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 GPX7 2882 broad.mit.edu 37 1 53072531 53072531 + Missense_Mutation SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr1:53072531G>A uc001cue.2 + 2 353 c.314G>A c.(313-315)CGC>CAC p.R105H NM_015696 NP_056511 Q96SL4 GPX7_HUMAN glutathione peroxidase 7 precursor 105 response to oxidative stress extracellular region glutathione peroxidase activity 0 Glutathione(DB00143) AGCTTTGCCCGCCGCACCTAC 0.572 NA 7 102 0 0 0.001984 0 0 HSD3B1 3283 broad.mit.edu 37 1 120056843 120056843 + Missense_Mutation SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr1:120056843C>T uc001ehv.1 + 4 842 c.697C>T c.(697-699)CAC>TAC p.H233Y HSD3B1_uc001ehw.2_Missense_Mutation_p.H235Y NM_000862 NP_000853 P14060 3BHS1_HUMAN 3 beta-hydroxysteroid dehydrogenase 1 233 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity ovary(2) 2 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) GGCCTGGGCCCACATTCTGGC 0.517 NA 32 53 0 0 0.003271 0 0 CRABP2 1382 broad.mit.edu 37 1 156670345 156670345 + Missense_Mutation SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr1:156670345C>T uc001fpr.2 - 3 492 c.355G>A c.(355-357)GAA>AAA p.E119K NM_001878 NP_001869 P29373 RABP2_HUMAN cellular retinoic acid binding protein 2 119 epidermis development|regulation of transcription, DNA-dependent|signal transduction cytoplasm|nucleus retinal binding|retinol binding|transporter activity upper_aerodigestive_tract(1) 1 all_hematologic(923;0.088)|Hepatocellular(266;0.158) Alitretinoin(DB00523) AGGATCAGTTCCCCATCGTTG 0.537 NA 21 108 0 0 0.00333 0 0 DUSP27 92235 broad.mit.edu 37 1 167095768 167095768 + Missense_Mutation SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr1:167095768G>A uc001geb.1 + 5 1400 c.1400G>A c.(1399-1401)CGC>CAC p.R467H NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 467 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 AGGAGGCGCCGCGCAGACTCG 0.652 NA 4 26 0 0 0.000248 0 0 ADCY10 55811 broad.mit.edu 37 1 167798655 167798655 + Missense_Mutation SNP C C G TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr1:167798655C>G uc001ger.2 - 26 3898 c.3600G>C c.(3598-3600)AAG>AAC p.K1200N ADCY10_uc009wvj.2_RNA|ADCY10_uc009wvk.2_Missense_Mutation_p.K1108N|ADCY10_uc010plj.1_Missense_Mutation_p.K1047N NM_018417 NP_060887 Q96PN6 ADCYA_HUMAN adenylate cyclase 10 1200 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding central_nervous_system(2)|ovary(1) 3 GTGCCAGCCTCTTCTTCCTAT 0.428 NA 13 71 0 0 0.00245 0 0 F5 2153 broad.mit.edu 37 1 169510388 169510388 + Missense_Mutation SNP G G T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr1:169510388G>T uc001ggg.1 - 13 4085 c.3940C>A c.(3940-3942)CCA>ACA p.P1314T NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 1314 B.|2-15.|35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) CCGAGGGCTGGGGAAAGGTTT 0.493 NA 125 632 2.51135e-46 6.49997e-46 0.00361 1 0 NAV1 89796 broad.mit.edu 37 1 201751334 201751334 + Missense_Mutation SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr1:201751334G>A uc001gwu.2 + 6 2041 c.1694G>A c.(1693-1695)GGT>GAT p.G565D NAV1_uc001gwv.1_Missense_Mutation_p.G73D|NAV1_uc001gww.1_Missense_Mutation_p.G174D|NAV1_uc001gwx.2_Missense_Mutation_p.G174D|NAV1_uc001gwy.1_5'UTR NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN neuron navigator 1 565 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(3)|ovary(1) 4 ACAGACAAGGGTAAGCTTGCA 0.527 NA 28 159 0 0 0.001786 0 0 REN 5972 broad.mit.edu 37 1 204128652 204128652 + Silent SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr1:204128652G>A uc001haq.2 - 5 608 c.564C>T c.(562-564)GCC>GCT p.A188A NM_000537 NP_000528 P00797 RENI_HUMAN renin preproprotein 188 angiotensin maturation|regulation of MAPKKK cascade extracellular space|membrane aspartic-type endopeptidase activity skin(3)|central_nervous_system(1) 4 all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) Aliskiren(DB01258)|Remikiren(DB00212) CATCAAACTCGGCCAGCATGA 0.557 NA 10 63 0 0 0.000443 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204419113 204419113 + Missense_Mutation SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr1:204419113G>A uc001haw.2 - 14 2578 c.2099C>T c.(2098-2100)CCT>CTT p.P700L PIK3C2B_uc010pqv.1_Missense_Mutation_p.P700L NM_002646 NP_002637 O00750 P3C2B_HUMAN phosphoinositide-3-kinase, class 2 beta 700 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1) 7 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) TGTCTCCCGAGGCAGCCGGTT 0.617 NA 7 6 0 0 0.001984 0 0 UPF2 26019 broad.mit.edu 37 10 11985140 11985140 + Missense_Mutation SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr10:11985140C>T uc001ila.2 - 16 3676 c.3202G>A c.(3202-3204)GGA>AGA p.G1068R UPF2_uc001ilb.2_Missense_Mutation_p.G1068R|UPF2_uc001ilc.2_Missense_Mutation_p.G1068R NM_080599 NP_542166 Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog 1068 Glu-rich.|Sufficient for interaction with EIF4A1 and EIF1. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding central_nervous_system(2)|ovary(1) 3 Renal(717;0.228) TCTTCTTCTCCCTCATCATCA 0.328 NA 17 113 0 0 0.006122 0 0 AGAP5 729092 broad.mit.edu 37 10 75457292 75457292 + Missense_Mutation SNP T T A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr10:75457292T>A uc009xri.2 - 1 263 c.222A>T c.