zoo.3_Missense_Mutation_p.P895L|JMJD7-PLA2G4B_uc010bcn.2_Intron|JMJD7-PLA2G4B_uc001zoq.3_Missense_Mutation_p.P365L NM_001114633 NP_001108105 P0C869 PA24B_HUMAN phospholipase A2, group IVB 664 PLA2c. arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition cytosol|early endosome membrane|extracellular region|mitochondrial membrane calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity large_intestine(1) 1 CAGGGGATCCCGTTCCCACCC 0.687 NA 50 129 0 0 0.01441 0 0 LCMT2 9836 broad.mit.edu 37 15 43620678 43620678 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr15:43620678G>C uc001zrg.2 - 1 2214 c.2010C>G c.(2008-2010)TTC>TTG p.F670L LCMT2_uc010udn.1_Missense_Mutation_p.F249L|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank NM_014793 NP_055608 O60294 LCMT2_HUMAN leucine carboxyl methyltransferase 2 670 tRNA processing methyltransferase activity|protein binding 0 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.1e-07) L-Leucine(DB00149) TATGGGGGTTGAAGTAGGTAC 0.438 NA 16 132 0 0 0.00499 0 0 LCMT2 9836 broad.mit.edu 37 15 43622436 43622436 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr15:43622436C>G uc001zrg.2 - 1 456 c.252G>C c.(250-252)CAG>CAC p.Q84H LCMT2_uc010udn.1_Intron|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank NM_014793 NP_055608 O60294 LCMT2_HUMAN leucine carboxyl methyltransferase 2 84 tRNA processing methyltransferase activity|protein binding 0 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.1e-07) L-Leucine(DB00149) GAGACAAGATCTGCGCGCGAA 0.647 NA 4 50 0 0 0.000602 0 0 GCNT3 9245 broad.mit.edu 37 15 59910672 59910672 + Missense_Mutation SNP G G C rs143474619 TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr15:59910672G>C uc002age.2 + 3 684 c.235G>C c.(235-237)GAG>CAG p.E79Q GCNT3_uc002agd.2_Missense_Mutation_p.E79Q NM_004751 NP_004742 O95395 GCNT3_HUMAN glucosaminyl (N-acetyl) transferase 3, mucin 79 Lumenal (Potential). protein O-linked glycosylation Golgi membrane|integral to membrane|membrane fraction beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity ovary(1)|central_nervous_system(1) 2 AGGGGACCAAGAGGCAGTGCT 0.488 NA 7 242 0 0 0.001984 0 0 IGDCC4 57722 broad.mit.edu 37 15 65676690 65676690 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr15:65676690G>C uc002aou.1 - 20 3620 c.3410C>G c.(3409-3411)TCT>TGT p.S1137C IGDCC4_uc002aot.1_Missense_Mutation_p.S725C NM_020962 NP_066013 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 1137 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(1)|pancreas(1)|skin(1) 3 ACTAAAGTCAGAGTGGACAAT 0.552 NA 3 142 0 0 0.004672 0 0 THSD4 79875 broad.mit.edu 37 15 72020963 72020963 + Missense_Mutation SNP G G T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr15:72020963G>T uc002atb.1 + 8 1512 c.1433G>T c.(1432-1434)GGA>GTA p.G478V THSD4_uc002atd.1_Missense_Mutation_p.G152V|THSD4_uc010ukg.1_Missense_Mutation_p.G118V|THSD4_uc002ate.2_Missense_Mutation_p.G118V NM_024817 NP_079093 Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 478 proteinaceous extracellular matrix metalloendopeptidase activity ovary(2) 2 TACGAGGGCGGAGGGACCATG 0.507 NA 8 184 3.09899e-07 3.63951e-07 0.004482 1 0 MAN2C1 4123 broad.mit.edu 37 15 75654689 75654689 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr15:75654689C>G uc002baf.2 - 8 1020 c.1003G>C c.(1003-1005)GAG>CAG p.E335Q MAN2C1_uc002bag.2_Missense_Mutation_p.E335Q|MAN2C1_uc002bah.2_Missense_Mutation_p.E335Q|MAN2C1_uc010bkk.2_Missense_Mutation_p.E236Q|MAN2C1_uc010umi.1_Missense_Mutation_p.E117Q|MAN2C1_uc010umj.1_RNA NM_006715 NP_006706 Q9NTJ4 MA2C1_HUMAN mannosidase, alpha, class 2C, member 1 335 mannose metabolic process alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding 0 CTTACCATCTCCACCCAGGTG 0.617 NA 7 38 0 0 0.004482 0 0 IL16 3603 broad.mit.edu 37 15 81592196 81592196 + Silent SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr15:81592196C>T uc002bgh.3 + 14 2905 c.2529C>T c.(2527-2529)ATC>ATT p.I843I IL16_uc010blq.1_Silent_p.I797I|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Silent_p.I885I|IL16_uc002bgg.2_Silent_p.I843I|IL16_uc002bgi.1_Silent_p.I233I|IL16_uc002bgj.2_Silent_p.I337I|IL16_uc002bgk.2_Silent_p.I142I|IL16_uc002bgl.1_Silent_p.I142I|IL16_uc010unq.1_Silent_p.I142I NM_172217 NP_757366 Q14005 IL16_HUMAN interleukin 16 isoform 2 843 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity ovary(2)|lung(1)|skin(1) 4 GGCAGAGAATCAGCTCCTTTG 0.522 NA 5 56 0 0 0.000602 0 0 Unknown 0 broad.mit.edu 37 15 102292797 102292797 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr15:102292797C>G uc010usj.1 + 4 444 c.385C>G c.(385-387)CCA>GCA p.P129A uc002bxo.2_RNA|uc002bxp.3_5'Flank|uc002bxt.2_5'Flank|uc002bxz.3_5'Flank|uc002byd.2_5'Flank|uc002bye.2_5'Flank|uc002byf.1_5'Flank|uc002byg.2_5'Flank|uc002byi.2_5'Flank|uc002byk.2_5'Flank|uc002bym.2_5'Flank|uc002byn.2_5'Flank|uc010usm.1_5'Flank RecName: Full=Uncharacterized protein C15orf51.; Flags: Fragment; NA GAGCTGCTGTCCAACCTGCAC 0.597 NA 2 20 0 0 0.004672 0 0 ZNF597 146434 broad.mit.edu 37 16 3486852 3486852 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr16:3486852G>C uc002cvd.2 - 4 1031 c.847C>G c.(847-849)CTT>GTT p.L283V NM_152457 NP_689670 Q96LX8 ZN597_HUMAN zinc finger protein 597 283 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GGCAAAGCAAGATTTGGTTTC 0.453 NA 4 231 0 0 0.009096 0 0 ACSM1 116285 broad.mit.edu 37 16 20638525 20638525 + Silent SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr16:20638525G>A uc002dhm.1 - 10 1481 c.1413C>T c.(1411-1413)ATC>ATT p.I471I ACSM1_uc002dhn.1_Intron|ACSM1_uc010bwg.1_Silent_p.I471I NM_052956 NP_443188 Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 471 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|skin(1) 2 AGGCATTAATGATGTCATCAC 0.488 NA 9 416 0 0 0.004482 0 0 RBBP6 5930 broad.mit.edu 37 16 24581790 24581790 + Missense_Mutation SNP G G T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr16:24581790G>T uc002dmh.2 + 17 4819 c.3779G>T c.(3778-3780)GGA>GTA p.G1260V RBBP6_uc010vcb.1_Missense_Mutation_p.G1127V|RBBP6_uc002dmi.2_Missense_Mutation_p.G1226V|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Missense_Mutation_p.G1093V NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN retinoblastoma-binding protein 6 isoform 1 1260 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|pancreas(1) 4 GBM - Glioblastoma multiforme(48;0.0518) GGAACTGAAGGATCCAGCTCA 0.423 NA 24 39 6.32553e-13 7.6057e-13 0.004656 1 0 NLRC5 84166 broad.mit.edu 37 16 57085490 57085490 + Silent SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr16:57085490C>T uc002ekk.1 + 24 3688 c.3463C>T c.(3463-3465)CTA>TTA p.L1155L NLRC5_uc002ekn.2_Silent_p.L874L|NLRC5_uc002ekl.2_Silent_p.L960L|NLRC5_uc002ekm.2_Silent_p.L930L|NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_RNA|NLRC5_uc002ekp.1_Silent_p.L71L|NLRC5_uc002ekq.1_5'UTR|NLRC5_uc002ekr.1_Silent_p.L71L NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN nucleotide-binding oligomerization domains 27 1155 LRR 11. defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding ovary(4)|skin(2)|breast(1) 7 all_neural(199;0.225) CCTGGAGACTCTACTGGACTG 0.532 NA 14 711 0 0 0.007413 0 0 CNOT1 23019 broad.mit.edu 37 16 58619324 58619324 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr16:58619324C>G uc002env.2 - 8 1017 c.724G>C c.(724-726)GAT>CAT p.D242H CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.D242H|CNOT1_uc002enx.2_Missense_Mutation_p.D242H|CNOT1_uc002enz.1_Intron NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 242 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) CCTCCGGAATCAGGCAGGATC 0.468 NA 4 183 0 0 0.009096 0 0 CDH11 1009 broad.mit.edu 37 16 65038648 65038649 + Missense_Mutation DNP CC CC AA TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr16:65038648_65038649CC>AA uc002eoi.2 - 3 558_559 c.124_125GG>TT c.(124-126)GGC>TTC p.G42F CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Missense_Mutation_p.G42F|CDH11_uc010vin.1_Intron|CDH11_uc010vio.1_Missense_Mutation_p.G42F NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 42 adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) CCCCTCCTTGCCCTTCTCATGG 0.663 NA T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 8 18 0 0 0.004672 0 0 IRF8 3394 broad.mit.edu 37 16 85942710 85942710 + Missense_Mutation SNP G G A rs34712374 TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr16:85942710G>A uc002fjh.2 + 3 346 c.289G>A c.(289-291)GAC>AAC p.D97N IRF8_uc002fji.2_Missense_Mutation_p.D97N|IRF8_uc010chp.2_RNA NM_002163 NP_002154 Q02556 IRF8_HUMAN interferon regulatory factor 8 97 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) GGAAGTGACGGACCGGTCCCA 0.453 NA 25 44 0 0 0.004656 0 0 FANCA 2175 broad.mit.edu 37 16 89862360 89862360 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr16:89862360G>C uc002fou.1 - 11 1002 c.960C>G c.(958-960)TTC>TTG p.F320L FANCA_uc010vpn.1_Missense_Mutation_p.F320L NM_000135 NP_000126 O15360 FANCA_HUMAN Fanconi anemia, complementation group A isoform 320 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) GGGTATGACTGAAGAACCTCT 0.522 NA D|Mis|N|F|S AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks FanconAnemia 3 91 0 0 0.004672 0 0 CENPBD1 92806 broad.mit.edu 37 16 90038109 90038109 + Silent SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr16:90038109C>G uc002fpr.2 - 1 834 c.222G>C c.(220-222)CTG>CTC p.L74L AFG3L1_uc002fps.1_5'Flank|AFG3L1_uc002fpt.1_5'Flank|AFG3L1_uc002fpu.1_5'Flank|AFG3L1_uc002fpv.1_5'Flank|AFG3L1_uc002fpw.1_5'Flank|AFG3L1_uc002fpx.1_5'Flank NM_145039 NP_659476 B2RD01 CENP1_HUMAN CENPB DNA-binding domains containing 1 74 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 GAGAGGCTCTCAGAGGAGTAG 0.502 NA 4 19 0 0 0.009096 0 0 CAMTA2 23125 broad.mit.edu 37 17 4883116 4883116 + Missense_Mutation SNP A A G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr17:4883116A>G uc002gah.1 - 9 1609 c.1501T>C c.(1501-1503)TTC>CTC p.F501L CAMTA2_uc010cku.1_Missense_Mutation_p.F524L|CAMTA2_uc002gag.1_Missense_Mutation_p.F500L|CAMTA2_uc002gai.1_Missense_Mutation_p.F503L|CAMTA2_uc010ckv.1_Missense_Mutation_p.F148L|CAMTA2_uc010vsu.1_Missense_Mutation_p.F314L NM_015099 NP_055914 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 501 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding ovary(1) 1 GAAAGACTGAAGGGCTCCAGT 0.522 NA 5 251 0 0 0.000602 0 0 KIAA0753 9851 broad.mit.edu 37 17 6493842 6493842 + Missense_Mutation SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr17:6493842G>A uc002gde.3 - 17 2908 c.2549C>T c.(2548-2550)CCC>CTC p.P850L KIAA0753_uc010vtd.1_Missense_Mutation_p.P306L|KIAA0753_uc010clo.2_Missense_Mutation_p.P551L|KIAA0753_uc010vte.1_Missense_Mutation_p.P551L NM_014804 NP_055619 Q2KHM9 K0753_HUMAN hypothetical protein LOC9851 850 centrosome 0 COAD - Colon adenocarcinoma(228;0.157) GCCATTACAGGGCCTTTCTAA 0.403 NA 25 74 0 0 0.008361 0 0 MYH1 4619 broad.mit.edu 37 17 10399410 10399410 + Missense_Mutation SNP C C A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr17:10399410C>A uc002gmo.2 - 35 5120 c.5026G>T c.(5026-5028)GCT>TCT p.A1676S uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1676 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 TCCACCATAGCCAGCTGTTCC 0.572 NA 28 67 1.17739e-12 1.41147e-12 0.005443 1 0 MYOCD 93649 broad.mit.edu 37 17 12655756 12655756 + Missense_Mutation SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr17:12655756G>A uc002gnn.2 + 10 1450 c.1151G>A c.(1150-1152)CGA>CAA p.R384Q MYOCD_uc002gno.2_Missense_Mutation_p.R384Q|MYOCD_uc002gnp.1_Missense_Mutation_p.R288Q|MYOCD_uc002gnq.2_Missense_Mutation_p.R103Q NM_153604 NP_705832 Q8IZQ8 MYCD_HUMAN myocardin isoform 2 384 SAP. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding central_nervous_system(2)|skin(2)|ovary(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CAACAGCTTCGAATTCGGGGC 0.453 NA 12 64 0 0 0.00245 0 0 VTN 7448 broad.mit.edu 37 17 26696372 26696372 + Missense_Mutation SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr17:26696372C>T uc002hbc.2 - 4 756 c.607G>A c.(607-609)GAG>AAG p.E203K SARM1_uc010wah.1_Intron|SEBOX_uc010crk.1_5'Flank|SARM1_uc010waj.1_Intron|SARM1_uc010crl.1_5'Flank NM_000638 NP_000629 P04004 VTNC_HUMAN vitronectin precursor 203 Hemopexin-like 1. cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion alphav-beta3 integrin-vitronectin complex|extracellular space heparin binding|integrin binding|scavenger receptor activity ovary(1)|kidney(1) 2 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) Urokinase(DB00013) ATGGGGCCCTCGATGCCCCAG 0.587 NA 8 119 0 0 0.004482 0 0 FOXN1 8456 broad.mit.edu 37 17 26851622 26851622 + Silent SNP C C G rs138510671 TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr17:26851622C>G uc010crm.2 + 3 423 c.225C>G c.(223-225)CCC>CCG p.P75P FOXN1_uc002hbj.2_Silent_p.P75P NM_003593 NP_003584 O15353 FOXN1_HUMAN forkhead box N1 75 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding skin(1) 1 Lung NSC(42;0.00431) CACCAGGGCCCGAGCAAGTCC 0.667 NA 10 62 0 0 0.010729 0 0 RAB11FIP4 84440 broad.mit.edu 37 17 29758831 29758831 + Missense_Mutation SNP G G T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr17:29758831G>T uc002hgn.1 + 2 389 c.160G>T c.(160-162)GTG>TTG p.V54L NM_032932 NP_116321 Q86YS3 RFIP4_HUMAN RAB11 family interacting protein 4 (class II) 54 EF-hand. cytokinesis|interspecies interaction between organisms|protein transport cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding skin(1) 1 all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066) ATTCCCACAGGTGGAAAAACT 0.562 NA 21 51 3.83957e-06 4.43196e-06 0.00278 1 0 C17orf53 78995 broad.mit.edu 37 17 42225308 42225308 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr17:42225308C>G uc002ifi.1 + 3 322 c.137C>G c.(136-138)TCT>TGT p.S46C C17orf53_uc010czq.1_Missense_Mutation_p.S46C|C17orf53_uc002ifj.1_Missense_Mutation_p.S46C|C17orf53_uc002ifk.1_RNA NM_024032 NP_076937 Q8N3J3 CQ053_HUMAN hypothetical protein LOC78995 46 0 Breast(137;0.0364)|Prostate(33;0.0376) BRCA - Breast invasive adenocarcinoma(366;0.114) AGACCTGTCTCTTCTAGGCCA 0.572 NA 4 106 0 0 0.000602 0 0 ANKFN1 162282 broad.mit.edu 37 17 54450167 54450167 + Silent SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr17:54450167C>T uc002iun.1 + 6 806 c.771C>T c.(769-771)CTC>CTT p.L257L NM_153228 NP_694960 Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain 257 large_intestine(1)|ovary(1) 2 GGTATCGGCTCTACAGACGCA 0.483 NA 19 124 0 0 0.00278 0 0 APPBP2 10513 broad.mit.edu 37 17 58571968 58571968 + Missense_Mutation SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr17:58571968G>A uc002iys.1 - 3 526 c.238C>T c.