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 ATAD3B 83858 broad.mit.edu 37 1 1423280 1423280 + Missense_Mutation SNP C C T TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr1:1423280C>T uc001afv.2 + 12 1353 c.1252C>T c.(1252-1254)CGG>TGG p.R418W ATAD3B_uc001afx.2_Missense_Mutation_p.R372W|ATAD3B_uc001afy.2_5'Flank NM_031921 NP_114127 Q5T9A4 ATD3B_HUMAN AAA-ATPase TOB3 418 ATP binding|nucleoside-triphosphatase activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) CGCCTTCCTTCGGAAGCGAGC 0.622 NaN 0 0 0 0.09319 0 13 68 NADK 65220 broad.mit.edu 37 1 1684482 1684482 + Missense_Mutation SNP G G A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr1:1684482G>A uc009vkw.2 - 12 1323 c.1202C>T c.(1201-1203)TCA>TTA p.S401L NADK_uc001aic.2_Missense_Mutation_p.S401L|NADK_uc001aid.3_Missense_Mutation_p.S401L|NADK_uc001aie.2_Missense_Mutation_p.S546L|NADK_uc010nyv.1_Missense_Mutation_p.S369L NM_023018 NP_075394 O95544 NADK_HUMAN NAD kinase 401 ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|NAD+ kinase activity|protein binding 0 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207) CGGGTAGCATGAGGTAGTGAT 0.642 NaN 0 0 0 0.021553 0 3 19 ARID1A 8289 broad.mit.edu 37 1 27059204 27059204 + Missense_Mutation SNP C C T TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr1:27059204C>T uc001bmv.1 + 4 2214 c.1841C>T c.(1840-1842)TCA>TTA p.S614L ARID1A_uc001bmt.1_Missense_Mutation_p.S614L|ARID1A_uc001bmu.1_Missense_Mutation_p.S614L|ARID1A_uc001bmw.1_Missense_Mutation_p.S231L NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 614 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 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) CAGGCATCCTCAGCCCCCTCA 0.478 NaN Mis|N|F|S|D clear cell ovarian carcinoma|RCC 0 0 0 0.038147 0 7 169 ARID1A 8289 broad.mit.edu 37 1 27059260 27059260 + Nonsense_Mutation SNP C C T TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr1:27059260C>T uc001bmv.1 + 4 2270 c.1897C>T c.(1897-1899)CAG>TAG p.Q633* ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q633*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q633*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q250* NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 633 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 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) CCTGAGCCTTCAGTCAAGACC 0.488 NaN Mis|N|F|S|D clear cell ovarian carcinoma|RCC 0 0 0 0.132662 0 14 170 RLF 6018 broad.mit.edu 37 1 40661404 40661404 + Missense_Mutation SNP T T G TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr1:40661404T>G uc001cfc.3 + 4 606 c.575T>G c.(574-576)ATT>AGT p.I192S NM_012421 NP_036553 Q13129 RLF_HUMAN rearranged L-myc fusion 192 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding ovary(2)|pancreas(1) 3 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) CTTCTTAAAATTCTGTCTCAA 0.368 NaN 0 0 0 0.02938 0 5 47 ECHDC2 55268 broad.mit.edu 37 1 53370432 53370432 + Silent SNP C C G TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr1:53370432C>G uc001cup.3 - 7 834 c.588G>C c.(586-588)CTG>CTC p.L196L ECHDC2_uc001cun.2_Silent_p.L119L|ECHDC2_uc001cuo.3_Silent_p.L165L|ECHDC2_uc010onk.1_Silent_p.L150L NM_018281 NP_060751 Q86YB7 ECHD2_HUMAN enoyl Coenzyme A hydratase domain containing 2 196 fatty acid metabolic process mitochondrion lyase activity central_nervous_system(1) 1 CAGTTCCACTCAGTCGTCGGC 0.677 NaN 0 0 0 0.105934 0 12 64 CD58 965 broad.mit.edu 37 1 117078842 117078842 + Missense_Mutation SNP G G C TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr1:117078842G>C uc001egm.2 - 3 494 c.373C>G c.(373-375)CCA>GCA p.P125A CD58_uc001egn.2_RNA|CD58_uc010owy.1_Missense_Mutation_p.P125A|CD58_uc001ego.1_Intron|CD58_uc001egp.3_Missense_Mutation_p.P125A NM_001779 NP_001770 P19256 LFA3_HUMAN CD58 molecule isoform 1 125 Extracellular (Potential). blood coagulation|cell-cell adhesion|leukocyte migration anchored to membrane|integral to plasma membrane protein binding 0 Lung SC(450;0.225) all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577) Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121) GTGGGAGATGGAAGAGACTCT 0.358 NaN 0 0 0 0.014758 0 5 36 NUDT17 200035 broad.mit.edu 37 1 145588986 145588986 + Missense_Mutation SNP C C T TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr1:145588986C>T uc001eoe.2 - 2 270 c.262G>A c.(262-264)GAT>AAT p.D88N NBPF10_uc001emp.3_Intron|NUDT17_uc001eof.1_Missense_Mutation_p.D148N NM_001012758 NP_001012776 P0C025 NUD17_HUMAN nudix (nucleoside diphosphate linked moiety 88 hydrolase activity|metal ion binding 0 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ACACCTCGATCTGTGGGCAGC 0.637 NaN OREG0013751 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.115264 0 3 15 KIF14 9928 broad.mit.edu 37 1 200571154 200571154 + Missense_Mutation SNP C C G TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr1:200571154C>G uc010ppk.1 - 11 2461 c.2022G>C c.(2020-2022)ATG>ATC p.M674I KIF14_uc010ppj.1_Missense_Mutation_p.M183I NM_014875 NP_055690 Q15058 KIF14_HUMAN kinesin family member 14 674 microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding breast(3)|ovary(2)|skin(2) 7 TCGTAGCAATCATTGCAGTTT 0.348 NaN 0 0 0 0.160694 0 15 83 OR2L2 26246 broad.mit.edu 37 1 248202245 248202245 + Missense_Mutation SNP C C T TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr1:248202245C>T uc001idw.2 + 1 772 c.676C>T c.(676-678)CGC>TGC p.R226C OR2L13_uc001ids.2_Intron NM_001004686 NP_001004686 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, 226 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 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;0.0278) TGCTGTCTACCGCATGCACTC 0.488 NaN 0 0 0 0.163468 0 33 191 ITGA8 8516 broad.mit.edu 37 10 15614236 15614236 + Missense_Mutation SNP G G A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr10:15614236G>A uc001ioc.1 - 25 2611 c.2611C>T c.(2611-2613)CCT>TCT p.P871S ITGA8_uc010qcb.1_Missense_Mutation_p.P856S NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 871 Extracellular (Potential). cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 TTGATATTAGGATTTGGTTGG 0.413 NaN 0 0 0 0.076483 0 20 85 OR13A1 79290 broad.mit.edu 37 10 45799078 45799078 + Missense_Mutation SNP C C T TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr10:45799078C>T uc001jcc.1 - 4 1102 c.793G>A c.(793-795)GTG>ATG p.V265M OR13A1_uc001jcd.1_Missense_Mutation_p.V261M NM_001004297 NP_001004297 Q8NGR1 O13A1_HUMAN olfactory receptor, family 13, subfamily A, 265 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ATGCACACCACGGTGAGGTGG 0.572 NaN 0 0 0 0.086207 0 39 96 ARHGAP22 58504 broad.mit.edu 37 10 49667753 49667753 + Silent SNP G G A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr10:49667753G>A uc001jgt.2 - 5 930 c.633C>T c.(631-633)GAC>GAT p.D211D ARHGAP22_uc001jgs.2_Silent_p.D121D|ARHGAP22_uc001jgu.2_Silent_p.D227D|ARHGAP22_uc010qgl.1_Silent_p.D168D|ARHGAP22_uc010qgm.1_Silent_p.D217D|ARHGAP22_uc001jgv.2_5'UTR NM_021226 NP_067049 Q7Z5H3 RHG22_HUMAN Rho GTPase activating protein 2 211 Rho-GAP. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol|nucleus GTPase activator activity ovary(1) 1 TCTCCCCACAGTCGAAGGAAT 0.617 NaN 0 0 0 0.160694 0 17 171 MGEA5 10724 broad.mit.edu 37 10 103547231 103547231 + Missense_Mutation SNP A A G TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr10:103547231A>G uc001ktv.2 - 15 2947 c.2504T>C c.(2503-2505)TTC>TCC p.F835S MGEA5_uc001ktu.2_RNA|MGEA5_uc010qqe.1_Missense_Mutation_p.F782S|MGEA5_uc009xws.2_Missense_Mutation_p.F768S NM_012215 NP_036347 O60502 NCOAT_HUMAN meningioma expressed antigen 5 (hyaluronidase) 835 Histone acetyltransferase activity (By similarity). glycoprotein catabolic process cytoplasm|nucleus histone acetyltransferase activity|hyalurononglucosaminidase activity ovary(2)|skin(1) 3 Colorectal(252;0.207) Epithelial(162;4.67e-09)|all cancers(201;2.54e-07) ATTAGCAAGGAAAGTTTCTGG 0.383 NaN 0 0 0 0.038147 0 8 101 CCKBR 887 broad.mit.edu 37 11 6291461 6291461 + Missense_Mutation SNP G G A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr11:6291461G>A uc001mcp.2 + 3 740 c.547G>A c.(547-549)GGA>AGA p.G183R CCKBR_uc001mcq.2_Missense_Mutation_p.G111R|CCKBR_uc001mcr.2_Missense_Mutation_p.G183R|CCKBR_uc001mcs.2_Missense_Mutation_p.G183R|CCKBR_uc001mct.1_5'Flank NM_176875 NP_795344 P32239 GASR_HUMAN cholecystokinin B receptor 183 Helical; Name=4; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding lung(5)|ovary(2)|breast(1) 8 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) GCTGCTGTCCGGACTACTCAT 0.667 NaN 0 0 0 0.146539 0 14 70 USH1C 10083 broad.mit.edu 37 11 17553040 17553040 + Missense_Mutation SNP C C T TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr11:17553040C>T uc001mnf.2 - 3 263 c.154G>A c.