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 t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut RER1 11079 broad.mit.edu 37 1 2330854 2330854 + Missense_Mutation SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:2330854G>A uc001aje.1 + 4 378 c.187G>A c.(187-189)GGT>AGT p.G63S RER1_uc001ajf.1_Missense_Mutation_p.G63S NM_007033 NP_008964 O15258 RER1_HUMAN RER1 retention in endoplasmic reticulum 1 63 Helical; (Potential). retrograde vesicle-mediated transport, Golgi to ER integral to Golgi membrane 0 all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204) TCTCTTTCAGGGTTGGTACAT 0.463 NA 9 93 0 0 0 0 C1orf63 57035 broad.mit.edu 37 1 25573139 25573139 + Missense_Mutation SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:25573139G>A uc001bjw.2 - 2 568 c.316C>T c.(316-318)CGG>TGG p.R106W NM_020317 NP_064713 Q9BUV0 CA063_HUMAN hypothetical protein LOC57035 106 Arg-rich. pancreas(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GAAGGAGACCGGTAGTATCTC 0.672 NA 8 67 0 0 0 0 TMEM57 55219 broad.mit.edu 37 1 25810763 25810763 + Missense_Mutation SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:25810763C>A uc001bkk.2 + 7 1513 c.1311C>A c.(1309-1311)AAC>AAA p.N437K TMEM57_uc009vru.2_Missense_Mutation_p.N210K|TMEM57_uc009vrv.2_Missense_Mutation_p.N79K NM_018202 NP_060672 Q8N5G2 MACOI_HUMAN transmembrane protein 57 437 axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part 0 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201) UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649) TGCTGCAGAACAAGTACGTGC 0.572 NA 17 51 2.49e-13 3.08e-13 1 0 ZNHIT6 54680 broad.mit.edu 37 1 86146537 86146537 + Missense_Mutation SNP G G T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:86146537G>T uc001dlh.2 - 6 1204 c.1070C>A c.(1069-1071)GCT>GAT p.A357D ZNHIT6_uc010osc.1_Missense_Mutation_p.A318D NM_017953 NP_060423 Q9NWK9 BCD1_HUMAN zinc finger, HIT type 6 357 box C/D snoRNP assembly|ribosome biogenesis pre-snoRNP complex identical protein binding|metal ion binding large_intestine(1) 1 TATGTACTCAGCTTGACTTTG 0.308 NA 5 19 0.00116845 0.00127074 1 0 COL11A1 1301 broad.mit.edu 37 1 103364525 103364525 + Missense_Mutation SNP T T C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:103364525T>C uc001dul.2 - 55 4430 c.4112A>G c.(4111-4113)GAG>GGG p.E1371G COL11A1_uc001duk.2_Missense_Mutation_p.E567G|COL11A1_uc001dum.2_Missense_Mutation_p.E1383G|COL11A1_uc001dun.2_Missense_Mutation_p.E1332G|COL11A1_uc009weh.2_Missense_Mutation_p.E1255G NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1371 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TTGTCTTCCCTCTGCACCTGC 0.269 NA 7 10 0 0 0 0 BCL9 607 broad.mit.edu 37 1 147091476 147091476 + Silent SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:147091476C>T uc001epq.2 + 8 2255 c.1515C>T c.(1513-1515)CAC>CAT p.H505H BCL9_uc010ozr.1_Silent_p.H431H NM_004326 NP_004317 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 505 Pro-rich. Wnt receptor signaling pathway nucleus protein binding ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.115) TCCATCAGCACGGGCCTCGGG 0.567 NA T IGH@|IGL@ B-ALL 41 100 0 0 0 0 KPRP 448834 broad.mit.edu 37 1 152732519 152732519 + Missense_Mutation SNP A A T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:152732519A>T uc001fal.1 + 2 513 c.455A>T c.(454-456)AAC>ATC p.N152I NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 152 Gln-rich. cytoplasm ovary(4)|pancreas(1) 5 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCAGTCCAGAACTATGTACCC 0.502 NA 48 107 0 0 0 0 INTS3 65123 broad.mit.edu 37 1 153745728 153745728 + Silent SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:153745728G>A uc009wom.2 + 31 3332 c.3111G>A c.(3109-3111)GTG>GTA p.V1037V INTS3_uc001fct.2_Silent_p.V1037V|INTS3_uc001fcu.2_Silent_p.V729V|INTS3_uc001fcv.2_Silent_p.V831V|INTS3_uc010peb.1_Silent_p.V897V|INTS3_uc001fcw.2_Silent_p.V550V|INTS3_uc010pec.1_Silent_p.V550V|INTS3_uc001fcy.2_Silent_p.V400V|INTS3_uc001fcx.2_Silent_p.V334V NM_023015 NP_075391 Q68E01 INT3_HUMAN integrator complex subunit 3 1038 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding ovary(2)|upper_aerodigestive_tract(1) 3 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CCTCTGCAGTGGGCTCTGACA 0.552 NA 42 74 0 0 0 0 ATP8B2 57198 broad.mit.edu 37 1 154316484 154316484 + Missense_Mutation SNP G G T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:154316484G>T uc001fex.2 + 18 1973 c.1973G>T c.(1972-1974)CGG>CTG p.R658L NM_020452 NP_065185 P98198 AT8B2_HUMAN ATPase, class I, type 8B, member 2 isoform a 644 Cytoplasmic (Potential). ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(1)|skin(1) 2 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CAGGACAGCCGGGAGGACAGG 0.632 NA 17 32 4.76e-15 5.98e-15 1 0 KIAA0907 22889 broad.mit.edu 37 1 155895555 155895555 + Missense_Mutation SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:155895555C>A uc001fmi.1 - 7 785 c.761G>T c.(760-762)GGT>GTT p.G254V KIAA0907_uc001fmj.1_Missense_Mutation_p.G254V|KIAA0907_uc009wrk.1_Intron|KIAA0907_uc009wrl.1_RNA|KIAA0907_uc001fml.1_Missense_Mutation_p.G254V|KIAA0907_uc001fmm.2_3'UTR NM_014949 NP_055764 Q7Z7F0 K0907_HUMAN hypothetical protein LOC22889 254 0 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) GCAGCCTGGACCTTCCACCTT 0.458 NA 18 44 2.94e-08 3.53e-08 1 0 RHBG 57127 broad.mit.edu 37 1 156348086 156348086 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:156348086C>T uc010pho.1 + 4 607 c.569C>T c.(568-570)GCC>GTC p.A190V RHBG_uc010phm.1_Intron|RHBG_uc010phn.1_RNA|RHBG_uc001fos.2_Missense_Mutation_p.A121V|RHBG_uc009wrz.2_Missense_Mutation_p.A158V|RHBG_uc001for.2_Missense_Mutation_p.A160V NM_020407 NP_065140 Q9H310 RHBG_HUMAN Rhesus blood group, B glycoprotein 190 Helical; (Potential). transepithelial ammonium transport anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding ovary(2) 2 Hepatocellular(266;0.158) ACCTTTGGTGCCTACTTCGGG 0.642 NA 7 161 0 0 0 0 F11R 50848 broad.mit.edu 37 1 160969992 160969992 + Missense_Mutation SNP T T A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:160969992T>A uc009wtt.2 - 5 805 c.535A>T c.(535-537)AGC>TGC p.S179C F11R_uc010pjv.1_Missense_Mutation_p.S130C|F11R_uc001fxe.3_Missense_Mutation_p.S179C|F11R_uc009wtu.2_Missense_Mutation_p.S179C|F11R_uc010pjw.1_Missense_Mutation_p.S183C|F11R_uc001fxf.3_Missense_Mutation_p.S179C NM_016946 NP_058642 Q9Y624 JAM1_HUMAN F11 receptor precursor 179 Ig-like V-type 2.|Extracellular (Potential). blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly integral to membrane|tight junction ovary(2) 2 all_cancers(52;6.73e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00207) GCACGGGTGCTTTTGGGATTC 0.512 NA 45 62 0 0 0 0 TMCO1 54499 broad.mit.edu 37 1 165737484 165737484 + Silent SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:165737484G>A uc001gdj.3 - 2 242 c.93C>T c.(91-93)TAC>TAT p.Y31Y TMCO1_uc001gdl.3_Intron|TMCO1_uc001gdm.3_5'UTR|TMCO1_uc001gdk.3_Silent_p.Y19Y|TMCO1_uc001gdn.3_RNA|uc001gdo.2_5'Flank NM_019026 NP_061899 Q9UM00 TMCO1_HUMAN transmembrane and coiled-coil domains 1 31 endoplasmic reticulum membrane|Golgi membrane|integral to membrane central_nervous_system(1) 1 all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155) TGTCTGTCCTGTAAACCAGGA 0.373 NA 12 19 0 0 0 0 ILDR2 387597 broad.mit.edu 37 1 166892037 166892037 + Missense_Mutation SNP G G C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:166892037G>C uc001gdx.1 - 8 1060 c.1004C>G c.(1003-1005)ACC>AGC p.T335S NM_199351 NP_955383 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 335 Cytoplasmic (Potential). integral to membrane ovary(1) 1 TTCTGAGATGGTGTTGTTATC 0.478 NA 32 72 0 0 0 0 ADCY10 55811 broad.mit.edu 37 1 167868789 167868789 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:167868789C>T uc001ger.2 - 6 812 c.514G>A c.(514-516)GTG>ATG p.V172M ADCY10_uc009wvk.2_Missense_Mutation_p.V80M|ADCY10_uc010plj.1_Missense_Mutation_p.V19M|ADCY10_uc009wvl.2_Missense_Mutation_p.V171M|ADCY10_uc009wvm.2_RNA NM_018417 NP_060887 Q96PN6 ADCYA_HUMAN adenylate cyclase 10 172 Guanylate cyclase 1. intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding central_nervous_system(2)|ovary(1) 3 ACATCGTCCACTGCCTGACCA 0.507 NA 17 36 0 0 0 0 GLT25D2 23127 broad.mit.edu 37 1 183923934 183923934 + Missense_Mutation SNP C C G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:183923934C>G uc001gqr.2 - 7 1363 c.991G>C c.(991-993)GTT>CTT p.V331L GLT25D2_uc010poj.1_Missense_Mutation_p.V331L|GLT25D2_uc001gqq.2_Missense_Mutation_p.V68L|GLT25D2_uc001gqs.2_Missense_Mutation_p.V211L NM_015101 NP_055916 Q8IYK4 GT252_HUMAN glycosyltransferase 25 domain containing 2 331 lipopolysaccharide biosynthetic process endoplasmic reticulum lumen procollagen galactosyltransferase activity ovary(1)|breast(1) 2 TTAGGGACAACTGAGACATAC 0.448 NA 24 30 0 0 0 0 PTGS2 5743 broad.mit.edu 37 1 186645174 186645174 + Nonsense_Mutation SNP A A C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:186645174A>C uc001gsb.2 - 8 1250 c.1113T>G c.(1111-1113)TAT>TAG p.Y371* PTGS2_uc009wyo.2_Nonsense_Mutation_p.Y218* NM_000963 NP_000954 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 precursor 371 For cyclooxygenase activity (By similarity). cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity ovary(1)|central_nervous_system(1) 2 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580) GATGCCAGTGATAGAGGGTGT 0.383 NA 42 57 0 0 0 0 CFH 3075 broad.mit.edu 37 1 196648779 196648779 + Missense_Mutation SNP A A G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:196648779A>G uc001gtj.3 + 6 886 c.646A>G c.(646-648)ATA>GTA p.I216V CFH_uc001gti.3_Missense_Mutation_p.I216V|CFH_uc009wyw.2_Missense_Mutation_p.I216V|CFH_uc009wyx.2_Missense_Mutation_p.I152V NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 216 Sushi 4. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 CCCAGATGTTATAAATGGATC 0.299 NA 6 17 0 0 0 0 KIF21B 23046 broad.mit.edu 37 1 200978555 200978555 + Missense_Mutation SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:200978555G>A uc001gvs.1 - 2 420 c.103C>T c.(103-105)CCG>TCG p.P35S KIF21B_uc001gvr.1_Missense_Mutation_p.P35S|KIF21B_uc009wzl.1_Missense_Mutation_p.P35S|KIF21B_uc010ppn.1_Missense_Mutation_p.P35S NM_017596 NP_060066 O75037 KI21B_HUMAN kinesin family member 21B 35 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3)|skin(3) 6 GGCTCTCCCGGGGTAACAGAG 0.577 NA 4 78 0 0 0 0 ADORA1 134 broad.mit.edu 37 1 203134630 203134630 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:203134630C>T uc001gze.1 + 4 1016 c.583C>T c.(583-585)CTC>TTC p.L195F FMOD_uc010pqi.1_Intron|ADORA1_uc001gzf.1_Missense_Mutation_p.L195F|ADORA1_uc010pqg.1_Missense_Mutation_p.L127F|ADORA1_uc009xak.1_Missense_Mutation_p.P120L|ADORA1_uc010pqh.1_Missense_Mutation_p.L228F NM_000674 NP_000665 P30542 AA1R_HUMAN adenosine A1 receptor 195 Helical; Name=5; (Potential). induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis integral to plasma membrane large_intestine(1) 1 Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277) CCCGCTTCTCCTCATGGTCCT 0.552 NA 23 76 0 0 0 0 PCNXL2 80003 broad.mit.edu 37 1 233397851 233397851 + Silent SNP A A G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:233397851A>G uc001hvl.2 - 3 655 c.420T>C c.(418-420)CCT>CCC p.P140P PCNXL2_uc009xfu.2_5'Flank|PCNXL2_uc009xfv.1_5'Flank NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 140 integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) AGCGGAGGGGAGGCGTGGAGA 0.488 NA 3 137 0 0 0 0 RGS7 6000 broad.mit.edu 37 1 241032090 241032090 + Silent SNP T T A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:241032090T>A uc001hyv.2 - 8 843 c.513A>T c.(511-513)GCA>GCT p.A171A RGS7_uc010pyh.1_Silent_p.A145A|RGS7_uc010pyj.1_Silent_p.A87A|RGS7_uc001hyu.2_Silent_p.A171A|RGS7_uc009xgn.1_Silent_p.A118A|RGS7_uc001hyw.2_Silent_p.A171A|RGS7_uc001hyt.2_Silent_p.A3A NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 171 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity ovary(4)|skin(2)|kidney(1) 7 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) CTTGTGCTTCTGCTTGCATGA 0.448 NA 12 145 0 0 0 0 GATA3 2625 broad.mit.edu 37 10 8097767 8097767 + Missense_Mutation SNP T T A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr10:8097767T>A uc001ika.2 + 2 706 c.149T>A c.(148-150)CTT>CAT p.L50H FLJ45983_uc010qbe.1_5'Flank|FLJ45983_uc001ijx.1_5'Flank|FLJ45983_uc010qbf.1_5'Flank|FLJ45983_uc010qbg.1_5'Flank|FLJ45983_uc001ijy.1_5'Flank|GATA3_uc001ijz.2_Missense_Mutation_p.L50H NM_002051 NP_002042 P23771 GATA3_HUMAN GATA binding protein 3 isoform 2 50 aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding breast(17)|ovary(3)|central_nervous_system(2) 22 GTGGATGTGCTTTTTAACATC 0.657 NA F|N|S breast HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE) 6 3 0 0 0 0 ERCC6 2074 broad.mit.edu 37 10 50678456 50678456 + Missense_Mutation SNP T T C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr10:50678456T>C uc001jhs.3 - 18 3704 c.3550A>G c.(3550-3552)AAA>GAA p.K1184E ERCC6_uc009xod.2_Missense_Mutation_p.K344E|ERCC6_uc010qgr.1_Missense_Mutation_p.K554E|ERCC6_uc001jhr.3_Missense_Mutation_p.K552E NM_000124 NP_000115 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent 1184 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1) 16 TGTTTTGTTTTTGACTTGTGC 0.388 NA Direct_reversal_of_damage|NER 68 100 0 0 0 0 MYST4 23522 broad.mit.edu 37 10 76789017 76789017 + Missense_Mutation SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr10:76789017G>A uc001jwn.1 + 18 4928 c.4435G>A c.(4435-4437)GTC>ATC p.V1479I MYST4_uc001jwo.1_Missense_Mutation_p.V1187I|MYST4_uc001jwp.1_Missense_Mutation_p.V1296I NM_012330 NP_036462 Q8WYB5 MYST4_HUMAN MYST histone acetyltransferase (monocytic 1479 histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1) 16 all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964) GGACTGTGGCGTCGACCTGAC 0.527 NA T CREBBP AML 16 36 0 0 0 0 PLCE1 51196 broad.mit.edu 37 10 95931086 95931086 + Missense_Mutation SNP C C G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr10:95931086C>G uc001kjk.2 + 4 2276 c.1642C>G c.(1642-1644)CGC>GGC p.R548G PLCE1_uc010qnx.1_Missense_Mutation_p.R548G|PLCE1_uc001kjm.2_Missense_Mutation_p.R240G NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 548 Ras-GEF. activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) GACTATTTACCGCAGGGTCTT 0.547 NA 57 121 0 0 0 0 SEC31B 25956 broad.mit.edu 37 10 102247816 102247816 + Nonsense_Mutation SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr10:102247816C>A uc001krc.1 - 25 3430 c.3328G>T c.(3328-3330)GAG>TAG p.E1110* SEC31B_uc010qpo.1_Nonsense_Mutation_p.E1109*|SEC31B_uc001krd.1_Nonsense_Mutation_p.E647*|SEC31B_uc001krf.1_Nonsense_Mutation_p.E543*|SEC31B_uc001kre.1_Nonsense_Mutation_p.E541* NM_015490 NP_056305 Q9NQW1 SC31B_HUMAN SEC31 homolog B 1110 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane ovary(1) 1 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) TATAGATACTCCAGACGCTGG 0.527 NA 11 21 6.4e-05 7.19e-05 1 0 ZDHHC6 64429 broad.mit.edu 37 10 114194142 114194142 + Missense_Mutation SNP A A T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr10:114194142A>T uc001kzv.2 - 7 1240 c.816T>A c.