Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample PQLC2 54896 broad.mit.edu 37 1 19653755 19653755 + Missense_Mutation SNP C C G TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr1:19653755C>G uc001bby.2 + 8 1005 c.653C>G c.(652-654)TCT>TGT p.S218C PQLC2_uc001bbz.2_Missense_Mutation_p.S153C|PQLC2_uc001bca.2_Missense_Mutation_p.S218C|PQLC2_uc001bcb.2_Missense_Mutation_p.S107C|PQLC2_uc001bcc.2_Missense_Mutation_p.S107C NM_017765 NP_060235 Q6ZP29 PQLC2_HUMAN PQ loop repeat containing 2 isoform 1 218 PQ-loop 2.|Helical; (Potential). integral to membrane 0 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) ATCTCCTACTCTCTGTTCGCG 0.527 NaN 0 0 0 0.080935 0 9 81 HDAC1 3065 broad.mit.edu 37 1 32797278 32797278 + Nonsense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr1:32797278C>T uc001bvb.1 + 11 1153 c.1090C>T c.(1090-1092)CAG>TAG p.Q364* HDAC1_uc010ohf.1_Nonsense_Mutation_p.Q335*|HDAC1_uc001bvc.1_Nonsense_Mutation_p.Q120* NM_004964 NP_004955 Q13547 HDAC1_HUMAN histone deacetylase 1 364 anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter cytosol|NuRD complex|Sin3 complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity ovary(1)|lung(1)|breast(1) 3 Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113) KIRC - Kidney renal clear cell carcinoma(1967;0.138) Vorinostat(DB02546) TGGCCACAGACAGCGACTGTT 0.552 NaN 0 0 0 0.125774 0 26 89 CYP4Z1 199974 broad.mit.edu 37 1 47583503 47583503 + Missense_Mutation SNP G G T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr1:47583503G>T uc001cqu.1 + 12 1418 c.1415G>T c.(1414-1416)CGC>CTC p.R472L NM_178134 NP_835235 Q86W10 CP4Z1_HUMAN cytochrome P450 4Z1 472 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding skin(1) 1 ACTCTGCTCCGCTTCAAGCTG 0.468 NaN 1 0 9.7654e-05 0.043863 0.000105708 19 35 HAO2 51179 broad.mit.edu 37 1 119923746 119923746 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr1:119923746C>T uc001ehq.1 + 3 390 c.38C>T c.(37-39)GCG>GTG p.A13V HAO2_uc001ehr.1_Missense_Mutation_p.A13V NM_001005783 NP_001005783 Q9NYQ3 HAOX2_HUMAN hydroxyacid oxidase 2 13 FMN hydroxy acid dehydrogenase. fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity ovary(2)|skin(2) 4 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) CAGGCCCATGCGCGAGAGCAG 0.473 NaN 0 0 0 0.014758 0 4 144 SEC22B 9554 broad.mit.edu 37 1 145103956 145103956 + Nonsense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr1:145103956C>T uc001eml.1 + 4 264 c.124C>T c.(124-126)CGA>TGA p.R42* NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron NM_004892 NP_004883 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B 42 Longin.|Cytoplasmic (Potential). ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding 0 GTAACTCTTTCGAAAGTTGAA 0.388 NaN 0 0 0 0.014758 0 3 20 SNX27 81609 broad.mit.edu 37 1 151655862 151655862 + Missense_Mutation SNP A A G TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr1:151655862A>G uc001eyn.1 + 8 1196 c.1180A>G c.(1180-1182)AAA>GAA p.K394E SNX27_uc001eyo.2_Missense_Mutation_p.K301E|SNX27_uc001eyp.2_Missense_Mutation_p.K208E NM_030918 NP_112180 Q96L92 SNX27_HUMAN sorting nexin family member 27 394 cell communication|protein transport|signal transduction cytosol|early endosome phosphatidylinositol binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) AGGTTACATCAAAGCAGAAGA 0.358 NaN 0 0 0 0.058154 0 8 23 RGS5 8490 broad.mit.edu 37 1 163117208 163117208 + Missense_Mutation SNP C C G TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr1:163117208C>G uc001gcn.2 - 5 717 c.470G>C c.(469-471)AGA>ACA p.R157T RGS5_uc009wvb.2_RNA NM_003617 NP_003608 O15539 RGS5_HUMAN regulator of G-protein signalling 5 157 RGS. negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|plasma membrane GTPase activator activity|signal transducer activity 0 LUSC - Lung squamous cell carcinoma(543;0.187) GGCATGGATTCTTTTCTGGGC 0.453 NaN 0 0 0 0.049695 0 20 46 HMCN1 83872 broad.mit.edu 37 1 186024541 186024541 + Silent SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr1:186024541C>T uc001grq.1 + 45 7108 c.6879C>T c.(6877-6879)ACC>ACT p.T2293T NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 2293 Ig-like C2-type 21. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 CAACCATAACCAACAGTGGCA 0.443 NaN 0 0 0 0.062417 0 19 37 SIPA1L2 57568 broad.mit.edu 37 1 232601037 232601037 + Missense_Mutation SNP G G A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr1:232601037G>A uc001hvg.2 - 7 2527 c.2369C>T c.(2368-2370)GCA>GTA p.A790V SIPA1L2_uc001hvf.2_5'Flank NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 790 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) TTTATGGGCTGCATTTTCTGC 0.488 NaN 0 0 0 0.014758 0 4 138 LYST 1130 broad.mit.edu 37 1 235952067 235952067 + Missense_Mutation SNP G G A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr1:235952067G>A uc001hxj.2 - 13 4797 c.4622C>T c.(4621-4623)TCA>TTA p.S1541L LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 1541 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) GGATCCCAGTGAAATTATATG 0.408 NaN Chediak-Higashi_syndrome 0 0 0 0.069234 0 11 20 HEATR1 55127 broad.mit.edu 37 1 236716940 236716940 + Missense_Mutation SNP A A G TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr1:236716940A>G uc001hyd.1 - 43 6303 c.6178T>C c.(6178-6180)TCT>CCT p.S2060P HEATR1_uc009xgh.1_Missense_Mutation_p.S1222P NM_018072 NP_060542 Q9H583 HEAT1_HUMAN protein BAP28 2060 rRNA processing nucleolus|ribonucleoprotein complex protein binding ovary(2)|skin(1) 3 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TTCCAAAGAGAGTCATCCGCC 0.493 NaN 0 0 0 0.050027 0 16 55 HEATR1 55127 broad.mit.edu 37 1 236716964 236716964 + Missense_Mutation SNP A A G TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr1:236716964A>G uc001hyd.1 - 43 6279 c.6154T>C c.