(154-156)GAA>AAA p.E52K USH1C_uc001mne.2_Missense_Mutation_p.E52K|USH1C_uc009yhb.2_Missense_Mutation_p.E52K|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Missense_Mutation_p.E16K NM_005709 NP_005700 Q9Y6N9 USH1C_HUMAN harmonin isoform a 52 equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding ovary(1) 1 CGGCTGGGTTCATTGATGACC 0.617 NaN 0 0 0 0.105934 0 9 46 RAB3IL1 5866 broad.mit.edu 37 11 61675662 61675662 + Missense_Mutation SNP G G C TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr11:61675662G>C uc001nso.2 - 2 286 c.128C>G c.(127-129)TCT>TGT p.S43C RAB3IL1_uc001nsp.2_Missense_Mutation_p.S90C NM_013401 NP_037533 Q8TBN0 R3GEF_HUMAN RAB3A interacting protein (rabin3)-like 1 43 protein binding skin(2)|central_nervous_system(1) 3 CTCCCCTGCAGAGGTCTCCAC 0.711 NaN 0 0 0 0.115264 0 3 11 MAP4K2 5871 broad.mit.edu 37 11 64557669 64557669 + Missense_Mutation SNP C C G rs148398112 TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr11:64557669C>G uc001obh.2 - 29 2331 c.2239G>C c.(2239-2241)GAG>CAG p.E747Q MAP4K2_uc001obg.2_RNA|MAP4K2_uc001obi.2_Missense_Mutation_p.E739Q NM_004579 NP_004570 Q12851 M4K2_HUMAN mitogen-activated protein kinase kinase kinase 747 CNH. activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting basolateral plasma membrane|Golgi membrane|soluble fraction ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(1)|pancreas(1) 2 CCCACAGTCTCGATGGGGAAA 0.617 NaN 0 0 0 0.09319 0 12 79 ATG2A 23130 broad.mit.edu 37 11 64662776 64662776 + Missense_Mutation SNP C C T TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr11:64662776C>T uc001obx.2 - 40 5681 c.5566G>A c.(5566-5568)GAC>AAC p.D1856N uc009ypx.2_5'Flank|ATG2A_uc001obw.2_Missense_Mutation_p.D621N NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1856 protein binding ovary(1)|central_nervous_system(1) 2 CGCACTGTGTCGTAGGCCTTG 0.706 NaN 0 0 0 0.021553 0 4 98 INPPL1 3636 broad.mit.edu 37 11 71949087 71949087 + Missense_Mutation SNP C C A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr11:71949087C>A uc001osf.2 + 27 3701 c.3554C>A c.(3553-3555)GCT>GAT p.A1185D INPPL1_uc001osg.2_Missense_Mutation_p.A943D NM_001567 NP_001558 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 1185 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding skin(2)|ovary(1)|breast(1) 4 TTTCCTTAGGCTCCGTGCCTG 0.657 NaN OREG0021191 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 0.000602214 0.014758 0.000622838 4 22 SLC35F2 54733 broad.mit.edu 37 11 107677535 107677535 + Missense_Mutation SNP C C T TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr11:107677535C>T uc001pjq.2 - 4 903 c.482G>A c.(481-483)AGA>AAA p.R161K SLC35F2_uc010rvu.1_Missense_Mutation_p.R13K|SLC35F2_uc001pjs.2_Missense_Mutation_p.R161K NM_017515 NP_059985 Q8IXU6 S35F2_HUMAN solute carrier family 35, member F2 161 transport integral to membrane central_nervous_system(1) 1 all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217) GTGGATCACTCTGTATCTTGC 0.458 NaN 0 0 0 0.160694 0 16 90 SDHD 6392 broad.mit.edu 37 11 111959637 111959637 + Silent SNP C C T TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr11:111959637C>T uc001pmz.2 + 3 277 c.216C>T c.(214-216)GTC>GTT p.V72V TIMM8B_uc001pmx.2_5'Flank|TIMM8B_uc001pmy.2_5'Flank NM_003002 NP_002993 O14521 DHSD_HUMAN succinate dehydrogenase complex, subunit D 72 Helical; (By similarity). respiratory electron transport chain|transport|tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain complex II electron carrier activity|heme binding|succinate dehydrogenase activity|ubiquinone binding 0 all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515) Succinic acid(DB00139) AGAGGGTTGTCAGTGTTTTGC 0.498 NaN Mis|N|F|S paraganglioma|pheochromocytoma Familial_Paragangliomas|Carney-Stratakis_syndrome|Cowden_syndrome 0 0 0 0.062417 0 22 63 APOA4 337 broad.mit.edu 37 11 116692360 116692360 + Nonsense_Mutation SNP G G T rs145317065 TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr11:116692360G>T uc001pps.1 - 3 518 c.414C>A c.(412-414)TAC>TAA p.Y138* NM_000482 NP_000473 apolipoprotein A-IV precursor 0 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) GCTGGTCCGCGTagggctcca 0.358 NaN 1 0 0.000978159 0.080935 0.00100478 11 42 MLL 4297 broad.mit.edu 37 11 118375024 118375024 + Missense_Mutation SNP C C T TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr11:118375024C>T uc001pta.2 + 27 8431 c.8408C>T c.(8407-8409)TCA>TTA p.S2803L MLL_uc001ptb.2_Missense_Mutation_p.S2806L NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2803 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) CAGCTCAGCTCATTGGAGTCA 0.443 NaN T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 0 0 0 0.014758 0 5 165 ROBO4 54538 broad.mit.edu 37 11 124755027 124755027 + Missense_Mutation SNP G G A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr11:124755027G>A uc001qbg.2 - 17 3051 c.2911C>T c.(2911-2913)CGG>TGG p.R971W ROBO4_uc010sas.1_Missense_Mutation_p.R826W NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout 971 angiogenesis|cell differentiation integral to membrane receptor activity ovary(1)|skin(1) 2 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) CTTCCCAGCCGCTGGGTGTGG 0.622 NaN 0 0 0 0.069288 0 17 81 GALNT8 26290 broad.mit.edu 37 12 4835834 4835834 + Missense_Mutation SNP G G C TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr12:4835834G>C uc001qne.1 + 2 440 c.348G>C c.(346-348)ATG>ATC p.M116I NM_017417 NP_059113 Q9NY28 GALT8_HUMAN polypeptide N-acetylgalactosaminyltransferase 8 116 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(1)|skin(1) 4 AAACCCAAATGAAACTCTTCC 0.498 NaN 0 0 0 0.115264 0 3 36 C12orf11 55726 broad.mit.edu 37 12 27077408 27077408 + Silent SNP C C A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr12:27077408C>A uc001rhk.3 - 7 1221 c.684G>T c.(682-684)CCG>CCT p.P228P C12orf11_uc010sjk.1_Silent_p.P127P NM_018164 NP_060634 Q9NVM9 M89BB_HUMAN hypothetical protein LOC55726 228 cell division|mitosis|regulation of mitotic cell cycle protein binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 Colorectal(261;0.0847) TGGTTAAAACCGGGGACAACT 0.318 NaN 1 0 2.47511e-08 0.134883 2.63198e-08 28 104 CYP27B1 1594 broad.mit.edu 37 12 58157882 58157882 + Missense_Mutation SNP T T G TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr12:58157882T>G uc001spz.1 - 7 1366 c.1214A>C c.(1213-1215)AAT>ACT p.N405T CYP27B1_uc001sqa.1_Missense_Mutation_p.N170T NM_000785 NP_000776 O15528 CP27B_HUMAN cytochrome P450, family 27, subfamily B, 405 bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process mitochondrial outer membrane calcidiol 1-monooxygenase activity|electron carrier activity|heme binding central_nervous_system(3) 3 all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294) Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153) TTTACTCACATTTTTGGGGAT 0.458 NaN 0 0 0 0.175082 0 17 44 KNTC1 9735 broad.mit.edu 37 12 123057784 123057784 + Missense_Mutation SNP G G C TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr12:123057784G>C uc001ucv.2 + 26 2398 c.2235G>C c.(2233-2235)ATG>ATC p.M745I KNTC1_uc010taf.1_Missense_Mutation_p.M708I NM_014708 NP_055523 P50748 KNTC1_HUMAN Rough Deal homolog, centromere/kinetochore 745 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding ovary(5)|kidney(3)|lung(1)|central_nervous_system(1) 10 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) GAGTTTACATGAGAGAACATG 0.398 NaN 0 0 0 0.173368 0 33 157 KNTC1 9735 broad.mit.edu 37 12 123057806 123057806 + Missense_Mutation SNP G G A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr12:123057806G>A uc001ucv.2 + 26 2420 c.2257G>A c.(2257-2259)GAG>AAG p.E753K KNTC1_uc010taf.1_Missense_Mutation_p.E716K NM_014708 NP_055523 P50748 KNTC1_HUMAN Rough Deal homolog, centromere/kinetochore 753 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding ovary(5)|kidney(3)|lung(1)|central_nervous_system(1) 10 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) CTTGCAAGAGGAGGAACTTCT 0.378 NaN 0 0 0 0.134883 0 28 153 DCLK1 9201 broad.mit.edu 37 13 36401843 36401843 + Missense_Mutation SNP G G C TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr13:36401843G>C uc001uvf.2 - 10 1569 c.1336C>G c.(1336-1338)CCC>GCC p.P446A DCLK1_uc001uve.3_Missense_Mutation_p.P139A|DCLK1_uc010teh.1_Missense_Mutation_p.P139A|DCLK1_uc010abk.2_Intron NM_004734 NP_004725 O15075 DCLK1_HUMAN doublecortin-like kinase 1 446 Protein kinase. cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity stomach(6)|ovary(2)|skin(1) 9 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) ACGATATTGGGATGCTTCACT 0.388 NaN 0 0 0 0.132662 0 15 105 LPAR6 10161 broad.mit.edu 37 13 48985928 48985928 + Nonsense_Mutation SNP A A C TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr13:48985928A>C uc010acu.2 - 1 1726 c.632T>G c.