(238-240)CAT>TAT p.H80Y APPBP2_uc010ddl.1_Missense_Mutation_p.H9Y NM_006380 NP_006371 Q92624 APBP2_HUMAN amyloid beta precursor protein-binding protein 80 TPR 1. intracellular protein transport cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus microtubule motor activity|protein binding 0 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01) AAACAATGATGAAGCAAATGT 0.338 NA 4 111 0 0 0.009096 0 0 ACE 1636 broad.mit.edu 37 17 61574336 61574336 + Silent SNP G G T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr17:61574336G>T uc002jau.1 + 24 3703 c.3681G>T c.(3679-3681)ACG>ACT p.T1227T ACE_uc002jav.1_Silent_p.T653T|ACE_uc010ddv.1_Silent_p.T454T|ACE_uc010wpj.1_Silent_p.T612T|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Silent_p.T432T NM_000789 NP_000780 P12821 ACE_HUMAN angiotensin I converting enzyme 1 isoform 1 1227 Extracellular (Potential).|Peptidase M2 2. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) ACAACTGGACGCCGAACTCCG 0.642 NA 5 6 7.48243e-07 8.73671e-07 0.006214 1 0 SMURF2 64750 broad.mit.edu 37 17 62568061 62568061 + Missense_Mutation SNP T T C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr17:62568061T>C uc002jep.1 - 10 1259 c.871A>G c.(871-873)ATC>GTC p.I291V SMURF2_uc002jeq.1_Missense_Mutation_p.I50V|SMURF2_uc002jer.1_Missense_Mutation_p.I50V NM_022739 NP_073576 Q9HAU4 SMUF2_HUMAN SMAD specific E3 ubiquitin protein ligase 2 291 BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex identical protein binding|SMAD binding|ubiquitin-protein ligase activity skin(3)|lung(1) 4 Breast(5;1.32e-14) BRCA - Breast invasive adenocarcinoma(8;9.88e-12) TCACAATTGATGTTGCTAAGA 0.408 NA 20 52 0 0 0.012319 0 0 HELZ 9931 broad.mit.edu 37 17 65083055 65083055 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr17:65083055G>C uc010wqk.1 - 32 5574 c.5387C>G c.(5386-5388)TCT>TGT p.S1796C HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.S1795C NM_014877 NP_055692 helicase with zinc finger domain ovary(1)|pancreas(1) 2 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) AAAGTTGAAAGAAGATTGGTT 0.473 NA 10 156 0 0 0.006214 0 0 ARSG 22901 broad.mit.edu 37 17 66364735 66364735 + Missense_Mutation SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr17:66364735C>T uc002jhc.2 + 7 1547 c.751C>T c.(751-753)CAC>TAC p.H251Y ARSG_uc002jhb.1_Missense_Mutation_p.H87Y NM_014960 NP_055775 Q96EG1 ARSG_HUMAN Arylsulfatase G precursor 251 Substrate (By similarity). sulfur compound metabolic process endoplasmic reticulum|extracellular space|lysosome arylsulfatase activity|metal ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) GGCCCACATGCACGTGCCCTT 0.602 NA 6 143 0 0 0.00308 0 0 UBE2O 63893 broad.mit.edu 37 17 74392500 74392500 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr17:74392500G>C uc002jrm.3 - 14 2583 c.2518C>G c.(2518-2520)CCG>GCG p.P840A UBE2O_uc002jrn.3_Missense_Mutation_p.P840A|UBE2O_uc002jrl.3_Missense_Mutation_p.P444A NM_022066 NP_071349 Q9C0C9 UBE2O_HUMAN ubiquitin-conjugating enzyme E2O 840 Potential. ATP binding|ubiquitin-protein ligase activity breast(2)|skin(2)|lung(1) 5 TCCACAGTCGGAGAGGTGGGC 0.547 NA 4 178 0 0 0.001168 0 0 PCYT2 5833 broad.mit.edu 37 17 79867409 79867409 + Silent SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr17:79867409G>A uc002kcf.1 - 2 222 c.159C>T c.(157-159)ATC>ATT p.I53I PCYT2_uc010wva.1_Silent_p.I21I|PCYT2_uc010wvb.1_Silent_p.I21I|PCYT2_uc002kce.1_5'UTR|PCYT2_uc002kcg.1_Silent_p.I64I|PCYT2_uc002kch.1_Silent_p.I53I|PCYT2_uc002kci.1_5'UTR|PCYT2_uc010dii.1_Silent_p.I53I|PCYT2_uc010wvc.1_5'UTR NM_002861 NP_002852 Q99447 PCY2_HUMAN phosphate cytidylyltransferase 2, ethanolamine 53 Catalytic 1 (Potential). phospholipid biosynthetic process ethanolamine-phosphate cytidylyltransferase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) GCACGCCTACGATGAGGTAGT 0.632 NA 5 134 0 0 0.001984 0 0 GPS1 2873 broad.mit.edu 37 17 80014187 80014187 + Missense_Mutation SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr17:80014187G>A uc002kdl.1 + 9 1012 c.967G>A c.(967-969)GAG>AAG p.E323K GPS1_uc002kdk.1_Missense_Mutation_p.E359K|GPS1_uc010dij.1_Missense_Mutation_p.E358K|GPS1_uc002kdm.1_Missense_Mutation_p.E303K|GPS1_uc002kdn.1_Missense_Mutation_p.E319K|GPS1_uc002kdo.1_Missense_Mutation_p.E322K|GPS1_uc010wvh.1_Missense_Mutation_p.E315K NM_004127 NP_004118 Q13098 CSN1_HUMAN G protein pathway suppressor 1 isoform 2 323 cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade cytoplasm|signalosome GTPase inhibitor activity|protein binding central_nervous_system(1) 1 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) CTTGGAGCTGGAGCCACAGGT 0.582 NA 35 189 0 0 0.013114 0 0 FOXK2 3607 broad.mit.edu 37 17 80542037 80542037 + Missense_Mutation SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr17:80542037G>A uc002kfn.2 + 6 1423 c.1252G>A c.(1252-1254)GAA>AAA p.E418K FOXK2_uc002kfm.1_Missense_Mutation_p.E418K|FOXK2_uc010diu.2_Intron NM_004514 NP_004505 Q01167 FOXK2_HUMAN forkhead box K2 418 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 Breast(20;0.00106)|all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415) TGTCATCCAGGAAGCCCGGTT 0.682 NA 3 22 0 0 0.004672 0 0 DLGAP1 9229 broad.mit.edu 37 18 3729134 3729134 + Splice_Site SNP C C A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr18:3729134C>A uc002kmf.2 - 4 1658 c.1591_splice c.e4+1 p.V531_splice DLGAP1_uc010wyz.1_Splice_Site_p.V531_splice|DLGAP1_uc002kme.1_Splice_Site_p.V229_splice|DLGAP1_uc010dkn.2_Splice_Site_p.G229_splice|DLGAP1_uc010wyw.1_Splice_Site_p.V237_splice|DLGAP1_uc010wyx.1_Splice_Site_p.G243_splice|DLGAP1_uc010wyy.1_Splice_Site_p.A243_splice|DLGAP1_uc002kmg.2_Splice_Site_p.V229_splice|DLGAP1_uc002kmk.2_Splice_Site_p.G531_splice NM_004746 NP_004737 O14490 DLGP1_HUMAN discs large homolog-associated protein 1 isoform synaptic transmission cell junction|postsynaptic density|postsynaptic membrane ovary(2)|pancreas(1)|skin(1) 4 Colorectal(8;0.0257) CGCGCACTCACCCGTGCTGCT 0.637 NA 17 15 3.41278e-10 4.0433e-10 0.00499 1 0 ARHGAP28 79822 broad.mit.edu 37 18 6889985 6889985 + Silent SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr18:6889985C>T uc010wzi.1 + 12 1342 c.1104C>T c.(1102-1104)TTC>TTT p.F368F ARHGAP28_uc002knc.2_Silent_p.F493F|ARHGAP28_uc002knd.2_Silent_p.F386F|ARHGAP28_uc002kne.2_Silent_p.F386F|ARHGAP28_uc002knf.2_Silent_p.F377F B4DXL2 B4DXL2_HUMAN SubName: Full=Putative uncharacterized protein ARHGAP28; 368 signal transduction intracellular pancreas(1) 1 Colorectal(10;0.168) ACCTTTTCTTCAGTAGAAGCA 0.408 NA 7 157 0 0 0.00308 0 0 ARHGAP28 79822 broad.mit.edu 37 18 6890048 6890048 + Silent SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr18:6890048C>T uc010wzi.1 + 12 1405 c.1167C>T c.(1165-1167)ATC>ATT p.I389I ARHGAP28_uc002knc.2_Silent_p.I514I|ARHGAP28_uc002knd.2_Silent_p.I407I|ARHGAP28_uc002kne.2_Silent_p.I407I|ARHGAP28_uc002knf.2_Silent_p.I398I B4DXL2 B4DXL2_HUMAN SubName: Full=Putative uncharacterized protein ARHGAP28; 389 signal transduction intracellular pancreas(1) 1 Colorectal(10;0.168) CCCACATCATCCGCCTAATGC 0.448 NA 6 152 0 0 0.001984 0 0 ZNF271 10778 broad.mit.edu 37 18 32887308 32887308 + Silent SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr18:32887308C>T uc002kyq.3 + 3 1712 c.720C>T c.(718-720)ATC>ATT p.I240I ZNF271_uc002kyp.3_Silent_p.I240I|ZNF271_uc002kyr.3_Silent_p.I240I NR_024565 SubName: Full=cDNA FLJ13394 fis, clone PLACE1001304, highly similar to Homo sapiens zinc finger protein 271 (ZNF271), mRNA; 0 TATTCTTCATCAGAGAATTCA 0.408 NA 6 109 0 0 0.001984 0 0 SERPINB4 6318 broad.mit.edu 37 18 61328318 61328318 + Missense_Mutation SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr18:61328318C>T uc002ljg.2 - 1 159 c.133G>A c.(133-135)GCC>ACC p.A45T SERPINB3_uc002lji.2_Missense_Mutation_p.A45T|SERPINB3_uc010dqa.2_Missense_Mutation_p.A45T|SERPINB3_uc010dqb.2_Missense_Mutation_p.A45T|SERPINB3_uc010dqc.2_Missense_Mutation_p.A45T P48594 SPB4_HUMAN SubName: Full=Squamous cell carcinoma antigen 2; 45 immune response|regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity ovary(2)|lung(1) 3 TTGTCTTTGGCTCCTAAGAGG 0.438 NA 5 166 0 0 0.000602 0 0 SERPINB10 5273 broad.mit.edu 37 18 61602377 61602378 + Missense_Mutation DNP CC CC TT TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr18:61602377_61602378CC>TT uc010xev.1 + 8 1185_1186 c.1095_1096CC>TT c.(1093-1098)GTCCCA>GTTTCA p.P366S SERPINB10_uc010xew.1_Missense_Mutation_p.P366S NM_005024 NP_005015 P48595 SPB10_HUMAN serine (or cysteine) proteinase inhibitor, clade 366 cytoplasm|nucleus serine-type endopeptidase inhibitor activity lung(1)|kidney(1)|skin(1) 3 Esophageal squamous(42;0.131) GAATTAGAGTCCCATCCATTGA 0.386 NA 5 181 0 0 0.004672 0 0 MIER2 54531 broad.mit.edu 37 19 326574 326574 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr19:326574C>G uc002lok.1 - 6 527 c.518G>C c.(517-519)AGA>ACA p.R173T NM_017550 NP_060020 Q8N344 MIER2_HUMAN mesoderm induction early response 1, family 173 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304) 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) GCCAGGCTCTCTGTCTTCATC 0.562 NA 6 95 0 0 0.001168 0 0 STK11 6794 broad.mit.edu 37 19 1220449 1220449 + Missense_Mutation SNP A A T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr19:1220449A>T uc002lrl.1 + 4 1657 c.542A>T c.(541-543)AAC>ATC p.N181I NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 181 Protein kinase. N -> E (in sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39; requires 2 nucleotide substitutions). anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(19)|p.Y156fs*87(4)|p.?(4) lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1) 266 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) AAGCCGGGGAACCTGCTGCTC 0.662 14 D|Mis|N|F|S NSCLC|pancreatic jejunal harmartoma|ovarian|testicular|pancreatic Peutz-Jeghers_syndrome TSP Lung(3;<1E-08) 3 4 0 0 0.004672 0 0 TCF3 6929 broad.mit.edu 37 19 1619133 1619133 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr19:1619133G>C uc002ltr.2 - 16 1494 c.1427C>G c.(1426-1428)TCT>TGT p.S476C TCF3_uc002lto.2_Missense_Mutation_p.S237C|TCF3_uc002ltt.3_Missense_Mutation_p.S476C|TCF3_uc002ltq.2_Missense_Mutation_p.S425C|TCF3_uc002lts.1_Missense_Mutation_p.S392C|TCF3_uc010dso.1_RNA NM_003200 NP_003191 P15923 TFE2_HUMAN transcription factor 3 isoform E12 476 B cell lineage commitment|B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus|protein complex|transcription factor complex bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding lung(2)|breast(2)|ovary(1)|large_intestine(1)|skin(1) 7 Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07) 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) GGGAGGCCGAGACAGGTCAGG 0.657 NA T PBX1|HLF|TFPT pre B-ALL 6 64 0 0 0.001984 0 0 DOT1L 84444 broad.mit.edu 37 19 2222272 2222272 + Nonsense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr19:2222272C>G uc002lvb.3 + 24 3140 c.3104C>G c.(3103-3105)TCA>TGA p.S1035* DOT1L_uc002lvc.1_Nonsense_Mutation_p.S329*|DOT1L_uc002lve.1_3'UTR NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN DOT1-like, histone H3 methyltransferase 1035 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 4 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) TCCGGCTTCTCAGATCCTGAG 0.667 NA 3 45 0 0 0.009096 0 0 CREB3L3 84699 broad.mit.edu 37 19 4171672 4171672 + Silent SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr19:4171672C>T uc002lzl.2 + 10 1208 c.1092C>T c.(1090-1092)CAC>CAT p.H364H CREB3L3_uc002lzm.2_Silent_p.H354H|CREB3L3_uc010xib.1_Silent_p.H353H|CREB3L3_uc010xic.1_Nonsense_Mutation_p.Q320* NM_032607 NP_115996 Q68CJ9 CR3L3_HUMAN cAMP responsive element binding protein 3-like 364 Lumenal (Potential). Cleavage; by PS1 (By similarity). response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) GAACTTTGCACAACGATGCTG 0.642 NA 24 158 0 0 0.008361 0 0 INSR 3643 broad.mit.edu 37 19 7125477 7125477 + Silent SNP G G T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr19:7125477G>T uc002mgd.1 - 17 3184 c.3075C>A c.(3073-3075)CTC>CTA p.L1025L INSR_uc002mge.1_Silent_p.L1013L NM_000208 NP_000199 P06213 INSR_HUMAN insulin receptor isoform Long precursor 1025 Protein kinase.|Cytoplasmic (Potential). activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1) 12 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GCTCTCGAAGGAGGGTGATCT 0.572 NA 8 69 7.48243e-07 8.73671e-07 0.006214 1 0 RDH8 50700 broad.mit.edu 37 19 10132255 10132255 + Nonsense_Mutation SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr19:10132255C>T uc002mmr.2 + 6 1015 c.766C>T c.(766-768)CAG>TAG p.Q256* NM_015725 NP_056540 Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 256 estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity ovary(3)|pancreas(1) 4 Epithelial(33;4.24e-05) Vitamin A(DB00162) CCTGCGCCGACAGACCAACAT 0.637 NA 12 14 0 0 0.004007 0 0 KEAP1 9817 broad.mit.edu 37 19 10602581 10602581 + Missense_Mutation SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr19:10602581C>T uc002moq.1 - 3 1153 c.997G>A c.(997-999)GGC>AGC p.G333S KEAP1_uc002mop.1_Missense_Mutation_p.G51S|KEAP1_uc002mor.1_Missense_Mutation_p.G333S NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 333 Kelch 1. G -> C (in a NSCLC cell line; strongly reduces interaction with NFE2L2 and reduces repression of NFE2L2-dependent gene expression). regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) CGGAAGTAGCCGCCCGCGGTG 0.677 NA 15 11 0 0 0.006122 0 0 PRKCSH 5589 broad.mit.edu 37 19 11560101 11560101 + Silent SNP A A G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr19:11560101A>G uc002mrt.2 + 17 1797 c.1461A>G c.(1459-1461)AAA>AAG p.K487K PRKCSH_uc002mru.2_Silent_p.K484K|PRKCSH_uc010xlz.1_Silent_p.K494K|PRKCSH_uc010dya.2_Silent_p.K269K|PRKCSH_uc010dyb.2_Silent_p.K484K NM_002743 NP_002734 P14314 GLU2B_HUMAN protein kinase C substrate 80K-H isoform 1 487 innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen calcium ion binding|protein kinase C binding 0 TGTGCGGGAAAGAGACCATGG 0.692 NA 18 85 0 0 0.008871 0 0 ZNF878 729747 broad.mit.edu 37 19 12157506 12157506 + Nonsense_Mutation SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr19:12157506G>A uc002mta.1 - 3 214 c.214C>T c.(214-216)CAG>TAG p.Q72* NM_001080404 NP_001073873 C9JN71 ZN878_HUMAN zinc finger protein 878 25 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 AGATTTTTCTGGGAAGGATCC 0.478 NA 27 145 0 0 0.003954 0 0 LOC284441 284441 broad.mit.edu 37 19 20369582 20369582 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr19:20369582G>C uc002nov.2 + 1 1126 c.375G>C c.(373-375)AGG>AGC p.R125S NR_003128 SubName: Full=cDNA FLJ51655, highly similar to Actin-like protein 2; 0 ATCTTACCAGGAGACTGGATA 0.443 NA 3 147 0 0 0.004672 0 0 ZNF91 7644 broad.mit.edu 37 19 23542873 23542873 + Missense_Mutation SNP C C G rs1816638 TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr19:23542873C>G uc002nre.2 - 4 3021 c.2908G>C c.