(6154-6156)TTT>CTT p.F2052L HEATR1_uc009xgh.1_Missense_Mutation_p.F1214L NM_018072 NP_060542 Q9H583 HEAT1_HUMAN protein BAP28 2052 rRNA processing nucleolus|ribonucleoprotein complex protein binding ovary(2)|skin(1) 3 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) GCCACCGAAAACTGTGCGATG 0.493 NaN 0 0 0 0.080422 0 19 58 OR2T33 391195 broad.mit.edu 37 1 248436878 248436878 + Missense_Mutation SNP G G A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr1:248436878G>A uc010pzi.1 - 1 239 c.239C>T c.(238-240)GCG>GTG p.A80V NM_001004695 NP_001004695 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, 80 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GTAGTCAGCCGCCATTTTGGG 0.567 NaN 0 0 0 0.139131 0 51 163 RPP38 10557 broad.mit.edu 37 10 15145354 15145354 + Missense_Mutation SNP G G A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr10:15145354G>A uc001iny.3 + 3 754 c.41G>A c.(40-42)CGT>CAT p.R14H RPP38_uc009xjm.2_Missense_Mutation_p.R14H|RPP38_uc001inx.3_Missense_Mutation_p.R14H NM_183005 NP_892117 P78345 RPP38_HUMAN ribonuclease P/MRP 38 subunit 14 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity ovary(1) 1 GGATCTCTCCGTAAGACGAGA 0.498 NaN 0 0 0 0.099896 0 26 70 NPFFR1 64106 broad.mit.edu 37 10 72026088 72026088 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr10:72026088C>T uc010qjk.1 - 1 67 c.61G>A c.(61-63)GAG>AAG p.E21K NM_022146 NP_071429 Q9GZQ6 NPFF1_HUMAN neuropeptide FF receptor 1 23 Extracellular (Potential). integral to membrane|plasma membrane neuropeptide receptor activity 0 GGGGTGGCCTCAGTGTTAGTC 0.557 NaN 0 0 0 0.014758 0 5 27 DNTT 1791 broad.mit.edu 37 10 98078110 98078110 + Missense_Mutation SNP G G A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr10:98078110G>A uc001kmf.2 + 2 375 c.205G>A c.(205-207)GAT>AAT p.D69N DNTT_uc001kmg.2_Missense_Mutation_p.D69N NM_004088 NP_004079 P04053 TDT_HUMAN terminal deoxynucleotidyltransferase isoform 1 69 BRCT. DNA modification nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding ovary(1) 1 Colorectal(252;0.0815)|all_hematologic(284;0.224) Epithelial(162;7.97e-08)|all cancers(201;1.89e-06) ATTTTGCAGTGATTCTGTCAC 0.458 NaN 0 0 0 0.139131 0 55 83 SORCS1 114815 broad.mit.edu 37 10 108380301 108380301 + Missense_Mutation SNP T T C TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr10:108380301T>C uc001kym.2 - 20 2689 c.2681A>G c.(2680-2682)CAC>CGC p.H894R SORCS1_uc001kyl.2_Missense_Mutation_p.H894R|SORCS1_uc009xxs.2_Missense_Mutation_p.H894R|SORCS1_uc001kyn.1_Missense_Mutation_p.H894R|SORCS1_uc001kyo.2_Missense_Mutation_p.H894R NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 894 Lumenal (Potential).|PKD. integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) AAGAGACAGGTGCACGTGCTC 0.557 NaN 0 0 0 0.0333 0 17 30 INPP5A 3632 broad.mit.edu 37 10 134563026 134563026 + Silent SNP C C G TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr10:134563026C>G uc001llp.2 + 10 986 c.738C>G c.(736-738)CTC>CTG p.L246L INPP5A_uc001llo.1_Silent_p.L246L|INPP5A_uc001llq.2_Intron NM_005539 NP_005530 Q14642 I5P1_HUMAN inositol polyphosphate-5-phosphatase A 246 cell communication membrane inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding skin(1) 1 all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326) TGCAGACGCTCTGCACAAAAG 0.612 NaN 0 0 0 0.099896 0 23 47 QSER1 79832 broad.mit.edu 37 11 32994985 32994985 + Missense_Mutation SNP G G A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr11:32994985G>A uc001mty.2 + 11 5128 c.4861G>A c.(4861-4863)GAT>AAT p.D1621N QSER1_uc001mtz.1_Missense_Mutation_p.D1382N|QSER1_uc001mua.2_Missense_Mutation_p.D1126N NM_001076786 NP_001070254 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 1621 ovary(3)|central_nervous_system(2)|skin(1) 6 Breast(20;0.158) AATTACTCGAGATTCTAAAGC 0.333 NaN 0 0 0 0.069288 0 23 30 TYR 7299 broad.mit.edu 37 11 88911384 88911384 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr11:88911384C>T uc001pcs.2 + 1 345 c.263C>T c.(262-264)ACC>ATC p.T88I NM_000372 NP_000363 P14679 TYRO_HUMAN tyrosinase precursor 88 Lumenal, melanosome (Potential). eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) TATAATAGGACCTGCCAGTGC 0.502 NaN Oculocutaneous_Albinism 0 0 0 0.047766 0 9 36 KCNA6 3742 broad.mit.edu 37 12 4919301 4919301 + Missense_Mutation SNP G G A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr12:4919301G>A uc001qng.2 + 1 960 c.94G>A c.(94-96)GGC>AGC p.G32S NM_002235 NP_002226 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related 32 voltage-gated potassium channel complex voltage-gated potassium channel activity skin(2)|ovary(1) 3 CCCGGAGGCCGGCGGGGGCGG 0.662 NaN HNSCC(72;0.22) 0 0 0 0.045705 0 27 56 SP1 6667 broad.mit.edu 37 12 53776442 53776442 + Silent SNP C C G TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr12:53776442C>G uc001scw.2 + 3 808 c.711C>G c.(709-711)CCC>CCG p.P237P SP1_uc010sog.1_Silent_p.P230P NM_138473 NP_612482 P08047 SP1_HUMAN Sp1 transcription factor isoform a 237 Transactivation domain A (Gln-rich). positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter cytoplasm double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(357;0.00527) AGGCTGTCCCCCTCCAAGGCC 0.488 NaN 0 0 0 0.069288 0 24 61 C12orf45 121053 broad.mit.edu 37 12 105381948 105381948 + Missense_Mutation SNP T T A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr12:105381948T>A uc001tlb.2 + 2 152 c.119T>A c.(118-120)ATA>AAA p.I40K NM_152318 NP_689531 Q8N5I9 CL045_HUMAN hypothetical protein LOC121053 40 0 TTTTCAGGTATATGGGACAGG 0.438 NaN 0 0 0 0.02938 0 7 10 NBEA 26960 broad.mit.edu 37 13 36026232 36026232 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr13:36026232C>T uc001uvb.2 + 40 6514 c.6308C>T c.