(814-816)TTT>TTA p.F272L ZDHHC6_uc001kzw.2_Missense_Mutation_p.F268L|ZDHHC6_uc009xya.1_Missense_Mutation_p.F272L NM_022494 NP_071939 Q9H6R6 ZDHC6_HUMAN zinc finger, DHHC-type containing 6 272 integral to membrane acyltransferase activity|zinc ion binding 0 Colorectal(252;0.198) Epithelial(162;0.0291)|all cancers(201;0.117) ATACCTGTTTAAAGTTCCTCC 0.398 NA 5 60 0 0 0 0 HABP2 3026 broad.mit.edu 37 10 115341746 115341746 + Missense_Mutation SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr10:115341746G>A uc001lai.3 + 9 1053 c.950G>A c.(949-951)GGC>GAC p.G317D HABP2_uc010qrz.1_Intron NM_004132 NP_004123 Q14520 HABP2_HUMAN hyaluronan binding protein 2 preproprotein 317 Peptidase S1. cell adhesion|proteolysis extracellular space glycosaminoglycan binding|serine-type endopeptidase activity ovary(2)|skin(1) 3 Colorectal(252;0.0233)|Breast(234;0.0672) Epithelial(162;0.00319)|all cancers(201;0.0112) ATCTATGGAGGCTTTAAGAGC 0.587 NA 7 97 0 0 0 0 EIF3A 8661 broad.mit.edu 37 10 120802159 120802159 + Missense_Mutation SNP G G T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr10:120802159G>T uc001ldu.2 - 19 3019 c.2873C>A c.(2872-2874)CCC>CAC p.P958H EIF3A_uc010qsu.1_Missense_Mutation_p.P924H|EIF3A_uc009xzg.1_5'UTR NM_003750 NP_003741 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, 958 4.|Asp-rich.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT]. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity 0 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) GCCACGCCGGGGAACCCGATC 0.582 NA 46 118 4.22e-32 5.48e-32 1 0 BAG3 9531 broad.mit.edu 37 10 121436667 121436667 + Missense_Mutation SNP A A G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr10:121436667A>G uc001lem.2 + 4 1907 c.1601A>G c.(1600-1602)AAG>AGG p.K534R BAG3_uc001lel.2_Missense_Mutation_p.K533R NM_004281 NP_004272 O95817 BAG3_HUMAN BCL2-associated athanogene 3 534 anti-apoptosis|apoptosis|protein folding cytosol ovary(2) 2 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148) GCAGCAGACAAGGGCAAGAAA 0.552 NA 23 67 0 0 0 0 MUC5B 727897 broad.mit.edu 37 11 1256320 1256320 + Missense_Mutation SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr11:1256320G>A uc009ycr.1 + 38 4739 c.4613G>A c.(4612-4614)TGC>TAC p.C1538Y MUC5B_uc009yct.1_Missense_Mutation_p.C879Y|MUC5B_uc001ltb.2_Missense_Mutation_p.C882Y|MUC5B_uc001lta.2_Missense_Mutation_p.C547Y NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 879 VWFC 1. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) TGCAGCACCTGCAGGAACCGG 0.677 NA 10 16 0 0 0 0 ILK 3611 broad.mit.edu 37 11 6631495 6631495 + Missense_Mutation SNP G G C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr11:6631495G>C uc001mee.2 + 12 1330 c.1195G>C c.(1195-1197)GAG>CAG p.E399Q ILK_uc001mef.2_Missense_Mutation_p.E399Q|ILK_uc010rap.1_Missense_Mutation_p.E265Q|ILK_uc010raq.1_Missense_Mutation_p.E338Q|ILK_uc001meg.2_Missense_Mutation_p.E245Q|ILK_uc001meh.2_Missense_Mutation_p.E399Q|ILK_uc001mei.2_Missense_Mutation_p.E25Q NM_001014794 NP_001014794 Q13418 ILK_HUMAN integrin-linked kinase 399 Protein kinase. cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent cytosol|focal adhesion ATP binding|protein serine/threonine kinase activity central_nervous_system(1) 1 Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152) Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163) CTCCAATATGGAGATTGGAAT 0.488 NA 24 30 0 0 0 0 MRGPRX2 117194 broad.mit.edu 37 11 19077367 19077367 + Missense_Mutation SNP A A C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr11:19077367A>C uc001mph.2 - 2 671 c.583T>G c.(583-585)TTC>GTC p.F195V NM_054030 NP_473371 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 195 Helical; Name=5; (Potential). sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding ovary(1) 1 AGAACCATGAATAAAAAAATC 0.512 NA 18 13 0 0 0 0 OR5M9 390162 broad.mit.edu 37 11 56230584 56230584 + Missense_Mutation SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr11:56230584C>A uc010rjj.1 - 1 294 c.294G>T c.(292-294)CAG>CAT p.Q98H NM_001004743 NP_001004743 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, 98 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Esophageal squamous(21;0.00448) AAAAGTAGCACTGCACCAAGC 0.488 NA 32 59 9.65e-13 1.19e-12 1 0 SLC22A9 114571 broad.mit.edu 37 11 63137735 63137735 + Missense_Mutation SNP A A T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr11:63137735A>T uc001nww.2 + 1 475 c.207A>T c.(205-207)CAA>CAT p.Q69H SLC22A9_uc001nwx.2_RNA NM_080866 NP_543142 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion/cation 69 Extracellular (Potential). transmembrane transport integral to membrane breast(2)|large_intestine(1) 3 CCCTCAGCCAAGATGCACTCT 0.527 NA 26 102 0 0 0 0 ACY3 91703 broad.mit.edu 37 11 67412541 67412541 + Silent SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr11:67412541C>T uc001omq.2 - 6 780 c.609G>A c.(607-609)CTG>CTA p.L203L NM_080658 NP_542389 Q96HD9 ACY3_HUMAN aspartoacylase 3 203 interspecies interaction between organisms apical plasma membrane|cytoplasm hydrolase activity, acting on ester bonds|metal ion binding 0 L-Aspartic Acid(DB00128) CGATGAAGTCCAGAACTGTGG 0.617 NA 58 116 0 0 0 0 OR8G2 26492 broad.mit.edu 37 11 124096301 124096301 + Missense_Mutation SNP T T A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr11:124096301T>A uc010saf.1 + 1 904 c.904T>A c.(904-906)TCT>ACT p.S302T NM_001007249 NP_001007250 Q15614 OR8G2_HUMAN olfactory receptor, family 8, subfamily G, 302 integral to membrane olfactory receptor activity 0 Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) GAACCCCCAATCTATAGCCTA 0.418 NA 6 112 0 0 0 0 CACNA1C 775 broad.mit.edu 37 12 2760859 2760859 + Silent SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr12:2760859C>A uc009zdu.1 + 34 4456 c.4143C>A c.(4141-4143)GTC>GTA p.V1381V CACNA1C_uc009zdv.1_Silent_p.V1330V|CACNA1C_uc001qkb.2_Silent_p.V1333V|CACNA1C_uc001qkc.2_Silent_p.V1333V|CACNA1C_uc001qke.2_Silent_p.V1322V|CACNA1C_uc001qkf.2_Silent_p.V1322V|CACNA1C_uc001qjz.2_Silent_p.V1333V|CACNA1C_uc001qkd.2_Silent_p.V1333V|CACNA1C_uc001qkg.2_Silent_p.V1320V|CACNA1C_uc009zdw.1_Silent_p.V1355V|CACNA1C_uc001qkh.2_Silent_p.V1322V|CACNA1C_uc001qkl.2_Silent_p.V1381V|CACNA1C_uc001qkn.2_Silent_p.V1333V|CACNA1C_uc001qko.2_Silent_p.V1353V|CACNA1C_uc001qkp.2_Silent_p.V1333V|CACNA1C_uc001qkr.2_Silent_p.V1350V|CACNA1C_uc001qku.2_Silent_p.V1333V|CACNA1C_uc001qkq.2_Silent_p.V1361V|CACNA1C_uc001qks.2_Silent_p.V1333V|CACNA1C_uc001qkt.2_Silent_p.V1333V|CACNA1C_uc001qki.1_Silent_p.V1069V|CACNA1C_uc001qkj.1_Silent_p.V1069V|CACNA1C_uc001qkk.1_Silent_p.V1069V|CACNA1C_uc001qkm.1_Silent_p.V1058V|CACNA1C_uc010sea.1_Silent_p.V24V NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 1381 Helical; Name=S4 of repeat IV; (Potential).|IV. axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TGTTCCGGGTCATGCGTCTGG 0.617 NA 33 57 3.9e-15 4.91e-15 1 0 PRMT8 56341 broad.mit.edu 37 12 3686072 3686072 + Missense_Mutation SNP A A G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr12:3686072A>G uc001qmf.2 + 7 1115 c.748A>G c.(748-750)ATC>GTC p.I250V PRMT8_uc009zed.2_Missense_Mutation_p.I241V|PRMT8_uc009zee.1_RNA|PRMT8_uc001qmg.2_Missense_Mutation_p.I64V NM_019854 NP_062828 Q9NR22 ANM8_HUMAN HMT1 hnRNP methyltransferase-like 4 250 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity p.I250M(1) ovary(3)|central_nervous_system(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) CATGACCTGCATCCGGGACGT 0.572 NA 16 264 0 0 0 0 A2ML1 144568 broad.mit.edu 37 12 9020506 9020506 + Missense_Mutation SNP C C G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr12:9020506C>G uc001quz.3 + 30 3884 c.3786C>G c.(3784-3786)ATC>ATG p.I1262M A2ML1_uc001qva.1_Missense_Mutation_p.I842M|A2ML1_uc010sgm.1_Missense_Mutation_p.I762M|A2ML1_uc001qvb.1_RNA NM_144670 NP_653271 A8K2U0 A2ML1_HUMAN alpha-2-macroglobulin-like 1 precursor 1106 extracellular space endopeptidase inhibitor activity ovary(2)|skin(1) 3 CTGAGGAGATCAACCTGGTTG 0.453 NA 33 44 0 0 0 0 GSG1 83445 broad.mit.edu 37 12 13238169 13238169 + Missense_Mutation SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr12:13238169C>A uc001rbn.2 - 7 928 c.755G>T c.(754-756)TGG>TTG p.W252L GSG1_uc001rbj.2_Missense_Mutation_p.W216L|GSG1_uc001rbk.2_Silent_p.L257L|GSG1_uc001rbl.2_Missense_Mutation_p.W188L|GSG1_uc001rbm.2_Missense_Mutation_p.W165L|GSG1_uc001rbo.2_Silent_p.L293L|GSG1_uc001rbp.2_Missense_Mutation_p.W229L|GSG1_uc001rbq.1_Silent_p.L293L NM_001080555 NP_001074024 Q2KHT4 GSG1_HUMAN germ cell associated 1 isoform 4 239 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane 0 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) GAAGGAGAGCCAGGCCATGCT 0.483 NA 13 35 2.27e-07 2.68e-07 1 0 LASS5 91012 broad.mit.edu 37 12 50535844 50535844 + Missense_Mutation SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr12:50535844G>A uc001rwd.3 - 4 501 c.484C>T c.(484-486)CTC>TTC p.L162F LASS5_uc001rwc.2_Missense_Mutation_p.L81F|LASS5_uc001rwe.3_Missense_Mutation_p.L103F|LASS5_uc001rwf.3_Intron|LASS5_uc010smq.1_Missense_Mutation_p.L18F NM_147190 NP_671723 Q8N5B7 CERS5_HUMAN LAG1 homolog, ceramide synthase 5 162 TLC.|Helical; (Potential). ceramide biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity 0 ACCGACCAGAGAAATCTAATT 0.363 NA 11 15 0 0 0 0 POU6F1 5463 broad.mit.edu 37 12 51590624 51590624 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr12:51590624C>T uc001rxy.2 - 1 195 c.3G>A c.(1-3)ATG>ATA p.M1I POU6F1_uc001rxz.2_Missense_Mutation_p.M1I|POU6F1_uc001rya.2_Missense_Mutation_p.M1I NM_002702 NP_002693 Q14863 PO6F1_HUMAN POU class 6 homeobox 1 1 Gln/Pro-rich. brain development|heart development|muscle organ development nucleus sequence-specific DNA binding transcription factor activity ovary(1) 1 TGATCCCTGGCATGCTGGGAA 0.612 NA 6 84 0 0 0 0 MAP3K12 7786 broad.mit.edu 37 12 53878059 53878059 + Silent SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr12:53878059C>T uc001sdm.1 - 8 1229 c.1131G>A c.(1129-1131)GAG>GAA p.E377E MAP3K12_uc001sdn.1_Silent_p.E410E NM_006301 NP_006292 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 377 histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding lung(2)|ovary(1)|breast(1)|skin(1) 5 TAAAGTAAGTCTCCTGGGGTG 0.488 NA 11 31 0 0 0 0 EEA1 8411 broad.mit.edu 37 12 93196253 93196253 + Missense_Mutation SNP G G C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr12:93196253G>C uc001tck.2 - 19 2862 c.2597C>G c.(2596-2598)TCT>TGT p.S866C NM_003566 NP_003557 Q15075 EEA1_HUMAN early endosome antigen 1, 162kD 866 Potential. early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding ovary(2)|skin(1) 3 CAAAGAATCAGAAACTTTTGA 0.308 NA 8 16 0 0 0 0 GNPTAB 79158 broad.mit.edu 37 12 102155370 102155370 + Missense_Mutation SNP G G C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr12:102155370G>C uc001tit.2 - 14 3066 c.2887C>G c.(2887-2889)CGG>GGG p.R963G NM_024312 NP_077288 Q3T906 GNPTA_HUMAN N-acetylglucosamine-1-phosphate transferase 963 cell differentiation Golgi membrane|integral to membrane|nucleus metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity ovary(1)|skin(1) 2 ATAACAATCCGGTCAATCATG 0.388 NA 24 38 0 0 0 0 SLC41A2 84102 broad.mit.edu 37 12 105282861 105282861 + Missense_Mutation SNP A A T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr12:105282861A>T uc001tla.2 - 4 997 c.830T>A c.(829-831)CTT>CAT p.L277H NM_032148 NP_115524 Q96JW4 S41A2_HUMAN solute carrier family 41, member 2 277 Cytoplasmic. integral to membrane|plasma membrane magnesium ion transmembrane transporter activity ovary(1)|skin(1) 2 AGAGCACAGAAGTATGGAATG 0.398 NA 18 43 0 0 0 0 RNF10 9921 broad.mit.edu 37 12 121013686 121013686 + Silent SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr12:121013686C>T uc001typ.3 + 16 2775 c.2292C>T c.(2290-2292)TCC>TCT p.S764S RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Silent_p.S675S NM_014868 NP_055683 Q8N5U6 RNF10_HUMAN ring finger protein 10 764 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TTCAAAATTCCTTCAGCCAAG 0.478 NA 93 136 0 0 0 0 TMEM120B 144404 broad.mit.edu 37 12 122181639 122181639 + Silent SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr12:122181639G>A uc001ubc.3 + 2 318 c.174G>A c.(172-174)AAG>AAA p.K58K TMEM120B_uc009zxh.2_Silent_p.K58K NM_001080825 NP_001074294 A0PK00 T120B_HUMAN transmembrane protein 120B 58 Potential. integral to membrane 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238) AGGACTTGAAGCTTACACTCC 0.418 NA 32 43 0 0 0 0 SBNO1 55206 broad.mit.edu 37 12 123782584 123782584 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr12:123782584C>T uc010tap.1 - 30 3980 c.3980G>A c.(3979-3981)GGC>GAC p.G1327D SBNO1_uc009zxv.2_RNA|SBNO1_uc010tao.1_Missense_Mutation_p.G1326D|SBNO1_uc010taq.1_Missense_Mutation_p.G278D NM_018183 NP_060653 A3KN83 SBNO1_HUMAN sno, strawberry notch homolog 1 1327 ATP binding|DNA binding|hydrolase activity breast(5)|skin(2)|ovary(1)|kidney(1) 9 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) CACGTTTGTGCCACTGACAGA 0.428 NA 5 108 0 0 0 0 DNAH10 196385 broad.mit.edu 37 12 124377980 124377980 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr12:124377980C>T uc001uft.3 + 52 8867 c.8842C>T c.(8842-8844)CCA>TCA p.P2948S NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2948 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CAGAAACTTCCCAGGTACCCG 0.572 NA 30 55 0 0 0 0 USP12 219333 broad.mit.edu 37 13 27649390 27649390 + Silent SNP T T C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr13:27649390T>C uc001uqy.2 - 7 1123 c.870A>G c.(868-870)TCA>TCG p.S290S NM_182488 NP_872294 O75317 UBP12_HUMAN ubiquitin thiolesterase 12 290 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(1) 1 Lung SC(185;0.0161) all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246) TGGCATCACCTGAAGTGTTAA 0.408 NA 17 48 0 0 0 0 POSTN 10631 broad.mit.edu 37 13 38160349 38160349 + Silent SNP G G T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr13:38160349G>T uc001uwo.3 - 7 940 c.822C>A c.(820-822)CCC>CCA p.P274P POSTN_uc001uwp.3_Silent_p.P274P|POSTN_uc001uwr.2_Silent_p.P274P|POSTN_uc001uwq.2_Silent_p.P274P|POSTN_uc010teu.1_Silent_p.P274P|POSTN_uc010tev.1_Silent_p.P274P|POSTN_uc010tew.1_Silent_p.P274P|POSTN_uc010tex.1_Silent_p.P189P NM_006475 NP_006466 Q15063 POSTN_HUMAN periostin, osteoblast specific factor isoform 1 274 FAS1 2. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding ovary(2) 2 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) CCTCATTGGTGGGAGCAAAGA 0.468 NA 19 54 8.28e-16 1.05e-15 1 0 C13orf23 80209 broad.mit.edu 37 13 39588614 39588614 + Splice_Site SNP C C G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr13:39588614C>G uc001uwy.2 - 11 1649 c.776_splice c.e11-1 p.T259_splice C13orf23_uc001uwz.2_Splice_Site_p.T237_splice NM_025138 NP_079414 Q86XN7 CM023_HUMAN hypothetical protein LOC80209 isoform 1 ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1) 5 Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114) all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146) GTGGAAAATGCTATATGGAAG 0.388 NA 8 23 0 0 0 0 NAA16 79612 broad.mit.edu 37 13 41891057 41891057 + Nonsense_Mutation SNP G G T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr13:41891057G>T uc001uyf.2 + 2 454 c.130G>T c.