(631-633)TTA>TGA p.L211* RB1_uc001vcb.2_Intron|LPAR6_uc001vcc.1_Intron|LPAR6_uc001vce.2_Nonsense_Mutation_p.L211*|LPAR6_uc001vcf.2_Nonsense_Mutation_p.L211* NM_001162498 NP_001155970 P43657 LPAR6_HUMAN G-protein coupled purinergic receptor P2Y5 211 Cytoplasmic (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.?(4) ovary(4) 4 AGGTTTGGTTAAAGTTTTTAG 0.264 NaN 0 0 0 0.069234 0 10 61 CIDEB 27141 broad.mit.edu 37 14 24776597 24776597 + Missense_Mutation SNP G G A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr14:24776597G>A uc001won.2 - 2 290 c.166C>T c.(166-168)CGC>TGC p.R56C CIDEB_uc001woo.2_Missense_Mutation_p.R56C|CIDEB_uc001wop.2_Missense_Mutation_p.R56C|LTB4R2_uc001woq.1_5'Flank|LTB4R2_uc010alo.2_5'Flank|LTB4R2_uc001wor.2_5'Flank NM_014430 NP_055245 Q9UHD4 CIDEB_HUMAN cell death-inducing DFFA-like effector b 56 CIDE-N. apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis cytosol 0 GBM - Glioblastoma multiforme(265;0.0181) AGCTCCTGGCGGGTGGCAGCT 0.587 NaN 0 0 0 0.146539 0 15 114 PTGDR 5729 broad.mit.edu 37 14 52735281 52735281 + Missense_Mutation SNP G G A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr14:52735281G>A uc001wzq.2 + 1 851 c.749G>A c.(748-750)GGG>GAG p.G250E NM_000953 NP_000944 Q13258 PD2R_HUMAN prostaglandin D2 receptor 250 Cytoplasmic (Potential). integral to membrane|plasma membrane prostaglandin D receptor activity|protein binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 Breast(41;0.0639)|all_epithelial(31;0.0887) Nedocromil(DB00716) CGCGCGGACGGGAGGGAAGCG 0.667 NaN 0 0 0 0.183431 0 36 148 GPHB5 122876 broad.mit.edu 37 14 63784372 63784372 + Silent SNP C C T TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr14:63784372C>T uc010apu.2 - 1 192 c.192G>A c.(190-192)GTG>GTA p.V64V GPHB5_uc001xgc.2_Silent_p.V54V NM_145171 NP_660154 Q86YW7 GPHB5_HUMAN glycoprotein beta 5 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment extracellular region hormone activity breast(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978) TCCCAGGTCTCACAGCGACCC 0.532 NaN 0 0 0 0.02938 0 6 50 ACTN1 87 broad.mit.edu 37 14 69371375 69371375 + Missense_Mutation SNP C C T TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr14:69371375C>T uc001xkl.2 - 7 983 c.673G>A c.(673-675)GAA>AAA p.E225K ACTN1_uc010ttb.1_Missense_Mutation_p.E160K|ACTN1_uc001xkm.2_Missense_Mutation_p.E225K|ACTN1_uc001xkn.2_Missense_Mutation_p.E225K|ACTN1_uc001xko.1_Missense_Mutation_p.E160K|ACTN1_uc010ttd.1_Missense_Mutation_p.E204K NM_001102 NP_001093 P12814 ACTN1_HUMAN actinin, alpha 1 isoform b 225 CH 2.|Actin-binding. focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere actin binding|calcium ion binding|integrin binding|vinculin binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) CTTTCACCTTCGGCATCCAGC 0.567 NaN 0 0 0 0.047766 0 6 114 INO80 54617 broad.mit.edu 37 15 41372084 41372084 + Nonsense_Mutation SNP T T A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr15:41372084T>A uc001zni.2 - 9 1159 c.946A>T c.(946-948)AAG>TAG p.K316* INO80_uc010ucu.1_RNA NM_017553 NP_060023 Q9ULG1 INO80_HUMAN INO80 complex homolog 1 316 Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|DBINO. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity ovary(2)|pancreas(1)|skin(1) 4 CGCACCTCCTTCATGCACTGG 0.527 NaN 0 0 0 0.144211 0 30 200 SPG11 80208 broad.mit.edu 37 15 44876169 44876169 + Missense_Mutation SNP A A C TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr15:44876169A>C uc001ztx.2 - 30 5740 c.5709T>G c.(5707-5709)TTT>TTG p.F1903L SPG11_uc010bdw.2_Missense_Mutation_p.F192L|SPG11_uc010ueh.1_Missense_Mutation_p.F1903L|SPG11_uc010uei.1_Missense_Mutation_p.F1903L|SPG11_uc001zty.1_Missense_Mutation_p.F632L NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN spatacsin isoform 1 1903 Extracellular (Potential). cell death cytosol|integral to membrane|nucleus protein binding ovary(4)|skin(1) 5 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) CTGGATTATAAAAATGAAAAT 0.473 NaN 0 0 0 0.160694 0 16 65 SPG11 80208 broad.mit.edu 37 15 44876180 44876180 + Missense_Mutation SNP A A C TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr15:44876180A>C uc001ztx.2 - 30 5729 c.5698T>G c.(5698-5700)TAT>GAT p.Y1900D SPG11_uc010bdw.2_Missense_Mutation_p.Y189D|SPG11_uc010ueh.1_Missense_Mutation_p.Y1900D|SPG11_uc010uei.1_Missense_Mutation_p.Y1900D|SPG11_uc001zty.1_Missense_Mutation_p.Y629D NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN spatacsin isoform 1 1900 Extracellular (Potential). cell death cytosol|integral to membrane|nucleus protein binding ovary(4)|skin(1) 5 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) AAATGAAAATACCGGCATACT 0.473 NaN 0 0 0 0.175082 0 17 73 CSNK1G1 53944 broad.mit.edu 37 15 64496768 64496768 + Nonsense_Mutation SNP G G A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr15:64496768G>A uc002anf.2 - 9 1351 c.871C>T c.(871-873)CGA>TGA p.R291* CSNK1G1_uc002ane.2_RNA|CSNK1G1_uc002ang.1_Nonsense_Mutation_p.R291*|CSNK1G1_uc002anh.1_Nonsense_Mutation_p.R291*|CSNK1G1_uc002anj.2_Nonsense_Mutation_p.R273* NM_022048 NP_071331 Q9HCP0 KC1G1_HUMAN casein kinase 1, gamma 1 291 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity 0 CTGACATATCGAAGGTAGGTT 0.448 NaN 0 0 0 0.021553 0 4 148 CD276 80381 broad.mit.edu 37 15 73994784 73994784 + Missense_Mutation SNP G G A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr15:73994784G>A uc002avv.1 + 3 502 c.268G>A c.(268-270)GCC>ACC p.A90T CD276_uc010bjd.1_5'UTR|CD276_uc002avu.1_Missense_Mutation_p.A90T|CD276_uc002avw.1_Missense_Mutation_p.A90T|CD276_uc010ulb.1_Missense_Mutation_p.A36T|CD276_uc002avx.2_5'Flank NM_001024736 NP_001019907 Q5ZPR3 CD276_HUMAN CD276 antigen isoform a 90 Ig-like V-type 1.|Extracellular (Potential). cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation external side of plasma membrane|integral to membrane receptor binding skin(1) 1 CAGCGCCTATGCCAACCGCAC 0.642 NaN 0 0 0 0.014758 0 5 60 AGBL1 123624 broad.mit.edu 37 15 87217600 87217600 + Nonsense_Mutation SNP C C T TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr15:87217600C>T uc002blz.1 + 22 3096 c.3016C>T c.(3016-3018)CAG>TAG p.Q1006* NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 1006 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 CTGCAGCCATCAGCTCCTGGC 0.562 NaN 0 0 0 0.02938 0 7 24 MSLNL 401827 broad.mit.edu 37 16 823284 823284 + Missense_Mutation SNP C C T TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr16:823284C>T uc002cjz.1 - 10 1984 c.1984G>A c.(1984-1986)GCC>ACC p.A662T NM_001025190 NP_001020361 Q96KJ4 MSLNL_HUMAN mesothelin-like 311 Extracellular (Potential). cell adhesion integral to membrane breast(3)|ovary(1) 4 CGCAGCGTGGCGGCCGTGATG 0.652 NaN 0 0 0 0.146539 0 17 80 ZNF597 146434 broad.mit.edu 37 16 3486866 3486866 + Missense_Mutation SNP T T G TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr16:3486866T>G uc002cvd.2 - 4 1017 c.833A>C c.(832-834)AAT>ACT p.N278T NM_152457 NP_689670 Q96LX8 ZN597_HUMAN zinc finger protein 597 278 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGGTTTCTCATTAAAATGTTT 0.443 NaN 0 0 0 0.080422 0 36 204 C16orf89 146556 broad.mit.edu 37 16 5110356 5110356 + Missense_Mutation SNP G G A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr16:5110356G>A uc010bud.2 - 3 642 c.554C>T c.(553-555)ACG>ATG p.T185M ALG1_uc002cyj.2_Intron|C16orf89_uc002cyk.3_Missense_Mutation_p.T185M NM_152459 NP_689672 Q6UX73 CP089_HUMAN hypothetical protein LOC146556 isoform 1 147 extracellular region ovary(1)|skin(1) 2 GGGCCCGAACGTGGGGTACAC 0.597 NaN 0 0 0 0.11911 0 14 69 UMOD 7369 broad.mit.edu 37 16 20352631 20352631 + Silent SNP G G A rs144461487 TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr16:20352631G>A uc002dgz.2 - 7 1488 c.1359C>T c.(1357-1359)ACC>ACT p.T453T UMOD_uc002dha.2_Silent_p.T453T|UMOD_uc002dhb.2_Silent_p.T486T NM_003361 NP_003352 P07911 UROM_HUMAN uromodulin precursor 453 ZP. cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding ovary(1)|skin(1) 2 TGAACATGCCGGTCCCGCCCA 0.587 NaN 0 0 0 0.043863 0 17 79 CDH8 1006 broad.mit.edu 37 16 61891104 61891104 + Missense_Mutation SNP C C A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr16:61891104C>A uc002eog.1 - 4 838 c.586G>T c.(586-588)GAC>TAC p.D196Y CDH8_uc002eoh.2_5'UTR NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 196 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TAAACTGGGTCATCAGCGTCG 0.388 NaN 1 0 7.93312e-07 0.11911 8.31876e-07 14 55 SF3B3 23450 broad.mit.edu 37 16 70575582 70575582 + Nonsense_Mutation SNP C C T TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr16:70575582C>T uc002ezf.2 + 9 1289 c.1078C>T c.(1078-1080)CAA>TAA p.Q360* NM_012426 NP_036558 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3 360 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(1) 1 Ovarian(137;0.0694) TTACTTATATCAAATTGCACA 0.413 NaN 0 0 0 0.104719 0 36 214 HYDIN 54768 broad.mit.edu 37 16 70884498 70884498 + Silent SNP G G A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr16:70884498G>A uc002ezr.2 - 74 12629 c.12501C>T c.