Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample CHD5 26038 broad.mit.edu 37 1 6219573 6219573 + Silent SNP C C T TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr1:6219573C>T uc001amb.1 - 3 310 c.210G>A c.(208-210)GGG>GGA p.G70G NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 70 Lys-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 12 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) CATCATTGCTCCCCTGGAAAA 0.507 NaN 0 0 0 0.038147 0 6 7 TNFRSF25 8718 broad.mit.edu 37 1 6521714 6521714 + Missense_Mutation SNP C C T TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr1:6521714C>T uc001ane.2 - 10 1122 c.1034G>A c.(1033-1035)CGG>CAG p.R345Q TNFRSF25_uc001ana.2_Missense_Mutation_p.R162Q|TNFRSF25_uc001anb.2_RNA|TNFRSF25_uc001anc.2_RNA|TNFRSF25_uc001and.2_Missense_Mutation_p.R118Q|TNFRSF25_uc009vlz.2_RNA|TNFRSF25_uc001anf.2_Missense_Mutation_p.R308Q|TNFRSF25_uc001ang.2_Missense_Mutation_p.R300Q|TNFRSF25_uc001anh.2_Missense_Mutation_p.R354Q NM_003790 NP_003781 Q93038 TNR25_HUMAN tumor necrosis factor receptor superfamily, 345 Death.|Cytoplasmic (Potential). apoptosis|induction of apoptosis by extracellular signals cytosol|extracellular region|integral to plasma membrane tumor necrosis factor receptor activity central_nervous_system(2)|breast(1) 3 Ovarian(185;0.0386)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419) CTTCCAGCGCCGCGCTGGGAC 0.692 NaN 0 0 0 0.115264 0 3 12 RERE 473 broad.mit.edu 37 1 8418613 8418613 + Missense_Mutation SNP C C T TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr1:8418613C>T uc001ape.2 - 21 4792 c.3982G>A c.(3982-3984)GAG>AAG p.E1328K RERE_uc001apf.2_Missense_Mutation_p.E1328K|RERE_uc001apd.2_Missense_Mutation_p.E774K NM_012102 NP_036234 Q9P2R6 RERE_HUMAN atrophin-1 like protein isoform a 1328 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) GGCTTCACCTCGAAGCCCGGC 0.721 NaN 0 0 0 0.043863 0 17 8 ARID1A 8289 broad.mit.edu 37 1 27087417 27087417 + Nonsense_Mutation SNP C C G TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr1:27087417C>G uc001bmv.1 + 5 2364 c.1991C>G c.(1990-1992)TCA>TGA p.S664* ARID1A_uc001bmt.1_Nonsense_Mutation_p.S664*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.S664*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.S281* NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 664 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.S664*(1) ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GTGAGCACATCAGGGATTTCC 0.517 NaN Mis|N|F|S|D clear cell ovarian carcinoma|RCC 0 0 0 0.139131 0 74 86 PPCS 79717 broad.mit.edu 37 1 42925522 42925522 + Silent SNP A A G TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr1:42925522A>G uc001chl.2 + 3 925 c.861A>G c.(859-861)AAA>AAG p.K287K PPCS_uc001chk.2_Silent_p.K114K NM_024664 NP_078940 Q9HAB8 PPCS_HUMAN phosphopantothenoylcysteine synthetase isoform 287 coenzyme biosynthetic process|pantothenate metabolic process cytosol phosphopantothenate--cysteine ligase activity 0 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) AAATAGAAAAAGGCGTAGAGA 0.388 NaN 0 0 0 0.115264 0 3 93 MYSM1 114803 broad.mit.edu 37 1 59127114 59127114 + Missense_Mutation SNP G G T TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr1:59127114G>T uc009wab.1 - 18 2257 c.2234C>A c.(2233-2235)ACA>AAA p.T745K uc001cza.2_5'Flank|MYSM1_uc009waa.1_Missense_Mutation_p.T151K|MYSM1_uc001czc.2_RNA NM_001085487 NP_001078956 Q5VVJ2 MYSM1_HUMAN Myb-like, SWIRM and MPN domains 1 745 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin remodeling complex DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(1) 1 all_cancers(7;9.36e-06) TATCCATCTTGTCTTTTCAAA 0.373 NaN 1 0 0.00909568 0.150653 0.00923144 3 56 PTGFR 5737 broad.mit.edu 37 1 78958573 78958573 + Missense_Mutation SNP G G A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr1:78958573G>A uc001din.2 + 2 411 c.145G>A c.(145-147)GCC>ACC p.A49T PTGFR_uc001dim.2_Missense_Mutation_p.A49T NM_000959 NP_000950 P43088 PF2R_HUMAN prostaglandin F receptor isoform a precursor 49 Helical; Name=1; (Potential). parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity ovary(3)|breast(2)|skin(1) 6 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) CCTTGCCATCGCCATTCTCAT 0.448 NaN 0 0 0 0.139131 0 61 49 S1PR1 1901 broad.mit.edu 37 1 101705632 101705632 + Silent SNP C C T TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr1:101705632C>T uc001dud.2 + 2 1606 c.1092C>T c.(1090-1092)GAC>GAT p.D364D S1PR1_uc009weg.2_Silent_p.D364D NM_001400 NP_001391 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 364 Cytoplasmic (By similarity). cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity ovary(2)|lung(1) 3 CCCAGAAAGACGAAGGGGACA 0.547 NaN 0 0 0 0.163468 0 29 55 SNX27 81609 broad.mit.edu 37 1 151640977 151640977 + Missense_Mutation SNP C C T TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr1:151640977C>T uc001eyn.1 + 7 1031 c.1015C>T c.(1015-1017)CAC>TAC p.H339Y SNX27_uc001eyo.2_Missense_Mutation_p.H246Y|SNX27_uc001eyp.2_Missense_Mutation_p.H153Y NM_030918 NP_112180 Q96L92 SNX27_HUMAN sorting nexin family member 27 339 Ras-associating. cell communication|protein transport|signal transduction cytosol|early endosome phosphatidylinositol binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) TGAGTTTCCTCACAAACTCTA 0.363 NaN 0 0 0 0.163468 0 25 185 HRNR 388697 broad.mit.edu 37 1 152188034 152188034 + Missense_Mutation SNP C C G TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr1:152188034C>G uc001ezt.1 - 3 6147 c.6071G>C c.(6070-6072)GGA>GCA p.G2024A NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2024 22. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CGATGACTGTCCTGATGCAGA 0.562 NaN 0 0 0 0.139131 0 84 269 FLG 2312 broad.mit.edu 37 1 152277090 152277090 + Silent SNP G G A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr1:152277090G>A uc001ezu.1 - 3 10308 c.10272C>T c.(10270-10272)CAC>CAT p.H3424H NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3424 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGGACGCTGAGTGCCTGGAGC 0.597 NaN Ichthyosis 0 0 0 0.139131 0 249 349 FLG 2312 broad.mit.edu 37 1 152283897 152283897 + Silent SNP G G A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr1:152283897G>A uc001ezu.1 - 3 3501 c.3465C>T c.(3463-3465)CAC>CAT p.H1155H uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1155 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGGACGCTGAGTGCCTGGAGC 0.597 NaN Ichthyosis 0 0 0 0.139131 0 15 616 C1orf129 80133 broad.mit.edu 37 1 170961422 170961422 + Silent SNP G G A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr1:170961422G>A uc001ghg.2 + 12 1276 c.1146G>A c.(1144-1146)ACG>ACA p.T382T C1orf129_uc009wvy.2_Silent_p.T189T|C1orf129_uc010plz.1_Silent_p.T382T NM_025063 NP_079339 Q5TGP6 CA129_HUMAN hypothetical protein LOC80133 isoform 2 382 binding pancreas(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) ACACCGTAACGGAAGGGAAAC 0.473 NaN 0 0 0 0.108266 0 23 118 SYT14 255928 broad.mit.edu 37 1 210334177 210334177 + Silent SNP T T C TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr1:210334177T>C uc009xcv.2 + 8 1530 c.1458T>C c.(1456-1458)ACT>ACC p.T486T SYT14_uc001hhs.3_Silent_p.T550T|SYT14_uc001hht.3_Silent_p.T505T|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Silent_p.T531T|SYT14_uc010pso.1_Silent_p.T448T|SYT14_uc010psp.1_Silent_p.T24T NM_153262 NP_694994 Q8NB59 SYT14_HUMAN synaptotagmin XIV isoform 4 486 Cytoplasmic (Potential).|C2 2. integral to membrane ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.085) ATAAGGAAACTTTTGTCTTTC 0.408 NaN 0 0 0 0.139131 0 73 12 KLF6 1316 broad.mit.edu 37 10 3823885 3823885 + Silent SNP C C T TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr10:3823885C>T uc001iha.2 - 2 891 c.624G>A c.(622-624)AGG>AGA p.R208R KLF6_uc010qaj.1_Silent_p.R208R|KLF6_uc010qak.1_Intron|KLF6_uc010qal.1_Intron|KLF6_uc001ihb.2_Silent_p.R208R NM_001300 NP_001291 Q99612 KLF6_HUMAN Kruppel-like factor 6 isoform A 208 C2H2-type 1. B cell differentiation nucleus zinc ion binding central_nervous_system(3)|lung(1) 4 Colorectal(1;0.238) TGTAAACTTTCCTGCAGCCGT 0.657 NaN OREG0019980 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.150653 0 4 56 KLF6 1316 broad.mit.edu 37 10 3824277 3824277 + Nonsense_Mutation SNP C C A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr10:3824277C>A uc001iha.2 - 2 499 c.232G>T c.