(130-132)GAA>TAA p.E44* NAA16_uc010tfg.1_RNA|NAA16_uc001uye.3_Nonsense_Mutation_p.E44*|NAA16_uc001uyd.3_Nonsense_Mutation_p.E44* NM_024561 NP_078837 Q6N069 NAA16_HUMAN NMDA receptor regulated 1-like protein isoform 44 N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent cytoplasm|transcription factor complex binding central_nervous_system(1) 1 AAAATTTGCTGAACATGGAGG 0.368 NA 8 18 7.48e-07 8.77e-07 1 0 CDC16 8881 broad.mit.edu 37 13 115002175 115002175 + Splice_Site SNP G G T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr13:115002175G>T uc001vuk.1 + 2 301 c.103_splice c.e2+1 p.E35_splice CDC16_uc010tkm.1_Splice_Site_p.E35_splice|CDC16_uc001vul.1_Splice_Site_p.E35_splice|CDC16_uc001vum.1_Splice_Site|CDC16_uc001vun.1_Splice_Site_p.E35_splice|CDC16_uc001vuo.1_Splice_Site_p.E35_splice NM_003903 NP_003894 Q13042 CDC16_HUMAN anaphase-promoting complex, subunit 6 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule binding 0 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) CTCTCTCGTGGTAAGTGACAA 0.358 NA 21 50 3.88e-16 4.93e-16 1 0 PABPN1 8106 broad.mit.edu 37 14 23777304 23777304 + Missense_Mutation SNP A A C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr14:23777304A>C uc001wjh.3 + 3 516 c.328A>C c.(328-330)AGT>CGT p.S110R BCL2L2_uc001wjg.3_Missense_Mutation_p.S110R|BCL2L2_uc001wji.3_Missense_Mutation_p.S110R NM_004643 NP_004634 Q86U42 PABP2_HUMAN poly(A) binding protein, nuclear 1 Error:Variant_position_missing_in_Q86U42_after_alignment modification by virus of host mRNA processing|mRNA 3'-end processing|muscle contraction|nuclear mRNA splicing, via spliceosome|poly(A)+ mRNA export from nucleus|termination of RNA polymerase II transcription|viral infectious cycle cytoplasm|nucleoplasm|ribonucleoprotein complex nucleotide binding|protein binding|RNA binding ovary(2) 2 all_cancers(95;6.69e-06) GBM - Glioblastoma multiforme(265;0.00643) GTGTGCTGAGAGTGTCAACAA 0.582 NA 39 50 0 0 0 0 NYNRIN 57523 broad.mit.edu 37 14 24880367 24880367 + Missense_Mutation SNP G G T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr14:24880367G>T uc001wpf.3 + 5 2818 c.2500G>T c.(2500-2502)GTG>TTG p.V834L NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN hypothetical protein LOC57523 834 DNA integration integral to membrane DNA binding ovary(2)|central_nervous_system(1) 3 AGAGGTCACTGTGTTTGTACC 0.592 NA OREG0022626 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 53 65 3.77e-38 4.93e-38 1 0 AKAP6 9472 broad.mit.edu 37 14 33015409 33015409 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr14:33015409C>T uc001wrq.2 + 4 1720 c.1550C>T c.(1549-1551)TCA>TTA p.S517L AKAP6_uc010aml.2_Missense_Mutation_p.S514L NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 517 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) GGGACTGGTTCAGGCAAACAA 0.463 NA 29 49 0 0 0 0 FSCB 84075 broad.mit.edu 37 14 44975866 44975866 + Missense_Mutation SNP G G T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr14:44975866G>T uc001wvn.2 - 1 634 c.325C>A c.(325-327)CCA>ACA p.P109T NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 109 cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) ACACTCTCTGGCAATTCAATA 0.418 NA 45 97 2.36e-20 3.03e-20 1 0 C14orf159 80017 broad.mit.edu 37 14 91642340 91642340 + Missense_Mutation SNP G G T rs75931548 byFrequency TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr14:91642340G>T uc001xzb.2 + 9 1423 c.655G>T c.(655-657)GGG>TGG p.G219W C14orf159_uc010atv.1_RNA|C14orf159_uc001xyy.2_Missense_Mutation_p.G224W|C14orf159_uc001xyx.2_Missense_Mutation_p.G207W|C14orf159_uc001xyw.2_Missense_Mutation_p.G224W|C14orf159_uc001xzc.2_Missense_Mutation_p.G219W|C14orf159_uc001xza.2_Missense_Mutation_p.G224W|C14orf159_uc001xyv.2_Missense_Mutation_p.G224W|C14orf159_uc001xyz.2_Missense_Mutation_p.G95W|C14orf159_uc001xze.2_Missense_Mutation_p.G219W NM_001102366 NP_001095836 Q7Z3D6 CN159_HUMAN hypothetical protein LOC80017 isoform a 219 mitochondrion central_nervous_system(2)|ovary(1) 3 all_cancers(154;0.0191)|all_epithelial(191;0.241) Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207) GTGTCCCCCAGGGGAGGTTCC 0.537 NA 26 45 4.43e-23 5.72e-23 1 0 OR4N4 283694 broad.mit.edu 37 15 22383155 22383155 + Missense_Mutation SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr15:22383155C>A uc001yuc.1 + 7 1664 c.683C>A c.(682-684)GCA>GAA p.A228E LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Missense_Mutation_p.A228E NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, 228 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) GTTCGTAGGGCAGCTTCTGAA 0.493 NA 37 324 9.81e-26 1.27e-25 1 0 SPG11 80208 broad.mit.edu 37 15 44941138 44941138 + Missense_Mutation SNP T T A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr15:44941138T>A uc001ztx.2 - 7 1559 c.1528A>T c.(1528-1530)AGT>TGT p.S510C SPG11_uc010ueh.1_Missense_Mutation_p.S510C|SPG11_uc010uei.1_Missense_Mutation_p.S510C|SPG11_uc001zua.1_Missense_Mutation_p.S510C NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN spatacsin isoform 1 510 Extracellular (Potential). cell death cytosol|integral to membrane|nucleus protein binding ovary(4)|skin(1) 5 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) GTGCTGGCACTTCCATGGATC 0.398 NA 14 42 0 0 0 0 LINGO1 84894 broad.mit.edu 37 15 77907870 77907870 + Missense_Mutation SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr15:77907870G>A uc002bct.1 - 2 431 c.379C>T c.(379-381)CGC>TGC p.R127C LINGO1_uc002bcu.1_Missense_Mutation_p.R121C NM_032808 NP_116197 Q96FE5 LIGO1_HUMAN leucine-rich repeat neuronal 6A 127 Extracellular (Potential).|LRR 3. negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane ovary(1)|lung(1) 2 CGGTTGCTGCGGAGACCCAGC 0.602 NA 13 25 0 0 0 0 CHRNA3 1136 broad.mit.edu 37 15 78894291 78894291 + Silent SNP G G T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr15:78894291G>T uc002bec.2 - 5 879 c.693C>A c.(691-693)ATC>ATA p.I231I CHRNA3_uc002bea.2_RNA|CHRNA3_uc002beb.2_Silent_p.I231I NM_000743 NP_000734 P32297 ACHA3_HUMAN cholinergic receptor, nicotinic, alpha 3 231 Extracellular (Potential). activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(3)|ovary(1) 4 GCGAGTATGTGATGTCGGGGT 0.547 NA 22 29 9.96e-16 1.26e-15 1 0 KIAA1199 57214 broad.mit.edu 37 15 81225737 81225737 + Missense_Mutation SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr15:81225737G>A uc002bfw.1 + 22 3205 c.2945G>A c.(2944-2946)CGG>CAG p.R982Q KIAA1199_uc010unn.1_Missense_Mutation_p.R982Q NM_018689 NP_061159 Q8WUJ3 K1199_HUMAN KIAA1199 precursor 982 upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 TGGCTGGTCCGGCACCCAGAC 0.582 NA 29 70 0 0 0 0 TRAP1 10131 broad.mit.edu 37 16 3722789 3722789 + Silent SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr16:3722789C>T uc002cvt.3 - 10 1166 c.1077G>A c.(1075-1077)CTG>CTA p.L359L TRAP1_uc002cvs.2_Silent_p.L150L|TRAP1_uc010uxf.1_Silent_p.L306L NM_016292 NP_057376 Q12931 TRAP1_HUMAN TNF receptor-associated protein 1 precursor 359 cellular response to oxidative stress|protein folding mitochondrion ATP binding|tumor necrosis factor receptor binding|unfolded protein binding central_nervous_system(1) 1 Ovarian(90;0.0261) CGCTGGAGCCCAGCTCCCGGC 0.622 NA 5 12 0 0 0 0 TGFB1I1 7041 broad.mit.edu 37 16 31485728 31485728 + Missense_Mutation SNP G G T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr16:31485728G>T uc002ecd.1 + 6 497 c.471G>T c.(469-471)GAG>GAT p.E157D TGFB1I1_uc002ece.1_Missense_Mutation_p.E140D|TGFB1I1_uc010caq.1_5'UTR NM_001042454 NP_001035919 O43294 TGFI1_HUMAN transforming growth factor beta 1 induced 157 Transcription activation (By similarity).|LD motif 3.|Interaction with PTK2B. androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway cytoplasm|cytoskeleton|focal adhesion|nuclear matrix androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding 0 CCACTCTGGAGCTGGATAGAC 0.572 NA 14 81 2.32e-09 2.81e-09 1 0 CNGB1 1258 broad.mit.edu 37 16 57994742 57994742 + Splice_Site SNP A A G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr16:57994742A>G uc002emt.2 - 8 599 c.534_splice c.e8+1 p.E178_splice CNGB1_uc010cdh.2_Splice_Site_p.E178_splice|CNGB1_uc002emu.2_Splice_Site_p.E178_splice NM_001297 NP_001288 Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 isoform sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3)|pancreas(1) 4 TCCTTGGCTCACCTCAGAGGA 0.642 NA 14 30 0 0 0 0 CNOT1 23019 broad.mit.edu 37 16 58572083 58572083 + Silent SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr16:58572083C>T uc002env.2 - 37 5516 c.5223G>A c.(5221-5223)CAG>CAA p.Q1741Q CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Silent_p.Q1736Q|CNOT1_uc010vik.1_Silent_p.Q698Q NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 1741 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) GAAGATCATACTGCTGCATAT 0.403 NA 7 23 0 0 0 0 CDH11 1009 broad.mit.edu 37 16 65038544 65038544 + Splice_Site SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr16:65038544C>A uc002eoi.2 - 3 662 c.228_splice c.e3+1 p.R76_splice CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Splice_Site_p.R76_splice|CDH11_uc010vin.1_Intron|CDH11_uc010vio.1_Splice_Site_p.R76_splice NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) GGCAGCCTTACCCTGCCCACA 0.572 NA T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 17 16 9.77e-05 0.000108959 1 0 CTCF 10664 broad.mit.edu 37 16 67650762 67650762 + Missense_Mutation SNP G G T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr16:67650762G>T uc002etl.2 + 5 1357 c.1067G>T c.(1066-1068)TGC>TTC p.C356F CTCF_uc010cek.2_Missense_Mutation_p.C28F NM_006565 NP_006556 P49711 CTCF_HUMAN CCCTC-binding factor 356 C2H2-type 4. chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) TGTTCCATGTGCGATTACGCC 0.448 NA 80 130 1.07e-64 1.41e-64 1 0 ESRP2 80004 broad.mit.edu 37 16 68265188 68265188 + Missense_Mutation SNP T T A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr16:68265188T>A uc010cfa.1 - 12 1822 c.1634A>T c.(1633-1635)GAG>GTG p.E545V ESRP2_uc002evp.1_Intron|ESRP2_uc002evq.1_Missense_Mutation_p.E535V NM_024939 NP_079215 Q9H6T0 ESRP2_HUMAN RNA binding motif protein 35B 545 RRM 3. mRNA processing|regulation of RNA splicing|RNA splicing nucleus mRNA binding|nucleotide binding ovary(1) 1 CACGTAGCGCTCCTTCATCAC 0.617 NA 21 39 0 0 0 0 OVCA2 124641 broad.mit.edu 37 17 1945365 1945365 + Silent SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr17:1945365G>A uc002ftx.2 + 1 89 c.24G>A c.(22-24)CGG>CGA p.R8R DPH1_uc002ftr.1_Intron|DPH1_uc002fts.2_Intron|DPH1_uc002ftt.2_Intron|DPH1_uc010cjx.2_Intron|DPH1_uc010vqs.1_Intron|DPH1_uc002ftu.2_Intron|DPH1_uc002ftv.2_Intron|DPH1_uc002ftw.2_3'UTR NM_080822 NP_543012 Q8WZ82 OVCA2_HUMAN candidate tumor suppressor in ovarian cancer 2 8 response to retinoic acid cytoplasm hydrolase activity 0 GACCCCTGCGGGTCCTGTGCC 0.716 NA OREG0024078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 4 0 0 0 0 TRPV3 162514 broad.mit.edu 37 17 3419860 3419860 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr17:3419860C>T uc002fvt.1 - 16 2411 c.2089G>A c.(2089-2091)GCC>ACC p.A697T SPATA22_uc010vrg.1_5'Flank|TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_Missense_Mutation_p.A681T|TRPV3_uc010vri.1_Missense_Mutation_p.A652T|TRPV3_uc010vrj.1_Missense_Mutation_p.A681T|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Missense_Mutation_p.A681T|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Missense_Mutation_p.A697T|TRPV3_uc002fvu.2_Missense_Mutation_p.A697T NM_145068 NP_659505 Q8NET8 TRPV3_HUMAN transient receptor potential cation channel, 697 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(4) 4 Menthol(DB00825) ATGGTCCTGGCTCTCTGGGGA 0.537 NA 13 12 0 0 0 0 ZZEF1 23140 broad.mit.edu 37 17 3977538 3977538 + Silent SNP A A G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr17:3977538A>G uc002fxe.2 - 24 3655 c.3591T>C c.(3589-3591)GAT>GAC p.D1197D NM_015113 NP_055928 O43149 ZZEF1_HUMAN zinc finger, ZZ type with EF hand domain 1 1197 calcium ion binding|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 ACACGGCAACATCGGGCAGCC 0.587 NA OREG0024096 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 84 70 0 0 0 0 ZNF232 7775 broad.mit.edu 37 17 5009729 5009729 + Nonsense_Mutation SNP G G T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr17:5009729G>T uc002gas.2 - 5 1398 c.644C>A c.(643-645)TCA>TAA p.S215* ZNF232_uc002gar.1_Nonsense_Mutation_p.S233*|ZNF232_uc002gat.2_Nonsense_Mutation_p.S242* NM_014519 NP_055334 Q9UNY5 ZN232_HUMAN zinc finger protein 232 215 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(1)|ovary(1) 2 GAACACCTGTGATTCCACTTC 0.448 NA 30 14 1.4e-14 1.75e-14 1 0 TP53 7157 broad.mit.edu 37 17 7577126 7577126 + Missense_Mutation SNP T T A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr17:7577126T>A uc002gim.2 - 8 1006 c.812A>T c.(811-813)GAG>GTG p.E271V TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E271V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E139V|TP53_uc010cng.1_Missense_Mutation_p.E139V|TP53_uc002gii.1_Missense_Mutation_p.E139V|TP53_uc010cnh.1_Missense_Mutation_p.E271V|TP53_uc010cni.1_Missense_Mutation_p.E271V|TP53_uc002gij.2_Missense_Mutation_p.E271V NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 271 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> A (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E271K(22)|p.E271*(14)|p.0?(7)|p.E271V(5)|p.E271Q(3)|p.E271G(3)|p.E271D(3)|p.?(2)|p.G266_E271delGRNSFE(2)|p.E271E(2)|p.E271fs*73(1)|p.E258fs*71(1)|p.E271_R273delEVR(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.E271P(1)|p.E271del(1)|p.S269fs*34(1)|p.E271fs*34(1)|p.E271fs*35(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AACACGCACCTCAAAGCTGTT 0.532 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 16 9 0 0 0 0 DNAH9 1770 broad.mit.edu 37 17 11554533 11554533 + Missense_Mutation SNP G G T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr17:11554533G>T uc002gne.2 + 13 2313 c.2245G>T c.(2245-2247)GTT>TTT p.V749F DNAH9_uc010coo.2_Missense_Mutation_p.V43F NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 749 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GTACAACAAGGTTATGAAAAC 0.463 NA 5 69 0.00116845 0.00127074 1 0 MYO15A 51168 broad.mit.edu 37 17 18075505 18075505 + Silent SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr17:18075505C>T uc010vxh.1 + 63 10589 c.10251C>T c.(10249-10251)TCC>TCT p.S3417S MYO15A_uc010vxi.1_Silent_p.S681S|MYO15A_uc010vxk.1_Silent_p.S110S|MYO15A_uc010vxl.1_Silent_p.S406S|MYO15A_uc002gsl.2_Intron|MYO15A_uc010vxm.1_Missense_Mutation_p.P241L|MYO15A_uc010cpv.2_RNA NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 3417 Tail.|FERM. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) TCGGCTCCTCCTTCTTCTTCA 0.582 NA 4 33 0 0 0 0 MYO18A 399687 broad.mit.edu 37 17 27426719 27426719 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr17:27426719C>T uc002hdt.1 - 22 3727 c.3569G>A c.