(12499-12501)ATC>ATT p.I4167I HYDIN_uc010cfy.2_RNA NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 4168 ovary(1)|skin(1) 2 Ovarian(137;0.0654) CCACATTGCAGATCAAATTAA 0.448 NaN 0 0 0 0.069234 0 10 65 ARHGEF15 22899 broad.mit.edu 37 17 8216353 8216353 + Missense_Mutation SNP C C T TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr17:8216353C>T uc002glc.2 + 3 836 c.715C>T c.(715-717)CGT>TGT p.R239C ARHGEF15_uc002glb.1_3'UTR|ARHGEF15_uc002gld.2_Missense_Mutation_p.R239C|ARHGEF15_uc010vuw.1_Intron NM_173728 NP_776089 O94989 ARHGF_HUMAN Rho guanine exchange factor 15 239 negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 CAGGGTCCCCCGTCGGGCCTC 0.706 NaN 0 0 0 0.058154 0 10 170 MYH2 4620 broad.mit.edu 37 17 10448678 10448678 + Nonsense_Mutation SNP G G A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr17:10448678G>A uc010coi.2 - 5 618 c.490C>T c.(490-492)CAG>TAG p.Q164* uc002gml.1_Intron|MYH2_uc002gmp.3_Nonsense_Mutation_p.Q164*|MYH2_uc010coj.2_Nonsense_Mutation_p.Q164* NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 164 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 AGCATGAACTGATAGGCGTTG 0.532 NaN 0 0 0 0.139131 0 43 283 MPRIP 23164 broad.mit.edu 37 17 17080692 17080692 + Silent SNP G G A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr17:17080692G>A uc002gqu.1 + 21 2981 c.2925G>A c.(2923-2925)GAG>GAA p.E975E MPRIP_uc002gqv.1_Silent_p.E975E|MPRIP_uc002gqw.1_Silent_p.E730E|MPRIP_uc002gqx.1_Silent_p.E1204E|MPRIP_uc002gqy.1_Silent_p.E1204E|MPRIP_uc010cpl.1_Silent_p.E161E|MPRIP_uc010cpm.1_Silent_p.E161E NM_201274 NP_958431 Q6WCQ1 MPRIP_HUMAN myosin phosphatase-Rho interacting protein 975 Potential. cytoplasm|cytoskeleton actin binding 0 CACTGGGGGAGAAGTCCCCTG 0.577 NaN 0 0 0 0.021553 0 6 90 MPRIP 23164 broad.mit.edu 37 17 17080713 17080713 + Silent SNP G G A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr17:17080713G>A uc002gqu.1 + 21 3002 c.2946G>A c.(2944-2946)ACG>ACA p.T982T MPRIP_uc002gqv.1_Silent_p.T982T|MPRIP_uc002gqw.1_Silent_p.T737T|MPRIP_uc002gqx.1_Silent_p.T1211T|MPRIP_uc002gqy.1_Silent_p.T1211T|MPRIP_uc010cpl.1_Silent_p.T168T|MPRIP_uc010cpm.1_Silent_p.T168T NM_201274 NP_958431 Q6WCQ1 MPRIP_HUMAN myosin phosphatase-Rho interacting protein 982 cytoplasm|cytoskeleton actin binding 0 ACAGTGCCACGGTGTCCGGAT 0.587 NaN 0 0 0 0.021553 0 6 72 ACE 1636 broad.mit.edu 37 17 61568636 61568636 + Missense_Mutation SNP G G A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr17:61568636G>A uc002jau.1 + 19 2828 c.2806G>A c.(2806-2808)GTG>ATG p.V936M ACE_uc002jav.1_Missense_Mutation_p.V362M|ACE_uc010ddv.1_Missense_Mutation_p.V163M|ACE_uc010wpj.1_Missense_Mutation_p.V362M|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Missense_Mutation_p.V182M NM_000789 NP_000780 P12821 ACE_HUMAN angiotensin I converting enzyme 1 isoform 1 936 Extracellular (Potential).|Peptidase M2 2. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) GCTGCTGCCCGTGCCTCCTGA 0.617 NaN 0 0 0 0.09319 0 13 101 CCDC40 55036 broad.mit.edu 37 17 78022498 78022498 + Missense_Mutation SNP G G A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr17:78022498G>A uc010dht.2 + 5 820 c.793G>A c.(793-795)GAG>AAG p.E265K CCDC40_uc010wub.1_Missense_Mutation_p.E265K|CCDC40_uc002jxm.3_Missense_Mutation_p.E48K NM_017950 NP_060420 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 265 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm ovary(3) 3 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) AGTGGAGTCCGAGGGGAGTGA 0.612 NaN 0 0 0 0.038147 0 8 52 RPTOR 57521 broad.mit.edu 37 17 78704398 78704398 + Silent SNP G G A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr17:78704398G>A uc002jyt.1 + 5 1351 c.546G>A c.(544-546)CTG>CTA p.L182L RPTOR_uc002jys.2_Silent_p.L182L|RPTOR_uc010wuf.1_5'UTR|RPTOR_uc010wug.1_Silent_p.L182L NM_020761 NP_065812 Q8N122 RPTOR_HUMAN raptor isoform 1 182 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding lung(4)|urinary_tract(1)|ovary(1) 6 TATATGACCTGCAGACGTGGA 0.532 NaN 0 0 0 0.11911 0 13 94 C18orf8 29919 broad.mit.edu 37 18 21110070 21110070 + Missense_Mutation SNP C C T TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr18:21110070C>T uc010xax.1 + 18 1694 c.1573C>T c.(1573-1575)CAC>TAC p.H525Y C18orf8_uc002kul.2_RNA|C18orf8_uc010xay.1_Missense_Mutation_p.H149Y|NPC1_uc010dlu.1_Intron NM_013326 NP_037458 Q96DM3 MIC1_HUMAN colon cancer-associated protein Mic1 525 Mic1. ovary(1) 1 all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127) CCTGCAGTACCACGTCCTCAG 0.393 NaN 0 0 0 0.139131 0 46 421 HRH4 59340 broad.mit.edu 37 18 22048844 22048844 + Missense_Mutation SNP C C G TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr18:22048844C>G uc002kvi.2 + 2 386 c.286C>G c.(286-288)CTG>GTG p.L96V HRH4_uc010xbd.1_Intron|HRH4_uc010dlx.2_Intron NM_021624 NP_067637 Q9H3N8 HRH4_HUMAN histamine H4 receptor isoform 1 96 Helical; Name=3; (Potential). integral to membrane|plasma membrane histamine receptor activity ovary(2) 2 all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) Clozapine(DB00363) TACTGACTATCTGTTATGTAC 0.408 NaN 0 0 0 0.049695 0 20 71 ZNF521 25925 broad.mit.edu 37 18 22805418 22805418 + Missense_Mutation SNP T T C TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr18:22805418T>C uc002kvk.2 - 4 2711 c.2464A>G c.(2464-2466)ATT>GTT p.I822V ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.I822V|ZNF521_uc002kvl.2_Missense_Mutation_p.I602V NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 822 C2H2-type 20. cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TCTAACAAAATGATCGCATGG 0.468 NaN T PAX5 ALL 0 0 0 0.175082 0 18 200 PALM 5064 broad.mit.edu 37 19 746578 746578 + Missense_Mutation SNP G G A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr19:746578G>A uc002lpm.1 + 9 1122 c.928G>A c.(928-930)GAT>AAT p.D310N PALM_uc002lpn.1_Missense_Mutation_p.D266N|PALM_uc010xfu.1_Missense_Mutation_p.D175N NM_002579 NP_002570 O75781 PALM_HUMAN paralemmin isoform 1 310 cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane 0 all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201) GAACGTGGAGGATGAGGCCGA 0.657 NaN 0 0 0 0.080935 0 9 40 SYCE2 256126 broad.mit.edu 37 19 13029049 13029049 + Missense_Mutation SNP C C T TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr19:13029049C>T uc002mvr.2 - 2 133 c.118G>A c.(118-120)GGA>AGA p.G40R NM_001105578 NP_001099048 Q6PIF2 SYCE2_HUMAN synaptonemal complex central element protein 2 40 cell division central element 0 GCTGGCCCTCCACCAGCTTCC 0.597 NaN 0 0 0 0.09319 0 11 69 MLL4 9757 broad.mit.edu 37 19 36211795 36211795 + Missense_Mutation SNP A A G TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 A G A A Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr19:36211795A>G uc010eei.2 + 3 1546 c.1546A>G c.(1546-1548)AAA>GAA p.K516E NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 516 Pro-rich. chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CGTGGCCCCCAAAAGCACCAC 0.622 NaN 0 0 0 0.014758 0 5 16 PAF1 54623 broad.mit.edu 37 19 39876761 39876761 + Missense_Mutation SNP C C G TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr19:39876761C>G uc002old.2 - 14 1641 c.1466G>C c.(1465-1467)GGT>GCT p.G489A PAF1_uc002ole.1_Missense_Mutation_p.V418L NM_019088 NP_061961 Q8N7H5 PAF1_HUMAN Paf1, RNA polymerase II associated factor, 489 histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding pancreas(1) 1 all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) CCGCTGGCCACCCCCATTGCT 0.617 NaN 0 0 0 0.09319 0 7 85 KLK1 3816 broad.mit.edu 37 19 51323464 51323464 + Missense_Mutation SNP C C G TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr19:51323464C>G uc002ptk.1 - 3 481 c.442G>C c.(442-444)GAA>CAA p.E148Q KLK1_uc010ycg.1_RNA NM_002257 NP_002248 P06870 KLK1_HUMAN kallikrein 1 preproprotein 148 Peptidase S1. proteolysis nucleus serine-type endopeptidase activity 0 all_neural(266;0.0199) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTCCCCACTTCGGGTTCCTCG 0.607 NaN 0 0 0 0.083992 0 14 106 SMYD1 150572 broad.mit.edu 37 2 88409880 88409880 + Missense_Mutation SNP G G A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr2:88409880G>A uc002ssr.2 + 10 1324 c.1322G>A c.(1321-1323)CGG>CAG p.R441Q SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_Missense_Mutation_p.R137Q NM_198274 NP_938015 Q8NB12 SMYD1_HUMAN SET and MYND domain containing 1 441 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding ovary(2)|lung(1)|skin(1) 4 CAGGCCATGCGGGTGCAGACG 0.532 NaN 0 0 0 0.069234 0 10 24 RND3 390 broad.mit.edu 37 2 151326590 151326590 + Missense_Mutation SNP G G A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr2:151326590G>A uc002txe.2 - 5 890 c.646C>T c.