(232-234)GAA>TAA p.E78* KLF6_uc010qaj.1_Nonsense_Mutation_p.E78*|KLF6_uc010qak.1_RNA|KLF6_uc010qal.1_Nonsense_Mutation_p.E78*|KLF6_uc001ihb.2_Nonsense_Mutation_p.E78* NM_001300 NP_001291 Q99612 KLF6_HUMAN Kruppel-like factor 6 isoform A 78 B cell differentiation nucleus zinc ion binding central_nervous_system(3)|lung(1) 4 Colorectal(1;0.238) ATCTTCAGTTCGGATTCCTCC 0.483 NaN OREG0019980 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 0.00278032 0.076483 0.00288644 23 159 ERCC6 2074 broad.mit.edu 37 10 50669504 50669504 + Missense_Mutation SNP C C T TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr10:50669504C>T uc001jhs.3 - 19 4031 c.3877G>A c.(3877-3879)GCC>ACC p.A1293T ERCC6_uc009xod.2_Missense_Mutation_p.A453T|ERCC6_uc010qgr.1_Missense_Mutation_p.A663T|ERCC6_uc001jhr.3_Missense_Mutation_p.A661T NM_000124 NP_000115 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent 1293 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 GCTTTCAGGGCATCCTGGGCC 0.592 NaN Direct_reversal_of_damage|NER 0 0 0 0.069288 0 21 28 SH2D4B 387694 broad.mit.edu 37 10 82403797 82403797 + Missense_Mutation SNP G G A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr10:82403797G>A uc001kck.1 + 7 1464 c.1034G>A c.(1033-1035)CGG>CAG p.R345Q SH2D4B_uc001kcl.1_Missense_Mutation_p.R297Q|SH2D4B_uc001kcm.1_Missense_Mutation_p.G166R|SH2D4B_uc001kcn.1_RNA NM_207372 NP_997255 Q5SQS7 SH24B_HUMAN SH2 domain containing 4B isoform 1 Error:Variant_position_missing_in_Q5SQS7_after_alignment 0 Colorectal(32;0.229) GGAACCCTGCGGACAGAGGGA 0.373 NaN 0 0 0 0.062417 0 14 59 NRG3 10718 broad.mit.edu 37 10 84498404 84498404 + Missense_Mutation SNP C C T TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr10:84498404C>T uc001kco.2 + 3 1052 c.1025C>T c.(1024-1026)CCA>CTA p.P342L NRG3_uc010qlz.1_Missense_Mutation_p.P342L|NRG3_uc001kcp.2_Missense_Mutation_p.P121L|NRG3_uc001kcq.2_5'UTR NM_001010848 NP_001010848 P56975 NRG3_HUMAN neuregulin 3 isoform 1 342 Extracellular (Potential). regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity lung(5)|breast(1) 6 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) TTATCGGATCCAAGTAGGTCA 0.393 NaN 0 0 0 0.014758 0 4 44 PIK3AP1 118788 broad.mit.edu 37 10 98411088 98411088 + Missense_Mutation SNP G G C TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr10:98411088G>C uc001kmq.2 - 6 1033 c.905C>G c.(904-906)ACC>AGC p.T302S PIK3AP1_uc001kmp.2_Missense_Mutation_p.T124S NM_152309 NP_689522 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 302 DBB. cytoplasm|plasma membrane upper_aerodigestive_tract(3)|ovary(1)|skin(1) 5 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) CAGGGATTCGGTTAGCAGTTT 0.428 NaN 0 0 0 0.160694 0 16 36 RRP12 23223 broad.mit.edu 37 10 99133483 99133483 + Silent SNP G G A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr10:99133483G>A uc001knf.2 - 17 2014 c.1875C>T c.(1873-1875)CTC>CTT p.L625L RRP12_uc009xvl.2_5'UTR|RRP12_uc009xvm.2_Silent_p.L343L|RRP12_uc010qou.1_Silent_p.L564L|RRP12_uc009xvn.2_Silent_p.L525L NM_015179 NP_055994 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog isoform 1 625 integral to membrane|nuclear membrane|nucleolus protein binding ovary(2)|central_nervous_system(1) 3 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) ACCCAGGCAGGAGTGTCCACA 0.622 NaN 0 0 0 0.080422 0 34 12 OR9Q2 219957 broad.mit.edu 37 11 57958327 57958327 + Missense_Mutation SNP G G A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr11:57958327G>A uc010rka.1 + 1 365 c.365G>A c.(364-366)CGC>CAC p.R122H NM_001005283 NP_001005283 Q8NGE9 OR9Q2_HUMAN olfactory receptor, family 9, subfamily Q, 122 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1)|central_nervous_system(1) 4 Breast(21;0.0589) GCCTATGACCGCTACACGGCC 0.567 NaN 0 0 0 0.139131 0 45 88 MPEG1 219972 broad.mit.edu 37 11 58980208 58980208 + Missense_Mutation SNP T T C TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr11:58980208T>C uc001nnu.3 - 1 287 c.131A>G c.(130-132)GAA>GGA p.E44G NM_001039396 NP_001034485 Q2M385 MPEG1_HUMAN macrophage expressed gene 1 precursor 44 MACPF.|Extracellular (Potential). integral to membrane ovary(1)|skin(1) 2 all_epithelial(135;0.125) AGGTAGGACTTCCAGGACAGG 0.522 NaN 0 0 0 0.014758 0 5 244 SCGB1D1 10648 broad.mit.edu 37 11 61959667 61959667 + Silent SNP C C T TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr11:61959667C>T uc001nsz.1 + 2 242 c.195C>T c.(193-195)TGC>TGT p.C65C NM_006552 NP_006543 O95968 SG1D1_HUMAN lipophilin A precursor 65 extracellular space binding skin(1) 1 TGAAGAAATGCGTGGATACGA 0.443 NaN 0 0 0 0.139131 0 83 65 GANAB 23193 broad.mit.edu 37 11 62393905 62393905 + Silent SNP T T A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr11:62393905T>A uc001nub.2 - 22 2559 c.2526A>T c.(2524-2526)GGA>GGT p.G842G GANAB_uc001ntz.2_Silent_p.G29G|GANAB_uc001nua.2_Silent_p.G864G|GANAB_uc001nuc.2_Silent_p.G745G|GANAB_uc010rma.1_Silent_p.G750G|GANAB_uc010rmb.1_Silent_p.G728G NM_198334 NP_938148 Q14697 GANAB_HUMAN neutral alpha-glucosidase AB isoform 2 842 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 GAAAGAGCTCTCCTTGAGCTG 0.552 NaN 0 0 0 0.074837 0 29 79 PLCB3 5331 broad.mit.edu 37 11 64033975 64033975 + Missense_Mutation SNP C C A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr11:64033975C>A uc001nzb.2 + 29 3365 c.3365C>A c.(3364-3366)ACG>AAG p.T1122K PLCB3_uc009ypg.1_Missense_Mutation_p.T1122K|PLCB3_uc009yph.1_Missense_Mutation_p.T1055K|PLCB3_uc009ypi.2_Missense_Mutation_p.T1122K NM_000932 NP_000923 Q01970 PLCB3_HUMAN phospholipase C beta 3 1122 intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|pancreas(1) 2 AGGGAACTGACGGAGATTAAC 0.652 NaN 1 0 6.21321e-17 0.076483 7.10081e-17 20 90 KDELC2 143888 broad.mit.edu 37 11 108357060 108357060 + Missense_Mutation SNP A A G TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr11:108357060A>G uc001pkj.2 - 3 574 c.508T>C c.(508-510)TTT>CTT p.F170L KDELC2_uc001pki.2_Missense_Mutation_p.F114L NM_153705 NP_714916 Q7Z4H8 KDEL2_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 2 precursor 170 endoplasmic reticulum lumen ovary(1) 1 all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14) ATGCTGGGAAAGGAAGCAAAA 0.453 NaN 0 0 0 0.150653 0 4 63 ACRBP 84519 broad.mit.edu 37 12 6756060 6756060 + Missense_Mutation SNP C C A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr12:6756060C>A uc001qpu.1 - 2 210 c.162G>T c.(160-162)TGG>TGT p.W54C ACRBP_uc010sfg.1_Missense_Mutation_p.W54C NM_032489 NP_115878 Q8NEB7 ACRBP_HUMAN proacrosin binding protein sp32 precursor 54 acrosomal vesicle|extracellular region central_nervous_system(1) 1 TCTCTGCCTTCCAGGTTGGAG 0.602 NaN 1 0 0.00909568 0.150653 0.00923144 4 78 IFLTD1 160492 broad.mit.edu 37 12 25672949 25672949 + Missense_Mutation SNP C C T TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr12:25672949C>T uc001rgs.2 - 6 946 c.796G>A c.(796-798)GTT>ATT p.V266I IFLTD1_uc001rgt.1_Missense_Mutation_p.V169I|IFLTD1_uc010sji.1_Missense_Mutation_p.V287I|IFLTD1_uc010sjj.1_Missense_Mutation_p.V203I|IFLTD1_uc009zjc.2_Missense_Mutation_p.V247I NM_152590 NP_689803 Q8N9Z9 ILFT1_HUMAN intermediate filament tail domain containing 1 266 intermediate filament structural molecule activity ovary(2)|central_nervous_system(1) 3 all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847) TTAAATTCAACGTCAGCATCT 0.373 NaN 0 0 0 0.153744 0 29 34 PTHLH 5744 broad.mit.edu 37 12 28116292 28116292 + Silent SNP C C T TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr12:28116292C>T uc001rik.2 - 3 816 c.513G>A c.