(220-222)GAA>GAT p.E74D AGAP5_uc001juu.3_Missense_Mutation_p.E35D NM_001144000 NP_001137472 A6NIR3 AGAP5_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH 74 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding 0 CCTCCTTACCTTCAGGCATCT 0.582 NA 7 134 0 0 0.00245 0 0 MKI67 4288 broad.mit.edu 37 10 129905598 129905598 + Silent SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr10:129905598G>A uc001lke.2 - 13 4701 c.4506C>T c.(4504-4506)GAC>GAT p.D1502D MKI67_uc001lkf.2_Silent_p.D1142D|MKI67_uc009yav.1_Silent_p.D1077D|MKI67_uc009yaw.1_Silent_p.D652D NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 1502 5.|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) TTGTTGGTGTGTCCACTGGGT 0.498 NA 105 268 0 0 0.00361 0 0 GPR123 84435 broad.mit.edu 37 10 134942303 134942303 + Missense_Mutation SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr10:134942303G>A uc001llx.3 + 7 1407 c.971G>A c.(970-972)CGC>CAC p.R324H GPR123_uc001llw.2_Missense_Mutation_p.R1043H NM_001083909 NP_001077378 Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 324 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) TGCCCGCCCCGCAAGGACGCC 0.726 NA 7 27 0 0 0.001984 0 0 OR4C16 219428 broad.mit.edu 37 11 55340039 55340039 + Missense_Mutation SNP G G T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr11:55340039G>T uc010rih.1 + 1 436 c.436G>T c.(436-438)GCC>TCC p.A146S NM_001004701 NP_001004701 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, 146 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_epithelial(135;0.0748) GATGGCTGTGGCCTGGGTGGG 0.498 NA 66 200 6.2918e-36 1.60953e-35 0.00361 1 0 GANAB 23193 broad.mit.edu 37 11 62397858 62397858 + Silent SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr11:62397858G>A uc001nub.2 - 12 1539 c.1506C>T c.(1504-1506)TGC>TGT p.C502C GANAB_uc001nua.2_Silent_p.C524C|GANAB_uc001nuc.2_Silent_p.C405C|GANAB_uc010rma.1_Silent_p.C410C|GANAB_uc010rmb.1_Silent_p.C388C NM_198334 NP_938148 Q14697 GANAB_HUMAN neutral alpha-glucosidase AB isoform 2 502 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 TACCTGGCCAGCACCAGCCCT 0.572 Melanoma(23;1005 1074 15747 18937) NA 3 43 0 0 0.004672 0 0 BCL9L 283149 broad.mit.edu 37 11 118770825 118770825 + Silent SNP T T C TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr11:118770825T>C uc001pug.2 - 7 4172 c.3207A>G c.(3205-3207)CTA>CTG p.L1069L BCL9L_uc009zal.2_Silent_p.L1064L NM_182557 NP_872363 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 1069 Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity ovary(1)|pancreas(1) 2 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) AAGTGAATGGTAGGCTGGGGT 0.642 NA 25 76 0 0 0.001061 0 0 FLT1 2321 broad.mit.edu 37 13 28964125 28964125 + Missense_Mutation SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr13:28964125G>A uc001usb.3 - 13 2062 c.1777C>T c.(1777-1779)CGG>TGG p.R593W FLT1_uc010aar.1_Missense_Mutation_p.R593W|FLT1_uc001usc.3_Missense_Mutation_p.R593W|FLT1_uc010aas.1_RNA|FLT1_uc010aat.1_Missense_Mutation_p.R76W NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 593 Ig-like C2-type 6.|Extracellular (Potential). cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) TTAACTGTCCGCAGTAAAATC 0.393 NA 5 116 0 0 0.000602 0 0 MYH6 4624 broad.mit.edu 37 14 23870001 23870001 + Missense_Mutation SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr14:23870001G>A uc001wjv.2 - 13 1394 c.1327C>T c.(1327-1329)CGC>TGC p.R443C MYH6_uc010akp.1_Missense_Mutation_p.R443C NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 443 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GCGTTGATGCGCGTCACCATC 0.577 NA 14 101 0 0 0.004007 0 0 AKAP6 9472 broad.mit.edu 37 14 33292074 33292074 + Silent SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr14:33292074G>A uc001wrq.2 + 13 5225 c.5055G>A c.(5053-5055)GCG>GCA p.A1685A NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 1685 Ser-rich. protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) AAGACTCAGCGGCATCTCTAA 0.433 Melanoma(49;821 1200 7288 13647 42351) NA 27 92 0 0 0.001786 0 0 SOCS4 122809 broad.mit.edu 37 14 55510343 55510343 + Missense_Mutation SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr14:55510343C>T uc001xbo.2 + 3 1149 c.584C>T c.(583-585)CCC>CTC p.P195L SOCS4_uc001xbp.2_Missense_Mutation_p.P195L NM_199421 NP_955453 Q8WXH5 SOCS4_HUMAN suppressor of cytokine signaling 4 195 intracellular signal transduction|negative regulation of signal transduction|regulation of growth ovary(1)|kidney(1) 2 AATGTTCAGCCCTGTGTCATA 0.398 NA 24 96 0 0 0.00333 0 0 PSMA3 5684 broad.mit.edu 37 14 58727695 58727695 + Missense_Mutation SNP A A G TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr14:58727695A>G uc001xdj.1 + 6 480 c.434A>G c.(433-435)GAC>GGC p.D145G C14orf37_uc010tro.1_Intron|PSMA3_uc001xdk.1_Missense_Mutation_p.D138G NM_002788 NP_002779 P25788 PSA3_HUMAN proteasome alpha 3 subunit isoform 1 145 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex protein binding|threonine-type endopeptidase activity 0 AGTGTGAATGACGGTGCGCAA 0.313 NA 3 99 0 0 0.004672 0 0 LTBP2 4053 broad.mit.edu 37 14 75017917 75017917 + Silent SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr14:75017917C>T uc001xqa.2 - 7 1923 c.1536G>A c.