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 HSPG2 3339 broad.mit.edu 37 1 22179193 22179193 + Nonsense_Mutation SNP C C A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr1:22179193C>A uc001bfj.2 - 52 6764 c.6724G>T c.(6724-6726)GGA>TGA p.G2242* HSPG2_uc009vqd.2_Nonsense_Mutation_p.G2243* NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 2242 Ig-like C2-type 7. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) AGTCACTCACCAGGGATGACA 0.637 NA 27 161 1.88708e-17 2.96823e-17 0.008361 1 0 DAB1 1600 broad.mit.edu 37 1 57480716 57480716 + Silent SNP G G A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr1:57480716G>A uc001cys.1 - 14 1958 c.1284C>T c.(1282-1284)TCC>TCT p.S428S DAB1_uc001cyt.1_Silent_p.S426S|DAB1_uc001cyq.1_Silent_p.S426S|DAB1_uc001cyr.1_Silent_p.S342S|DAB1_uc009vzw.1_Silent_p.S410S|DAB1_uc009vzx.1_Silent_p.S428S NM_021080 NP_066566 O75553 DAB1_HUMAN disabled homolog 1 461 cell differentiation|nervous system development skin(2)|ovary(1) 3 CGGGTTTGCGGGAGGGCACGG 0.567 NA 3 81 0 0 0.009096 0 0 TTLL7 79739 broad.mit.edu 37 1 84373239 84373239 + Missense_Mutation SNP C C T TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr1:84373239C>T uc001djc.2 - 16 2288 c.1892G>A c.(1891-1893)CGG>CAG p.R631Q TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_RNA|TTLL7_uc001djg.2_RNA NM_024686 NP_078962 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 631 cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity ovary(1) 1 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) AGAAGTTGGCCGTGACACAGA 0.507 NA 4 105 0 0 0.009096 0 0 CLCA1 1179 broad.mit.edu 37 1 86951243 86951243 + Missense_Mutation SNP C C T TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr1:86951243C>T uc001dlt.2 + 6 1082 c.953C>T c.(952-954)GCG>GTG p.A318V CLCA1_uc001dls.1_Missense_Mutation_p.A257V NM_001285 NP_001276 A8K7I4 CLCA1_HUMAN chloride channel accessory 1 precursor 318 VWFA. calcium ion transport extracellular space|integral to plasma membrane chloride channel activity ovary(1) 1 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) GGAAGCATGGCGGTATGTTCA 0.468 NA 11 138 0 0 0.00245 0 0 KCNA3 3738 broad.mit.edu 37 1 111216622 111216622 + Silent SNP C C A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr1:111216622C>A uc001dzv.1 - 1 1034 c.810G>T c.(808-810)TCG>TCT p.S270S NM_002232 NP_002223 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related 270 voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(4)|pancreas(1) 5 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) ATGAGTCCTGCGACGTCGAGG 0.622 NA 17 76 1.99824e-07 2.49367e-07 0.00499 1 0 TRIM33 51592 broad.mit.edu 37 1 114940316 114940316 + Missense_Mutation SNP C C T TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr1:114940316C>T uc001eew.2 - 20 3422 c.3338G>A c.(3337-3339)CGC>CAC p.R1113H TRIM33_uc010owr.1_Missense_Mutation_p.R727H|TRIM33_uc010ows.1_Missense_Mutation_p.R745H|TRIM33_uc001eex.2_Missense_Mutation_p.R1096H NM_015906 NP_056990 Q9UPN9 TRI33_HUMAN tripartite motif-containing 33 protein isoform 1113 negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1) 11 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GCGTTTTCTGCGGGGCTGTAT 0.363 NA T RET papillary thyroid 4 141 0 0 0.000602 0 0 NBPF10 100132406 broad.mit.edu 37 1 145295453 145295453 + Missense_Mutation SNP T T G TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr1:145295453T>G uc001end.3 + 2 241 c.206T>G c.(205-207)TTT>TGT p.F69C NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Missense_Mutation_p.F69C|NOTCH2NL_uc010oyh.1_RNA|NBPF10_uc001emq.1_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 69 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) CTCATAAAATTTATGCTGAGG 0.532 NA 3 112 0 0 0.004672 0 0 BCL9 607 broad.mit.edu 37 1 147084715 147084715 + Silent SNP T T C TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr1:147084715T>C uc001epq.2 + 5 827 c.87T>C c.(85-87)CGT>CGC p.R29R BCL9_uc010ozr.1_Silent_p.R29R NM_004326 NP_004317 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 29 Wnt receptor signaling pathway nucleus protein binding ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.115) TGATGGTCCGTCCCCCTACAG 0.502 NA T IGH@|IGL@ B-ALL 3 141 0 0 0.009096 0 0 ARNT 405 broad.mit.edu 37 1 150807080 150807080 + Missense_Mutation SNP T T C TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr1:150807080T>C uc001evr.1 - 8 880 c.737A>G c.(736-738)AAG>AGG p.K246R ARNT_uc001evs.1_Missense_Mutation_p.K231R|ARNT_uc009wmb.1_Missense_Mutation_p.K237R|ARNT_uc009wmc.1_Missense_Mutation_p.K246R|ARNT_uc009wmd.1_Missense_Mutation_p.K231R|ARNT_uc009wme.1_Missense_Mutation_p.K246R|ARNT_uc010pcl.1_Missense_Mutation_p.K230R NM_001668 NP_001659 P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator 246 positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity skin(4)|lung(3)|central_nervous_system(1)|kidney(1) 9 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) CTGACCTTCCTTTTTCACTGT 0.463 NA T ETV6 AML 3 174 0 0 0.009096 0 0 FLG 2312 broad.mit.edu 37 1 152275555 152275555 + Missense_Mutation SNP T T A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr1:152275555T>A uc001ezu.1 - 3 11843 c.11807A>T c.(11806-11808)CAA>CTA p.Q3936L NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3936 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CGCAGAATCTTGTGAAAGACT 0.453 NA Ichthyosis 19 84 0 0 0.010504 0 0 TNN 63923 broad.mit.edu 37 1 175054540 175054540 + Splice_Site SNP G G T TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr1:175054540G>T uc001gkl.1 + 6 1348 c.1235_splice c.e6-1 p.G412_splice TNN_uc010pmx.1_Splice_Site_p.G412_splice NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CTTGTTTCCAGGTCTGCACCC 0.597 NA 3 27 0.004672 0.00507534 0.004672 1 0 DISP1 84976 broad.mit.edu 37 1 223178305 223178305 + Missense_Mutation SNP A A C TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr1:223178305A>C uc001hnu.1 + 8 3713 c.3566A>C c.(3565-3567)CAT>CCT p.H1189P NM_032890 NP_116279 Q96F81 DISP1_HUMAN dispatched A 1189 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity 0 GBM - Glioblastoma multiforme(131;0.102) GAACTGGAGCATGAGTTTTAT 0.453 NA 11 55 0 0 0.013537 0 0 ITPKB 3707 broad.mit.edu 37 1 226923355 226923355 + Missense_Mutation SNP G G A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr1:226923355G>A uc010pvo.1 - 2 2145 c.1805C>T c.(1804-1806)TCG>TTG p.S602L ITPKB_uc001hqh.2_Missense_Mutation_p.S602L NM_002221 NP_002212 P27987 IP3KB_HUMAN 1D-myo-inositol-trisphosphate 3-kinase B 602 Poly-Ser. ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity ovary(4)|central_nervous_system(1) 5 Prostate(94;0.0773) GGAGGAGGCCGAGGAAGAGGA 0.612 Colon(84;110 1851 5306 33547) NA 3 58 0 0 0.004672 0 0 FMN2 56776 broad.mit.edu 37 1 240635673 240635673 + Missense_Mutation SNP G G C TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr1:240635673G>C uc010pyd.1 + 17 5287 c.5062G>C c.(5062-5064)GTA>CTA p.V1688L FMN2_uc010pye.1_Missense_Mutation_p.V1692L|FMN2_uc010pyg.1_Missense_Mutation_p.V284L|FMN2_uc001hyr.2_RNA NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1688 Potential.|FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCCCATCAGAGTAAAAGAAGC 0.333 NA 3 83 0 0 0.009096 0 0 KMO 8564 broad.mit.edu 37 1 241714278 241714278 + Missense_Mutation SNP G G T TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr1:241714278G>T uc009xgp.2 + 4 311 c.246G>T c.(244-246)ATG>ATT p.M82I KMO_uc001hyy.2_Missense_Mutation_p.M82I|KMO_uc009xgo.1_Missense_Mutation_p.M82I NM_003679 NP_003670 O15229 KMO_HUMAN kynurenine 3-monooxygenase 82 pyridine nucleotide biosynthetic process|response to salt stress cytosol|integral to membrane|mitochondrial outer membrane electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity ovary(2) 2 Ovarian(103;0.103)|all_lung(81;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.0176) GTATTCCCATGAGAGCAAGAA 0.378 NA 52 193 1.55088e-19 2.54547e-19 0.01441 1 0 PRKCQ 5588 broad.mit.edu 37 10 6540402 6540402 + Missense_Mutation SNP G G C TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr10:6540402G>C uc001ijj.1 - 5 573 c.498C>G c.