(511-513)GAG>GAA p.E171E PTHLH_uc001ril.2_Silent_p.E171E|PTHLH_uc001rim.2_Silent_p.E171E|PTHLH_uc001rin.2_Silent_p.E171E NM_198966 NP_945317 P12272 PTHR_HUMAN parathyroid hormone-like hormone isoform 1 171 activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation cytoplasm|extracellular space|nucleus hormone activity|peptide hormone receptor binding breast(1) 1 Lung SC(9;0.184) GTGAATCGAGCTCCAGCGACG 0.582 NaN 0 0 0 0.069288 0 17 33 MLL2 8085 broad.mit.edu 37 12 49424741 49424741 + Nonsense_Mutation SNP G G A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr12:49424741G>A uc001rta.3 - 40 13606 c.13606C>T c.(13606-13608)CGA>TGA p.R4536* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 4536 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 AGCTTCTTTCGGGAGCTCACC 0.592 NaN N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 0 0 0 0.058154 0 7 25 FAM19A2 338811 broad.mit.edu 37 12 62148677 62148677 + Nonsense_Mutation SNP G G A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr12:62148677G>A uc001sqw.2 - 3 1748 c.235C>T c.(235-237)CGA>TGA p.R79* FAM19A2_uc001sqv.2_RNA|FAM19A2_uc001sqx.2_Nonsense_Mutation_p.R79*|FAM19A2_uc001sqy.2_RNA NM_178539 NP_848634 Q8N3H0 F19A2_HUMAN family with sequence similarity 19 (chemokine 79 cytoplasm ovary(1) 1 GBM - Glioblastoma multiforme(1;0.00484) GBM - Glioblastoma multiforme(3;0.02) GGAGCAGCTCGCGTGGTGCCT 0.502 NaN 0 0 0 0.153744 0 25 17 POLR3B 55703 broad.mit.edu 37 12 106824210 106824210 + Missense_Mutation SNP C C A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr12:106824210C>A uc001tlp.2 + 14 1645 c.1423C>A c.(1423-1425)CAG>AAG p.Q475K POLR3B_uc001tlq.2_Missense_Mutation_p.Q417K NM_018082 NP_060552 Q9NW08 RPC2_HUMAN DNA-directed RNA polymerase III B isoform 1 475 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding ovary(1)|central_nervous_system(1) 2 CCAGCCATCTCAGTGGGGAAT 0.493 NaN 1 0 2.7689e-08 0.02938 3.01256e-08 4 114 CUX2 23316 broad.mit.edu 37 12 111786052 111786052 + Missense_Mutation SNP A A G TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr12:111786052A>G uc001tsa.1 + 22 4537 c.4384A>G c.(4384-4386)ATG>GTG p.M1462V NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 1462 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 GCATGAGAAGATGGCCAATCT 0.612 NaN 0 0 0 0.131918 0 39 220 DNAH10 196385 broad.mit.edu 37 12 124354930 124354930 + Missense_Mutation SNP T T C TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr12:124354930T>C uc001uft.3 + 43 7208 c.7183T>C c.(7183-7185)TAT>CAT p.Y2395H NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2395 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) TCCAACCTTGTATGACTTTCA 0.388 NaN 0 0 0 0.049695 0 20 21 POLR1D 51082 broad.mit.edu 37 13 28197152 28197152 + Missense_Mutation SNP G G C TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr13:28197152G>C uc010tdm.1 + 3 1197 c.167G>C c.(166-168)CGT>CCT p.R56P LNX2_uc001url.3_5'Flank|LNX2_uc001urm.1_5'Flank|POLR1D_uc010aam.2_Intron|POLR1D_uc001urq.2_Intron|POLR1D_uc001uro.2_Missense_Mutation_p.R56P|POLR1D_uc001urp.2_Intron NM_015972 NP_057056 Q9Y2S0 RPAC2_HUMAN polymerase (RNA) I polypeptide D isoform 1 56 R -> C (in TCS2). termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity 0 Lung SC(185;0.0161) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213) AATTCTCTACGTTACATGATC 0.453 NaN 0 0 0 0.049695 0 17 52 SLC7A1 6541 broad.mit.edu 37 13 30091860 30091860 + Missense_Mutation SNP C C T TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr13:30091860C>T uc001uso.2 - 10 1747 c.1360G>A c.(1360-1362)GAC>AAC p.D454N NM_003045 NP_003036 P30825 CTR1_HUMAN solute carrier family 7 (cationic amino acid 454 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|ion transport integral to plasma membrane receptor activity 0 Lung SC(185;0.0257)|Breast(139;0.238) all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) TCATTTTGGTCTGCTGGATCT 0.493 NaN 0 0 0 0.108266 0 24 85 BRCA2 675 broad.mit.edu 37 13 32910615 32910615 + Missense_Mutation SNP C C A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr13:32910615C>A uc001uub.1 + 11 2350 c.2123C>A c.(2122-2124)TCT>TAT p.S708Y NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 708 Interaction with NPM1. cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) GAAGCTGATTCTCTGTCATGC 0.358 NaN D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 1 0 3.86212e-05 0.069234 4.1035e-05 11 32 FGF14 2259 broad.mit.edu 37 13 103053996 103053996 + Silent SNP A A T TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr13:103053996A>T uc001vpf.2 - 1 129 c.33T>A c.(31-33)ACT>ACA p.T11T NM_175929 NP_787125 Q92915 FGF14_HUMAN fibroblast growth factor 14 isoform 1B Error:Variant_position_missing_in_Q92915_after_alignment cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction nucleus growth factor activity|heparin binding ovary(2)|lung(1)|large_intestine(1) 4 all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) ATTTGAAATCAGTTCTCCTGA 0.413 NaN 0 0 0 0.074837 0 30 3 PTGDR 5729 broad.mit.edu 37 14 52735003 52735003 + Missense_Mutation SNP C C A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr14:52735003C>A uc001wzq.2 + 1 573 c.471C>A c.(469-471)AGC>AGA p.S157R NM_000953 NP_000944 Q13258 PD2R_HUMAN prostaglandin D2 receptor 157 Helical; Name=4; (Potential). integral to membrane|plasma membrane prostaglandin D receptor activity|protein binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 Breast(41;0.0639)|all_epithelial(31;0.0887) Nedocromil(DB00716) CGGTGGTGAGCGCCTTCTCCC 0.637 NaN 1 0 0.00024832 0.150653 0.000259781 3 55 AHNAK2 113146 broad.mit.edu 37 14 105416701 105416701 + Missense_Mutation SNP G G T TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr14:105416701G>T uc010axc.1 - 7 5207 c.5087C>A c.(5086-5088)TCC>TAC p.S1696Y AHNAK2_uc001ypx.2_Missense_Mutation_p.S1596Y NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1696 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCCCTGCATGGAGGGGAGGCT 0.612 NaN 1 0 6.72482e-11 0.132662 7.55848e-11 7 272 OCA2 4948 broad.mit.edu 37 15 28231744 28231744 + Missense_Mutation SNP A A G TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr15:28231744A>G uc001zbh.3 - 12 1338 c.1228T>C c.(1228-1230)TGT>CGT p.C410R OCA2_uc010ayv.2_Missense_Mutation_p.C386R NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 410 Cytoplasmic (Potential). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) TTTACAGCACAATAATCGAAA 0.284 NaN Oculocutaneous_Albinism 0 0 0 0.139131 0 63 23 MYO5A 4644 broad.mit.edu 37 15 52662482 52662482 + Missense_Mutation SNP G G A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr15:52662482G>A uc002aby.2 - 22 3194 c.2950C>T c.(2950-2952)CGG>TGG p.R984W MYO5A_uc002abx.3_Missense_Mutation_p.R984W|MYO5A_uc010uge.1_Missense_Mutation_p.R853W NM_000259 NP_000250 Q9Y4I1 MYO5A_HUMAN myosin VA isoform 1 984 Potential. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|central_nervous_system(1) 4 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) CTAAGGACCCGCCCAGTGGCA 0.448 NaN 0 0 0 0.11126 0 41 7 CCDC78 124093 broad.mit.edu 37 16 775562 775562 + Missense_Mutation SNP G G A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr16:775562G>A uc002cjg.2 - 4 392 c.286C>T c.(286-288)CGG>TGG p.R96W CCDC78_uc002cjf.2_5'Flank|CCDC78_uc002cji.3_Missense_Mutation_p.R170W|CCDC78_uc002cjj.3_Intron|CCDC78_uc002cjh.2_5'UTR|CCDC78_uc010uuo.1_Missense_Mutation_p.R96W|CCDC78_uc002cjk.2_Missense_Mutation_p.R96W|HAGHL_uc002cjl.1_5'Flank|HAGHL_uc002cjm.1_5'Flank|HAGHL_uc002cjn.1_5'Flank|HAGHL_uc002cjo.1_5'Flank|HAGHL_uc010uup.1_5'Flank NM_001031737 NP_001026907 A2IDD5 CCD78_HUMAN coiled-coil domain containing 78 96 Potential. central_nervous_system(1) 1 Hepatocellular(780;0.0218) TCCAGTACCCGGCTCTCCAGC 0.662 NaN 0 0 0 0.080422 0 30 2 SH2B1 25970 broad.mit.edu 37 16 28877696 28877696 + Missense_Mutation SNP C C T TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr16:28877696C>T uc002dri.2 + 4 720 c.281C>T c.(280-282)CCC>CTC p.P94L uc010vct.1_Intron|SH2B1_uc010vdc.1_Intron|SH2B1_uc002drj.2_Missense_Mutation_p.P94L|SH2B1_uc002drk.2_Missense_Mutation_p.P94L|SH2B1_uc002drl.2_Missense_Mutation_p.P94L|SH2B1_uc010vdd.1_Intron|SH2B1_uc010vde.1_Missense_Mutation_p.P94L|SH2B1_uc002drm.2_Missense_Mutation_p.P94L NM_001145795 NP_001139267 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 isoform 1 94 Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity). blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity ovary(2) 2 ATCCTGGCTCCCCTGAGCCCT 0.652 NaN 0 0 0 0.160694 0 15 16 ATMIN 23300 broad.mit.edu 37 16 81078139 81078139 + Missense_Mutation SNP C C G TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr16:81078139C>G uc002ffz.1 + 4 2054 c.2036C>G c.