(2908-2910)GAA>CAA p.E970Q ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.E938Q NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 970 C2H2-type 30. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) TTGCCACATTCTTCACATTTG 0.368 NA 5 138 0 0 0.001168 0 0 ZNF781 163115 broad.mit.edu 37 19 38160502 38160502 + Missense_Mutation SNP A A C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr19:38160502A>C uc002ogy.2 - 4 1290 c.548T>G c.(547-549)ATA>AGA p.I183R ZNF781_uc002ogz.2_Missense_Mutation_p.I178R NM_152605 NP_689818 Q8N8C0 ZN781_HUMAN zinc finger protein 781 183 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTGAGCAATTATTGAATGCTT 0.378 NA 22 103 0 0 0.00278 0 0 PSG5 5673 broad.mit.edu 37 19 43680050 43680050 + Silent SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr19:43680050G>C uc002ovu.2 - 3 812 c.681C>G c.(679-681)CGC>CGG p.R227R PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Intron|PSG5_uc002ovx.2_Silent_p.R227R|PSG5_uc002ovv.2_Silent_p.R320R|PSG5_uc002ovw.2_Intron NM_002781 NP_002772 Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 227 Ig-like C2-type 1. female pregnancy extracellular region skin(3) 3 Prostate(69;0.00899) CTGGGTCACTGCGCATGCCAC 0.493 NA 79 148 0 0 0.01441 0 0 EML2 24139 broad.mit.edu 37 19 46124837 46124837 + Silent SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr19:46124837G>A uc002pcn.2 - 10 935 c.900C>T c.(898-900)CTC>CTT p.L300L EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Silent_p.L184L|EML2_uc010xxl.1_Silent_p.L447L|EML2_uc010xxm.1_Silent_p.L501L|EML2_uc010xxn.1_RNA|EML2_uc010xxo.1_Silent_p.L300L|EML2_uc010ekj.2_Missense_Mutation_p.S267F NM_012155 NP_036287 O95834 EMAL2_HUMAN echinoderm microtubule associated protein like 300 WD 5. 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) GCAGGGCGCAGAGCCCAAACA 0.682 NA 22 27 0 0 0.003954 0 0 GRLF1 2909 broad.mit.edu 37 19 47422425 47422425 + Missense_Mutation SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr19:47422425G>A uc010ekv.2 + 1 493 c.493G>A c.(493-495)GAT>AAT p.D165N NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 165 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) TCTTGGTATTGATGTTAGCAG 0.453 NA 4 54 0 0 0.009096 0 0 GRIN2D 2906 broad.mit.edu 37 19 48908350 48908350 + Silent SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr19:48908350G>A uc002pjc.3 + 3 913 c.825G>A c.(823-825)GTG>GTA p.V275V NM_000836 NP_000827 O15399 NMDE4_HUMAN N-methyl-D-aspartate receptor subunit 2D 275 Extracellular (Potential). cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding ovary(3)|breast(3) 6 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) GGTTCATGGTGGGGCCCCAGC 0.706 NA 4 15 0 0 0.009096 0 0 SIGLEC9 27180 broad.mit.edu 37 19 51629008 51629008 + Silent SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr19:51629008C>T uc002pvu.2 + 2 643 c.576C>T c.(574-576)ACC>ACT p.T192T SIGLEC9_uc010yct.1_Silent_p.T192T NM_014441 NP_055256 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 precursor 192 Extracellular (Potential).|Ig-like C2-type 1. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding skin(1) 1 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) ACCCCTCCACCACCCGCTCCT 0.657 NA 47 55 0 0 0.01441 0 0 BIRC8 112401 broad.mit.edu 37 19 53793072 53793072 + Missense_Mutation SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr19:53793072C>T uc002qbk.2 - 1 1804 c.556G>A c.(556-558)GAG>AAG p.E186K NM_033341 NP_203127 Q96P09 BIRC8_HUMAN baculoviral IAP repeat-containing 8 186 apoptosis zinc ion binding lung(1) 1 GBM - Glioblastoma multiforme(134;0.00304) CAAAGCTTCTCCTCTTGCAGA 0.433 NA 10 111 0 0 0.006214 0 0 ZNF256 10172 broad.mit.edu 37 19 58455413 58455413 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr19:58455413C>G uc002qqu.2 - 2 284 c.49G>C c.(49-51)GAG>CAG p.E17Q ZNF256_uc010euj.2_Intron NM_005773 NP_005764 Q9Y2P7 ZN256_HUMAN zinc finger protein 256 17 KRAB. multicellular organismal development|negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding upper_aerodigestive_tract(1)|skin(1) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155) GCCACGTCCTCAAAGGTCACA 0.507 NSCLC(55;1313 1552 8040 11996) NA 4 59 0 0 0.009096 0 0 CYP1B1 1545 broad.mit.edu 37 2 38301556 38301556 + Missense_Mutation SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr2:38301556C>T uc002rqo.2 - 3 1379 c.976G>A c.(976-978)GAC>AAC p.D326N NM_000104 NP_000095 Q16678 CP1B1_HUMAN cytochrome P450, family 1, subfamily B, 326 visual perception|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding ovary(1)|central_nervous_system(1) 2 all_hematologic(82;0.21) Estrone(DB00655) CCGAAGATGTCAGTGATAGTG 0.632 NA 5 12 0 0 0.00308 0 0 SLC8A1 6546 broad.mit.edu 37 2 40656137 40656137 + Silent SNP G G T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr2:40656137G>T uc002rrx.2 - 1 1308 c.1284C>A c.(1282-1284)ACC>ACA p.T428T SLC8A1_uc002rry.2_Silent_p.T428T|SLC8A1_uc002rrz.2_Silent_p.T428T|SLC8A1_uc002rsa.2_Silent_p.T428T|SLC8A1_uc002rsd.3_Silent_p.T428T|SLC8A1_uc002rsb.1_Silent_p.T428T|SLC8A1_uc010fan.1_Silent_p.T428T|SLC8A1_uc002rsc.1_Silent_p.T428T NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 428 Calx-beta 1.|Cytoplasmic (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TGCGGATAATGGTAAGGGCCA 0.433 NA 5 91 3.59834e-05 4.14167e-05 0.001168 1 0 PAPOLG 64895 broad.mit.edu 37 2 61009128 61009128 + Missense_Mutation SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr2:61009128G>A uc002sai.2 + 11 1246 c.1015G>A c.(1015-1017)GAA>AAA p.E339K PAPOLG_uc002saj.2_Missense_Mutation_p.E28K|PAPOLG_uc002sak.2_5'UTR|PAPOLG_uc010fch.2_Missense_Mutation_p.E28K NM_022894 NP_075045 Q9BWT3 PAPOG_HUMAN poly(A) polymerase gamma 339 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding ovary(1)|central_nervous_system(1) 2 all_hematologic(2;0.0797) LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768) AATGGTAGAAGAATTTAAACA 0.403 GBM(183;1497 2932 21839 46797) NA 4 133 0 0 0.009096 0 0 KIAA1841 84542 broad.mit.edu 37 2 61298824 61298824 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr2:61298824G>C uc002saw.3 + 4 537 c.234G>C c.(232-234)GAG>GAC p.E78D KIAA1841_uc002sax.3_5'UTR|KIAA1841_uc002say.2_Missense_Mutation_p.E78D|KIAA1841_uc002sav.3_Missense_Mutation_p.E78D NM_001129993 NP_001123465 Q6NSI8 K1841_HUMAN KIAA1841 protein isoform a 78 0 Epithelial(17;0.193) CTGCTGGAGAGAGTCCTGTTG 0.393 NA 3 129 0 0 0.009096 0 0 EXOC6B 23233 broad.mit.edu 37 2 72945355 72945355 + Silent SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr2:72945355C>T uc010fep.2 - 6 684 c.546G>A c.(544-546)GTG>GTA p.V182V EXOC6B_uc002sij.2_Silent_p.V182V NM_015189 NP_056004 Q9Y2D4 EXC6B_HUMAN SEC15-like 2 182 protein transport|vesicle docking involved in exocytosis exocyst central_nervous_system(2) 2 TGTCCACCATCACCTTGCAGA 0.423 NA 19 106 0 0 0.008871 0 0 ZNF514 84874 broad.mit.edu 37 2 95815686 95815686 + Missense_Mutation SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr2:95815686C>T uc002sue.1 - 5 918 c.544G>A c.(544-546)GAT>AAT p.D182N ZNF514_uc002sud.1_Missense_Mutation_p.D255N NM_032788 NP_116177 Q96K75 ZN514_HUMAN zinc finger protein 514 182 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AATTCTGTATCACATTTATAA 0.393 NA 32 258 0 0 0.012213 0 0 KIAA1310 55683 broad.mit.edu 37 2 97275266 97275266 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr2:97275266C>G uc002swn.3 - 12 1499 c.1353G>C c.(1351-1353)TTG>TTC p.L451F KIAA1310_uc002swh.3_Missense_Mutation_p.L339F|KIAA1310_uc002swi.3_Missense_Mutation_p.L352F|KIAA1310_uc002swj.3_RNA|KIAA1310_uc002swk.3_Missense_Mutation_p.L364F|KIAA1310_uc010fhz.2_Missense_Mutation_p.L245F|KIAA1310_uc002swl.3_Missense_Mutation_p.L352F|KIAA1310_uc002swm.3_RNA|KIAA1310_uc010yur.1_Missense_Mutation_p.L245F|KIAA1310_uc002swp.1_Missense_Mutation_p.L352F|KIAA1310_uc002swq.1_Missense_Mutation_p.L223F|KIAA1310_uc010fhy.1_Missense_Mutation_p.L352F NM_001115016 NP_001108488 Q9P2N6 K1310_HUMAN hypothetical protein LOC55683 isoform a 451 0 TGCTCTGAGTCAACCCTTCTG 0.383 NA 5 435 0 0 0.001984 0 0 EIF5B 9669 broad.mit.edu 37 2 99978250 99978250 + Missense_Mutation SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr2:99978250G>A uc002tab.2 + 4 1070 c.886G>A c.(886-888)GAA>AAA p.E296K NM_015904 NP_056988 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 296 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity ovary(2)|pancreas(1) 3 TCCTGCCTCTGAAGAGAAAGC 0.368 Colon(162;2388 2567 2705 3444) NA 6 131 0 0 0.001984 0 0 EIF5B 9669 broad.mit.edu 37 2 99980189 99980189 + Missense_Mutation SNP A A C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr2:99980189A>C uc002tab.2 + 5 1185 c.1001A>C c.(1000-1002)AAA>ACA p.K334T NM_015904 NP_056988 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 334 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity ovary(2)|pancreas(1) 3 gagaagaaaaaaggaCCTAGC 0.259 Colon(162;2388 2567 2705 3444) NA 24 29 0 0 0.003954 0 0 EIF5B 9669 broad.mit.edu 37 2 99998629 99998629 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr2:99998629G>C uc002tab.2 + 13 2253 c.2069G>C c.(2068-2070)AGA>ACA p.R690T NM_015904 NP_056988 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 690 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity ovary(2)|pancreas(1) 3 TAGTTTGATAGAGAGAATGTA 0.353 Colon(162;2388 2567 2705 3444) NA 5 60 0 0 0.001984 0 0 TBC1D8 11138 broad.mit.edu 37 2 101646204 101646205 + Missense_Mutation DNP GA GA AG TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 GA GA - - GA GA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr2:101646204_101646205GA>AG uc010fiv.2 - 12 2056_2057 c.1925_1926TC>CT c.(1924-1926)CTC>CCT p.L642P TBC1D8_uc002tau.3_Missense_Mutation_p.L399P NM_001102426 NP_001095896 O95759 TBCD8_HUMAN TBC1 domain family, member 8 642 Rab-GAP TBC. blood circulation|positive regulation of cell proliferation intracellular|membrane calcium ion binding|Rab GTPase activator activity ovary(3) 3 GACCCTTGATGAGCTCCTCGAA 0.554 NA 24 63 0 0 0.004672 0 0 RGPD4 285190 broad.mit.edu 37 2 108488039 108488039 + Silent SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr2:108488039G>A uc010ywk.1 + 20 3661 c.3579G>A c.(3577-3579)CAG>CAA p.Q1193Q RGPD4_uc002tdu.2_Silent_p.Q380Q|RGPD4_uc010ywl.1_RNA NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1193 intracellular transport binding skin(2) 2 AGTTAATACAGAGAGCTGAAG 0.388 NA 34 36 0 0 0.011902 0 0 EPB41L5 57669 broad.mit.edu 37 2 120900596 120900596 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr2:120900596G>C uc002tmg.2 + 19 1743 c.1617G>C c.(1615-1617)TTG>TTC p.L539F EPB41L5_uc010fll.2_Missense_Mutation_p.L539F|EPB41L5_uc010flm.2_Missense_Mutation_p.L343F NM_020909 NP_065960 Q9HCM4 E41L5_HUMAN erythrocyte membrane protein band 4.1 like 5 539 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding ovary(1) 1 TGGTGAAGTTGACTGAGAAAT 0.348 NA 4 107 0 0 0.009096 0 0 POTEE 445582 broad.mit.edu 37 2 131976380 131976380 + Silent SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr2:131976380C>T uc002tsn.2 + 1 457 c.405C>T c.(403-405)GTC>GTT p.V135V PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN protein expressed in prostate, ovary, testis, 135 ATP binding 0 GGTACCACGTCCGTGGAGAAG 0.597 NA 31 103 0 0 0.003755 0 0 RIF1 55183 broad.mit.edu 37 2 152303012 152303012 + Missense_Mutation SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr2:152303012G>A uc002txm.2 + 20 2297 c.2167G>A c.(2167-2169)GCA>ACA p.A723T RIF1_uc002txl.2_Missense_Mutation_p.A723T|RIF1_uc010fnv.1_Missense_Mutation_p.A687T|RIF1_uc002txn.2_Missense_Mutation_p.A723T|RIF1_uc002txo.2_Missense_Mutation_p.A723T NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN RAP1 interacting factor 1 723 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1) 15 BRCA - Breast invasive adenocarcinoma(221;0.0429) TGCTTTGGTGGCAACAGCAGA 0.408 NA 5 230 0 0 0.000602 0 0 ACVR1 90 broad.mit.edu 37 2 158626930 158626930 + Missense_Mutation SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr2:158626930C>T uc002tzm.3 - 8 1079 c.740G>A c.(739-741)AGG>AAG p.R247K ACVR1_uc002tzn.3_Missense_Mutation_p.R247K|ACVR1_uc010fog.2_Missense_Mutation_p.R247K NM_001111067 NP_001104537 Q04771 ACVR1_HUMAN activin A receptor, type I precursor 247 Cytoplasmic (Potential).|Protein kinase. BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway activin receptor complex activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.104) Adenosine triphosphate(DB00171) TTCCGTTTCCCTGAACCATGA 0.463 NA 47 111 0 0 0.01441 0 0 SCN9A 6335 broad.mit.edu 37 2 167168258 167168258 + Missense_Mutation SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr2:167168258C>T uc010fpl.2 - 2 350 c.9G>A c.(7-9)ATG>ATA p.M3I NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 3 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) GGGGAGGCAACATTGCCATCT 0.418 NA 35 54 0 0 0.00623 0 0 TTN 7273 broad.mit.edu 37 2 179417425 179417425 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr2:179417425C>G uc010zfg.1 - 284 82722 c.82498G>C c.(82498-82500)GAA>CAA p.E27500Q uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E21195Q|TTN_uc010zfi.1_Missense_Mutation_p.E21128Q|TTN_uc010zfj.1_Missense_Mutation_p.E21003Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 28427 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) CCTTTCCTTTCTACAACATAT 0.448 NA 4 112 0 0 0.009096 0 0 TTN 7273 broad.mit.edu 37 2 179432168 179432168 + Missense_Mutation SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr2:179432168C>T uc010zfg.1 - 275 71211 c.70987G>A c.(70987-70989)GAT>AAT p.D23663N uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D17358N|TTN_uc010zfi.1_Missense_Mutation_p.D17291N|TTN_uc010zfj.1_Missense_Mutation_p.D17166N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 24590 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) ATTTCCTTATCTCCTCTTAAC 0.378 NA 4 141 0 0 0.009096 0 0 TTN 7273 broad.mit.edu 37 2 179650595 179650595 + Missense_Mutation SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr2:179650595C>T uc010zfg.1 - 14 2574 c.2350G>A c.(2350-2352)GGA>AGA p.G784R TTN_uc010zfh.1_Missense_Mutation_p.G738R|TTN_uc010zfi.1_Missense_Mutation_p.G738R|TTN_uc010zfj.1_Missense_Mutation_p.G738R|TTN_uc002unb.2_Missense_Mutation_p.G784R|TTN_uc010frg.1_Missense_Mutation_p.G366R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 784 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) ATGTGCATTCCCTTTTGATCA 0.463 NA 24 66 0 0 0.004656 0 0 PARD3B 117583 broad.mit.edu 37 2 206023445 206023445 + Splice_Site SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr2:206023445G>C uc002var.1 + 11 1642 c.1435_splice c.e11-1 p.K479_splice PARD3B_uc010fub.1_Splice_Site_p.K479_splice|PARD3B_uc002vao.1_Splice_Site_p.K479_splice|PARD3B_uc002vap.1_Intron|PARD3B_uc002vaq.1_Splice_Site_p.K479_splice NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform cell cycle|cell division endomembrane system|tight junction skin(2)|ovary(1)|breast(1) 4 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) TCCCCTAACAGAAAGGAGAAC 0.478 NA 4 167 0 0 0.000602 0 0 CRYGB 1419 broad.mit.edu 37 2 209007437 209007437 + Silent SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr2:209007437C>T uc002vcp.3 - 3 486 c.453G>A c.