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 VWA1 64856 broad.mit.edu 37 1 1372365 1372365 + Silent SNP C C T TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr1:1372365C>T uc001afs.2 + 2 352 c.132C>T c.(130-132)AGC>AGT p.S44S VWA1_uc001afr.2_Intron NM_022834 NP_073745 Q6PCB0 VWA1_HUMAN von Willebrand factor A domain containing 1 44 VWFA. basement membrane 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;8.75e-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)|Lung SC(97;0.128) 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) GCTCAGCCAGCGTCTCTCACT 0.672 NaN 0 0 0 0.279185 0 43 42 VPS13D 55187 broad.mit.edu 37 1 12336628 12336628 + Nonsense_Mutation SNP G G T TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr1:12336628G>T uc001atv.2 + 19 3124 c.2983G>T c.(2983-2985)GAA>TAA p.E995* VPS13D_uc001atw.2_Nonsense_Mutation_p.E995*|VPS13D_uc001atx.2_Nonsense_Mutation_p.E183* NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 995 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TTATGATGCTGAAGTCTCCCT 0.453 NaN OREG0013110 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 2.20344e-50 0.139131 2.47488e-50 107 69 PRAMEF2 65122 broad.mit.edu 37 1 12918913 12918913 + Silent SNP C C T TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr1:12918913C>T uc001aum.1 + 2 136 c.49C>T c.(49-51)CTG>TTG p.L17L NM_023014 NP_075390 O60811 PRAM2_HUMAN PRAME family member 2 17 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GGGGCAGAGCCTGCTGAGAGA 0.562 NaN 0 0 0 0.139131 0 106 77 ZMYM4 9202 broad.mit.edu 37 1 35853067 35853067 + Nonsense_Mutation SNP C C T TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr1:35853067C>T uc001byt.2 + 13 2205 c.2125C>T c.(2125-2127)CAG>TAG p.Q709* ZMYM4_uc009vuu.2_Nonsense_Mutation_p.Q677*|ZMYM4_uc001byu.2_Nonsense_Mutation_p.Q385*|ZMYM4_uc009vuv.2_Nonsense_Mutation_p.Q448* NM_005095 NP_005086 Q5VZL5 ZMYM4_HUMAN zinc finger protein 262 709 MYM-type 7. multicellular organismal development DNA binding|zinc ion binding large_intestine(2)|ovary(1)|kidney(1)|skin(1) 5 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CAAAATGTTTCAGTTCTGTGG 0.294 NaN 0 0 0 0.183431 0 34 70 PGM1 5236 broad.mit.edu 37 1 64114205 64114205 + Missense_Mutation SNP G G A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr1:64114205G>A uc001dbh.2 + 8 1375 c.1162G>A c.(1162-1164)GAG>AAG p.E388K PGM1_uc010ooy.1_Missense_Mutation_p.E191K|PGM1_uc010ooz.1_Missense_Mutation_p.E406K NM_002633 NP_002624 P36871 PGM1_HUMAN phosphoglucomutase 1 388 cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity ovary(2)|kidney(1) 3 CCACATCCGTGAGAAAGATGG 0.478 NaN 0 0 0 0.069234 0 10 24 IL23R 149233 broad.mit.edu 37 1 67672625 67672625 + Missense_Mutation SNP G G A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr1:67672625G>A uc001ddo.2 + 6 770 c.685G>A c.(685-687)GAG>AAG p.E229K IL23R_uc009waz.2_Missense_Mutation_p.E26K|IL23R_uc001ddp.2_RNA|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_5'UTR|IL23R_uc010opk.1_Missense_Mutation_p.E186K|IL23R_uc010opl.1_Intron|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_5'UTR|IL23R_uc010opn.1_Missense_Mutation_p.E74K|IL23R_uc001ddr.2_RNA|IL23R_uc010opo.1_Missense_Mutation_p.E88K|IL23R_uc010opp.1_Intron|IL23R_uc010opq.1_Missense_Mutation_p.E88K|IL23R_uc010opr.1_RNA|IL23R_uc010ops.1_Missense_Mutation_p.E26K|IL23R_uc010opt.1_5'UTR|IL23R_uc010opu.1_Intron|IL23R_uc010opv.1_Intron|IL23R_uc010opw.1_5'UTR|IL23R_uc010opx.1_Intron|IL23R_uc010opy.1_Missense_Mutation_p.E26K|IL23R_uc010opz.1_Intron|IL23R_uc010oqa.1_Intron|IL23R_uc010oqb.1_Missense_Mutation_p.E88K|IL23R_uc010oqc.1_5'UTR|IL23R_uc010oqd.1_Intron|IL23R_uc010oqe.1_5'UTR|IL23R_uc010oqf.1_5'UTR|IL23R_uc010oqg.1_5'UTR|IL23R_uc010oqh.1_Intron|IL23R_uc001dds.2_5'Flank|IL23R_uc001ddt.2_5'Flank NM_144701 NP_653302 Q5VWK5 IL23R_HUMAN interleukin 23 receptor precursor 229 Extracellular (Potential).|Fibronectin type-III 2. inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide interleukin-23 receptor complex receptor activity 0 TTCCAGGGCTGAGACTATAAA 0.373 NaN 0 0 0 0.160694 0 18 8 FPGT 8790 broad.mit.edu 37 1 74670283 74670283 + Missense_Mutation SNP C C A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr1:74670283C>A uc001dgb.1 + 4 589 c.552C>A c.(550-552)GAC>GAA p.D184E TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Intron|FPGT_uc010oqu.1_Intron|FPGT_uc010oqv.1_Intron NM_003838 NP_003829 O14772 FPGT_HUMAN fucose-1-phosphate guanyltransferase 184 fucose metabolic process cytoplasm fucose-1-phosphate guanylyltransferase activity|GTP binding skin(1) 1 TTAGGTTTGACAAACCTGGCT 0.348 NaN 1 0 1.06961e-07 0.27861 1.11268e-07 8 59 RPAP2 79871 broad.mit.edu 37 1 92789860 92789860 + Silent SNP G G C TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr1:92789860G>C uc001dot.2 + 8 1492 c.1383G>C c.(1381-1383)CTG>CTC p.L461L RPAP2_uc009wdh.2_RNA NM_024813 NP_079089 Q8IXW5 RPAP2_HUMAN RNA polymerase II associated protein 2 461 integral to membrane|nucleus metal ion binding|phosphoprotein phosphatase activity ovary(1) 1 all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222) all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115) AGTTAAATCTGAGGATCAGGG 0.403 NaN 0 0 0 0.189662 0 20 58 CRTC2 200186 broad.mit.edu 37 1 153930832 153930832 + Missense_Mutation SNP C C A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr1:153930832C>A uc010ped.1 - 1 212 c.142G>T c.(142-144)GGC>TGC p.G48C NM_181715 NP_859066 Q53ET0 CRTC2_HUMAN CREB regulated transcription coactivator 2 48 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding ovary(2) 2 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CGGGTGGAGCCGATGTCCATC 0.572 NaN 1 0 4.7546e-09 0.146539 5.0477e-09 14 20 NUF2 83540 broad.mit.edu 37 1 163317648 163317648 + Silent SNP G G A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr1:163317648G>A uc001gcq.1 + 12 1344 c.1044G>A c.(1042-1044)AAG>AAA p.K348K NUF2_uc001gcr.1_Silent_p.K348K|NUF2_uc009wvc.1_Silent_p.K301K NM_145697 NP_663735 Q9BZD4 NUF2_HUMAN NUF2, NDC80 kinetochore complex component 348 Interaction with the N-terminus of NDC80. cell division|chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding ovary(3)|skin(1) 4 all_hematologic(923;0.101) TGATTGTGAAGAAGGAAAAAC 0.353 NaN 0 0 0 0.058154 0 9 45 POU2F1 5451 broad.mit.edu 37 1 167365587 167365587 + Missense_Mutation SNP G G A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr1:167365587G>A uc001gec.2 + 11 1145 c.983G>A c.(982-984)CGA>CAA p.R328Q POU2F1_uc010plg.1_RNA|POU2F1_uc001ged.2_Missense_Mutation_p.R326Q|POU2F1_uc001gee.2_Missense_Mutation_p.R328Q|POU2F1_uc010plh.1_Missense_Mutation_p.R265Q|POU2F1_uc001gef.2_Missense_Mutation_p.R340Q|POU2F1_uc001geg.2_Missense_Mutation_p.R226Q|POU2F1_uc009wvg.1_5'Flank NM_002697 NP_002688 P14859 PO2F1_HUMAN POU class 2 homeobox 1 328 POU-specific. negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|skin(2)|breast(1) 5 ACCATCTCTCGATTTGAAGCC 0.428 NaN 0 0 0 0.139131 0 124 13 CAMSAP1L1 23271 broad.mit.edu 37 1 200819069 200819069 + Missense_Mutation SNP G G A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr1:200819069G>A uc001gvl.2 + 12 3475 c.3205G>A c.(3205-3207)GAA>AAA p.E1069K CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.E1058K|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.E1042K NM_203459 NP_982284 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein 1069 cytoplasm|microtubule protein binding ovary(2)|large_intestine(1)|pancreas(1) 4 ACATAATCCAGAAGAAAAGGA 0.413 NaN 0 0 0 0.279207 0 25 67 ACTA1 58 broad.mit.edu 37 1 229567907 229567907 + Missense_Mutation SNP G G C TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr1:229567907G>C uc001htm.2 - 5 747 c.642C>G c.(640-642)ATC>ATG p.I214M NM_001100 NP_001091 P68133 ACTS_HUMAN actin, alpha 1, skeletal muscle 214 muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly actin filament|cytosol|stress fiber|striated muscle thin filament ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton 0 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) Dornase Alfa(DB00003) GCTTCTCCTTGATGTCGCGCA 0.517 NaN 0 0 0 0.160694 0 16 12 ARID4B 51742 broad.mit.edu 37 1 235403707 235403707 + Missense_Mutation SNP A A G TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr1:235403707A>G uc001hwq.2 - 8 1004 c.506T>C c.