(2035-2037)GCA>GGA p.A679G ATMIN_uc002fga.2_Missense_Mutation_p.A521G|ATMIN_uc010vnn.1_Missense_Mutation_p.A450G|ATMIN_uc002fgb.1_Missense_Mutation_p.A521G NM_015251 NP_056066 O43313 ATMIN_HUMAN ATM interactor 679 response to DNA damage stimulus nucleus zinc ion binding 0 TTCTTACTCGCAGATACCTCT 0.443 NaN 0 0 0 0.173368 0 33 141 OR3A1 4994 broad.mit.edu 37 17 3195282 3195282 + Missense_Mutation SNP C C T TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr17:3195282C>T uc002fvh.1 - 1 595 c.595G>A c.(595-597)GAG>AAG p.E199K NM_002550 NP_002541 P47881 OR3A1_HUMAN olfactory receptor, family 3, subfamily A, 199 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|central_nervous_system(1) 3 AGCAGCAGCTCATTGAGTTGG 0.522 NaN 0 0 0 0.021553 0 5 94 C17orf74 201243 broad.mit.edu 37 17 7329763 7329763 + Silent SNP C C T TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr17:7329763C>T uc002ggw.2 + 3 526 c.453C>T c.(451-453)ATC>ATT p.I151I FGF11_uc010vtw.1_Intron NM_175734 NP_783861 Q0P670 CQ074_HUMAN hypothetical protein LOC201243 151 integral to membrane 0 Prostate(122;0.157) ACAGACAAATCCCCCATAGCC 0.413 NaN 0 0 0 0.074837 0 36 27 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr17:7577121G>A uc002gim.2 - 8 1011 c.817C>T c.(817-819)CGT>TGT p.R273C TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation). 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.R273H(467)|p.R273C(396)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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) GCACAAACACGCACCTCAAAG 0.542 R273C(SH10TC_STOMACH)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(RH30_SOFT_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(SJRH30_SOFT_TISSUE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(TT2609C02_THYROID)|R273C(MFE319_ENDOMETRIUM)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(NCIH1048_LUNG)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 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) 0 0 0 0.043863 0 19 3 ATP6V0A1 535 broad.mit.edu 37 17 40660605 40660605 + Missense_Mutation SNP G G A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr17:40660605G>A uc002hzr.2 + 19 2295 c.2128G>A c.(2128-2130)GTG>ATG p.V710M ATP6V0A1_uc002hzq.2_Intron|ATP6V0A1_uc002hzs.2_Intron|ATP6V0A1_uc010wgj.1_Missense_Mutation_p.V667M|ATP6V0A1_uc010wgk.1_Intron|ATP6V0A1_uc010cyg.2_Missense_Mutation_p.V356M|ATP6V0A1_uc010wgl.1_Missense_Mutation_p.V569M|ATP6V0A1_uc002hzt.2_Intron NM_001130021 NP_001123493 Q93050 VPP1_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a1 710 Cytoplasmic (Potential). ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity pancreas(1) 1 all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254) BRCA - Breast invasive adenocarcinoma(366;0.137) CGAGGACGAAGTGGTAAGATG 0.517 NaN 0 0 0 0.139131 0 47 44 AOC3 8639 broad.mit.edu 37 17 41008400 41008400 + Missense_Mutation SNP A A C TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr17:41008400A>C uc002ibv.2 + 4 2285 c.2125A>C c.(2125-2127)AAC>CAC p.N709H NM_003734 NP_003725 Q16853 AOC3_HUMAN amine oxidase, copper containing 3 precursor 709 Extracellular (Potential). amine metabolic process|cell adhesion|inflammatory response cell surface|integral to membrane|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity central_nervous_system(2)|ovary(1)|skin(1) 4 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) Hydralazine(DB01275)|Phenelzine(DB00780) CCGACCCTATAACTTCTTTGA 0.572 NaN 0 0 0 0.09319 0 10 76 ZNF652 22834 broad.mit.edu 37 17 47388796 47388796 + Missense_Mutation SNP T T C TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr17:47388796T>C uc002iov.3 - 5 1651 c.1187A>G c.(1186-1188)TAC>TGC p.Y396C ZNF652_uc002iow.2_Missense_Mutation_p.Y396C|ZNF652_uc002iou.3_RNA NM_001145365 NP_001138837 Q9Y2D9 ZN652_HUMAN zinc finger protein 652 396 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17) BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05) CTGGTACTTGTACTGAAACCT 0.458 NaN 0 0 0 0.139131 0 106 160 NXPH3 11248 broad.mit.edu 37 17 47656111 47656111 + Missense_Mutation SNP G G A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr17:47656111G>A uc002ipa.2 + 2 492 c.208G>A c.(208-210)GCC>ACC p.A70T NXPH3_uc010wlw.1_Missense_Mutation_p.A70T NM_007225 NP_009156 O95157 NXPH3_HUMAN neurexophilin 3 precursor 70 II. neuropeptide signaling pathway extracellular region pancreas(1)|skin(1) 2 all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17) AGGGCTGCTGGCCCCGCCTGG 0.682 NaN 0 0 0 0.131918 0 40 48 GPR142 350383 broad.mit.edu 37 17 72363883 72363883 + Missense_Mutation SNP G G A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr17:72363883G>A uc010wqy.1 + 1 239 c.239G>A c.(238-240)CGC>CAC p.R80H GPR142_uc010wqx.1_5'UTR NM_181790 NP_861455 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 80 Extracellular (Potential). cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 AGCAGTTTCCGCCAGGTGAAT 0.562 NaN 0 0 0 0.125774 0 26 28 TCF4 6925 broad.mit.edu 37 18 53254339 53254339 + Silent SNP G G A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr18:53254339G>A uc002lfz.2 - 2 621 c.9C>T c.(7-9)CAC>CAT p.H3H TCF4_uc010xdx.1_5'Flank|TCF4_uc010dph.1_Silent_p.H3H|TCF4_uc010xdy.1_Intron|TCF4_uc002lga.2_Silent_p.H105H|TCF4_uc010dpi.2_Silent_p.H3H NM_003199 NP_003190 P15884 ITF2_HUMAN transcription factor 4 isoform b 3 Essential for MYOD1 inhibition (By similarity). positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|protein C-terminus binding|protein heterodimerization activity|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|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding ovary(1)|lung(1) 2 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) TTCGCTGTTGGTGATGCATTT 0.423 NaN 0 0 0 0.131918 0 37 14 TMPRSS9 360200 broad.mit.edu 37 19 2403105 2403105 + Silent SNP C C T TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr19:2403105C>T uc010xgx.1 + 5 480 c.480C>T c.(478-480)TCC>TCT p.S160S TMPRSS9_uc002lvv.1_Silent_p.S194S NM_182973 NP_892018 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 160 LDL-receptor class A.|Extracellular (Potential). proteolysis integral to plasma membrane serine-type endopeptidase activity ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACTCCTTTTCCTGCGGGAACA 0.572 NaN 0 0 0 0.160694 0 12 8 DIRAS1 148252 broad.mit.edu 37 19 2717599 2717599 + Missense_Mutation SNP G G A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr19:2717599G>A uc002lwf.3 - 2 364 c.206C>T c.(205-207)CCG>CTG p.P69L NM_145173 NP_660156 O95057 DIRA1_HUMAN DIRAS family, GTP-binding RAS-like 1 69 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTGCATGGCCGGGAACTGGTG 0.622 NaN 0 0 0 0.115264 0 3 38 MUC16 94025 broad.mit.edu 37 19 9061676 9061676 + Silent SNP C C T TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr19:9061676C>T uc002mkp.2 - 3 25974 c.25770G>A c.(25768-25770)GTG>GTA p.V8590V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 8592 Ser-rich.|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 GAAGTGCAGTCACAGGATGAG 0.507 NaN 0 0 0 0.099896 0 26 15 CNN1 1264 broad.mit.edu 37 19 11660528 11660528 + Missense_Mutation SNP A A C TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr19:11660528A>C uc002msc.1 + 7 976 c.812A>C c.(811-813)AAG>ACG p.K271T CNN1_uc010xmb.1_Missense_Mutation_p.K221T|CNN1_uc010xmc.1_Missense_Mutation_p.K221T NM_001299 NP_001290 P51911 CNN1_HUMAN calponin 1, basic, smooth muscle 271 actomyosin structure organization|regulation of smooth muscle contraction cytoskeleton actin binding|calmodulin binding 0 TACGACCCCAAGTACTGTCTG 0.622 NaN 0 0 0 0.132662 0 13 73 ZNF208 7757 broad.mit.edu 37 19 22155320 22155320 + Missense_Mutation SNP C C T TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr19:22155320C>T uc002nqp.2 - 5 2365 c.2216G>A c.