(6307-6309)ACG>ATG p.T2103M NBEA_uc010abi.2_Missense_Mutation_p.T759M NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 2103 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TGATTAGGCACGGAAGAAGAT 0.308 NaN 0 0 0 0.09319 0 9 12 MIPOL1 145282 broad.mit.edu 37 14 37892073 37892073 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr14:37892073C>T uc001wuc.2 + 12 1453 c.950C>T c.(949-951)TCT>TTT p.S317F MIPOL1_uc010amr.2_RNA|MIPOL1_uc001wub.3_Missense_Mutation_p.S286F|MIPOL1_uc001wud.2_Missense_Mutation_p.S317F|MIPOL1_uc010ams.2_Missense_Mutation_p.S317F|MIPOL1_uc001wue.2_Missense_Mutation_p.S286F|MIPOL1_uc010amt.2_Missense_Mutation_p.S136F NM_138731 NP_620059 Q8TD10 MIPO1_HUMAN mirror-image polydactyly 1 317 Potential. ovary(1)|central_nervous_system(1) 2 Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196) GBM - Glioblastoma multiforme(112;0.0358) AAGTTGTTATCTATGCAACAA 0.323 NaN 0 0 0 0.058154 0 7 14 KIAA0831 22863 broad.mit.edu 37 14 55836491 55836491 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr14:55836491C>T uc001xbx.1 - 10 1361 c.1325G>A c.(1324-1326)CGG>CAG p.R442Q FBXO34_uc001xbv.2_Intron|KIAA0831_uc001xbw.1_Missense_Mutation_p.R329Q NM_014924 NP_055739 Q6ZNE5 BAKOR_HUMAN Barkor 442 autophagic vacuole assembly|positive regulation of autophagy autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane protein binding 0 ATCACAAAACCGGGGACTAGG 0.587 NaN 0 0 0 0.132662 0 16 43 SPTB 6710 broad.mit.edu 37 14 65259855 65259855 + Silent SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr14:65259855C>T uc001xht.2 - 13 2580 c.2526G>A c.(2524-2526)CAG>CAA p.Q842Q SPTB_uc001xhr.2_Silent_p.Q842Q|SPTB_uc001xhs.2_Silent_p.Q842Q|SPTB_uc001xhu.2_Silent_p.Q842Q NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 842 Spectrin 6. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CCTGCAGCCTCTGCTGACGCA 0.627 NaN 0 0 0 0.105934 0 13 50 TTLL5 23093 broad.mit.edu 37 14 76186104 76186104 + Missense_Mutation SNP A A G TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr14:76186104A>G uc001xrx.2 + 11 1074 c.869A>G c.(868-870)TAT>TGT p.Y290C TTLL5_uc010ask.1_Missense_Mutation_p.Y290C|TTLL5_uc001xry.1_Intron NM_015072 NP_055887 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 290 TTL. protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity ovary(2)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.029) GTGGAGGATTATGGAAACAAA 0.388 NaN 0 0 0 0.115264 0 2 23 HERC2 8924 broad.mit.edu 37 15 28467317 28467317 + Missense_Mutation SNP G G C TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr15:28467317G>C uc001zbj.2 - 36 5615 c.5509C>G c.(5509-5511)CAA>GAA p.Q1837E NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 1837 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GAAGCACCTTGAGCAGAAGCA 0.493 NaN 0 0 0 0.080935 0 8 26 CASC5 57082 broad.mit.edu 37 15 40914878 40914878 + Missense_Mutation SNP G G C TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr15:40914878G>C uc010bbs.1 + 11 2655 c.2494G>C c.(2494-2496)GAA>CAA p.E832Q CASC5_uc010ucq.1_Missense_Mutation_p.E656Q|CASC5_uc001zme.2_Missense_Mutation_p.E806Q|CASC5_uc010bbt.1_Missense_Mutation_p.E806Q NM_170589 NP_733468 Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 isoform 1 832 acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding breast(3)|central_nervous_system(1)|skin(1) 5 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) TGTAAAAGTTGAAAAATGTGG 0.358 NaN 0 0 0 0.02938 0 6 17 DENND4A 10260 broad.mit.edu 37 15 65988761 65988761 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr15:65988761C>T uc002aph.2 - 21 3271 c.2893G>A c.(2893-2895)GTT>ATT p.V965I DENND4A_uc002api.2_Missense_Mutation_p.V1008I|DENND4A_uc002apj.3_Missense_Mutation_p.V965I NM_005848 NP_005839 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A isoform 2 965 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 GTGAGGCGAACGATACTGGAA 0.383 NaN 0 0 0 0.021553 0 5 26 NOXO1 124056 broad.mit.edu 37 16 2029466 2029466 + Missense_Mutation SNP G G T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr16:2029466G>T uc002cnx.2 - 7 797 c.793C>A c.(793-795)CGC>AGC p.R265S NOXO1_uc002cnz.2_Missense_Mutation_p.R259S|NOXO1_uc002coa.2_Missense_Mutation_p.R264S|NOXO1_uc002cny.2_Missense_Mutation_p.R260S NM_172168 NP_751908 Q8NFA2 NOXO1_HUMAN NADPH oxidase organizer 1 isoform c 265 SH3 2. cell communication|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst NADPH oxidase complex enzyme binding|phosphatidylinositol binding|superoxide-generating NADPH oxidase activator activity 0 TCCAACACGCGCACGCGCGCC 0.706 NaN 1 0 2.0095e-06 0.02938 2.19789e-06 6 28 CD19 930 broad.mit.edu 37 16 28948412 28948412 + Missense_Mutation SNP G G A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr16:28948412G>A uc002drs.2 + 8 1215 c.1153G>A c.(1153-1155)GTC>ATC p.V385I uc010vct.1_Intron|CD19_uc010byo.1_Missense_Mutation_p.V385I NM_001770 NP_001761 P15391 CD19_HUMAN CD19 antigen precursor 385 Cytoplasmic (Potential). cellular defense response external side of plasma membrane|integral to plasma membrane protein binding|receptor signaling protein activity ovary(2)|central_nervous_system(1) 3 GAGCAGCGACGTCCAGGCGGA 0.682 NaN 0 0 0 0.014758 0 4 17 CX3CL1 6376 broad.mit.edu 37 16 57416628 57416628 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr16:57416628C>T uc002eli.2 + 3 945 c.878C>T c.(877-879)TCA>TTA p.S293L NM_002996 NP_002987 P78423 X3CL1_HUMAN chemokine (C-X3-C motif) ligand 1 precursor 293 Mucin-like stalk.