(496-498)TTC>TTG p.F166L PRKCQ_uc009xim.1_Missense_Mutation_p.F166L|PRKCQ_uc001iji.1_Missense_Mutation_p.F199L|PRKCQ_uc009xin.1_Missense_Mutation_p.F130L|PRKCQ_uc010qax.1_Missense_Mutation_p.F41L NM_006257 NP_006248 Q04759 KPCT_HUMAN protein kinase C, theta 166 Phorbol-ester/DAG-type 1. axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity ovary(3)|lung(2)|large_intestine(1) 6 GCTGTGGGAAGAAGGTGGCAG 0.522 Ovarian(50;572 1126 10530 25349 30594) NA 23 127 0 0 0.010818 0 0 CUBN 8029 broad.mit.edu 37 10 16990602 16990602 + Missense_Mutation SNP C C T rs145880377 TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr10:16990602C>T uc001ioo.2 - 35 5136 c.5084G>A c.(5083-5085)CGT>CAT p.R1695H NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1695 CUB 11. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GCCACAGTAACGGCCTAAATA 0.473 NA 3 28 0 0 0.009096 0 0 ARHGAP12 94134 broad.mit.edu 37 10 32099639 32099639 + Missense_Mutation SNP T T A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr10:32099639T>A uc001ivz.1 - 16 2258 c.1988A>T c.(1987-1989)CAG>CTG p.Q663L ARHGAP12_uc001ivy.1_Missense_Mutation_p.Q609L|ARHGAP12_uc009xls.2_Missense_Mutation_p.Q614L|ARHGAP12_uc001iwb.1_Missense_Mutation_p.Q656L|ARHGAP12_uc001iwc.1_Missense_Mutation_p.Q631L|ARHGAP12_uc009xlq.1_Missense_Mutation_p.Q584L|ARHGAP12_uc001ivw.1_5'Flank|ARHGAP12_uc001ivx.1_5'Flank NM_018287 NP_060757 Q8IWW6 RHG12_HUMAN Rho GTPase activating protein 12 663 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 Prostate(175;0.0199) ATTCTCTCTCTGACACAGATT 0.318 NA 32 124 0 0 0.01441 0 0 B4GALNT4 338707 broad.mit.edu 37 11 381703 381703 + Nonsense_Mutation SNP C C T TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr11:381703C>T uc001lpb.2 + 20 3040 c.3031C>T c.(3031-3033)CGA>TGA p.R1011* NM_178537 NP_848632 Q76KP1 B4GN4_HUMAN beta 1011 Lumenal (Potential). Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity pancreas(1) 1 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGAGCGGCTCCGACTGCGGAA 0.682 NA 7 89 0 0 0.004482 0 0 NELL1 4745 broad.mit.edu 37 11 21250897 21250897 + Silent SNP C C T TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr11:21250897C>T uc001mqe.2 + 14 1599 c.1446C>T c.(1444-1446)AGC>AGT p.S482S NELL1_uc001mqf.2_Silent_p.S482S|NELL1_uc009yid.2_Silent_p.S510S|NELL1_uc010rdo.1_Silent_p.S425S|NELL1_uc010rdp.1_Silent_p.S242S NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 482 EGF-like 3. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 AATGTGGCAGCGGCCAGCACA 0.488 NA 17 71 0 0 0.00278 0 0 OR4C16 219428 broad.mit.edu 37 11 55339695 55339695 + Missense_Mutation SNP G G A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr11:55339695G>A uc010rih.1 + 1 92 c.92G>A c.(91-93)CGT>CAT p.R31H NM_001004701 NP_001004701 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, 31 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_epithelial(135;0.0748) ATTTTTTTGCGTCTCTACTTG 0.368 NA 5 111 0 0 0.008291 0 0 FADS1 3992 broad.mit.edu 37 11 61580035 61580035 + Silent SNP G G A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr11:61580035G>A uc010rlm.1 - 3 720 c.592C>T c.(592-594)CTG>TTG p.L198L FADS1_uc001nsh.2_Silent_p.L57L|FADS1_uc010rln.1_Silent_p.L57L NM_013402 NP_037534 O60427 FADS1_HUMAN fatty acid desaturase 1 141 Helical; (Potential). cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport endoplasmic reticulum membrane|integral to membrane|microsome C-5 sterol desaturase activity|heme binding|protein binding central_nervous_system(1) 1 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) CCATCCAGCAGCAAGATGTGC 0.592 NA 3 68 0 0 0.000602 0 0 PPP2R5B 5526 broad.mit.edu 37 11 64695896 64695896 + Missense_Mutation SNP C C T TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr11:64695896C>T uc001oby.2 + 6 1306 c.721C>T c.(721-723)CGG>TGG p.R241W PPP2R5B_uc001obz.2_Missense_Mutation_p.R241W NM_006244 NP_006235 Q15173 2A5B_HUMAN beta isoform of regulatory subunit B56, protein 241 signal transduction cytoplasm|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity ovary(2) 2 CATCTTCCTCCGGTGAGTGGC 0.517 NA 4 126 0 0 0.000602 0 0 DPP3 10072 broad.mit.edu 37 11 66258810 66258810 + Missense_Mutation SNP G G C TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr11:66258810G>C uc001oig.1 + 7 816 c.754G>C c.(754-756)GCG>CCG p.A252P DPP3_uc001oif.1_Missense_Mutation_p.A252P|DPP3_uc010rpe.1_Missense_Mutation_p.A241P NM_005700 NP_005691 Q9NY33 DPP3_HUMAN dipeptidyl peptidase III 252 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity ovary(1)|skin(1) 2 GGGGGACTACGCGCCCATCCT 0.627 NA OREG0021109 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 93 0 0 0.008871 0 0 CTTN 2017 broad.mit.edu 37 11 70279299 70279299 + Silent SNP C C T TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr11:70279299C>T uc001opv.3 + 16 1565 c.1359C>T c.(1357-1359)TAC>TAT p.Y453Y CTTN_uc001opu.2_Silent_p.Y416Y|CTTN_uc001opw.3_Silent_p.Y416Y|CTTN_uc010rqm.1_Silent_p.Y137Y|CTTN_uc001opx.2_Silent_p.Y137Y NM_005231 NP_005222 Q14247 SRC8_HUMAN cortactin isoform a 453 cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513) Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133) CCGCTGACTACCGAGAGGCCA 0.657 NA 7 44 0 0 0.006214 0 0 FAT3 120114 broad.mit.edu 37 11 92533638 92533638 + Missense_Mutation SNP C C T TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr11:92533638C>T uc001pdj.3 + 9 7476 c.7459C>T c.(7459-7461)CTT>TTT p.L2487F NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2487 Cadherin 22.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TATTAGGGTACTTGGGGCTAA 0.507 NA TCGA Ovarian(4;0.039) 17 51 0 0 0.006122 0 0 LRP6 4040 broad.mit.edu 37 12 12279682 12279682 + Missense_Mutation SNP C C A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr12:12279682C>A uc001rah.3 - 20 4397 c.4255G>T c.(4255-4257)GCT>TCT p.A1419S BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.A1374S NM_002336 NP_002327 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 1419 Cytoplasmic (Potential). cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1) 12 Prostate(47;0.0865) GGCACAGAAGCTGGTCCATGA 0.458 NA 27 107 7.11191e-15 1.08475e-14 0.013726 1 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr12:25398284C>A uc001rgp.1 - 2 216 c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 21 28 3.73148e-12 5.36622e-12 0.007291 1 0 MLL2 8085 broad.mit.edu 37 12 49434727 49434727 + Missense_Mutation SNP G G A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr12:49434727G>A uc001rta.3 - 31 6826 c.6826C>T c.(6826-6828)CCA>TCA p.P2276S NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 2276 Pro-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 CCAAAAGGTGGGGGCGAGAGC 0.622 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 34 46 0 0 0.004878 0 0 KCNH3 23416 broad.mit.edu 37 12 49951615 49951615 + Missense_Mutation SNP C C A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr12:49951615C>A uc001ruh.1 + 15 3391 c.3131C>A c.(3130-3132)CCC>CAC p.P1044H KCNH3_uc010smj.1_Missense_Mutation_p.P984H NM_012284 NP_036416 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H 1044 Pro-rich.|Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity 0 ACTGGAGAGCCCCCACCAGGG 0.677 NA 8 48 0.000274275 0.000311395 0.004482 1 0 PLA2G1B 5319 broad.mit.edu 37 12 120765547 120765547 + Missense_Mutation SNP G G T TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr12:120765547G>T uc001tyd.2 - 1 46 c.10C>A c.(10-12)CTT>ATT p.L4I PLA2G1B_uc009zwx.2_Missense_Mutation_p.L4I NM_000928 NP_000919 P04054 PA21B_HUMAN phospholipase A2 group IB precursor 4 actin filament organization|activation of MAPK activity|activation of phospholipase A2 activity|arachidonic acid secretion|cellular response to insulin stimulus|glucose transport|interleukin-8 production|leukotriene biosynthetic process|multicellular organismal lipid catabolic process|neutrophil chemotaxis|neutrophil mediated immunity|phosphatidylcholine metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of DNA replication|positive regulation of immune response|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter extracellular space bile acid binding|calcium ion binding|calcium-dependent phospholipase A2 activity|cell surface binding|receptor binding skin(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCTAGCACAAGGAGTTTCATC 0.527 NSCLC(64;1781 1795 22266 42732)|Esophageal Squamous(30;459 829 25326 35148) NA 23 91 5.77227e-19 9.37218e-19 0.008361 1 0 GOLGA3 2802 broad.mit.edu 37 12 133384781 133384781 + Missense_Mutation SNP C C A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr12:133384781C>A uc001ukz.1 - 5 1433 c.874G>T c.