(451-453)GAG>GAA p.E151E NM_005210 NP_005201 P07316 CRGB_HUMAN crystallin, gamma B 151 Beta/gamma crystallin 'Greek key' 4. visual perception structural constituent of eye lens 0 Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132) ACCTCCTGTACTCCCCCGGCC 0.502 NA 28 166 0 0 0.009535 0 0 SPAG16 79582 broad.mit.edu 37 2 214354705 214354705 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr2:214354705G>C uc002veq.2 + 10 1053 c.961G>C c.(961-963)GAT>CAT p.D321H SPAG16_uc010fuz.1_Missense_Mutation_p.D172H|SPAG16_uc002ver.2_Missense_Mutation_p.D267H|SPAG16_uc010zjk.1_Missense_Mutation_p.D227H NM_024532 NP_078808 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 isoform 1 321 cilium assembly cilium axoneme|flagellar axoneme ovary(1)|skin(1) 2 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) ATTTCCCATAGATATGCAACC 0.313 NA 10 78 0 0 0.013537 0 0 SPEG 10290 broad.mit.edu 37 2 220344819 220344819 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr2:220344819G>C uc010fwg.2 + 25 5299 c.5299G>C c.(5299-5301)GAG>CAG p.E1767Q NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 1767 Protein kinase 1. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) TGTAGCACCCGAGATTGTCAA 0.607 NA 6 105 0 0 0.001984 0 0 PANK2 80025 broad.mit.edu 37 20 3897586 3897586 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr20:3897586G>C uc002wkc.2 + 5 1431 c.1425G>C c.(1423-1425)ATG>ATC p.M475I PANK2_uc002wkb.2_Missense_Mutation_p.M184I|PANK2_uc002wkd.2_RNA|PANK2_uc002wke.2_Missense_Mutation_p.M184I|PANK2_uc002wkf.2_Missense_Mutation_p.M39I|uc002wkg.2_5'Flank|MIR103-2_hsa-mir-103-2|MI0000108_5'Flank NM_153638 NP_705902 Q9BZ23 PANK2_HUMAN pantothenate kinase 2 isoform 1 preproprotein 475 M -> K (in Ref. 2; BAB13897). cell death|coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial intermembrane space|nucleus ATP binding|pantothenate kinase activity|protein binding 0 TTGGAAACATGATGAGCAAGG 0.418 NA 3 55 0 0 0.004672 0 0 LRRN4 164312 broad.mit.edu 37 20 6022399 6022399 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr20:6022399G>C uc002wmo.2 - 5 1716 c.1492C>G c.(1492-1494)CAG>GAG p.Q498E NM_152611 NP_689824 Q8WUT4 LRRN4_HUMAN leucine rich repeat neuronal 4 precursor 498 Extracellular (Potential). integral to membrane skin(3) 3 TGGCCGGGCTGAGGCGAGCTT 0.632 NA 8 209 0 0 0.006214 0 0 ACSS2 55902 broad.mit.edu 37 20 33508916 33508916 + Missense_Mutation SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr20:33508916G>A uc002xbd.2 + 10 1372 c.1251G>A c.(1249-1251)ATG>ATA p.M417I ACSS2_uc002xbc.2_Missense_Mutation_p.M322I|ACSS2_uc010zum.1_Intron|ACSS2_uc010gey.2_Missense_Mutation_p.M430I|ACSS2_uc002xbe.2_Missense_Mutation_p.M125I|ACSS2_uc002xbf.2_Intron NM_018677 NP_061147 Q9NR19 ACSA_HUMAN acyl-CoA synthetase short-chain family member 2 417 ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process cytosol|nucleus acetate-CoA ligase activity|ATP binding|protein binding 0 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) GTCTGCTCATGAAGTTTGGAG 0.537 NA 9 310 0 0 0.008291 0 0 CHD6 84181 broad.mit.edu 37 20 40122243 40122243 + Missense_Mutation SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr20:40122243C>T uc002xka.1 - 10 1427 c.1249G>A c.(1249-1251)GAT>AAT p.D417N CHD6_uc002xkd.2_Missense_Mutation_p.D395N NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 417 Chromo 2. chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) GGATCTACATCTTCCTCTAGC 0.418 NA 6 127 0 0 0.00308 0 0 PLTP 5360 broad.mit.edu 37 20 44539798 44539798 + Missense_Mutation SNP T T C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr20:44539798T>C uc002xqn.1 - 3 273 c.193A>G c.(193-195)ATC>GTC p.I65V PLTP_uc002xql.1_5'Flank|PLTP_uc002xqm.1_Missense_Mutation_p.I85V|PLTP_uc002xqo.1_Missense_Mutation_p.I65V|PLTP_uc002xqp.1_Missense_Mutation_p.I65V|PLTP_uc002xqq.1_Missense_Mutation_p.I34V|PLTP_uc010zxj.1_Missense_Mutation_p.I65V|PLTP_uc010ghj.1_Missense_Mutation_p.I65V NM_006227 NP_006218 P55058 PLTP_HUMAN phospholipid transfer protein isoform a 65 cellular lipid metabolic process|lipid transport extracellular region lipid binding ovary(1) 1 Myeloproliferative disorder(115;0.0122) TACTCAGAGATGTTGTAGTAG 0.637 NA 3 133 0 0 0.004672 0 0 FAM65C 140876 broad.mit.edu 37 20 49209728 49209728 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr20:49209728G>C uc002xvm.2 - 18 2524 c.2206C>G c.(2206-2208)CGC>GGC p.R736G FAM65C_uc010zyt.1_Missense_Mutation_p.R740G|FAM65C_uc010zyu.1_RNA NM_080829 NP_543019 Q96MK2 FA65C_HUMAN hypothetical protein LOC140876 736 ovary(2) 2 AGGAGCCTGCGGCACGCTGGC 0.582 NA 18 37 0 0 0.004656 0 0 C20orf200 253868 broad.mit.edu 37 20 61143770 61143770 + Silent SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr20:61143770C>T uc002ycz.1 - 3 569 c.78G>A c.(76-78)GAG>GAA p.E26E C20orf200_uc002ycy.2_RNA NM_152757 NP_689970 hypothetical protein LOC253868 0 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;7.17e-06) AACCGCTGCTCTCCTGCGTCC 0.662 NA 9 129 0 0 0.008291 0 0 SETD4 54093 broad.mit.edu 37 21 37420692 37420692 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr21:37420692C>G uc002yuw.1 - 4 1583 c.210G>C c.(208-210)GAG>GAC p.E70D SETD4_uc002yux.1_Missense_Mutation_p.E46D|SETD4_uc002yuu.2_Intron|SETD4_uc002yuv.2_Missense_Mutation_p.E70D|SETD4_uc002yuy.2_Missense_Mutation_p.E70D|SETD4_uc002yuz.2_Missense_Mutation_p.E46D|SETD4_uc002yva.2_Missense_Mutation_p.E46D NM_017438 NP_059134 Q9NVD3 SETD4_HUMAN SET domain containing 4 isoform a 70 SET. large_intestine(1)|ovary(1) 2 TCATCTGTCCCTCCTGGCCAA 0.473 NA 139 229 0 0 0.01441 0 0 TRPM2 7226 broad.mit.edu 37 21 45846542 45846542 + Splice_Site SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr21:45846542G>C uc002zet.1 + 27 4009 c.3796_splice c.e27-1 p.T1266_splice TRPM2_uc002zeu.1_Splice_Site_p.T1266_splice|TRPM2_uc002zew.1_Splice_Site_p.T1266_splice|TRPM2_uc010gpt.1_Splice_Site_p.T1316_splice|TRPM2_uc002zex.1_Splice_Site_p.T1052_splice|TRPM2_uc002zey.1_Splice_Site_p.T779_splice|uc011afe.1_5'Flank|TRPM2_uc011aff.1_Intron NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 TTTTGCGACAGACGGAGTTCC 0.587 NA 3 153 0 0 0.009096 0 0 COL18A1 80781 broad.mit.edu 37 21 46908346 46908346 + Silent SNP G G T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr21:46908346G>T uc011afs.1 + 17 3177 c.3156G>T c.(3154-3156)CTG>CTT p.L1052L COL18A1_uc002zhg.2_Silent_p.L637L|COL18A1_uc002zhi.2_Silent_p.L817L NM_130444 NP_569711 P39060 COIA1_HUMAN alpha 1 type XVIII collagen isoform 3 precursor 1052 Triple-helical region 4 (COL4). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding central_nervous_system(1) 1 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) CTCCCGGCCTGCCGGGACTTA 0.607 NA 8 129 0.000274275 0.000313901 0.004482 1 0 PI4KA 5297 broad.mit.edu 37 22 21174157 21174157 + Silent SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr22:21174157C>G uc002zsz.3 - 6 618 c.387G>C c.(385-387)CTG>CTC p.L129L PI4KA_uc010gsq.1_Silent_p.L187L NM_058004 NP_477352 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase type 3 alpha 129 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1) 4 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) AGATTCCTATCAGGCATGGGA 0.428 GBM(136;1332 1831 3115 23601 50806) NA 4 207 0 0 0.001168 0 0 CRKL 1399 broad.mit.edu 37 22 21288146 21288146 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr22:21288146C>G uc002ztf.2 + 2 900 c.391C>G c.(391-393)CTG>GTG p.L131V CRKL_uc002ztg.1_RNA NM_005207 NP_005198 P46109 CRKL_HUMAN v-crk sarcoma virus CT10 oncogene homolog 131 SH3 1. JNK cascade|Ras protein signal transduction cytosol protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity 0 all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176) TGTACGGACTCTGTATGATTT 0.463 Pancreas(85;3 1441 23889 42519 42763) NA 23 161 0 0 0.00278 0 0 MYO18B 84700 broad.mit.edu 37 22 26317265 26317265 + Silent SNP A A G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr22:26317265A>G uc003abz.1 + 34 5656 c.5406A>G c.(5404-5406)AGA>AGG p.R1802R MYO18B_uc003aca.1_Silent_p.R1683R|MYO18B_uc010guy.1_Silent_p.R1684R|MYO18B_uc010guz.1_Silent_p.R1682R|MYO18B_uc011aka.1_Silent_p.R956R|MYO18B_uc011akb.1_Silent_p.R1315R NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1802 Tail. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 GACTTCGGAGAGACCTCAGGA 0.488 NA 2 8 0 0 0.004672 0 0 NF2 4771 broad.mit.edu 37 22 30077432 30077432 + Missense_Mutation SNP G G C rs74315505 TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr22:30077432G>C uc003age.3 + 15 2022 c.1579G>C c.(1579-1581)GAA>CAA p.E527Q NF2_uc003afy.3_Missense_Mutation_p.E527Q|NF2_uc003afz.3_Missense_Mutation_p.E444Q|NF2_uc003agf.3_Missense_Mutation_p.E527Q|NF2_uc003agb.3_Missense_Mutation_p.E450Q|NF2_uc003agc.3_Missense_Mutation_p.E489Q|NF2_uc003agd.3_Intron|NF2_uc003agg.3_Missense_Mutation_p.E527Q|NF2_uc003aga.3_Missense_Mutation_p.E485Q|NF2_uc003agh.3_Missense_Mutation_p.E486Q|NF2_uc003agi.3_Missense_Mutation_p.E444Q|NF2_uc003agj.3_Intron|NF2_uc003agk.3_Missense_Mutation_p.E489Q|NF2_uc010gvp.2_Missense_Mutation_p.E191Q|NF2_uc011akq.1_Missense_Mutation_p.E153Q NM_000268 NP_000259 P35240 MERL_HUMAN neurofibromin 2 isoform 1 527 actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane cytoskeletal protein binding|protein binding p.E527fs*22(2)|p.?(2)|p.G502_I577del(1)|p.K525fs*18(1) meninges(372)|soft_tissue(284)|central_nervous_system(20)|kidney(10)|pleura(9)|skin(7)|large_intestine(5)|breast(5)|urinary_tract(3)|thyroid(2)|endometrium(2)|ovary(2)|lung(2)|stomach(2)|bone(2)|pituitary(1) 728 CGGCAGAGTGGAATACATGGA 0.527 NA D|Mis|N|F|S|O meningioma|acoustic neuroma|renal meningioma|acoustic neuroma Neurofibromatosis_type_2 5 134 0 0 0.001168 0 0 SFI1 9814 broad.mit.edu 37 22 31927083 31927083 + Missense_Mutation SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr22:31927083G>A uc003ale.2 + 4 699 c.306G>A c.(304-306)ATG>ATA p.M102I SFI1_uc003ald.1_Intron|SFI1_uc003alf.2_Missense_Mutation_p.M102I|SFI1_uc003alg.2_Intron|SFI1_uc011alp.1_Intron|SFI1_uc011alq.1_Intron|SFI1_uc003alh.2_Intron NM_001007467 NP_001007468 A8K8P3 SFI1_HUMAN spindle assembly associated Sfi1 homolog isoform 102 G2/M transition of mitotic cell cycle centriole|cytosol central_nervous_system(1) 1 GGATTCGAATGACTTTTGGAA 0.338 NA 7 169 0 0 0.004482 0 0 SMCR7L 54471 broad.mit.edu 37 22 39910294 39910294 + Nonsense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr22:39910294C>G uc003axx.2 + 6 1856 c.1358C>G c.(1357-1359)TCA>TGA p.S453* SMCR7L_uc003axw.2_Intron|SMCR7L_uc003axy.2_Nonsense_Mutation_p.S275* NM_019008 NP_061881 Q9NQG6 SMC7L_HUMAN hypothetical protein LOC54471 453 integral to membrane|mitochondrion central_nervous_system(1) 1 Melanoma(58;0.04) CTGTATTGCTCATTGTCTGAG 0.532 NA OREG0026577 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 152 0 0 0.000602 0 0 SRGAP3 9901 broad.mit.edu 37 3 9101977 9101977 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr3:9101977G>C uc003brf.1 - 6 1415 c.739C>G c.(739-741)CTG>GTG p.L247V SRGAP3_uc003brg.1_Missense_Mutation_p.L247V|SRGAP3_uc003bri.1_RNA|SRGAP3_uc003brk.2_Missense_Mutation_p.L247V|SRGAP3_uc003brj.1_Missense_Mutation_p.L107V NM_014850 NP_055665 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 247 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(4) central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(96;0.0563) GTGGCTGCCAGATTGAGCAAG 0.502 NA T RAF1 pilocytic astrocytoma 5 138 0 0 0.001984 0 0 IQSEC1 9922 broad.mit.edu 37 3 12961967 12961967 + Silent SNP C C G rs146107147 byFrequency TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr3:12961967C>G uc003bxt.2 - 6 2034 c.2025G>C c.(2023-2025)CGG>CGC p.R675R IQSEC1_uc003bxu.3_Silent_p.R553R|IQSEC1_uc011auw.1_Silent_p.R661R NM_014869 NP_055684 Q6DN90 IQEC1_HUMAN IQ motif and Sec7 domain 1 isoform b 675 SEC7. regulation of ARF protein signal transduction cytoplasm|nucleus ARF guanyl-nucleotide exchange factor activity ovary(1) 1 GCTTCATTTTCCGCTCGGGCT 0.582 NA 6 180 0 0 0.001168 0 0 OXSM 54995 broad.mit.edu 37 3 25833286 25833286 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr3:25833286G>C uc003cdn.2 + 2 882 c.775G>C c.(775-777)GAT>CAT p.D259H NGLY1_uc011awo.1_5'Flank|OXSM_uc011awp.1_5'UTR|OXSM_uc010hfh.2_Intron NM_017897 NP_060367 Q9NWU1 OXSM_HUMAN 3-oxoacyl-ACP synthase, mitochondrial isoform 1 259 acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process mitochondrion 3-oxoacyl-[acyl-carrier-protein] synthase activity ovary(1)|breast(1) 2 CACAAACTCAGATCCCAAGTT 0.483 NA 9 122 0 0 0.006214 0 0 AZI2 64343 broad.mit.edu 37 3 28379446 28379446 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr3:28379446C>G uc003ceb.2 - 4 953 c.421G>C c.(421-423)GAG>CAG p.E141Q AZI2_uc003cec.2_Missense_Mutation_p.E29Q|AZI2_uc003ced.2_Missense_Mutation_p.E141Q|AZI2_uc003cee.3_Missense_Mutation_p.E141Q|AZI2_uc003ceg.2_Missense_Mutation_p.E141Q|AZI2_uc011axd.1_Missense_Mutation_p.E141Q|AZI2_uc003cef.2_Missense_Mutation_p.E141Q NM_022461 NP_071906 Q9H6S1 AZI2_HUMAN 5-azacytidine induced 2 isoform a 141 Potential. mitochondrion|plasma membrane ovary(2) 2 GTTTCCACCTCTGTCCTCAGC 0.328 NA 3 58 0 0 0.009096 0 0 COL7A1 1294 broad.mit.edu 37 3 48605555 48605555 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr3:48605555C>G uc003ctz.2 - 105 7844 c.7843G>C c.(7843-7845)GAT>CAT p.D2615H NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 2615 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) AAGCCAACATCTCCTTTTTCT 0.542 NA 15 109 0 0 0.004007 0 0 PRICKLE2 166336 broad.mit.edu 37 3 64148775 64148775 + Missense_Mutation SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr3:64148775C>T uc003dmf.2 - 3 761 c.175G>A c.(175-177)GAG>AAG p.E59K NM_198859 NP_942559 Q7Z3G6 PRIC2_HUMAN prickle-like 2 59 PET. cytoplasm|nuclear membrane zinc ion binding ovary(4)|skin(1) 5 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) GGGACTTTCTCTTCTGGGAGA 0.488 NA 12 275 0 0 0.010729 0 0 CCDC52 152185 broad.mit.edu 37 3 113225439 113225439 + Missense_Mutation SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr3:113225439C>T uc003eag.3 - 2 305 c.14G>A c.