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 MORN1 79906 broad.mit.edu 37 1 2303936 2303936 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:2303936G>A uc001ajb.1 - 8 750 c.729C>T c.(727-729)CAC>CAT p.H243H MORN1_uc009vld.2_Silent_p.H219H|MORN1_uc001ajd.1_Silent_p.H243H NM_024848 NP_079124 Q5T089 MORN1_HUMAN MORN repeat containing 1 243 ovary(2)|central_nervous_system(1) 3 all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212) CAATTTCCCCGTGGTCCTGCA 0.542 RER1 11079 broad.mit.edu 37 1 2334500 2334500 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:2334500G>A uc001aje.1 + 7 719 c.528G>A c.(526-528)CCG>CCA p.P176P RER1_uc001ajf.1_3'UTR NM_007033 NP_008964 O15258 RER1_HUMAN RER1 retention in endoplasmic reticulum 1 176 HAATKGILVAMVCTFFDAFNVPVFWPILVMYFIMLFCITMK RQIKHMIKYRYIPFTHGKRRYRGKEDAGKAFAS -> DASV CGDGRCSCKAGGGRQCPVLAADAALTFSPHLKACGYQGHPC GYGLYFLRRFQRPGVLADSGDVLHHALLYHDEEANQAHD (in Ref. 2; AAC72940). retrograde vesicle-mediated transport, Golgi to ER integral to Golgi membrane 0 all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204) GGTACATCCCGTTCACACATG 0.547 ARHGEF16 27237 broad.mit.edu 37 1 3395142 3395142 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:3395142C>T uc001akg.3 + 12 2028 c.1780C>T c.(1780-1782)CGC>TGC p.R594C ARHGEF16_uc001aki.2_Missense_Mutation_p.R306C|ARHGEF16_uc001akj.2_Missense_Mutation_p.R306C|ARHGEF16_uc010nzh.1_Missense_Mutation_p.R298C NM_014448 NP_055263 Q5VV41 ARHGG_HUMAN Rho guanine exchange factor 16 594 PH. activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction cytosol PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity ovary(1) 1 all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101) all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211) Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) CAGCGAGGGCCGCCAGGAGCA 0.677 MEGF6 1953 broad.mit.edu 37 1 3431982 3431982 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:3431982G>A uc001akl.2 - 6 941 c.714C>T c.(712-714)GAC>GAT p.D238D MEGF6_uc001akk.2_Silent_p.D133D NM_001409 NP_001400 O75095 MEGF6_HUMAN EGF-like-domain, multiple 3 precursor 238 EGF-like 4.|EGF-like 3. extracellular region calcium ion binding large_intestine(1) 1 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) AATGCCTGCCGTCCTCCTGGA 0.677 KIAA0562 9731 broad.mit.edu 37 1 3765295 3765295 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:3765295C>T uc001aky.2 - 3 523 c.164G>A c.(163-165)CGA>CAA p.R55Q KIAA0562_uc010nzm.1_RNA|KIAA0562_uc001akz.2_Missense_Mutation_p.R55Q NM_014704 NP_055519 O60308 CE104_HUMAN glycine-, glutamate-, 55 centriole binding 0 all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227) all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212) Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137) TTTCCTTATTCGACATCTCTC 0.358 DFFB 1677 broad.mit.edu 37 1 3789133 3789133 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:3789133A>G uc001alc.2 + 6 1102 c.779A>G c.(778-780)CAC>CGC p.H260R DFFB_uc001ale.2_RNA|DFFB_uc009vlp.2_RNA|DFFB_uc001alb.2_RNA|DFFB_uc010nzn.1_Missense_Mutation_p.H284R|DFFB_uc009vlq.2_RNA|DFFB_uc009vlr.2_Missense_Mutation_p.H211R|DFFB_uc001ald.2_Missense_Mutation_p.H196R NM_004402 NP_004393 O76075 DFFB_HUMAN DNA fragmentation factor, 40 kD, beta 260 apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction cytosol|nucleoplasm deoxyribonuclease activity|enzyme binding 0 all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227) all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211) Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124) AACCTGGATCACATGTAAGCT 0.398 CHD5 26038 broad.mit.edu 37 1 6169955 6169955 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:6169955G>A uc001amb.1 - 38 5578 c.5478C>T c.