|Extracellular (Potential). cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response cell surface|extracellular space|integral to membrane|plasma membrane chemokine activity 0 CCTGTCTCCTCAGAAGGGACC 0.672 NaN 0 0 0 0.043863 0 19 55 ADAMTS18 170692 broad.mit.edu 37 16 77465414 77465414 + Missense_Mutation SNP C C G TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr16:77465414C>G uc002ffc.3 - 3 692 c.273G>C c.(271-273)CAG>CAC p.Q91H ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_RNA NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 91 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 TTCTGGCATTCTGCGCCGATC 0.478 NaN 0 0 0 0.139131 0 59 160 SLFN13 146857 broad.mit.edu 37 17 33769076 33769076 + Silent SNP G G C TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr17:33769076G>C uc002hjk.1 - 3 1758 c.1428C>G c.(1426-1428)CTC>CTG p.L476L SLFN13_uc010wch.1_Silent_p.L476L|SLFN13_uc002hjl.2_Silent_p.L476L|SLFN13_uc010ctt.2_Silent_p.L158L|SLFN13_uc002hjm.2_Silent_p.L145L NM_144682 NP_653283 Q68D06 SLN13_HUMAN schlafen family member 13 476 intracellular ATP binding ovary(1)|breast(1) 2 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) CCTGCTCCCTGAGAATGGTGT 0.557 NaN 0 0 0 0.132662 0 14 100 UBTF 7343 broad.mit.edu 37 17 42286824 42286824 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr17:42286824C>T uc002igb.2 - 16 1868 c.1801G>A c.(1801-1803)GGC>AGC p.G601S UBTF_uc002igc.2_Missense_Mutation_p.G564S|UBTF_uc010czs.2_Missense_Mutation_p.G601S|UBTF_uc002igd.2_Missense_Mutation_p.G564S|UBTF_uc010czt.2_Missense_Mutation_p.G601S|UBTF_uc002ige.2_Missense_Mutation_p.G564S NM_014233 NP_055048 P17480 UBF1_HUMAN upstream binding transcription factor, RNA 601 HMG box 6. positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm DNA binding|protein binding 0 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.114) CAGCGACTGCCGATCTCCACC 0.597 NaN 0 0 0 0.080935 0 11 46 CBX1 10951 broad.mit.edu 37 17 46154251 46154251 + Missense_Mutation SNP A A G TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr17:46154251A>G uc002ind.3 - 2 597 c.116T>C c.(115-117)CTC>CCC p.L39P CBX1_uc002ine.3_Missense_Mutation_p.L39P NM_006807 NP_006798 P83916 CBX1_HUMAN heterochromatin protein 1-beta 39 Chromo 1. nuclear heterochromatin|nucleoplasm|spindle chromatin binding|enzyme binding 0 CCACTTTAGGAGGTACTCCAC 0.463 NaN 0 0 0 0.009096 0 3 146 CARD14 79092 broad.mit.edu 37 17 78166304 78166304 + Silent SNP C C G TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr17:78166304C>G uc002jxw.1 + 9 1437 c.1242C>G c.(1240-1242)CTC>CTG p.L414L CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Silent_p.L414L|CARD14_uc010wud.1_RNA|CARD14_uc002jxx.2_Silent_p.L177L|CARD14_uc010dhu.1_Silent_p.L212L NM_024110 NP_077015 Q9BXL6 CAR14_HUMAN caspase recruitment domain protein 14 isoform 1 414 activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding ovary(4)|skin(1) 5 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) TTTGGCAGCTCAAGCAGGAAG 0.612 NaN 0 0 0 0.049695 0 19 59 TCEB3B 51224 broad.mit.edu 37 18 44561319 44561319 + Missense_Mutation SNP T T C rs146911955 byFrequency TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr18:44561319T>C uc002lcr.1 - 1 670 c.317A>G c.(316-318)CAG>CGG p.Q106R KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN elongin A2 106 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding ovary(2)|large_intestine(1)|pancreas(1) 4 GGCCTTTTCCTGGTCCTGAAG 0.652 NaN 0 0 0 0.069234 0 11 74 TCEB3B 51224 broad.mit.edu 37 18 44561321 44561321 + Missense_Mutation SNP G G C rs138936821 byFrequency TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr18:44561321G>C uc002lcr.1 - 1 668 c.315C>G c.(313-315)GAC>GAG p.D105E KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN elongin A2 105 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding ovary(2)|large_intestine(1)|pancreas(1) 4 CCTTTTCCTGGTCCTGAAGAG 0.662 NaN 0 0 0 0.058154 0 10 71 MPND 84954 broad.mit.edu 37 19 4357557 4357557 + Missense_Mutation SNP C C G TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr19:4357557C>G uc002mae.2 + 10 1278 c.1211C>G c.(1210-1212)CCT>CGT p.P404R MPND_uc010dtx.2_RNA|MPND_uc002mag.2_Missense_Mutation_p.P354R|MPND_uc002maf.2_Missense_Mutation_p.P404R|MPND_uc002mah.2_Missense_Mutation_p.P292R|MPND_uc002mai.2_Missense_Mutation_p.P263R NM_032868 NP_116257 Q8N594 MPND_HUMAN MPN domain containing isoform 1 404 peptidase activity breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) AAGATCTCACCTTTCTGGGTG 0.672 NaN 0 0 0 0.09319 0 7 26 KIAA1543 57662 broad.mit.edu 37 19 7675446 7675446 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr19:7675446C>T uc002mgv.3 + 6 946 c.845C>T c.(844-846)CCT>CTT p.P282L KIAA1543_uc002mgu.3_Missense_Mutation_p.P309L NM_020902 NP_065953 Q9P1Y5 CAMP3_HUMAN NEZHA isoform 2 282 CH. epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding pancreas(1) 1 TCTCGCCTTCCTCGTGGCTGC 0.642 NaN 0 0 0 0.139131 0 63 164 ZNF91 7644 broad.mit.edu 37 19 23543307 23543307 + Missense_Mutation SNP G G A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr19:23543307G>A uc002nre.2 - 4 2587 c.2474C>T c.(2473-2475)CCC>CTC p.P825L ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.P793L NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 825 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) ACATTTGTAGGGTTTCTCTCC 0.403 NaN 0 0 0 0.080935 0 11 52 POLR1A 25885 broad.mit.edu 37 2 86258591 86258591 + Silent SNP C C G TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr2:86258591C>G uc002sqs.2 - 30 4819 c.4440G>C c.(4438-4440)CTG>CTC p.L1480L POLR1A_uc010ytb.1_Silent_p.L846L NM_015425 NP_056240 O95602 RPA1_HUMAN DNA-directed RNA polymerase I A 1480 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 GGGGCTGCGTCAGGAGGGCGG 0.632 NaN 0 0 0 0.086207 0 36 111 POLR1A 25885 broad.mit.edu 37 2 86258707 86258707 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr2:86258707C>T uc002sqs.2 - 30 4703 c.4324G>A c.