(874-876)GAC>TAC p.D292Y GOLGA3_uc001ula.1_Missense_Mutation_p.D292Y|GOLGA3_uc001ulb.2_Missense_Mutation_p.D292Y NM_005895 NP_005886 Q08378 GOGA3_HUMAN Golgi autoantigen, golgin subfamily a, 3 292 intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) TCGTCAGTGTCGGGGGACAGG 0.592 NA 32 116 8.4185e-14 1.24627e-13 0.012213 1 0 PARP4 143 broad.mit.edu 37 13 25023877 25023877 + Silent SNP G G A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr13:25023877G>A uc001upl.2 - 25 3199 c.3093C>T c.(3091-3093)TCC>TCT p.S1031S NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 1031 VWFA. cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity ovary(3)|skin(1) 4 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) AACTATGCTTGGATTTTGCAT 0.333 NA 17 82 0 0 0.008871 0 0 OR4K1 79544 broad.mit.edu 37 14 20404299 20404299 + Missense_Mutation SNP C C A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr14:20404299C>A uc001vwj.1 + 1 474 c.474C>A c.(472-474)AGC>AGA p.S158R NM_001004063 NP_001004063 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, 158 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) ATTCTGTGAGCCACTTGGCTT 0.478 NA 26 63 4.59853e-10 6.25566e-10 0.005443 1 0 LTBP2 4053 broad.mit.edu 37 14 74973502 74973502 + Missense_Mutation SNP G G C TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr14:74973502G>C uc001xqa.2 - 27 4319 c.3932C>G c.(3931-3933)ACC>AGC p.T1311S NM_000428 NP_000419 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding 1311 Cys-rich.|EGF-like 15; calcium-binding (Potential). 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) GCCACACATGGTGTCGTTGGC 0.463 NA 9 50 0 0 0.013537 0 0 NRXN3 9369 broad.mit.edu 37 14 79270063 79270063 + Silent SNP C C A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr14:79270063C>A uc001xun.2 + 6 1517 c.1026C>A c.(1024-1026)TCC>TCA p.S342S NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Silent_p.S476S NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 715 Laminin G-like 4.|Extracellular (Potential). axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GCTTCATGTCCCAGCGAGCTT 0.557 NA 27 84 8.58068e-18 1.36388e-17 0.007291 1 0 KIAA1409 57578 broad.mit.edu 37 14 94139798 94139798 + Silent SNP T T A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr14:94139798T>A uc001ybv.1 + 40 6473 c.6390T>A c.(6388-6390)GTT>GTA p.V2130V KIAA1409_uc001ybs.1_Silent_p.V2108V NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 2285 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) TTCTGCTTGTTCAGGTAAGCT 0.373 NA 17 81 0 0 0.00499 0 0 C15orf2 23742 broad.mit.edu 37 15 24924367 24924367 + Missense_Mutation SNP C C A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr15:24924367C>A uc001ywo.2 + 1 3827 c.3353C>A c.(3352-3354)GCT>GAT p.A1118D NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 1118 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) TGTGTTCCTGCTTTTCAACAG 0.488 NA 25 143 8.58068e-18 1.36388e-17 0.007291 1 0 SLC12A6 9990 broad.mit.edu 37 15 34529746 34529746 + Missense_Mutation SNP C C A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr15:34529746C>A uc001zhw.2 - 21 2972 c.2808G>T c.(2806-2808)TGG>TGT p.W936C SLC12A6_uc001zhv.2_Missense_Mutation_p.W885C|SLC12A6_uc001zhx.2_Missense_Mutation_p.W921C|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.W877C|SLC12A6_uc001zib.2_Missense_Mutation_p.W927C|SLC12A6_uc001zic.2_Missense_Mutation_p.W936C|SLC12A6_uc010bau.2_Missense_Mutation_p.W936C|SLC12A6_uc001zid.2_Missense_Mutation_p.W877C|SLC12A6_uc001zht.2_RNA|SLC12A6_uc001zhu.2_Missense_Mutation_p.W748C NM_133647 NP_598408 Q9UHW9 S12A6_HUMAN solute carrier family 12, member 6 isoform a 936 Cytoplasmic (Potential). angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|ovary(1)|skin(1) 7 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) TGCACTTTCGCCACACCTGAG 0.418 NA 12 77 0.00316338 0.00348664 0.003163 1 0 PAQR5 54852 broad.mit.edu 37 15 69696075 69696075 + Missense_Mutation SNP A A T TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr15:69696075A>T uc002arz.2 + 9 1285 c.907A>T c.(907-909)ATC>TTC p.I303F PAQR5_uc002asa.2_Missense_Mutation_p.I303F NM_017705 NP_060175 Q9NXK6 MPRG_HUMAN progestin and adipoQ receptor family member V 303 Helical; Name=7; (Potential). cell differentiation|multicellular organismal development|oogenesis integral to membrane receptor activity|steroid binding ovary(2) 2 ACTTCTGTGCATCATCTTCAG 0.458 NA 15 69 0 0 0.00499 0 0 SEPT12 124404 broad.mit.edu 37 16 4833675 4833675 + Missense_Mutation SNP T T A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr16:4833675T>A uc002cxq.2 - 6 746 c.605A>T c.(604-606)GAG>GTG p.E202V SEPT12_uc002cxr.2_Missense_Mutation_p.E156V|SEPT12_uc010bty.2_RNA NM_144605 NP_653206 Q8IYM1 SEP12_HUMAN septin 12 isoform 2 202 GTP (By similarity). cell cycle|cell division cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity skin(1) 1 CTCTCGCTCCTCCATGGTCAG 0.687 NA 18 61 0 0 0.010504 0 0 COQ7 10229 broad.mit.edu 37 16 19088645 19088645 + Silent SNP G G A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr16:19088645G>A uc002dfr.2 + 5 585 c.525G>A c.(523-525)CGG>CGA p.R175R COQ7_uc002dfs.2_Silent_p.R161R NM_016138 NP_057222 Q99807 COQ7_HUMAN COQ7 protein 175 2.|2 X approximate tandem repeats. ubiquinone biosynthetic process mitochondrial inner membrane|nucleus oxidoreductase activity|transition metal ion binding skin(1) 1 AGAAATTTCGGGATGAAGAGC 0.448 NA 12 32 0 0 0.004007 0 0 SULT1A1 6817 broad.mit.edu 37 16 28619895 28619895 + Missense_Mutation SNP T T A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr16:28619895T>A uc002dqi.2 - 2 651 c.178A>T c.(178-180)ATG>TTG p.M60L uc010vct.1_Intron|SULT1A1_uc002dqj.2_Missense_Mutation_p.M60L|SULT1A1_uc002dqk.2_Missense_Mutation_p.M60L|SULT1A1_uc002dql.2_Missense_Mutation_p.M60L|SULT1A1_uc002dqm.2_Intron|SULT1A1_uc002dqn.2_Missense_Mutation_p.M151L|SULT1A1_uc002dqo.2_Missense_Mutation_p.M60L|SULT1A1_uc002dqp.2_Missense_Mutation_p.M60L NM_177534 NP_803878 P50225 ST1A1_HUMAN sulfotransferase family, cytosolic, 1A, 60 3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity 0 TGGTAGATCATGTCCAGAATC 0.602 NA 4 41 0 0 0.00499 0 0 ITGAL 3683 broad.mit.edu 37 16 30532924 30532924 + Missense_Mutation SNP G G C TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr16:30532924G>C uc002dyi.3 + 31 3627 c.3451G>C c.(3451-3453)GAT>CAT p.D1151H ITGAL_uc002dyj.3_Missense_Mutation_p.D1067H|ITGAL_uc010vev.1_Missense_Mutation_p.D385H NM_002209 NP_002200 P20701 ITAL_HUMAN integrin alpha L isoform a precursor 1151 Cytoplasmic (Potential). blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity ovary(3)|lung(3)|central_nervous_system(3)|breast(1) 10 Efalizumab(DB00095) AGAGGCTGGGGATCCCGGCTG 0.512 NSCLC(110;1462 1641 3311 33990 49495) NA 18 87 0 0 0.00333 0 0 RFFL 117584 broad.mit.edu 37 17 33348651 33348651 + Missense_Mutation SNP C C A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr17:33348651C>A uc002hin.1 - 3 503 c.330G>T c.(328-330)AGG>AGT p.R110S RFFL_uc002hiq.2_Intron|RFFL_uc002him.1_Missense_Mutation_p.R110S|RFFL_uc010cti.1_Missense_Mutation_p.R116S|RFFL_uc002hip.1_Missense_Mutation_p.R110S|RFFL_uc002hio.1_Missense_Mutation_p.R110S NM_001017368 NP_001017368 Q8WZ73 RFFL_HUMAN rififylin 110 SAP 1. apoptosis membrane ligase activity|zinc ion binding 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) TGAGATAGTCCCTCAAGTCCT 0.552 NA 18 84 8.10497e-08 1.03716e-07 0.010504 1 0 KLHL11 55175 broad.mit.edu 37 17 40021265 40021265 + Missense_Mutation SNP T T A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr17:40021265T>A uc002hyf.1 - 1 365 c.359A>T c.(358-360)GAG>GTG p.E120V NM_018143 NP_060613 Q9NVR0 KLH11_HUMAN kelch-like 11 precursor 120 BTB. extracellular region 0 Breast(137;0.00156) CGTGAAGTACTCGGTGGCGGC 0.701 NA 6 34 0 0 0.001168 0 0 BZRAP1 9256 broad.mit.edu 37 17 56387946 56387946 + Missense_Mutation SNP C C G TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr17:56387946C>G uc002ivx.3 - 20 4497 c.3626G>C c.