(505-507)ATT>ACT p.I169T ARID4B_uc001hwr.2_Missense_Mutation_p.I169T|ARID4B_uc001hws.3_Missense_Mutation_p.I169T|ARID4B_uc001hwu.1_Missense_Mutation_p.I169T|ARID4B_uc001hwt.3_5'UTR NM_016374 NP_057458 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B isoform 1 169 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding ovary(2)|lung(1) 3 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) TAGCTCATCAATCTGTTTCCT 0.373 NaN 0 0 0 0.225048 0 38 4 OR2T11 127077 broad.mit.edu 37 1 248789671 248789671 + Missense_Mutation SNP G G C TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr1:248789671G>C uc001ier.1 - 1 759 c.759C>G c.(757-759)TTC>TTG p.F253L NM_001001964 NP_001001964 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, 253 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity lung(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CGTATGTGTAGAAGGCAGCCC 0.522 NaN 0 0 0 0.09319 0 13 51 SH3BP5L 80851 broad.mit.edu 37 1 249119080 249119080 + Missense_Mutation SNP G G A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr1:249119080G>A uc001iew.1 - 2 607 c.55C>T c.(55-57)CGG>TGG p.R19W SH3BP5L_uc001iev.1_5'UTR|hsa-mir-3124|MI0014140_5'Flank NM_030645 NP_085148 Q7L8J4 3BP5L_HUMAN SH3-binding domain protein 5-like 19 0 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) ACTTCAGGCCGCAGCTCCCCC 0.607 NaN 0 0 0 0.139131 0 91 39 GALNTL4 374378 broad.mit.edu 37 11 11362441 11362441 + Silent SNP G G A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr11:11362441G>A uc001mjo.2 - 7 1624 c.1203C>T c.(1201-1203)AAC>AAT p.N401N NM_198516 NP_940918 Q6P9A2 GLTL4_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 401 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding 0 all cancers(16;3.67e-05)|Epithelial(150;0.000184) CCCTGAGAGCGTTCCTGCGGA 0.582 NaN 0 0 0 0.139131 0 103 105 PIK3C2A 5286 broad.mit.edu 37 11 17113773 17113773 + Missense_Mutation SNP G G C TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr11:17113773G>C uc001mmq.3 - 28 4568 c.4502C>G c.(4501-4503)GCC>GGC p.A1501G PIK3C2A_uc009ygu.1_Missense_Mutation_p.A104G|PIK3C2A_uc010rcw.1_Missense_Mutation_p.A1121G|PIK3C2A_uc001mmr.3_Intron NM_002645 NP_002636 O00443 P3C2A_HUMAN phosphoinositide-3-kinase, class 2 alpha 1501 PX. cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(4)|central_nervous_system(4)|stomach(1)|ovary(1) 10 Phosphatidylserine(DB00144) TTTCCTTTTGGCTGCTACATC 0.323 NaN 0 0 0 0.134883 0 32 39 KCNJ11 3767 broad.mit.edu 37 11 17408909 17408909 + Missense_Mutation SNP C C T TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr11:17408909C>T uc001mna.2 - 1 1298 c.730G>A c.(730-732)GTG>ATG p.V244M KCNJ11_uc001mnb.3_Missense_Mutation_p.V157M NM_000525 NP_000516 B4DWI4 B4DWI4_HUMAN potassium inwardly-rectifying channel J11 244 integral to membrane ATP-activated inward rectifier potassium channel activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633) TTGCCACCCACGCCGTTCTCC 0.627 NaN OREG0020810 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.225048 0 39 46 ACCS 84680 broad.mit.edu 37 11 44089204 44089204 + Silent SNP C C T TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr11:44089204C>T uc009yks.1 + 2 171 c.27C>T c.(25-27)TTC>TTT p.F9F ACCS_uc010rfm.1_5'UTR|ACCS_uc010rfn.1_Silent_p.F9F|ACCS_uc001mxx.2_Silent_p.F9F NM_001127219 NP_001120691 Q96QU6 1A1L1_HUMAN 1-aminocyclopropane-1-carboxylate synthase 9 1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups breast(2)|ovary(1)|lung(1) 4 AAAAGGACTTCAGGGCTCCCA 0.537 NaN 0 0 0 0.225048 0 37 34 FOLH1 2346 broad.mit.edu 37 11 49227726 49227726 + Splice_Site SNP T T G TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr11:49227726T>G uc001ngy.2 - 2 380 c.119_splice c.e2-1 p.G40_splice FOLH1_uc001ngz.2_Splice_Site_p.G40_splice|FOLH1_uc009yly.2_Splice_Site_p.G25_splice|FOLH1_uc009ylz.2_Splice_Site_p.G25_splice|FOLH1_uc009yma.2_Splice_Site|FOLH1_uc001nha.2_Splice_Site_p.G25_splice NM_004476 NP_004467 Q04609 FOLH1_HUMAN folate hydrolase 1 isoform 1 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity large_intestine(1)|ovary(1)|skin(1) 3 Capromab(DB00089)|L-Glutamic Acid(DB00142) TAAACCACCCTGAAAAATACA 0.299 NaN 0 0 0 0.069234 0 10 77 VWCE 220001 broad.mit.edu 37 11 61036487 61036487 + Missense_Mutation SNP C C G TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr11:61036487C>G uc001nra.2 - 15 2068 c.1789G>C c.(1789-1791)GAT>CAT p.D597H VWCE_uc001nrb.2_RNA NM_152718 NP_689931 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 597 VWFC 4. extracellular region calcium ion binding ovary(1) 1 ACCGAGCCATCTGCCTGGAGG 0.612 NaN 0 0 0 0.09319 0 12 12 GRIA4 2893 broad.mit.edu 37 11 105797472 105797472 + Missense_Mutation SNP T T C TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr11:105797472T>C uc001pix.2 + 13 2299 c.1853T>C c.(1852-1854)CTC>CCC p.L618P GRIA4_uc001piw.2_Missense_Mutation_p.L618P NM_000829 NP_000820 P48058 GRIA4_HUMAN glutamate receptor, ionotrophic, AMPA 4 isoform 618 Cytoplasmic (Potential). glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) tttagaTCCCTCTCAGGTCGA 0.259 NaN 0 0 0 0.294199 0 21 75 TECTA 7007 broad.mit.edu 37 11 120998486 120998486 + Silent SNP C C T TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr11:120998486C>T uc010rzo.1 + 8 1800 c.1800C>T c.(1798-1800)TTC>TTT p.F600F NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 600 TIL 1. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GCCCGAGCTTCAGCCACTACT 0.622 NaN 0 0 0 0.301197 0 41 43 NEUROD4 58158 broad.mit.edu 37 12 55420322 55420322 + Missense_Mutation SNP G G C TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr12:55420322G>C uc001sgp.3 + 2 477 c.99G>C c.(97-99)GAG>GAC p.E33D NM_021191 NP_067014 Q9HD90 NDF4_HUMAN neurogenic differentiation 4 33 amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(3)|skin(1) 4 AGGTGAAGGAGGAAGAGAGCA 0.393 NaN 0 0 0 0.163468 0 32 11 MTERFD3 80298 broad.mit.edu 37 12 107372070 107372070 + Silent SNP A A G TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr12:107372070A>G uc001tme.1 - 2 2242 c.423T>C c.(421-423)TTT>TTC p.F141F MTERFD3_uc001tmf.1_Silent_p.F141F|MTERFD3_uc001tmg.1_Silent_p.F141F|MTERFD3_uc001tmh.1_Silent_p.F141F NM_025198 NP_079474 Q49AM1 MTER3_HUMAN transcription termination factor-like protein 141 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial nucleoid transcription regulatory region DNA binding 0 CTTTAATAGTAAAGAAAGATT 0.398 NaN 0 0 0 0.11911 0 15 77 DCLK1 9201 broad.mit.edu 37 13 36396889 36396889 + Missense_Mutation SNP C C T TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr13:36396889C>T uc001uvf.2 - 11 1764 c.1531G>A c.(1531-1533)GAT>AAT p.D511N DCLK1_uc001uve.3_Missense_Mutation_p.D204N|DCLK1_uc010teh.1_Missense_Mutation_p.D204N|DCLK1_uc010abk.2_Intron NM_004734 NP_004725 O15075 DCLK1_HUMAN doublecortin-like kinase 1 511 Protein kinase. Proton acceptor (By similarity). 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) GGCTTGATATCACGGTGGACG 0.458 NaN 0 0 0 0.214465 0 36 40 ZNF828 283489 broad.mit.edu 37 13 115089918 115089918 + Missense_Mutation SNP C C T TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr13:115089918C>T uc010ahb.2 + 3 930 c.601C>T c.(601-603)CCT>TCT p.P201S ZNF828_uc001vuv.2_Missense_Mutation_p.P201S|ZNF828_uc010tko.1_Missense_Mutation_p.P201S NM_001164144 NP_001157616 Q96JM3 ZN828_HUMAN zinc finger protein 828 201 Pro-rich. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding ovary(2) 2 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_epithelial(44;0.122)|all_lung(25;0.123) BRCA - Breast invasive adenocarcinoma(86;0.104) OV - Ovarian serous cystadenocarcinoma(48;0.193)|Epithelial(10;0.197) GAAACTTGCCCCTGTTCCTTC 0.488 NaN 0 0 0 0.139131 0 94 112 RABGGTA 5875 broad.mit.edu 37 14 24739609 24739609 + Missense_Mutation SNP C C T TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr14:24739609C>T uc001wof.2 - 3 592 c.170G>A c.(169-171)GGA>GAA p.G57E RABGGTA_uc001woe.2_5'Flank|RABGGTA_uc001wog.2_Missense_Mutation_p.G57E|RABGGTA_uc001woh.2_RNA|RABGGTA_uc001woi.2_RNA NM_004581 NP_004572 Q92696 PGTA_HUMAN Rab geranylgeranyltransferase alpha 57 PFTA 1. visual perception Rab geranylgeranyltransferase activity|zinc ion binding 0 GBM - Glioblastoma multiforme(265;0.0184) AGGGTTGGCTCCCAGAATCTG 0.537 NaN 0 0 0 0.160694 0 18 1 RABGGTA 5875 broad.mit.edu 37 14 24739631 24739631 + Missense_Mutation SNP C C T TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr14:24739631C>T uc001wof.2 - 3 570 c.148G>A c.(148-150)GAA>AAA p.E50K RABGGTA_uc001woe.2_5'Flank|RABGGTA_uc001wog.2_Missense_Mutation_p.E50K|RABGGTA_uc001woh.2_RNA|RABGGTA_uc001woi.2_RNA NM_004581 NP_004572 Q92696 PGTA_HUMAN Rab geranylgeranyltransferase alpha 50 PFTA 1. visual perception Rab geranylgeranyltransferase activity|zinc ion binding 0 GBM - Glioblastoma multiforme(265;0.0184) CTTGTCAGTTCCAGCACGGAC 0.522 NaN 0 0 0 0.160694 0 16 1 RABGGTA 5875 broad.mit.edu 37 14 24740142 24740142 + Silent SNP C C T TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr14:24740142C>T uc001wof.2 - 2 437 c.15G>A c.