(3568-3570)AGG>AAG p.R1190K MYO18A_uc010wbc.1_Missense_Mutation_p.R732K|MYO18A_uc002hds.2_Missense_Mutation_p.R732K|MYO18A_uc010csa.1_Missense_Mutation_p.R1190K|MYO18A_uc002hdu.1_Missense_Mutation_p.R1190K|MYO18A_uc010wbd.1_Missense_Mutation_p.R859K NM_078471 NP_510880 Q92614 MY18A_HUMAN myosin 18A isoform a 1190 IQ. anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity 0 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) GGTTAGGTTCCTGCTGGTTTG 0.607 NA 12 29 0 0 0 0 TAOK1 57551 broad.mit.edu 37 17 27857580 27857580 + Missense_Mutation SNP A A T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr17:27857580A>T uc002hdz.1 + 18 2498 c.2304A>T c.(2302-2304)TTA>TTT p.L768F TAOK1_uc010wbe.1_Missense_Mutation_p.L620F|TAOK1_uc010wbf.1_Missense_Mutation_p.L768F NM_020791 NP_065842 Q7L7X3 TAOK1_HUMAN TAO kinase 1 768 Potential. mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1) 4 Colorectal(6;0.198) CCCGGAAATTAGCTATCTTGG 0.443 NA 28 37 0 0 0 0 ACCN1 40 broad.mit.edu 37 17 32483076 32483076 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr17:32483076C>T uc002hhu.2 - 1 750 c.476G>A c.(475-477)CGT>CAT p.R159H NM_001094 NP_001085 Q16515 ACCN1_HUMAN amiloride-sensitive cation channel 1, neuronal 159 Extracellular (By similarity). central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Breast(31;0.042)|Ovarian(249;0.202) UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215) Amiloride(DB00594) ATGGCCCACACGGTGCAGGAA 0.562 NA 39 74 0 0 0 0 MAPT 4137 broad.mit.edu 37 17 44096055 44096055 + Missense_Mutation SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr17:44096055C>A uc002ijr.3 + 13 2340 c.2020C>A c.(2020-2022)CTG>ATG p.L674M MAPT_uc010dau.2_Missense_Mutation_p.L692M|MAPT_uc002ijs.3_Missense_Mutation_p.L357M|MAPT_uc002ijx.3_Missense_Mutation_p.L328M|MAPT_uc002ijt.3_Missense_Mutation_p.L299M|MAPT_uc002iju.3_Missense_Mutation_p.L268M|MAPT_uc002ijv.3_Missense_Mutation_p.L275M NM_016835 NP_058519 P10636 TAU_HUMAN microtubule-associated protein tau isoform 1 674 Tau/MAP 4. cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton pancreas(1) 1 Melanoma(429;0.216) GATTGGGTCCCTGGACAATAT 0.493 NA 6 186 3.6e-05 4.09e-05 1 0 ACSF2 80221 broad.mit.edu 37 17 48548429 48548429 + Missense_Mutation SNP C C T rs148600715 TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr17:48548429C>T uc002iqu.2 + 11 1360 c.1256C>T c.(1255-1257)GCG>GTG p.A419V ACSF2_uc010wml.1_Missense_Mutation_p.A376V|ACSF2_uc010wmm.1_Missense_Mutation_p.A444V|ACSF2_uc010wmn.1_Missense_Mutation_p.A406V|ACSF2_uc010wmo.1_Missense_Mutation_p.A259V|CHAD_uc010dbr.2_5'Flank|CHAD_uc010dbs.2_5'Flank|ACSF2_uc010dbt.1_5'UTR NM_025149 NP_079425 Q96CM8 ACSF2_HUMAN acyl-CoA synthetase family member 2 precursor 419 fatty acid metabolic process mitochondrion ATP binding|ligase activity 0 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) GTGACATTCGCGCACTTCCCT 0.562 NA 33 54 0 0 0 0 CACNA1G 8913 broad.mit.edu 37 17 48694921 48694921 + Missense_Mutation SNP G G C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr17:48694921G>C uc002irk.1 + 29 5516 c.5144G>C c.(5143-5145)CGC>CCC p.R1715P CACNA1G_uc002irj.1_Missense_Mutation_p.R1681P|CACNA1G_uc002irl.1_Missense_Mutation_p.R1692P|CACNA1G_uc002irm.1_Missense_Mutation_p.R1681P|CACNA1G_uc002irn.1_Missense_Mutation_p.R1674P|CACNA1G_uc002iro.1_Missense_Mutation_p.R1681P|CACNA1G_uc002irp.1_Missense_Mutation_p.R1715P|CACNA1G_uc002irq.1_Missense_Mutation_p.R1692P|CACNA1G_uc002irr.1_Missense_Mutation_p.R1715P|CACNA1G_uc002irs.1_Missense_Mutation_p.R1704P|CACNA1G_uc002irt.1_Missense_Mutation_p.R1697P|CACNA1G_uc002irv.1_Missense_Mutation_p.R1704P|CACNA1G_uc002irw.1_Missense_Mutation_p.R1692P|CACNA1G_uc002iru.1_Missense_Mutation_p.R1681P|CACNA1G_uc002irx.1_Missense_Mutation_p.R1628P|CACNA1G_uc002iry.1_Missense_Mutation_p.R1617P|CACNA1G_uc002irz.1_Missense_Mutation_p.R1628P|CACNA1G_uc002isa.1_Missense_Mutation_p.R1594P|CACNA1G_uc002isb.1_Missense_Mutation_p.R1635P|CACNA1G_uc002isc.1_Missense_Mutation_p.R1617P|CACNA1G_uc002isd.1_Missense_Mutation_p.R1610P|CACNA1G_uc002ise.1_Missense_Mutation_p.R1583P|CACNA1G_uc002isf.1_Missense_Mutation_p.R1610P|CACNA1G_uc002isg.1_Missense_Mutation_p.R1576P|CACNA1G_uc002ish.1_Missense_Mutation_p.R1583P|CACNA1G_uc002isi.1_Missense_Mutation_p.R1571P NM_018896 NP_061496 O43497 CAC1G_HUMAN voltage-dependent calcium channel alpha 1G 1715 IV.|Helical; Name=S4 of repeat IV; (Potential). axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(1) 1 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) AGGGTGCTGCGCATTGCCCGA 0.622 NA 12 81 0 0 0 0 MPO 4353 broad.mit.edu 37 17 56355336 56355336 + Missense_Mutation SNP G G T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr17:56355336G>T uc002ivu.1 - 7 1233 c.1056C>A c.(1054-1056)AAC>AAA p.N352K NM_000250 NP_000241 P05164 PERM_HUMAN myeloperoxidase 352 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity ovary(2)|large_intestine(1)|pancreas(1) 4 Cefdinir(DB00535) TGTTGCGCAGGTTCCTGGCCA 0.642 NA 26 78 1.43e-11 1.74e-11 1 0 KIAA0195 9772 broad.mit.edu 37 17 73485427 73485427 + Missense_Mutation SNP A A G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr17:73485427A>G uc002jnz.3 + 8 1120 c.845A>G c.(844-846)CAC>CGC p.H282R KIAA0195_uc010wsa.1_Missense_Mutation_p.H292R|KIAA0195_uc010wsb.1_5'Flank NM_014738 NP_055553 Q12767 K0195_HUMAN hypothetical protein LOC9772 282 Helical; (Potential). ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism ovary(1) 1 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) GTGATGCTACACTATGCTGTG 0.637 NA 10 68 0 0 0 0 C17orf101 79701 broad.mit.edu 37 17 80350347 80350348 + Missense_Mutation DNP CC CC AA TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr17:80350347_80350348CC>AA uc002keu.1 - 9 987_988 c.886_887GG>TT c.(886-888)GGC>TTC p.G296F C17orf101_uc002ket.1_3'UTR|C17orf101_uc010dip.1_RNA NM_024648 NP_078924 Q6PK18 CQ101_HUMAN hypothetical protein LOC79701 isoform 1 296 Fe2OG dioxygenase.|Lumenal (Potential). integral to membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(1) 1 GTAACGGGTGCCCCAGTGGACC 0.624 NA 5 21 0 0 0 0 CEP192 55125 broad.mit.edu 37 18 13057679 13057679 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr18:13057679C>T uc010xac.1 + 20 4284 c.4204C>T c.(4204-4206)CGC>TGC p.R1402C CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.R927C|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_5'UTR|CEP192_uc002krs.1_Missense_Mutation_p.R1143C NM_032142 NP_115518 E9PF99 E9PF99_HUMAN centrosomal protein 192kDa 1402 ovary(4)|pancreas(1) 5 TCCAACTGACCGCTGGCTGCA 0.502 NA 48 13 0 0 0 0 PIAS2 9063 broad.mit.edu 37 18 44424058 44424058 + Nonsense_Mutation SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr18:44424058C>A uc002lck.2 - 8 1158 c.1000G>T c.(1000-1002)GAA>TAA p.E334* PIAS2_uc010dnp.2_Nonsense_Mutation_p.E32*|PIAS2_uc002lcl.2_Nonsense_Mutation_p.E334*|PIAS2_uc010xda.1_Nonsense_Mutation_p.E32*|PIAS2_uc002lcm.2_Nonsense_Mutation_p.E334*|PIAS2_uc002lcn.1_Nonsense_Mutation_p.E338* NM_004671 NP_004662 O75928 PIAS2_HUMAN protein inhibitor of activated STAT X isoform 334 SP-RING-type. androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|PML body androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding ovary(2)|breast(1)|skin(1) 4 GTAGCAATTTCACTATCAGGA 0.294 NA 24 23 5.62e-17 7.17e-17 1 0 MUC16 94025 broad.mit.edu 37 19 9082378 9082378 + Missense_Mutation SNP C C G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr19:9082378C>G uc002mkp.2 - 1 9641 c.9437G>C c.(9436-9438)AGC>ACC p.S3146T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 3147 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TGAAATAGAGCTTGCCCATGT 0.473 NA 22 24 0 0 0 0 SMARCA4 6597 broad.mit.edu 37 19 11096928 11096928 + Missense_Mutation SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr19:11096928C>A uc002mqf.3 + 4 703 c.419C>A c.(418-420)TCT>TAT p.S140Y SMARCA4_uc010dxp.2_Missense_Mutation_p.S140Y|SMARCA4_uc010dxo.2_Missense_Mutation_p.S140Y|SMARCA4_uc002mqg.1_Missense_Mutation_p.S140Y|SMARCA4_uc010dxq.2_Missense_Mutation_p.S140Y|SMARCA4_uc010dxr.2_Missense_Mutation_p.S140Y|SMARCA4_uc002mqj.3_Missense_Mutation_p.S140Y|SMARCA4_uc010dxs.2_Missense_Mutation_p.S140Y|SMARCA4_uc002mqe.2_Missense_Mutation_p.S140Y NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 140 Necessary for interaction with SS18L1/CREST (By similarity). chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) AGTGGCCCGTCTTCGGGGCCC 0.662 NA F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 28 21 6.39e-12 7.85e-12 1 0 CYP4F11 57834 broad.mit.edu 37 19 16034706 16034706 + Silent SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr19:16034706G>A uc002nbu.2 - 7 870 c.834C>T c.(832-834)CTC>CTT p.L278L CYP4F11_uc010eab.1_Silent_p.L278L|CYP4F11_uc002nbt.2_Silent_p.L278L NM_001128932 NP_001122404 Q9HBI6 CP4FB_HUMAN cytochrome P450 family 4 subfamily F polypeptide 278 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding ovary(1) 1 CCTGAGTGGGGAGGGTGCAGC 0.542 NA 69 90 0 0 0 0 FAM129C 199786 broad.mit.edu 37 19 17654420 17654420 + Missense_Mutation SNP C C A rs10401716 byFrequency TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr19:17654420C>A uc010xpr.1 + 13 1765 c.1627C>A c.(1627-1629)CTC>ATC p.L543I FAM129C_uc010xpq.1_Missense_Mutation_p.L543I|FAM129C_uc002ngy.3_Missense_Mutation_p.L269I|FAM129C_uc010xpu.1_Missense_Mutation_p.L269I|FAM129C_uc002ngz.3_RNA|FAM129C_uc010eaw.2_Intron|FAM129C_uc002nhb.2_Missense_Mutation_p.L172I NM_173544 NP_775815 Q86XR2 NIBL2_HUMAN B-cell novel protein 1 isoform a 543 0 GCTGAGCCAACTCGAGCCAGG 0.502 NA 3 23 0.004672 0.00500316 1 0 B3GNT3 10331 broad.mit.edu 37 19 17918965 17918965 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr19:17918965C>T uc002nhk.1 + 2 434 c.349C>T c.(349-351)CCT>TCT p.P117S B3GNT3_uc002nhl.1_Missense_Mutation_p.P117S|B3GNT3_uc010ebd.1_Missense_Mutation_p.P117S|B3GNT3_uc010ebe.1_Missense_Mutation_p.P117S NM_014256 NP_055071 Q9Y2A9 B3GN3_HUMAN UDP-GlcNAc:betaGal 117 Lumenal (Potential). protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity upper_aerodigestive_tract(1) 1 CAAGTCCTCCCCTAGCAACTA 0.667 NA 9 32 0 0 0 0 SFRS14 10147 broad.mit.edu 37 19 19130026 19130026 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr19:19130026C>T uc002nkx.2 - 4 1888 c.1742G>A c.(1741-1743)CGA>CAA p.R581Q SFRS14_uc002nkz.1_Missense_Mutation_p.R595Q|SFRS14_uc002nla.1_Missense_Mutation_p.R581Q|SFRS14_uc002nlb.2_Missense_Mutation_p.R581Q|SFRS14_uc010xqk.1_Missense_Mutation_p.R350Q NM_014884 NP_055699 Q8IX01 SUGP2_HUMAN splicing factor, arginine/serine-rich 14 581 mRNA processing|RNA splicing nucleus RNA binding 0 OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161) GTGATCTGCTCGCTGGGGGAC 0.522 NA 15 27 0 0 0 0 ZNF676 163223 broad.mit.edu 37 19 22363996 22363996 + Missense_Mutation SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr19:22363996C>A uc002nqs.1 - 3 841 c.523G>T c.(523-525)GGC>TGC p.G175C NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 175 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) AAAGCTTTGCCATTTTCTTCA 0.338 NA 25 33 8.25e-16 1.05e-15 1 0 ZNF536 9745 broad.mit.edu 37 19 30936598 30936598 + Missense_Mutation SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr19:30936598C>A uc002nsu.1 + 2 2267 c.2129C>A c.(2128-2130)GCC>GAC p.A710D ZNF536_uc010edd.1_Missense_Mutation_p.A710D NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 710 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) ACCGGGAGTGCCCAGGAGGAC 0.682 NA 4 60 0.00909568 0.00962971 1 0 ZFP14 57677 broad.mit.edu 37 19 36853054 36853054 + Silent SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr19:36853054C>T uc002odx.1 - 2 189 c.96G>A c.(94-96)AGG>AGA p.R32R ZFP14_uc010xtd.1_Silent_p.R32R|ZFP14_uc010eex.1_Silent_p.R32R NM_020917 NP_065968 Q9HCL3 ZFP14_HUMAN zinc finger protein 14-like 32 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Esophageal squamous(110;0.162) ACATTACATCCCTATATAAGT 0.403 NA 8 48 0 0 0 0 ZFP36 7538 broad.mit.edu 37 19 39899199 39899199 + Missense_Mutation SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr19:39899199C>A uc002olh.1 + 2 899 c.841C>A c.(841-843)CCT>ACT p.P281T ZFP36_uc010egn.1_Silent_p.T153T NM_003407 NP_003398 P26651 TTP_HUMAN zinc finger protein 36, C3H type, homolog 281 positive regulation of nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleus AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding pancreas(1) 1 all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) GGGATCCGACCCTGATGAATA 0.667 NA 26 82 7.42e-09 8.96e-09 1 0 FCGBP 8857 broad.mit.edu 37 19 40367841 40367841 + Silent SNP T T G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr19:40367841T>G uc002omp.3 - 29 13127 c.13119A>C c.(13117-13119)GCA>GCC p.A4373A NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 4373 TIL 10. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TCGTAAGGGGTGCAGGGGACG 0.627 NA 14 33 0 0 0 0 HIPK4 147746 broad.mit.edu 37 19 40886277 40886277 + Nonsense_Mutation SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr19:40886277G>A uc002onp.2 - 3 1906 c.1621C>T c.(1621-1623)CGA>TGA p.R541* NM_144685 NP_653286 Q8NE63 HIPK4_HUMAN homeodomain interacting protein kinase 4 541 cytoplasm ATP binding|protein serine/threonine kinase activity ovary(1)|stomach(1) 2 Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292) TCCTCATCTCGCTGCAGGATG 0.622 NA 38 76 0 0 0 0 RCN3 57333 broad.mit.edu 37 19 50046458 50046458 + Silent SNP C C T rs149927163 TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr19:50046458C>T uc002poj.2 + 7 1422 c.975C>T c.(973-975)CAC>CAT p.H325H NM_020650 NP_065701 Q96D15 RCN3_HUMAN reticulocalbin 3, EF-hand calcium binding domain 325 Prevents secretion from ER (Potential). endoplasmic reticulum lumen calcium ion binding|protein binding ovary(1) 1 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159) CCCGGCACCACGATGAGCTGT 0.647 NA 10 27 0 0 0 0 PRR12 57479 broad.mit.edu 37 19 50105149 50105149 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr19:50105149C>T uc002poo.3 + 6 4747 c.4747C>T c.(4747-4749)CGT>TGT p.R1583C NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN proline rich 12 762 DNA binding central_nervous_system(1)|pancreas(1) 2 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) GTTCGTCATCCGTGCTGAGGA 0.547 NA 4 32 0 0 0 0 CD33 945 broad.mit.edu 37 19 51728815 51728815 + Missense_Mutation SNP T T C rs146181856 byFrequency TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr19:51728815T>C uc002pwa.2 + 2 419 c.379T>C c.(379-381)TAC>CAC p.Y127H CD33_uc010eos.1_Missense_Mutation_p.Y127H|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank NM_001772 NP_001763 P20138 CD33_HUMAN CD33 antigen isoform 1 precursor 127 Extracellular (Potential).|Ig-like V-type. cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding 0 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) AAGTACCAAATACAGTTACAA 0.532 NA 53 44 0 0 0 0 NLRP5 126206 broad.mit.edu 37 19 56539846 56539846 + Silent SNP C C T rs149649207 by1000genomes TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr19:56539846C>T uc002qmj.2 + 7 2247 c.2247C>T c.(2245-2247)TCC>TCT p.S749S NLRP5_uc002qmi.2_Silent_p.S730S NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 749 LRR 2. mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GAGATGAGTCCGCTGAGGCAT 0.517 NA 19 290 0 0 0 0 WDR35 57539 broad.mit.edu 37 2 20138033 20138033 + Nonsense_Mutation SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:20138033G>A uc002rdi.2 - 19 2197 c.2089C>T c.