(3625-3627)CGG>CCG p.R1209P BZRAP1_uc010dcs.2_Missense_Mutation_p.R1149P|BZRAP1_uc010wnt.1_Missense_Mutation_p.R1209P NM_004758 NP_004749 O95153 RIMB1_HUMAN peripheral benzodiazepine receptor-associated 1209 mitochondrion benzodiazepine receptor binding upper_aerodigestive_tract(2)|skin(1) 3 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTGCTGGGCCCGTGCTCCCTG 0.672 NA 8 43 0 0 0.00308 0 0 CACNG1 786 broad.mit.edu 37 17 65040854 65040854 + Silent SNP C C A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr17:65040854C>A uc002jfu.2 + 1 149 c.78C>A c.(76-78)GCC>GCA p.A26A NM_000727 NP_000718 Q06432 CCG1_HUMAN voltage-dependent calcium channel gamma-1 26 Helical; (Potential). muscle contraction voltage-gated calcium channel complex voltage-gated calcium channel activity 0 all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12) Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661) CCATGACAGCCGTGGTAACCG 0.632 NA 24 106 1.7881e-09 2.38941e-09 0.008361 1 0 DNAH17 8632 broad.mit.edu 37 17 76566359 76566359 + Silent SNP C C A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr17:76566359C>A uc002jvv.1 - 3 226 c.120G>T c.(118-120)CTG>CTT p.L40L RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal; ovary(6)|breast(2)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AGAACTCCTGCAGGATGACGA 0.587 NA 3 9 0.004672 0.00507534 0.004672 1 0 TUBB6 84617 broad.mit.edu 37 18 12325517 12325517 + Silent SNP G G A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr18:12325517G>A uc002kqw.2 + 4 774 c.729G>A c.(727-729)CCG>CCA p.P243P TUBB6_uc002kqv.2_Silent_p.P171P|TUBB6_uc010dld.2_RNA|TUBB6_uc002kqx.2_Silent_p.P206P|TUBB6_uc002kqy.2_Intron NM_032525 NP_115914 Q9BUF5 TBB6_HUMAN tubulin, beta 6 243 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity 0 READ - Rectum adenocarcinoma(1;0.0649) TGCGCTTCCCGGGCCAGCTCA 0.657 NA 12 80 0 0 0.00245 0 0 GATA6 2627 broad.mit.edu 37 18 19751291 19751291 + Silent SNP G G T TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr18:19751291G>T uc002ktt.1 + 2 451 c.186G>T c.(184-186)ACG>ACT p.T62T GATA6_uc002ktu.1_Silent_p.T62T NM_005257 NP_005248 Q92908 GATA6_HUMAN GATA binding protein 6 62 blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(3) 3 all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246) STAD - Stomach adenocarcinoma(5;0.106) ACTGCGGGACGCCTCAGCTCG 0.751 Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999) NA 18 15 1.10513e-12 1.62015e-12 0.014323 1 0 CNDP2 55748 broad.mit.edu 37 18 72176088 72176088 + Silent SNP G G A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr18:72176088G>A uc002llm.1 + 5 543 c.381G>A c.(379-381)GGG>GGA p.G127G CNDP2_uc002lln.1_Intron|CNDP2_uc002llo.2_Silent_p.G127G|CNDP2_uc002llp.1_RNA|CNDP2_uc010dqs.2_5'Flank NM_018235 NP_060705 Q96KP4 CNDP2_HUMAN CNDP dipeptidase 2 127 cytoplasm carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity ovary(2)|skin(1) 3 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.22) AGCTGTATGGGAGAGGTTCGA 0.522 NA 7 34 0 0 0.008291 0 0 ADNP2 22850 broad.mit.edu 37 18 77894355 77894355 + Missense_Mutation SNP G G T TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr18:77894355G>T uc002lnw.2 + 4 1514 c.1059G>T c.(1057-1059)CAG>CAT p.Q353H NM_014913 NP_055728 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 353 Pro-rich. cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|breast(3)|central_nervous_system(1) 8 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) CAGCACCTCAGCCCGTCTTTC 0.582 NA 13 60 2.23348e-06 2.63481e-06 0.004007 1 0 HNRNPM 4670 broad.mit.edu 37 19 8528531 8528531 + Missense_Mutation SNP C C A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr19:8528531C>A uc010dwe.2 + 5 479 c.399C>A c.(397-399)AAC>AAA p.N133K HNRNPM_uc010dwc.1_Missense_Mutation_p.N133K|HNRNPM_uc010xke.1_Missense_Mutation_p.N133K|HNRNPM_uc010dwd.2_Missense_Mutation_p.N133K|HNRNPM_uc002mka.2_Missense_Mutation_p.N13K NM_005968 NP_005959 P52272 HNRPM_HUMAN heterogeneous nuclear ribonucleoprotein M 133 RRM 1. alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles nucleotide binding|protein domain specific binding|RNA binding 0 AAGTCCTAAACAAGCATAGTC 0.418 NA 9 44 9.05144e-12 1.27735e-11 0.001855 1 0 ZNF699 374879 broad.mit.edu 37 19 9407173 9407173 + Missense_Mutation SNP C C T TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr19:9407173C>T uc002mlc.1 - 5 907 c.907G>A c.(907-909)GGA>AGA p.G303R NM_198535 NP_940937 Q32M78 ZN699_HUMAN zinc finger protein 699 303 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GGCTTATCTCCACTGTGAATT 0.393 NA 25 121 0 0 0.00632 0 0 FDX1L 112812 broad.mit.edu 37 19 10421212 10421212 + Nonsense_Mutation SNP T T A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr19:10421212T>A uc002mny.1 - 5 521 c.502A>T c.(502-504)AAG>TAG p.K168* ZGLP1_uc002mnw.3_5'Flank|FDX1L_uc002mnx.1_RNA NM_001031734 NP_001026904 Q6P4F2 ADXL_HUMAN ferredoxin 1-like precursor 168 2Fe-2S ferredoxin-type. electron transport chain|transport mitochondrial matrix 2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06) CTGGTGATCTTGGGCAGGGTG 0.602 NA 7 67 0 0 0.001984 0 0 ZNF99 7652 broad.mit.edu 37 19 22939472 22939472 + Missense_Mutation SNP A A G rs55891931 TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr19:22939472A>G uc010xrh.1 - 7 2699 c.2699T>C c.(2698-2700)TTC>TCC p.F900S NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) AAGGGTCGAGAAATTGTTAAA 0.353 NA 3 88 0 0 0.004672 0 0 AXL 558 broad.mit.edu 37 19 41748808 41748808 + Missense_Mutation SNP G G T TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr19:41748808G>T uc010ehj.2 + 11 1523 c.1333G>T c.(1333-1335)GCC>TCC p.A445S CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Missense_Mutation_p.A445S|AXL_uc010ehk.2_Missense_Mutation_p.A436S NM_021913 NP_068713 P30530 UFO_HUMAN AXL receptor tyrosine kinase isoform 1 445 Extracellular (Potential). integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1) 13 TTCAACTCCTGCCTTCTCGTG 0.567 NA 17 81 4.96729e-08 6.46604e-08 0.008871 1 0 GRIK5 2901 broad.mit.edu 37 19 42509946 42509946 + Missense_Mutation SNP C C T TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr19:42509946C>T uc002osj.1 - 16 2227 c.2192G>A c.(2191-2193)CGC>CAC p.R731H GRIK5_uc002osi.1_Missense_Mutation_p.R303H NM_002088 NP_002079 Q16478 GRIK5_HUMAN glutamate receptor KA2 precursor 731 Extracellular (Potential). cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity 0 Prostate(69;0.059) L-Glutamic Acid(DB00142) GCAGTTGAGGCGCCGGTGGTA 0.622 NA 8 42 0 0 0.008291 0 0 ZNF526 116115 broad.mit.edu 37 19 42730535 42730535 + Silent SNP C C A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr19:42730535C>A uc002osz.1 + 3 2136 c.1980C>A c.(1978-1980)GGC>GGA p.G660G NM_133444 NP_597701 Q8TF50 ZN526_HUMAN zinc finger protein 526 660 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0704) GTGAAGCAGGCGGGCTCTTGC 0.597 NA 4 167 0.000602214 0.000673588 0.000602 1 0 ZNF404 342908 broad.mit.edu 37 19 44376838 44376838 + Missense_Mutation SNP G G T TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr19:44376838G>T uc002oxs.3 - 2 1528 c.1519C>A c.(1519-1521)CTT>ATT p.L507I NM_001033719 NP_001028891 Q494X3 ZN404_HUMAN zinc finger protein 404 510 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352) TGTTGAGTAAGTCGATCACTG 0.373 NA 6 33 2.0095e-06 2.40821e-06 0.001984 1 0 PRRG2 5639 broad.mit.edu 37 19 50093639 50093639 + Missense_Mutation SNP C C T TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr19:50093639C>T uc002pon.3 + 7 767 c.602C>T c.(601-603)CCT>CTT p.P201L PRRG2_uc010yaz.1_Missense_Mutation_p.P178L|PRR12_uc002poo.3_5'Flank NM_000951 NP_000942 O14669 TMG2_HUMAN proline rich Gla (G-carboxyglutamic acid) 2 201 Cytoplasmic (Potential). extracellular region|integral to plasma membrane calcium ion binding skin(1) 1 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121) CTCAGGAGGCCTCACTGAAGA 0.597 NA 43 186 0 0 0.01441 0 0 ZNF677 342926 broad.mit.edu 37 19 53740556 53740556 + Nonsense_Mutation SNP C C T TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr19:53740556C>T uc002qbf.1 - 5 1609 c.1424G>A c.