(2215-2217)GGC>GAC p.G739D ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) AAAGGCTTTGCCACATTCTTT 0.373 NaN 0 0 0 0.160694 0 17 67 KIAA0355 9710 broad.mit.edu 37 19 34810899 34810899 + Missense_Mutation SNP T T C TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr19:34810899T>C uc002nvd.3 + 3 1442 c.583T>C c.(583-585)TCT>CCT p.S195P NM_014686 NP_055501 O15063 K0355_HUMAN hypothetical protein LOC9710 195 ovary(1) 1 Esophageal squamous(110;0.162) GGTGGCTCACTCTTGCTTTGC 0.532 NaN 0 0 0 0.150653 0 3 140 CYP2A13 1553 broad.mit.edu 37 19 41594393 41594393 + Missense_Mutation SNP T T G TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr19:41594393T>G uc002opt.2 + 1 26 c.17T>G c.(16-18)CTG>CGG p.L6R NM_000766 NP_000757 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, 6 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding ovary(2)|skin(1) 3 Clomipramine(DB01242)|Nicotine(DB00184) GCCTCAGGGCTGCTTCTGGTG 0.572 NaN 0 0 0 0.11911 0 11 32 CADM4 199731 broad.mit.edu 37 19 44129330 44129330 + Silent SNP G G A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr19:44129330G>A uc002oxc.1 - 7 877 c.828C>T c.(826-828)CTC>CTT p.L276L NM_145296 NP_660339 Q8NFZ8 CADM4_HUMAN cell adhesion molecule 4 precursor 276 Ig-like C2-type 2.|Extracellular (Potential). cell adhesion integral to membrane 0 Prostate(69;0.0199) CCGGCAGCGTGAGCGTCTCTC 0.607 NaN 0 0 0 0.0918 0 24 22 LTBP1 4052 broad.mit.edu 37 2 33359935 33359935 + Missense_Mutation SNP G G C TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr2:33359935G>C uc002ros.2 + 5 1109 c.1109G>C c.(1108-1110)TGT>TCT p.C370S LTBP1_uc002rot.2_Missense_Mutation_p.C44S|LTBP1_uc002rou.2_Missense_Mutation_p.C44S|LTBP1_uc002rov.2_Missense_Mutation_p.C44S|LTBP1_uc010ymz.1_Missense_Mutation_p.C44S|LTBP1_uc010yna.1_Missense_Mutation_p.C44S NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 370 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) AAGGGCAGCTGTCAGAACAGC 0.547 NaN 0 0 0 0.160694 0 16 58 AFF3 3899 broad.mit.edu 37 2 100623238 100623238 + Silent SNP C C T TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr2:100623238C>T uc002tag.2 - 6 965 c.729G>A c.(727-729)CAG>CAA p.Q243Q AFF3_uc002taf.2_Silent_p.Q268Q|AFF3_uc010fiq.1_Silent_p.Q243Q|AFF3_uc010yvr.1_Silent_p.Q397Q|AFF3_uc002tah.1_Silent_p.Q268Q|AFF3_uc010fir.1_Silent_p.Q320Q|AFF3_uc002tai.2_Silent_p.Q165Q NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 243 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 CATCAGGGGCCTGATCTTGGC 0.572 NaN 0 0 0 0.055883 0 21 8 BUB1 699 broad.mit.edu 37 2 111395670 111395670 + Missense_Mutation SNP A A T TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr2:111395670A>T uc002tgc.2 - 25 3241 c.3129T>A c.(3127-3129)CAT>CAA p.H1043Q BUB1_uc010yxh.1_Missense_Mutation_p.H1023Q|BUB1_uc010fkb.2_Missense_Mutation_p.H986Q NM_004336 NP_004327 O43683 BUB1_HUMAN budding uninhibited by benzimidazoles 1 1043 Protein kinase. apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1) 7 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) AAGATGGAAGATGATGACAAT 0.333 NaN 0 0 0 0.150653 0 4 35 NCOA6 23054 broad.mit.edu 37 20 33329786 33329786 + Missense_Mutation SNP C C A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr20:33329786C>A uc002xav.2 - 12 6845 c.4274G>T c.(4273-4275)AGT>ATT p.S1425I NCOA6_uc002xaw.2_Missense_Mutation_p.S1425I NM_014071 NP_054790 Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1425 brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding ovary(3)|breast(3)|central_nervous_system(1) 7 CTGGCAATCACTGTCCTGAGG 0.468 NaN 1 0 4.7546e-09 0.146539 5.30021e-09 15 96 RBL1 5933 broad.mit.edu 37 20 35724278 35724278 + Silent SNP C C A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr20:35724278C>A uc002xgi.2 - 1 133 c.54G>T c.(52-54)GGG>GGT p.G18G RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Silent_p.G18G|RBL1_uc010gfv.1_RNA NM_002895 NP_002886 P28749 RBL1_HUMAN retinoblastoma-like protein 1 isoform a 18 cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding lung(5)|skin(3)|ovary(2) 10 Myeloproliferative disorder(115;0.00878) GTAGCGCCTCCCCGGCTGCGG 0.697 NaN 1 0 3.09899e-07 0.047766 3.34494e-07 5 4 ZNF831 128611 broad.mit.edu 37 20 57767397 57767397 + Silent SNP C C T TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr20:57767397C>T uc002yan.2 + 1 1323 c.1323C>T c.(1321-1323)GAC>GAT p.D441D NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 441 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) GCAGCATCGACCTGCCCACGC 0.677 NaN 0 0 0 0.021553 0 5 23 HDAC11 79885 broad.mit.edu 37 3 13522882 13522882 + Missense_Mutation SNP A A C TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr3:13522882A>C uc003bxy.2 + 2 272 c.139A>C c.(139-141)AAT>CAT p.N47H HDAC11_uc010heb.2_Missense_Mutation_p.N19H|HDAC11_uc011aux.1_5'UTR|HDAC11_uc003bxz.2_Missense_Mutation_p.N19H|HDAC11_uc011auy.1_Missense_Mutation_p.N19H NM_024827 NP_079103 Q96DB2 HDA11_HUMAN histone deacetylase 11 isoform 1 47 Histone deacetylase. regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex|plasma membrane histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding ovary(2) 2 CAAAGTGATCAATTTCCTAAA 0.542 NaN 0 0 0 0.139131 0 52 149 ZNF445 353274 broad.mit.edu 37 3 44488285 44488285 + Missense_Mutation SNP T T G TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr3:44488285T>G uc003cnf.2 - 8 3226 c.2878A>C c.(2878-2880)AGC>CGC p.S960R ZNF445_uc011azv.1_Missense_Mutation_p.S948R|ZNF445_uc011azw.1_Missense_Mutation_p.S960R NM_181489 NP_852466 P59923 ZN445_HUMAN zinc finger protein 445 960 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) GAGCTCTGGCTGCAAGCTTCT 0.478 NaN 0 0 0 0.055883 0 20 63 PDZRN3 23024 broad.mit.edu 37 3 73433184 73433184 + Missense_Mutation SNP C C T TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr3:73433184C>T uc003dpl.1 - 10 2629 c.2533G>A c.(2533-2535)GGG>AGG p.G845R PDZRN3_uc011bgh.1_Missense_Mutation_p.G502R|PDZRN3_uc010hoe.1_Missense_Mutation_p.G543R|PDZRN3_uc011bgf.1_Missense_Mutation_p.G562R|PDZRN3_uc011bgg.1_Missense_Mutation_p.G565R NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 845 ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) CTCCGGCTCCCGTCGCTGGCT 0.667 NaN 0 0 0 0.146539 0 14 11 PARP14 54625 broad.mit.edu 37 3 122446797 122446797 + Nonsense_Mutation SNP C C T TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr3:122446797C>T uc003efq.3 + 16 5139 c.5080C>T c.(5080-5082)CGA>TGA p.R1694* PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Nonsense_Mutation_p.R1411* NM_017554 NP_060024 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 1694 PARP catalytic. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity ovary(2)|breast(2)|lung(1)|pancreas(1) 6 GBM - Glioblastoma multiforme(114;0.0531) ACACGTCAATCGAAATGGCTT 0.507 NaN 0 0 0 0.173368 0 28 35 MYLK 4638 broad.mit.edu 37 3 123419212 123419212 + Silent SNP G G A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr3:123419212G>A uc003ego.2 - 18 3385 c.3103C>T c.(3103-3105)CTG>TTG p.L1035L MYLK_uc011bjw.1_Silent_p.L1035L|MYLK_uc003egp.2_Silent_p.L966L|MYLK_uc003egq.2_Silent_p.L1035L|MYLK_uc003egr.2_Silent_p.L966L|MYLK_uc003egs.2_Silent_p.L859L|MYLK_uc003egt.2_Silent_p.L226L NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 1035 2-4.|6 X 12 AA approximate tandem repeats. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) ATTGGCTTCAGGGTCTCAGCA 0.577 NaN 0 0 0 0.139131 0 112 124 ZIC4 84107 broad.mit.edu 37 3 147114157 147114157 + Missense_Mutation SNP C C T TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr3:147114157C>T uc003ewd.1 - 3 443 c.170G>A c.(169-171)CGT>CAT p.R57H ZIC4_uc003ewc.1_5'UTR|ZIC4_uc011bno.1_Missense_Mutation_p.R107H NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 57 nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 ATTCAAAGGACGGCTGGGGGA 0.726 NaN 0 0 0 0.11911 0 12 32 GABRA4 2557 broad.mit.edu 37 4 46930266 46930266 + Missense_Mutation SNP C C T TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr4:46930266C>T uc003gxg.2 - 9 1780 c.1641G>A c.