(13-15)CTG>CTA p.L5L RABGGTA_uc001woe.2_5'Flank|RABGGTA_uc001wog.2_Silent_p.L5L|RABGGTA_uc001woh.2_RNA|RABGGTA_uc001woi.2_RNA NM_004581 NP_004572 Q92696 PGTA_HUMAN Rab geranylgeranyltransferase alpha 5 visual perception Rab geranylgeranyltransferase activity|zinc ion binding 0 GBM - Glioblastoma multiforme(265;0.0184) TCTTCACCTTCAGGCGTCCGT 0.557 NaN 0 0 0 0.047766 0 8 2 FAM179B 23116 broad.mit.edu 37 14 45432049 45432049 + Missense_Mutation SNP G G C TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr14:45432049G>C uc001wvv.2 + 1 634 c.425G>C c.(424-426)CGA>CCA p.R142P FAM179B_uc001wvw.2_Missense_Mutation_p.R142P|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.R142P|FAM179B_uc001wvu.2_Missense_Mutation_p.R142P NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN hypothetical protein LOC23116 142 binding skin(2)|upper_aerodigestive_tract(1) 3 GCACTGGGCCGAGTGCTTGTG 0.627 NaN 0 0 0 0.139131 0 54 11 FAM179B 23116 broad.mit.edu 37 14 45432303 45432303 + Missense_Mutation SNP G G C rs148819135 TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr14:45432303G>C uc001wvv.2 + 1 888 c.679G>C c.(679-681)GAT>CAT p.D227H FAM179B_uc001wvw.2_Missense_Mutation_p.D227H|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.D227H|FAM179B_uc001wvu.2_Missense_Mutation_p.D227H NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN hypothetical protein LOC23116 227 binding skin(2)|upper_aerodigestive_tract(1) 3 GGAAAGTACCGATGCCCGACT 0.493 NaN 0 0 0 0.139131 0 57 6 TTC8 123016 broad.mit.edu 37 14 89307466 89307466 + Missense_Mutation SNP A A G TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr14:89307466A>G uc010ath.2 + 4 519 c.385A>G c.(385-387)ATC>GTC p.I129V TTC8_uc010atg.1_RNA|TTC8_uc001xxl.2_5'UTR|TTC8_uc010ati.2_5'UTR|TTC8_uc001xxm.2_Missense_Mutation_p.I129V|TTC8_uc010atj.2_Intron|TTC8_uc001xxi.2_Missense_Mutation_p.I139V|TTC8_uc001xxj.2_Missense_Mutation_p.I129V|TTC8_uc001xxk.2_Missense_Mutation_p.I129V NM_198309 NP_938051 Q8TAM2 TTC8_HUMAN tetratricopeptide repeat domain 8 isoform B 139 cilium assembly|establishment of anatomical structure orientation|sensory processing BBSome|centrosome|cilium membrane|microtubule basal body protein binding 0 GGAACAGGCTATCAGAACACC 0.527 NaN Bardet-Biedl_syndrome 0 0 0 0.219247 0 20 55 MYO9A 4649 broad.mit.edu 37 15 72146901 72146901 + Missense_Mutation SNP C C G TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr15:72146901C>G uc002atl.3 - 35 6636 c.6163G>C c.(6163-6165)GAG>CAG p.E2055Q MYO9A_uc002atj.2_5'UTR|MYO9A_uc002atk.2_Missense_Mutation_p.E850Q NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN myosin IXA 2055 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity ovary(1)|pancreas(1)|skin(1) 3 GATGACAGCTCTGGATCATAC 0.348 NaN 0 0 0 0.139131 0 53 48 TM6SF1 53346 broad.mit.edu 37 15 83776476 83776476 + Missense_Mutation SNP C C G TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr15:83776476C>G uc002bjp.2 + 1 153 c.44C>G c.(43-45)TCG>TGG p.S15W TM6SF1_uc010bmq.2_Missense_Mutation_p.S15W|TM6SF1_uc002bjq.2_Missense_Mutation_p.S15W|TM6SF1_uc010bmr.2_RNA NM_023003 NP_075379 Q9BZW5 TM6S1_HUMAN transmembrane 6 superfamily member 1 isoform 1 15 Helical; (Potential). integral to membrane ovary(1) 1 CTGTCCCTCTCGGCCATCCCG 0.567 NaN 0 0 0 0.217242 0 5 4 FANCI 55215 broad.mit.edu 37 15 89858609 89858609 + Missense_Mutation SNP G G A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr15:89858609G>A uc010bnp.1 + 37 4003 c.3913G>A c.(3913-3915)GAA>AAA p.E1305K FANCI_uc002bnm.1_Missense_Mutation_p.E1245K|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Missense_Mutation_p.E1065K|FANCI_uc002bnq.1_Missense_Mutation_p.E718K NM_001113378 NP_001106849 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I isoform 1305 cell cycle|DNA repair nucleoplasm protein binding ovary(2) 2 Lung NSC(78;0.0472)|all_lung(78;0.089) TGGTGAAGATGAAAATGAAGA 0.498 NaN Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.125774 0 31 39 CHD2 1106 broad.mit.edu 37 15 93540489 93540489 + Missense_Mutation SNP C C G TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr15:93540489C>G uc002bsp.2 + 30 4316 c.3741C>G c.(3739-3741)TGC>TGG p.C1247W CHD2_uc002bso.1_Missense_Mutation_p.C1247W NM_001271 NP_001262 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1247 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|skin(1) 2 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) TTAGATACTGCTTAACCTGTC 0.398 NaN 0 0 0 0.249174 0 24 48 CHD2 1106 broad.mit.edu 37 15 93540504 93540504 + Silent SNP C C G rs141696596 by1000genomes TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr15:93540504C>G uc002bsp.2 + 30 4331 c.3756C>G c.(3754-3756)GTC>GTG p.V1252V CHD2_uc002bso.1_Silent_p.V1252V NM_001271 NP_001262 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1252 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|skin(1) 2 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) CCTGTCGTGTCAAAGCTGCAC 0.388 NaN 0 0 0 0.116897 0 30 46 TNRC6A 27327 broad.mit.edu 37 16 24815516 24815516 + Missense_Mutation SNP G G A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr16:24815516G>A uc002dmm.2 + 12 3827 c.3713G>A c.(3712-3714)CGA>CAA p.R1238Q TNRC6A_uc010bxs.2_Missense_Mutation_p.R985Q|TNRC6A_uc002dmn.2_Missense_Mutation_p.R985Q|TNRC6A_uc002dmo.2_Missense_Mutation_p.R926Q|TNRC6A_uc002dmp.2_5'UTR|TNRC6A_uc002dmq.2_5'Flank NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1238 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) CAAGACAAACGAATGGAGATA 0.398 NaN 0 0 0 0.099896 0 27 62 FBXW10 10517 broad.mit.edu 37 17 18671866 18671866 + Missense_Mutation SNP G G A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr17:18671866G>A uc002guk.2 + 10 1956 c.1724G>A c.(1723-1725)GGA>GAA p.G575E FBXW10_uc002guj.2_Missense_Mutation_p.G575E|FBXW10_uc002gul.2_Missense_Mutation_p.G604E|FBXW10_uc010cqh.1_Missense_Mutation_p.G575E NM_031456 NP_113644 Q5XX13 FBW10_HUMAN F-box and WD-40 domain protein 10 575 WD 6. ovary(1) 1 GGCCATGAGGGAGCCGTGAAA 0.527 NaN 0 0 0 0.204396 0 19 39 RHBDL3 162494 broad.mit.edu 37 17 30615898 30615898 + Missense_Mutation SNP G G A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr17:30615898G>A uc002hhe.1 + 4 396 c.382G>A c.(382-384)GGG>AGG p.G128R RHBDL3_uc010csw.1_Missense_Mutation_p.G120R|RHBDL3_uc010csx.1_Missense_Mutation_p.G128R|RHBDL3_uc010csy.1_Missense_Mutation_p.G30R|RHBDL3_uc002hhf.1_Missense_Mutation_p.G30R NM_138328 NP_612201 P58872 RHBL3_HUMAN rhomboid protease 3 128 proteolysis integral to membrane calcium ion binding|serine-type endopeptidase activity ovary(1) 1 Breast(31;0.116)|Ovarian(249;0.182) GGAGGAGAAGGGGCTGAGCCT 0.592 NaN 0 0 0 0.189662 0 20 17 SLFN12L 342615 broad.mit.edu 37 17 33807197 33807197 + Missense_Mutation SNP C C A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr17:33807197C>A uc002hjn.2 - 3 998 c.119G>T c.(118-120)GGA>GTA p.G40V NM_001145027 NP_001138499 schlafen family member 12-like ovary(1) 1 TAAGCCATTTCCACGCAGAAA 0.398 NaN 1 0 1.15088e-07 0.146539 1.18924e-07 17 15 DNAJC7 7266 broad.mit.edu 37 17 40169378 40169378 + Silent SNP G G A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr17:40169378G>A uc002hyo.2 - 1 294 c.57C>T c.(55-57)CTC>CTT p.L19L DNAJC7_uc010wgb.1_5'Flank|DNAJC7_uc010wgc.1_5'UTR|DNAJC7_uc002hyp.2_5'UTR|DNAJC7_uc010cxw.2_5'Flank|NKIRAS2_uc002hyq.2_5'Flank|NKIRAS2_uc010wgd.1_5'Flank|NKIRAS2_uc002hyr.2_5'Flank|NKIRAS2_uc002hys.2_5'Flank|NKIRAS2_uc010wge.1_5'Flank|NKIRAS2_uc002hyt.2_5'Flank NM_003315 NP_003306 Q99615 DNJC7_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 7 19 chaperone cofactor-dependent protein refolding cytoplasm|cytoskeleton|nucleus heat shock protein binding|unfolded protein binding ovary(1) 1 all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305) CTTGGTCGTCGAGCAGCTCCG 0.657 NaN 0 0 0 0.139131 0 52 72 MAP3K14 9020 broad.mit.edu 37 17 43345029 43345029 + Silent SNP C C T TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr17:43345029C>T uc002iiw.1 - 13 2179 c.2070G>A c.(2068-2070)CCG>CCA p.P690P LOC100133991_uc010dah.2_Intron|LOC100133991_uc002iit.3_Intron|LOC100133991_uc010dai.2_Intron|MAP3K14_uc002iiu.1_Silent_p.P220P|MAP3K14_uc010daj.1_RNA|MAP3K14_uc002iiv.1_Silent_p.P274P NM_003954 NP_003945 Q99558 M3K14_HUMAN mitogen-activated protein kinase kinase kinase 690 cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation cytosol ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding central_nervous_system(3)|breast(2)|lung(1)|ovary(1)|stomach(1) 8 AAAGCTCTCTCGGCTGGGCAT 0.607 NaN 0 0 0 0.131918 0 46 60 ABCC3 8714 broad.mit.edu 37 17 48741058 48741058 + Missense_Mutation SNP A A G TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr17:48741058A>G uc002isl.2 + 9 1095 c.1015A>G c.