(646-648)CGG>TGG p.R216W RND3_uc002txf.2_Missense_Mutation_p.R215W|RND3_uc002txg.2_Missense_Mutation_p.R216W|RND3_uc010zbv.1_Intron|RND3_uc010zbw.1_Missense_Mutation_p.R79W NM_005168 NP_005159 P61587 RND3_HUMAN ras homolog gene family, member E precursor 216 actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction Golgi membrane GTP binding|GTPase activity lung(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.106) TGTGAAATCCGCTTTGTGGCT 0.438 NaN 0 0 0 0.038147 0 8 150 SPC25 57405 broad.mit.edu 37 2 169732631 169732631 + Silent SNP A A G TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr2:169732631A>G uc002uel.2 - 5 533 c.402T>C c.(400-402)TCT>TCC p.S134S NM_020675 NP_065726 Q9HBM1 SPC25_HUMAN spindle pole body component 25 134 Potential.|Interaction with the N-terminus of SPBC24. cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding central_nervous_system(1) 1 ACAAGTCTGCAGATTTCTGCA 0.284 NaN 0 0 0 0.115264 0 3 40 RFTN2 130132 broad.mit.edu 37 2 198540158 198540158 + Missense_Mutation SNP C C T TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr2:198540158C>T uc002uuo.3 - 1 427 c.25G>A c.(25-27)GAA>AAA p.E9K NM_144629 NP_653230 Q52LD8 RFTN2_HUMAN raftlin family member 2 9 plasma membrane 0 TCAGGGTCTTCTAGCTTTCTA 0.423 NaN 0 0 0 0.139131 0 74 189 FLRT3 23767 broad.mit.edu 37 20 14307451 14307451 + Silent SNP C C G TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr20:14307451C>G uc002wov.1 - 3 1169 c.702G>C c.(700-702)CGG>CGC p.R234R MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Silent_p.R234R NM_198391 NP_938205 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 234 Extracellular (Potential).|LRR 8. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity kidney(1) 1 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) TCAGGGAATTCCGCACCAGGG 0.443 NaN 0 0 0 0.105934 0 12 99 GINS1 9837 broad.mit.edu 37 20 25405846 25405846 + Splice_Site SNP G G A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr20:25405846G>A uc002wuv.1 + 5 465 c.331_splice c.e5-1 p.M111_splice GINS1_uc010zte.1_Splice_Site NM_021067 NP_066545 Q14691 PSF1_HUMAN GINS complex subunit 1 DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle cytoplasm|nucleoplasm ovary(1)|central_nervous_system(1) 2 TATGTTTGCAGATGGAGTGGT 0.363 NaN 0 0 0 0.083992 0 24 89 ZNF337 26152 broad.mit.edu 37 20 25666702 25666702 + Silent SNP C C T TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr20:25666702C>T uc002wva.2 - 2 606 c.84G>A c.(82-84)CTG>CTA p.L28L ZNF337_uc010ztg.1_Silent_p.L28L|ZNF337_uc002wvb.2_Silent_p.L28L|ZNF337_uc002wvc.2_Silent_p.L28L NM_015655 NP_056470 Q9Y3M9 ZN337_HUMAN zinc finger protein 337 28 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CAGGGCTCAGCAGCCTCCATT 0.547 NaN 0 0 0 0.131918 0 40 268 BPIL1 80341 broad.mit.edu 37 20 31606901 31606901 + Missense_Mutation SNP C C G TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr20:31606901C>G uc002wyj.2 + 10 1083 c.889C>G c.(889-891)CTG>GTG p.L297V NM_025227 NP_079503 Q8N4F0 BPIL1_HUMAN bactericidal/permeability-increasing 297 extracellular region lipid binding skin(2)|large_intestine(1)|ovary(1) 4 CACCTCTGCTCTGGGCCGGCT 0.567 NaN 0 0 0 0.134883 0 27 203 SEMG1 6406 broad.mit.edu 37 20 43836572 43836572 + Missense_Mutation SNP A A G TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr20:43836572A>G uc002xni.2 + 2 691 c.634A>G c.(634-636)AAT>GAT p.N212D SEMG1_uc002xnj.2_Missense_Mutation_p.N212D|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Missense_Mutation_p.N212D NM_003007 NP_002998 P04279 SEMG1_HUMAN semenogelin I preproprotein 212 42 AA repeat 1. insemination|sexual reproduction extracellular space|stored secretory granule structural molecule activity skin(2) 2 Myeloproliferative disorder(115;0.0122) TGAGACTAAAAATTCTCATCA 0.408 NaN 0 0 0 0.09319 0 12 137 CDH22 64405 broad.mit.edu 37 20 44879792 44879792 + Missense_Mutation SNP C C T TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr20:44879792C>T uc002xrm.2 - 1 543 c.142G>A c.(142-144)GGA>AGA p.G48R CDH22_uc010ghk.1_Missense_Mutation_p.G48R NM_021248 NP_067071 Q9UJ99 CAD22_HUMAN cadherin 22 precursor 48 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|skin(1) 5 Myeloproliferative disorder(115;0.0122) TGCCGAGCTCCGGGCGCCGAC 0.587 NaN 0 0 0 0.049695 0 14 15 PDXK 8566 broad.mit.edu 37 21 45173597 45173597 + Silent SNP C C T rs138572525 TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr21:45173597C>T uc002zdm.3 + 9 954 c.756C>T c.(754-756)CTC>CTT p.L252L PDXK_uc010gpj.2_Silent_p.L252L|PDXK_uc002zdn.3_Silent_p.L224L|PDXK_uc002zdq.3_Silent_p.L179L NM_003681 NP_003672 O00764 PDXK_HUMAN pyridoxal kinase 252 cell proliferation|pyridoxal 5'-phosphate salvage cytosol ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding 0 Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18) Pyridoxal(DB00147)|Pyridoxine(DB00165) CCAATAACCTCAAGGTCAGCC 0.622 NaN 0 0 0 0.105934 0 14 116 LSS 4047 broad.mit.edu 37 21 47627356 47627356 + Missense_Mutation SNP C C T TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr21:47627356C>T uc002zij.2 - 15 1532 c.1453G>A c.(1453-1455)GAT>AAT p.D485N LSS_uc011afv.1_Missense_Mutation_p.D474N|LSS_uc002zil.2_Missense_Mutation_p.D485N|LSS_uc002zik.2_Missense_Mutation_p.D405N NM_001001438 NP_001001438 P48449 ERG7_HUMAN lanosterol synthase isoform 1 485 PFTB 2. cholesterol biosynthetic process endoplasmic reticulum membrane lanosterol synthase activity 0 Breast(49;0.214) GCCACAGCATCGCAGAGCCGT 0.612 NaN 0 0 0 0.058154 0 10 17 C22orf29 79680 broad.mit.edu 37 22 19839452 19839452 + Silent SNP C C T TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr22:19839452C>T uc002zqg.2 - 2 932 c.333G>A c.(331-333)CCG>CCA p.P111P GNB1L_uc002zqd.1_Intron|GNB1L_uc002zqe.1_Intron|GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.2_Silent_p.P111P|C22orf29_uc002zqi.2_Silent_p.P111P|C22orf29_uc010grt.1_Intron NM_024627 NP_078903 Q7L3V2 CV029_HUMAN hypothetical protein LOC79680 111 0 Colorectal(54;0.0993) CCAGTAGCCACGGGGAGCCAT 0.607 NaN 0 0 0 0.055883 0 18 133 ASPHD2 57168 broad.mit.edu 37 22 26839131 26839131 + Missense_Mutation SNP G G A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr22:26839131G>A uc003acg.2 + 4 1466 c.1069G>A c.(1069-1071)GAA>AAA p.E357K NM_020437 NP_065170 Q6ICH7 ASPH2_HUMAN aspartate beta-hydroxylase domain containing 2 357 Lumenal (Potential). peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity ovary(1) 1 CGCAGCGGCCGAACGGCAGGC 0.607 NaN 0 0 0 0.139131 0 64 303 LARGE 9215 broad.mit.edu 37 22 34157439 34157439 + Missense_Mutation SNP G G A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr22:34157439G>A uc003and.3 - 3 604 c.25C>T c.(25-27)CGG>TGG p.R9W LARGE_uc003ane.3_Missense_Mutation_p.R9W|LARGE_uc010gwp.2_Missense_Mutation_p.R9W|LARGE_uc011ame.1_Intron|LARGE_uc011amf.1_Missense_Mutation_p.R9W NM_004737 NP_004728 O95461 LARGE_HUMAN like-glycosyltransferase 9 Cytoplasmic (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) AAGAATTTCCGTCTCCCCCTG 0.532 NaN 0 0 0 0.02938 0 7 163 MICALL1 85377 broad.mit.edu 37 22 38329085 38329085 + Silent SNP C C G TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr22:38329085C>G uc003aui.2 + 13 2358 c.2274C>G c.(2272-2274)GTC>GTG p.V758V NM_033386 NP_203744 Q8N3F8 MILK1_HUMAN molecule interacting with Rab13 758 cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1) 1 Melanoma(58;0.045) AGGCTGATGTCGAGTATGAGC 0.632 NaN 0 0 0 0.09319 0 12 91 KLHDC7B 113730 broad.mit.edu 37 22 50987674 50987674 + Missense_Mutation SNP G G A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr22:50987674G>A uc003bmi.2 + 1 1213 c.1079G>A c.(1078-1080)GGG>GAG p.G360E NM_138433 NP_612442 Q96G42 KLD7B_HUMAN kelch domain containing 7B 360 Kelch 2. central_nervous_system(1) 1 all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TTTCTGGCGGGGGGCATCCGT 0.667 NaN 0 0 0 0.144211 0 27 123 CPT1B 1375 broad.mit.edu 37 22 51009598 51009598 + Missense_Mutation SNP C C T TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr22:51009598C>T uc003bmk.3 - 14 2026 c.1864G>A c.(1864-1866)GGG>AGG p.G622R CPT1B_uc003bml.2_Missense_Mutation_p.G622R|CPT1B_uc003bmm.2_Missense_Mutation_p.G622R|CPT1B_uc003bmo.2_Missense_Mutation_p.G622R|CPT1B_uc011asa.1_Missense_Mutation_p.G588R|CPT1B_uc003bmn.2_Missense_Mutation_p.G622R|CPT1B_uc011asb.1_Missense_Mutation_p.G541R|CHKB-CPT1B_uc003bmp.2_Missense_Mutation_p.G417R|uc003bmr.1_RNA NM_001145137 NP_001138609 Q92523 CPT1B_HUMAN carnitine palmitoyltransferase 1B isoform a 622 Cytoplasmic (Potential). carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity ovary(1)|central_nervous_system(1) 2 all_cancers(38;8.8e-15)|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) all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207) GTGTGGGACCCCTCCATCATG 0.612 NaN 0 0 0 0.049695 0 19 109 HEG1 57493 broad.mit.edu 37 3 124728594 124728594 + Missense_Mutation SNP T T C TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr3:124728594T>C uc003ehs.3 - 8 3216 c.3148A>G c.