(1423-1425)TGG>TAG p.W475* ZNF677_uc002qbg.1_Nonsense_Mutation_p.W475* NM_182609 NP_872415 Q86XU0 ZN677_HUMAN zinc finger protein 677 475 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00352) CTGATGACCCCAAAGGTGTGA 0.363 NA 15 66 0 0 0.004007 0 0 PTPRH 5794 broad.mit.edu 37 19 55697831 55697831 + Splice_Site SNP C C A rs74901631 by1000genomes TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr19:55697831C>A uc002qjq.2 - 15 2716 c.2643_splice c.e15+1 p.P881_splice PTPRH_uc010esv.2_Splice_Site_p.P703_splice NM_002842 NP_002833 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) CACGACCTTACGGGCATGAAG 0.587 NA 26 80 5.45727e-16 8.40865e-16 0.008361 1 0 OTOF 9381 broad.mit.edu 37 2 26686972 26686972 + Missense_Mutation SNP G G T TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr2:26686972G>T uc002rhk.2 - 40 5090 c.4963C>A c.(4963-4965)CAG>AAG p.Q1655K OTOF_uc010yla.1_Missense_Mutation_p.Q385K|OTOF_uc002rhh.2_Missense_Mutation_p.Q888K|OTOF_uc002rhi.2_Missense_Mutation_p.Q965K|OTOF_uc002rhj.2_Missense_Mutation_p.Q888K NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 1655 Cytoplasmic (Potential). cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCTTCCTCTGACCTGTGGGT 0.567 GBM(102;732 1451 20652 24062 31372) NA 12 81 0.00316338 0.00348664 0.003163 1 0 ALK 238 broad.mit.edu 37 2 29455179 29455179 + Missense_Mutation SNP C C T rs148001139 TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr2:29455179C>T uc002rmy.2 - 15 3530 c.2623G>A c.(2623-2625)GGA>AGA p.G875R NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor 875 Gly-rich.|Extracellular (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1) 1218 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) CCTGCGGCTCCGGAATTGCCG 0.617 NA T|Mis|A NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4 ALCL|NSCLC|Neuroblastoma neuroblastoma Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 34 123 0 0 0.004878 0 0 ALK 238 broad.mit.edu 37 2 29606679 29606679 + Nonsense_Mutation SNP G G A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr2:29606679G>A uc002rmy.2 - 5 2108 c.1201C>T c.(1201-1203)CGA>TGA p.R401* NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor 401 MAM 1.|Extracellular (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.R401Q(1)|p.R401*(1) NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1) 1218 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) AGGGCCACTCGAAATGGGTTG 0.483 NA T|Mis|A NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4 ALCL|NSCLC|Neuroblastoma neuroblastoma Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 16 92 0 0 0.00499 0 0 SRD5A2 6716 broad.mit.edu 37 2 31805946 31805946 + Silent SNP G G A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr2:31805946G>A uc002rnw.1 - 1 95 c.24C>T c.(22-24)AGC>AGT p.S8S NM_000348 NP_000339 P31213 S5A2_HUMAN 3-oxo-5 alpha-steroid 4-dehydrogenase 2 8 Helical; (Potential). androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development endoplasmic reticulum membrane|integral to membrane|microsome 3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity 0 Acute lymphoblastic leukemia(172;0.155) Azelaic Acid(DB00548)|Dutasteride(DB01126) CCAGCACTGGGCTCTGCTGGC 0.682 NA 8 29 0 0 0.013537 0 0 C2orf78 388960 broad.mit.edu 37 2 74043183 74043183 + Missense_Mutation SNP A A T TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr2:74043183A>T uc002sjr.1 + 3 1954 c.1833A>T c.(1831-1833)CAA>CAT p.Q611H NM_001080474 NP_001073943 A6NCI8 CB078_HUMAN hypothetical protein LOC388960 611 Lys-rich. ovary(2) 2 AGAAAAATCAACCTGAGCTTA 0.448 NA 9 49 0 0 0.006214 0 0 POU3F3 5455 broad.mit.edu 37 2 105472206 105472206 + Missense_Mutation SNP G G T TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr2:105472206G>T uc010ywg.1 + 1 238 c.238G>T c.(238-240)GGG>TGG p.G80W NM_006236 NP_006227 P20264 PO3F3_HUMAN POU class 3 homeobox 3 80 Gly-rich. metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation nucleus sequence-specific DNA binding ovary(1) 1 CTTCATGCAGGGGGCCATGGC 0.552 NA 5 17 0.000157383 0.000180037 0.00308 1 0 ACTR3 10096 broad.mit.edu 37 2 114685027 114685027 + Missense_Mutation SNP C C G TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr2:114685027C>G uc002tkx.1 + 4 651 c.331C>G c.(331-333)CTT>GTT p.L111V ACTR3_uc010yyc.1_Missense_Mutation_p.L49V|ACTR3_uc010yyd.1_Missense_Mutation_p.L60V NM_005721 NP_005712 P61158 ARP3_HUMAN ARP3 actin-related protein 3 homolog 111 cellular component movement|cilium morphogenesis Arp2/3 protein complex actin binding|ATP binding skin(1) 1 CCATTATTTTCTTTTGGTAAG 0.308 NA 13 50 0 0 0.001855 0 0 TTN 7273 broad.mit.edu 37 2 179439161 179439161 + Missense_Mutation SNP G G A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr2:179439161G>A uc010zfg.1 - 275 64218 c.63994C>T c.(63994-63996)CGG>TGG p.R21332W uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R15027W|TTN_uc010zfi.1_Missense_Mutation_p.R14960W|TTN_uc010zfj.1_Missense_Mutation_p.R14835W NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 22259 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) GCAATCACCCGGAACTCATAA 0.453 NA 35 339 0 0 0.006999 0 0 CCDC150 284992 broad.mit.edu 37 2 197597246 197597246 + Missense_Mutation SNP C C T TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr2:197597246C>T uc002utp.1 + 28 3401 c.3266C>T c.(3265-3267)CCC>CTC p.P1089L CCDC150_uc010zgs.1_Missense_Mutation_p.P736L NM_001080539 NP_001074008 Q8NCX0 CC150_HUMAN coiled-coil domain containing 150 1089 0 AATCTTAGGCCCATGCCCAAG 0.443 NA 34 160 0 0 0.010771 0 0 ERBB4 2066 broad.mit.edu 37 2 212295790 212295790 + Missense_Mutation SNP A A T TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr2:212295790A>T uc002veg.1 - 21 2621 c.2523T>A c.(2521-2523)CAT>CAA p.H841Q ERBB4_uc002veh.1_Missense_Mutation_p.H841Q|ERBB4_uc010zji.1_Missense_Mutation_p.H831Q|ERBB4_uc010zjj.1_Missense_Mutation_p.H831Q NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 841 Protein kinase.|Cytoplasmic (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CCAAATCCCGATGAACGAGTC 0.398 NA TSP Lung(8;0.080) 10 127 0 0 0.001855 0 0 SLC11A1 6556 broad.mit.edu 37 2 219259426 219259426 + Missense_Mutation SNP A A G rs139317500 by1000genomes TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr2:219259426A>G uc002vhv.2 + 14 1800 c.1460A>G c.(1459-1461)TAT>TGT p.Y487C SLC11A1_uc010zkc.1_Missense_Mutation_p.Y420C|SLC11A1_uc002vhu.1_Missense_Mutation_p.Y282C|SLC11A1_uc002vhw.2_Missense_Mutation_p.Y369C|SLC11A1_uc010fvr.2_Missense_Mutation_p.Y282C NM_000578 NP_000569 P49279 NRAM1_HUMAN natural resistance-associated macrophage protein 487 Helical; (Potential). activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity ovary(3)|central_nervous_system(1) 4 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GTGGTCAGCTATCTGCCCAGC 0.622 NA 28 135 0 0 0.012213 0 0 MSL3L2 151507 broad.mit.edu 37 2 234775527 234775527 + Missense_Mutation SNP C C A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr2:234775527C>A uc010znf.1 - 2 553 c.315G>T c.(313-315)TTG>TTT p.L105F NR_024322 SubName: Full=cDNA FLJ52683, highly similar to Male-specific lethal 3-like 1; SubName: Full=cDNA, FLJ79271, highly similar to Male-specific lethal 3-like 1; SubName: Full=HCG1642047; 0 AGAGTAAAACCAACGGGAGAG 0.393 NA 7 47 7.48243e-07 9.11167e-07 0.006214 1 0 CHGB 1114 broad.mit.edu 37 20 5897563 5897563 + Missense_Mutation SNP C C T rs143107119 TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr20:5897563C>T uc002wmg.2 + 3 494 c.188C>T c.(187-189)ACG>ATG p.T63M CHGB_uc010zqz.1_Intron NM_001819 NP_001810 P05060 SCG1_HUMAN chromogranin B precursor 63 extracellular region hormone activity breast(3)|skin(2)|ovary(1) 6 GTCCTGAAGACGAGTAAGTGT 0.547 NA 24 84 0 0 0.005443 0 0 PAK7 57144 broad.mit.edu 37 20 9546720 9546720 + Silent SNP C C T TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr20:9546720C>T uc002wnl.2 - 6 1847 c.1302G>A c.(1300-1302)GCG>GCA p.A434A PAK7_uc002wnk.2_Silent_p.A434A|PAK7_uc002wnj.2_Silent_p.A434A|PAK7_uc010gby.1_Silent_p.A434A NM_020341 NP_065074 Q9P286 PAK7_HUMAN p21-activated kinase 7 434 Linker. ATP binding|protein binding|protein serine/threonine kinase activity lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1) 23 COAD - Colon adenocarcinoma(9;0.194) GCTGCAGGGCCGCCCGAAACT 0.632 NA 26 87 0 0 0.00333 0 0 PPP1R16B 26051 broad.mit.edu 37 20 37547102 37547102 + Missense_Mutation SNP C C G TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr20:37547102C>G uc002xje.2 + 11 1686 c.1497C>G c.