(4324-4326)GAT>AAT p.D1442N POLR1A_uc010ytb.1_Missense_Mutation_p.D808N NM_015425 NP_056240 O95602 RPA1_HUMAN DNA-directed RNA polymerase I A 1442 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 atgtcttcatcgtcgttctcc 0.393 NaN 0 0 0 0.038395 0 17 53 POLR1A 25885 broad.mit.edu 37 2 86258743 86258743 + Nonsense_Mutation SNP C C A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr2:86258743C>A uc002sqs.2 - 30 4667 c.4288G>T c.(4288-4290)GAG>TAG p.E1430* POLR1A_uc010ytb.1_Nonsense_Mutation_p.E796* NM_015425 NP_056240 O95602 RPA1_HUMAN DNA-directed RNA polymerase I A 1430 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 tcctcttcctcACTCTCATAA 0.383 NaN 1 0 1.67942e-08 0.038395 1.8562e-08 18 56 CDH26 60437 broad.mit.edu 37 20 58545166 58545166 + Silent SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr20:58545166C>T uc002ybe.2 + 3 456 c.156C>T c.(154-156)TCC>TCT p.S52S CDH26_uc010zzy.1_RNA NM_177980 NP_817089 Q8IXH8 CAD26_HUMAN cadherin-like 26 isoform a 52 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|central_nervous_system(1) 4 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) TACGGCGATCCAAGAGAAGAT 0.502 NaN 0 0 0 0.108266 0 24 112 LSM14B 149986 broad.mit.edu 37 20 60697745 60697745 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr20:60697745C>T uc010gjy.1 + 1 229 c.23C>T c.(22-24)CCG>CTG p.P8L LSM14B_uc002ybt.2_Missense_Mutation_p.P8L|LSM14B_uc010gjx.1_Missense_Mutation_p.P8L|LSM14B_uc002ybv.2_Missense_Mutation_p.P8L|LSM14B_uc010gjz.1_5'Flank|LSM14B_uc010zzz.1_5'Flank NM_144703 NP_653304 Q9BX40 LS14B_HUMAN LSM14 homolog B 8 multicellular organismal development|regulation of translation ribonucleoprotein complex 0 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.28e-07) TCAGGCACCCCGTATCTGGGC 0.542 NaN 0 0 0 0.021553 0 6 33 COL18A1 80781 broad.mit.edu 37 21 46914788 46914788 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr21:46914788C>T uc011afs.1 + 27 3658 c.3637C>T c.(3637-3639)CGG>TGG p.R1213W COL18A1_uc002zhg.2_Missense_Mutation_p.R798W|COL18A1_uc002zhi.2_Missense_Mutation_p.R978W NM_130444 NP_569711 P39060 COIA1_HUMAN alpha 1 type XVIII collagen isoform 3 precursor 1213 Triple-helical region 6 (COL6). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding central_nervous_system(1) 1 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) TCCATACGGACGGCCGGGGTA 0.682 NaN 0 0 0 0.047766 0 7 22 GGT1 2678 broad.mit.edu 37 22 25011027 25011027 + Silent SNP C C T rs112364951 by1000genomes TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr22:25011027C>T uc003aan.1 + 7 802 c.315C>T c.(313-315)AAC>AAT p.N105N GGT1_uc003aas.1_Silent_p.N105N|GGT1_uc003aat.1_Silent_p.N105N|GGT1_uc003aau.1_Silent_p.N105N|GGT1_uc003aav.1_Silent_p.N105N|GGT1_uc003aaw.1_Silent_p.N105N|GGT1_uc003aax.1_Silent_p.N105N NM_013430 NP_038347 P19440 GGT1_HUMAN gamma-glutamyltransferase 1 precursor 105 Extracellular (Potential). glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity|protein binding 0 Glutathione(DB00143) AGGTCATCAACGCCCGCGAGG 0.637 NaN 0 0 0 0.009096 0 4 60 LARGE 9215 broad.mit.edu 37 22 33780235 33780235 + Missense_Mutation SNP C C G TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr22:33780235C>G uc003and.3 - 9 1527 c.948G>C c.(946-948)TGG>TGC p.W316C LARGE_uc011amd.1_Missense_Mutation_p.W115C|LARGE_uc003ane.3_Missense_Mutation_p.W316C|LARGE_uc010gwp.2_Missense_Mutation_p.W316C|LARGE_uc011ame.1_Missense_Mutation_p.W248C|LARGE_uc011amf.1_Missense_Mutation_p.W316C|LARGE_uc010gwq.1_RNA NM_004737 NP_004728 O95461 LARGE_HUMAN like-glycosyltransferase 316 Lumenal (Potential). glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(1;0.219) CGGTCAGCCTCCACATCTGCT 0.488 NaN 0 0 0 0.059317 0 35 85 CYTH4 27128 broad.mit.edu 37 22 37699360 37699360 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr22:37699360C>T uc003arf.2 + 8 729 c.613C>T c.(613-615)CGG>TGG p.R205W CYTH4_uc003are.2_Missense_Mutation_p.R205W|CYTH4_uc011amw.1_Missense_Mutation_p.R148W|CYTH4_uc010gxe.2_Intron NM_013385 NP_037517 Q9UIA0 CYH4_HUMAN cytohesin 4 205 SEC7. regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity ovary(2) 2 TCCCAACGTCCGGGACAGGCC 0.612 NaN 0 0 0 0.058154 0 9 52 PLXNB2 23654 broad.mit.edu 37 22 50718455 50718455 + Missense_Mutation SNP G G C TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr22:50718455G>C uc003bkv.3 - 26 4327 c.4221C>G c.(4219-4221)ATC>ATG p.I1407M PLXNB2_uc003bkt.1_Missense_Mutation_p.I199M|PLXNB2_uc003bku.1_Missense_Mutation_p.I392M NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 1407 Cytoplasmic (Potential). regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GGTACAGGCAGATGGACATCC 0.607 NaN 0 0 0 0.058154 0 10 46 TYMP 1890 broad.mit.edu 37 22 50968116 50968116 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr22:50968116C>T uc003bmb.3 - 1 143 c.23G>A c.(22-24)GGA>GAA p.G8E TYMP_uc003bmc.3_Missense_Mutation_p.G8E|TYMP_uc003bmd.3_Missense_Mutation_p.G8E|TYMP_uc010hbd.2_Missense_Mutation_p.G8E|TYMP_uc003bme.3_Missense_Mutation_p.G8E|TYMP_uc003bmf.3_Missense_Mutation_p.G8E|TYMP_uc011arz.1_Missense_Mutation_p.G8E NM_001113756 NP_001107228 P19971 TYPH_HUMAN endothelial cell growth factor 1 8 angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process cytosol growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity ovary(1) 1 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675) GGCCCCGGTTCCCGGGGTCAT 0.716 NaN 0 0 0 0.014758 0 4 25 FGD5 152273 broad.mit.edu 37 3 14862507 14862507 + Silent SNP G G A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr3:14862507G>A uc003bzc.2 + 1 2039 c.1929G>A c.