(1534-1536)CCG>CCA p.P512P NM_000428 NP_000419 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding 512 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding liver(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GCAGCCAGGGCGGGGGTCTGG 0.701 NA 9 22 0 0 0.004482 0 0 SNRPN 6638 broad.mit.edu 37 15 25221477 25221477 + Missense_Mutation SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr15:25221477C>T uc001ywp.1 + 9 1071 c.181C>T c.(181-183)CGT>TGT p.R61C SNRPN_uc001ywq.1_Missense_Mutation_p.R61C|SNRPN_uc001ywr.1_Missense_Mutation_p.R61C|SNRPN_uc001yws.1_Missense_Mutation_p.R61C|SNRPN_uc001ywt.1_Missense_Mutation_p.R61C|SNRPN_uc001ywv.1_Missense_Mutation_p.R64C|SNRPN_uc001yww.1_Missense_Mutation_p.R61C|SNRPN_uc001ywx.1_Missense_Mutation_p.R61C|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR NM_022807 NP_073718 P63162 RSMN_HUMAN small nuclear ribonucleoprotein polypeptide N 61 RNA splicing small nuclear ribonucleoprotein complex|spliceosomal complex identical protein binding|RNA binding ovary(1) 1 all_cancers(20;9.33e-22)|Breast(32;0.000625) all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125) GCAACCAGAGCGTGAAGAAAA 0.428 NA Prader-Willsyndrome 22 91 0 0 0.003954 0 0 CAPN3 825 broad.mit.edu 37 15 42695961 42695961 + Missense_Mutation SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr15:42695961G>A uc001zpn.1 + 14 2074 c.1768G>A c.(1768-1770)GTG>ATG p.V590M CAPN3_uc001zpk.1_Missense_Mutation_p.V363M|CAPN3_uc001zpl.1_Missense_Mutation_p.V503M|CAPN3_uc010udf.1_Missense_Mutation_p.V503M|CAPN3_uc010udg.1_Missense_Mutation_p.V455M|CAPN3_uc001zpo.1_Missense_Mutation_p.V590M|CAPN3_uc001zpp.1_Missense_Mutation_p.V542M|CAPN3_uc001zpq.1_Missense_Mutation_p.V78M|CAPN3_uc010bcv.1_5'Flank|CAPN3_uc001zpr.1_5'Flank|CAPN3_uc001zps.1_5'Flank|CAPN3_uc001zpt.1_5'Flank NM_000070 NP_000061 P20807 CAN3_HUMAN calpain 3 isoform a 590 Linker. muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity central_nervous_system(1) 1 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) TACCATCTCCGTGGATCGGCC 0.557 NA 8 155 0 0 0.00308 0 0 STRC 161497 broad.mit.edu 37 15 43893702 43893702 + Silent SNP A A G TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr15:43893702A>G uc001zsf.2 - 24 4671 c.4593T>C c.(4591-4593)CTT>CTC p.L1531L STRC_uc010bdl.2_Silent_p.L758L|STRC_uc001zse.2_Silent_p.L49L NM_153700 NP_714544 Q7RTU9 STRC_HUMAN stereocilin precursor 1531 sensory perception of sound cell surface 0 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) AGAGCCTACCAAGCTGCAGGA 0.468 NA 11 82 0 0 0.001855 0 0 STRC 161497 broad.mit.edu 37 15 43893725 43893725 + Missense_Mutation SNP G G C rs147990592 TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr15:43893725G>C uc001zsf.2 - 24 4648 c.4570C>G c.(4570-4572)CGT>GGT p.R1524G STRC_uc010bdl.2_Missense_Mutation_p.R751G|STRC_uc001zse.2_Missense_Mutation_p.R42G NM_153700 NP_714544 Q7RTU9 STRC_HUMAN stereocilin precursor 1524 sensory perception of sound cell surface 0 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) TGCTCAGGACGAAATCCCCGG 0.398 NA 5 73 0 0 0.001984 0 0 DUOX1 53905 broad.mit.edu 37 15 45424180 45424180 + Missense_Mutation SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr15:45424180G>A uc001zus.1 + 3 362 c.16G>A c.(16-18)GCT>ACT p.A6T DUOXA1_uc001zup.2_5'Flank|DUOXA1_uc010bec.2_5'Flank|DUOXA1_uc001zur.1_5'Flank|DUOXA1_uc010bed.1_5'Flank|DUOX1_uc001zut.1_Missense_Mutation_p.A6T|DUOX1_uc010bee.1_5'UTR NM_017434 NP_059130 Q9NRD9 DUOX1_HUMAN dual oxidase 1 precursor 6 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity ovary(5)|skin(2)|breast(1) 8 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) CTTCTGCCTGGCTCTAGCATG 0.498 NA 10 254 0 0 0.000673 0 0 CA12 771 broad.mit.edu 37 15 63618490 63618490 + Silent SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr15:63618490G>A uc002amc.2 - 11 1215 c.1059C>T c.(1057-1059)CAC>CAT p.H353H CA12_uc002amd.2_Silent_p.H342H|CA12_uc002ame.2_Silent_p.H282H NM_001218 NP_001209 O43570 CAH12_HUMAN carbonic anhydrase XII isoform 1 precursor 353 Cytoplasmic (Potential). one-carbon metabolic process integral to membrane carbonate dehydratase activity|zinc ion binding ovary(1) 1 Acetazolamide(DB00819) GACCTCAAGCGTGGGCCTCAG 0.512 NA 24 94 0 0 0.001061 0 0 LOC595101 595101 broad.mit.edu 37 16 30292628 30292628 + Splice_Site SNP A A C TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr16:30292628A>C uc002dxp.1 - 15 c.2564_splice c.e15+1 NR_002453 Homo sapiens cDNA FLJ39663 fis, clone SMINT2007187. 0 AGTAATATTCACAGAAGATTT 0.323 NA 4 26 0 0 0.000248 0 0 PITPNM3 83394 broad.mit.edu 37 17 6364731 6364731 + Missense_Mutation SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr17:6364731G>A uc002gdd.3 - 18 2603 c.2452C>T c.(2452-2454)CGG>TGG p.R818W PITPNM3_uc010cln.2_Missense_Mutation_p.R782W|PITPNM3_uc010clm.2_Missense_Mutation_p.R301W|PITPNM3_uc002gdc.3_Missense_Mutation_p.R409W NM_031220 NP_112497 Q9BZ71 PITM3_HUMAN PITPNM family member 3 isoform 1 818 phosphatidylinositol metabolic process endomembrane system|integral to membrane calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding ovary(2)|central_nervous_system(2) 4 Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185) GCCTTCTGCCGCAGCGGGTCA 0.637 NA 25 53 0 0 0.005443 0 0 MYH8 4626 broad.mit.edu 37 17 10322033 10322033 + Missense_Mutation SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr17:10322033C>T uc002gmm.2 - 5 535 c.440G>A c.