(2089-2091)CGA>TGA p.R697* WDR35_uc002rdj.2_Nonsense_Mutation_p.R686*|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_Nonsense_Mutation_p.R262*|WDR35_uc002rdk.3_Nonsense_Mutation_p.R262* NM_001006657 NP_001006658 Q9P2L0 WDR35_HUMAN WD repeat domain 35 isoform 1 697 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TACCAAAGTCGGGGGTGTGGA 0.438 NA 22 122 0 0 0 0 C2orf16 84226 broad.mit.edu 37 2 27804830 27804830 + Missense_Mutation SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:27804830C>A uc002rkz.3 + 1 5442 c.5391C>A c.(5389-5391)AGC>AGA p.S1797R ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 1797 27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.|21. large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) CTGAGAGAAGCCATCACAGTC 0.547 NA 23 322 8.53e-09 1.03e-08 1 0 YPEL5 51646 broad.mit.edu 37 2 30379615 30379615 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:30379615C>T uc002rna.3 + 4 659 c.98C>T c.(97-99)ACT>ATT p.T33I YPEL5_uc002rnb.3_Missense_Mutation_p.T33I|YPEL5_uc002rnc.3_Missense_Mutation_p.T33I|YPEL5_uc002rmz.3_Missense_Mutation_p.T33I|YPEL5_uc010ezn.2_Intron|YPEL5_uc002rnd.2_Missense_Mutation_p.T33I NM_001127401 NP_001120873 P62699 YPEL5_HUMAN yippee-like 5 33 peptide-methionine-(S)-S-oxide reductase activity 0 Acute lymphoblastic leukemia(172;0.155) CTCATCTCCACTCGTTTCACA 0.438 NA 20 131 0 0 0 0 LRPPRC 10128 broad.mit.edu 37 2 44145429 44145429 + Missense_Mutation SNP T T A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:44145429T>A uc002rtr.2 - 28 3063 c.3005A>T c.(3004-3006)GAG>GTG p.E1002V LRPPRC_uc010yob.1_Missense_Mutation_p.E902V NM_133259 NP_573566 P42704 LPPRC_HUMAN leucine-rich PPR motif-containing protein 1002 mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding ovary(2)|skin(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) CTGGTTACCCTCTCTAAGGAT 0.368 NA 14 43 0 0 0 0 CCDC85A 114800 broad.mit.edu 37 2 56419698 56419698 + Silent SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:56419698G>A uc002rzn.2 + 2 865 c.363G>A c.(361-363)AGG>AGA p.R121R NM_001080433 NP_001073902 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 121 breast(3)|ovary(2) 5 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) AAGGCAAGAGGGTGTCTCGGG 0.542 NA 18 60 0 0 0 0 APLF 200558 broad.mit.edu 37 2 68772424 68772424 + Silent SNP C C G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:68772424C>G uc002sep.2 + 8 1439 c.1266C>G c.(1264-1266)CCC>CCG p.P422P APLF_uc002seq.1_RNA|APLF_uc010fdf.2_Silent_p.P398P|APLF_uc002ser.1_Silent_p.P153P NM_173545 NP_775816 Q8IW19 APLF_HUMAN aprataxin and PNKP like factor 422 PBZ-type 2. double-strand break repair|single strand break repair cytosol|nucleus 3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding ovary(2) 2 CTGAATGTCCCTATGGACCAT 0.423 NA 6 47 0 0 0 0 ST3GAL5 8869 broad.mit.edu 37 2 86075251 86075251 + Nonsense_Mutation SNP A A T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:86075251A>T uc002sqq.1 - 4 524 c.395T>A c.(394-396)TTA>TAA p.L132* ST3GAL5_uc010fgq.1_Nonsense_Mutation_p.L4*|ST3GAL5_uc002sqp.1_Nonsense_Mutation_p.L109* NM_003896 NP_003887 Q9UNP4 SIAT9_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 132 Lumenal (Potential). ganglioside biosynthetic process|protein glycosylation integral to Golgi membrane|integral to plasma membrane lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity 0 GTGCTCAAATAACAGCGCCAT 0.483 NA 135 222 0 0 0 0 MYO7B 4648 broad.mit.edu 37 2 128394185 128394185 + Silent SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:128394185C>T uc002top.2 + 45 6164 c.6111C>T c.(6109-6111)CTC>CTT p.L2037L MYO7B_uc002tos.1_Silent_p.L147L|MYO7B_uc002tot.2_Silent_p.L147L NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 2037 FERM 2. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity ovary(1)|pancreas(1) 2 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) GGGTTCTGCTCATCCACCCCA 0.652 NA 6 12 0 0 0 0 FAM123C 205147 broad.mit.edu 37 2 131521973 131521973 + Silent SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:131521973G>A uc002trw.2 + 2 2518 c.2328G>A c.(2326-2328)CAG>CAA p.Q776Q FAM123C_uc010fmv.2_Silent_p.Q776Q|FAM123C_uc010fms.1_Silent_p.Q776Q|FAM123C_uc010fmt.1_Silent_p.Q776Q|FAM123C_uc010fmu.1_Silent_p.Q776Q NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 776 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) AGCCCTTGCAGCTCAGCACAG 0.677 NA 7 18 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 141115638 141115638 + Missense_Mutation SNP A A C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:141115638A>C uc002tvj.1 - 74 12277 c.11305T>G c.(11305-11307)TGT>GGT p.C3769G NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3769 Extracellular (Potential).|LDL-receptor class A 32. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTATTACTACAAGCAAACTCA 0.388 NA TSP Lung(27;0.18) 26 45 0 0 0 0 NEB 4703 broad.mit.edu 37 2 152520126 152520126 + Missense_Mutation SNP T T C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:152520126T>C uc010fnx.2 - 45 5890 c.5699A>G c.(5698-5700)TAC>TGC p.Y1900C NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 1900 Nebulin 50. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) AAGCATGTTGTAGGTATGGAT 0.483 NA 8 35 0 0 0 0 TANC1 85461 broad.mit.edu 37 2 160028631 160028631 + Splice_Site SNP G G T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:160028631G>T uc002uag.2 + 11 1626 c.1352_splice c.e11-1 p.T451_splice TANC1_uc010fol.1_Splice_Site_p.T345_splice|TANC1_uc010zcm.1_Splice_Site_p.T443_splice|TANC1_uc010fom.1_Splice_Site_p.T257_splice NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and cell junction|postsynaptic density|postsynaptic membrane binding ovary(2)|central_nervous_system(1) 3 TTTCTCTGCAGCCTCTGACCC 0.438 NA 27 52 7.26e-15 9.1e-15 1 0 TTN 7273 broad.mit.edu 37 2 179604400 179604400 + Silent SNP A A G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:179604400A>G uc010zfh.1 - 46 13271 c.13047T>C c.(13045-13047)ACT>ACC p.T4349T TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Silent_p.T4282T|TTN_uc010zfj.1_Silent_p.T4157T|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTTCTGGTTCAGTAATGGGTT 0.393 NA 40 106 0 0 0 0 LOC200726 200726 broad.mit.edu 37 2 207509209 207509209 + Silent SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:207509209G>A uc010fuh.1 + 2 424 c.249G>A c.(247-249)GAG>GAA p.E83E NM_001102659 NP_001096129 hypothetical protein LOC200726 0 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.115)|Lung(261;0.133) AGTCATCTGAGAACTTGAAGC 0.493 NA 10 25 0 0 0 0 XRCC5 7520 broad.mit.edu 37 2 217002844 217002844 + Missense_Mutation SNP A A C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:217002844A>C uc002vfy.2 + 12 1424 c.1284A>C c.(1282-1284)GAA>GAC p.E428D XRCC5_uc002vfz.2_Missense_Mutation_p.E314D NM_021141 NP_066964 P13010 XRCC5_HUMAN ATP-dependent DNA helicase II 428 Ku. double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding lung(1)|kidney(1) 2 Renal(323;0.0328) Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117) CTTTCATGGAAGACTTGCGGC 0.368 NA Direct_reversal_of_damage|NHEJ 11 15 0 0 0 0 OBSL1 23363 broad.mit.edu 37 2 220417282 220417282 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:220417282C>T uc010fwk.2 - 18 5341 c.5284G>A c.(5284-5286)GCC>ACC p.A1762T NM_015311 NP_056126 O75147 OBSL1_HUMAN obscurin-like 1 1762 cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity 0 Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) CGGACGCGGGCTCCGGGTCTC 0.731 NA 6 15 0 0 0 0 OBSL1 23363 broad.mit.edu 37 2 220424011 220424011 + Silent SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:220424011C>T uc010fwk.2 - 9 3219 c.3162G>A c.(3160-3162)GAG>GAA p.E1054E OBSL1_uc002vmh.1_Silent_p.E45E|OBSL1_uc010zli.1_Silent_p.E45E|OBSL1_uc010fwl.1_Silent_p.E529E NM_015311 NP_056126 O75147 OBSL1_HUMAN obscurin-like 1 1054 Ig-like 8. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity 0 Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) CGCCCCCGTCCTCGGGCTGAG 0.617 NA 31 109 0 0 0 0 SLC19A3 80704 broad.mit.edu 37 2 228563937 228563937 + Missense_Mutation SNP G G A rs144223086 byFrequency TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:228563937G>A uc002vpi.2 - 3 583 c.494C>T c.(493-495)GCG>GTG p.A165V SLC19A3_uc002vpj.2_RNA|SLC19A3_uc010zlv.1_Missense_Mutation_p.A161V NM_025243 NP_079519 Q9BZV2 S19A3_HUMAN solute carrier family 19, member 3 165 Helical; (Potential). thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity ovary(2) 2 Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236) Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125) L-Cysteine(DB00151) CGACATGTTCGCCAGGGATAC 0.542 NA 48 90 0 0 0 0 ALPI 248 broad.mit.edu 37 2 233321697 233321697 + Missense_Mutation SNP G G C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:233321697G>C uc002vst.3 + 4 466 c.389G>C c.(388-390)GGC>GCC p.G130A ALPI_uc002vsu.3_Missense_Mutation_p.G41A NM_001631 NP_001622 P09923 PPBI_HUMAN intestinal alkaline phosphatase precursor 130 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding central_nervous_system(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) CAGACCATCGGCTTGAGTGCA 0.617 NA 3 34 0 0 0 0 SH3BP4 23677 broad.mit.edu 37 2 235949783 235949783 + Missense_Mutation SNP A A G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:235949783A>G uc002vvp.2 + 4 763 c.370A>G c.(370-372)ATG>GTG p.M124V SH3BP4_uc010fym.2_Missense_Mutation_p.M124V|SH3BP4_uc002vvq.2_Missense_Mutation_p.M124V NM_014521 NP_055336 Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 124 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding skin(3)|ovary(1) 4 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) TGACAGCGGTATGATTGATAA 0.527 NA 17 41 0 0 0 0 KIF1A 547 broad.mit.edu 37 2 241657475 241657475 + Silent SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr2:241657475C>T uc002vzy.2 - 46 5168 c.5022G>A c.(5020-5022)GGG>GGA p.G1674G KIF1A_uc010fzk.2_Silent_p.G1775G|KIF1A_uc002vzw.2_Silent_p.G335G|KIF1A_uc002vzx.2_Silent_p.G401G NM_004321 NP_004312 Q12756 KIF1A_HUMAN axonal transport of synaptic vesicles 1674 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity lung(1) 1 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) ACCGTATGGTCCCGGCCAGGA 0.667 NA 4 14 0 0 0 0 PLCB4 5332 broad.mit.edu 37 20 9391725 9391725 + Nonsense_Mutation SNP G G T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr20:9391725G>T uc002wnf.2 + 23 2141 c.2005G>T c.(2005-2007)GGA>TGA p.G669* PLCB4_uc010gbw.1_Nonsense_Mutation_p.G669*|PLCB4_uc010gbx.2_Nonsense_Mutation_p.G681*|PLCB4_uc002wne.2_Nonsense_Mutation_p.G669*|PLCB4_uc002wnh.2_Nonsense_Mutation_p.G516* NM_182797 NP_877949 Q15147 PLCB4_HUMAN phospholipase C beta 4 isoform b 669 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity skin(11)|ovary(3)|pancreas(1) 15 TGAGTATAATGGATCGTGCGG 0.368 NA 12 35 7.04e-09 8.52e-09 1 0 KIF3B 9371 broad.mit.edu 37 20 30904034 30904034 + Missense_Mutation SNP A A C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr20:30904034A>C uc002wxq.2 + 3 1585 c.1418A>C c.(1417-1419)AAG>ACG p.K473T KIF3B_uc010ztw.1_Missense_Mutation_p.K411T NM_004798 NP_004789 O15066 KIF3B_HUMAN kinesin family member 3B 473 Potential. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding central_nervous_system(3)|ovary(2) 5 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) ATGGAGAGTAAGTTGCTTGTT 0.408 NA 11 79 0 0 0 0 ZBP1 81030 broad.mit.edu 37 20 56189965 56189965 + Silent SNP T T C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr20:56189965T>C uc002xyo.2 - 4 761 c.480A>G c.(478-480)AAA>AAG p.K160K ZBP1_uc010gjm.2_Silent_p.K160K|ZBP1_uc002xyp.2_Silent_p.K85K|ZBP1_uc010zzn.1_Silent_p.K160K NM_030776 NP_110403 Q9H171 ZBP1_HUMAN Z-DNA binding protein 1 isoform a 160 DRADA 2. cytoplasm|nucleus double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding ovary(2) 2 Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08) TCGTCCATGCTTTGGACTGCT 0.557 NA 57 121 0 0 0 0 KRTAP13-2 337959 broad.mit.edu 37 21 31744004 31744004 + Nonstop_Mutation SNP T T A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr21:31744004T>A uc002ynz.3 - 1 554 c.528A>T c.(526-528)TGA>TGT p.*176C NM_181621 NP_853652 Q52LG2 KR132_HUMAN keratin associated protein 13-2 176 intermediate filament 0 GTCTGGAAATTCAGCAAGTTG 0.468 NA 4 53 0 0 0 0 XYLB 9942 broad.mit.edu 37 3 38442394 38442394 + Missense_Mutation SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr3:38442394G>A uc003cic.2 + 18 1560 c.1451G>A c.(1450-1452)GGA>GAA p.G484E XYLB_uc011ayp.1_Missense_Mutation_p.G347E|XYLB_uc003cid.1_Missense_Mutation_p.G406E NM_005108 NP_005099 O75191 XYLB_HUMAN xylulokinase 484 D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process ATP binding|xylulokinase activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405) CTTGCAGGTGGAACAGATGTG 0.468 NA 22 21 0 0 0 0 AMIGO3 386724 broad.mit.edu 37 3 49756364 49756364 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr3:49756364C>T uc003cxj.2 - 1 875 c.535G>A c.(535-537)GGT>AGT p.G179S RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron NM_198722 NP_942015 Q86WK7 AMGO3_HUMAN adhesion molecule with Ig-like domain 3 179 Extracellular (Potential). heterophilic cell-cell adhesion integral to membrane pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GCGCTCAGACCGTGCAGGTGG 0.642 NA OREG0015572 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 29 0 0 0 0 CACNA1D 776 broad.mit.edu 37 3 53842766 53842766 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr3:53842766C>T uc003dgv.3 + 46 6003 c.5840C>T c.(5839-5841)ACG>ATG p.T1947M CACNA1D_uc003dgu.3_Missense_Mutation_p.T1967M|CACNA1D_uc003dgy.3_Missense_Mutation_p.T1923M|CACNA1D_uc003dgw.3_Missense_Mutation_p.T1614M|CACNA1D_uc011bes.1_RNA NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, 1947 Cytoplasmic (Potential). axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) CCCCATCGCACGGCCCTGCCT 0.642 NA 9 60 0 0 0 0 MBNL1 4154 broad.mit.edu 37 3 152163264 152163264 + Missense_Mutation SNP A A C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr3:152163264A>C uc003ezm.2 + 4 1532 c.743A>C c.(742-744)AAG>ACG p.K248T MBNL1_uc003ezh.2_Missense_Mutation_p.K248T|MBNL1_uc003ezi.2_Missense_Mutation_p.K248T|MBNL1_uc003ezj.2_Missense_Mutation_p.K191T|MBNL1_uc003ezl.2_Missense_Mutation_p.K248T|MBNL1_uc003ezp.2_Missense_Mutation_p.K248T|MBNL1_uc003ezn.2_Missense_Mutation_p.K180T|MBNL1_uc003ezo.2_Missense_Mutation_p.K180T|MBNL1_uc010hvp.2_Missense_Mutation_p.K156T NM_207293 NP_997176 Q9NR56 MBNL1_HUMAN muscleblind-like 1 isoform c 248 embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development nucleus|stress granule double-stranded RNA binding|protein binding|zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) GCCAAGATCAAGGCTGCCCAA 0.512 NA 137 138 0 0 0 0 MECOM 2122 broad.mit.edu 37 3 168807903 168807903 + Missense_Mutation SNP T T C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr3:168807903T>C uc003ffi.3 - 14 2991 c.2722A>G c.