(1015-1017)ATC>GTC p.I339V ABCC3_uc002isk.3_Missense_Mutation_p.I339V|ABCC3_uc002ism.2_Missense_Mutation_p.I21V NM_003786 NP_003777 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C, member 3 339 Extracellular (By similarity).|ABC transmembrane type-1 1. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity skin(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) GATCAGGTTTATCTCCAACCC 0.587 NaN 0 0 0 0.108266 0 27 49 UNC13D 201294 broad.mit.edu 37 17 73832317 73832317 + Silent SNP G G A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr17:73832317G>A uc002jpp.2 - 16 1790 c.1410C>T c.(1408-1410)TTC>TTT p.F470F UNC13D_uc010wsk.1_Silent_p.F470F|UNC13D_uc002jpq.1_Silent_p.F120F|UNC13D_uc010dgq.1_Silent_p.F266F NM_199242 NP_954712 Q70J99 UN13D_HUMAN unc-13 homolog D 470 Interaction with RAB27A. positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding upper_aerodigestive_tract(1)|skin(1) 2 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) GCTTCAGGTGGAACCATTCAG 0.667 NaN Familial_Hemophagocytic_Lymphohistiocytosis 0 0 0 0.058154 0 10 9 CANT1 124583 broad.mit.edu 37 17 76993384 76993384 + Silent SNP G G A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr17:76993384G>A uc002jwn.2 - 4 760 c.321C>T c.(319-321)ATC>ATT p.I107I CANT1_uc002jwk.2_Silent_p.I107I|CANT1_uc002jwj.2_Silent_p.I107I|CANT1_uc002jwl.2_RNA|CANT1_uc002jwm.1_5'Flank NM_001159772 NP_001153244 Q8WVQ1 CANT1_HUMAN calcium activated nucleotidase 1 107 Lumenal (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity 0 BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139) CGATAACTGCGATTCGATACC 0.577 NaN T ETV4 prostate 0 0 0 0.139131 0 109 127 THOC4 10189 broad.mit.edu 37 17 79847100 79847100 + Missense_Mutation SNP C C T TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr17:79847100C>T uc002kbu.2 - 3 502 c.496G>A c.(496-498)GCC>ACC p.A166T ANAPC11_uc002kbv.1_5'Flank|ANAPC11_uc002kbw.1_5'Flank|ANAPC11_uc002kbx.1_5'Flank|ANAPC11_uc002kby.1_5'Flank|ANAPC11_uc002kbz.1_5'Flank|ANAPC11_uc002kca.1_5'Flank|ANAPC11_uc002kcb.1_5'Flank|ANAPC11_uc002kcc.1_5'Flank NM_005782 NP_005773 Q86V81 THOC4_HUMAN THO complex 4 159 RRM.|Ala/Arg/Gly-rich. intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex nucleotide binding|protein binding|RNA binding 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) GCCTTCAGGGCATCTGCCTTC 0.582 NaN 0 0 0 0.279207 0 26 26 DCXR 51181 broad.mit.edu 37 17 79994847 79994847 + Missense_Mutation SNP C C G TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr17:79994847C>G uc002kdg.2 - 3 208 c.193G>C c.(193-195)GAG>CAG p.E65Q NM_016286 NP_057370 Q7Z4W1 DCXR_HUMAN dicarbonyl/L-xylulose reductase 65 D-xylose metabolic process|glucose metabolic process|protein homotetramerization|xylulose metabolic process membrane binding|L-xylulose reductase (NADP+) activity 0 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) TCGGTGGCCTCCCAGTCACCC 0.677 NaN 0 0 0 0.184627 0 4 6 HEXDC 284004 broad.mit.edu 37 17 80400259 80400259 + Silent SNP G G A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr17:80400259G>A uc002kew.2 + 12 1511 c.1460G>A c.(1459-1461)TGA>TAA p.*487* HEXDC_uc002kev.3_Missense_Mutation_p.E517K|HEXDC_uc010diq.2_Silent_p.L489L|HEXDC_uc010wvm.1_RNA Q8WVB3 HEXDC_HUMAN SubName: Full=Hexosaminidase (Glycosyl hydrolase family 20, catalytic domain) containing, isoform CRA_c; SubName: Full=Hexosaminidase D; 487 carbohydrate metabolic process cytoplasm|nucleus beta-N-acetylhexosaminidase activity|cation binding ovary(1)|skin(1) 2 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) CAGGACCCCTGAGGGGAGAGC 0.701 NaN 0 0 0 0.125774 0 30 31 C18orf19 125228 broad.mit.edu 37 18 13681707 13681707 + Missense_Mutation SNP G G C TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr18:13681707G>C uc010dlh.2 - 3 802 c.370C>G c.(370-372)CAA>GAA p.Q124E C18orf19_uc010dlg.2_Missense_Mutation_p.Q124E|C18orf19_uc010dli.2_Missense_Mutation_p.Q124E|C18orf19_uc002ksj.3_Missense_Mutation_p.Q124E|C18orf19_uc010dlj.2_Intron NM_001098801 NP_001092271 Q96ND0 CR019_HUMAN hypothetical protein LOC125228 124 DUF1279. integral to membrane breast(2) 2 TTGAATCGTTGATAAAGACTA 0.388 NaN 0 0 0 0.139131 0 59 70 ALKBH7 84266 broad.mit.edu 37 19 6372969 6372969 + Silent SNP G G A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr19:6372969G>A uc002meo.1 + 1 526 c.138G>A c.(136-138)GAG>GAA p.E46E NM_032306 NP_115682 Q9BT30 ALKB7_HUMAN spermatogenesis associated 11 precursor 46 extracellular region|nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 CAGAGGAGGAGACGCTGAGCC 0.736 NaN 0 0 0 0.248553 0 7 2 MED26 9441 broad.mit.edu 37 19 16688392 16688392 + Silent SNP G G T TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr19:16688392G>T uc002nen.1 - 3 510 c.249C>A c.(247-249)CTC>CTA p.L83L MED26_uc002nee.2_RNA NM_004831 NP_004822 O95402 MED26_HUMAN mediator complex subunit 26 83 TFIIS N-terminal. regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity ovary(2) 2 CCGGCTCGATGAGCTTCTGCC 0.672 NaN 1 0 2.32416e-17 0.249174 2.53693e-17 24 26 PDE4C 5143 broad.mit.edu 37 19 18327578 18327578 + Silent SNP C C G TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr19:18327578C>G uc010xqc.1 - 12 1938 c.1458G>C c.(1456-1458)CTG>CTC p.L486L PDE4C_uc002nik.3_Silent_p.L486L|PDE4C_uc002nil.3_Silent_p.L486L|PDE4C_uc002nif.3_Silent_p.L255L|PDE4C_uc002nig.3_Silent_p.L201L|PDE4C_uc002nih.3_Silent_p.L256L|PDE4C_uc010ebk.2_Silent_p.L380L|PDE4C_uc002nii.3_Silent_p.L454L|PDE4C_uc010ebl.2_Silent_p.L200L|PDE4C_uc010xqd.1_Silent_p.L255L NM_001098819 NP_001092289 Q08493 PDE4C_HUMAN phosphodiesterase 4C isoform PDE4C-2 486 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding ovary(2)|skin(2)|central_nervous_system(1) 5 Dyphylline(DB00651) TGCGCAGACTCAGTCGCTGCT 0.617 NaN 0 0 0 0.257332 0 42 62 HAPLN4 404037 broad.mit.edu 37 19 19371709 19371709 + Missense_Mutation SNP C C T rs114536312 byFrequency TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr19:19371709C>T uc002nmb.2 - 3 452 c.397G>A c.(397-399)GTC>ATC p.V133I HAPLN4_uc002nmc.2_Missense_Mutation_p.V133I NM_023002 NP_075378 Q86UW8 HPLN4_HUMAN hyaluronan and proteoglycan link protein 4 133 Ig-like C2-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding pancreas(1) 1 Epithelial(12;0.00575) TGCAGCGTGACGTTGCGGAGG 0.652 NaN 0 0 0 0.294199 0 27 49 ANKRD27 84079 broad.mit.edu 37 19 33113450 33113450 + Missense_Mutation SNP G G C TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr19:33113450G>C uc002ntn.1 - 18 1861 c.1705C>G c.(1705-1707)CTA>GTA p.L569V NM_032139 NP_115515 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 569 ANK 5. early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(2)|skin(2)|pancreas(1) 5 Esophageal squamous(110;0.137) GCAATGTGTAGAGGGGTGTCT 0.542 NaN 0 0 0 0.139131 0 67 84 ERCC2 2068 broad.mit.edu 37 19 45868143 45868143 + Silent SNP G G A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr19:45868143G>A uc002pbj.2 - 7 594 c.547C>T c.(547-549)CTG>TTG p.L183L ERCC2_uc002pbi.2_5'Flank|ERCC2_uc010ejz.2_Intron|ERCC2_uc002pbk.2_Silent_p.L159L|ERCC2_uc002pbl.3_Silent_p.L159L|ERCC2_uc010xxj.1_Intron NM_000400 NP_000391 P18074 ERCC2_HUMAN excision repair cross-complementing rodent 183 Helicase ATP-binding. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding lung(2)|pancreas(1) 3 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) CGCCGCCCCAGGGCCTTCAGG 0.632 NaN Mis|N|F|S skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 0 0 0 0.219247 0 20 20 HIF3A 64344 broad.mit.edu 37 19 46823770 46823770 + Silent SNP C C A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr19:46823770C>A uc002peh.2 + 9 1125 c.1096C>A c.(1096-1098)CGG>AGG p.R366R HIF3A_uc002peg.3_Silent_p.R366R|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_Silent_p.R310R|HIF3A_uc002pej.1_Silent_p.R297R|HIF3A_uc002pek.2_Silent_p.R310R|HIF3A_uc010xxy.1_Silent_p.R297R|HIF3A_uc002pel.2_Silent_p.R364R|HIF3A_uc010xxz.1_Silent_p.R315R NM_152795 NP_690008 Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 366 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) ACCCATTCAGCGGGGCGCCCC 0.657 NaN 1 0 5.20006e-24 0.301197 5.75721e-24 44 39 TULP2 7288 broad.mit.edu 37 19 49384274 49384274 + Silent SNP G G A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr19:49384274G>A uc002pkz.2 - 13 1708 c.1557C>T c.