(1927-1929)CCG>CCA p.P643P FGD5_uc011avk.1_Silent_p.P643P NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 643 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|kidney(1)|pancreas(1) 5 GCGACTCCCCGGACAAGTACA 0.507 NaN 0 0 0 0.062417 0 21 45 RHOA 387 broad.mit.edu 37 3 49397710 49397710 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr3:49397710C>T uc003cwu.2 - 5 790 c.514G>A c.(514-516)GAA>AAA p.E172K RHOA_uc010hku.2_Missense_Mutation_p.E91K|GPX1_uc011bcl.1_5'Flank|GPX1_uc011bcm.1_5'Flank NM_001664 NP_001655 P61586 RHOA_HUMAN ras homolog gene family, member A precursor 172 axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity|myosin binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) Atorvastatin(DB01076)|Simvastatin(DB00641) GTAGCCATTTCAAAAACCTCT 0.483 NaN 0 0 0 0.055883 0 20 91 ADPRH 141 broad.mit.edu 37 3 119305346 119305346 + Silent SNP G G A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr3:119305346G>A uc003ecs.2 + 4 811 c.513G>A c.(511-513)GGG>GGA p.G171G ADPRH_uc010hqv.2_Silent_p.G171G|ADPRH_uc011bjb.1_Silent_p.G64G|ADPRH_uc003ect.2_Silent_p.G171G NM_001125 NP_001116 P54922 ADPRH_HUMAN ADP-ribosylarginine hydrolase 171 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding ovary(1) 1 Lung NSC(201;0.0977) GBM - Glioblastoma multiforme(114;0.23) GCTACCTGGGGGCCCTTGCGT 0.542 NaN 0 0 0 0.069456 0 38 115 PLSCR1 5359 broad.mit.edu 37 3 146251317 146251317 + Missense_Mutation SNP G G T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr3:146251317G>T uc003evx.3 - 3 422 c.34C>A c.(34-36)CAC>AAC p.H12N PLSCR1_uc003evy.3_Missense_Mutation_p.H5N|PLSCR1_uc011bnn.1_Silent_p.L3L|PLSCR1_uc003evz.3_RNA|PLSCR1_uc003ewa.2_Missense_Mutation_p.H12N NM_021105 NP_066928 O15162 PLS1_HUMAN phospholipid scramblase 1 12 Cytoplasmic. phospholipid scrambling|platelet activation|response to virus integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding ovary(2) 2 GTTTCCGGGTGAGAAGCATTC 0.348 NaN 1 0 3.62473e-10 0.062417 4.0489e-10 22 82 BOD1L 259282 broad.mit.edu 37 4 13601146 13601146 + Nonsense_Mutation SNP C C A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr4:13601146C>A uc003gmz.1 - 10 7495 c.7378G>T c.(7378-7380)GAA>TAA p.E2460* BOD1L_uc010idr.1_Nonsense_Mutation_p.E1797* NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 2460 DNA binding ovary(5)|breast(1) 6 TTCTTCTCTTCTGCATTTATG 0.468 NaN OREG0016115 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 2.39187e-15 0.049695 2.7005e-15 19 60 BOD1L 259282 broad.mit.edu 37 4 13601587 13601587 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr4:13601587C>T uc003gmz.1 - 10 7054 c.6937G>A c.(6937-6939)GAA>AAA p.E2313K BOD1L_uc010idr.1_Missense_Mutation_p.E1650K NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 2313 DNA binding ovary(5)|breast(1) 6 AGCCGATCTTCATCCTGGAGG 0.522 NaN 0 0 0 0.058154 0 10 6 PCDH18 54510 broad.mit.edu 37 4 138451062 138451062 + Missense_Mutation SNP C C G TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr4:138451062C>G uc003ihe.3 - 1 2568 c.2181G>C c.(2179-2181)GAG>GAC p.E727D PCDH18_uc003ihf.3_Missense_Mutation_p.E720D|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.E507D|PCDH18_uc011cha.1_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN protocadherin 18 precursor 727 Cytoplasmic (Potential). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding pancreas(3)|skin(2) 5 all_hematologic(180;0.24) TGTCTTTCTTCTCGCGGTTAC 0.448 NaN 0 0 0 0.069288 0 23 43 SLC6A19 340024 broad.mit.edu 37 5 1214154 1214154 + Missense_Mutation SNP C C G TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr5:1214154C>G uc003jbw.3 + 6 917 c.861C>G c.(859-861)ATC>ATG p.I287M NM_001003841 NP_001003841 Q695T7 S6A19_HUMAN solute carrier family 6, member 19 287 Helical; Name=6; (Potential). cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GGGGCCTCATCTCCTTCTCCA 0.622 NaN 0 0 0 0.0918 0 24 85 IL6ST 3572 broad.mit.edu 37 5 55252048 55252048 + Missense_Mutation SNP C C G TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr5:55252048C>G uc003jqq.2 - 10 1327 c.1072G>C c.(1072-1074)GAA>CAA p.E358Q IL6ST_uc010iwb.2_Missense_Mutation_p.E358Q|IL6ST_uc010iwc.2_Intron|IL6ST_uc010iwd.2_Intron|IL6ST_uc011cqk.1_Missense_Mutation_p.E69Q|IL6ST_uc003jqr.2_Nonstop_Mutation_p.*330S NM_002184 NP_002175 P40189 IL6RB_HUMAN interleukin 6 signal transducer isoform 1 358 Extracellular (Potential).|Fibronectin type-III 3. interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity large_intestine(1)|ovary(1) 2 Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223) CCATTGGCTTCAAAAGGAGGC 0.279 NaN O hepatocellular ca 0 0 0 0.02938 0 7 35 PCDHA4 56144 broad.mit.edu 37 5 140188974 140188974 + Silent SNP G G A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr5:140188974G>A uc003lhi.2 + 1 2303 c.2202G>A c.(2200-2202)CCG>CCA p.P734P PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.P734P|PCDHA4_uc011daa.1_Silent_p.P734P NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 734 Cytoplasmic (Potential).|PXXP 1.|6 X 4 AA repeats of P-X-X-P. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTGCGCTCCGGGCAAGCCCA 0.682 NaN 0 0 0 0.055883 0 22 50 PCDHA9 9752 broad.mit.edu 37 5 140229486 140229486 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr5:140229486C>T uc003lhu.2 + 1 2130 c.1406C>T c.(1405-1407)CCG>CTG p.P469L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.P469L NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 469 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding large_intestine(2)|ovary(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGAACAACCCGCCGGGCTGC 0.672 NaN 0 0 0 0.09836 0 41 87 PCDHB2 56133 broad.mit.edu 37 5 140476332 140476332 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr5:140476332C>T uc003lil.2 + 1 2096 c.1958C>T c.