(439-441)GGC>GAC p.G147D uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 147 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 GCGCTTTTTGCCTCTGTAGGC 0.542 NA Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 4 141 0 0 0.000248 0 0 ZNF286A 57335 broad.mit.edu 37 17 15620341 15620341 + Missense_Mutation SNP G G C TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr17:15620341G>C uc010cot.2 + 6 1699 c.1303G>C c.(1303-1305)GAG>CAG p.E435Q ZNF286A_uc002goz.3_Missense_Mutation_p.E323Q|ZNF286A_uc010vwa.1_Missense_Mutation_p.E435Q|ZNF286A_uc002gpa.2_Missense_Mutation_p.E435Q NM_001130842 NP_001124314 Q9HBT8 Z286A_HUMAN zinc finger protein 286 435 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781) TCACACTGGAGAGAAACCCTA 0.388 NA 13 33 0 0 0.00499 0 0 CACNA1G 8913 broad.mit.edu 37 17 48696099 48696099 + Silent SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr17:48696099G>A uc002irk.1 + 33 5883 c.5511G>A c.(5509-5511)ACG>ACA p.T1837T CACNA1G_uc002irj.1_Silent_p.T1803T|CACNA1G_uc002irl.1_Silent_p.T1814T|CACNA1G_uc002irm.1_Silent_p.T1803T|CACNA1G_uc002irn.1_Silent_p.T1796T|CACNA1G_uc002iro.1_Silent_p.T1803T|CACNA1G_uc002irp.1_Silent_p.T1837T|CACNA1G_uc002irq.1_Silent_p.T1814T|CACNA1G_uc002irr.1_Silent_p.T1837T|CACNA1G_uc002irs.1_Silent_p.T1826T|CACNA1G_uc002irt.1_Silent_p.T1819T|CACNA1G_uc002irv.1_Silent_p.T1826T|CACNA1G_uc002irw.1_Silent_p.T1814T|CACNA1G_uc002iru.1_Silent_p.T1803T|CACNA1G_uc002irx.1_Silent_p.T1750T|CACNA1G_uc002iry.1_Silent_p.T1739T|CACNA1G_uc002irz.1_Silent_p.T1743T|CACNA1G_uc002isa.1_Silent_p.T1716T|CACNA1G_uc002isb.1_Silent_p.T1757T|CACNA1G_uc002isc.1_Silent_p.T1739T|CACNA1G_uc002isd.1_Silent_p.T1725T|CACNA1G_uc002ise.1_Silent_p.T1705T|CACNA1G_uc002isf.1_Silent_p.T1732T|CACNA1G_uc002isg.1_Silent_p.T1698T|CACNA1G_uc002ish.1_Silent_p.T1705T|CACNA1G_uc002isi.1_Silent_p.T1693T NM_018896 NP_061496 O43497 CAC1G_HUMAN voltage-dependent calcium channel alpha 1G 1837 IV.|Helical; Name=S6 of repeat IV; (Potential). axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(1) 1 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) TCGTGCTGACGGCCCAGTTCG 0.592 NA 8 46 0 0 0.004482 0 0 ST6GALNAC1 55808 broad.mit.edu 37 17 74625694 74625694 + Silent SNP T T A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr17:74625694T>A uc002jsh.2 - 2 405 c.231A>T c.(229-231)GCA>GCT p.A77A ST6GALNAC1_uc002jsi.2_5'UTR|ST6GALNAC1_uc002jsj.2_RNA NM_018414 NP_060884 Q9NSC7 SIA7A_HUMAN sialyltransferase 7A 77 Lumenal (Potential). protein glycosylation integral to Golgi membrane alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity 0 GCACTGGCTCTGCATAGATGG 0.572 NA 7 217 0 0 0.001984 0 0 CTAGE1 64693 broad.mit.edu 37 18 19996170 19996170 + Silent SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr18:19996170C>T uc002ktv.1 - 1 1709 c.1605G>A c.(1603-1605)CCG>CCA p.P535P NM_172241 NP_758441 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 535 integral to membrane ovary(1) 1 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) TCTGATGGTCCGGAGGATTCC 0.552 NA 4 115 0 0 0.000248 0 0 LONP1 9361 broad.mit.edu 37 19 5699098 5699098 + Missense_Mutation SNP C C A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr19:5699098C>A uc002mcx.2 - 10 1658 c.1625G>T c.(1624-1626)CGA>CTA p.R542L LONP1_uc002mcy.2_Missense_Mutation_p.R478L|LONP1_uc010duh.2_Missense_Mutation_p.R283L|LONP1_uc010dui.2_Missense_Mutation_p.R526L|LONP1_uc002mcz.2_Missense_Mutation_p.R346L NM_004793 NP_004784 P36776 LONM_HUMAN mitochondrial lon peptidase 1 precursor 542 cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding 0 GAAGTACTCTCGGTTCAGGGC 0.652 NA 12 39 1.5842e-08 3.916e-08 0.001855 1 0 ZNF506 440515 broad.mit.edu 37 19 19905881 19905881 + Missense_Mutation SNP A A G TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr19:19905881A>G uc010eci.2 - 4 963 c.815T>C c.(814-816)CTT>CCT p.L272P ZNF506_uc002nog.2_Intron|ZNF506_uc002noh.3_Missense_Mutation_p.L240P NM_001099269 NP_001092739 Q5JVG8 ZN506_HUMAN zinc finger protein 506 isoform 1 272 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding 0 ATGTGAAAAAAGGGTTGCAGG 0.373 NA 3 56 0 0 0.000248 0 0 ZNF208 7757 broad.mit.edu 37 19 22154452 22154452 + Silent SNP A A G TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr19:22154452A>G uc002nqp.2 - 6 3149 c.3000T>C c.(2998-3000)CTT>CTC p.L1000L ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) TATGTTTAGTAAGGATTGAGA 0.373 NA 3 107 0 0 0.004672 0 0 KLK3 354 broad.mit.edu 37 19 51361824 51361824 + Silent SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr19:51361824C>T uc002pts.1 + 4 644 c.603C>T c.(601-603)CGC>CGT p.R201R KLK3_uc010ycj.1_Silent_p.R160R|KLK3_uc002ptr.1_Silent_p.R158R|KLK3_uc010eof.1_RNA NM_001030047 NP_001025218 P07288 KLK3_HUMAN prostate specific antigen isoform 3 201 Peptidase S1. negative regulation of angiogenesis|proteolysis extracellular region serine-type endopeptidase activity upper_aerodigestive_tract(1)|ovary(1)|kidney(1) 3 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144) GTGCTGGACGCTGGACAGGGG 0.527 Colon(185;1767 2023 13025 30120 37630) NA 48 39 0 0 0.00361 0 0 AGBL5 60509 broad.mit.edu 37 2 27281274 27281274 + Nonsense_Mutation SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr2:27281274C>T uc002rie.2 + 10 1895 c.1678C>T c.