(2722-2724)ATT>GTT p.I908V MECOM_uc010hwk.1_Missense_Mutation_p.I922V|MECOM_uc003ffj.3_Missense_Mutation_p.I973V|MECOM_uc011bpi.1_Missense_Mutation_p.I900V|MECOM_uc003ffn.3_Missense_Mutation_p.I908V|MECOM_uc003ffk.2_Missense_Mutation_p.I899V|MECOM_uc003ffl.2_Missense_Mutation_p.I1059V|MECOM_uc011bpj.1_Missense_Mutation_p.I1096V|MECOM_uc011bpk.1_Missense_Mutation_p.I898V NM_005241 NP_005232 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform b 908 Asp/Glu-rich (acidic). apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 TTTCCAGTAATATCATTGTCT 0.408 NA 35 199 0 0 0 0 ADIPOQ 9370 broad.mit.edu 37 3 186571026 186571026 + Missense_Mutation SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr3:186571026G>A uc003fra.2 + 2 263 c.179G>A c.(178-180)GGC>GAC p.G60D ADIPOQ_uc010hyy.2_Missense_Mutation_p.G60D NM_004797 NP_004788 Q15848 ADIPO_HUMAN adiponectin precursor 60 Collagen-like. brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor collagen|endoplasmic reticulum|extracellular space cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity ovary(1) 1 all_cancers(143;1.2e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.47e-19) GBM - Glioblastoma multiforme(93;0.0776) GGCAGAGATGGCACCCCTGGT 0.567 NA 9 52 0 0 0 0 LRRC15 131578 broad.mit.edu 37 3 194081062 194081062 + Silent SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr3:194081062G>A uc003ftu.2 - 2 797 c.711C>T c.(709-711)TCC>TCT p.S237S LRRC15_uc003ftt.2_Silent_p.S243S NM_130830 NP_570843 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 isoform b 237 Extracellular (Potential).|LRR 8. integral to membrane ovary(3) 3 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) AGAGACCAGGGGAGAGCAGTC 0.552 NA 5 202 0 0 0 0 GRSF1 2926 broad.mit.edu 37 4 71698926 71698926 + Silent SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr4:71698926C>T uc010iia.1 - 3 662 c.579G>A c.(577-579)AGG>AGA p.R193R GRSF1_uc011caz.1_Silent_p.R75R|GRSF1_uc003hfs.2_Silent_p.R31R NM_002092 NP_002083 Q12849 GRSF1_HUMAN G-rich RNA sequence binding factor 1 isoform 1 193 RRM 1. mRNA polyadenylation mRNA binding|nucleotide binding 0 all_hematologic(202;0.21) Lung(101;0.235) AGGCATCACCCCTTCGTTTCC 0.438 NA 18 61 0 0 0 0 SLC4A4 8671 broad.mit.edu 37 4 72222834 72222834 + Missense_Mutation SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr4:72222834C>A uc003hfy.2 + 6 777 c.660C>A c.(658-660)AAC>AAA p.N220K SLC4A4_uc010iic.2_Missense_Mutation_p.N220K|SLC4A4_uc010iib.2_Missense_Mutation_p.N220K|SLC4A4_uc003hfz.2_Missense_Mutation_p.N220K|SLC4A4_uc003hgc.3_Missense_Mutation_p.N176K|SLC4A4_uc003hga.2_Missense_Mutation_p.N98K|SLC4A4_uc003hgb.3_Missense_Mutation_p.N176K NM_001098484 NP_001091954 Q9Y6R1 S4A4_HUMAN solute carrier family 4, sodium bicarbonate 220 Cytoplasmic (Potential). basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|kidney(1)|skin(1) 5 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) AGAAATCCAACCTTCGGTCCC 0.483 NA 23 88 4.72e-08 5.64e-08 1 0 SHROOM3 57619 broad.mit.edu 37 4 77662554 77662554 + Silent SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr4:77662554C>T uc011cbx.1 + 5 4181 c.3228C>T c.(3226-3228)CCC>CCT p.P1076P SHROOM3_uc011cbz.1_Silent_p.P900P|SHROOM3_uc003hkf.1_Silent_p.P951P|SHROOM3_uc003hkg.2_Silent_p.P854P NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 1076 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding skin(2)|ovary(1) 3 Lung(101;0.0903) TGTCGGGGCCCGAGCTGAAGC 0.692 NA 10 9 0 0 0 0 NHEDC1 150159 broad.mit.edu 37 4 103912839 103912839 + Missense_Mutation SNP A A T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr4:103912839A>T uc003hww.2 - 2 152 c.30T>A c.(28-30)CAT>CAA p.H10Q NHEDC1_uc003hwu.2_Missense_Mutation_p.H10Q|NHEDC1_uc010ilm.2_5'UTR|NHEDC1_uc003hwv.2_RNA|NHEDC1_uc011cev.1_5'UTR NM_139173 NP_631912 Q4ZJI4 NHDC1_HUMAN Na+/H+ exchanger domain containing 1 isoform 1 10 integral to membrane solute:hydrogen antiporter activity ovary(1)|skin(1) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;1.5e-08) CATCCTCCAAATGTTCATTTT 0.264 NA 3 2 0 0 0 0 PCDH18 54510 broad.mit.edu 37 4 138451312 138451312 + Missense_Mutation SNP A A C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr4:138451312A>C uc003ihe.3 - 1 2318 c.1931T>G c.(1930-1932)ATG>AGG p.M644R PCDH18_uc003ihf.3_Missense_Mutation_p.M637R|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.M424R|PCDH18_uc011cha.1_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN protocadherin 18 precursor 644 Cadherin 6.|Extracellular (Potential). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding pancreas(3)|skin(2) 5 all_hematologic(180;0.24) AACAGAATCCATGCTAACGTT 0.438 NA 4 185 0 0 0 0 CDH12 1010 broad.mit.edu 37 5 21975279 21975279 + Missense_Mutation SNP T T A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr5:21975279T>A uc010iuc.2 - 3 905 c.447A>T c.(445-447)AAA>AAT p.K149N CDH12_uc011cno.1_Missense_Mutation_p.K149N|CDH12_uc003jgk.2_Missense_Mutation_p.K149N NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 149 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 TATCCTGCACTTTGATGATGA 0.423 NA HNSCC(59;0.17) 5 77 0 0 0 0 PRDM9 56979 broad.mit.edu 37 5 23522937 23522937 + Silent SNP T T C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr5:23522937T>C uc003jgo.2 + 8 1007 c.825T>C c.(823-825)CCT>CCC p.P275P NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 275 SET. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 ACTTTGGCCCTTATGAGGGCC 0.557 NA HNSCC(3;0.000094) 3 84 0 0 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33576945 33576945 + Silent SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr5:33576945C>T uc003jia.1 - 19 3349 c.3186G>A c.(3184-3186)CTG>CTA p.L1062L ADAMTS12_uc010iuq.1_Silent_p.L977L NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1062 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 GTTTCCCACCCAGGTCTCCTT 0.547 NA HNSCC(64;0.19) 29 49 0 0 0 0 TTC23L 153657 broad.mit.edu 37 5 34880347 34880347 + Missense_Mutation SNP G G T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr5:34880347G>T uc003jiu.2 + 9 1114 c.1011G>T c.(1009-1011)GAG>GAT p.E337D TTC23L_uc010iut.1_3'UTR NM_144725 NP_653326 Q6PF05 TT23L_HUMAN tetratricopeptide repeat domain 23-like 337 binding central_nervous_system(1) 1 TGGGCTCAGAGGATTTTGAAA 0.348 NA 12 31 1.09e-07 1.29e-07 1 0 ESM1 11082 broad.mit.edu 37 5 54277890 54277890 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr5:54277890C>T uc003jpk.2 - 2 455 c.386G>A c.(385-387)TGC>TAC p.C129Y ESM1_uc010ivt.2_Intron NM_007036 NP_008967 Q9NQ30 ESM1_HUMAN endothelial cell-specific molecule 1 isoform a 129 angiogenesis|regulation of cell growth extracellular region growth factor activity|insulin-like growth factor binding 0 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116) Lung(15;0.23) GAATTTCAGGCATTTTCCCGT 0.483 NA 30 36 0 0 0 0 TMEM174 134288 broad.mit.edu 37 5 72469320 72469320 + Missense_Mutation SNP A A T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr5:72469320A>T uc010izc.2 + 1 298 c.250A>T c.(250-252)ACA>TCA p.T84S NM_153217 NP_694949 Q8WUU8 TM174_HUMAN transmembrane protein 174 84 Helical; (Potential). integral to membrane ovary(1) 1 Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;1.46e-54) AGTTGGGGTGACATTCATCCT 0.532 NA 46 85 0 0 0 0 ANKRD32 84250 broad.mit.edu 37 5 94030836 94030836 + Missense_Mutation SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr5:94030836C>A uc003kkr.3 + 21 3076 c.2996C>A c.(2995-2997)ACC>AAC p.T999N ANKRD32_uc003kks.2_Missense_Mutation_p.T363N NM_032290 NP_115666 Q9BQI6 ANR32_HUMAN ankyrin repeat domain 32 999 ovary(2) 2 all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152) all cancers(79;3.88e-18) CATAAAGAAACCACCAGTGTT 0.348 NA 9 35 0.00621372 0.00664143 1 0 ARSK 153642 broad.mit.edu 37 5 94936601 94936601 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr5:94936601C>T uc003kld.2 + 7 1305 c.1147C>T c.(1147-1149)CCG>TCG p.P383S ARSK_uc010jbg.2_Missense_Mutation_p.P224S|ARSK_uc011cum.1_RNA NM_198150 NP_937793 Q6UWY0 ARSK_HUMAN arylsulfatase K precursor 383 extracellular region arylsulfatase activity|metal ion binding pancreas(1) 1 all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473) all cancers(79;6.5e-16) CTCTTTGTTGCCGTTATCATC 0.358 NA 21 36 0 0 0 0 DMXL1 1657 broad.mit.edu 37 5 118445852 118445852 + Missense_Mutation SNP G G A rs141228194 TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr5:118445852G>A uc003ksd.2 + 5 552 c.371G>A c.(370-372)CGT>CAT p.R124H DMXL1_uc010jcl.1_Missense_Mutation_p.R124H|DMXL1_uc003ksc.1_Missense_Mutation_p.R124H NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 124 WD 1. ovary(2) 2 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) TTAGGCAGTCGTCTTTTAACT 0.284 NA 7 17 0 0 0 0 ZNF608 57507 broad.mit.edu 37 5 124080411 124080411 + Missense_Mutation SNP G G C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr5:124080411G>C uc003ktq.1 - 1 395 c.272C>G c.(271-273)TCT>TGT p.S91C ZNF608_uc003ktr.1_RNA|ZNF608_uc003kts.1_Missense_Mutation_p.S91C|ZNF608_uc003ktt.1_Missense_Mutation_p.S91C NM_020747 NP_065798 Q9ULD9 ZN608_HUMAN zinc finger protein 608 91 intracellular zinc ion binding skin(3)|ovary(2)|lung(1) 6 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) CTGGGGAGCAGAGGCCTGAAC 0.498 NA 4 61 0 0 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128983577 128983577 + Silent SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr5:128983577C>T uc003kvb.1 + 12 1974 c.1974C>T c.(1972-1974)CGC>CGT p.R658R ADAMTS19_uc010jdh.1_RNA NM_133638 NP_598377 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 658 TSP type-1 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|breast(2)|lung(1)|skin(1) 9 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) GTCGAGAGCGCAAATGTCCTG 0.507 NA 43 91 0 0 0 0 RAPGEF6 51735 broad.mit.edu 37 5 130897676 130897676 + Missense_Mutation SNP T T A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr5:130897676T>A uc003kvn.1 - 5 552 c.346A>T c.(346-348)ATT>TTT p.I116F RAPGEF6_uc003kvp.1_Missense_Mutation_p.I166F|RAPGEF6_uc003kvo.1_Missense_Mutation_p.I116F|RAPGEF6_uc010jdi.1_Missense_Mutation_p.I116F|RAPGEF6_uc010jdj.1_Missense_Mutation_p.I116F|RAPGEF6_uc003kvr.2_Missense_Mutation_p.I116F|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.I116F NM_016340 NP_057424 Q8TEU7 RPGF6_HUMAN PDZ domain-containing guanine nucleotide 116 Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding ovary(1)|lung(1)|central_nervous_system(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) CTTACCACAATCATTTCTGAA 0.303 NA 14 43 0 0 0 0 PCDHB16 57717 broad.mit.edu 37 5 140564246 140564246 + Silent SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr5:140564246G>A uc003liv.2 + 1 3267 c.2112G>A c.(2110-2112)TCG>TCA p.S704S PCDHB9_uc003liw.1_5'Flank NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN protocadherin beta 16 precursor 704 Helical; (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCTCTTTTCGGTGCTCCTGT 0.697 NA 16 274 0 0 0 0 GABRB2 2561 broad.mit.edu 37 5 160758103 160758103 + Missense_Mutation SNP G G C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr5:160758103G>C uc003lys.1 - 9 1082 c.864C>G c.(862-864)ATC>ATG p.I288M GABRB2_uc011deh.1_Missense_Mutation_p.I127M|GABRB2_uc003lyr.1_Missense_Mutation_p.I288M|GABRB2_uc003lyt.1_Missense_Mutation_p.I288M|GABRB2_uc010jiu.1_Missense_Mutation_p.I225M NM_021911 NP_068711 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 288 Helical; (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity 0 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GGTGGGTGTTGATTGTGGTCA 0.428 NA 46 81 0 0 0 0 GFOD1 54438 broad.mit.edu 37 6 13365330 13365330 + Missense_Mutation SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr6:13365330G>A uc003nat.1 - 2 1483 c.818C>T c.(817-819)CCG>CTG p.P273L GFOD1_uc003nas.1_Missense_Mutation_p.P170L NM_018988 NP_061861 Q9NXC2 GFOD1_HUMAN glucose-fructose oxidoreductase domain 273 extracellular region binding|oxidoreductase activity ovary(2) 2 Breast(50;0.0296)|Ovarian(93;0.0454) all_hematologic(90;0.135) Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108) CTCCTGCTCCGGGGCGCTGTT 0.697 NA 32 16 0 0 0 0 TNXB 7148 broad.mit.edu 37 6 32041664 32041664 + Missense_Mutation SNP T T C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr6:32041664T>C uc003nzl.2 - 12 4643 c.4441A>G c.(4441-4443)ACA>GCA p.T1481A NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 1568 Fibronectin type-III 8. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 TCTGTCACTGTCAGCTCTCCT 0.587 NA 4 14 0 0 0 0 TCP11 6954 broad.mit.edu 37 6 35088707 35088707 + Nonsense_Mutation SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr6:35088707C>A uc003okd.2 - 6 914 c.733G>T c.(733-735)GAA>TAA p.E245* TCP11_uc003ojz.1_Nonsense_Mutation_p.E170*|TCP11_uc003oka.2_Nonsense_Mutation_p.E170*|TCP11_uc003okb.2_Nonsense_Mutation_p.E169*|TCP11_uc003okc.2_Nonsense_Mutation_p.E169*|TCP11_uc011dsu.1_Nonsense_Mutation_p.E227*|TCP11_uc011dsv.1_Nonsense_Mutation_p.E194*|TCP11_uc011dsw.1_Nonsense_Mutation_p.E199* NM_001093728 NP_001087197 Q8WWU5 TCP11_HUMAN t-complex 11 isoform 1 232 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane ovary(3)|skin(2) 5 TTGAGGAGTTCCTGGAATTTA 0.443 NA 94 276 1.41e-40 1.85e-40 1 0 DNAH8 1769 broad.mit.edu 37 6 38843395 38843395 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr6:38843395C>T uc003ooe.1 + 51 7598 c.6998C>T c.(6997-6999)CCC>CTC p.P2333L NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 GGGTTAATTCCCTCCAAAGAA 0.289 NA 24 5 0 0 0 0 BYSL 705 broad.mit.edu 37 6 41899233 41899233 + Silent SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr6:41899233C>T uc003orl.2 + 5 1140 c.804C>T c.(802-804)CTC>CTT p.L268L NM_004053 NP_004044 Q13895 BYST_HUMAN bystin 268 cell adhesion|female pregnancy|ribosome biogenesis cytoplasm|nucleolus 0 Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) ACAAACGACTCAACTTCCATC 0.522 NA 31 80 0 0 0 0 C6orf153 88745 broad.mit.edu 37 6 42996851 42996851 + Missense_Mutation SNP T T A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr6:42996851T>A uc003otp.1 + 7 673 c.665T>A c.(664-666)CTA>CAA p.L222Q NM_033112 NP_149103 Q96EU6 RRP36_HUMAN hypothetical protein LOC88745 222 ribosomal small subunit biogenesis|rRNA processing nucleolus 0 Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) CAGTTGGCACTAGCTGAGAAG 0.483 NA 192 285 0 0 0 0 RSPH9 221421 broad.mit.edu 37 6 43618143 43618143 + Missense_Mutation SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr6:43618143C>A uc003ovw.1 + 2 285 c.259C>A c.(259-261)CCT>ACT p.P87T RSPH9_uc003ovx.1_Missense_Mutation_p.P87T NM_152732 NP_689945 Q9H1X1 RSPH9_HUMAN radial spoke head 9 homolog 87 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton upper_aerodigestive_tract(1)|skin(1) 2 CCTCTTGCCCCCTGCCACAGA 0.537 NA Kartagener_syndrome 14 81 0.000151284 0.000168462 1 0 HMGCLL1 54511 broad.mit.edu 37 6 55304315 55304315 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr6:55304315C>T uc003pcn.2 - 9 1087 c.928G>A c.