(1555-1557)TTC>TTT p.F519F NM_003323 NP_003314 O00295 TULP2_HUMAN tubby like protein 2 519 visual perception cytoplasm|extracellular region ovary(1)|kidney(1)|skin(1) 3 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234) GCTTCTAATTGAAACTGGACA 0.512 NaN 0 0 0 0.134883 0 28 49 TULP2 7288 broad.mit.edu 37 19 49384281 49384281 + Missense_Mutation SNP G G A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr19:49384281G>A uc002pkz.2 - 13 1701 c.1550C>T c.(1549-1551)TCC>TTC p.S517F NM_003323 NP_003314 O00295 TULP2_HUMAN tubby like protein 2 517 visual perception cytoplasm|extracellular region ovary(1)|kidney(1)|skin(1) 3 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234) ATTGAAACTGGACAAGCAGAT 0.517 NaN 0 0 0 0.173368 0 31 48 TPO 7173 broad.mit.edu 37 2 1437377 1437377 + Missense_Mutation SNP C C T TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr2:1437377C>T uc002qww.2 + 4 438 c.347C>T c.(346-348)ACG>ATG p.T116M TPO_uc010ewj.2_Intron|TPO_uc010yin.1_Missense_Mutation_p.T116M|TPO_uc002qwu.2_Missense_Mutation_p.T116M|TPO_uc002qwr.2_Missense_Mutation_p.T116M|TPO_uc002qwx.2_Missense_Mutation_p.T116M|TPO_uc010yio.1_Missense_Mutation_p.T116M|TPO_uc010yip.1_Missense_Mutation_p.T116M NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 116 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CAGCATCCAACGGGTAATGTG 0.498 NaN 0 0 0 0.27861 0 8 5 CCT7 10574 broad.mit.edu 37 2 73466864 73466864 + Missense_Mutation SNP G G A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr2:73466864G>A uc002siz.2 + 2 202 c.100G>A c.(100-102)GAG>AAG p.E34K CCT7_uc002sja.2_Intron|CCT7_uc010yrf.1_5'UTR|CCT7_uc010feu.2_Missense_Mutation_p.E34K|CCT7_uc010yrg.1_5'UTR|CCT7_uc010yrh.1_5'UTR|CCT7_uc010yri.1_Intron NM_006429 NP_006420 Q99832 TCPH_HUMAN chaperonin containing TCP1, subunit 7 isoform a 34 'de novo' posttranslational protein folding ATP binding|unfolded protein binding 0 GGTGATTGCTGAGGCTGTAAG 0.522 NaN 0 0 0 0.105934 0 14 13 IL18R1 8809 broad.mit.edu 37 2 103013262 103013262 + Silent SNP G G A rs138611669 TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr2:103013262G>A uc002tbw.3 + 11 1692 c.1542G>A c.(1540-1542)AAG>AAA p.K514K IL18R1_uc010ywc.1_Silent_p.K513K|IL18R1_uc010ywd.1_Silent_p.K358K|IL18R1_uc010fiy.2_Silent_p.K514K NM_003855 NP_003846 Q13478 IL18R_HUMAN interleukin 18 receptor 1 precursor 514 TIR.|Cytoplasmic (Potential). innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity ovary(2)|pancreas(1) 3 GGTTCTGGAAGAACCTTCTTT 0.413 NaN 0 0 0 0.125774 0 29 52 MFSD9 84804 broad.mit.edu 37 2 103343352 103343352 + Missense_Mutation SNP C C G TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr2:103343352C>G uc002tcb.2 - 4 447 c.379G>C c.(379-381)GGA>CGA p.G127R MFSD9_uc010fja.2_RNA NM_032718 NP_116107 Q8NBP5 MFSD9_HUMAN major facilitator superfamily domain containing 127 Helical; (Potential). transmembrane transport integral to membrane|plasma membrane transporter activity ovary(2)|breast(2) 4 GTGGCTGCTCCGAGAAGGAGA 0.483 NaN 0 0 0 0.26419 0 25 22 RGPD3 653489 broad.mit.edu 37 2 107084739 107084739 + Silent SNP A A G rs6718521 by1000genomes TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr2:107084739A>G uc010ywi.1 - 1 63 c.6T>C c.(4-6)AGT>AGC p.S2S NM_001144013 NP_001137485 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 2 intracellular transport binding ovary(1) 1 CCTTGCTGCAACTCATCGCGC 0.657 NaN 0 0 0 0.115264 0 2 4 GULP1 51454 broad.mit.edu 37 2 189449086 189449086 + Missense_Mutation SNP A A G TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr2:189449086A>G uc010fru.2 + 10 1165 c.704A>G c.(703-705)AAT>AGT p.N235S GULP1_uc002uqd.2_Missense_Mutation_p.N235S|GULP1_uc010zfw.1_Missense_Mutation_p.N132S|GULP1_uc002uqf.2_Missense_Mutation_p.N235S|GULP1_uc002uqg.2_Missense_Mutation_p.N235S|GULP1_uc002uqh.1_Missense_Mutation_p.N55S NM_016315 NP_057399 Q9UBP9 GULP1_HUMAN GULP, engulfment adaptor PTB domain containing 235 apoptosis|lipid transport|phagocytosis, engulfment cytoplasm|intracellular membrane-bounded organelle signal transducer activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158) CCTACTCGCAATGGCACACAG 0.408 NaN 0 0 0 0.249174 0 22 72 FN1 2335 broad.mit.edu 37 2 216249686 216249686 + Silent SNP C C T rs142628915 TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr2:216249686C>T uc002vfa.2 - 29 4892 c.4626G>A c.(4624-4626)CCG>CCA p.P1542P FN1_uc002vfb.2_Silent_p.P1451P|FN1_uc002vfc.2_Silent_p.P1451P|FN1_uc002vfd.2_Silent_p.P1542P|FN1_uc002vfe.2_Silent_p.P1451P|FN1_uc002vff.2_Silent_p.P1451P|FN1_uc002vfg.2_Silent_p.P1451P|FN1_uc002vfh.2_Silent_p.P1451P|FN1_uc002vfi.2_Silent_p.P1542P|FN1_uc002vfj.2_Silent_p.P1542P|FN1_uc002vez.2_5'UTR|FN1_uc010zjp.1_Silent_p.P169P|FN1_uc010fvc.1_5'Flank|FN1_uc010fvd.1_5'Flank NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 1545 Fibronectin type-III 11. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCAGGTCCCTCGGAACATCAG 0.418 NaN 0 0 0 0.080935 0 11 8 FARP2 9855 broad.mit.edu 37 2 242415381 242415381 + Silent SNP G G A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr2:242415381G>A uc002wbi.1 + 19 2358 c.2241G>A c.(2239-2241)GAG>GAA p.E747E hsa-mir-3133|MI0014153_5'Flank NM_014808 NP_055623 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 747 axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) TGGGCATAGAGAACCTCATTG 0.448 NaN 0 0 0 0.217242 0 5 1 TGM3 7053 broad.mit.edu 37 20 2312720 2312720 + Missense_Mutation SNP C C T TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr20:2312720C>T uc002wfx.3 + 10 1503 c.1406C>T c.(1405-1407)ACG>ATG p.T469M NM_003245 NP_003236 Q08188 TGM3_HUMAN transglutaminase 3 precursor 469 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity large_intestine(4)|ovary(3)|breast(1)|skin(1) 9 L-Glutamine(DB00130) TTTGCCGCGACGTCTTCAATG 0.517 NaN 0 0 0 0.173368 0 35 37 ASXL1 171023 broad.mit.edu 37 20 31021691 31021691 + Nonsense_Mutation SNP A A T TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr20:31021691A>T uc002wxs.2 + 11 2116 c.1690A>T c.(1690-1692)AAA>TAA p.K564* ASXL1_uc010geb.2_Nonsense_Mutation_p.K455* NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 isoform 1 564 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1) 248 ACAGCCCACTAAAGAGGAGCC 0.527 NaN F|N|Mis MDS|CMML 0 0 0 0.139131 0 46 78 SLC35C2 51006 broad.mit.edu 37 20 44979476 44979476 + Silent SNP G G T TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr20:44979476G>T uc002xro.2 - 9 1432 c.891C>A c.(889-891)CTC>CTA p.L297L SLC35C2_uc002xrp.2_Silent_p.L276L|SLC35C2_uc002xrq.2_Silent_p.L297L|SLC35C2_uc002xrr.2_Silent_p.L297L|SLC35C2_uc010zxn.1_Silent_p.L162L|SLC35C2_uc010zxo.1_Silent_p.L183L|SLC35C2_uc010zxp.1_Silent_p.L326L NM_173179 NP_775271 Q9NQQ7 S35C2_HUMAN solute carrier family 35, member C2 isoform a 297 Helical; (Potential). transport integral to membrane ovary(1) 1 Myeloproliferative disorder(115;0.0122) GCCAGTTCAGGAGGCTGATCT 0.577 NaN 1 0 2.23348e-06 0.146539 2.29265e-06 16 67 C21orf29 54084 broad.mit.edu 37 21 45945598 45945598 + Missense_Mutation SNP C C T TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr21:45945598C>T uc002zfe.1 - 8 1340 c.1274G>A c.(1273-1275)CGA>CAA p.R425Q C21orf29_uc010gpv.1_Missense_Mutation_p.R357Q NM_144991 NP_659428 Q8WU66 TSEAR_HUMAN chromosome 21 open reading frame 29 precursor 425 EAR 3. cell adhesion extracellular region structural molecule activity 0 CTCCCAGTCTCGGGCGCTGTG 0.572 NaN 0 0 0 0.139131 0 54 87 DAZL 1618 broad.mit.edu 37 3 16636050 16636050 + Missense_Mutation SNP A A G TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr3:16636050A>G uc003cbb.2 - 8 905 c.611T>C c.(610-612)GTT>GCT p.V204A DAZL_uc003cba.2_Missense_Mutation_p.V224A NM_001351 NP_001342 Q92904 DAZL_HUMAN deleted in azoospermia-like 204 germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis cytoplasm|nucleus nucleotide binding|protein binding|RNA binding|translation activator activity 0 CGGAGGTACAACATAGCTCCT 0.299 NaN 0 0 0 0.058154 0 10 10 KCNH8 131096 broad.mit.edu 37 3 19384094 19384094 + Missense_Mutation SNP G G T TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr3:19384094G>T uc003cbk.1 + 4 653 c.458G>T c.(457-459)AGA>ATA p.R153I KCNH8_uc011awe.1_Missense_Mutation_p.R153I|KCNH8_uc010hex.1_5'UTR NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 153 Cytoplasmic (Potential). integral to membrane two-component sensor activity lung(4)|ovary(1) 5 GTCAAAGGAAGATCAAGAGCA 0.448 NaN 1 0 2.79863e-10 0.099896 2.99164e-10 26 33 CCR4 1233 broad.mit.edu 37 3 32995542 32995542 + Missense_Mutation SNP G G A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr3:32995542G>A uc003cfg.1 + 2 796 c.628G>A c.