(1495-1497)AGC>AGG p.S499R PPP1R16B_uc010ggc.2_Missense_Mutation_p.S457R NM_015568 NP_056383 Q96T49 PP16B_HUMAN protein phosphatase 1 regulatory inhibitor 499 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding upper_aerodigestive_tract(1)|kidney(1)|skin(1) 3 Myeloproliferative disorder(115;0.00878) CCTTCCTTAGCACACACCTGG 0.632 NA 13 45 0 0 0.001855 0 0 PRIC285 85441 broad.mit.edu 37 20 62191918 62191918 + Missense_Mutation SNP C C A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr20:62191918C>A uc002yfm.2 - 17 8306 c.7414G>T c.(7414-7416)GTG>TTG p.V2472L PRIC285_uc002yfl.1_Missense_Mutation_p.V1903L NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN PPAR-alpha interacting complex protein 285 2472 cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding central_nervous_system(2) 2 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) TGGCCCTGCACGTGGCCAAAG 0.632 NA 23 103 1.33986e-20 2.22329e-20 0.004656 1 0 ITPR1 3708 broad.mit.edu 37 3 4712560 4712560 + Silent SNP G G A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr3:4712560G>A uc003bqa.2 + 20 2502 c.2154G>A c.(2152-2154)CAG>CAA p.Q718Q ITPR1_uc010hca.1_Silent_p.Q703Q|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Silent_p.Q703Q NM_001099952 NP_001093422 Q14643 ITPR1_HUMAN inositol 1,4,5-triphosphate receptor, type 1 718 Cytoplasmic (Potential). activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1) 21 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) AATTGGCTCAGGATGCTAAAG 0.552 NA 4 15 0 0 0.009096 0 0 SCAP 22937 broad.mit.edu 37 3 47476594 47476594 + Silent SNP T T A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr3:47476594T>A uc003crh.1 - 3 411 c.156A>T c.(154-156)ACA>ACT p.T52T SCAP_uc011baz.1_5'UTR|SCAP_uc003crg.2_5'UTR NM_012235 NP_036367 Q12770 SCAP_HUMAN SREBF chaperone protein 52 Lumenal (By similarity). cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) CCACAGGTCCTGTTCCTGGCA 0.537 Pancreas(149;978 1908 29304 37806 46700) NA 19 63 0 0 0.010504 0 0 TMEM89 440955 broad.mit.edu 37 3 48659116 48659116 + Missense_Mutation SNP C C A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr3:48659116C>A uc011bbo.1 - 1 74 c.74G>T c.(73-75)AGA>ATA p.R25I NM_001008269 NP_001008270 A2RUT3 TMM89_HUMAN transmembrane protein 89 precursor 25 Extracellular (Potential). integral to membrane 0 BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) CCAGAGGGGTCTCGACCAGGC 0.662 NA 18 55 8.10497e-08 1.03716e-07 0.010504 1 0 FAM3D 131177 broad.mit.edu 37 3 58639474 58639474 + Silent SNP T T A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr3:58639474T>A uc003dkq.2 - 3 345 c.48A>T c.(46-48)ATA>ATT p.I16I NM_138805 NP_620160 Q96BQ1 FAM3D_HUMAN family with sequence similarity 3, member D 16 negative regulation of insulin secretion extracellular region cytokine activity 0 BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169) ATGTCGTGACTATGGCAAAGA 0.567 NA 27 102 0 0 0.005443 0 0 ROBO2 6092 broad.mit.edu 37 3 77651370 77651370 + Missense_Mutation SNP C C A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr3:77651370C>A uc003dpy.3 + 20 3507 c.2864C>A c.(2863-2865)CCA>CAA p.P955Q ROBO2_uc003dpz.2_Missense_Mutation_p.P959Q|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.P959Q|ROBO2_uc003dqa.2_Missense_Mutation_p.P82Q NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 955 Cytoplasmic (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) GATGTGCTGCCACCAGTTCCA 0.438 NA 14 80 6.94344e-10 9.36125e-10 0.006122 1 0 FBXO40 51725 broad.mit.edu 37 3 121341659 121341659 + Missense_Mutation SNP C C A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr3:121341659C>A uc003eeg.2 + 3 1593 c.1383C>A c.(1381-1383)AGC>AGA p.S461R NM_016298 NP_057382 Q9UH90 FBX40_HUMAN F-box protein 40 461 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(114;0.189) AGCTCCACAGCGAGTGTGTGA 0.527 NA 9 33 3.09899e-07 3.83563e-07 0.004482 1 0 CCRL1 51554 broad.mit.edu 37 3 132320031 132320031 + Missense_Mutation SNP G G T TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr3:132320031G>T uc003eow.2 + 2 873 c.790G>T c.(790-792)GCC>TCC p.A264S ACAD11_uc003eov.3_Intron|ACAD11_uc011blr.1_Intron|CCRL1_uc003eox.2_Missense_Mutation_p.A264S NM_016557 NP_057641 Q9NPB9 CCRL1_HUMAN chemokine (C-C motif) receptor-like 1 264 Extracellular (Potential). chemotaxis|immune response integral to plasma membrane C-C chemokine receptor activity 0 GTTCTGCCGAGCCATAGACAT 0.448 Pancreas(96;1505 1524 4501 17831 18121) NA 20 155 1.13719e-10 1.57537e-10 0.008361 1 0 BCHE 590 broad.mit.edu 37 3 165548821 165548821 + Missense_Mutation SNP T T G TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr3:165548821T>G uc003fem.3 - 2 161 c.1A>C c.(1-3)ATG>CTG p.M1L BCHE_uc003fen.3_Intron NM_000055 NP_000046 P06276 CHLE_HUMAN butyrylcholinesterase precursor 1 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding ovary(3)|pancreas(1) 4 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) TTGCTATGCATATTGATTTCT 0.308 NA 5 25 0 0 0.000602 0 0 ATP11B 23200 broad.mit.edu 37 3 182584182 182584182 + Missense_Mutation SNP T T C TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr3:182584182T>C uc003flb.2 + 14 1827 c.1570T>C c.(1570-1572)TAC>CAC p.Y524H ATP11B_uc003flc.2_Missense_Mutation_p.Y108H NM_014616 NP_055431 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B 524 Cytoplasmic (Potential). aminophospholipid transport|ATP biosynthetic process integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) GCAGTTGGAGTACTATGCATC 0.433 NA 11 127 0 0 0.013537 0 0 WDFY3 23001 broad.mit.edu 37 4 85748131 85748131 + Missense_Mutation SNP C C A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr4:85748131C>A uc003hpd.2 - 10 1368 c.960G>T c.(958-960)TTG>TTT p.L320F WDFY3_uc003hpf.2_Missense_Mutation_p.L320F NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 320 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TTGCTTGTTCCAATCTAGAAA 0.313 NA 17 86 4.96729e-08 6.46604e-08 0.008871 1 0 SH3D19 152503 broad.mit.edu 37 4 152048799 152048799 + Missense_Mutation SNP C C A rs146787893 TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr4:152048799C>A uc010ipl.1 - 20 3317 c.2227G>T c.(2227-2229)GGG>TGG p.G743W SH3D19_uc003imb.2_Missense_Mutation_p.G498W|SH3D19_uc003imc.2_Missense_Mutation_p.G684W|SH3D19_uc003ime.2_Missense_Mutation_p.G720W|SH3D19_uc010ipm.2_Missense_Mutation_p.G720W NM_001009555 NP_001009555 Q5HYK7 SH319_HUMAN SH3 domain containing 19 isoform a 743 SH3 5. 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) TCATTCTCCCCTCGGAAATCA 0.363 NA 7 41 1.08611e-07 1.37817e-07 0.010729 1 0 TRIML1 339976 broad.mit.edu 37 4 189068081 189068081 + Missense_Mutation SNP C C T TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr4:189068081C>T uc003izm.1 + 6 1077 c.962C>T c.(961-963)CCG>CTG p.P321L TRIML1_uc003izn.1_Missense_Mutation_p.P45L NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 321 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding ovary(1)|pancreas(1)|breast(1)|skin(1) 4 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) CCCGACAACCCGGAAAGATTT 0.537 Melanoma(31;213 1036 16579 23968 32372) NA 31 80 0 0 0.013726 0 0 CCDC127 133957 broad.mit.edu 37 5 205868 205868 + Missense_Mutation SNP C C A rs147467162 TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr5:205868C>A uc003jam.1 - 3 427 c.327G>T c.(325-327)CAG>CAT p.Q109H NM_145265 NP_660308 Q96BQ5 CC127_HUMAN coiled-coil domain containing 127 109 Potential. 0 all cancers(22;0.0236)|Lung(60;0.113) ACTTGCGTCCCTGAGAGATAA 0.478 NA 15 41 2.23348e-06 2.63481e-06 0.004007 1 0 WDR36 134430 broad.mit.edu 37 5 110441783 110441783 + Missense_Mutation SNP G G A rs145743089 TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr5:110441783G>A uc003kpd.2 + 11 1406 c.1289G>A c.(1288-1290)CGT>CAT p.R430H WDR36_uc010jbu.2_RNA NM_139281 NP_644810 Q8NI36 WDR36_HUMAN WD repeat domain 36 430 response to stimulus|rRNA processing|visual perception small-subunit processome ovary(1)|skin(1) 2 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) AGAGTTAAACGTAAAGGACTT 0.353 NA 6 110 0 0 0.001984 0 0 SNCAIP 9627 broad.mit.edu 37 5 121786347 121786347 + Nonsense_Mutation SNP C C A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr5:121786347C>A uc003ksw.1 + 10 2011 c.1805C>A c.