(1639-1641)ATG>ATA p.M547I NM_000809 NP_000800 P48169 GBRA4_HUMAN gamma-aminobutyric acid A receptor, alpha 4 547 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|upper_aerodigestive_tract(1)|breast(1) 4 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CTGATTTCTCCATAGTGTCCT 0.294 NaN 0 0 0 0.150653 0 3 119 MUC7 4589 broad.mit.edu 37 4 71347033 71347033 + Missense_Mutation SNP C C T TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr4:71347033C>T uc011cat.1 + 4 860 c.572C>T c.(571-573)GCC>GTC p.A191V MUC7_uc011cau.1_Missense_Mutation_p.A191V|MUC7_uc003hfj.2_Missense_Mutation_p.A191V|uc011cav.1_RNA NM_001145006 NP_001138478 Q8TAX7 MUC7_HUMAN mucin 7, secreted precursor 191 2.|Thr-rich. extracellular region protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 Lung(101;0.211) ACCACAGCTGCCCCACCCACA 0.587 NaN 0 0 0 0.150653 0 4 154 EXOSC9 5393 broad.mit.edu 37 4 122728756 122728756 + Missense_Mutation SNP G G A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr4:122728756G>A uc003iea.2 + 6 692 c.584G>A c.(583-585)AGT>AAT p.S195N EXOSC9_uc003idz.2_Missense_Mutation_p.S195N|EXOSC9_uc003ieb.2_Missense_Mutation_p.S179N|EXOSC9_uc010inp.1_RNA NM_005033 NP_005024 Q06265 EXOS9_HUMAN exosome component 9 isoform 2 195 ARE binding. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing cytosol|nuclear exosome (RNase complex)|nucleolus|nucleolus|nucleus 3'-5'-exoribonuclease activity|AU-rich element binding|protein binding 0 ATTTGTGTCAGTTTTGCCTTT 0.368 NaN 0 0 0 0.09319 0 10 77 ADAMTS12 81792 broad.mit.edu 37 5 33576989 33576989 + Missense_Mutation SNP T T A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr5:33576989T>A uc003jia.1 - 19 3305 c.3142A>T c.(3142-3144)ATC>TTC p.I1048F ADAMTS12_uc010iuq.1_Missense_Mutation_p.I963F NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1048 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 GGGCTGCTGATTGCTGGAGTG 0.557 NaN HNSCC(64;0.19) 0 0 0 0.124865 0 40 52 PCDHB3 56132 broad.mit.edu 37 5 140482387 140482387 + Missense_Mutation SNP G G T rs113521664 TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr5:140482387G>T uc003lio.2 + 1 2154 c.2154G>T c.(2152-2154)AGG>AGT p.R718S uc003lin.2_5'Flank NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 precursor 718 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGAGGAGCAGGGCGGCCTCGG 0.667 NaN 1 0 1.54771e-57 0.139131 1.81456e-57 90 82 PCDHB14 56122 broad.mit.edu 37 5 140604519 140604519 + Missense_Mutation SNP G G A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr5:140604519G>A uc003ljb.2 + 1 1442 c.1442G>A c.(1441-1443)GGC>GAC p.G481D PCDHB14_uc011dal.1_Missense_Mutation_p.G328D NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN protocadherin beta 14 precursor 481 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGAGACTCAGGCACCAACGCC 0.647 NaN 0 0 0 0.139131 0 70 124 WWC1 23286 broad.mit.edu 37 5 167835653 167835653 + Missense_Mutation SNP G G A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr5:167835653G>A uc003lzu.2 + 7 955 c.862G>A c.(862-864)GGA>AGA p.G288R WWC1_uc003lzv.2_Missense_Mutation_p.G288R|WWC1_uc011den.1_Missense_Mutation_p.G288R|WWC1_uc003lzw.2_Missense_Mutation_p.G87R NM_015238 NP_056053 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 isoform 3 288 cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity ovary(2)|skin(2)|breast(1) 5 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) AGACATCTCGGGAAGCGTGAG 0.592 NaN 0 0 0 0.160694 0 15 176 FOXQ1 94234 broad.mit.edu 37 6 1313343 1313343 + Nonsense_Mutation SNP C C A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 C A C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr6:1313343C>A uc003mtl.3 + 1 669 c.404C>A c.(403-405)TCG>TAG p.S135* NM_033260 NP_150285 Q9C009 FOXQ1_HUMAN forkhead box Q1 135 Fork-head. DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding 0 Ovarian(93;0.0733) Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18) ATCCGCGACTCGGCGGGCGGG 0.592 NaN 1 0 1.04594e-18 0.086207 1.20549e-18 31 25 GPX6 257202 broad.mit.edu 37 6 28478665 28478665 + Missense_Mutation SNP C C G TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr6:28478665C>G uc011dlj.1 - 2 154 c.104G>C c.(103-105)GGG>GCG p.G35A GPX6_uc010jrg.1_RNA NM_182701 NP_874360 P59796 GPX6_HUMAN glutathione peroxidase 6 precursor 35 response to oxidative stress extracellular region glutathione peroxidase activity ovary(3)|pancreas(1)|skin(1) 5 Glutathione(DB00143) GCCTGTTACCCCTTTGTTGCA 0.408 NaN 0 0 0 0.139131 0 34 31 VPS52 6293 broad.mit.edu 37 6 33232186 33232186 + Missense_Mutation SNP G G C TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr6:33232186G>C uc003odm.1 - 14 1699 c.1489C>G c.(1489-1491)CAG>GAG p.Q497E VPS52_uc003odn.1_Missense_Mutation_p.Q308E NM_022553 NP_072047 Q8N1B4 VPS52_HUMAN vacuolar protein sorting 52 497 protein transport endosome membrane|Golgi apparatus ovary(4)|skin(1) 5 CCTAGGCGCTGGGGGTCAGTG 0.557 NaN 0 0 0 0.139131 0 43 51 PHF3 23469 broad.mit.edu 37 6 64390062 64390062 + Missense_Mutation SNP G G A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr6:64390062G>A uc003pep.1 + 2 432 c.406G>A c.(406-408)GAA>AAA p.E136K PHF3_uc010kaf.1_Missense_Mutation_p.E136K|PHF3_uc003pem.2_Missense_Mutation_p.E89K|PHF3_uc010kag.1_Missense_Mutation_p.E48K|PHF3_uc010kah.1_Intron|PHF3_uc003pen.2_Missense_Mutation_p.E48K|PHF3_uc011dxs.1_5'UTR|PHF3_uc003peo.2_Missense_Mutation_p.E136K NM_015153 NP_055968 Q92576 PHF3_HUMAN PHD finger protein 3 136 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding ovary(3)|lung(1)|skin(1) 5 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) AATGGCACAAGGTAATCCTTT 0.368 NaN 0 0 0 0.139131 0 77 73 RIMS1 22999 broad.mit.edu 37 6 72957746 72957747 + Nonsense_Mutation DNP GG GG CT TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr6:72957746_72957747GG>CT uc003pga.2 + 12 2234_2235 c.2157_2158GG>CT c.(2155-2160)ATGGAA>ATCTAA p.719_720ME>I* RIMS1_uc011dyb.1_Nonsense_Mutation_p.345_346ME>I*|RIMS1_uc003pgc.2_Nonsense_Mutation_p.345_346ME>I*|RIMS1_uc010kaq.2_Nonsense_Mutation_p.193_194ME>I*|RIMS1_uc011dyc.1_Nonsense_Mutation_p.193_194ME>I*|RIMS1_uc010kar.2_Nonsense_Mutation_p.112_113ME>I*|RIMS1_uc011dyd.1_Nonsense_Mutation_p.178_179ME>I*|RIMS1_uc003pgf.2_5'Flank|RIMS1_uc003pgg.2_5'Flank|RIMS1_uc003pgi.2_5'Flank|RIMS1_uc003pgh.2_5'Flank|RIMS1_uc003pgd.2_5'Flank|RIMS1_uc003pge.2_5'Flank|RIMS1_uc003pgb.3_Nonsense_Mutation_p.345_346ME>I*|RIMS1_uc010kas.1_Nonsense_Mutation_p.178_179ME>I* NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 719_720 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) CTCAGAAGATGGAAAGGCCTTC 0.332 NaN 0 0 0 0.115264 0 22 61 OPRM1 4988 broad.mit.edu 37 6 154412526 154412526 + Silent SNP G G A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr6:154412526G>A uc003qpr.2 + 3 1320 c.1083G>A c.(1081-1083)GAG>GAA p.E361E OPRM1_uc011efc.1_Silent_p.E280E|OPRM1_uc011efd.1_Silent_p.E261E|OPRM1_uc011efe.1_Silent_p.E454E|OPRM1_uc003qpn.2_Silent_p.E361E|OPRM1_uc003qpo.1_Silent_p.E361E|OPRM1_uc011eff.1_Silent_p.E361E|OPRM1_uc011efg.1_Silent_p.E361E|OPRM1_uc011efh.1_Silent_p.E361E|OPRM1_uc003qpq.1_Silent_p.E361E|OPRM1_uc003qpt.1_Silent_p.E361E|OPRM1_uc011efi.1_Silent_p.E361E|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA|OPRM1_uc010kjg.2_Silent_p.E261E|OPRM1_uc003qpu.2_Silent_p.E261E NM_000914 NP_000905 P35372 OPRM_HUMAN opioid receptor, mu 1 isoform MOR-1 361 Cytoplasmic (Potential). behavior|negative regulation of cell proliferation|sensory perception endoplasmic reticulum|Golgi apparatus|integral to plasma membrane mu-opioid receptor activity|protein binding ovary(1) 1 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154) Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193) CCAACATTGAGCAACAAAACT 0.448 NaN 0 0 0 0.150653 0 3 109 FNDC1 84624 broad.mit.edu 37 6 159655154 159655154 + Missense_Mutation SNP C C G TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr6:159655154C>G uc010kjv.2 + 11 3810 c.3610C>G c.