(3148-3150)AAA>GAA p.K1050E HEG1_uc011bke.1_Missense_Mutation_p.K1150E NM_020733 NP_065784 Q9ULI3 HEG1_HUMAN HEG homolog 1 precursor 1050 Extracellular (Potential).|EGF-like 2; calcium-binding (Potential). extracellular region|integral to membrane calcium ion binding ovary(2) 2 ACCGGGCATTTGCAGATAAAG 0.428 NaN 0 0 0 0.058154 0 9 41 STAG1 10274 broad.mit.edu 37 3 136088080 136088080 + Silent SNP T T C rs143784838 byFrequency TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr3:136088080T>C uc003era.1 - 24 2707 c.2415A>G c.(2413-2415)CAA>CAG p.Q805Q STAG1_uc003erb.1_Silent_p.Q805Q|STAG1_uc003erc.1_Silent_p.Q579Q NM_005862 NP_005853 Q8WVM7 STAG1_HUMAN stromal antigen 1 805 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(2) 2 CTGTCATTAATTGGTGGCTGA 0.393 NaN 0 0 0 0.043863 0 18 84 RBP2 5948 broad.mit.edu 37 3 139181129 139181129 + Missense_Mutation SNP A A G rs142756165 TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr3:139181129A>G uc003eth.2 - 2 128 c.77T>C c.(76-78)ATT>ACT p.I26T NM_004164 NP_004155 P50120 RET2_HUMAN retinol binding protein 2, cellular 26 epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process cytosol retinal binding|retinol binding|transporter activity skin(1) 1 Vitamin A(DB00162) GGCAAAATCAATATCTGTTGG 0.428 NaN 0 0 0 0.049695 0 19 114 MLF1 4291 broad.mit.edu 37 3 158314703 158314703 + Missense_Mutation SNP G G C TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr3:158314703G>C uc003fcb.2 + 3 385 c.248G>C c.(247-249)AGA>ACA p.R83T MLF1_uc003fbz.2_Missense_Mutation_p.R58T|MLF1_uc003fca.2_Missense_Mutation_p.R58T|MLF1_uc003fbx.2_Missense_Mutation_p.R73T|MLF1_uc003fcc.2_Missense_Mutation_p.R114T|MLF1_uc003fby.2_Missense_Mutation_p.R9T|MLF1_uc010hvx.2_Missense_Mutation_p.R58T NM_022443 NP_071888 P58340 MLF1_HUMAN myeloid leukemia factor 1 isoform 1 83 Interaction with COPS3. cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein domain specific binding 0 Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299) Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256) TCAAATATGAGAAACTATATG 0.299 NaN T NPM1 AML 0 0 0 0.132662 0 13 35 SLC2A2 6514 broad.mit.edu 37 3 170716012 170716012 + Silent SNP G G A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr3:170716012G>A uc003fhe.1 - 10 1653 c.1344C>T c.(1342-1344)TTC>TTT p.F448F SLC2A2_uc003fhf.1_Silent_p.F275F|SLC2A2_uc011bpu.1_Silent_p.F321F NM_000340 NP_000331 P11168 GTR2_HUMAN solute carrier family 2 (facilitated glucose 448 Helical; Name=11; (Potential). carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane|membrane fraction D-glucose transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14) GAGCTACAATGAAATTGCAGG 0.458 NaN 0 0 0 0.132662 0 16 88 SORBS2 8470 broad.mit.edu 37 4 186544867 186544867 + Silent SNP C C A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr4:186544867C>A uc003iyl.2 - 13 2562 c.1704G>T c.(1702-1704)CGG>CGT p.R568R SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Silent_p.R668R|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Silent_p.R472R|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Silent_p.R682R|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron NM_021069 NP_066547 O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 isoform 2 568 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(1) 1 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) GGCAGCCTCGCCGGCCCCGAG 0.592 NaN 1 0 0.00307968 0.038147 0.0031421 6 56 IRX1 79192 broad.mit.edu 37 5 3600733 3600733 + Silent SNP C C T TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr5:3600733C>T uc003jde.2 + 3 1375 c.1323C>T c.(1321-1323)CTC>CTT p.L441L NM_024337 NP_077313 P78414 IRX1_HUMAN iroquois homeobox protein 1 441 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 AGAGAGACCTCGTCCCCAGGC 0.617 NaN 0 0 0 0.058154 0 10 141 TRIO 7204 broad.mit.edu 37 5 14359563 14359563 + Missense_Mutation SNP G G C TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr5:14359563G>C uc003jff.2 + 13 2320 c.2314G>C c.(2314-2316)GAG>CAG p.E772Q TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.E723Q|TRIO_uc003jfh.1_Missense_Mutation_p.E421Q NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 772 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) GTCGCAGATGGAGGAGCTCTT 0.617 NaN 0 0 0 0.058154 0 8 104 TRIM23 373 broad.mit.edu 37 5 64906836 64906836 + Missense_Mutation SNP C C A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr5:64906836C>A uc003jty.2 - 5 766 c.680G>T c.(679-681)CGA>CTA p.R227L TRIM23_uc003jtw.2_Missense_Mutation_p.R227L|TRIM23_uc003jtx.2_Missense_Mutation_p.R227L NM_001656 NP_001647 P36406 TRI23_HUMAN ADP-ribosylation factor domain protein 1 isoform 227 interspecies interaction between organisms|small GTPase mediated signal transduction Golgi membrane|lysosomal membrane enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|lung(1) 4 Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234) Lung(70;0.00473) AATTGATGCTCGGATCTGATT 0.333 NaN 1 0 0.00909568 0.150653 0.00921777 3 51 MAP1B 4131 broad.mit.edu 37 5 71493610 71493610 + Missense_Mutation SNP G G C TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr5:71493610G>C uc003kbw.3 + 5 4669 c.4428G>C c.(4426-4428)AAG>AAC p.K1476N MAP1B_uc010iyw.1_Missense_Mutation_p.K1493N|MAP1B_uc010iyx.1_Missense_Mutation_p.K1350N|MAP1B_uc010iyy.1_Missense_Mutation_p.K1350N NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1476 microtubule|microtubule associated complex structural molecule activity large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) GCCAAGAAAAGAAAACTGATG 0.408 NaN 0 0 0 0.083992 0 24 79 ARSB 411 broad.mit.edu 37 5 78076390 78076390 + Missense_Mutation SNP C C T TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr5:78076390C>T uc003kfq.2 - 8 2718 c.1432G>A c.(1432-1434)GAT>AAT p.D478N NM_000046 NP_000037 P15848 ARSB_HUMAN arylsulfatase B isoform 1 precursor 478 lysosomal transport|lysosome organization lysosome arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity upper_aerodigestive_tract(1) 1 all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34) GGGTCCCGATCAATATCAAAG 0.498 NaN 0 0 0 0.150653 0 4 80 PAPD4 167153 broad.mit.edu 37 5 78964813 78964813 + Silent SNP C C G TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr5:78964813C>G uc010jae.1 + 13 1588 c.1170C>G c.(1168-1170)CTC>CTG p.L390L PAPD4_uc003kgb.2_Silent_p.L390L|PAPD4_uc010jaf.1_Silent_p.L390L|PAPD4_uc003kga.2_Silent_p.L386L|PAPD4_uc003kfz.2_Silent_p.L347L NM_001114393 NP_001107865 Q6PIY7 GLD2_HUMAN PAP associated domain containing 4 390 PAP-associated. histone mRNA catabolic process|mRNA processing|RNA polyadenylation cytoplasm ATP binding|metal ion binding|polynucleotide adenylyltransferase activity ovary(1) 1 Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36) TTGGGGACCTCTTACTGGGCT 0.318 NaN 0 0 0 0.139131 0 64 197 CKMT2 1160 broad.mit.edu 37 5 80561982 80561982 + Missense_Mutation SNP G G A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr5:80561982G>A uc003khc.3 + 11 1407 c.1165G>A c.(1165-1167)GAT>AAT p.D389N RNU5E_uc011cto.1_Intron|CKMT2_uc010jaq.2_Missense_Mutation_p.D389N|CKMT2_uc003khd.3_Missense_Mutation_p.D389N|uc003khe.1_Intron|uc003khf.1_Intron|uc003khg.1_Intron NM_001825 NP_001816 P17540 KCRS_HUMAN sarcomeric mitochondrial creatine kinase 389 Phosphagen kinase C-terminal. creatine metabolic process|muscle contraction mitochondrial inner membrane ATP binding|creatine kinase activity 0 Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336) OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34) Creatine(DB00148) GATAGTCATCGATGGAGTCAA 0.418 NaN 0 0 0 0.083992 0 26 253 FER 2241 broad.mit.edu 37 5 108436173 108436173 + Silent SNP C C T TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr5:108436173C>T uc003kop.1 + 17 2385 c.2001C>T c.(1999-2001)GAC>GAT p.D667D FER_uc011cvg.1_Silent_p.D492D NM_005246 NP_005237 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 667 Protein kinase. intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity lung(2)|stomach(1)|ovary(1)|kidney(1) 5 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) TTTCATTAGACGCTGCTGCTG 0.348 NaN 0 0 0 0.038147 0 7 65 PCDHGA1 56114 broad.mit.edu 37 5 140710506 140710506 + Silent SNP C C T TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr5:140710506C>T uc003lji.1 + 1 255 c.255C>T c.(253-255)ATC>ATT p.I85I PCDHGA1_uc011dan.1_Silent_p.I85I NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 85 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|breast(1)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAGCTTGATCACCGCGCGCA 0.547 NaN 0 0 0 0.083992 0 19 205 PCDHGA4 56111 broad.mit.edu 37 5 140736823 140736823 + Missense_Mutation SNP G G T TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr5:140736823G>T uc003ljq.1 + 1 2056 c.2056G>T c.