(13-15)AGA>AAA p.R5K CCDC52_uc003eaf.3_RNA|CCDC52_uc011bie.1_Missense_Mutation_p.R17K|CCDC52_uc003eai.1_Missense_Mutation_p.R5K NM_144718 NP_653319 Q8N0Z3 SPICE_HUMAN coiled-coil domain containing 52 5 cell division|mitosis centriole|spindle protein binding 0 GCGGTTCACTCTGACAAATGA 0.378 NA 4 37 0 0 0.000602 0 0 ATP6V1A 523 broad.mit.edu 37 3 113528247 113528247 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr3:113528247G>C uc003eao.2 + 15 1893 c.1827G>C c.(1825-1827)CAG>CAC p.Q609H ATP6V1A_uc011bik.1_Missense_Mutation_p.Q576H NM_001690 NP_001681 P38606 VATA_HUMAN ATPase, H+ transporting, lysosomal V1 subunit A 609 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism ovary(2)|skin(1) 3 AAGACATGCAGAATGCATTCC 0.393 NA 9 93 0 0 0.010729 0 0 PARP15 165631 broad.mit.edu 37 3 122335957 122335957 + Missense_Mutation SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr3:122335957G>A uc003efm.2 + 6 1012 c.946G>A c.(946-948)GAA>AAA p.E316K PARP15_uc003efn.2_Missense_Mutation_p.E190K|PARP15_uc003efo.1_Missense_Mutation_p.E63K|PARP15_uc003efp.1_Missense_Mutation_p.E82K|PARP15_uc011bjt.1_Missense_Mutation_p.E82K NM_001113523 NP_001106995 Q460N3 PAR15_HUMAN poly (ADP-ribose) polymerase family, member 15 294 Macro 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NAD+ ADP-ribosyltransferase activity lung(3)|upper_aerodigestive_tract(1)|ovary(1) 5 GBM - Glioblastoma multiforme(114;0.0531) TATAGCCACTGAACAGGTAGA 0.353 NA 6 203 0 0 0.001984 0 0 ZIC4 84107 broad.mit.edu 37 3 147113672 147113672 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr3:147113672C>G uc003ewd.1 - 3 928 c.655G>C c.(655-657)GAA>CAA p.E219Q ZIC4_uc003ewc.1_Missense_Mutation_p.E149Q|ZIC4_uc011bno.1_Missense_Mutation_p.E269Q NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 219 C2H2-type 3. nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 TTGAGATTTTCTGATCTAGCA 0.532 NA 4 165 0 0 0.009096 0 0 AADACL2 344752 broad.mit.edu 37 3 151475041 151475041 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr3:151475041G>C uc003ezc.2 + 5 985 c.865G>C c.(865-867)GAG>CAG p.E289Q AADACL2_uc010hvn.2_Missense_Mutation_p.E76Q NM_207365 NP_997248 Q6P093 ADCL2_HUMAN arylacetamide deacetylase-like 2 precursor 289 extracellular region|integral to membrane carboxylesterase activity 0 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) TCTTCTTCCTGAGAAGTATAG 0.413 NA 6 110 0 0 0.001168 0 0 PTX3 5806 broad.mit.edu 37 3 157160340 157160340 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr3:157160340C>G uc003fbl.3 + 3 861 c.718C>G c.(718-720)CTC>GTC p.L240V VEPH1_uc003fbj.1_Intron|VEPH1_uc003fbk.1_Intron|VEPH1_uc010hvu.1_Intron NM_002852 NP_002843 P26022 PTX3_HUMAN pentraxin 3 precursor 240 Pentaxin. inflammatory response extracellular region central_nervous_system(1) 1 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) CCAGCTGTATCTCAGCTACCA 0.473 NA 3 111 0 0 0.009096 0 0 GNB4 59345 broad.mit.edu 37 3 179132738 179132738 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr3:179132738G>C uc003fjv.3 - 6 645 c.365C>G c.(364-366)TCT>TGT p.S122C GNB4_uc003fju.3_Missense_Mutation_p.S33C NM_021629 NP_067642 Q9HAV0 GBB4_HUMAN guanine nucleotide-binding protein, beta-4 122 WD 2. cellular response to glucagon stimulus|energy reserve metabolic process plasma membrane signal transducer activity skin(2) 2 all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237) GTTATATATAGAGCAGATGTT 0.473 Melanoma(105;1405 1491 7265 20440 33721) NA 27 196 0 0 0.005443 0 0 YEATS2 55689 broad.mit.edu 37 3 183508768 183508768 + Missense_Mutation SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr3:183508768G>A uc003fly.2 + 21 3292 c.3097G>A c.(3097-3099)GGA>AGA p.G1033R YEATS2_uc003flz.2_Missense_Mutation_p.D112N NM_018023 NP_060493 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 1033 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding ovary(3)|large_intestine(1) 4 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CACAGTATCCGGTGAGTTGCA 0.428 NA 30 75 0 0 0.006999 0 0 FETUB 26998 broad.mit.edu 37 3 186370114 186370114 + Silent SNP G G T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr3:186370114G>T uc010hyq.2 + 8 1104 c.843G>T c.(841-843)GTG>GTT p.V281V FETUB_uc011brz.1_Silent_p.V133V|FETUB_uc003fqn.2_Silent_p.V281V|FETUB_uc003fqo.2_Silent_p.V176V|FETUB_uc010hyr.2_Silent_p.V244V|FETUB_uc010hys.2_Silent_p.V133V|FETUB_uc003fqp.3_Silent_p.V216V NM_014375 NP_055190 Q9UGM5 FETUB_HUMAN fetuin B precursor 281 extracellular space cysteine-type endopeptidase inhibitor activity ovary(1)|lung(1) 2 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) TTCCCAAGGTGGAAGAATCCC 0.468 NA 75 150 6.85908e-49 8.6058e-49 0.01441 1 0 BOD1L 259282 broad.mit.edu 37 4 13605037 13605037 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr4:13605037G>C uc003gmz.1 - 10 3604 c.3487C>G c.(3487-3489)CAA>GAA p.Q1163E BOD1L_uc010idr.1_Missense_Mutation_p.Q500E NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1163 DNA binding ovary(5)|breast(1) 6 TCATCCTTTTGAACAGTGGCA 0.373 NA 16 150 0 0 0.006122 0 0 NCAPG 64151 broad.mit.edu 37 4 17818967 17818967 + Missense_Mutation SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr4:17818967C>T uc003gpp.2 + 6 1035 c.859C>T c.(859-861)CGG>TGG p.R287W NCAPG_uc011bxj.1_5'UTR NM_022346 NP_071741 Q9BPX3 CND3_HUMAN chromosome condensation protein G 287 HEAT 5. cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus protein binding large_intestine(1) 1 STAD - Stomach adenocarcinoma(129;0.18) GTTGCTCCATCGGTTGGATGT 0.408 NA 10 167 0 0 0.010729 0 0 KLHL5 51088 broad.mit.edu 37 4 39082722 39082722 + Splice_Site SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr4:39082722G>C uc003gts.2 + 3 780 c.705_splice c.e3-1 p.R235_splice KLHL5_uc003gtp.2_Splice_Site_p.R189_splice|KLHL5_uc003gtq.2_Splice_Site_p.R48_splice|KLHL5_uc003gtr.1_Splice_Site_p.R235_splice|KLHL5_uc003gtt.2_Splice_Site_p.R174_splice NM_015990 NP_057074 Q96PQ7 KLHL5_HUMAN kelch-like 5 isoform 1 cytoplasm|cytoskeleton actin binding ovary(1) 1 TGTGTTCACAGATTGGTGCTC 0.363 NA 5 141 0 0 0.000602 0 0 UGDH 7358 broad.mit.edu 37 4 39505518 39505518 + Missense_Mutation SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr4:39505518C>T uc003guk.1 - 11 1667 c.1351G>A c.(1351-1353)GAA>AAA p.E451K UGDH_uc011byp.1_Missense_Mutation_p.E354K|UGDH_uc003gul.1_Missense_Mutation_p.E384K NM_003359 NP_003350 O60701 UGDH_HUMAN UDP-glucose dehydrogenase 451 glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 NADH(DB00157) GTTTGTAGTTCATTGTGGAGC 0.328 NA 4 86 0 0 0.001168 0 0 GABRA2 2555 broad.mit.edu 37 4 46307713 46307713 + Nonsense_Mutation SNP G G T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr4:46307713G>T uc003gxc.3 - 6 1248 c.575C>A c.(574-576)TCA>TAA p.S192* GABRA2_uc010igc.2_Nonsense_Mutation_p.S192*|GABRA2_uc011bzc.1_Nonsense_Mutation_p.S137*|GABRA2_uc003gxe.2_Nonsense_Mutation_p.S192* NM_001114175 NP_001107647 P47869 GBRA2_HUMAN gamma-aminobutyric acid A receptor, alpha 2 192 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|skin(2) 4 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AGTGACCTCTGAAGTTGTATA 0.363 NA 33 41 4.3181e-19 5.25455e-19 0.013726 1 0 REST 5978 broad.mit.edu 37 4 57777211 57777211 + Missense_Mutation SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr4:57777211C>T uc003hch.2 + 2 754 c.407C>T c.(406-408)TCA>TTA p.S136L REST_uc003hci.2_Missense_Mutation_p.S136L|REST_uc003hcj.1_Missense_Mutation_p.S136L|REST_uc010ihf.2_5'UTR NM_005612 NP_005603 Q13127 REST_HUMAN RE1-silencing transcription factor 136 cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1) 9 Glioma(25;0.08)|all_neural(26;0.181) ATTTACAGTTCAAATAAAGAT 0.473 NA 7 132 0 0 0.001984 0 0 MOBKL1A 92597 broad.mit.edu 37 4 71844961 71844961 + Nonsense_Mutation SNP G G T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr4:71844961G>T uc003hfw.2 + 5 716 c.526G>T c.(526-528)GAA>TAA p.E176* MOBKL1A_uc011cba.1_Nonsense_Mutation_p.E181* NM_173468 NP_775739 Q7L9L4 MOL1A_HUMAN MOB1, Mps One Binder kinase activator-like 1A 176 hippo signaling cascade|protein autophosphorylation cytoplasm|nucleus kinase activator activity|kinase binding|metal ion binding 0 all_hematologic(202;0.21) Lung(101;0.235) GCTTCAGGAGGAAGCACATCT 0.393 NA 23 152 1.55469e-16 1.88053e-16 0.00333 1 0 THAP9 79725 broad.mit.edu 37 4 83829085 83829085 + Missense_Mutation SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr4:83829085G>A uc003hnt.2 + 4 847 c.728G>A c.(727-729)AGA>AAA p.R243K THAP9_uc003hns.1_Missense_Mutation_p.R99K|THAP9_uc003hnu.1_RNA|THAP9_uc003hnv.2_5'UTR NM_024672 NP_078948 Q9H5L6 THAP9_HUMAN THAP domain containing 9 243 DNA binding|metal ion binding ovary(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 5 Hepatocellular(203;0.114) TCCATCCTCAGAACGTAAGTG 0.313 NA 4 90 0 0 0.009096 0 0 PHF17 79960 broad.mit.edu 37 4 129792527 129792527 + Missense_Mutation SNP T T C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr4:129792527T>C uc003igk.2 + 11 1919 c.1639T>C c.(1639-1641)TCC>CCC p.S547P PHF17_uc003igl.2_Missense_Mutation_p.S535P|PHF17_uc011cgy.1_Missense_Mutation_p.S547P NM_199320 NP_955352 Q6IE81 JADE1_HUMAN PHD finger protein 17 long isoform 547 Poly-Ser. apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent histone acetyltransferase complex|mitochondrion protein binding|zinc ion binding 0 TTCTTCCTGCTCCTCCTCCTC 0.413 NA 8 352 0 0 0.00308 0 0 TIGD4 201798 broad.mit.edu 37 4 153691681 153691681 + Missense_Mutation SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr4:153691681G>A uc003imy.2 - 2 1258 c.476C>T c.(475-477)TCG>TTG p.S159L NM_145720 NP_663772 Q8IY51 TIGD4_HUMAN tigger transposable element derived 4 159 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|DNA binding p.S159S(1) ovary(1) 1 all_hematologic(180;0.093) CCAGACAGTCGAAGGGTCTAC 0.358 NA 6 67 0 0 0.001168 0 0 TRIM2 23321 broad.mit.edu 37 4 154215474 154215474 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr4:154215474C>G uc003ing.2 + 5 743 c.542C>G c.(541-543)TCT>TGT p.S181C TRIM2_uc003inh.2_Missense_Mutation_p.S208C NM_001130067 NP_001123539 Q9C040 TRIM2_HUMAN tripartite motif-containing 2 isoform 2 181 cytoplasm zinc ion binding central_nervous_system(1) 1 all_hematologic(180;0.093) Medulloblastoma(177;0.00225) GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703) GAAATAGATTCTGCTCTTCAG 0.388 NA 5 99 0 0 0.001984 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156634681 156634681 + Silent SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr4:156634681C>G uc003iov.2 + 8 2054 c.1518C>G c.(1516-1518)CTC>CTG p.L506L GUCY1A3_uc010iqc.2_Silent_p.L506L|GUCY1A3_uc003iow.2_Silent_p.L506L|GUCY1A3_uc010iqd.2_Silent_p.L505L|GUCY1A3_uc003iox.2_Silent_p.L506L|GUCY1A3_uc003ioz.2_Silent_p.L271L|GUCY1A3_uc003ioy.2_Silent_p.L506L|GUCY1A3_uc010iqe.2_Silent_p.L271L|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Silent_p.L506L NM_000856 NP_000847 Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 isoform A 506 Guanylate cyclase. blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) TCACCATGCTCAATGCACTGT 0.502 NA 4 52 0 0 0.000602 0 0 TMEM144 55314 broad.mit.edu 37 4 159161476 159161476 + Silent SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr4:159161476C>T uc003ipx.2 + 10 1228 c.708C>T c.(706-708)TTC>TTT p.F236F TMEM144_uc010iqi.2_RNA NM_018342 NP_060812 Q7Z5S9 TM144_HUMAN transmembrane protein 144 236 Helical; (Potential). integral to membrane 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0539) TTGCGCACTTCAGTGGCATCT 0.343 NA 5 90 0 0 0.001168 0 0 SH3RF1 57630 broad.mit.edu 37 4 170017808 170017808 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr4:170017808C>G uc003isa.1 - 12 2864 c.2529G>C c.(2527-2529)CAG>CAC p.Q843H NM_020870 NP_065921 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 843 SH3 4. Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding breast(2)|lung(1) 3 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) CTGCCTCACTCTGAGGAGGAT 0.393 NA 3 103 0 0 0.004672 0 0 ACSL1 2180 broad.mit.edu 37 4 185697770 185697770 + Silent SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr4:185697770G>C uc003iww.2 - 7 918 c.624C>G c.(622-624)CTC>CTG p.L208L ACSL1_uc011ckm.1_Silent_p.L37L|ACSL1_uc003iwt.1_Silent_p.L208L|ACSL1_uc003iwu.1_Silent_p.L208L|ACSL1_uc011ckn.1_Silent_p.L174L|ACSL1_uc003iwv.1_Silent_p.L208L|ACSL1_uc010ise.1_5'Flank NM_001995 NP_001986 P33121 ACSL1_HUMAN acyl-CoA synthetase long-chain family member 1 208 Cytoplasmic (Potential). digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity ovary(2) 2 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146) all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CCTCTAATAAGAGTTTGGCCT 0.418 NA 4 92 0 0 0.000602 0 0 TRIP13 9319 broad.mit.edu 37 5 895027 895027 + Missense_Mutation SNP T T C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr5:895027T>C uc003jbr.2 + 2 328 c.218T>C c.(217-219)GTG>GCG p.V73A BRD9_uc003jbn.2_5'Flank|BRD9_uc011cmb.1_5'Flank|BRD9_uc003jbo.2_5'Flank|BRD9_uc003jbq.2_5'Flank|BRD9_uc011cmc.1_5'Flank|TRIP13_uc010ite.1_Missense_Mutation_p.V73A NM_004237 NP_004228 Q15645 PCH2_HUMAN thyroid hormone receptor interactor 13 73 double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity 0 Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165) GTGCAGTCTGTGTCTATTATT 0.368 NA 33 88 0 0 0.003271 0 0 NKD2 85409 broad.mit.edu 37 5 1038130 1038130 + Missense_Mutation SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr5:1038130C>T uc003jbt.1 + 10 1003 c.998C>T c.(997-999)TCC>TTC p.S333F NKD2_uc010itf.1_3'UTR NM_033120 NP_149111 Q969F2 NKD2_HUMAN naked cuticle homolog 2 333 Interaction with TGFA. exocytosis|Wnt receptor signaling pathway cytoplasmic membrane-bounded vesicle|plasma membrane calcium ion binding|ubiquitin protein ligase binding 0 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09) Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165) TTCCTCAAGTCCCCCAAGGGC 0.711 NA 5 11 0 0 0.004482 0 0 GOLPH3 64083 broad.mit.edu 37 5 32135777 32135777 + Missense_Mutation SNP C C A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr5:32135777C>A uc003jhp.1 - 3 658 c.373G>T c.(373-375)GAT>TAT p.D125Y NM_022130 NP_071413 Q9H4A6 GOLP3_HUMAN golgi phosphoprotein 3 125 cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network protein binding ovary(1) 1 GTTGGAGCATCTGACTTACAG 0.373 NA 45 80 6.08268e-21 7.44667e-21 0.01441 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33684050 33684050 + Missense_Mutation SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr5:33684050C>T uc003jia.1 - 4 908 c.745G>A c.(745-747)GAG>AAG p.E249K ADAMTS12_uc010iuq.1_Missense_Mutation_p.E249K NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 249 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 ACCAGTGTCTCCACCCATCTC 0.527 NA HNSCC(64;0.19) 12 76 0 0 0.010729 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33881537 33881537 + Missense_Mutation SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr5:33881537C>T uc003jia.1 - 2 339 c.176G>A c.