(5476-5478)AAC>AAT p.N1826N CHD5_uc001alz.1_Silent_p.N683N|CHD5_uc001ama.1_RNA NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1826 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) CCAGGCGGGCGTTGAGGGCCA 0.657 SLC45A1 50651 broad.mit.edu 37 1 8384692 8384692 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:8384692C>T uc001apb.2 + 1 303 c.303C>T c.(301-303)TAC>TAT p.Y101Y NM_001080397 NP_001073866 Q9Y2W3 S45A1_HUMAN DNB5 101 Helical; (Potential). carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|pancreas(1)|skin(1) 4 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) AGTTCAGCTACGCCATGGAGA 0.632 RERE 473 broad.mit.edu 37 1 8420774 8420774 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:8420774C>T uc001ape.2 - 19 3603 c.2793G>A c.(2791-2793)CCG>CCA p.P931P RERE_uc001apf.2_Silent_p.P931P|RERE_uc010nzx.1_Silent_p.P663P|RERE_uc001apd.2_Silent_p.P377P NM_012102 NP_036234 Q9P2R6 RERE_HUMAN atrophin-1 like protein isoform a 931 Pro-rich. 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) GAGTGGTAGGCGGGGGCTTGA 0.687 CA6 765 broad.mit.edu 37 1 9017324 9017324 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:9017324G>A uc001apm.2 + 3 412 c.388G>A c.(388-390)GGG>AGG p.G130R CA6_uc009vmn.2_Missense_Mutation_p.G70R NM_001215 NP_001206 P23280 CAH6_HUMAN carbonic anhydrase VI precursor 130 one-carbon metabolic process extracellular region carbonate dehydratase activity|zinc ion binding ovary(2) 2 Ovarian(185;0.112)|all_lung(157;0.143) all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649) CACCGTGGACGGGATCAGACA 0.483 TMEM201 199953 broad.mit.edu 37 1 9656943 9656943 + Silent SNP C C T rs143914018 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:9656943C>T uc001apz.2 + 3 273 c.261C>T c.(259-261)CCC>CCT p.P87P TMEM201_uc001apy.2_Silent_p.P87P NM_001130924 NP_001124396 Q5SNT2 TM201_HUMAN transmembrane protein 201 isoform 1 87 integral to membrane|nuclear inner membrane 0 all_lung(157;0.222) all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419) AGCCGATCCCCGCCCAGTACT 0.672 NMNAT1 64802 broad.mit.edu 37 1 10042553 10042553 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:10042553G>A uc001aqp.2 + 5 778 c.634G>A c.(634-636)GTG>ATG p.V212M NM_022787 NP_073624 Q9HAN9 NMNA1_HUMAN nicotinamide mononucleotide adenylyltransferase 212 water-soluble vitamin metabolic process nucleoplasm ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding 0 all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419) CAACATTCACGTGGTGAATGA 0.483 CASZ1 54897 broad.mit.edu 37 1 10706296 10706296 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:10706296C>T uc001aro.2 - 17 3905 c.3585G>A c.(3583-3585)ACG>ACA p.T1195T NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN castor homolog 1, zinc finger isoform a 1195 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding skin(1) 1 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) CCTTGCCAGACGTTTTGCAGA 0.537 MTOR 2475 broad.mit.edu 37 1 11168277 11168277 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:11168277G>A uc001asd.2 - 57 7716 c.7595C>T c.(7594-7596)GCG>GTG p.A2532V MTOR_uc001asc.2_Missense_Mutation_p.A737V NM_004958 NP_004949 P42345 MTOR_HUMAN FK506 binding protein 12-rapamycin associated 2532 FATC. cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2) 29 ATGGGATGTCGCTTGTTTGAT 0.473 KAZ 23254 broad.mit.edu 37 1 15428216 15428216 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:15428216G>T uc001avm.3 + 11 2006 c.1725G>T c.(1723-1725)CAG>CAT p.Q575H KAZ_uc001avs.3_Missense_Mutation_p.Q22H NM_201628 NP_963922 Q674X7 KAZRN_HUMAN kazrin isoform E 575 SAM 2. keratinization cornified envelope|cytoplasm|desmosome|nucleus 0 AGTTCCACCAGGTCAGCATCC 0.597 RSC1A1 6248 broad.mit.edu 37 1 15987413 15987413 + Silent SNP G G A rs142914242 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:15987413G>A uc010obn.1 + 1 1050 c.1050G>A c.