(628-630)GGA>AGA p.G210R NM_005508 NP_005499 P51679 CCR4_HUMAN chemokine (C-C motif) receptor 4 210 Helical; Name=5; (Potential). chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response integral to plasma membrane lung(1) 1 CAACATTCTCGGATTGGTGAT 0.458 NaN 0 0 0 0.139131 0 51 68 BSN 8927 broad.mit.edu 37 3 49692105 49692105 + Missense_Mutation SNP C C T rs141249428 byFrequency TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr3:49692105C>T uc003cxe.3 + 5 5230 c.5116C>T c.(5116-5118)CGG>TGG p.R1706W NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 1706 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) AATCCCAGGACGGCAGTCGAC 0.587 NaN 0 0 0 0.246493 0 42 72 ITIH1 3697 broad.mit.edu 37 3 52813598 52813598 + Silent SNP G G A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr3:52813598G>A uc003dfs.2 + 5 585 c.561G>A c.(559-561)GTG>GTA p.V187V ITIH1_uc010hmn.1_RNA NM_002215 NP_002206 P19827 ITIH1_HUMAN inter-alpha (globulin) inhibitor H1 187 hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) AGCAGCTGGTGCATCATTTTG 0.532 NaN 0 0 0 0.235728 0 38 31 SLMAP 7871 broad.mit.edu 37 3 57850350 57850350 + Nonsense_Mutation SNP G G T rs138089766 TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr3:57850350G>T uc003dje.1 + 10 1247 c.1042G>T c.(1042-1044)GAA>TAA p.E348* SLMAP_uc003djc.1_Nonsense_Mutation_p.E348*|SLMAP_uc003djd.1_Nonsense_Mutation_p.E348*|SLMAP_uc003djf.1_Nonsense_Mutation_p.E348*|SLMAP_uc003djg.1_5'UTR NM_007159 NP_009090 Q14BN4 SLMAP_HUMAN sarcolemma associated protein 348 Potential.|Cytoplasmic (Potential). muscle contraction|protein folding integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum unfolded protein binding 0 BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182) TAAAATAGATGAAATGGAAGA 0.353 NaN 1 0 1.32136e-16 0.268233 1.43224e-16 44 51 PLXND1 23129 broad.mit.edu 37 3 129324823 129324823 + Silent SNP G G A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr3:129324823G>A uc003emx.2 - 1 760 c.660C>T c.(658-660)TTC>TTT p.F220F NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 220 Extracellular (Potential).|Sema. axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 TGCGCGGGAAGAAGGAGCTGC 0.607 NaN 0 0 0 0.09319 0 12 16 KLHL24 54800 broad.mit.edu 37 3 183368873 183368873 + Silent SNP G G C TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr3:183368873G>C uc003flv.2 + 3 1024 c.729G>C c.(727-729)CTG>CTC p.L243L KLHL24_uc003flw.2_Silent_p.L243L|KLHL24_uc003flx.2_Silent_p.L243L NM_017644 NP_060114 Q6TFL4 KLH24_HUMAN DRE1 protein 243 BACK. axon|cytoplasm|perikaryon ovary(1) 1 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) CCGTTGATCTGAGAAGACCAC 0.423 NaN 0 0 0 0.116897 0 30 38 KLHL24 54800 broad.mit.edu 37 3 183368878 183368878 + Missense_Mutation SNP G G A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr3:183368878G>A uc003flv.2 + 3 1029 c.734G>A c.(733-735)AGA>AAA p.R245K KLHL24_uc003flw.2_Missense_Mutation_p.R245K|KLHL24_uc003flx.2_Missense_Mutation_p.R245K NM_017644 NP_060114 Q6TFL4 KLH24_HUMAN DRE1 protein 245 BACK. axon|cytoplasm|perikaryon ovary(1) 1 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) GATCTGAGAAGACCACTGTTA 0.423 NaN 0 0 0 0.294199 0 27 35 KLHL24 54800 broad.mit.edu 37 3 183369003 183369003 + Missense_Mutation SNP G G A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr3:183369003G>A uc003flv.2 + 3 1154 c.859G>A c.(859-861)GAA>AAA p.E287K KLHL24_uc003flw.2_Missense_Mutation_p.E287K|KLHL24_uc003flx.2_Missense_Mutation_p.E287K NM_017644 NP_060114 Q6TFL4 KLH24_HUMAN DRE1 protein 287 axon|cytoplasm|perikaryon ovary(1) 1 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) GTTGTTGCATGAAGCAAGACG 0.418 NaN 0 0 0 0.249174 0 19 24 ARAP2 116984 broad.mit.edu 37 4 36130168 36130168 + Nonsense_Mutation SNP C C T TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr4:36130168C>T uc003gsq.1 - 21 3965 c.3627G>A c.(3625-3627)TGG>TGA p.W1209* NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 1209 Rho-GAP. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 AAGCAGAGATCCAATATGGGT 0.318 NaN 0 0 0 0.234183 0 22 37 WDR19 57728 broad.mit.edu 37 4 39233498 39233498 + Silent SNP C C T TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr4:39233498C>T uc003gtv.2 + 18 2218 c.2064C>T c.(2062-2064)CAC>CAT p.H688H WDR19_uc011byi.1_Silent_p.H528H|WDR19_uc003gtw.1_Silent_p.H285H NM_025132 NP_079408 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 688 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 GTCTACATCACATGGAAGTGG 0.413 NaN 0 0 0 0.125774 0 29 48 COX7B2 170712 broad.mit.edu 37 4 46737171 46737171 + Silent SNP G G A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr4:46737171G>A uc003gxf.2 - 3 219 c.39C>T c.(37-39)CTC>CTT p.L13L COX7B2_uc010ige.2_RNA NM_130902 NP_570972 Q8TF08 CX7B2_HUMAN cytochrome c oxidase subunit VIIb2 precursor 13 integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity 0 TTTGAATCTTGAGACTGCTTA 0.423 NaN 0 0 0 0.203993 0 38 61 FRYL 285527 broad.mit.edu 37 4 48549632 48549632 + Missense_Mutation SNP T T A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr4:48549632T>A uc003gyh.1 - 41 5648 c.5043A>T c.(5041-5043)AAA>AAT p.K1681N FRYL_uc003gyg.1_Missense_Mutation_p.K377N|FRYL_uc003gyi.1_Missense_Mutation_p.K570N|FRYL_uc003gyj.1_5'Flank NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 1681 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 GTGCAACTTGTTTGACTGTAA 0.343 NaN 0 0 0 0.134883 0 28 21 RXFP1 59350 broad.mit.edu 37 4 159547979 159547979 + Missense_Mutation SNP G G C TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr4:159547979G>C uc003ipz.2 + 10 845 c.763G>C c.(763-765)GAA>CAA p.E255Q RXFP1_uc010iqj.1_Missense_Mutation_p.E84Q|RXFP1_uc011cja.1_Intron|RXFP1_uc010iqo.2_Missense_Mutation_p.E255Q|RXFP1_uc011cjb.1_Missense_Mutation_p.E201Q|RXFP1_uc010iqk.2_Missense_Mutation_p.E123Q|RXFP1_uc011cjc.1_Missense_Mutation_p.E174Q|RXFP1_uc011cjd.1_Missense_Mutation_p.E174Q|RXFP1_uc010iql.2_Intron|RXFP1_uc011cje.1_Missense_Mutation_p.E282Q|RXFP1_uc010iqm.2_Missense_Mutation_p.E222Q|RXFP1_uc011cjf.1_Missense_Mutation_p.E125Q|RXFP1_uc010iqn.2_Missense_Mutation_p.E201Q NM_021634 NP_067647 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 255 Extracellular (Potential).|LRR 5. integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) CAGGGACCTTGAAGGCAACCA 0.264 NaN 0 0 0 0.234183 0 18 21 PLEKHG4B 153478 broad.mit.edu 37 5 163407 163407 + Missense_Mutation SNP C C G TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr5:163407C>G uc003jak.2 + 11 2202 c.2152C>G c.(2152-2154)CAT>GAT p.H718D NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G 718 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(2) 2 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) CCCCAGGAAACATCCCCAGAA 0.607 NaN 0 0 0 0.139131 0 67 82 EGFLAM 133584 broad.mit.edu 37 5 38370443 38370443 + Silent SNP G G A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr5:38370443G>A uc003jlc.1 + 6 915 c.591G>A c.(589-591)CAG>CAA p.Q197Q EGFLAM_uc003jlb.1_Silent_p.Q197Q NM_152403 NP_689616 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G 197 Fibronectin type-III 2. cell junction|proteinaceous extracellular matrix|synapse pancreas(3)|skin(3)|ovary(1) 7 all_lung(31;0.000385) AGCGGATCCAGATGGACTCCA 0.507 NaN 0 0 0 0.235728 0 40 61 PAIP1 10605 broad.mit.edu 37 5 43547922 43547922 + Missense_Mutation SNP C C G TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr5:43547922C>G uc003job.2 - 3 776 c.529G>C c.(529-531)GAA>CAA p.E177Q PAIP1_uc003joa.2_Missense_Mutation_p.E98Q|PAIP1_uc010ivp.2_Missense_Mutation_p.E98Q|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Missense_Mutation_p.E65Q NM_006451 NP_006442 Q9H074 PAIP1_HUMAN poly(A) binding protein interacting protein 1 177 MIF4G. mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation cytosol protein binding|RNA binding|translation activator activity ovary(1) 1 Lung NSC(6;2.07e-05) ATTTCAGTTTCAAAACTGCCA 0.398 NaN 0 0 0 0.268233 0 43 55 KCNN2 3781 broad.mit.edu 37 5 113698898 113698898 + Silent SNP C C T TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr5:113698898C>T uc003kqo.2 + 1 883 c.426C>T c.(424-426)GGC>GGT p.G142G NM_021614 NP_067627 Q9H2S1 KCNN2_HUMAN small conductance calcium-activated potassium 142 Helical; Name=Segment S1; (Potential). integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity ovary(2) 2 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) TCATCTTCGGCATGTTCGGCA 0.612 NaN 0 0 0 0.173368 0 35 2 FAM193B 54540 broad.mit.edu 37 5 176958345 176958345 + Missense_Mutation SNP C C T TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr5:176958345C>T uc003mhs.3 - 7 2703 c.1114G>A c.