(1678-1680)CGA>TGA p.R560* AGBL5_uc002rid.2_Nonsense_Mutation_p.R560*|AGBL5_uc002rif.2_RNA NM_021831 NP_068603 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 isoform 1 560 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACAGGTGGGACGAGCTATGGC 0.582 NA 16 33 0 0 0.006122 0 0 CLASP1 23332 broad.mit.edu 37 2 122139812 122139812 + Missense_Mutation SNP T T C TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr2:122139812T>C uc002tnc.2 - 32 3853 c.3463A>G c.(3463-3465)AAG>GAG p.K1155E CLASP1_uc010yyv.1_Intron|CLASP1_uc002tmz.2_Missense_Mutation_p.K240E|CLASP1_uc002tna.2_Intron|CLASP1_uc010yyw.1_Intron|CLASP1_uc002tnb.2_Intron|CLASP1_uc010yyx.1_Intron|CLASP1_uc010yyy.1_Intron|CLASP1_uc010yyz.1_Intron|CLASP1_uc010yza.1_Intron|CLASP1_uc010yzb.1_Intron|CLASP1_uc010yzc.1_Intron|CLASP1_uc002tnf.2_Intron NM_015282 NP_056097 Q7Z460 CLAP1_HUMAN CLIP-associating protein 1 isoform 1 1155 axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding ovary(1)|central_nervous_system(1) 2 Renal(3;0.0496) CTGAGAGCCTTGTGGGAGGGA 0.532 NA 4 11 0 0 0.000248 0 0 FRG1B 284802 broad.mit.edu 37 20 29614328 29614328 + Splice_Site SNP G G A rs137860963 by1000genomes TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr20:29614328G>A uc010ztk.1 + 1 67 c.-6_splice c.e1+1 FRG1B_uc002wvm.1_Splice_Site|FRG1B_uc010ztj.1_Splice_Site|FRG1B_uc010gdr.1_Splice_Site RecName: Full=Protein FRG1B; 0 TGATACGTTGGTGAGTCAGTT 0.219 NA 5 82 0 0 0.00308 0 0 FAM83C 128876 broad.mit.edu 37 20 33876276 33876276 + Missense_Mutation SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr20:33876276G>A uc010zux.1 - 3 912 c.794C>T c.(793-795)GCG>GTG p.A265V FAM83C_uc002xcb.1_Intron NM_178468 NP_848563 Q9BQN1 FA83C_HUMAN hypothetical protein LOC128876 265 ovary(2) 2 BRCA - Breast invasive adenocarcinoma(18;0.00252) GTAACTGCCCGCCACCACTTG 0.592 NA 19 41 0 0 0.001882 0 0 BLCAP 10904 broad.mit.edu 37 20 36147457 36147457 + Silent SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr20:36147457C>T uc002xha.2 - 2 323 c.120G>A c.(118-120)CGG>CGA p.R40R BLCAP_uc002xhb.2_Silent_p.R40R|BLCAP_uc002xhc.2_Silent_p.R40R|NNAT_uc002xhd.2_5'Flank|NNAT_uc002xhe.2_5'Flank NM_006698 NP_006689 P62952 BLCAP_HUMAN bladder cancer associated protein 40 apoptosis|cell cycle integral to membrane 0 Myeloproliferative disorder(115;0.00878) TGCAAGGCTTCCGTTCCAGGA 0.567 NA 5 28 0 0 0.000602 0 0 RFPL1 5988 broad.mit.edu 37 22 29837625 29837625 + Silent SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr22:29837625G>A uc003afn.2 + 2 677 c.468G>A c.(466-468)CGG>CGA p.R156R RFPL1S_uc003afm.1_RNA NM_021026 NP_066306 O75677 RFPL1_HUMAN ret finger protein-like 1 156 B30.2/SPRY. zinc ion binding 0 CACAGAATCGGCAAGACCTTG 0.557 NA 4 81 0 0 0.000602 0 0 TMPRSS6 164656 broad.mit.edu 37 22 37499438 37499438 + Missense_Mutation SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr22:37499438G>A uc003aqs.1 - 2 161 c.47C>T c.(46-48)CCC>CTC p.P16L TMPRSS6_uc003aqt.1_Missense_Mutation_p.P7L|TMPRSS6_uc003aqu.2_Missense_Mutation_p.P7L NM_153609 NP_705837 Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 16 Cytoplasmic (Potential). angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity p.P16fs*12(1) breast(4)|ovary(1)|skin(1) 6 AGCCACCTGGGGGGCCTCGGC 0.657 NA 27 93 0 0 0.001271 0 0 DHX30 22907 broad.mit.edu 37 3 47859533 47859533 + Missense_Mutation SNP G G A rs138729543 TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr3:47859533G>A uc003cru.2 + 4 476 c.50G>A c.(49-51)CGT>CAT p.R17H DHX30_uc003crs.2_5'UTR|DHX30_uc003crt.2_5'UTR NM_138615 NP_619520 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 30 17 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding ovary(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) cacaggcagcgtcagtgcaaa 0.164 NA 27 87 0 0 0.002445 0 0 PTPRG 5793 broad.mit.edu 37 3 62254711 62254711 + Missense_Mutation SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr3:62254711G>A uc003dlb.2 + 20 3595 c.2876G>A c.(2875-2877)CGA>CAA p.R959Q PTPRG_uc003dlc.2_Missense_Mutation_p.R930Q|PTPRG_uc011bfi.1_Missense_Mutation_p.R205Q|uc010hno.2_Intron|uc003dld.3_Intron|uc010hnp.2_Intron|uc003dle.3_Intron NM_002841 NP_002832 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 959 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(5)|lung(2) 7 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) TTTCTGCAGCGAAAATGTGAT 0.363 NA 5 50 0 0 0.001984 0 0 P2RY1 5028 broad.mit.edu 37 3 152553609 152553609 + Missense_Mutation SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr3:152553609C>T uc003ezq.2 + 1 874 c.38C>T c.(37-39)ACG>ATG p.T13M NM_002563 NP_002554 P47900 P2RY1_HUMAN purinergic receptor P2Y1 13 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) CCCAACGGGACGGACGCTGCC 0.692 NA 4 32 0 0 0.000248 0 0 SKIL 6498 broad.mit.edu 37 3 170078422 170078422 + Silent SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr3:170078422G>A uc003fgu.2 + 2 1015 c.303G>A c.