(3610-3612)CCC>GCC p.P1204A FNDC1_uc010kjw.1_Missense_Mutation_p.P1089A NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1204 extracellular region large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GCCAAAGTGGCCCTCTTCCTC 0.632 NaN 0 0 0 0.038147 0 5 15 FNDC1 84624 broad.mit.edu 37 6 159655190 159655190 + Missense_Mutation SNP G G A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr6:159655190G>A uc010kjv.2 + 11 3846 c.3646G>A c.(3646-3648)GAT>AAT p.D1216N FNDC1_uc010kjw.1_Missense_Mutation_p.D1101N NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1216 extracellular region large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) CAAAGACGCCGATGGGAGCCT 0.637 NaN 0 0 0 0.02938 0 6 7 IGF2R 3482 broad.mit.edu 37 6 160517637 160517637 + Silent SNP C C T TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr6:160517637C>T uc003qta.2 + 45 6970 c.6822C>T c.(6820-6822)ACC>ACT p.T2274T NM_000876 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor precursor 2274 15.|Lumenal (Potential). receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity ovary(3) 3 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) CTTGGTACACCTCAGCCGTGT 0.522 NaN 0 0 0 0.132662 0 12 74 AMZ1 155185 broad.mit.edu 37 7 2740362 2740362 + Missense_Mutation SNP C C G TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr7:2740362C>G uc003smr.1 + 2 638 c.277C>G c.(277-279)CGG>GGG p.R93G AMZ1_uc003sms.1_Missense_Mutation_p.R93G|AMZ1_uc011jwa.1_5'Flank NM_133463 NP_597720 Q400G9 AMZ1_HUMAN archaelysin family metallopeptidase 1 93 metallopeptidase activity|zinc ion binding 0 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;5.03e-14) CCGCCTGGCTCGGAAGCACAT 0.642 NaN 0 0 0 0.183431 0 25 44 ZP3 7784 broad.mit.edu 37 7 76069569 76069569 + Missense_Mutation SNP A A G TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr7:76069569A>G uc003ufd.3 + 6 844 c.834A>G c.(832-834)ATA>ATG p.I278M ZP3_uc003ufc.3_Missense_Mutation_p.I227M|ZP3_uc003ufe.2_Missense_Mutation_p.I186M NM_001110354 NP_001103824 P21754 ZP3_HUMAN zona pellucida glycoprotein 3 isoform 1 278 Extracellular (Potential).|ZP. binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding 0 CCTTGCAGATATACATCACCT 0.502 NaN 0 0 0 0.058154 0 7 1 TRRAP 8295 broad.mit.edu 37 7 98592453 98592453 + Missense_Mutation SNP A A G TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr7:98592453A>G uc003upp.2 + 66 10458 c.10249A>G c.(10249-10251)AAA>GAA p.K3417E TRRAP_uc011kis.1_Missense_Mutation_p.K3388E|TRRAP_uc003upr.2_Missense_Mutation_p.K3123E NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 3417 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TCAGAAGCTGAAAGGCCAGTT 0.552 NaN 0 0 0 0.139131 0 80 19 TRIM56 81844 broad.mit.edu 37 7 100730858 100730858 + Missense_Mutation SNP C C T TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr7:100730858C>T uc003uxq.2 + 3 496 c.265C>T c.(265-267)CGG>TGG p.R89W TRIM56_uc003uxr.2_Missense_Mutation_p.R89W NM_030961 NP_112223 Q9BRZ2 TRI56_HUMAN tripartite motif-containing 56 89 defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon cytoplasm ubiquitin-protein ligase activity|zinc ion binding kidney(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(181;0.136)|all_lung(186;0.182) GGTGAAGGCCCGGGCCTGTGG 0.706 NaN 0 0 0 0.021553 0 5 61 FOXP2 93986 broad.mit.edu 37 7 114270000 114270000 + Silent SNP G G A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr7:114270000G>A uc003vhb.2 + 5 911 c.537G>A c.(535-537)CAG>CAA p.Q179Q FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Silent_p.Q204Q|FOXP2_uc003vha.2_Silent_p.Q87Q|FOXP2_uc011kmu.1_Silent_p.Q196Q|FOXP2_uc011kmv.1_Silent_p.Q179Q|FOXP2_uc010ljz.1_Silent_p.Q87Q|FOXP2_uc003vgt.1_RNA|FOXP2_uc003vgv.1_Silent_p.Q179Q|FOXP2_uc003vgx.2_Silent_p.Q179Q|FOXP2_uc003vhd.2_Silent_p.Q179Q|FOXP2_uc003vhc.2_Silent_p.Q204Q NM_014491 NP_055306 O15409 FOXP2_HUMAN forkhead box P2 isoform I 179 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1) 8 agcaacaacagcagcagcagc 0.159 NaN 0 0 0 0.014758 0 5 18 OR2F1 26211 broad.mit.edu 37 7 143657849 143657849 + Silent SNP C C G TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr7:143657849C>G uc003wds.1 + 1 830 c.786C>G c.(784-786)CCC>CCG p.P262P NM_012369 NP_036501 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, 262 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 Melanoma(164;0.0903) ACATCCAGCCCCACTCCAGTC 0.473 NaN 0 0 0 0.150653 0 4 63 CSMD1 64478 broad.mit.edu 37 8 2830727 2830727 + Silent SNP G G T TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr8:2830727G>T uc011kwk.1 - 57 9228 c.8838C>A c.(8836-8838)TCC>TCA p.S2946S CSMD1_uc011kwj.1_Silent_p.S2275S|CSMD1_uc010lrg.2_Silent_p.S956S NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2946 Extracellular (Potential).|Sushi 22. 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) CCATTTCACAGGAGAAGCGGA 0.552 NaN 1 0 1.23904e-05 0.014758 1.32685e-05 5 103 KIAA1967 57805 broad.mit.edu 37 8 22475219 22475219 + Silent SNP G G A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr8:22475219G>A uc003xch.2 + 16 2138 c.2001G>A c.(1999-2001)AAG>AAA p.K667K KIAA1967_uc003xci.2_Silent_p.K667K|KIAA1967_uc003xcj.1_Silent_p.K336K NM_199205 NP_954675 Q8N163 K1967_HUMAN p30 DBC protein 667 apoptosis|positive regulation of apoptosis mitochondrial matrix|nucleus enzyme binding|enzyme inhibitor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) CAGGAGCAAAGCTGGAGGATT 0.532 NaN 0 0 0 0.021553 0 6 91 ASAP1 50807 broad.mit.edu 37 8 131130435 131130435 + Missense_Mutation SNP G G A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr8:131130435G>A uc003yta.1 - 19 1880 c.1852C>T c.(1852-1854)CAT>TAT p.H618Y ASAP1_uc003ysz.1_Missense_Mutation_p.H429Y|ASAP1_uc011liw.1_Missense_Mutation_p.H611Y NM_018482 NP_060952 Q9ULH1 ASAP1_HUMAN development and differentiation enhancing factor 618 ANK 1. cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding ovary(4) 4 TCAACCAAATGGAGAGATGTC 0.393 NaN 0 0 0 0.150653 0 3 81 KDM4C 23081 broad.mit.edu 37 9 7103807 7103807 + Silent SNP G G A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr9:7103807G>A uc003zkh.2 + 18 3127 c.2547G>A c.(2545-2547)GAG>GAA p.E849E KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Silent_p.E849E|KDM4C_uc011lmk.1_Silent_p.E594E|KDM4C_uc011lml.1_Silent_p.E536E NM_015061 NP_055876 Q9H3R0 KDM4C_HUMAN jumonji domain containing 2C isoform 1 849 PHD-type 2. positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent nuclear chromatin androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 TACTGATGGAGCCTGATGACT 0.468 NaN 0 0 0 0.163468 0 28 59 FAM75C1 441452 broad.mit.edu 37 9 90536086 90536086 + Missense_Mutation SNP G G A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr9:90536086G>A uc010mqi.2 + 4 1293 c.1264G>A c.(1264-1266)GTC>ATC p.V422I FAM75C1_uc004apq.3_Missense_Mutation_p.V405I NM_001145124 NP_001138596 family with sequence similarity 75, member C1 0 ACCCTCTAGGGTCCAAAAATC 0.478 NaN 0 0 0 0.064281 0 26 151 IKBKAP 8518 broad.mit.edu 37 9 111665223 111665223 + Splice_Site SNP C C A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr9:111665223C>A uc004bdm.3 - 16 2271 c.1751_splice c.e16-1 p.E584_splice IKBKAP_uc004bdl.2_Splice_Site_p.E235_splice|IKBKAP_uc011lwc.1_Splice_Site_p.E470_splice|IKBKAP_uc010mtq.2_Splice_Site_p.E235_splice NM_003640 NP_003631 O95163 ELP1_HUMAN inhibitor of kappa light polypeptide gene immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1) 7 GAAGGTGACTCTGCAAGATTC 0.413 NaN 1 0 1.50039e-11 0.062417 1.70044e-11 20 48 SEC16A 9919 broad.mit.edu 37 9 139369743 139369743 + Silent SNP C C T TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr9:139369743C>T uc004chx.2 - 3 2634 c.2325G>A c.(2323-2325)TCG>TCA p.S775S SEC16A_uc004chv.3_Silent_p.S402S|SEC16A_uc004chw.2_Silent_p.S775S|SEC16A_uc010nbn.2_Silent_p.S775S|SEC16A_uc010nbo.1_Silent_p.S775S NM_014866 NP_055681 O15027 SC16A_HUMAN SEC16 homolog A 597 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane 0 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) CCGGGGCCGCCGAGCTTGGGT 0.607 NaN 0 0 0 0.047766 0 7 56 PNPLA4 8228 broad.mit.edu 37 X 7870171 7870171 + Silent SNP G G A rs150755827 TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chrX:7870171G>A uc011mhq.1 - 6 651 c.489C>T c.