(175-177)CGA>CAA p.R59Q ADAMTS12_uc010iuq.1_Missense_Mutation_p.R59Q|ADAMTS12_uc003jib.1_Missense_Mutation_p.R59Q NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 59 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 GGCATCTACTCGGACTGGACC 0.488 NA HNSCC(64;0.19) 29 211 0 0 0.009535 0 0 SRFBP1 153443 broad.mit.edu 37 5 121355964 121355964 + Silent SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr5:121355964G>A uc003kst.1 + 6 606 c.534G>A c.(532-534)AAG>AAA p.K178K NM_152546 NP_689759 Q8NEF9 SRFB1_HUMAN serum response factor binding protein 1 178 regulation of transcription, DNA-dependent|transcription, DNA-dependent perinuclear region of cytoplasm 0 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517) TATTGGCGAAGAAACCAATAC 0.343 NA 36 64 0 0 0.005524 0 0 GDF9 2661 broad.mit.edu 37 5 132197487 132197487 + Missense_Mutation SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr5:132197487G>A uc003kxz.1 - 2 1411 c.1159C>T c.(1159-1161)CCA>TCA p.P387S GDF9_uc011cxj.1_Missense_Mutation_p.P299S NM_005260 NP_005251 O60383 GDF9_HUMAN growth differentiation factor 9 precursor 387 female gamete generation|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity skin(1) 1 all_cancers(142;0.105)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ACTGCCCTTGGACAGTCCCCT 0.502 NA 4 90 0 0 0.000602 0 0 SMAD5 4090 broad.mit.edu 37 5 135496714 135496714 + Silent SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr5:135496714C>T uc003lbj.1 + 5 1017 c.573C>T c.(571-573)AGC>AGT p.S191S SMAD5_uc003lbk.1_Silent_p.S191S|SMAD5_uc003lbl.1_Silent_p.S191S NM_001001419 NP_001001419 Q99717 SMAD5_HUMAN SMAD family member 5 191 BMP signaling pathway|embryonic pattern specification|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytosol|integral to membrane|transcription factor complex sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CTCCAAACAGCCCTTATCCCC 0.483 NA 78 166 0 0 0.01441 0 0 MATR3 9782 broad.mit.edu 37 5 138661216 138661216 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr5:138661216G>C uc003ldu.2 + 16 2663 c.2236G>C c.(2236-2238)GAA>CAA p.E746Q MATR3_uc003ldt.2_Missense_Mutation_p.E408Q|MATR3_uc003ldw.2_Missense_Mutation_p.E794Q|MATR3_uc003ldx.2_Missense_Mutation_p.E746Q|MATR3_uc010jfc.2_Missense_Mutation_p.E746Q|MATR3_uc011czb.1_Missense_Mutation_p.E458Q|MATR3_uc003ldz.2_Missense_Mutation_p.E746Q|MATR3_uc003lea.2_Missense_Mutation_p.E746Q|MATR3_uc003leb.2_Missense_Mutation_p.E408Q|MATR3_uc003lec.2_Missense_Mutation_p.E423Q NM_199189 NP_954659 P43243 MATR3_HUMAN matrin 3 746 nuclear inner membrane|nuclear matrix nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) ACCAGGTGCTGAATCTTCTGA 0.408 NA 5 123 0 0 0.000602 0 0 PCDHA8 56140 broad.mit.edu 37 5 140222271 140222271 + Silent SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr5:140222271C>T uc003lhs.2 + 1 1365 c.1365C>T c.(1363-1365)TTC>TTT p.F455F PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.F455F NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 455 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCCGGCGTTCGCGCAGCCCG 0.672 NA 17 97 0 0 0.007413 0 0 PCDHB3 56132 broad.mit.edu 37 5 140482231 140482231 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr5:140482231C>G uc003lio.2 + 1 1998 c.1998C>G c.(1996-1998)TTC>TTG p.F666L uc003lin.2_5'Flank NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 precursor 666 Extracellular (Potential).|Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGGACGGCTTCTCCCAGCCCT 0.697 NA 6 102 0 0 0.00308 0 0 PCDHB10 56126 broad.mit.edu 37 5 140574422 140574422 + Missense_Mutation SNP T T C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr5:140574422T>C uc003lix.2 + 1 2471 c.2297T>C c.(2296-2298)TTC>TCC p.F766S NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 766 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACCAGTGAGTTCAAGTTCTTG 0.522 NA 53 88 0 0 0.01441 0 0 PCDHB14 56122 broad.mit.edu 37 5 140603931 140603931 + Missense_Mutation SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr5:140603931C>T uc003ljb.2 + 1 854 c.854C>T c.(853-855)TCA>TTA p.S285L PCDHB14_uc011dal.1_Missense_Mutation_p.S132L NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN protocadherin beta 14 precursor 285 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCCATGCATCAGAAGATATT 0.393 Ovarian(141;50 1831 27899 33809 37648) NA 34 64 0 0 0.012213 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140750376 140750376 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr5:140750376G>C uc003ljw.1 + 1 415 c.415G>C c.(415-417)GAG>CAG p.E139Q 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_uc011dat.1_Missense_Mutation_p.E139Q NM_018924 NP_061747 Q9Y5G1 PCDGF_HUMAN protocadherin gamma subfamily B, 3 isoform 1 139 Extracellular (Potential).|Cadherin 2. 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) AAATATCACTGAGCTGGAAAT 0.448 NA 4 283 0 0 0.009096 0 0 RBM27 54439 broad.mit.edu 37 5 145631429 145631429 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr5:145631429C>G uc003lnz.3 + 9 1601 c.1435C>G c.(1435-1437)CTG>GTG p.L479V RBM27_uc003lny.2_Intron NM_018989 NP_061862 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 479 mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding central_nervous_system(2)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCCTACCCCTCTGGTTCCAGG 0.552 NA 6 297 0 0 0.001984 0 0 G3BP1 10146 broad.mit.edu 37 5 151173756 151173756 + Missense_Mutation SNP A A G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr5:151173756A>G uc003lun.2 + 5 559 c.388A>G c.(388-390)ATC>GTC p.I130V G3BP1_uc003lum.2_Missense_Mutation_p.I130V|G3BP1_uc011dcu.1_Intron|G3BP1_uc010jhz.2_Intron|G3BP1_uc003luq.2_5'Flank NM_005754 NP_005745 Q13283 G3BP1_HUMAN Ras-GTPase-activating protein SH3-domain-binding 130 NTF2. Ras protein signal transduction|transport cytosol|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding skin(3)|ovary(1) 4 all_hematologic(541;0.0338)|Medulloblastoma(196;0.091) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) TCACAATGATATCTTCAGATA 0.333 NA 30 117 0 0 0.003271 0 0 SLIT3 6586 broad.mit.edu 37 5 168149326 168149326 + Silent SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr5:168149326C>T uc003mab.2 - 23 2838 c.2418G>A c.(2416-2418)CTG>CTA p.L806L SLIT3_uc010jjg.2_Silent_p.L806L NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 806 LRR 19. 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) GGTTGTAGCTCAGGATCCTGT 0.512 Ovarian(29;311 847 10864 17279 24903) NA 4 53 0 0 0.009096 0 0 GPRIN1 114787 broad.mit.edu 37 5 176025029 176025029 + Missense_Mutation SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr5:176025029C>T uc003meo.1 - 2 1982 c.1807G>A c.(1807-1809)GAG>AAG p.E603K NM_052899 NP_443131 Q7Z2K8 GRIN1_HUMAN G protein-regulated inducer of neurite outgrowth 603 growth cone|plasma membrane ovary(2) 2 all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACTTTTCCCTCTGGGATAGCT 0.572 NA 16 80 0 0 0.004007 0 0 RNF130 55819 broad.mit.edu 37 5 179407141 179407141 + Missense_Mutation SNP C C A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr5:179407141C>A uc003mll.1 - 4 1160 c.753G>T c.(751-753)AAG>AAT p.K251N RNF130_uc003mlm.1_Missense_Mutation_p.K251N NM_018434 NP_060904 Q86XS8 GOLI_HUMAN ring finger protein 130 precursor 251 Cytoplasmic (Potential). apoptosis cytoplasm|integral to membrane|nucleus ubiquitin-protein ligase activity|zinc ion binding lung(2)|ovary(1) 3 all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212) all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGTCACCCTTCTTTACTGTCC 0.398 GBM(24;432 554 38471 39699 51728) NA 6 173 2.0095e-06 2.32618e-06 0.001984 1 0 EXOC2 55770 broad.mit.edu 37 6 637753 637753 + Silent SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr6:637753C>T uc003mtd.2 - 2 200 c.66G>A c.(64-66)ACG>ACA p.T22T EXOC2_uc003mte.2_Silent_p.T22T|EXOC2_uc011dho.1_Intron NM_018303 NP_060773 Q96KP1 EXOC2_HUMAN Sec5 protein 22 IPT/TIG. exocytosis|protein transport breast(4)|ovary(2)|pancreas(1) 7 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) TTGTGACCTTCGTCCATGGTA 0.532 NA 6 231 0 0 0.001984 0 0 MYLK4 340156 broad.mit.edu 37 6 2685595 2685595 + Silent SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr6:2685595G>A uc003mty.3 - 6 777 c.480C>T c.(478-480)CAC>CAT p.H160H NM_001012418 NP_001012418 Q86YV6 MYLK4_HUMAN myosin light chain kinase family, member 4 160 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(3)|ovary(1) 4 Ovarian(93;0.0412) all_hematologic(90;0.0897) TGAGGTTCGCGTGGTCCAGCT 0.577 NA 106 175 0 0 0.01441 0 0 OR2H1 26716 broad.mit.edu 37 6 29430097 29430097 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr6:29430097G>C uc003nmi.2 + 3 994 c.551G>C c.(550-552)CGA>CCA p.R184P OR2H1_uc003nmj.1_Missense_Mutation_p.R184P|OR2H1_uc010jri.1_Missense_Mutation_p.R106P NM_030883 NP_112145 Q9GZK4 OR2H1_HUMAN olfactory receptor, family 2, subfamily H, 184 Extracellular (Potential). R -> G (in Ref. 6; AAC00188). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TCTCTGATTCGACTCTCCTGT 0.502 NA 8 297 0 0 0.004482 0 0 FLOT1 10211 broad.mit.edu 37 6 30708997 30708997 + Silent SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr6:30708997C>T uc003nrm.2 - 5 488 c.324G>A c.(322-324)CAG>CAA p.Q108Q FLOT1_uc011dmr.1_Intron NM_005803 NP_005794 O75955 FLOT1_HUMAN flotillin 1 108 centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction 0 TGATGGCCCTCTGGTGGCCCT 0.597 NA 8 111 0 0 0.00308 0 0 FKBPL 63943 broad.mit.edu 37 6 32097038 32097038 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr6:32097038C>G uc003nzr.2 - 2 790 c.520G>C c.(520-522)GAG>CAG p.E174Q ATF6B_uc003nzo.2_5'Flank|ATF6B_uc003nzn.2_5'Flank|ATF6B_uc011dpg.1_5'Flank|ATF6B_uc011dph.1_5'Flank NM_022110 NP_071393 Q9UIM3 FKBPL_HUMAN WAF-1/CIP1 stabilizing protein 39 174 response to radiation membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity 0 AGCTGAAGCTCTGCTTCCTCA 0.572 NA 7 305 0 0 0.001984 0 0 AGER 177 broad.mit.edu 37 6 32150773 32150773 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr6:32150773C>G uc003oal.1 - 6 560 c.536G>C c.(535-537)AGA>ACA p.R179T AGER_uc003oak.1_5'Flank|AGER_uc003oar.2_Missense_Mutation_p.R78T|AGER_uc011dpm.1_Missense_Mutation_p.R78T|AGER_uc011dpn.1_Missense_Mutation_p.R78T|AGER_uc010jtv.1_Missense_Mutation_p.R179T|AGER_uc011dpo.1_Missense_Mutation_p.R92T|AGER_uc003oam.1_Intron|AGER_uc003oan.1_Missense_Mutation_p.R165T|AGER_uc003oap.1_Missense_Mutation_p.R195T|AGER_uc003oat.1_Missense_Mutation_p.R195T|AGER_uc003oao.1_RNA|AGER_uc003oaq.1_Missense_Mutation_p.R165T|AGER_uc010jtw.1_RNA|AGER_uc003oas.1_Missense_Mutation_p.R179T|AGER_uc003oau.1_Missense_Mutation_p.R179T|AGER_uc011dpp.1_Missense_Mutation_p.R179T|AGER_uc011dpq.1_Missense_Mutation_p.R195T NM_001136 NP_001127 Q15109 RAGE_HUMAN advanced glycosylation end product-specific 179 Extracellular (Potential).|Ig-like C2-type 1. cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity integral to plasma membrane S100 alpha binding|transmembrane receptor activity breast(1) 1 CTCAGGGTGTCTCCTGGTCTG 0.572 NA 19 88 0 0 0.008871 0 0 AGER 177 broad.mit.edu 37 6 32150922 32150922 + Silent SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr6:32150922C>T uc003oal.1 - 5 501 c.477G>A c.(475-477)TTG>TTA p.L159L AGER_uc003oak.1_5'Flank|AGER_uc003oar.2_Silent_p.L58L|AGER_uc011dpm.1_Silent_p.L58L|AGER_uc011dpn.1_Silent_p.L58L|AGER_uc010jtv.1_Silent_p.L159L|AGER_uc011dpo.1_Silent_p.L72L|AGER_uc003oam.1_Intron|AGER_uc003oan.1_Silent_p.L145L|AGER_uc003oap.1_Silent_p.L175L|AGER_uc003oat.1_Silent_p.L175L|AGER_uc003oao.1_RNA|AGER_uc003oaq.1_Silent_p.L145L|AGER_uc010jtw.1_RNA|AGER_uc003oas.1_Silent_p.L159L|AGER_uc003oau.1_Silent_p.L159L|AGER_uc011dpp.1_Silent_p.L159L|AGER_uc011dpq.1_Silent_p.L175L|AGER_uc011dpr.1_Silent_p.L159L NM_001136 NP_001127 Q15109 RAGE_HUMAN advanced glycosylation end product-specific 159 Extracellular (Potential).|Ig-like C2-type 1. cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity integral to plasma membrane S100 alpha binding|transmembrane receptor activity breast(1) 1 GCTTCCCATCCAAGTGCCAGC 0.552 NA 6 111 0 0 0.00308 0 0 RGL2 5863 broad.mit.edu 37 6 33263957 33263957 + Missense_Mutation SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr6:33263957C>T uc003odv.2 - 6 749 c.616G>A c.(616-618)GAC>AAC p.D206N RGL2_uc003odu.2_5'UTR|RGL2_uc010jur.2_Intron|RGL2_uc003odw.2_Missense_Mutation_p.D124N|RGL2_uc011drb.1_Missense_Mutation_p.D124N NM_004761 NP_004752 O15211 RGL2_HUMAN ral guanine nucleotide dissociation 206 N-terminal Ras-GEF. Ras protein signal transduction|regulation of small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity skin(3)|lung(1)|breast(1)|pancreas(1) 6 CGGATGAGGTCAGCGCTGCCC 0.652 NA 11 282 0 0 0.00245 0 0 FGD2 221472 broad.mit.edu 37 6 36993601 36993601 + Missense_Mutation SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr6:36993601G>A uc010jwp.1 + 14 1663 c.1492G>A c.(1492-1494)GAA>AAA p.E498K FGD2_uc003ong.2_Missense_Mutation_p.E220K|FGD2_uc011dtv.1_Missense_Mutation_p.E126K|FGD2_uc003onj.1_Missense_Mutation_p.E75K NM_173558 NP_775829 Q7Z6J4 FGD2_HUMAN FYVE, RhoGEF and PH domain containing 2 498 FYVE-type. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding upper_aerodigestive_tract(1)|lung(1)|pancreas(1) 3 CTACCGGGCCGAACTGAAATA 0.622 NA 5 73 0 0 0.000602 0 0 TTBK1 84630 broad.mit.edu 37 6 43251404 43251404 + Nonsense_Mutation SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr6:43251404C>T uc003ouq.1 + 14 3205 c.2926C>T c.(2926-2928)CGA>TGA p.R976* NM_032538 NP_115927 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 976 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 9 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) GGAGGGGGCCCGAGCGCCCCT 0.687 NA 28 34 0 0 0.007291 0 0 GSTA3 2940 broad.mit.edu 37 6 52764737 52764737 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr6:52764737C>G uc003pbb.2 - 5 488 c.409G>C c.(409-411)GAA>CAA p.E137Q GSTA3_uc010jzq.2_Missense_Mutation_p.E81Q NM_000847 NP_000838 Q16772 GSTA3_HUMAN glutathione S-transferase alpha 3 137 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity 0 Lung NSC(77;0.0912) Glutathione(DB00143) CCTACTTTTTCGAAGGCAGGG 0.448 NA 8 450 0 0 0.00308 0 0 MYO6 4646 broad.mit.edu 37 6 76551060 76551060 + Missense_Mutation SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr6:76551060G>A uc003pih.1 + 9 1060 c.781G>A c.