(301-303)CTG>CTA p.L101L SKIL_uc011bps.1_Silent_p.L81L|SKIL_uc003fgv.2_Silent_p.L101L|SKIL_uc003fgw.2_Silent_p.L101L NM_005414 NP_005405 P12757 SKIL_HUMAN SKI-like isoform 1 101 cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development cytoplasm|PML body chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity ovary(2)|skin(1) 3 all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) AGAGCTCGCTGGGTGGACCAG 0.463 NA 59 214 0 0 0.00361 0 0 CHRD 8646 broad.mit.edu 37 3 184103862 184103862 + Missense_Mutation SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr3:184103862C>T uc003fov.2 + 15 2093 c.1847C>T c.(1846-1848)CCG>CTG p.P616L CHRD_uc003fow.2_Missense_Mutation_p.P246L|CHRD_uc003fox.2_Missense_Mutation_p.P616L|CHRD_uc003foy.2_Missense_Mutation_p.P246L|CHRD_uc010hyc.2_Missense_Mutation_p.P206L|CHRD_uc011brr.1_Missense_Mutation_p.P246L NM_003741 NP_003732 Q9H2X0 CHRD_HUMAN chordin precursor 616 CHRD 4. BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding skin(2)|ovary(1) 3 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GACCTGGAGCCGGAACTGCTG 0.502 NA 5 94 0 0 0.001168 0 0 NFKB1 4790 broad.mit.edu 37 4 103498166 103498166 + Missense_Mutation SNP G G C TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr4:103498166G>C uc011ceq.1 + 7 1005 c.538G>C c.(538-540)GCA>CCA p.A180P NFKB1_uc011cep.1_Missense_Mutation_p.A181P|NFKB1_uc011cer.1_5'Flank NM_003998 NP_003989 P19838 NFKB1_HUMAN nuclear factor kappa-B, subunit 1 isoform 1 180 RHD. anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(2)|breast(2)|skin(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.59e-08) Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041) CTATTTGCAAGCAGAAGGTGG 0.483 NA 29 72 0 0 0.001786 0 0 GALNT7 51809 broad.mit.edu 37 4 174213396 174213396 + Missense_Mutation SNP T T C TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr4:174213396T>C uc003isz.3 + 3 808 c.725T>C c.(724-726)ATT>ACT p.I242T GALNT7_uc011ckb.1_Missense_Mutation_p.I19T NM_017423 NP_059119 Q86SF2 GALT7_HUMAN polypeptide N-acetylgalactosaminyltransferase 7 242 Catalytic subdomain A.|Lumenal (Potential). protein O-linked glycosylation Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1) 1 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199) TTAGCAGAAATTGTGTTAATT 0.343 NA 15 36 0 0 0.003163 0 0 SLC12A7 10723 broad.mit.edu 37 5 1083938 1083938 + Missense_Mutation SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr5:1083938C>T uc003jbu.2 - 8 1117 c.1051G>A c.(1051-1053)GCC>ACC p.A351T NM_006598 NP_006589 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride 351 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity skin(2)|large_intestine(1)|ovary(1) 4 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) TCGTCACAGGCGGCGCTGGGC 0.647 NA 15 42 0 0 0.00245 0 0 OSMR 9180 broad.mit.edu 37 5 38885486 38885486 + Missense_Mutation SNP A A G TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr5:38885486A>G uc003jln.1 + 6 1106 c.739A>G c.(739-741)ACC>GCC p.T247A OSMR_uc003jlm.1_Missense_Mutation_p.T247A NM_003999 NP_003990 Q99650 OSMR_HUMAN oncostatin M receptor precursor 247 Extracellular (Potential). cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 all_lung(31;0.000365) TTCTTGTGAAACCGAGGACTT 0.428 NA 33 68 0 0 0.002445 0 0 SKIV2L2 23517 broad.mit.edu 37 5 54649009 54649009 + Missense_Mutation SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr5:54649009C>T uc003jpy.3 + 14 1711 c.1445C>T c.(1444-1446)ACG>ATG p.T482M SKIV2L2_uc011cqi.1_Missense_Mutation_p.T381M NM_015360 NP_056175 P42285 SK2L2_HUMAN superkiller viralicidic activity 2-like 2 482 Helicase C-terminal. maturation of 5.8S rRNA catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(1)|skin(1) 2 Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194) TTATTTGCCACGGAGACCTTT 0.318 Melanoma(2;92 134 23744 29976 33782) NA 8 157 0 0 0.000978 0 0 ERAP2 64167 broad.mit.edu 37 5 96253168 96253168 + Silent SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr5:96253168G>A uc003kmq.2 + 19 3452 c.2742G>A c.(2740-2742)GTG>GTA p.V914V uc003kmo.1_Intron|ERAP2_uc003kmt.2_Silent_p.V914V|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Silent_p.V863V|ERAP2_uc003kmu.2_RNA NM_022350 NP_071745 Q6P179 ERAP2_HUMAN endoplasmic reticulum aminopeptidase 2 914 Lumenal (Potential). antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding 0 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) TTTTACAGGTGAAACTATTTT 0.219 NA 25 48 0 0 0.003954 0 0 PCDHB15 56121 broad.mit.edu 37 5 140625383 140625383 + Silent SNP G G T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr5:140625383G>T uc003lje.2 + 1 237 c.237G>T c.(235-237)CTG>CTT p.L79L NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN protocadherin beta 15 precursor 79 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|breast(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGCTTGATCTGCAGACCGGGC 0.537 NA 19 41 1.33834e-09 3.34584e-09 0.000958 1 0 PCDHGB7 56099 broad.mit.edu 37 5 140798770 140798770 + Silent SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr5:140798770C>T uc003lkn.1 + 1 1489 c.1344C>T c.