(1048-1050)CCG>CCA p.P350P NM_006511 NP_006502 Q92681 RSCA1_HUMAN regulatory solute carrier protein, family 1, 350 negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport cell junction|Golgi apparatus|nucleus ion channel inhibitor activity ovary(1) 1 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) AATCTTGCCCGTCTATAACGG 0.408 ARHGEF19 128272 broad.mit.edu 37 1 16525645 16525645 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:16525645C>T uc001ayc.1 - 15 2388 c.2251G>A c.(2251-2253)GGC>AGC p.G751S ARHGEF19_uc009voo.1_Missense_Mutation_p.G104S|ARHGEF19_uc001ayb.1_Missense_Mutation_p.G228S NM_153213 NP_694945 Q8IW93 ARHGJ_HUMAN Rho guanine nucleotide exchange factor (GEF) 19 751 SH3. regulation of actin cytoskeleton organization intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity skin(2)|ovary(1) 3 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649) GCCCCCTCACCGTCACTGGTC 0.557 PADI2 11240 broad.mit.edu 37 1 17431556 17431556 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:17431556G>A uc001baf.2 - 2 175 c.93C>T c.(91-93)AGC>AGT p.S31S PADI2_uc010ocm.1_Silent_p.S31S|PADI2_uc001bag.1_Silent_p.S31S NM_007365 NP_031391 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 31 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1) 6 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) CTGGGGCCGCGCTGTGGGGAG 0.572 PAX7 5081 broad.mit.edu 37 1 19062344 19062344 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:19062344C>T uc001bay.2 + 8 1972 c.1374C>T c.(1372-1374)GCC>GCT p.A458A PAX7_uc001baz.2_Silent_p.A456A|PAX7_uc010oct.1_Silent_p.A458A NM_002584 NP_002575 P23759 PAX7_HUMAN paired box 7 isoform 1 458 anti-apoptosis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.A458A(1) PAX7/FOXO1(197) soft_tissue(197)|lung(3)|prostate(1)|ovary(1)|breast(1) 203 Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576) ACCCCGTGGCCGGCTATCAGT 0.672 T FOXO1A alveolar rhabdomyosarcoma HSPG2 3339 broad.mit.edu 37 1 22181934 22181934 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:22181934C>T uc001bfj.2 - 47 5900 c.5860G>A c.(5860-5862)GGT>AGT p.G1954S HSPG2_uc009vqd.2_Missense_Mutation_p.G1955S NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 1954 Ig-like C2-type 4. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CTGGGCCCACCGCCCCCTGCA 0.687 EPHB2 2048 broad.mit.edu 37 1 23208938 23208938 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:23208938G>A uc009vqj.1 + 6 1535 c.1390G>A c.(1390-1392)GGC>AGC p.G464S EPHB2_uc001bge.2_Missense_Mutation_p.G464S|EPHB2_uc001bgf.2_Missense_Mutation_p.G464S|EPHB2_uc010odu.1_Missense_Mutation_p.G464S NM_017449 NP_059145 P29323 EPHB2_HUMAN ephrin receptor EphB2 isoform 1 precursor 464 Fibronectin type-III 2.|Extracellular (Potential). axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity ovary(3)|lung(1)|pancreas(1) 5 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) CCAGCCCAATGGCGTGATCCT 0.612 Hereditary_Prostate_Cancer ASAP3 55616 broad.mit.edu 37 1 23760793 23760793 + Silent SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:23760793G>T uc001bha.2 - 19 2029 c.1905C>A c.(1903-1905)CCC>CCA p.P635P ASAP3_uc001bgy.1_Silent_p.P139P|ASAP3_uc001bgz.1_RNA|ASAP3_uc010odz.1_Silent_p.P504P|ASAP3_uc010oea.1_Silent_p.P626P|ASAP3_uc001bhb.2_Silent_p.P158P NM_017707 NP_060177 Q8TDY4 ASAP3_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH 635 ANK 2. regulation of ARF GTPase activity cytoplasm ARF GTPase activator activity|zinc ion binding large_intestine(1)|ovary(1)|skin(1) 3 TGAGGCAGTCGGGCTGGTTGT 0.493 EXTL1 2134 broad.mit.edu 37 1 26357744 26357744 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:26357744A>G uc001blf.2 + 5 2090 c.1223A>G c.