(1804-1806)TCA>TAA p.S602* SNCAIP_uc011cwl.1_Nonsense_Mutation_p.S160*|SNCAIP_uc003ksx.1_Nonsense_Mutation_p.S649*|SNCAIP_uc003ksy.1_Nonsense_Mutation_p.S236*|SNCAIP_uc003ksz.1_Nonsense_Mutation_p.S236*|SNCAIP_uc010jcu.2_Nonsense_Mutation_p.S198*|SNCAIP_uc011cwm.1_Nonsense_Mutation_p.S236*|SNCAIP_uc003kta.1_Nonsense_Mutation_p.S234*|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Nonsense_Mutation_p.S296*|SNCAIP_uc010jcx.1_Nonsense_Mutation_p.S542*|uc003ktb.1_RNA|SNCAIP_uc003ktc.1_Nonsense_Mutation_p.S118* NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN synuclein alpha interacting protein 602 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding ovary(1)|pancreas(1) 2 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) GGAAGCCTGTCAGCCTCCAGC 0.473 NA 21 61 3.51602e-12 5.10499e-12 0.008871 1 0 PCDHB7 56129 broad.mit.edu 37 5 140553136 140553136 + Silent SNP T T C TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr5:140553136T>C uc003lit.2 + 1 894 c.720T>C c.(718-720)CCT>CCC p.P240P NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 240 Extracellular (Potential).|Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACAACGCCCCTGATTTTGTGC 0.537 NA 3 75 0 0 0.004672 0 0 PCDHB12 56124 broad.mit.edu 37 5 140590121 140590121 + Missense_Mutation SNP C C A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr5:140590121C>A uc003liz.2 + 1 1831 c.1642C>A c.(1642-1644)CGC>AGC p.R548S PCDHB12_uc011dak.1_Missense_Mutation_p.R211S NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 548 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGCGCTGGTGCGCGTGCTGGT 0.706 NA 15 59 3.32936e-07 4.08726e-07 0.006122 1 0 PCDHB15 56121 broad.mit.edu 37 5 140625391 140625391 + Missense_Mutation SNP G G A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr5:140625391G>A uc003lje.2 + 1 245 c.245G>A c.(244-246)GGG>GAG p.G82E NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN protocadherin beta 15 precursor 82 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) CTGCAGACCGGGCAGTTGATA 0.527 NA 11 70 0 0 0.001855 0 0 HIST1H2AA 221613 broad.mit.edu 37 6 25726547 25726547 + Missense_Mutation SNP G G T TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr6:25726547G>T uc003nfc.2 - 1 244 c.209C>A c.(208-210)GCG>GAG p.A70E HIST1H2BA_uc003nfd.2_5'Flank NM_170745 NP_734466 Q96QV6 H2A1A_HUMAN histone cluster 1, H2aa 70 nucleosome assembly nucleosome|nucleus DNA binding 0 ATCGCGAGACGCATTGCCTGC 0.517 NA 14 74 9.31168e-06 1.08159e-05 0.001855 1 0 CUL9 23113 broad.mit.edu 37 6 43154806 43154806 + Missense_Mutation SNP G G T rs145250491 by1000genomes TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr6:43154806G>T uc003ouk.2 + 5 1435 c.1360G>T c.(1360-1362)GGG>TGG p.G454W CUL9_uc003ouj.1_Intron|CUL9_uc003oul.2_Missense_Mutation_p.G454W|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_5'UTR NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 454 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1) 12 TGTGGAGAAGGGGGCAGGGGC 0.572 NA 12 26 3.07112e-06 3.59487e-06 0.010729 1 0 IMPG1 3617 broad.mit.edu 37 6 76713658 76713658 + Missense_Mutation SNP C C T TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr6:76713658C>T uc003pik.1 - 11 1275 c.1145G>A c.(1144-1146)GGA>GAA p.G382E NM_001563 NP_001554 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 382 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) TGGCAGTGATCCAGCAATTTC 0.393 Pancreas(37;839 1141 2599 26037) NA 13 47 0 0 0.00499 0 0 ENPP1 5167 broad.mit.edu 37 6 132211538 132211538 + Missense_Mutation SNP A A G TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr6:132211538A>G uc011ecf.1 + 25 2685 c.2665A>G c.(2665-2667)ATC>GTC p.I889V NM_006208 NP_006199 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 889 Nuclease.|Extracellular (Potential). 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity upper_aerodigestive_tract(2)|ovary(2) 4 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) CAGAGCACGGATCACAGATGT 0.383 Colon(104;336 1535 5856 11019 33782) NA 12 105 0 0 0.003163 0 0 TIAM2 26230 broad.mit.edu 37 6 155458593 155458593 + Missense_Mutation SNP C C A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr6:155458593C>A uc003qqb.2 + 7 2750 c.1477C>A c.(1477-1479)CTG>ATG p.L493M TIAM2_uc003qqe.2_Missense_Mutation_p.L493M|TIAM2_uc010kjj.2_Missense_Mutation_p.L26M NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 493 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) ACTCAGCTCTCTGGAACAGCT 0.527 NA 26 123 2.61193e-14 3.90497e-14 0.009535 1 0 NOX3 50508 broad.mit.edu 37 6 155776234 155776235 + Missense_Mutation DNP CA CA AG TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 CA CA - - CA CA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr6:155776234_155776235CA>AG uc003qqm.2 - 2 180_181 c.77_78TG>CT c.(76-78)CTG>CCT p.L26P NM_015718 NP_056533 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 26 Helical; (Potential). electron carrier activity|flavin adenine dinucleotide binding|iron ion binding ovary(1) 1 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) TGTCAATAAACAGATAAAAATT 0.347 NA 12 42 0 0 0.004672 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31123774 31123774 + Missense_Mutation SNP G G T TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr7:31123774G>T uc003tca.1 + 7 570 c.347G>T c.(346-348)CGG>CTG p.R116L ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.R95L|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.R116L|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.R116L|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.R116L|ADCYAP1R1_uc003tcf.1_5'Flank NM_001118 NP_001109 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 116 Extracellular (Potential). activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity ovary(1) 1 GTGGTGAGCCGGAACTGCACG 0.483 Ovarian(44;225 1186 2158 11092) NA 11 68 6.72482e-11 9.4023e-11 0.003163 1 0 ZNF479 90827 broad.mit.edu 37 7 57187809 57187809 + Missense_Mutation SNP T T G TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr7:57187809T>G uc010kzo.2 - 5 1584 c.1313A>C c.(1312-1314)AAA>ACA p.K438T NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 438 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) TTCTTCACATTTGTAGGGTCT 0.453 NA 5 103 0 0 0.006214 0 0 BHLHA15 168620 broad.mit.edu 37 7 97841993 97841993 + Silent SNP C C T TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr7:97841993C>T uc003upe.1 + 2 459 c.372C>T c.(370-372)ATC>ATT p.I124I BHLHA15_uc003upf.1_Silent_p.I124I NM_177455 NP_803238 Q7RTS1 BHA15_HUMAN basic helix-loop-helix family, member a15 124 Helix-loop-helix motif. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 AGAACTACATCAAATCGCTGA 0.622 NA 3 2 0 0 0.004672 0 0 ADAM18 8749 broad.mit.edu 37 8 39467017 39467017 + Missense_Mutation SNP A A T TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr8:39467017A>T uc003xni.2 + 5 281 c.281A>T c.(280-282)TAC>TTC p.Y94F ADAM18_uc003xnh.2_Missense_Mutation_p.Y94F|ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.Y94F NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN a disintegrin and metalloprotease domain 18 94 cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1) 6 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) CATTGCCATTACCAAGGATAT 0.323 NA 16 62 0 0 0.008871 0 0 TM7SF4 81501 broad.mit.edu 37 8 105361635 105361635 + Silent SNP G G A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr8:105361635G>A uc003ylx.1 + 2 904 c.855G>A c.(853-855)CCG>CCA p.P285P NM_030788 NP_110415 Q9H295 TM7S4_HUMAN dendritic cell-specific transmembrane protein 285 osteoclast differentiation cell surface|integral to membrane|plasma membrane pancreas(2)|large_intestine(1)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CTTTCTGGCCGACTCCTAAAG 0.478 NA 4 87 0 0 0.009096 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110498976 110498976 + Missense_Mutation SNP C C A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr8:110498976C>A uc003yne.2 + 59 9910 c.9806C>A c.