(1342-1344)AAC>AAT p.N448N PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Silent_p.N448N|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank NM_018927 NP_061750 Q9Y5F8 PCDGJ_HUMAN protocadherin gamma subfamily B, 7 isoform 1 448 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCAATGACAACGCGCCGGTTT 0.572 NA 14 28 0 0 0.001855 0 0 RBM27 54439 broad.mit.edu 37 5 145649137 145649137 + Missense_Mutation SNP C C A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr5:145649137C>A uc003lnz.3 + 17 2847 c.2681C>A c.(2680-2682)ACA>AAA p.T894K RBM27_uc003lny.2_Missense_Mutation_p.T839K NM_018989 NP_061862 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 894 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) AAAGTGAAGACAAAAACGGAG 0.209 NA 23 14 5.45024e-15 1.37822e-14 0.00333 1 0 DNAH8 1769 broad.mit.edu 37 6 38919259 38919259 + Silent SNP C C A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr6:38919259C>A uc003ooe.1 + 80 12363 c.11763C>A c.(11761-11763)ACC>ACA p.T3921T DNAH8_uc003oog.1_Silent_p.T370T|uc003oof.1_Intron NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 CTGACCCCACCAATCAAATTG 0.413 NA 18 492 2.94398e-08 7.1964e-08 0.000958 1 0 COL19A1 1310 broad.mit.edu 37 6 70637868 70637868 + Missense_Mutation SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr6:70637868G>A uc003pfc.1 + 5 451 c.334G>A c.(334-336)GCC>ACC p.A112T COL19A1_uc010kam.1_Missense_Mutation_p.A8T NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 112 TSP N-terminal. FRVRRNAKKERWFL -> ETTVPFWRFFVLET (in Ref. 6; AAA36358). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 ACGAAGAAACGCCAAAAAGGA 0.428 NA 35 63 0 0 0.002836 0 0 BCLAF1 9774 broad.mit.edu 37 6 136599486 136599486 + Missense_Mutation SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr6:136599486G>A uc003qgx.1 - 4 786 c.533C>T c.(532-534)CCG>CTG p.P178L BCLAF1_uc003qgw.1_Missense_Mutation_p.P178L|BCLAF1_uc003qgy.1_Missense_Mutation_p.P176L|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.P176L NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 178 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) ACTTTTCAACGGACTCTCTTC 0.418 Colon(142;1534 1789 5427 7063 28491) NA 30 257 0 0 0.001512 0 0 GARS 2617 broad.mit.edu 37 7 30639610 30639610 + Missense_Mutation SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr7:30639610G>A uc003tbm.2 + 3 729 c.372G>A c.(370-372)ATG>ATA p.M124I NM_002047 NP_002038 P41250 SYG_HUMAN glycyl-tRNA synthetase 124 cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation cytosol|mitochondrial matrix|soluble fraction ATP binding|glycine-tRNA ligase activity|protein dimerization activity ovary(1) 1 Glycine(DB00145) GAGCAAAAATGGAAGATACCC 0.408 NA 28 177 0 0 0.002445 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72657788 72657788 + Missense_Mutation SNP A A G TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr7:72657788A>G uc003txs.1 - 13 2124 c.1196T>C c.(1195-1197)CTA>CCA p.L399P FKBP6_uc003twz.2_Intron NR_002164 RecName: Full=General transcription factor II-I repeat domain-containing protein 2B; AltName: Full=GTF2I repeat domain-containing protein 2B; AltName: Full=Transcription factor GTF2IRD2-beta; 0 cagttttgctaggaacacccg 0 NA 60 306 0 0 0.00361 0 0 CNOT4 4850 broad.mit.edu 37 7 135048808 135048808 + Missense_Mutation SNP A A C TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr7:135048808A>C uc011kpy.1 - 10 1730 c.1638T>G c.(1636-1638)AGT>AGG p.S546R CNOT4_uc003vss.2_Intron|CNOT4_uc011kpz.1_Missense_Mutation_p.S543R|CNOT4_uc003vst.2_Intron NM_001008225 NP_001008226 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding 0 TCTCTACAGAACTGCTGTTGT 0.383 Ovarian(51;766 1130 5502 35047 50875) NA 12 270 0 0 0.001855 0 0 MKRN1 23608 broad.mit.edu 37 7 140154416 140154416 + Missense_Mutation SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr7:140154416C>T uc003vvt.2 - 8 1575 c.1350G>A c.(1348-1350)ATG>ATA p.M450I MKRN1_uc003vvs.2_Missense_Mutation_p.M386I|MKRN1_uc011krd.1_Missense_Mutation_p.M184I NM_013446 NP_038474 Q9UHC7 MKRN1_HUMAN makorin ring finger protein 1 isoform 1 450 ligase activity|nucleic acid binding|protein binding|zinc ion binding ovary(1) 1 Melanoma(164;0.00956) CAGCCAAAAGCATAAGCAACA 0.463 NA 19 77 0 0 0.001216 0 0 GTF2E2 2961 broad.mit.edu 37 8 30464636 30464636 + Missense_Mutation SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr8:30464636C>T uc003xig.2 - 6 834 c.581G>A c.(580-582)CGT>CAT p.R194H NM_002095 NP_002086 P29084 T2EB_HUMAN general transcription factor IIE, polypeptide 2, 194 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction transcription factor TFIIE complex DNA binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135) CTTATCGGGACGATTTACAAA 0.303 NA 23 91 0 0 0.004656 0 0 LYN 4067 broad.mit.edu 37 8 56910924 56910924 + Missense_Mutation SNP A A G TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr8:56910924A>G uc003xsk.3 + 11 1352 c.1070A>G c.(1069-1071)TAC>TGC p.Y357C LYN_uc003xsl.3_Missense_Mutation_p.Y336C NM_002350 NP_002341 P07948 LYN_HUMAN Yamaguchi sarcoma viral (v-yes-1) oncogene 357 Protein kinase. erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity ovary(1)|breast(1)|central_nervous_system(1) 3 all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772) Epithelial(17;0.000834)|all cancers(17;0.00598) GGAATGGCATACATCGAGCGG 0.458 NA 4 64 0 0 0.000248 0 0 VPS13B 157680 broad.mit.edu 37 8 100866351 100866351 + Silent SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr8:100866351C>T uc003yiv.2 + 56 10920 c.10809C>T c.