(1222-1224)TAC>TGC p.Y408C NM_004455 NP_004446 Q92935 EXTL1_HUMAN exostoses-like 1 408 Lumenal (Potential). skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) CCCTTCTACTACCTGCAACAG 0.612 ARID1A 8289 broad.mit.edu 37 1 27106862 27106862 + Missense_Mutation SNP G G A rs142069738 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:27106862G>A uc001bmv.1 + 20 6846 c.6473G>A c.(6472-6474)CGA>CAA p.R2158Q ARID1A_uc001bmu.1_Missense_Mutation_p.R1941Q|ARID1A_uc001bmx.1_Missense_Mutation_p.R1004Q|ARID1A_uc009vsm.1_Missense_Mutation_p.R486Q|ARID1A_uc009vsn.1_Missense_Mutation_p.R400Q NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 2158 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.R2158*(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) CTCAGTGACCGAAAGAACCCG 0.597 Mis|N|F|S|D clear cell ovarian carcinoma|RCC MATN1 4146 broad.mit.edu 37 1 31194535 31194535 + Missense_Mutation SNP C C T rs147880584 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:31194535C>T uc001brz.2 - 2 192 c.158G>A c.(157-159)CGG>CAG p.R53Q uc001bsb.1_RNA|MATN1_uc001bsa.1_5'Flank NM_002379 NP_002370 P21941 MATN1_HUMAN matrilin 1, cartilage matrix protein precursor 53 VWFA 1. protein complex assembly proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding central_nervous_system(1) 1 Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649) TTCAACAGGCCGAACGCTGCG 0.607 PUM1 9698 broad.mit.edu 37 1 31452917 31452917 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:31452917G>A uc001bsi.1 - 9 1459 c.1346C>T c.(1345-1347)GCG>GTG p.A449V PUM1_uc001bsf.1_Missense_Mutation_p.A115V|PUM1_uc001bsg.1_Missense_Mutation_p.A262V|PUM1_uc001bsh.1_Missense_Mutation_p.A449V|PUM1_uc001bsj.1_Missense_Mutation_p.A450V|PUM1_uc010oga.1_Missense_Mutation_p.A353V|PUM1_uc001bsk.1_Missense_Mutation_p.A485V|PUM1_uc010ogb.1_Missense_Mutation_p.A390V NM_014676 NP_055491 Q14671 PUM1_HUMAN pumilio 1 isoform 2 449 Ala-rich. cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) ACCTAGTGTCGCTGCTGCAGC 0.493 TMEM39B 55116 broad.mit.edu 37 1 32557419 32557419 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:32557419C>T uc010ogv.1 + 6 880 c.734C>T c.(733-735)ACG>ATG p.T245M TMEM39B_uc010ogt.1_RNA|TMEM39B_uc010ogu.1_Missense_Mutation_p.T118M|TMEM39B_uc001bue.3_Missense_Mutation_p.T246M|TMEM39B_uc001buf.3_Missense_Mutation_p.T46M|TMEM39B_uc010ogw.1_Missense_Mutation_p.T46M NM_018056 NP_060526 Q9GZU3 TM39B_HUMAN transmembrane protein 39B 245 integral to membrane 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) CTGCGGGAGACGTGGAAGCAG 0.642 IQCC 55721 broad.mit.edu 37 1 32672879 32672879 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:32672879G>A uc001bum.2 + 5 644 c.597G>A c.(595-597)GCG>GCA p.A199A IQCC_uc009vua.2_Silent_p.A279A|IQCC_uc010ogz.1_Silent_p.A99A|DCDC2B_uc001bun.2_5'Flank NM_018134 NP_060604 Q4KMZ1 IQCC_HUMAN IQ motif containing C isoform 2 199 ovary(4) 4 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) CCCCAGAGGCGGGCCCGATCA 0.567 GJA4 2701 broad.mit.edu 37 1 35260514 35260514 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:35260514C>T uc001bya.2 + 2 788 c.700C>T c.(700-702)CGC>TGC p.R234C GJA4_uc009vul.2_Missense_Mutation_p.R310C|GJA4_uc009vum.1_Missense_Mutation_p.R234C NM_002060 NP_002051 P35212 CXA4_HUMAN connexin 37 234 Cytoplasmic (Potential). cell-cell junction assembly integral to plasma membrane central_nervous_system(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) CCTGCTGTGTCGCTGCCTCAG 0.602 NCDN 23154 broad.mit.edu 37 1 36026733 36026733 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:36026733G>A uc001bza.2 + 4 1108 c.981G>A c.