(781-783)GAA>AAA p.E261K MYO6_uc003pig.1_Missense_Mutation_p.E261K|MYO6_uc003pii.1_Missense_Mutation_p.E261K NM_004999 NP_004990 Q9UM54 MYO6_HUMAN myosin VI 261 Myosin head-like. actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding kidney(1)|pancreas(1) 2 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) AGATATTAGAGAAAAACTTCA 0.274 NA 5 60 0 0 0.000602 0 0 IMPG1 3617 broad.mit.edu 37 6 76660781 76660781 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr6:76660781G>C uc003pik.1 - 13 1452 c.1322C>G c.(1321-1323)TCT>TGT p.S441C NM_001563 NP_001554 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 441 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) CAGGGAGGTAGAGGCCATAGC 0.438 Pancreas(37;839 1141 2599 26037) NA 4 101 0 0 0.009096 0 0 AIM1 202 broad.mit.edu 37 6 106968226 106968226 + Missense_Mutation SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr6:106968226G>A uc003prh.2 + 2 2406 c.1919G>A c.(1918-1920)AGA>AAA p.R640K NM_001624 NP_001615 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 640 sugar binding breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 9 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) CAGGGCAGCAGAACACCCCTG 0.532 NA 8 90 0 0 0.00308 0 0 REV3L 5980 broad.mit.edu 37 6 111695225 111695225 + Nonsense_Mutation SNP C C A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr6:111695225C>A uc003puy.3 - 13 4656 c.4333G>T c.(4333-4335)GGA>TGA p.G1445* REV3L_uc003pux.3_Nonsense_Mutation_p.G1367*|REV3L_uc003puz.3_Nonsense_Mutation_p.G1367* NM_002912 NP_002903 O60673 DPOLZ_HUMAN DNA polymerase zeta 1445 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding large_intestine(2)|ovary(2)|skin(2) 6 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) GCTGTATTTCCCGGAGAACAA 0.428 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 56 133 6.3091e-27 7.81864e-27 0.01441 1 0 VGLL2 245806 broad.mit.edu 37 6 117589584 117589584 + Silent SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr6:117589584G>A uc003pxn.2 + 2 511 c.321G>A c.(319-321)CTG>CTA p.L107L VGLL2_uc003pxo.2_Silent_p.L107L NM_182645 NP_872586 Q8N8G2 VGLL2_HUMAN vestigial-like 2 isoform 1 107 transcription, DNA-dependent nucleus central_nervous_system(1) 1 GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757) GCAGGGCCCTGAGCCAACCCA 0.597 NA 6 47 0 0 0.001984 0 0 MCM9 254394 broad.mit.edu 37 6 119245037 119245037 + Nonsense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr6:119245037G>C uc003pyh.2 - 3 823 c.560C>G c.(559-561)TCA>TGA p.S187* NM_153255 NP_694987 Q9NXL9 MCM9_HUMAN minichromosome maintenance complex component 9 187 DNA replication ATP binding|DNA binding|nucleoside-triphosphatase activity ovary(1) 1 all_cancers(87;0.122)|all_epithelial(87;0.179) GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194) AGACAAGCCTGAGAGGCAAGT 0.418 NA 3 115 0 0 0.004672 0 0 VIP 7432 broad.mit.edu 37 6 153076459 153076459 + Nonsense_Mutation SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr6:153076459C>T uc003qpe.2 + 4 458 c.286C>T c.(286-288)CAA>TAA p.Q96* VIP_uc003qpf.2_Nonsense_Mutation_p.Q96*|VIP_uc010kjd.2_Nonsense_Mutation_p.Q96* NM_003381 NP_003372 P01282 VIP_HUMAN vasoactive intestinal peptide isoform 1 96 QL -> PP (in Ref. 8; AAA61286). body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation extracellular region neuropeptide hormone activity 0 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144) ACTCTTGGGTCAACTTTCTGC 0.318 NA 6 53 0 0 0.004482 0 0 FBXO5 26271 broad.mit.edu 37 6 153296529 153296529 + Missense_Mutation SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr6:153296529C>T uc003qpg.2 - 2 440 c.331G>A c.(331-333)GAA>AAA p.E111K FBXO5_uc003qph.2_Missense_Mutation_p.E65K NM_012177 NP_036309 Q9UKT4 FBX5_HUMAN F-box only protein 5 isoform a 111 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) CGCTTGCTTTCAGTTTCAAGT 0.383 NSCLC(121;372 1757 17721 17977 29669) NA 15 104 0 0 0.004007 0 0 SYNJ2 8871 broad.mit.edu 37 6 158487540 158487540 + Silent SNP C C A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr6:158487540C>A uc003qqx.1 + 12 1665 c.1590C>A c.(1588-1590)ATC>ATA p.I530I SYNJ2_uc011efm.1_RNA|SYNJ2_uc003qqw.1_Silent_p.I530I|SYNJ2_uc003qqy.1_Silent_p.I243I|SYNJ2_uc011efn.1_Silent_p.I458I|SYNJ2_uc010kjo.1_Silent_p.I479I|SYNJ2_uc003qqz.1_Silent_p.I147I NM_003898 NP_003889 O15056 SYNJ2_HUMAN synaptojanin 2 530 Catalytic (By similarity). nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) TCAAGCGGATCCGGATTGCTA 0.547 NA 13 153 9.05144e-12 1.08189e-11 0.001855 1 0 MAP3K4 4216 broad.mit.edu 37 6 161470151 161470151 + Missense_Mutation SNP T T G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr6:161470151T>G uc003qtn.2 + 3 989 c.847T>G c.(847-849)TTT>GTT p.F283V MAP3K4_uc010kkc.1_Missense_Mutation_p.F283V|MAP3K4_uc003qto.2_Missense_Mutation_p.F283V|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_5'UTR NM_005922 NP_005913 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 283 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding ovary(3)|lung(3)|skin(2)|stomach(1) 9 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) CCAGGACTTCTTTTTATATAC 0.433 NA 7 76 0 0 0.004482 0 0 DNAH11 8701 broad.mit.edu 37 7 21923947 21923947 + Silent SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr7:21923947C>T uc003svc.2 + 77 12478 c.12447C>T c.(12445-12447)ATC>ATT p.I4149I NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 4149 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 TTGGTGAGATCATGTATGGAG 0.448 NA Kartagener_syndrome 11 74 0 0 0.013537 0 0 AOAH 313 broad.mit.edu 37 7 36656065 36656065 + Missense_Mutation SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr7:36656065C>T uc003tfh.3 - 11 1168 c.767G>A c.(766-768)GGA>GAA p.G256E AOAH_uc010kxf.2_Missense_Mutation_p.G256E|AOAH_uc011kba.1_Missense_Mutation_p.G224E NM_001637 NP_001628 P28039 AOAH_HUMAN acyloxyacyl hydrolase precursor 256 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity skin(1) 1 CAAAATGATTCCCCTGGGCTG 0.448 NA 4 33 0 0 0.001168 0 0 C7orf36 57002 broad.mit.edu 37 7 39610115 39610115 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr7:39610115G>C uc003thc.3 + 2 149 c.140G>C c.(139-141)AGA>ACA p.R47T NM_020192 NP_064577 Q9NRH1 CG036_HUMAN hypothetical protein LOC57002 47 0 GAAGGTTATAGAGATGGAATA 0.368 NA 4 154 0 0 0.009096 0 0 CDK13 8621 broad.mit.edu 37 7 40134077 40134077 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr7:40134077C>G uc003thh.3 + 14 4319 c.4037C>G c.(4036-4038)TCT>TGT p.S1346C CDK13_uc003thi.3_Missense_Mutation_p.S1286C|CDK13_uc003thj.2_Missense_Mutation_p.S397C|CDK13_uc003thk.2_Missense_Mutation_p.S279C NM_003718 NP_003709 Q14004 CDK13_HUMAN cell division cycle 2-like 5 isoform 1 1346 alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(2)|skin(2)|ovary(1) 5 TCTTTCTCTTCTGCTCCTTAT 0.428 NA 4 139 0 0 0.000602 0 0 DYNC1I1 1780 broad.mit.edu 37 7 95614143 95614143 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr7:95614143G>C uc003uoc.3 + 8 925 c.648G>C c.(646-648)TTG>TTC p.L216F DYNC1I1_uc003uod.3_Missense_Mutation_p.L199F|DYNC1I1_uc003uob.2_Missense_Mutation_p.L179F|DYNC1I1_uc003uoe.3_Missense_Mutation_p.L196F|DYNC1I1_uc010lfl.2_Missense_Mutation_p.L205F NM_004411 NP_004402 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 216 vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity ovary(3)|kidney(1) 4 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) CAAGAGAGTTGACAGAGGAAG 0.368 NA 40 67 0 0 0.009718 0 0 MUC17 140453 broad.mit.edu 37 7 100683576 100683576 + Missense_Mutation SNP C C A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr7:100683576C>A uc003uxp.1 + 3 8932 c.8879C>A c.(8878-8880)ACC>AAC p.T2960N MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2960 Extracellular (Potential).|Ser-rich.|48.|59 X approximate tandem repeats. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) ACACCTGTCACCACTTCTGCT 0.483 NA 131 236 8.93811e-64 1.13197e-63 0.01441 1 0 NUP205 23165 broad.mit.edu 37 7 135310104 135310104 + Splice_Site SNP G G T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr7:135310104G>T uc003vsw.2 + 32 4702 c.4671_splice c.e32+1 p.M1557_splice NUP205_uc003vsx.2_Splice_Site NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 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 ATCTAAAATGGTAAGGCTTTC 0.368 NA 46 73 9.52127e-25 1.17633e-24 0.01441 1 0 GSTK1 373156 broad.mit.edu 37 7 142960620 142960620 + Missense_Mutation SNP C C A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr7:142960620C>A uc003wci.2 + 1 99 c.14C>A c.(13-15)CCG>CAG p.P5Q GSTK1_uc011ksy.1_Missense_Mutation_p.P5Q|GSTK1_uc003wcj.2_Missense_Mutation_p.P5Q|GSTK1_uc011ksz.1_Missense_Mutation_p.P5Q NM_015917 NP_057001 Q9Y2Q3 GSTK1_HUMAN glutathione S-transferase kappa 1 isoform a 5 outer membrane-bounded periplasmic space|peroxisome glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity 0 Melanoma(164;0.059) Glutathione(DB00143) GGGCCCCTGCCGCGCACCGTG 0.677 NA 6 133 8.12818e-05 9.32894e-05 0.001984 1 0 SLC4A2 6522 broad.mit.edu 37 7 150773144 150773144 + Silent SNP C C G rs150666646 TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr7:150773144C>G uc003wit.3 + 22 3772 c.3516C>G c.(3514-3516)CTC>CTG p.L1172L SLC4A2_uc011kve.1_Silent_p.L1163L|SLC4A2_uc003wiu.3_Silent_p.L1158L|SLC4A2_uc003wiv.3_Silent_p.L366L|uc011kvf.1_Missense_Mutation_p.E101Q NM_003040 NP_003031 P04920 B3A2_HUMAN solute carrier family 4, anion exchanger, member 1172 Membrane (anion exchange).|Helical; (Potential). 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) TGCAGCTGCTCTGCCTGGCCC 0.667 NA 4 102 0 0 0.009096 0 0 PTPRN2 5799 broad.mit.edu 37 7 157387990 157387990 + Silent SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr7:157387990C>T uc003wno.2 - 17 2557 c.2436G>A c.(2434-2436)AGG>AGA p.R812R PTPRN2_uc003wnp.2_Silent_p.R795R|PTPRN2_uc003wnq.2_Silent_p.R783R|PTPRN2_uc003wnr.2_Silent_p.R774R|PTPRN2_uc011kwa.1_Silent_p.R835R NM_002847 NP_002838 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N 812 Cytoplasmic (Potential).|Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(4)|large_intestine(1)|pleura(1)|skin(1) 7 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) ACGCGGGGTTCCTCGGGTCGT 0.532 NA 6 91 0 0 0.001984 0 0 CLU 1191 broad.mit.edu 37 8 27462598 27462598 + Silent SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr8:27462598G>A uc003xfw.1 - 4 730 c.672C>T c.(670-672)CGC>CGT p.R224R CLU_uc010lux.1_Silent_p.R89R|CLU_uc003xfx.1_Silent_p.R224R|CLU_uc003xfy.1_Silent_p.R235R|CLU_uc003xfz.1_Silent_p.R276R NM_203339 NP_976084 P10909 CLUS_HUMAN clusterin isoform 2 224 R -> L (in Ref. 3; BAG36598). chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle misfolded protein binding|ubiquitin protein ligase binding ovary(2) 2 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132) TGCGGACGATGCGGGACTTGG 0.602 NA 24 82 0 0 0.005443 0 0 FNTA 2339 broad.mit.edu 37 8 42919285 42919285 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr8:42919285G>C uc003xps.2 + 3 376 c.328G>C c.(328-330)GAT>CAT p.D110H FNTA_uc003xpt.2_Missense_Mutation_p.D19H|FNTA_uc003xpu.2_Intron|FNTA_uc003xpv.2_RNA NM_002027 NP_002018 P49354 FNTA_HUMAN farnesyltransferase, CAAX box, alpha isoform a 110 cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway cytosol|microtubule associated complex alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity ovary(1) 1 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) CCTGCAGCGTGATGAAAGAAG 0.383 NA 6 239 0 0 0.001168 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70617448 70617448 + Silent SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr8:70617448G>A uc003xyl.2 - 6 2147 c.1440C>T c.(1438-1440)CCC>CCT p.P480P SLCO5A1_uc010lzb.2_Silent_p.P425P|SLCO5A1_uc011lfa.1_Intron|SLCO5A1_uc003xyk.2_Silent_p.P480P|SLCO5A1_uc010lzc.2_Silent_p.P425P NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 480 Helical; Name=8; (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|upper_aerodigestive_tract(1) 4 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) CACCAGCACTGGGGACGATAA 0.408 NA 4 85 0 0 0.009096 0 0 ZFHX4 79776 broad.mit.edu 37 8 77764427 77764427 + Missense_Mutation SNP C C A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr8:77764427C>A uc003yav.2 + 10 5522 c.5135C>A c.(5134-5136)CCA>CAA p.P1712Q ZFHX4_uc003yau.1_Missense_Mutation_p.P1757Q|ZFHX4_uc003yaw.1_Missense_Mutation_p.P1712Q NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1712 Gln-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TTGGGCTTGCCAGGCTCTGCC 0.512 NA HNSCC(33;0.089) 21 39 2.39556e-15 2.88898e-15 0.00278 1 0 FAM83H 286077 broad.mit.edu 37 8 144812586 144812586 + Missense_Mutation SNP A A C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr8:144812586A>C uc003yzk.2 - 2 236 c.167T>G c.(166-168)CTG>CGG p.L56R FAM83H_uc010mfk.1_5'Flank NM_198488 NP_940890 Q6ZRV2 FA83H_HUMAN FAM83H 56 biomineral tissue development lung(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) TTCAGGGCACAGGAAGTCTGG 0.617 NA 26 115 0 0 0.005443 0 0 FBXL6 26233 broad.mit.edu 37 8 145581359 145581359 + Silent SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr8:145581359G>A uc003zcb.2 - 2 529 c.504C>T c.(502-504)GGC>GGT p.G168G C8ORFK29_uc011llb.1_5'Flank|C8ORFK29_uc010mfw.2_5'Flank|C8ORFK29_uc003zby.3_5'Flank|FBXL6_uc003zbz.2_5'UTR|FBXL6_uc003zca.2_Silent_p.G168G|FBXL6_uc010mfx.2_5'UTR|GPR172A_uc003zcc.1_5'Flank|GPR172A_uc003zcd.1_5'Flank|GPR172A_uc003zce.1_5'Flank|GPR172A_uc010mfy.1_5'Flank|GPR172A_uc003zcf.1_5'Flank|GPR172A_uc011llc.1_5'Flank NM_012162 NP_036294 Q8N531 FBXL6_HUMAN F-box and leucine-rich repeat protein 6 isoform 168 proteolysis ubiquitin-protein ligase activity ovary(1)|lung(1) 2 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) TGGCAGGCCGGCCGACCAGCG 0.687 NA 10 50 0 0 0.010729 0 0 RPL8 6132 broad.mit.edu 37 8 146015223 146015223 + Missense_Mutation SNP C C A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr8:146015223C>A uc003zeb.2 - 6 851 c.740G>T c.(739-741)CGG>CTG p.R247L RPL8_uc003zdz.2_RNA|RPL8_uc003zea.2_Missense_Mutation_p.R211L|RPL8_uc003zec.2_Missense_Mutation_p.R247L NM_033301 NP_150644 P62917 RL8_HUMAN ribosomal protein L8 247 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit rRNA binding|structural constituent of ribosome 0 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.191) CTTGGTTCCCCGGAGACGTCC 0.587 NA 10 593 0.00829132 0.00935668 0.008291 1 0 PSIP1 11168 broad.mit.edu 37 9 15486913 15486913 + Nonsense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr9:15486913G>C uc003zlv.3 - 5 635 c.305C>G c.(304-306)TCA>TGA p.S102* PSIP1_uc003zlw.3_Nonsense_Mutation_p.S102*|PSIP1_uc003zlz.3_Nonsense_Mutation_p.S102*|PSIP1_uc003zma.3_Nonsense_Mutation_p.S102*|PSIP1_uc003zly.2_Nonsense_Mutation_p.S102* NM_033222 NP_150091 O75475 PSIP1_HUMAN PC4 and SFRS1 interacting protein 1 isoform 2 102 initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity breast(1) 1 GBM - Glioblastoma multiforme(50;2.38e-06) TGATGCATTTGATTGTTTAGT 0.284 NA 18 82 0 0 0.006122 0 0 BNC2 54796 broad.mit.edu 37 9 16437286 16437286 + Silent SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr9:16437286C>T uc003zml.2 - 6 1046 c.906G>A c.