(1957-1959)CCG>CTG p.P653L PCDHB2_uc003lim.1_Missense_Mutation_p.P314L NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN protocadherin beta 2 precursor 653 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(3)|upper_aerodigestive_tract(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGCGAGCCTCCGCGCTCGGCC 0.721 NaN 0 0 0 0.0918 0 24 68 PCDHB4 56131 broad.mit.edu 37 5 140503159 140503159 + Missense_Mutation SNP G G A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr5:140503159G>A uc003lip.1 + 1 1579 c.1579G>A c.(1579-1581)GAG>AAG p.E527K NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 precursor 527 Cadherin 5.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCAGGCGTTCGAGTTCCGCGT 0.677 NaN 0 0 0 0.092188 0 42 85 PCDHB15 56121 broad.mit.edu 37 5 140626734 140626734 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr5:140626734C>T uc003lje.2 + 1 1588 c.1588C>T c.(1588-1590)CGC>TGC p.R530C NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN protocadherin beta 15 precursor 530 Extracellular (Potential).|Cadherin 5. 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) TTTCGAGTTCCGCGTGGGCGC 0.662 NaN 0 0 0 0.045705 0 33 78 HIST1H1D 3007 broad.mit.edu 37 6 26234607 26234607 + Silent SNP T T C TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr6:26234607T>C uc003nhd.2 - 1 610 c.555A>G c.(553-555)AAA>AAG p.K185K NM_005320 NP_005311 P16402 H13_HUMAN histone cluster 1, H1d 185 nucleosome assembly nucleosome|nucleus DNA binding skin(1) 1 all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167) TCTTGGCAGCTTTTTTTGGCT 0.522 NaN 0 0 0 0.009096 0 3 131 VARS 7407 broad.mit.edu 37 6 31760629 31760629 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr6:31760629C>T uc003nxe.2 - 4 989 c.566G>A c.(565-567)CGC>CAC p.R189H VARS_uc011doi.1_RNA NM_006295 NP_006286 P26640 SYVC_HUMAN valyl-tRNA synthetase 189 GST C-terminal. translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 L-Valine(DB00161) GACAAACCAGCGAGTCACATT 0.547 NaN 0 0 0 0.080935 0 12 46 GPR110 266977 broad.mit.edu 37 6 46969267 46969267 + Missense_Mutation SNP G G A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr6:46969267G>A uc003oyt.2 - 14 2829 c.2630C>T c.(2629-2631)TCA>TTA p.S877L GPR110_uc011dwl.1_Missense_Mutation_p.S565L NM_153840 NP_722582 Q5T601 GP110_HUMAN G-protein coupled receptor 110 isoform 1 877 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(2)|pancreas(1) 3 GAAAGGCTTTGAGAATTTGGG 0.313 NaN 0 0 0 0.080935 0 9 18 CD164 8763 broad.mit.edu 37 6 109691643 109691643 + Missense_Mutation SNP G G C TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr6:109691643G>C uc003pte.2 - 5 579 c.398C>G c.(397-399)TCT>TGT p.S133C CD164_uc003ptd.2_Missense_Mutation_p.S133C|CD164_uc003ptf.2_Intron|CD164_uc011eap.1_Missense_Mutation_p.S133C|CD164_uc010kdn.2_Missense_Mutation_p.S120C NM_006016 NP_006007 Q04900 MUC24_HUMAN CD164 molecule, sialomucin isoform 1 133 Thr-rich.|Extracellular (Potential). hemopoiesis|heterophilic cell-cell adhesion|immune response|muscle organ development|negative regulation of cell adhesion|negative regulation of cell proliferation|signal transduction endosome membrane|extracellular region|integral to plasma membrane|lysosomal membrane protein binding 0 all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175) Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16) GGAAGTTGTAGAAGGGGAGGG 0.378 NaN 0 0 0 0.014758 0 4 21 TNFAIP3 7128 broad.mit.edu 37 6 138198247 138198247 + Silent SNP G G A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr6:138198247G>A uc003qhr.2 + 6 906 c.840G>A c.(838-840)CGG>CGA p.R280R TNFAIP3_uc003qhs.2_Silent_p.R280R NM_006290 NP_006281 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 280 TRAF-binding. anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(22) haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1) 137 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) ACAGAGACCGGGGAAGATTTG 0.358 NaN D|N|F marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma 0 0 0 0.146539 0 13 47 KLHL7 55975 broad.mit.edu 37 7 23164704 23164704 + Missense_Mutation SNP G G A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr7:23164704G>A uc003svs.3 + 4 648 c.355G>A c.(355-357)GAT>AAT p.D119N KLHL7_uc003svr.3_Missense_Mutation_p.D97N|KLHL7_uc011jys.1_Missense_Mutation_p.D43N|KLHL7_uc011jyt.1_Intron|KLHL7_uc003svt.2_Missense_Mutation_p.D71N|KLHL7_uc003svp.2_Missense_Mutation_p.D97N|KLHL7_uc003svq.2_Missense_Mutation_p.D119N|KLHL7_uc011jyu.1_Missense_Mutation_p.D97N NM_001031710 NP_001026880 Q8IXQ5 KLHL7_HUMAN kelch-like 7 isoform 1 119 Golgi apparatus|nucleolus|plasma membrane 0 GTCTTTGCTGGATGCAGCAAA 0.318 NaN 0 0 0 0.146539 0 16 28 SEMA3D 223117 broad.mit.edu 37 7 84751133 84751133 + Silent SNP T T C TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr7:84751133T>C uc003uic.2 - 1 115 c.75A>G c.(73-75)CTA>CTG p.L25L SEMA3D_uc010led.2_Silent_p.L25L|SEMA3D_uc010lee.1_Silent_p.L25L NM_152754 NP_689967 O95025 SEM3D_HUMAN semaphorin 3D precursor 25 cell differentiation|nervous system development extracellular region|membrane receptor activity ovary(3)|large_intestine(2) 5 TGGTCATGCTTAGCATCATCA 0.333 NaN 0 0 0 0.049695 0 19 31 SVOPL 136306 broad.mit.edu 37 7 138310792 138310792 + Silent SNP G G A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr7:138310792G>A uc011kqh.1 - 12 1185 c.1185C>T c.(1183-1185)GCC>GCT p.A395A SVOPL_uc003vue.2_Silent_p.A243A NM_001139456 NP_001132928 Q8N434 SVOPL_HUMAN SVOP-like isoform 1 395 Helical; (Potential). integral to membrane transmembrane transporter activity 0 CAATCAGGCCGGCACTAGAAA 0.502 NaN 0 0 0 0.115264 0 3 38 CDKN2B 1030 broad.mit.edu 37 9 22006036 22006036 + Missense_Mutation SNP G G A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr9:22006036G>A uc003zpo.2 - 2 727 c.367C>T c.