(928-930)GGC>AGC p.G310S HMGCLL1_uc003pco.2_Missense_Mutation_p.G280S|HMGCLL1_uc010jzx.2_Missense_Mutation_p.G181S|HMGCLL1_uc011dxc.1_Missense_Mutation_p.G248S|HMGCLL1_uc011dxd.1_Missense_Mutation_p.G177S|HMGCLL1_uc011dxe.1_Missense_Mutation_p.G114S NM_019036 NP_061909 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-Coenzyme A 310 hydroxymethylglutaryl-CoA lyase activity|metal ion binding skin(2)|ovary(1)|pancreas(1) 4 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) TAAGGGCAGCCACCTAATCCG 0.428 NA 38 41 0 0 0 0 ZNF451 26036 broad.mit.edu 37 6 56997899 56997899 + Missense_Mutation SNP A A C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr6:56997899A>C uc003pdm.1 + 6 708 c.484A>C c.(484-486)ACG>CCG p.T162P ZNF451_uc003pdl.2_Missense_Mutation_p.T162P|ZNF451_uc003pdn.1_Missense_Mutation_p.T162P|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.T162P NM_001031623 NP_001026794 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 isoform 1 162 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) AGGAGGCCACACGTGGGTGTC 0.393 NA 15 47 0 0 0 0 MANEA 79694 broad.mit.edu 37 6 96053864 96053864 + Silent SNP T T C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr6:96053864T>C uc003poo.1 + 5 1112 c.972T>C c.(970-972)TTT>TTC p.F324F NM_024641 NP_078917 Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 324 Catalytic (Probable).|Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity ovary(2)|breast(1) 3 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) ACACATATTTTGCCACAAATG 0.343 NA 17 12 0 0 0 0 USP45 85015 broad.mit.edu 37 6 99883592 99883592 + Silent SNP T T C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr6:99883592T>C uc003ppx.2 - 18 2978 c.2445A>G c.(2443-2445)TAA>TAG p.*815* USP45_uc003ppv.2_RNA|USP45_uc003ppw.2_Silent_p.*495* NM_001080481 NP_001073950 Q70EL2 UBP45_HUMAN ubiquitin specific peptidase 45 815 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|breast(1) 2 all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133) BRCA - Breast invasive adenocarcinoma(108;0.0718) CCATTAATAGTTATAATACTC 0.363 NA 18 12 0 0 0 0 OSTM1 28962 broad.mit.edu 37 6 108395812 108395812 + Missense_Mutation SNP G G T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr6:108395812G>T uc003psd.2 - 1 130 c.44C>A c.(43-45)CCG>CAG p.P15Q NM_014028 NP_054747 Q86WC4 OSTM1_HUMAN osteopetrosis associated transmembrane protein 1 15 integral to membrane central_nervous_system(1) 1 all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938) BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581) CAGCCACGGCGGCAACGAACA 0.751 NA 6 6 8.13e-05 9.09e-05 1 0 AKD1 221264 broad.mit.edu 37 6 109819090 109819090 + Missense_Mutation SNP T T C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr6:109819090T>C uc003ptn.2 - 37 5202 c.5125A>G c.(5125-5127)AGA>GGA p.R1709G AKD1_uc011eas.1_Missense_Mutation_p.R94G NM_001145128 NP_001138600 Q5TCS8 AKD1_HUMAN adenylate kinase domain containing 1 isoform 1 1709 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity ovary(1) 1 AGTGTCAGTCTTTTGGGGATC 0.473 NA 22 27 0 0 0 0 C6orf58 352999 broad.mit.edu 37 6 127911377 127911377 + Missense_Mutation SNP A A G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr6:127911377A>G uc003qbh.2 + 5 832 c.820A>G c.(820-822)ACT>GCT p.T274A NM_001010905 NP_001010905 Q6P5S2 CF058_HUMAN hypothetical protein LOC352999 precursor 274 extracellular region 0 GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156) TCTTCTTAATACTGATGTAGC 0.398 NA 51 38 0 0 0 0 RAET1G 353091 broad.mit.edu 37 6 150240749 150240749 + Missense_Mutation SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr6:150240749C>A uc010kii.1 - 2 357 c.289G>T c.(289-291)GTG>TTG p.V97L RAET1G_uc003qnm.2_RNA NM_001001788 NP_001001788 Q6H3X3 RET1G_HUMAN retinoic acid early transcript 1G precursor 97 MHC class I alpha-1 like.|Extracellular (Potential). antigen processing and presentation|immune response integral to membrane|MHC class I protein complex protein binding 0 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.73e-12) ATGTCCACCACCTCTCTCAGT 0.507 NA 45 129 3.05e-18 3.91e-18 1 0 SYNE1 23345 broad.mit.edu 37 6 152542128 152542128 + Missense_Mutation SNP A A G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr6:152542128A>G uc010kiw.2 - 119 22312 c.21710T>C c.(21709-21711)CTA>CCA p.L7237P SYNE1_uc010kiv.2_Missense_Mutation_p.L1761P|SYNE1_uc003qos.3_Missense_Mutation_p.L1761P|SYNE1_uc003qot.3_Missense_Mutation_p.L7166P|SYNE1_uc003qou.3_Missense_Mutation_p.L7237P|SYNE1_uc003qor.3_Missense_Mutation_p.L137P NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7237 HAT 10.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AAGCTGAAGTAGGGCCTTGCT 0.478 NA HNSCC(10;0.0054) 24 40 0 0 0 0 ISPD 729920 broad.mit.edu 37 7 16415830 16415830 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr7:16415830C>T uc010ktx.2 - 3 571 c.571G>A c.(571-573)GTC>ATC p.V191I ISPD_uc010kty.2_Intron NM_001101426 NP_001094896 A4D126 ISPD_HUMAN notch1-induced protein isoform a 191 isoprenoid biosynthetic process nucleotidyltransferase activity ovary(1) 1 GATGGACTGACGACAGTAGAT 0.418 NA Multiple Myeloma(15;0.18) 13 24 0 0 0 0 CCDC129 223075 broad.mit.edu 37 7 31682803 31682803 + Missense_Mutation SNP G G C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr7:31682803G>C uc003tcj.1 + 11 2812 c.1819G>C c.(1819-1821)GAC>CAC p.D607H CCDC129_uc011kad.1_Missense_Mutation_p.D617H|CCDC129_uc003tci.1_Missense_Mutation_p.D458H|CCDC129_uc011kae.1_Missense_Mutation_p.D633H|CCDC129_uc003tck.1_Missense_Mutation_p.D515H NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 607 0 TCATACTCAAGACAAGTTCCT 0.493 NA 42 95 0 0 0 0 ZNF117 51351 broad.mit.edu 37 7 64438979 64438979 + Nonsense_Mutation SNP T T A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr7:64438979T>A uc003ttr.2 - 4 2255 c.970A>T c.(970-972)AAA>TAA p.K324* NM_015852 NP_056936 Q03924 ZN117_HUMAN zinc finger protein 117 324 C2H2-type 8. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 Lung NSC(55;0.0295)|all_lung(88;0.0691) TGAATTTTTTTATGGTCAGTA 0.353 NA 23 39 0 0 0 0 AUTS2 26053 broad.mit.edu 37 7 69064922 69064922 + Missense_Mutation SNP A A C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr7:69064922A>C uc003tvw.3 + 1 1026 c.283A>C c.(283-285)AGC>CGC p.S95R AUTS2_uc003tvv.3_Missense_Mutation_p.S95R|AUTS2_uc003tvx.3_Missense_Mutation_p.S95R NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 isoform 1 95 ovary(2)|central_nervous_system(1) 3 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) TGCCATGACCAGCTTTGTCAC 0.657 NA 8 25 0 0 0 0 CROT 54677 broad.mit.edu 37 7 87022283 87022283 + Missense_Mutation SNP G G T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr7:87022283G>T uc003uit.2 + 17 1863 c.1618G>T c.(1618-1620)GTT>TTT p.V540F CROT_uc003uiu.2_Missense_Mutation_p.V568F NM_021151 NP_066974 Q9UKG9 OCTC_HUMAN peroxisomal carnitine O-octanoyltransferase 540 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity ovary(2)|lung(1) 3 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) TGGAAATTTTGTTCTCTCAAC 0.383 NA 44 62 1.42e-22 1.82e-22 1 0 CUX1 1523 broad.mit.edu 37 7 101845472 101845472 + Silent SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr7:101845472C>A uc003uyx.3 + 18 2933 c.2895C>A c.(2893-2895)ATC>ATA p.I965I CUX1_uc003uys.3_Silent_p.I976I|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron NM_181552 NP_853530 P39880 CUX1_HUMAN cut-like homeobox 1 isoform a 965 CUT 2. negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 GCCAGAGAATCTTCGGGGAGA 0.562 NA 10 94 0.000442599 0.000490899 1 0 RELN 5649 broad.mit.edu 37 7 103123326 103123326 + Missense_Mutation SNP A A G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr7:103123326A>G uc003vca.2 - 63 10434 c.10274T>C c.(10273-10275)GTC>GCC p.V3425A RELN_uc010liz.2_Missense_Mutation_p.V3425A NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 3425 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TCACAGGACGACCTCCACATG 0.473 NA 19 62 0 0 0 0 RELN 5649 broad.mit.edu 37 7 103163863 103163863 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr7:103163863C>T uc003vca.2 - 47 7625 c.7465G>A c.(7465-7467)GGG>AGG p.G2489R RELN_uc010liz.2_Missense_Mutation_p.G2489R NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 2489 EGF-like 6. axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) ATGCATCTCCCATGGCCACTG 0.458 NA 42 63 0 0 0 0 CPA5 93979 broad.mit.edu 37 7 130008281 130008281 + Missense_Mutation SNP C C G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr7:130008281C>G uc010lmd.1 + 14 1774 c.1154C>G c.(1153-1155)GCC>GGC p.A385G CPA5_uc003vps.2_Missense_Mutation_p.A385G|CPA5_uc003vpt.2_Missense_Mutation_p.P357A|CPA5_uc010lme.1_Missense_Mutation_p.A385G|CPA5_uc003vpu.1_Missense_Mutation_p.A385G|uc003vpv.1_RNA NM_001127441 NP_001120913 Q8WXQ8 CBPA5_HUMAN carboxypeptidase A5 isoform 1 385 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 Melanoma(18;0.0435) GTCGACTGGGCCTATGACAGT 0.562 NA 4 116 0 0 0 0 WDR91 29062 broad.mit.edu 37 7 134878366 134878366 + Missense_Mutation SNP T T G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr7:134878366T>G uc003vsp.2 - 10 1516 c.1454A>C c.(1453-1455)AAT>ACT p.N485T WDR91_uc010lmq.2_Missense_Mutation_p.N74T|WDR91_uc010lmr.2_RNA NM_014149 NP_054868 A4D1P6 WDR91_HUMAN WD repeat domain 91 485 WD 2. breast(2)|ovary(1)|skin(1) 4 TTCACAGAGATTCTTCTTGGC 0.572 NA 9 24 0 0 0 0 GSTK1 373156 broad.mit.edu 37 7 142961250 142961250 + Missense_Mutation SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr7:142961250G>A uc003wci.2 + 2 229 c.144G>A c.(142-144)ATG>ATA p.M48I GSTK1_uc011ksy.1_Missense_Mutation_p.M48I|GSTK1_uc003wcj.2_Missense_Mutation_p.M48I|GSTK1_uc011ksz.1_Missense_Mutation_p.M48I NM_015917 NP_057001 Q9Y2Q3 GSTK1_HUMAN glutathione S-transferase kappa 1 isoform a 48 outer membrane-bounded periplasmic space|peroxisome glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity 0 Melanoma(164;0.059) Glutathione(DB00143) CAGGGATCATGAAAGACAGTG 0.567 NA 16 22 0 0 0 0 CSMD1 64478 broad.mit.edu 37 8 3059180 3059180 + Silent SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr8:3059180G>A uc011kwk.1 - 32 5445 c.5055C>T c.(5053-5055)ACC>ACT p.T1685T CSMD1_uc011kwj.1_Silent_p.T1077T|CSMD1_uc003wqe.2_Silent_p.T841T NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 1685 Extracellular (Potential).|CUB 10. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CCTGTGCATGGGTTCCATCAA 0.438 NA 7 11 0 0 0 0 CLDN23 137075 broad.mit.edu 37 8 8560453 8560453 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr8:8560453C>T uc003wsi.2 + 1 788 c.545C>T c.(544-546)GCG>GTG p.A182V NM_194284 NP_919260 Q96B33 CLD23_HUMAN claudin 23 182 Cytoplasmic (Potential). calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity 0 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238) CTCAGCTTCGCGCCCTGGTGC 0.726 NA 13 15 0 0 0 0 NEFM 4741 broad.mit.edu 37 8 24772151 24772151 + Missense_Mutation SNP A A G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr8:24772151A>G uc003xed.3 + 1 878 c.845A>G c.(844-846)GAC>GGC p.D282G NEFM_uc011lac.1_Missense_Mutation_p.D282G|NEFM_uc010lue.2_5'Flank|uc010luc.1_5'UTR NM_005382 NP_005373 P07197 NFM_HUMAN neurofilament, medium polypeptide 150kDa isoform 282 Rod.|Coil 2A. neurofilament protein binding|structural constituent of cytoskeleton breast(1) 1 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) AGCCACTCAGACCAGAATATG 0.587 NA 9 72 0 0 0 0 SCARA5 286133 broad.mit.edu 37 8 27779108 27779108 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr8:27779108C>T uc003xgj.2 - 4 1336 c.896G>A c.(895-897)CGG>CAG p.R299Q SCARA5_uc010luz.2_Intron|SCARA5_uc003xgk.2_Missense_Mutation_p.R256Q|SCARA5_uc003xgl.2_Missense_Mutation_p.R299Q NM_173833 NP_776194 Q6ZMJ2 SCAR5_HUMAN scavenger receptor class A, member 5 299 Extracellular (Potential). cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization integral to plasma membrane ferritin receptor activity|scavenger receptor activity central_nervous_system(1)|skin(1) 2 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228) GGAGATGTTCCGCAGTGCGAT 0.537 NA 10 37 0 0 0 0 ZNF704 619279 broad.mit.edu 37 8 81553638 81553638 + Missense_Mutation SNP C C G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr8:81553638C>G uc003yby.1 - 9 1434 c.1202G>C c.(1201-1203)TGC>TCC p.C401S NM_001033723 NP_001028895 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 401 intracellular zinc ion binding 0 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) CTTCCAGCGGCAGGCGGTACA 0.627 NA 4 19 0 0 0 0 MATN2 4147 broad.mit.edu 37 8 99015907 99015907 + Missense_Mutation SNP T T A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr8:99015907T>A uc003yic.2 + 8 1454 c.1223T>A c.(1222-1224)CTG>CAG p.L408Q MATN2_uc003yib.1_Missense_Mutation_p.L408Q|MATN2_uc010mbh.1_Missense_Mutation_p.L367Q|MATN2_uc003yid.2_Missense_Mutation_p.L408Q|MATN2_uc003yie.1_Missense_Mutation_p.L408Q|MATN2_uc010mbi.1_Missense_Mutation_p.L241Q NM_002380 NP_002371 O00339 MATN2_HUMAN matrilin 2 isoform a precursor 408 EGF-like 5. proteinaceous extracellular matrix calcium ion binding ovary(2) 2 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) TACTGTGCACTGAACAAACCG 0.597 NA 9 75 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113657362 113657362 + Missense_Mutation SNP T T A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr8:113657362T>A uc003ynu.2 - 20 3445 c.3286A>T c.(3286-3288)ACT>TCT p.T1096S CSMD3_uc003yns.2_Missense_Mutation_p.T368S|CSMD3_uc003ynt.2_Missense_Mutation_p.T1056S|CSMD3_uc011lhx.1_Missense_Mutation_p.T992S NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1096 Extracellular (Potential).|CUB 6. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 ACATCAACAGTCCATGTACAA 0.353 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 11 42 0 0 0 0 KCNK9 51305 broad.mit.edu 37 8 140631071 140631071 + Missense_Mutation SNP G G C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr8:140631071G>C uc003yvf.1 - 2 619 c.555C>G c.(553-555)AGC>AGG p.S185R KCNK9_uc003yvg.1_Missense_Mutation_p.S185R|KCNK9_uc003yve.1_RNA NM_016601 NP_057685 Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 185 Extracellular (Potential). integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity ovary(2)|lung(1) 3 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) CGTGGAAGAAGCTCCACTCCT 0.592 NA 19 41 0 0 0 0 DNAI1 27019 broad.mit.edu 37 9 34506628 34506628 + Missense_Mutation SNP A A G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr9:34506628A>G uc003zum.2 + 13 1260 c.1067A>G c.(1066-1068)GAC>GGC p.D356G NM_012144 NP_036276 Q9UI46 DNAI1_HUMAN dynein, axonemal, intermediate chain 1 356 cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity 0 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) TGGGTAGATGACTTCATGAAG 0.607 NA Kartagener_syndrome 10 58 0 0 0 0 VCP 7415 broad.mit.edu 37 9 35060329 35060329 + Missense_Mutation SNP A A C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr9:35060329A>C uc003zvy.2 - 13 2065 c.1676T>G c.(1675-1677)GTC>GGC p.V559G VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_Missense_Mutation_p.V228G|VCP_uc010mki.1_Missense_Mutation_p.V514G NM_007126 NP_009057 P55072 TERA_HUMAN valosin-containing protein 559 activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding upper_aerodigestive_tract(1) 1 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GATTTCTCTGACATTGGCCTC 0.458 NA 19 26 0 0 0 0 SHB 6461 broad.mit.edu 37 9 38016101 38016101 + Missense_Mutation SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr9:38016101G>A uc004aax.2 - 2 1313 c.745C>T c.