(904-906)GAG>GAA p.E302E BNC2_uc011lmw.1_Silent_p.E207E|BNC2_uc003zmm.2_Silent_p.E260E|BNC2_uc003zmq.1_Silent_p.E316E|BNC2_uc003zmr.1_Silent_p.E339E|BNC2_uc003zmp.1_Silent_p.E330E|BNC2_uc010mij.1_Silent_p.E224E|BNC2_uc011lmv.1_Silent_p.E128E|BNC2_uc003zmo.1_Silent_p.E224E|BNC2_uc003zmj.2_Silent_p.E67E|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Silent_p.E67E|BNC2_uc003zmn.1_Silent_p.E67E NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN basonuclin 2 302 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(50;9.01e-08) GATTGCTGTTCTCTAAGTGAG 0.473 NA 12 195 0 0 0.00245 0 0 TOPORS 10210 broad.mit.edu 37 9 32543115 32543115 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr9:32543115C>G uc003zrb.2 - 3 1575 c.1408G>C c.(1408-1410)GAC>CAC p.D470H TOPORS_uc003zrc.2_Missense_Mutation_p.D403H NM_005802 NP_005793 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich 470 Interaction with p53/TP53.|Required for sumoylation and localization to discrete nuclear foci.|Interaction with SUMO1.|Interaction with TOP1. DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) TCATCACTGTCATTATTTAGG 0.408 NA 9 106 0 0 0.006214 0 0 UBAP1 51271 broad.mit.edu 37 9 34242054 34242054 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr9:34242054C>G uc003ztx.2 + 4 1266 c.1031C>G c.(1030-1032)TCT>TGT p.S344C UBAP1_uc010mka.1_Missense_Mutation_p.S380C|UBAP1_uc003zty.2_Missense_Mutation_p.S344C|UBAP1_uc011loi.1_Missense_Mutation_p.S380C|UBAP1_uc011loj.1_Missense_Mutation_p.S408C|KIF24_uc010mkb.2_Intron|UBAP1_uc003ztz.2_Missense_Mutation_p.S344C NM_016525 NP_057609 Q9NZ09 UBAP1_HUMAN ubiquitin associated protein 1 344 cytoplasm 0 LUSC - Lung squamous cell carcinoma(29;0.00272) CCTTCCCTCTCTGTTTTGTCT 0.507 NSCLC(109;1074 1634 14978 20375 39620) NA 5 158 0 0 0.001984 0 0 RUSC2 9853 broad.mit.edu 37 9 35561270 35561270 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr9:35561270G>C uc003zww.2 + 12 4697 c.4442G>C c.(4441-4443)GGA>GCA p.G1481A RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.G1481A NM_014806 NP_055621 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 1481 SH3. cytosol ovary(1) 1 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) GGGCGAGCTGGAGGAGACTGG 0.652 NA 3 49 0 0 0.004672 0 0 TLN1 7094 broad.mit.edu 37 9 35707217 35707217 + Missense_Mutation SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr9:35707217C>T uc003zxt.2 - 37 5161 c.4807G>A c.(4807-4809)GCC>ACC p.A1603T NM_006289 NP_006280 Q9Y490 TLN1_HUMAN talin 1 1603 Interaction with SYNM. axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding lung(7)|breast(3)|ovary(2)|central_nervous_system(1) 13 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) ATTGTCTTGGCAGAGATCACA 0.642 NA 34 26 0 0 0.006999 0 0 NPR2 4882 broad.mit.edu 37 9 35794089 35794089 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr9:35794089G>C uc003zyd.2 + 2 862 c.862G>C c.(862-864)GAG>CAG p.E288Q NPR2_uc010mlb.2_Missense_Mutation_p.E288Q NM_003995 NP_003986 P20594 ANPRB_HUMAN natriuretic peptide receptor B precursor 288 Extracellular (Potential). intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure integral to membrane|plasma membrane GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity ovary(2)|stomach(1) 3 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899) ggccctcagagaggcctttca 0.388 NA 3 40 0 0 0.004672 0 0 GNAQ 2776 broad.mit.edu 37 9 80430572 80430572 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr9:80430572C>G uc004akw.2 - 3 477 c.436G>C c.(436-438)GAT>CAT p.D146H GNAQ_uc011lso.1_5'UTR NM_002072 NP_002063 P50148 GNAQ_HUMAN guanine nucleotide binding protein (G protein), 146 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity eye(136)|skin(44)|meninges(11)|ovary(1)|kidney(1) 193 CGTCGTCTATCATAGCATTCC 0.388 NA Mis uveal melanoma 3 49 0 0 0.009096 0 0 TGFBR1 7046 broad.mit.edu 37 9 101908883 101908883 + Missense_Mutation SNP C C T TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr9:101908883C>T uc004azc.2 + 7 1323 c.1247C>T c.(1246-1248)TCC>TTC p.S416F TGFBR1_uc004azd.2_Missense_Mutation_p.S339F|TGFBR1_uc011lvc.1_Missense_Mutation_p.S347F NM_004612 NP_004603 P36897 TGFR1_HUMAN transforming growth factor, beta receptor I 416 Protein kinase.|Cytoplasmic (Potential). activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(62;0.0559) CGACGATGTTCCATTGGTGGT 0.373 NA 12 376 0 0 0.003163 0 0 PPP3R2 5535 broad.mit.edu 37 9 104357089 104357090 + Missense_Mutation DNP TC TC AT TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 TC TC - - TC TC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr9:104357089_104357090TC>AT uc004bbr.2 - 1 194_195 c.123_124GA>AT c.(121-126)CTGAGC>CTATGC p.S42C GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Intron NM_147180 NP_671709 Q96LZ3 CANB2_HUMAN protein phosphatase 3 regulatory subunit B, beta 39 EF-hand 1.|1. calcium ion binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(62;0.0527) Cyclosporine(DB00091) TCCTCCACGCTCAGAGACCCTG 0.55 NA 63 98 0 0 0.004672 0 0 OR13C8 138802 broad.mit.edu 37 9 107332060 107332060 + Silent SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr9:107332060G>C uc011lvo.1 + 1 612 c.612G>C c.(610-612)CTG>CTC p.L204L NM_001004483 NP_001004483 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, 204 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GGTCGAATCTGATTGTTCTGG 0.353 NA 6 204 0 0 0.001984 0 0 OR13C8 138802 broad.mit.edu 37 9 107332126 107332126 + Silent SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr9:107332126G>A uc011lvo.1 + 1 678 c.678G>A c.(676-678)CTG>CTA p.L226L NM_001004483 NP_001004483 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, 226 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CCACTATTCTGAGGATTCCTT 0.398 NA 7 142 0 0 0.001984 0 0 OR13C8 138802 broad.mit.edu 37 9 107332309 107332309 + Missense_Mutation SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr9:107332309G>A uc011lvo.1 + 1 861 c.861G>A c.(859-861)ATG>ATA p.M287I NM_001004483 NP_001004483 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, 287 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 ATGGAGTGATGACTCCCATGC 0.413 NA 7 100 0 0 0.00308 0 0 OR13C9 286362 broad.mit.edu 37 9 107379953 107379953 + Missense_Mutation SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr9:107379953G>A uc011lvr.1 - 1 533 c.533C>T c.(532-534)TCA>TTA p.S178L NM_001001956 NP_001001956 Q8NGT0 O13C9_HUMAN olfactory receptor, family 13, subfamily C, 178 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AATTTCACATGAGAAATGATT 0.438 NA 5 141 0 0 0.000602 0 0 EPB41L4B 54566 broad.mit.edu 37 9 112015721 112015721 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr9:112015721C>G uc004bdz.1 - 12 1574 c.1279G>C c.(1279-1281)GCA>CCA p.A427P EPB41L4B_uc004bea.2_Missense_Mutation_p.A427P NM_019114 NP_061987 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 427 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton ovary(1)|central_nervous_system(1)|skin(1) 3 AACACACAACCTTTGAACGTT 0.428 NA 18 111 0 0 0.008871 0 0 LMX1B 4010 broad.mit.edu 37 9 129453345 129453345 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr9:129453345C>G uc004bqj.2 + 3 538 c.488C>G c.(487-489)TCC>TGC p.S163C LMX1B_uc004bqi.2_Missense_Mutation_p.S163C|LMX1B_uc011maa.1_Missense_Mutation_p.S163C NM_002316 NP_002307 O60663 LMX1B_HUMAN LIM homeobox transcription factor 1, beta 163 dorsal/ventral pattern formation|in utero embryonic development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GAGTCCGACTCCGGTGAGGCC 0.667 Pancreas(110;1796 2278 18357 20466) NA Nail-Patella_Syndrome 4 23 0 0 0.009096 0 0 NOTCH1 4851 broad.mit.edu 37 9 139400074 139400074 + Missense_Mutation SNP C C A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr9:139400074C>A uc004chz.2 - 25 4274 c.4274G>T c.(4273-4275)TGC>TTC p.C1425F NOTCH1_uc004cia.1_Missense_Mutation_p.C655F NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 1425 Extracellular (Potential).|EGF-like 36. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CAGGATGTGGCACAAGAGCCC 0.682 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 9 21 1.58986e-06 1.85102e-06 0.008291 1 0 PHKA2 5256 broad.mit.edu 37 X 18924680 18924680 + Silent SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chrX:18924680C>G uc004cyv.3 - 25 3169 c.2739G>C c.(2737-2739)CTG>CTC p.L913L PHKA2_uc004cyu.3_Silent_p.L211L|PHKA2_uc010nfe.1_5'Flank|PHKA2_uc010nff.1_5'Flank NM_000292 NP_000283 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 913 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(1)|central_nervous_system(1) 2 Hepatocellular(33;0.183) TCCGGAGTCTCAGCATCTCCA 0.587 NA 3 91 0 0 0.004672 0 0 CXorf22 170063 broad.mit.edu 37 X 35988982 35988982 + Missense_Mutation SNP T T C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chrX:35988982T>C uc004ddj.2 + 11 1971 c.1912T>C c.(1912-1914)TAT>CAT p.Y638H CXorf22_uc010ngv.2_RNA NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN hypothetical protein LOC170063 638 large_intestine(1)|lung(1)|ovary(1) 3 TGAAAACTATTATGCAATGTA 0.318 NA 9 2 0 0 0.010729 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125299513 125299513 + Missense_Mutation SNP C C A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chrX:125299513C>A uc004euk.1 - 1 422 c.395G>T c.(394-396)CGC>CTC p.R132L NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 132 lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 GAGGGGGATGCGCGTGATGTG 0.637 NA 4 90 0.00116845 0.00132227 0.001168 1 0 DCAF12L1 139170 broad.mit.edu 37 X 125685236 125685236 + Silent SNP T T G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chrX:125685236T>G uc004eul.2 - 1 1607 c.1356A>C c.(1354-1356)GCA>GCC p.A452A NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 452 skin(3)|ovary(1) 4 CATGGAGGCCTGCAGGGAGAG 0.547 NA 4 65 0 0 0.000602 0 0 LDOC1 23641 broad.mit.edu 37 X 140270933 140270933 + Silent SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chrX:140270933G>A uc004fbj.2 - 1 378 c.274C>T c.(274-276)CTA>TTA p.L92L NM_012317 NP_036449 O95751 LDOC1_HUMAN leucine zipper, down-regulated in cancer 1 92 negative regulation of cell proliferation nucleus protein binding 0 Acute lymphoblastic leukemia(192;7.65e-05) AGGCTGATTAGGAATGCCACC 0.582 NA 4 109 0 0 0.001168 0 0 HCFC1 3054 broad.mit.edu 37 X 153223608 153223608 + Silent SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chrX:153223608G>A uc004fjp.2 - 11 2424 c.1896C>T c.(1894-1896)ATC>ATT p.I632I NM_005334 NP_005325 P51610 HCFC1_HUMAN host cell factor 1 632 Interaction with SIN3A. cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2) 2 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCACTGTGATGATAGGGCGGG 0.612 NA 7 30 0 0 0.008291 0 0 UTY 7404 broad.mit.edu 37 Y 15372253 15372253 + Nonsense_Mutation SNP G G A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chrY:15372253G>A uc004fsx.1 - 26 4756 c.3751C>T c.(3751-3753)CAG>TAG p.Q1251* UTY_uc004fsw.1_Nonsense_Mutation_p.Q914*|UTY_uc010nwx.1_Nonsense_Mutation_p.Q308* NM_007125 NP_009056 O14607 UTY_HUMAN tetratricopeptide repeat protein isoform 3 1251 chromatin modification nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 CTCAATGTCTGATATTGCTTC 0.363 Colon(103;1740 2135 40732 45171) NA 11 54 0 0 0.010729 0 0 SYT11 23208 broad.mit.edu 37 1 155851017 155851018 + Frame_Shift_Del DEL CG CG - TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 CG CG - - CG CG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr1:155851017_155851018delCG uc001fmg.2 + 4 1277_1278 c.1014_1015delCG c.(1012-1017)TACGGCfs p.Y338fs SYT11_uc010pgq.1_Frame_Shift_Del_p.Y31fs NM_152280 NP_689493 Q9BT88 SYT11_HUMAN synaptotagmin XI 338_339 C2 2.|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) ACGTCTACTACGGCAGAAAGCG 0.455 NA 10 765 --- --- --- --- NA NA NA NA NA NES 10763 broad.mit.edu 37 1 156646400 156646403 + Frame_Shift_Del DEL GCGG GCGG - TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 GCGG GCGG - - GCGG GCGG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr1:156646400_156646403delGCGG uc001fpq.2 - 1 787_790 c.654_657delCCGC c.(652-657)GCCCGCfs p.A218fs NM_006617 NP_006608 P48681 NEST_HUMAN nestin 218_219 Coil 2B.|Rod. 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) GGCGGCCCTCGCGGGCACCCTGCA 0.755 NA 6 12 --- --- --- --- NA NA NA NA NA POLR2C 5432 broad.mit.edu 37 16 57503120 57503121 + Frame_Shift_Ins INS - - A TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr16:57503120_57503121insA uc002elt.1 + 5 388_389 c.302_303insA c.(301-303)TTCfs p.F101fs POLR2C_uc010vhq.1_Frame_Shift_Ins_p.F101fs NM_032940 NP_116558 P19387 RPB3_HUMAN DNA directed RNA polymerase II polypeptide C 101 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity 0 TCGGTGGAGTTCACCCTCGATG 0.589 NA 42 104 --- --- --- --- NA NA NA NA NA DOT1L 84444 broad.mit.edu 37 19 2210737 2210737 + Frame_Shift_Del DEL G G - TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr19:2210737delG uc002lvb.3 + 14 1270 c.1234delG c.(1234-1236)GGGfs p.G412fs DOT1L_uc002lvc.1_5'Flank NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN DOT1-like, histone H3 methyltransferase 412 Required for interaction with nucleosomes and DNA. nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 4 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) CCGCAAGCGCGGGCGCCCCAA 0.607 NA 16 113 --- --- --- --- NA NA NA NA NA SIGLEC5 8778 broad.mit.edu 37 19 52130914 52130914 + Frame_Shift_Del DEL G G - TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr19:52130914delG uc002pxe.2 - 6 1222 c.1083delC c.(1081-1083)CCCfs p.P361fs NM_003830 NP_003821 O15389 SIGL5_HUMAN sialic acid binding Ig-like lectin 5 precursor 361 Extracellular (Potential). cell adhesion integral to membrane sugar binding skin(2)|breast(1)|central_nervous_system(1) 4 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) AGCACAGGGAGGGGGCCGGCC 0.677 NA 10 15 --- --- --- --- NA NA NA NA NA SH3D19 152503 broad.mit.edu 37 4 152096011 152096011 + Frame_Shift_Del DEL G G - TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ac132c3-4889-4dc3-8b3d-0ef98065a858 ee2aab05-2f1d-406d-834c-f1b011b7b6eb g.chr4:152096011delG uc010ipl.1 - 7 1595 c.505delC c.(505-507)CGAfs p.R169fs SH3D19_uc003imc.2_Frame_Shift_Del_p.R169fs|SH3D19_uc003ime.2_Frame_Shift_Del_p.R169fs|SH3D19_uc010ipm.2_Frame_Shift_Del_p.R169fs NM_001009555 NP_001009555 Q5HYK7 SH319_HUMAN SH3 domain containing 19 isoform a 169 Pro-rich. 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) CCTGCGAGTCGGGGAGGAACA 0.582 NA 179 321 --- --- --- --- NA NA NA NA NA