(367-369)CGG>TGG p.R123W MTAP_uc003zpi.1_Intron|CDKN2BAS_uc010miw.1_Intron|CDKN2BAS_uc010mix.1_Intron|CDKN2BAS_uc003zpm.2_Intron|CDKN2B_uc003zpn.2_3'UTR NM_004936 NP_004927 P42772 CDN2B_HUMAN cyclin-dependent kinase inhibitor 2B isoform 1 123 ANK 4. cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|protein kinase binding lung(1) 1 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143) CGGTGGCCCCGCTCCTCGGCC 0.682 NaN Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System 0 0 0 0.038147 0 6 14 PTPN3 5774 broad.mit.edu 37 9 112145729 112145729 + Nonsense_Mutation SNP G G A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr9:112145729G>A uc004bed.2 - 23 2468 c.2356C>T c.(2356-2358)CGA>TGA p.R786* PTPN3_uc004beb.2_Nonsense_Mutation_p.R655*|PTPN3_uc004bec.2_Nonsense_Mutation_p.R610*|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Nonsense_Mutation_p.R741*|PTPN3_uc011lwh.1_Nonsense_Mutation_p.R632*|PTPN3_uc011lwd.1_Nonsense_Mutation_p.R254*|PTPN3_uc011lwe.1_Nonsense_Mutation_p.R499*|PTPN3_uc011lwf.1_Nonsense_Mutation_p.R454* NM_002829 NP_002820 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 786 Tyrosine-protein phosphatase. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity ovary(3) 3 AGCATTTCTCGGGACACATAG 0.602 NaN 0 0 0 0.117977 0 45 73 TTF1 7270 broad.mit.edu 37 9 135263551 135263551 + Missense_Mutation SNP G G A rs112758716 TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr9:135263551G>A uc004cbl.2 - 8 2339 c.2287C>T c.(2287-2289)CGG>TGG p.R763W TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Missense_Mutation_p.R248W NM_007344 NP_031370 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase 763 negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) ACCTTGGCCCGCAGGGCATTC 0.363 NaN 0 0 0 0.115264 0 3 38 GFI1B 8328 broad.mit.edu 37 9 135866388 135866388 + Missense_Mutation SNP G G A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr9:135866388G>A uc004ccg.2 + 7 1095 c.944G>A c.(943-945)CGC>CAC p.R315H GFI1B_uc010mzy.2_Missense_Mutation_p.R269H NM_004188 NP_004179 Q5VTD9 GFI1B_HUMAN growth factor independent 1B transcription 315 C2H2-type 6.|Mediates interaction with GATA1.|Interaction with ARIH2. cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|zinc ion binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05) GGCTTCCAGCGCAAGGTGGAC 0.647 NaN 0 0 0 0.009096 0 3 53 CACNA1B 774 broad.mit.edu 37 9 140811877 140811877 + Silent SNP C C G TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr9:140811877C>G uc004cog.2 + 6 1105 c.960C>G c.(958-960)CTC>CTG p.L320L NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 320 I.|Extracellular (Potential). membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity breast(3)|large_intestine(2)|ovary(1) 6 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CTGACATCCTCTATAATGTGA 0.582 NaN 0 0 0 0.144211 0 27 41 KDM6A 7403 broad.mit.edu 37 X 44870260 44870260 + Nonsense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chrX:44870260C>T uc004dge.3 + 5 814 c.439C>T c.(439-441)CAG>TAG p.Q147* KDM6A_uc010nhk.2_Nonsense_Mutation_p.Q147*|KDM6A_uc011mkz.1_Nonsense_Mutation_p.Q147*|KDM6A_uc011mla.1_Nonsense_Mutation_p.Q147*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.Q147*|KDM6A_uc011mlc.1_5'UTR NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 147 TPR 2. histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0(2)|p.?(1) kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 TAATGCATTTCAGTGGTAAGT 0.318 NaN D|N|F|S renal|oesophageal SCC|MM 0 0 0 0.069234 0 10 4 ARID1A 8289 broad.mit.edu 37 1 27100151 27100152 + Frame_Shift_Ins INS - - G TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 - G - - Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr1:27100151_27100152insG uc001bmv.1 + 16 4320_4321 c.3947_3948insG c.(3946-3948)TCGfs p.S1316fs ARID1A_uc001bmt.1_Frame_Shift_Ins_p.S1315fs|ARID1A_uc001bmu.1_Frame_Shift_Ins_p.S1316fs|ARID1A_uc001bmw.1_Frame_Shift_Ins_p.S933fs|ARID1A_uc001bmx.1_Frame_Shift_Ins_p.S162fs|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1316 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.M1318fs*163(1) ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) AACCCAGACTCGGGGATGTATT 0.51 NaN Mis|N|F|S|D clear cell ovarian carcinoma|RCC NaN NaN NaN NaN NaN 28 79 --- --- BEST3 144453 broad.mit.edu 37 12 70091534 70091534 + Frame_Shift_Del DEL A A - TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr12:70091534delA uc001svg.2 - 2 272 c.45delT c.(43-45)TTTfs p.F15fs BEST3_uc001svd.1_Frame_Shift_Del_p.F15fs|BEST3_uc001sve.1_Intron|BEST3_uc010stm.1_Intron|BEST3_uc001svh.2_Intron|BEST3_uc001svi.1_Intron NM_032735 NP_116124 Q8N1M1 BEST3_HUMAN vitelliform macular dystrophy 2-like 3 isoform 15 Cytoplasmic (Potential). chloride channel complex|plasma membrane chloride channel activity 0 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) TATGAAATCCAAAAAAAGTTG 0.353 NaN NaN NaN NaN NaN NaN 9 2947 --- --- NAPEPLD 222236 broad.mit.edu 37 7 102760122 102760123 + Frame_Shift_Ins INS - - A rs147416689 by1000genomes TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr7:102760122_102760123insA uc003vbc.2 - 3 1170_1171 c.842_843insT c.(841-843)TTCfs p.F281fs NAPEPLD_uc003vbd.2_Frame_Shift_Ins_p.F281fs|NAPEPLD_uc011klj.1_Frame_Shift_Ins_p.F354fs|NAPEPLD_uc003vbe.2_RNA NM_198990 NP_945341 Q6IQ20 NAPEP_HUMAN N-acyl phosphatidylethanolamine phospholipase D 281 Missing (in Ref. 3; CAI56779). phospholipid catabolic process membrane metal ion binding skin(1) 1 TATCTCCTGCGAAAAAAAATCG 0.46 NaN NaN NaN NaN NaN NaN 17 56 --- ---