(1114-1116)GAG>AAG p.E372K FAM193B_uc003mht.2_Missense_Mutation_p.E31K|FAM193B_uc003mhu.2_Intron|FAM193B_uc003mhv.2_Missense_Mutation_p.E31K|FAM193B_uc003mhw.2_RNA NM_019057 NP_061930 E9PET5 E9PET5_HUMAN hypothetical protein LOC54540 391 0 ACTTTGGGCTCCGTGCTGTTG 0.657 NaN 0 0 0 0.184627 0 5 0 RING1 6015 broad.mit.edu 37 6 33179090 33179090 + Missense_Mutation SNP G G T TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr6:33179090G>T uc003odk.2 + 5 805 c.611G>T c.(610-612)CGT>CTT p.R204L RING1_uc011dqx.1_Missense_Mutation_p.R204L|RING1_uc003odl.2_Missense_Mutation_p.R175L NM_002931 NP_002922 Q06587 RING1_HUMAN ring finger protein 1 204 Necessary for transcriptional repression (By similarity).|Nuclear localization signal (Potential). histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear speck|PcG protein complex protein binding|zinc ion binding ovary(1)|skin(1) 2 AAGCGACCCCGTGGAGGGGGC 0.711 NaN 1 0 4.54149e-19 0.249174 4.99241e-19 21 38 CDKN1A 1026 broad.mit.edu 37 6 36651906 36651906 + Nonsense_Mutation SNP C C T TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr6:36651906C>T uc003omm.3 + 2 150 c.28C>T c.(28-30)CAG>TAG p.Q10* CDKN1A_uc011dtq.1_Nonsense_Mutation_p.Q44*|CDKN1A_uc003oml.2_Nonsense_Mutation_p.Q10*|CDKN1A_uc003omn.2_Nonsense_Mutation_p.Q10* NM_000389 NP_000380 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A 10 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding ovary(1)|breast(1) 2 GGATGTCCGTCAGAACCCATG 0.637 NaN Multiple_Endocrine_Neoplasia_type_1 0 0 0 0.26419 0 21 15 CCND3 896 broad.mit.edu 37 6 41909293 41909293 + Missense_Mutation SNP A A C TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 A C A A Valid Somatic Phase_I WXS RNASeq Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr6:41909293A>C uc003orn.2 - 1 260 c.95T>G c.(94-96)CTC>CGC p.L32R CCND3_uc003orp.2_Intron|CCND3_uc011duk.1_Intron|CCND3_uc011dum.1_Intron|CCND3_uc003orm.2_5'Flank|CCND3_uc003oro.2_Missense_Mutation_p.L32R|CCND3_uc011dul.1_Missense_Mutation_p.L32R NM_001760 NP_001751 P30281 CCND3_HUMAN cyclin D3 isoform 2 32 Cyclin N-terminal. cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus protein kinase binding 0 Colorectal(47;0.121) Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CTCCAGGCGGAGCAGGCTCTG 0.552 NaN T IGH@ MM 0 0 0 0.248553 0 7 4 MAD2L1BP 9587 broad.mit.edu 37 6 43608115 43608115 + Missense_Mutation SNP G G C TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr6:43608115G>C uc003ovv.2 + 3 706 c.670G>C c.(670-672)GAT>CAT p.D224H MAD2L1BP_uc003ovu.2_Missense_Mutation_p.D256H NM_014628 NP_055443 Q15013 MD2BP_HUMAN MAD2L1 binding protein isoform 2 224 mitotic cell cycle checkpoint|regulation of exit from mitosis cytoplasm|nucleus|spindle protein binding 0 all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000351)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) CTGTGGAGAAGATTGGTTTCG 0.567 NaN 0 0 0 0.163468 0 34 25 TNFRSF21 27242 broad.mit.edu 37 6 47200581 47200581 + Missense_Mutation SNP C C G TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr6:47200581C>G uc003oyv.2 - 6 2321 c.1888G>C c.(1888-1890)GAA>CAA p.E630Q NM_014452 NP_055267 O75509 TNR21_HUMAN tumor necrosis factor receptor superfamily, 630 Cytoplasmic (Potential). cellular lipid metabolic process cytoplasm|integral to membrane protein binding|receptor activity 0 Lung(136;0.189) CCAATAATTTCGAATAGCCGG 0.493 NaN 0 0 0 0.139131 0 68 108 DNAH11 8701 broad.mit.edu 37 7 21818711 21818711 + Missense_Mutation SNP G G C TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr7:21818711G>C uc003svc.2 + 58 9524 c.9493G>C c.(9493-9495)GAG>CAG p.E3165Q NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3165 Stalk (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 CGCTGATGCTGAGGAGCGAAA 0.463 NaN Kartagener_syndrome 0 0 0 0.09319 0 12 11 ZNF479 90827 broad.mit.edu 37 7 57188745 57188745 + Missense_Mutation SNP T T C TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr7:57188745T>C uc010kzo.2 - 5 648 c.377A>G c.(376-378)AAA>AGA p.K126R NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 126 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) ACAGCATTTTTTAAATTGTAA 0.368 NaN 0 0 0 0.09319 0 10 105 LIMK1 3984 broad.mit.edu 37 7 73535372 73535372 + Missense_Mutation SNP G G A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr7:73535372G>A uc003uaa.1 + 15 1939 c.1774G>A c.(1774-1776)GAG>AAG p.E592K RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_RNA|LIMK1_uc003uab.2_Missense_Mutation_p.E558K NM_002314 NP_002305 P53667 LIMK1_HUMAN LIM domain kinase 1 592 Protein kinase. actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction cytosol|growth cone|nucleus ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding stomach(2)|ovary(1) 3 Lung NSC(55;0.137) TCTGGACCCCGAGAAGAGGTG 0.672 NaN 0 0 0 0.139131 0 51 76 CFTR 1080 broad.mit.edu 37 7 117232105 117232105 + Silent SNP G G A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr7:117232105G>A uc003vjd.2 + 14 2016 c.1884G>A c.(1882-1884)GGG>GGA p.G628G CFTR_uc011knq.1_Silent_p.G34G NM_000492 NP_000483 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance 628 Cytoplasmic (Potential).|ABC transporter 1. G -> R (in CF). respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding central_nervous_system(2)|skin(2)|ovary(1) 5 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) ATTTTTATGGGACATTTTCAG 0.343 NaN Cystic_Fibrosis 0 0 0 0.139131 0 48 62 TACC1 6867 broad.mit.edu 37 8 38677716 38677716 + Silent SNP C C G rs61734982 byFrequency TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr8:38677716C>G uc010lwp.2 + 3 1333 c.954C>G c.(952-954)CTC>CTG p.L318L TACC1_uc011lby.1_Silent_p.L123L|TACC1_uc003xma.2_Intron|TACC1_uc003xlz.2_Silent_p.L123L|TACC1_uc003xmc.3_Silent_p.L123L|TACC1_uc011lbz.1_Silent_p.L334L|TACC1_uc003xmb.3_Silent_p.L273L|TACC1_uc003xme.1_Intron|TACC1_uc003xmd.1_Intron|TACC1_uc010lwo.1_Intron|TACC1_uc003xmf.3_Intron|TACC1_uc011lca.1_Silent_p.L318L|TACC1_uc011lcb.1_Silent_p.L123L|TACC1_uc011lcc.1_Silent_p.L123L|TACC1_uc011lcd.1_RNA|TACC1_uc003xmh.3_Silent_p.L123L|TACC1_uc010lwq.2_Silent_p.L123L NM_006283 NP_006274 O75410 TACC1_HUMAN transforming, acidic coiled-coil containing 318 Interaction with YEATS4. cell cycle|cell division intermediate filament cytoskeleton|microtubule organizing center|nucleus protein binding ovary(1) 1 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065) LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235) GCTCACCTCTCAAGCTTGAGT 0.527 NaN 0 0 0 0.301197 0 47 43 DCAF4L2 138009 broad.mit.edu 37 8 88886086 88886086 + Missense_Mutation SNP T T A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr8:88886086T>A uc003ydz.2 - 1 211 c.114A>T c.(112-114)AGA>AGT p.R38S NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 38 ovary(1) 1 AGTTGGCGAATCTGAGGAAAC 0.522 NaN 0 0 0 0.132662 0 15 58 MPDZ 8777 broad.mit.edu 37 9 13137991 13137991 + Missense_Mutation SNP C C T TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr9:13137991C>T uc010mia.1 - 28 4222 c.4165G>A c.(4165-4167)GAT>AAT p.D1389N MPDZ_uc003zky.3_5'Flank|MPDZ_uc010mib.2_Missense_Mutation_p.D94N|MPDZ_uc010mhx.2_Missense_Mutation_p.D211N|MPDZ_uc011lmm.1_Missense_Mutation_p.D248N|MPDZ_uc003zkz.3_Missense_Mutation_p.D82N|MPDZ_uc010mhy.2_Missense_Mutation_p.D1389N|MPDZ_uc010mhz.2_Missense_Mutation_p.D1356N|MPDZ_uc011lmn.1_Missense_Mutation_p.D1356N|MPDZ_uc003zlb.3_Missense_Mutation_p.D1389N NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 1389 PDZ 8. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding ovary(5)|central_nervous_system(1) 6 GBM - Glioblastoma multiforme(50;2.03e-06) AATCGACCATCTTTTCCTGCA 0.408 NaN 0 0 0 0.144211 0 31 19 MPDZ 8777 broad.mit.edu 37 9 13137996 13137996 + Missense_Mutation SNP C C T TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr9:13137996C>T uc010mia.1 - 28 4217 c.4160G>A c.(4159-4161)GGA>GAA p.G1387E MPDZ_uc003zky.3_5'Flank|MPDZ_uc010mib.2_Missense_Mutation_p.G92E|MPDZ_uc010mhx.2_Missense_Mutation_p.G209E|MPDZ_uc011lmm.1_Missense_Mutation_p.G246E|MPDZ_uc003zkz.3_Missense_Mutation_p.G80E|MPDZ_uc010mhy.2_Missense_Mutation_p.G1387E|MPDZ_uc010mhz.2_Missense_Mutation_p.G1354E|MPDZ_uc011lmn.1_Missense_Mutation_p.G1354E|MPDZ_uc003zlb.3_Missense_Mutation_p.G1387E NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 1387 PDZ 8. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding ovary(5)|central_nervous_system(1) 6 GBM - Glioblastoma multiforme(50;2.03e-06) ACCATCTTTTCCTGCAGCTCC 0.408 NaN 0 0 0 0.116897 0 30 21 IFNA14 3448 broad.mit.edu 37 9 21239749 21239749 + Silent SNP G G T TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr9:21239749G>T uc010mis.2 - 1 230 c.186C>A c.(184-186)CCC>CCA p.P62P IFNA14_uc003zoo.1_RNA NM_002172 NP_002163 P01570 IFN14_HUMAN interferon, alpha 14 precursor 62 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding 0 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) ATTCCTCCTGGGGAAATTCAA 0.473 NaN 1 0 3.07184e-27 0.139131 3.42543e-27 67 173 RUSC2 9853 broad.mit.edu 37 9 35560350 35560350 + Missense_Mutation SNP G G A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr9:35560350G>A uc003zww.2 + 10 3968 c.3713G>A c.(3712-3714)GGA>GAA p.G1238E RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.G1238E NM_014806 NP_055621 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 1238 cytosol ovary(1) 1 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) TCagaaggtggagaagaggaa 0.557 NaN 0 0 0 0.058154 0 9 18 SMC2 10592 broad.mit.edu 37 9 106880491 106880491 + Missense_Mutation SNP G G A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr9:106880491G>A uc004bbv.2 + 15 2119 c.1831G>A c.(1831-1833)GAA>AAA p.E611K SMC2_uc004bbu.1_Missense_Mutation_p.E611K|SMC2_uc004bbw.2_Missense_Mutation_p.E611K|SMC2_uc011lvl.1_Missense_Mutation_p.E611K|SMC2_uc004bbx.2_Missense_Mutation_p.E611K NM_001042551 NP_001036016 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 611 Flexible hinge. cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1) 9 TTCCTTGGTTGAATATAAACC 0.388 NaN 0 0 0 0.131918 0 43 6 C9orf5 23731 broad.mit.edu 37 9 111853251 111853251 + Missense_Mutation SNP C C A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr9:111853251C>A uc004bdt.3 - 5 1133 c.1101G>T c.(1099-1101)CAG>CAT p.Q367H C9orf5_uc004bds.3_RNA|C9orf5_uc004bdr.3_Missense_Mutation_p.Q367H NM_032012 NP_114401 Q9H330 CI005_HUMAN hypothetical protein LOC23731 367 Helical; (Potential). integral to membrane central_nervous_system(1) 1 Myeloproliferative disorder(63;0.204) OV - Ovarian serous cystadenocarcinoma(323;3.08e-05)|STAD - Stomach adenocarcinoma(157;0.0823) TCAACCAGATCTGCATGACGA 0.443 NaN 1 0 7.26314e-15 0.125774 7.81796e-15 27 7 CSF2RA 1438 broad.mit.edu 37 X 1409371 1409371 + Silent SNP C C T TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chrX:1409371C>T uc010nct.2 + 8 937 c.615C>T c.(613-615)TTC>TTT p.F205F CSF2RA_uc011mhb.1_Silent_p.F205F|CSF2RA_uc004cpq.2_Silent_p.F205F|CSF2RA_uc004cpn.2_Silent_p.F205F|CSF2RA_uc004cpo.2_Silent_p.F205F|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_Silent_p.F72F|CSF2RA_uc004cpp.2_Silent_p.F205F|CSF2RA_uc010ncv.2_Silent_p.F205F|CSF2RA_uc004cpr.2_Silent_p.F205F NM_001161529 NP_001155001 P15509 CSF2R_HUMAN colony stimulating factor 2 receptor alpha chain 205 Extracellular (Potential). extracellular region|integral to plasma membrane cytokine receptor activity ovary(2) 2 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) GCATCCAATTCTTTGATTCAC 0.383 NaN 0 0 0 0.139131 0 129 179 NHS 4810 broad.mit.edu 37 X 17744787 17744787 + Missense_Mutation SNP G G A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chrX:17744787G>A uc004cxx.2 + 6 2836 c.2498G>A c.(2497-2499)CGT>CAT p.R833H NHS_uc011mix.1_Missense_Mutation_p.R854H|NHS_uc004cxy.2_Missense_Mutation_p.R677H|NHS_uc004cxz.2_Missense_Mutation_p.R656H|NHS_uc004cya.2_Missense_Mutation_p.R556H NM_198270 NP_938011 Q6T4R5 NHS_HUMAN Nance-Horan syndrome protein isoform 1 833 nucleus skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 Hepatocellular(33;0.183) CCACCTAAACGTAGCTCATCA 0.488 NaN 0 0 0 0.139131 0 89 7 CCNB3 85417 broad.mit.edu 37 X 50089666 50089666 + Missense_Mutation SNP C C T TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chrX:50089666C>T uc004dox.3 + 10 3968 c.3670C>T c.(3670-3672)CGT>TGT p.R1224C CCNB3_uc004doy.2_Missense_Mutation_p.R1224C|CCNB3_uc004doz.2_Missense_Mutation_p.R120C|CCNB3_uc010njq.2_Missense_Mutation_p.R116C|CCNB3_uc004dpa.2_Missense_Mutation_p.R63C NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 1224 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) CAACTCACCTCGTGTGGATGA 0.463 NaN 0 0 0 0.139131 0 44 3 SLC16A2 6567 broad.mit.edu 37 X 73751256 73751256 + Silent SNP C C T TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chrX:73751256C>T uc004ebt.2 + 6 1876 c.1710C>T c.(1708-1710)TTC>TTT p.F570F SLC16A2_uc010nlr.1_3'UTR NM_006517 NP_006508 P36021 MOT8_HUMAN solute carrier family 16, member 2 496 Helical; (Potential). integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity breast(2)|ovary(1) 3 Pyruvic acid(DB00119) TCCTCTTCTTCGTCCCTCTGA 0.532 NaN 0 0 0 0.139131 0 51 6 FLNA 2316 broad.mit.edu 37 X 153593318 153593318 + Missense_Mutation SNP C C T TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chrX:153593318C>T uc004fkk.2 - 12 1948 c.1699G>A c.(1699-1701)GAA>AAA p.E567K FLNA_uc010nuu.1_Missense_Mutation_p.E567K NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 567 Filamin 3. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ACCTTCACTTCGAAGGGACTG 0.632 NaN 0 0 0 0.268233 0 42 42 PARD3 56288 broad.mit.edu 37 10 34630676 34630689 + Frame_Shift_Del DEL ACCTGTCATCTTCT ACCTGTCATCTTCT - TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr10:34630676_34630689delACCTGTCATCTTCT uc010qej.1 - 16 2283_2296 c.2283_2296delAGAAGATGACAGGT c.(2281-2298)ATAGAAGATGACAGGTTGfs p.I761fs PARD3_uc010qek.1_Frame_Shift_Del_p.I758fs|PARD3_uc010qel.1_Frame_Shift_Del_p.I761fs|PARD3_uc010qem.1_Frame_Shift_Del_p.I745fs|PARD3_uc010qen.1_Frame_Shift_Del_p.I745fs|PARD3_uc010qeo.1_Frame_Shift_Del_p.I745fs|PARD3_uc010qep.1_Frame_Shift_Del_p.I701fs|PARD3_uc010qeq.1_Frame_Shift_Del_p.I701fs|PARD3_uc001ixo.1_Frame_Shift_Del_p.I475fs|PARD3_uc001ixp.1_Frame_Shift_Del_p.I623fs|PARD3_uc001ixq.1_Frame_Shift_Del_p.I745fs|PARD3_uc001ixr.1_Frame_Shift_Del_p.I758fs|PARD3_uc001ixt.1_Frame_Shift_Del_p.I579fs|PARD3_uc001ixu.1_Frame_Shift_Del_p.I704fs|PARD3_uc001ixs.1_Frame_Shift_Del_p.I414fs NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN partitioning-defective protein 3 homolog 761_766 Interacts with PRKCZ (By similarity). activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding ovary(1) 1 Breast(68;0.0707) AGCACTGGCAACCTGTCATCTTCTATAATGACAG 0.481 NaN NaN NaN NaN NaN NaN 32 83 --- --- LRDD 55367 broad.mit.edu 37 11 800588 800596 + In_Frame_Del DEL CGCCCTCGA CGCCCTCGA - rs151136652 TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr11:800588_800596delCGCCCTCGA uc001lro.1 - 12 2130_2138 c.1988_1996delTCGAGGGCG c.(1987-1998)TTCGAGGGCGAA>TAA p.663_666FEGE>* SLC25A22_uc009yci.2_5'Flank|SLC25A22_uc001lrj.2_5'Flank|LRDD_uc009yck.1_RNA|LRDD_uc001lrk.1_In_Frame_Del_p.663_666FEGE>*|LRDD_uc001lrl.1_In_Frame_Del_p.506_509FEGE>*|LRDD_uc001lrm.1_In_Frame_Del_p.350_353FEGE>*|LRDD_uc001lrn.1_In_Frame_Del_p.506_509FEGE>*|LRDD_uc001lrp.1_In_Frame_Del_p.325_328FEGE>* NM_145886 NP_665893 Q9HB75 PIDD_HUMAN leucine rich repeat and death domain containing 663_666 apoptosis|signal transduction cytoplasm|nucleus death receptor binding 0 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) AAGAACTCTTCGCCCTCGAACATCTCCAC 0.684 NaN NaN NaN NaN NaN NaN 13 19 --- --- GSPT1 2935 broad.mit.edu 37 16 12009530 12009531 + In_Frame_Ins INS - - CCG rs71408216 TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr16:12009530_12009531insCCG uc002dbt.2 - 1 295_296 c.47_48insCGG c.(46-48)GGG>GGCGGG p.16_16G>GG GSPT1_uc002dbu.2_In_Frame_Ins_p.16_16G>GG|GSPT1_uc010bux.2_Intron NM_002094 NP_002085 P15170 ERF3A_HUMAN G1 to S phase transition 1 isoform 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation intracellular GTP binding|GTPase activity|protein binding|translation release factor activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 cgctgctgctcccgccgccgcc 0.332 NaN NaN NaN NaN NaN NaN 5 2 --- --- CYP7A1 1581 broad.mit.edu 37 8 59410812 59410812 + Frame_Shift_Del DEL T T - TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9be99ef-b43e-44f0-ace3-bac74f676897 fd78ed12-ff64-42ef-8f68-d13b2f707f73 g.chr8:59410812delT uc003xtm.3 - 2 360 c.297delA c.(295-297)AAAfs p.K99fs NM_000780 NP_000771 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, 99 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding ovary(1) 1 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) CAAAGTGAAATTTTTTCCAAT 0.323 NaN Neonatal_Giant_Cell_Hepatitis NaN NaN NaN NaN NaN 29 133 --- ---