(9805-9807)CCC>CAC p.P3269H NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 3269 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GAAGATTACCCCGGTTGGTCT 0.423 NA HNSCC(38;0.096) 41 244 1.6237e-14 2.45178e-14 0.013114 1 0 PLEC 5339 broad.mit.edu 37 8 144991090 144991090 + Missense_Mutation SNP C C T TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr8:144991090C>T uc003zaf.1 - 32 13480 c.13310G>A c.(13309-13311)CGG>CAG p.R4437Q PLEC_uc003zab.1_Missense_Mutation_p.R4300Q|PLEC_uc003zac.1_Missense_Mutation_p.R4304Q|PLEC_uc003zad.2_Missense_Mutation_p.R4300Q|PLEC_uc003zae.1_Missense_Mutation_p.R4268Q|PLEC_uc003zag.1_Missense_Mutation_p.R4278Q|PLEC_uc003zah.2_Missense_Mutation_p.R4286Q|PLEC_uc003zaj.2_Missense_Mutation_p.R4327Q NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 4437 Globular 2.|Plectin 29. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 CACCAGGTTCCGGTGCATGGC 0.677 NA 5 57 0 0 0.000602 0 0 TTC39B 158219 broad.mit.edu 37 9 15185366 15185366 + Missense_Mutation SNP G G A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr9:15185366G>A uc003zlr.1 - 16 1449 c.1328C>T c.(1327-1329)TCT>TTT p.S443F TTC39B_uc003zlq.1_Missense_Mutation_p.S412F|TTC39B_uc011lmp.1_Missense_Mutation_p.S344F|TTC39B_uc010mie.1_Missense_Mutation_p.S441F|TTC39B_uc011lmq.1_Missense_Mutation_p.S430F|TTC39B_uc011lmr.1_Missense_Mutation_p.S374F|TTC39B_uc003zlp.1_Missense_Mutation_p.S26F NM_152574 NP_689787 Q5VTQ0 TT39B_HUMAN tetratricopeptide repeat domain 39B 443 binding ovary(1) 1 AGTAGGGATAGATTTCCCGGC 0.512 NA 25 130 0 0 0.010818 0 0 PPEF1 5475 broad.mit.edu 37 X 18775846 18775846 + Missense_Mutation SNP G G T TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chrX:18775846G>T uc004cyq.2 + 8 979 c.498G>T c.(496-498)GAG>GAT p.E166D PPEF1_uc004cyp.2_Missense_Mutation_p.E166D|PPEF1_uc004cyr.2_Missense_Mutation_p.E166D|PPEF1_uc004cys.2_Missense_Mutation_p.E166D|PPEF1_uc011mja.1_Missense_Mutation_p.E101D|PPEF1_uc011mjb.1_Missense_Mutation_p.E110D NM_006240 NP_006231 O14829 PPE1_HUMAN protein phosphatase with EF hand calcium-binding 166 Catalytic. detection of stimulus involved in sensory perception|protein dephosphorylation calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity 0 Hepatocellular(33;0.183) CCTCCAAAGAGGTAACAATCT 0.393 NA 32 128 1.61788e-16 2.51855e-16 0.012213 1 0 PFKFB1 5207 broad.mit.edu 37 X 54989698 54989698 + Missense_Mutation SNP G G T TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chrX:54989698G>T uc004dty.1 - 2 286 c.215C>A c.(214-216)CCA>CAA p.P72Q PFKFB1_uc010nkd.1_Missense_Mutation_p.P80Q|PFKFB1_uc011mol.1_Intron NM_002625 NP_002616 P16118 F261_HUMAN 6-phosphofructo-2-kinase/fructose-2, 72 6-phosphofructo-2-kinase. energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding ovary(1) 1 ACCTTTAGTTGGTGTTCCTAT 0.448 NA 57 238 1.37693e-34 2.31019e-34 0.01441 1 0 NHSL2 340527 broad.mit.edu 37 X 71360515 71360515 + Silent SNP G G A rs147793067 TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chrX:71360515G>A uc011mqa.1 + 6 3117 c.3117G>A c.(3115-3117)CTG>CTA p.L1039L NHSL2_uc004eak.1_Silent_p.L673L|NHSL2_uc010nli.2_Silent_p.L808L NM_001013627 NP_001013649 Q5HYW2 NHSL2_HUMAN NHS-like 2 1039 0 Renal(35;0.156) TCATCACCCTGGAGGAAGACA 0.567 NA 7 50 0 0 0.001984 0 0 SATL1 340562 broad.mit.edu 37 X 84362763 84362763 + Silent SNP T T A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chrX:84362763T>A uc011mqx.1 - 1 1212 c.1212A>T c.(1210-1212)TCA>TCT p.S404S SATL1_uc004een.2_Silent_p.S404S NM_001163541 NP_001157013 Q86VE3 SATL1_HUMAN spermidine/spermine N1-acetyl transferase-like 1 217 Gln-rich. N-acetyltransferase activity breast(2) 2 GGCTTGTGCCTGATTGGCTGG 0.537 NA 39 95 0 0 0.007835 0 0 GPR50 9248 broad.mit.edu 37 X 150349245 150349245 + Missense_Mutation SNP G G A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chrX:150349245G>A uc010ntg.1 + 2 1325 c.1190G>A c.(1189-1191)CGC>CAC p.R397H uc004fes.1_5'Flank NM_004224 NP_004215 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 397 Cytoplasmic (Potential).|Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) TCTGCCTATCGCAAATCTGCC 0.582 NA 48 166 0 0 0.01441 0 0 PLXNA3 55558 broad.mit.edu 37 X 153696202 153696202 + Silent SNP G G T TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chrX:153696202G>T uc004flm.2 + 21 3851 c.3678G>T c.(3676-3678)GCG>GCT p.A1226A NM_017514 NP_059984 P51805 PLXA3_HUMAN plexin A3 precursor 1226 Helical; (Potential). axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GGCTGGCGGCGGGGGGTGGGC 0.687 NA 14 52 1.99824e-07 2.49367e-07 0.00499 1 0 OR2M2 391194 broad.mit.edu 37 1 248343596 248343597 + Frame_Shift_Ins INS - - TA TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr1:248343596_248343597insTA uc010pzf.1 + 1 309_310 c.309_310insTA c.(307-312)TTCTATfs p.F103fs NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, 103_104 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) AAATTTTCTTCTATATATCACT 0.431 NA 11 434 --- --- --- --- NA NA NA NA NA FAR2 55711 broad.mit.edu 37 12 29450110 29450110 + Frame_Shift_Del DEL A A - TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr12:29450110delA uc001ris.3 + 4 669 c.522delA c.(520-522)CCAfs p.P174fs FAR2_uc001rit.2_Frame_Shift_Del_p.P174fs|FAR2_uc009zjm.2_Frame_Shift_Del_p.P77fs|uc001riu.1_Intron NM_018099 NP_060569 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 174 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor 0 CTGTGGAGCCAAAAAAAATCA 0.388 NA 7 294 --- --- --- --- NA NA NA NA NA FDXR 2232 broad.mit.edu 37 17 72862664 72862665 + Frame_Shift_Del DEL CG CG - rs141174234 TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 CG CG - - CG CG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr17:72862664_72862665delCG uc002jly.2 - 4 383_384 c.296_297delCG c.(295-297)ACGfs p.T99fs FDXR_uc010wri.1_Frame_Shift_Del_p.T47fs|FDXR_uc010wrj.1_Frame_Shift_Del_p.T97fs|FDXR_uc002jlw.2_5'UTR|FDXR_uc002jlx.2_Frame_Shift_Del_p.T99fs|FDXR_uc002jmc.2_Frame_Shift_Del_p.T100fs|FDXR_uc010wrk.1_Frame_Shift_Del_p.T130fs|FDXR_uc010wrl.1_Frame_Shift_Del_p.T142fs|FDXR_uc002jma.2_Frame_Shift_Del_p.T100fs|FDXR_uc010wrm.1_Intron|FDXR_uc002jlz.2_Frame_Shift_Del_p.T91fs|FDXR_uc002jmb.2_RNA NM_024417 NP_077728 P22570 ADRO_HUMAN ferredoxin reductase isoform 1 precursor 99 cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport mitochondrial matrix ferredoxin-NADP+ reductase activity|protein binding 0 all_lung(278;0.172)|Lung NSC(278;0.207) CAGAATGGGCCGTCTGGGTAAA 0.639 NA 7 71 --- --- --- --- NA NA NA NA NA TMEM90B 79953 broad.mit.edu 37 20 24524183 24524185 + In_Frame_Del DEL GGA GGA - TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 GGA GGA - - GGA GGA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr20:24524183_24524185delGGA uc002wtw.1 + 2 1083_1085 c.450_452delGGA c.(448-453)GTGGAG>GTG p.E155del NM_024893 NP_079169 Q9H7V2 SYNG1_HUMAN transmembrane protein 90B 155 Poly-Glu.|Cytoplasmic (Potential). response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane 0 CCTACGATGTGGAGGAGGAGGAG 0.547 NA 7 310 --- --- --- --- NA NA NA NA NA EGF 1950 broad.mit.edu 37 4 110883117 110883120 + Frame_Shift_Del DEL GAGA GAGA - TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 GAGA GAGA - - GAGA GAGA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr4:110883117_110883120delGAGA uc003hzy.3 + 8 1740_1743 c.1288_1291delGAGA c.(1288-1293)GAGAGAfs p.E430fs EGF_uc011cfu.1_Frame_Shift_Del_p.E388fs|EGF_uc011cfv.1_Frame_Shift_Del_p.E430fs NM_001963 NP_001954 P01133 EGF_HUMAN epidermal growth factor precursor 430_431 EGF-like 3.|Extracellular (Potential). angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) CTCAGTGCTTGAGAGAGATGGGAA 0.397 NA 9 232 --- --- --- --- NA NA NA NA NA BHLHA15 168620 broad.mit.edu 37 7 97842081 97842083 + In_Frame_Del DEL CAG CAG - TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 CAG CAG - - CAG CAG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq be345756-62d1-4c2f-a2f2-fceb95f13364 d97318e0-a7ec-44e9-a46d-ef62081afc05 g.chr7:97842081_97842083delCAG uc003upe.1 + 2 547_549 c.460_462delCAG c.(460-462)CAGdel p.Q158del BHLHA15_uc003upf.1_In_Frame_Del_p.Q158del NM_177455 NP_803238 Q7RTS1 BHA15_HUMAN basic helix-loop-helix family, member a15 158 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 CCAGCACTACCAGCAGCAGCAGC 0.665 NA 2 4 --- --- --- --- NA NA NA NA NA