(487-489)GAC>GAT p.D163D PNPLA4_uc011mhr.1_Silent_p.D163D|PNPLA4_uc011mhs.1_Silent_p.D76D NM_004650 NP_004641 P41247 PLPL4_HUMAN patatin-like phospholipase domain containing 4 163 Patatin. lipid catabolic process triglyceride lipase activity 0 Colorectal(8;0.0329)|Medulloblastoma(8;0.232) TGAGGCCTCCGTCCACCCACT 0.542 NaN 0 0 0 0.116897 0 26 4 ZFX 7543 broad.mit.edu 37 X 24225885 24225885 + Missense_Mutation SNP C C A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chrX:24225885C>A uc004dbf.2 + 6 1111 c.853C>A c.(853-855)CTT>ATT p.L285I ZFX_uc004dbd.1_Missense_Mutation_p.L285I|ZFX_uc010nfx.1_Missense_Mutation_p.L56I|ZFX_uc004dbe.2_Missense_Mutation_p.L285I|ZFX_uc011mjv.1_Missense_Mutation_p.L324I|ZFX_uc010nfy.1_Intron|ZFX_uc010nfz.2_5'UTR NM_003410 NP_003401 P17010 ZFX_HUMAN zinc finger protein, X-linked 285 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(2) 2 AGTTGAACTGCTTGATCAGAA 0.403 NaN 1 0 7.03913e-09 0.09319 7.7831e-09 11 122 FAM47C 442444 broad.mit.edu 37 X 37027200 37027200 + Silent SNP A A C TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chrX:37027200A>C uc004ddl.1 + 1 731 c.717A>C c.(715-717)CCA>CCC p.P239P NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 239 ovary(3) 3 TGGAGCCTCCAGAGACTGGAG 0.637 NaN 0 0 0 0.115264 0 3 53 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chrX:37028425A>G uc004ddl.1 + 1 1956 c.1942A>G c.(1942-1944)AAT>GAT p.N648D NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 648 ovary(3) 3 GGAGCCTCCCAATACTGGAGT 0.642 NaN 0 0 0 0.014758 0 4 78 ZCCHC5 203430 broad.mit.edu 37 X 77912689 77912689 + Missense_Mutation SNP T T A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chrX:77912689T>A uc004edc.1 - 2 1525 c.1229A>T c.(1228-1230)GAT>GTT p.D410V NM_152694 NP_689907 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 410 nucleic acid binding|zinc ion binding ovary(1) 1 CTCGGGTCCATCTCCCTCTGC 0.537 NaN 0 0 0 0.139131 0 53 9 NXF3 56000 broad.mit.edu 37 X 102334726 102334726 + Silent SNP G G A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chrX:102334726G>A uc004eju.2 - 13 1196 c.1125C>T c.(1123-1125)TCC>TCT p.S375S NXF3_uc010noi.1_Silent_p.S225S NM_022052 NP_071335 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 375 NTF2. cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding ovary(1)|lung(1)|central_nervous_system(1) 3 GAATGCTCAGGGAGAAGCAGG 0.547 NaN 0 0 0 0.115264 0 3 70 TEX13A 56157 broad.mit.edu 37 X 104463696 104463696 + Missense_Mutation SNP C C A TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chrX:104463696C>A uc004ema.2 - 5 1292 c.1180G>T c.(1180-1182)GAT>TAT p.D394Y IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_3'UTR NM_031274 NP_112564 Q9BXU3 TX13A_HUMAN testis expressed sequence 13A 394 RanBP2-type. intracellular zinc ion binding ovary(2) 2 AAGCAAGTATCCCTCCGTGAA 0.488 NaN 1 0 3.6533e-62 0.139131 4.32043e-62 121 19 PBXIP1 57326 broad.mit.edu 37 1 154917508 154917510 + In_Frame_Del DEL GGT GGT - rs143592003 TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr1:154917508_154917510delGGT uc001ffr.2 - 11 2245_2247 c.2186_2188delACC c.(2185-2190)CACCGG>CGG p.H729del PBXIP1_uc001ffs.2_In_Frame_Del_p.H700del|PBXIP1_uc010pep.1_In_Frame_Del_p.H574del NM_020524 NP_065385 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 729 His-rich. cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity large_intestine(1) 1 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) TGTCAGCCCCGGTGGTGGTGGTG 0.64 NaN NaN NaN NaN NaN NaN 7 214 --- --- MLEC 9761 broad.mit.edu 37 12 121125148 121125150 + In_Frame_Del DEL CTG CTG - TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr12:121125148_121125150delCTG uc001tyy.1 + 1 200_202 c.49_51delCTG c.(49-51)CTGdel p.L22del NM_014730 NP_055545 Q14165 MLEC_HUMAN malectin precursor 22 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane carbohydrate binding ovary(1) 1 gctcctgcgactgctgctgctgc 0.517 NaN NaN NaN NaN NaN NaN 2 4 --- --- SLC25A30 253512 broad.mit.edu 37 13 45985521 45985522 + Frame_Shift_Ins INS - - C TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr13:45985521_45985522insC uc001vag.2 - 2 176_177 c.39_40insG c.(37-42)GGGCTGfs p.G13fs SLC25A30_uc010tfs.1_5'UTR|SLC25A30_uc001vah.2_5'UTR|SLC25A30_uc010tft.1_Intron NM_001010875 NP_001010875 Q5SVS4 KMCP1_HUMAN solute carrier family 25, member 30 13_14 Solcar 1.|Helical; Name=1; (Potential). mitochondrial transport integral to membrane|mitochondrial inner membrane binding breast(1) 1 Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.95e-05) ATGGAGGCCAGCCCCCCGTACA 0.495 NaN NaN NaN NaN NaN NaN 59 24 --- --- CHD3 1107 broad.mit.edu 37 17 7788146 7788148 + In_Frame_Del DEL GAG GAG - TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr17:7788146_7788148delGAG uc002gjd.2 + 1 24_26 c.22_24delGAG c.(22-24)GAGdel p.E14del NM_001005271 NP_001005271 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(1) 1 Prostate(122;0.202) TCTGAGggacgaggaggaggagg 0.094 NaN NaN NaN NaN NaN NaN 3 4 --- --- CRLF3 51379 broad.mit.edu 37 17 29112973 29112973 + Frame_Shift_Del DEL G G - TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr17:29112973delG uc002hfr.3 - 7 1145 c.1036delC c.(1036-1038)CTGfs p.L346fs CRLF3_uc010wbr.1_Frame_Shift_Del_p.L230fs NM_015986 NP_057070 Q8IUI8 CRLF3_HUMAN cytokine receptor-like factor 3 346 negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter cytoplasm 0 all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255) TCCCGCTGCAGAGAGTCATAT 0.368 NaN NaN NaN NaN NaN NaN 31 283 --- --- USP25 29761 broad.mit.edu 37 21 17250653 17250653 + Frame_Shift_Del DEL G G - TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr21:17250653delG uc002yjy.1 + 24 3244 c.3027delG c.(3025-3027)TTGfs p.L1009fs USP25_uc011aby.1_Frame_Shift_Del_p.L1079fs|USP25_uc002yjz.1_Frame_Shift_Del_p.L1041fs|USP25_uc010gla.1_Frame_Shift_Del_p.L404fs NM_013396 NP_037528 Q9UHP3 UBP25_HUMAN ubiquitin specific peptidase 25 1009 protein modification process|ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(3)|liver(2) 5 Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889) CAGATTTTTTGCCAAAACTGC 0.363 NaN NaN NaN NaN NaN NaN 57 47 --- --- WRNIP1 56897 broad.mit.edu 37 6 2766344 2766346 + In_Frame_Del DEL AGG AGG - TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr6:2766344_2766346delAGG uc003mtz.2 + 1 679_681 c.488_490delAGG c.(487-492)CAGGAG>CAG p.E167del WRNIP1_uc003mua.2_In_Frame_Del_p.E167del NM_020135 NP_064520 Q96S55 WRIP1_HUMAN Werner helicase interacting protein isoform 1 167 DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation mitochondrion|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding ovary(1)|pancreas(1) 2 Ovarian(93;0.0412) all_hematologic(90;0.0895) gcggaggcgcaggaggaggagga 0.374 NaN NaN NaN NaN NaN NaN 3 4 --- --- KRBA1 84626 broad.mit.edu 37 7 149427255 149427255 + Frame_Shift_Del DEL C C - TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr7:149427255delC uc003wfz.2 + 15 2228 c.1829delC c.(1828-1830)TCCfs p.S610fs KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_Frame_Shift_Del_p.S217fs NM_032534 NP_115923 A5PL33 KRBA1_HUMAN KRAB A domain containing 1 610 Pro-rich. ovary(1)|central_nervous_system(1) 2 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCCAAGCCCTCCCCGCTGCAC 0.567 NaN NaN NaN NaN NaN NaN 2 4 --- --- NUDCD1 84955 broad.mit.edu 37 8 110293311 110293312 + Frame_Shift_Del DEL TG TG - rs143668430 TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 780f4201-4e59-47b8-b3b7-d322a6162b2d fdf4684d-6346-469c-b07b-5d4846a8816a g.chr8:110293311_110293312delTG uc003ynb.3 - 6 1024_1025 c.913_914delCA c.(913-915)CAGfs p.Q305fs NUDCD1_uc003yna.2_Frame_Shift_Del_p.Q276fs|NUDCD1_uc010mcl.2_Frame_Shift_Del_p.Q218fs|NUDCD1_uc010mcm.1_Frame_Shift_Del_p.Q218fs NM_032869 NP_116258 Q96RS6 NUDC1_HUMAN NudC domain containing 1 isoform 1 305 CS. ovary(1)|breast(1) 2 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;1.56e-12) AGGCAAAAACTGTATTTGAATG 0.371 NaN NaN NaN NaN NaN NaN 82 10 --- ---