(745-747)CCC>TCC p.P249S NM_003028 NP_003019 Q15464 SHB_HUMAN Src homology 2 domain containing adaptor protein 249 Mediates interaction with LAT, FAK1, JAK1 and JAK3. angiogenesis|apoptosis|cell differentiation|signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity central_nervous_system(2)|skin(1) 3 all_epithelial(88;0.122) GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658) GCATCAAAGGGATCTGAGTAG 0.502 NA 40 73 0 0 0 0 TMEM2 23670 broad.mit.edu 37 9 74319658 74319658 + Missense_Mutation SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr9:74319658G>A uc011lsa.1 - 18 3587 c.3047C>T c.(3046-3048)CCG>CTG p.P1016L TMEM2_uc011lrz.1_Missense_Mutation_p.P9L|TMEM2_uc010mos.2_Missense_Mutation_p.P953L|TMEM2_uc011lsb.1_RNA NM_013390 NP_037522 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 isoform a 1016 integral to membrane ovary(2) 2 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) AGGGTTGGACGGATACTCATC 0.438 NA 20 28 0 0 0 0 FAM75C1 441452 broad.mit.edu 37 9 90538237 90538237 + Missense_Mutation SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr9:90538237G>A uc010mqi.2 + 4 3444 c.3415G>A c.(3415-3417)GAT>AAT p.D1139N FAM75C1_uc004apq.3_Missense_Mutation_p.D1122N NM_001145124 NP_001138596 family with sequence similarity 75, member C1 0 ACAAATCAGAGATCAGCAGCC 0.527 NA 51 190 0 0 0 0 C9orf102 375748 broad.mit.edu 37 9 98678056 98678056 + Missense_Mutation SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr9:98678056C>T uc004avt.3 + 5 1316 c.928C>T c.(928-930)CTC>TTC p.L310F C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Missense_Mutation_p.L12F|C9orf102_uc010mry.1_Missense_Mutation_p.L12F|C9orf102_uc010mrz.2_Missense_Mutation_p.L121F NM_001010895 NP_001010895 Q5T890 RAD26_HUMAN RAD26L hypothetical protein 310 Helicase ATP-binding. DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding 0 Acute lymphoblastic leukemia(62;0.0559) CCGCATTGGCCTCACTGGAAC 0.383 NA 12 36 0 0 0 0 ACTL7B 10880 broad.mit.edu 37 9 111617533 111617533 + Silent SNP C C T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr9:111617533C>T uc004bdi.2 - 1 743 c.678G>A c.(676-678)GGG>GGA p.G226G NM_006686 NP_006677 Q9Y614 ACL7B_HUMAN actin-like 7B 226 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton pancreas(1) 1 TGAGGTCACCCCCAGCGTAGT 0.647 NA 13 47 0 0 0 0 SVEP1 79987 broad.mit.edu 37 9 113169571 113169571 + Missense_Mutation SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr9:113169571C>A uc010mtz.2 - 38 8646 c.8309G>T c.(8308-8310)TGT>TTT p.C2770F SVEP1_uc010mty.2_Missense_Mutation_p.C696F NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 2770 Sushi 22. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 AATGGCTTCACAGCGTGGGGA 0.468 NA 9 106 2.18e-05 2.48e-05 1 0 C9orf171 389799 broad.mit.edu 37 9 135447890 135447890 + Missense_Mutation SNP A A C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr9:135447890A>C uc004cbn.2 + 7 1004 c.956A>C c.(955-957)CAC>CCC p.H319P C9orf171_uc004cbo.2_Missense_Mutation_p.H283P NM_207417 NP_997300 Q6ZQR2 CI171_HUMAN hypothetical protein LOC389799 319 ovary(4)|large_intestine(1) 5 AACTACACCCACCCCTAGCCC 0.597 NA 6 18 0 0 0 0 KDM6A 7403 broad.mit.edu 37 X 44942704 44942704 + Splice_Site SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chrX:44942704G>A uc004dge.3 + 23 3660 c.3285_splice c.e23-1 p.K1095_splice KDM6A_uc011mkz.1_Splice_Site_p.K1147_splice|KDM6A_uc011mla.1_Splice_Site_p.K1050_splice|KDM6A_uc011mlb.1_Splice_Site_p.K1102_splice|KDM6A_uc011mlc.1_Splice_Site_p.K799_splice|KDM6A_uc011mld.1_Splice_Site_p.K734_splice NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 TTTTATTGCAGGTGGAAGTTG 0.393 NA D|N|F|S renal|oesophageal SCC|MM 8 2 0 0 0 0 TAF1 6872 broad.mit.edu 37 X 70674608 70674608 + Silent SNP T T C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chrX:70674608T>C uc004dzu.3 + 34 4887 c.4836T>C c.(4834-4836)ACT>ACC p.T1612T BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Silent_p.T1633T|TAF1_uc004dzv.3_Silent_p.T786T|TAF1_uc010nld.1_RNA|TAF1_uc010nle.1_RNA|TAF1_uc010nlf.1_Silent_p.T37T|TAF1_uc004dzx.2_RNA|TAF1_uc004dzy.2_RNA|TAF1_uc004dzw.1_RNA NM_138923 NP_620278 P21675 TAF1_HUMAN TBP-associated factor 1 isoform 2 1612 Interaction with ASF1A and ASF1B.|Protein kinase 2. G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1) 17 Renal(35;0.156) all_lung(315;0.000321) AACATTTGACTCAACTTGAGA 0.318 NA 13 3 0 0 0 0 ARMCX5 64860 broad.mit.edu 37 X 101857289 101857289 + Missense_Mutation SNP A A T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chrX:101857289A>T uc004ejg.2 + 6 1101 c.220A>T c.(220-222)ACA>TCA p.T74S ARMCX5_uc004ejh.2_Missense_Mutation_p.T74S NM_022838 NP_073749 Q6P1M9 ARMX5_HUMAN armadillo repeat containing, X-linked 5 74 binding ovary(1) 1 TATGGCTGTGACAAGGGAAGT 0.483 NA 26 25 0 0 0 0 COL4A6 1288 broad.mit.edu 37 X 107413937 107413937 + Missense_Mutation SNP C C G TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chrX:107413937C>G uc004enw.3 - 35 3501 c.3398G>C c.(3397-3399)GGA>GCA p.G1133A COL4A6_uc004env.3_Missense_Mutation_p.G1132A|COL4A6_uc011msn.1_Missense_Mutation_p.G1132A|COL4A6_uc010npk.2_Missense_Mutation_p.G1132A NM_001847 NP_001838 Q14031 CO4A6_HUMAN type IV alpha 6 collagen isoform A precursor 1133 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding ovary(6)|urinary_tract(1)|large_intestine(1) 8 GCCGGCAACTCCTGGAAATCC 0.493 NA Alport_syndrome_with_Diffuse_Leiomyomatosis 21 78 0 0 0 0 GLUD2 2747 broad.mit.edu 37 X 120182629 120182629 + Missense_Mutation SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chrX:120182629C>A uc004eto.2 + 1 1168 c.1091C>A c.(1090-1092)GCA>GAA p.A364E NM_012084 NP_036216 P49448 DHE4_HUMAN glutamate dehydrogenase 2 precursor 364 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding pancreas(1) 1 L-Glutamic Acid(DB00142)|NADH(DB00157) TTCCCCAAGGCAAAGCCCTAT 0.493 NA 85 33 1.35e-34 1.76e-34 1 0 CELSR2 1952 broad.mit.edu 37 1 109795741 109795743 + In_Frame_Del DEL CTT CTT - rs115856488 byFrequency TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:109795741_109795743delCTT uc001dxa.3 + 1 3101_3103 c.3040_3042delCTT c.(3040-3042)CTTdel p.L1014del NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 1014 Extracellular (Potential).|Cadherin 8. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CGTCCGCCTCCTTGACCGCAATG 0.581 NA 27 73 --- --- --- --- NA NA NA NA CEPT1 10390 broad.mit.edu 37 1 111726202 111726203 + Frame_Shift_Del DEL TT TT - TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:111726202_111726203delTT uc001eah.1 + 8 1332_1333 c.1124_1125delTT c.(1123-1125)ATTfs p.I375fs CEPT1_uc001eai.1_Frame_Shift_Del_p.I375fs|CEPT1_uc001eaj.1_Frame_Shift_Del_p.I375fs|CEPT1_uc009wfz.1_Frame_Shift_Del_p.I109fs NM_001007794 NP_001007795 Q9Y6K0 CEPT1_HUMAN choline/ethanolaminephosphotransferase 375 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane|nuclear membrane diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding 0 all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359) Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141) Choline(DB00122) GTACTTTGGATTGCCCTGGTAA 0.361 NA 25 78 --- --- --- --- NA NA NA NA TNR 7143 broad.mit.edu 37 1 175372692 175372692 + Frame_Shift_Del DEL C C - TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr1:175372692delC uc001gkp.1 - 2 641 c.560delG c.(559-561)GGCfs p.G187fs TNR_uc009wwu.1_Frame_Shift_Del_p.G187fs|TNR_uc010pmz.1_Frame_Shift_Del_p.G187fs NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 187 Cys-rich. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) GCAGATGCAGCCACAGGACTC 0.577 NA 20 128 --- --- --- --- NA NA NA NA PEX16 9409 broad.mit.edu 37 11 45937775 45937776 + Splice_Site INS - - A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr11:45937775_45937776insA uc001nbu.2 - 3 537 c.225_splice c.e3+1 p.V75_splice PEX16_uc001nbt.2_Splice_Site_p.V75_splice NM_004813 NP_004804 Q9Y5Y5 PEX16_HUMAN peroxisomal biogenesis factor 16 isoform 1 ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane endoplasmic reticulum membrane|integral to peroxisomal membrane protein C-terminus binding ovary(2)|skin(1) 3 GBM - Glioblastoma multiforme(35;0.223) GCAGAATTCTCACCACAGGCAA 0.52 NA 34 218 --- --- --- --- NA NA NA NA FRY 10129 broad.mit.edu 37 13 32798467 32798468 + Frame_Shift_Ins INS - - C TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr13:32798467_32798468insC uc001utx.2 + 37 5357_5358 c.4861_4862insC c.(4861-4863)GCCfs p.A1621fs FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 1621 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) AGGATGCTGGGCCCCCCTGGTT 0.569 NA 41 54 --- --- --- --- NA NA NA NA RASA3 22821 broad.mit.edu 37 13 114839224 114839225 + Frame_Shift_Ins INS - - A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr13:114839224_114839225insA uc001vui.2 - 2 274_275 c.143_144insT c.(142-144)TTCfs p.F48fs RASA3_uc010tkk.1_Frame_Shift_Ins_p.F16fs|RASA3_uc001vuj.2_5'UTR|RASA3_uc010tkl.1_RNA NM_007368 NP_031394 Q14644 RASA3_HUMAN RAS p21 protein activator 3 48 C2 1. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity lung(3)|skin(1) 4 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) TTTTGGTCCTGAAAACCTCCTC 0.465 NA 28 82 --- --- --- --- NA NA NA NA SPG11 80208 broad.mit.edu 37 15 44941194 44941195 + Frame_Shift_Del DEL AG AG - TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr15:44941194_44941195delAG uc001ztx.2 - 7 1502_1503 c.1471_1472delCT c.(1471-1473)CTGfs p.L491fs SPG11_uc010ueh.1_Frame_Shift_Del_p.L491fs|SPG11_uc010uei.1_Frame_Shift_Del_p.L491fs|SPG11_uc001zua.1_Frame_Shift_Del_p.L491fs NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN spatacsin isoform 1 491 Extracellular (Potential). cell death cytosol|integral to membrane|nucleus protein binding ovary(4)|skin(1) 5 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) AAACAAAATCAGAGAGAGTCCA 0.337 NA 12 21 --- --- --- --- NA NA NA NA PDPK1 5170 broad.mit.edu 37 16 2611896 2611899 + Frame_Shift_Del DEL CGAC CGAC - TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr16:2611896_2611899delCGAC uc002cqs.2 + 4 597_600 c.453_456delCGAC c.(451-456)GACGACfs p.D151fs PDPK1_uc002cqt.2_Intron|PDPK1_uc010bsn.2_Frame_Shift_Del_p.D151fs|PDPK1_uc002cqu.2_Frame_Shift_Del_p.D124fs|PDPK1_uc002cqv.1_Frame_Shift_Del_p.D124fs|PDPK1_uc010uwe.1_3'UTR|uc010bsp.1_3'UTR NM_002613 NP_002604 O15530 PDPK1_HUMAN 3-phosphoinositide dependent protein kinase-1 151_152 Protein kinase. actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway cytosol|nucleoplasm|plasma membrane 3-phosphoinositide-dependent protein kinase activity|ATP binding central_nervous_system(2)|ovary(1) 3 Ovarian(90;0.17) Celecoxib(DB00482) CATTTCAGGACGACGAGAAGCTGT 0.52 NA 2 4 --- --- --- --- NA NA NA NA G6PC 2538 broad.mit.edu 37 17 41056042 41056043 + Frame_Shift_Del DEL TG TG - TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr17:41056042_41056043delTG uc002icb.1 + 2 404_405 c.325_326delTG c.(325-327)TGTfs p.C109fs G6PC_uc010whf.1_Frame_Shift_Del_p.C111fs NM_000151 NP_000142 P35575 G6PC_HUMAN glucose-6-phosphatase, catalytic subunit 109 Lumenal (Potential). gluconeogenesis|glucose homeostasis|transmembrane transport integral to endoplasmic reticulum membrane glucose-6-phosphatase activity|phosphate binding ovary(1)|breast(1)|kidney(1)|skin(1) 4 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.113) CCCTGTAACCTGTGAGACTGGA 0.515 NA Glycogen_Storage_Disease_type_Ia 34 66 --- --- --- --- NA NA NA NA PAX1 5075 broad.mit.edu 37 20 21695398 21695398 + Frame_Shift_Del DEL T T - TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr20:21695398delT uc002wsj.2 + 5 1616 c.1562delT c.(1561-1563)CTTfs p.L521fs PAX1_uc010zsl.1_3'UTR|PAX1_uc010zsm.1_3'UTR NM_006192 NP_006183 P15863 PAX1_HUMAN paired box 1 521 regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding upper_aerodigestive_tract(1)|kidney(1) 2 CCACACTTCCTTTATTGGTCT 0.637 NA 15 44 --- --- --- --- NA NA NA NA RIPK4 54101 broad.mit.edu 37 21 43166897 43166898 + Frame_Shift_Ins INS - - A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr21:43166897_43166898insA uc002yzn.1 - 5 755_756 c.707_708insT c.(706-708)GTGfs p.V236fs NM_020639 NP_065690 P57078 RIPK4_HUMAN ankyrin repeat domain 3 236 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1) 7 GGCCCTTCACCACCTTCACCAT 0.663 NA 16 149 --- --- --- --- NA NA NA NA MST1 4485 broad.mit.edu 37 3 49723322 49723327 + In_Frame_Del DEL GCGCTG GCGCTG - TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr3:49723322_49723327delGCGCTG uc003cxg.2 - 10 1288_1293 c.1216_1221delCAGCGC c.(1216-1221)CAGCGCdel p.QR406del MST1_uc011bcs.1_In_Frame_Del_p.444_446ASA>A NM_020998 NP_066278 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth 392_393 Kringle 4. proteolysis extracellular region serine-type endopeptidase activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CAGCGGACCAGCGCTGGCACTGGACA 0.704 NA 8 103 --- --- --- --- NA NA NA NA POU4F2 5458 broad.mit.edu 37 4 147560457 147560458 + In_Frame_Ins INS - - GGC rs67907220 TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr4:147560457_147560458insGGC uc003ikv.2 + 1 413_414 c.165_166insGGC c.(163-168)insGGC p.68_69insG NM_004575 NP_004566 Q12837 PO4F2_HUMAN Brn3b POU domain transcription factor 68_69 estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription breast(1) 1 all_hematologic(180;0.151) ACGCTggtggtggcggcggcgg 0.386 NA 8 11 --- --- --- --- NA NA NA NA CMBL 134147 broad.mit.edu 37 5 10286575 10286580 + In_Frame_Del DEL TTGTTT TTGTTT - TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr5:10286575_10286580delTTGTTT uc003jes.2 - 4 803_808 c.352_357delAAACAA c.(352-357)AAACAAdel p.KQ118del NM_138809 NP_620164 Q96DG6 CMBL_HUMAN carboxymethylenebutenolidase 118_119 cytosol hydrolase activity|protein binding skin(1) 1 CATGACACTGTTGTTTCAGATACTTC 0.422 NA 7 31 --- --- --- --- NA NA NA NA NSD1 64324 broad.mit.edu 37 5 176638656 176638662 + Frame_Shift_Del DEL AGTAAAG AGTAAAG - TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr5:176638656_176638662delAGTAAAG uc003mfr.3 + 5 3394_3400 c.3256_3262delAGTAAAG c.(3256-3264)AGTAAAGAGfs p.S1086fs NSD1_uc003mft.3_Frame_Shift_Del_p.S817fs|NSD1_uc003mfs.1_Frame_Shift_Del_p.S983fs|NSD1_uc011dfx.1_Frame_Shift_Del_p.S734fs NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1086_1088 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) AGAAGATCCTAGTAAAGAGGATCCCCT 0.449 NA T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 66 24 --- --- --- --- NA NA NA NA TRPS1 7227 broad.mit.edu 37 8 116616583 116616584 + Frame_Shift_Ins INS - - A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d501a7e5-70e7-4f80-851a-efe8859d603a 38151a65-170a-475a-8862-3e2ba2d158da g.chr8:116616583_116616584insA uc003ynz.2 - 3 2032_2033 c.1573_1574insT c.(1573-1575)TGTfs p.C525fs TRPS1_uc011lhy.1_Frame_Shift_Ins_p.C529fs|TRPS1_uc003yny.2_Frame_Shift_Ins_p.C538fs|TRPS1_uc010mcy.2_Frame_Shift_Ins_p.C525fs NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 525 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) ACAGAACTGACAATTATAGCTC 0.46 NA Langer-Giedion_syndrome 130 65 --- --- --- --- NA NA NA NA