(10807-10809)CTC>CTT p.L3603L VPS13B_uc003yiw.2_Silent_p.L3578L NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 3603 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) ACGCTTCCCTCAAGCTGTACA 0.547 Colon(161;2205 2542 7338 31318) NA 63 51 0 0 0.00361 0 0 KLHL9 55958 broad.mit.edu 37 9 21334730 21334730 + Silent SNP A A G TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr9:21334730A>G uc003zoy.2 - 1 700 c.129T>C c.(127-129)CTT>CTC p.L43L KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_RNA NM_018847 NP_061335 Q9P2J3 KLHL9_HUMAN kelch-like 9 43 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex|midbody ovary(3)|skin(1) 4 Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118) CTTCTATTCTAAGCTGATCAA 0.468 NA 42 48 0 0 0.001951 0 0 LOC442421 442421 broad.mit.edu 37 9 66499680 66499680 + Missense_Mutation SNP C C A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr9:66499680C>A uc004aee.1 + 1 490 c.490C>A c.(490-492)CCC>ACC p.P164T LOC442421_uc004aed.1_RNA Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134). 0 TCATGTTAACCCCTTCCCAGG 0.582 NA 5 43 1.23904e-05 2.93106e-05 0.000602 1 0 LOC442421 442421 broad.mit.edu 37 9 66499794 66499794 + Missense_Mutation SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr9:66499794C>T uc004aee.1 + 1 604 c.604C>T c.(604-606)CGC>TGC p.R202C LOC442421_uc004aed.1_RNA Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134). 0 GTGCAAGTCGCGCAAGGAGCA 0.587 NA 5 83 0 0 0.001855 0 0 OTUD5 55593 broad.mit.edu 37 X 48791832 48791832 + Missense_Mutation SNP C C A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chrX:48791832C>A uc004dlu.2 - 5 1040 c.979G>T c.(979-981)GTT>TTT p.V327F OTUD5_uc004dlt.3_Missense_Mutation_p.V322F|OTUD5_uc004dlv.2_Missense_Mutation_p.V322F|OTUD5_uc011mmp.1_Missense_Mutation_p.V105F NM_017602 NP_060072 Q96G74 OTUD5_HUMAN OTU domain containing 5 isoform a 327 OTU. negative regulation of type I interferon production cysteine-type peptidase activity pancreas(1) 1 TGGTAGCTAACACGAATGGGT 0.512 NA 5 85 0.000602214 0.00140944 0.000602 1 0 TAF1 6872 broad.mit.edu 37 X 70613945 70613945 + Missense_Mutation SNP A A G TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chrX:70613945A>G uc004dzu.3 + 22 3304 c.3253A>G c.(3253-3255)ACT>GCT p.T1085A BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.T1106A|TAF1_uc004dzv.3_Missense_Mutation_p.T259A NM_138923 NP_620278 P21675 TAF1_HUMAN TBP-associated factor 1 isoform 2 1085 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1) 17 Renal(35;0.156) all_lung(315;0.000321) AGTCTTATCAACTGACACAGA 0.383 NA 4 44 0 0 0.000248 0 0 POF1B 79983 broad.mit.edu 37 X 84634283 84634283 + Missense_Mutation SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chrX:84634283C>T uc004eer.2 - 2 323 c.177G>A c.(175-177)ATG>ATA p.M59I POF1B_uc004ees.2_Missense_Mutation_p.M59I NM_024921 NP_079197 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 59 actin binding 0 CCACCTTGTTCATGGGCCCAC 0.532 NA 4 47 0 0 0.000248 0 0 GPC4 2239 broad.mit.edu 37 X 132439841 132439841 + Missense_Mutation SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chrX:132439841C>T uc004exc.1 - 6 1326 c.1114G>A c.(1114-1116)GAA>AAA p.E372K GPC4_uc011mvg.1_Missense_Mutation_p.E302K NM_001448 NP_001439 O75487 GPC4_HUMAN glypican 4 precursor 372 anatomical structure morphogenesis|cell proliferation anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding 0 Acute lymphoblastic leukemia(192;0.000127) GTTGGGCGTTCCTCGGGGTGA 0.552 NA 29 301 0 0 0.001512 0 0 FREM2 341640 broad.mit.edu 37 13 39261568 39261570 + In_Frame_Del DEL GCT GCT - TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 GCT GCT - - GCT GCT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr13:39261568_39261570delGCT uc001uwv.2 + 1 396_398 c.87_89delGCT c.(85-90)CGGCTG>CGG p.L38del NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 38 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CGCCGCCCCGgctgctgctgctg 0.626 NA 2 4 --- --- --- --- NA NA NA NA NA CCDC88A 55704 broad.mit.edu 37 2 55555500 55555501 + Frame_Shift_Ins INS - - T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr2:55555500_55555501insT uc002ryv.2 - 17 3765_3766 c.2923_2924insA c.(2923-2925)ATTfs p.I975fs CCDC88A_uc010yoz.1_Frame_Shift_Ins_p.I976fs|CCDC88A_uc010ypa.1_Frame_Shift_Ins_p.I975fs|CCDC88A_uc002ryu.2_Frame_Shift_Ins_p.I258fs|CCDC88A_uc002rys.2_5'UTR|CCDC88A_uc002ryw.2_Frame_Shift_Ins_p.I259fs|CCDC88A_uc010fby.1_5'UTR NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A isoform 1 976 Potential. activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding ovary(2)|skin(2) 4 TAAAGCAGCAATTTTTTCTTCT 0.307 NA 14 26 --- --- --- --- NA NA NA NA NA Unknown 0 broad.mit.edu 37 4 119434815 119434822 + Frame_Shift_Del DEL AGAGCCAC AGAGCCAC - TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 AGAGCCAC AGAGCCAC - - AGAGCCAC AGAGCCAC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3a146eb4-7b9b-4834-b3d0-eac80f9173ec 056f3049-18f0-4c6b-8681-f4b11908fb53 g.chr4:119434815_119434822delAGAGCCAC uc010imy.1 + 2 170_177 c.101_108delAGAGCCAC c.(100-108)GAGAGCCACfs p.E34fs CEP170L_uc003icb.2_5'Flank Homo sapiens cDNA, FLJ98257. NA AAGTCTCTTGAGAGCCACAGAGCAAAGG 0.452 NA 9 43 --- --- --- --- NA NA NA NA NA