(2056-2058)GAC>TAC p.D686Y PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGB2_uc003ljs.1_5'Flank|PCDHGA4_uc003ljp.1_Missense_Mutation_p.D686Y|PCDHGB2_uc011dar.1_5'Flank NM_018917 NP_061740 Q9Y5G9 PCDG4_HUMAN protocadherin gamma subfamily A, 4 isoform 1 686 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGACCCAGACGACTCGGGCCT 0.617 NaN 1 0 1.45105e-14 0.175082 1.59933e-14 16 44 PCDHGB4 8641 broad.mit.edu 37 5 140769617 140769617 + Missense_Mutation SNP G G C TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr5:140769617G>C uc003lkc.1 + 1 2166 c.2166G>C c.(2164-2166)TGG>TGC p.W722C PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.W722C NM_003736 NP_003727 Q9UN71 PCDGG_HUMAN protocadherin gamma subfamily B, 4 isoform 1 722 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGCCTCCTGGAGCTGCTTCC 0.572 NaN 0 0 0 0.139131 0 42 293 MDC1 9656 broad.mit.edu 37 6 30673687 30673687 + Silent SNP C C T TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr6:30673687C>T uc003nrg.3 - 10 3713 c.3273G>A c.(3271-3273)GAG>GAA p.E1091E MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Silent_p.E698E NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1091 Pro-rich. Missing (in Ref. 2; CAH18685). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 ACAAGGGAGCCTCTGGAGCTT 0.527 NaN Other_conserved_DNA_damage_response_genes 0 0 0 0.139131 0 57 378 BAT1 7919 broad.mit.edu 37 6 31498940 31498940 + Nonsense_Mutation SNP G G A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr6:31498940G>A uc003ntt.2 - 9 1643 c.1012C>T c.(1012-1014)CGA>TGA p.R338* BAT1_uc003ntq.2_Nonsense_Mutation_p.R71*|BAT1_uc003ntr.2_Nonsense_Mutation_p.R145*|BAT1_uc003nts.2_Nonsense_Mutation_p.R338*|BAT1_uc011dnn.1_Nonsense_Mutation_p.R260*|BAT1_uc003ntu.2_Nonsense_Mutation_p.R338*|BAT1_uc003ntv.2_Nonsense_Mutation_p.R338* NM_004640 NP_004631 Q13838 DX39B_HUMAN HLA-B associated transcript 1 338 Helicase C-terminal. intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly nuclear speck|spliceosomal complex|transcription export complex ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding 0 AGAATTCGTCGTTGAAAATCT 0.418 NaN 0 0 0 0.175082 0 14 73 GLO1 2739 broad.mit.edu 37 6 38649846 38649846 + Nonsense_Mutation SNP G G T TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr6:38649846G>T uc003ooc.2 - 5 530 c.408C>A c.(406-408)TAC>TAA p.Y136* NM_006708 NP_006699 Q04760 LGUL_HUMAN glyoxalase I 136 anti-apoptosis|carbohydrate metabolic process cytoplasm lactoylglutathione lyase activity|metal ion binding ovary(1) 1 Glutathione(DB00143) TACAAGCACTGTATACATCAG 0.403 NaN 1 0 1.50039e-11 0.062417 1.62992e-11 19 122 ROS1 6098 broad.mit.edu 37 6 117710590 117710590 + Missense_Mutation SNP G G A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr6:117710590G>A uc003pxp.1 - 12 1881 c.1682C>T c.(1681-1683)CCG>CTG p.P561L ROS1_uc011ebi.1_Intron|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 561 Fibronectin type-III 3.|Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) AAGCTCCTGCGGGCGGCCTGG 0.557 NaN T GOPC|ROS1 glioblastoma|NSCLC 0 0 0 0.160694 0 18 145 THEMIS 387357 broad.mit.edu 37 6 128150707 128150707 + Missense_Mutation SNP T T G TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr6:128150707T>G uc003qbi.2 - 4 942 c.623A>C c.(622-624)AAG>ACG p.K208T THEMIS_uc010kfa.2_Missense_Mutation_p.K111T|THEMIS_uc011ebt.1_Missense_Mutation_p.K208T|THEMIS_uc010kfb.2_Missense_Mutation_p.K173T NM_001010923 NP_001010923 Q8N1K5 THMS1_HUMAN thymocyte selection pathway associated isoform 208 CABIT 1. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus ovary(2)|skin(2) 4 TGAGTCCCACTTATTTGAAAA 0.363 NaN 0 0 0 0.116897 0 28 107 FUCA2 2519 broad.mit.edu 37 6 143825240 143825240 + Missense_Mutation SNP G G A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr6:143825240G>A uc003qjm.2 - 3 654 c.562C>T c.(562-564)CAT>TAT p.H188Y FUCA2_uc003qjn.2_5'Flank NM_032020 NP_114409 Q9BTY2 FUCO2_HUMAN fucosidase, alpha-L- 2, plasma precursor 188 fucose metabolic process extracellular region alpha-L-fucosidase activity|cation binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142) AAGAGCGGATGAAACCATTCA 0.443 NaN 0 0 0 0.062417 0 22 87 PLEKHG1 57480 broad.mit.edu 37 6 151116991 151116991 + Splice_Site SNP G G C TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr6:151116991G>C uc003qny.1 + 6 895 c.583_splice c.e6-1 p.S195_splice PLEKHG1_uc011eel.1_Splice_Site_p.S235_splice|PLEKHG1_uc011eem.1_Splice_Site_p.S254_splice|PLEKHG1_uc003qnz.2_Splice_Site_p.S195_splice NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) TTTCCTTGCAGAGTGAAGAGT 0.343 NaN 0 0 0 0.11911 0 14 133 PLEKHG1 57480 broad.mit.edu 37 6 151116998 151116998 + Missense_Mutation SNP G G A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr6:151116998G>A uc003qny.1 + 6 901 c.589G>A c.(589-591)GAG>AAG p.E197K PLEKHG1_uc011eel.1_Missense_Mutation_p.E237K|PLEKHG1_uc011eem.1_Missense_Mutation_p.E256K|PLEKHG1_uc003qnz.2_Missense_Mutation_p.E197K NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G 197 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) GCAGAGTGAAGAGTTCCACAT 0.358 NaN 0 0 0 0.132662 0 15 138 SYNE1 23345 broad.mit.edu 37 6 152651857 152651857 + Missense_Mutation SNP T T C TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr6:152651857T>C uc010kiw.2 - 78 14565 c.13963A>G c.(13963-13965)ATT>GTT p.I4655V SYNE1_uc003qot.3_Missense_Mutation_p.I4584V|SYNE1_uc003qou.3_Missense_Mutation_p.I4655V|SYNE1_uc010kiz.2_Missense_Mutation_p.I410V NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4655 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AAGGCAACAATTACATTAAAT 0.428 NaN HNSCC(10;0.0054) 0 0 0 0.160694 0 17 117 SUN1 23353 broad.mit.edu 37 7 897568 897568 + Missense_Mutation SNP G G A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr7:897568G>A uc011jvp.1 + 14 1577 c.1498G>A c.(1498-1500)GAG>AAG p.E500K GET4_uc003sjj.1_RNA|SUN1_uc003sjf.2_Missense_Mutation_p.E417K|SUN1_uc011jvq.1_Missense_Mutation_p.E397K|SUN1_uc003sjg.2_Missense_Mutation_p.E405K|SUN1_uc011jvr.1_Missense_Mutation_p.E298K|SUN1_uc003sji.2_Missense_Mutation_p.E338K|SUN1_uc003sjk.2_Missense_Mutation_p.E139K NM_001130965 NP_001124437 O94901 SUN1_HUMAN unc-84 homolog A isoform a 527 Perinuclear space. cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding 0 GACCGGCTGTGAGACAGTGGA 0.468 NaN 0 0 0 0.139131 0 91 218 ACHE 43 broad.mit.edu 37 7 100489998 100489998 + Missense_Mutation SNP C C T TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr7:100489998C>T uc003uxd.2 - 2 1666 c.1510G>A c.(1510-1512)GCC>ACC p.A504T UFSP1_uc003uxc.3_5'Flank|ACHE_uc003uxe.2_Missense_Mutation_p.A504T|ACHE_uc003uxf.2_Missense_Mutation_p.A504T|ACHE_uc003uxg.2_Missense_Mutation_p.A504T|ACHE_uc003uxh.2_Missense_Mutation_p.A416T|ACHE_uc003uxi.2_Missense_Mutation_p.A504T NM_000665 NP_000656 P22303 ACES_HUMAN acetylcholinesterase isoform E4-E6 precursor 504 acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity skin(2) 2 Lung NSC(181;0.041)|all_lung(186;0.0581) Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199) AGTCGCTGGGCGAAGATTTTC 0.627 NaN 0 0 0 0.132662 0 13 80 TAS2R16 50833 broad.mit.edu 37 7 122635518 122635518 + Silent SNP G G A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr7:122635518G>A uc003vkl.1 - 1 237 c.171C>T c.(169-171)TTC>TTT p.F57F NM_016945 NP_058641 Q9NYV7 T2R16_HUMAN taste receptor T2R16 57 Helical; Name=2; (Potential). detection of chemical stimulus involved in sensory perception of bitter taste endoplasmic reticulum|external side of plasma membrane|trans-Golgi network bitter taste receptor activity|protein binding ovary(1)|skin(1) 2 ACTGTAGACAGAAGCGAGAGA 0.428 NaN 0 0 0 0.083992 0 25 73 CUL1 8454 broad.mit.edu 37 7 148484186 148484186 + Missense_Mutation SNP G G A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr7:148484186G>A uc010lpg.2 + 13 1979 c.1453G>A c.(1453-1455)GAA>AAA p.E485K CUL1_uc003wey.2_Missense_Mutation_p.E485K|CUL1_uc003wez.2_Missense_Mutation_p.E375K|CUL1_uc003wfa.2_Missense_Mutation_p.E146K NM_003592 NP_003583 Q13616 CUL1_HUMAN cullin 1 485 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding lung(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) TGACGATGCCGAAGCCAGCAT 0.398 NaN 0 0 0 0.134883 0 30 72 MTMR9 66036 broad.mit.edu 37 8 11172556 11172556 + Nonsense_Mutation SNP G G T TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr8:11172556G>T uc003wtm.2 + 7 1494 c.1096G>T c.(1096-1098)GAA>TAA p.E366* MTMR9_uc010lrx.2_Nonsense_Mutation_p.E259*|MTMR9_uc011kxa.1_Nonsense_Mutation_p.E281* NM_015458 NP_056273 Q96QG7 MTMR9_HUMAN myotubularin related protein 9 366 Myotubularin phosphatase. cytoplasm phosphatase activity|protein binding 0 STAD - Stomach adenocarcinoma(15;0.215) COAD - Colon adenocarcinoma(149;0.0678) GGCCCTGATTGAAAGAGAGTG 0.488 NaN 1 0 6.38683e-12 0.134883 6.98849e-12 25 125 INTS9 55756 broad.mit.edu 37 8 28651378 28651378 + Missense_Mutation SNP A A G TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr8:28651378A>G uc003xha.2 - 10 1282 c.983T>C c.(982-984)TTC>TCC p.F328S INTS9_uc011lav.1_Missense_Mutation_p.F304S|INTS9_uc011law.1_Missense_Mutation_p.F307S|INTS9_uc011lax.1_Missense_Mutation_p.F221S|INTS9_uc010lvc.2_RNA|INTS9_uc003xhb.2_Missense_Mutation_p.F328S NM_018250 NP_060720 Q9NV88 INT9_HUMAN integrator complex subunit 9 isoform 1 328 snRNA processing integrator complex protein binding central_nervous_system(1)|pancreas(1) 2 Ovarian(32;0.0439) KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152) AGGGGAGATGAAGTAGAGGGG 0.468 NaN 0 0 0 0.02938 0 7 110 GSR 2936 broad.mit.edu 37 8 30537169 30537169 + Missense_Mutation SNP C C T TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr8:30537169C>T uc003xih.1 - 13 1528 c.1437G>A c.(1435-1437)ATG>ATA p.M479I NM_000637 NP_000628 P00390 GSHR_HUMAN glutathione reductase precursor 479 cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion cytosol|mitochondrion electron carrier activity|glutathione-disulfide reductase activity ovary(2)|pancreas(2)|central_nervous_system(1) 5 KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125) Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157) CAAGTCCCTGCATATGGATCC 0.343 NaN 0 0 0 0.038147 0 8 89 ANK1 286 broad.mit.edu 37 8 41581117 41581117 + Missense_Mutation SNP C C T TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr8:41581117C>T uc003xok.2 - 8 830 c.746G>A c.(745-747)AGG>AAG p.R249K NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.R249K|ANK1_uc003xoj.2_Missense_Mutation_p.R249K|ANK1_uc003xol.2_Missense_Mutation_p.R249K|ANK1_uc003xom.2_Missense_Mutation_p.R282K NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 249 ANK 7.|89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CACGTTGCCCCTGCGGGAGGC 0.637 NaN 0 0 0 0.150653 0 4 107 DNM1 1759 broad.mit.edu 37 9 130986561 130986561 + Missense_Mutation SNP G G C TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr9:130986561G>C uc011mau.1 + 10 1315 c.1228G>C c.(1228-1230)GAG>CAG p.E410Q DNM1_uc010mxr.2_Intron|DNM1_uc011mat.1_Missense_Mutation_p.E410Q NM_004408 NP_004399 Q05193 DYN1_HUMAN dynamin 1 isoform 1 410 receptor-mediated endocytosis microtubule GTP binding|GTPase activity ovary(2) 2 CATGGCCTTTGAGACCATTGT 0.408 NaN 0 0 0 0.09319 0 9 115 COL5A1 1289 broad.mit.edu 37 9 137664657 137664657 + Missense_Mutation SNP C C T TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr9:137664657C>T uc004cfe.2 + 26 2690 c.2308C>T c.(2308-2310)CCT>TCT p.P770S NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 770 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CAAAGAAGGCCCTCCAGGAGA 0.607 NaN 0 0 0 0.11911 0 11 131 DDX53 168400 broad.mit.edu 37 X 23019072 23019072 + Missense_Mutation SNP C C A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chrX:23019072C>A uc004daj.2 + 1 986 c.898C>A c.(898-900)CTA>ATA p.L300I NM_182699 NP_874358 Q86TM3 DDX53_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 300 Helicase ATP-binding. nucleus ATP binding|ATP-dependent helicase activity|RNA binding large_intestine(1)|ovary(1)|kidney(1) 3 GCCTGGGATGCTAGTCCTTAC 0.418 NaN 1 0 3.59834e-05 0.021553 3.74723e-05 4 64 DDX53 168400 broad.mit.edu 37 X 23019219 23019219 + Missense_Mutation SNP A A T TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chrX:23019219A>T uc004daj.2 + 1 1133 c.1045A>T c.(1045-1047)ATT>TTT p.I349F NM_182699 NP_874358 Q86TM3 DDX53_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 349 Helicase ATP-binding. nucleus ATP binding|ATP-dependent helicase activity|RNA binding large_intestine(1)|ovary(1)|kidney(1) 3 TGTAGATATCATTATTGCAAC 0.353 NaN 0 0 0 0.021553 0 4 84 MED12 9968 broad.mit.edu 37 X 70339981 70339981 + Missense_Mutation SNP G G C TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chrX:70339981G>C uc004dyy.2 + 4 713 c.514G>C c.(514-516)GAG>CAG p.E172Q MED12_uc011mpq.1_Missense_Mutation_p.E172Q|MED12_uc004dyz.2_Missense_Mutation_p.E172Q|MED12_uc004dza.2_Missense_Mutation_p.E19Q NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 172 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) AGCAATCTCTGAGACCAAGGT 0.488 NaN 0 0 0 0.125774 0 27 53 PHF6 84295 broad.mit.edu 37 X 133512098 133512098 + Nonsense_Mutation SNP G G T TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chrX:133512098G>T uc004exj.2 + 3 404 c.202G>T c.(202-204)GAA>TAA p.E68* PHF6_uc004exk.2_Nonsense_Mutation_p.E68*|PHF6_uc011mvk.1_Intron|PHF6_uc004exh.2_Nonsense_Mutation_p.E68*|PHF6_uc010nrr.2_Nonsense_Mutation_p.E68*|PHF6_uc004exi.2_Nonsense_Mutation_p.E68* NM_001015877 NP_001015877 Q8IWS0 PHF6_HUMAN PHD finger protein 6 isoform 1 68 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(192;0.000127) ATTTTCTATTGAAGATGTCCA 0.299 NaN 1 0 7.41877e-09 0.062417 7.94565e-09 17 48 MAGEA1 4100 broad.mit.edu 37 X 152482885 152482885 + Silent SNP G G A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chrX:152482885G>A uc004fhf.2 - 3 346 c.126C>T c.(124-126)ACC>ACT p.T42T NM_004988 NP_004979 P43355 MAGA1_HUMAN melanoma antigen family A, 1 42 cytoplasm|plasma membrane central_nervous_system(7)|ovary(1)|lung(1)|breast(1) 10 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCTCCTCCAGGGTGCCCAGGA 0.627 NaN 0 0 0 0.074837 0 39 109 NOTCH2 4853 broad.mit.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr1:120612003_120612004delGG uc001eik.2 - 1 273_274 c.17_18delCC c.(16-18)CCCfs p.P6fs NOTCH2_uc001eil.2_Frame_Shift_Del_p.P6fs|NOTCH2_uc001eim.3_5'UTR NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 6 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAGCAGAGCGGGGCGCAGGGC 0.663 NaN N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome NaN NaN NaN NaN NaN 6 12 --- --- TRIM67 440730 broad.mit.edu 37 1 231349602 231349603 + Frame_Shift_Ins INS - - CCAC TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr1:231349602_231349603insCCAC uc009xfn.1 + 9 2207_2208 c.2165_2166insCCAC c.(2164-2166)CTGfs p.L722fs NM_001004342 NP_001004342 Q6ZTA4 TRI67_HUMAN tripartite motif-containing 67 722 B30.2/SPRY. cytoplasm|cytoskeleton zinc ion binding ovary(2)|breast(1)|kidney(1) 4 Breast(184;0.0871) all_cancers(173;0.189)|Prostate(94;0.167) GTGGGCGTGCTGCTGGACCTGA 0.614 NaN NaN NaN NaN NaN NaN 9 200 --- --- KIAA0100 9703 broad.mit.edu 37 17 26971195 26971201 + Frame_Shift_Del DEL CCACAAG CCACAAG - TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr17:26971195_26971201delCCACAAG uc002hbu.2 - 2 172_178 c.73_79delCTTGTGG c.(73-81)CTTGTGGTCfs p.L25fs KIAA0100_uc002hbv.2_Frame_Shift_Del_p.L25fs|KIAA0100_uc010crr.1_5'UTR NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 25_27 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) GCCAACCGGACCACAAGCCACCTGCAG 0.483 NaN OREG0024280 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NaN NaN NaN NaN NaN 7 116 --- --- FEZ2 9637 broad.mit.edu 37 2 36805997 36805998 + Frame_Shift_Del DEL GC GC - TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr2:36805997_36805998delGC uc002rph.2 - 5 692_693 c.645_646delGC c.(643-648)AGGCTCfs p.R215fs FEZ2_uc002rpe.2_Frame_Shift_Del_p.R44fs|FEZ2_uc002rpf.2_Frame_Shift_Del_p.R44fs|FEZ2_uc002rpg.2_Frame_Shift_Del_p.R215fs|FEZ2_uc002rpi.2_Frame_Shift_Del_p.R70fs|FEZ2_uc002rpj.2_Frame_Shift_Del_p.R215fs NM_005102 NP_005093 Q9UHY8 FEZ2_HUMAN zygin 2 isoform 1 215_216 Potential. axon guidance|signal transduction protein binding ovary(1) 1 all_hematologic(82;0.21) GACACTGAGAGCCTTTTCACTC 0.396 NaN NaN NaN NaN NaN NaN 14 80 --- --- HLA-A 3105 broad.mit.edu 37 6 29910346 29910346 + Frame_Shift_Del DEL C C - TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr6:29910346delC uc003nol.2 + 1 16 c.16delC c.(16-18)CCCfs p.P6fs HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Frame_Shift_Del_p.P6fs|HLA-A_uc003noo.2_Frame_Shift_Del_p.P6fs|HLA-A_uc010jrr.2_Frame_Shift_Del_p.P6fs|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_5'Flank|HLA-A_uc011dmc.1_5'Flank|HLA-A_uc011dmd.1_5'Flank NM_002116 NP_002107 P30443 1A01_HUMAN major histocompatibility complex, class I, A 6 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 CGTCATGGCGCCCCGAACCCT 0.677 NaN Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of Multiple Myeloma(9;0.094) NaN NaN NaN NaN NaN 12 115 --- --- GIGYF1 64599 broad.mit.edu 37 7 100280314 100280315 + Frame_Shift_Ins INS - - C TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e80278f9-2059-4e98-92b2-3e9868fc5818 1a1db5dc-c338-4de0-aea2-20e78cb094b3 g.chr7:100280314_100280315insC uc003uwg.1 - 20 3507_3508 c.2498_2499insG c.(2497-2499)GGCfs p.G833fs NM_022574 NP_072096 O75420 PERQ1_HUMAN PERQ amino acid rich, with GYF domain 1 833 large_intestine(1)|central_nervous_system(1) 2 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) CGCTGCTGCCGCCCCCACTCTT 0.693 NaN NaN NaN NaN NaN NaN 7 45 --- ---