(979-981)ACG>ACA p.T327T NCDN_uc001bzb.2_Silent_p.T327T|NCDN_uc001bzc.2_Silent_p.T310T NM_001014839 NP_001014839 Q9UBB6 NCDN_HUMAN neurochondrin isoform 1 327 neuron projection development cytosol|dendrite|neuronal cell body large_intestine(2)|pancreas(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AGACGGGCACGGAGGTGAAAG 0.627 THRAP3 9967 broad.mit.edu 37 1 36757051 36757051 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:36757051C>T uc001cae.3 + 6 2046 c.1822C>T c.(1822-1824)CGT>TGT p.R608C THRAP3_uc001caf.3_Missense_Mutation_p.R608C NM_005119 NP_005110 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 608 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(5)|lung(3)|breast(1) 9 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) ACAGGAGTTTCGTTCCATTTT 0.463 T USP6 aneurysmal bone cysts MTF1 4520 broad.mit.edu 37 1 38288328 38288328 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:38288328G>A uc001cce.1 - 9 1373 c.1232C>T c.(1231-1233)ACA>ATA p.T411I MTF1_uc009vvj.1_Missense_Mutation_p.T102I NM_005955 NP_005946 Q14872 MTF1_HUMAN metal-regulatory transcription factor 1 411 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding ovary(1)|pancreas(1) 2 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) TGAATTTCCTGTGGATGGCGG 0.473 MTF1 4520 broad.mit.edu 37 1 38305655 38305655 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:38305655G>A uc001cce.1 - 3 725 c.584C>T c.(583-585)ACG>ATG p.T195M MTF1_uc009vvj.1_Translation_Start_Site NM_005955 NP_005946 Q14872 MTF1_HUMAN metal-regulatory transcription factor 1 195 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding ovary(1)|pancreas(1) 2 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CTTCTCCTTCGTGTGCACTCG 0.537 NT5C1A 84618 broad.mit.edu 37 1 40131856 40131856 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:40131856C>T uc001cdq.1 - 2 188 c.188G>A c.(187-189)CGC>CAC p.R63H NM_032526 NP_115915 Q9BXI3 5NT1A_HUMAN 5'-nucleotidase, cytosolic IA 63 purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding ovary(1) 1 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CTCGTCCATGCGAAACAAGGC 0.597 FOXJ3 22887 broad.mit.edu 37 1 42776750 42776750 + Silent SNP T T A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:42776750T>A uc001che.2 - 4 327 c.15A>T c.(13-15)GGA>GGT p.G5G FOXJ3_uc001chf.2_Silent_p.G5G|FOXJ3_uc001chg.2_Silent_p.G5G|FOXJ3_uc001chh.1_Silent_p.G5G NM_014947 NP_055762 Q9UPW0 FOXJ3_HUMAN forkhead box J3 5 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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 ovary(2) 2 Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GACAAGCCTGTCCATACAAAC 0.328 PTPRF 5792 broad.mit.edu 37 1 44069662 44069662 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:44069662C>T uc001cjr.2 + 16 3179 c.2839C>T c.(2839-2841)CGC>TGC p.R947C PTPRF_uc001cjs.2_Missense_Mutation_p.R938C|PTPRF_uc001cju.2_Intron|PTPRF_uc009vwt.2_Missense_Mutation_p.R507C|PTPRF_uc001cjv.2_Missense_Mutation_p.R407C|PTPRF_uc001cjw.2_Missense_Mutation_p.R173C NM_002840 NP_002831 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 947 Fibronectin type-III 7.|Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1) 10 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GAGGAACGGGCGCATCATCAG 0.602 TOE1 114034 broad.mit.edu 37 1 45809251 45809251 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:45809251T>C uc009vxq.2 + 8 1993 c.1410T>C c.(1408-1410)CCT>CCC p.P470P TOE1_uc001cnq.3_RNA|TOE1_uc010olm.1_Silent_p.P390P|TOE1_uc001cnr.3_RNA NM_025077 NP_079353 Q96GM8 TOE1_HUMAN target of EGR1, member 1 (nuclear) 470 nuclear speck|nucleolus nucleic acid binding|zinc ion binding central_nervous_system(1) 1 Acute lymphoblastic leukemia(166;0.155) CCTGGCTCCCTGAATGCCACA 0.532 TESK2 10420 broad.mit.edu 37 1 45813598 45813598 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:45813598G>A uc001cns.1 - 6 1018 c.615C>T c.(613-615)CCC>CCT p.P205P TESK2_uc009vxr.1_Silent_p.P205P|TESK2_uc010olo.1_Silent_p.P122P|TESK2_uc009vxs.1_5'UTR NM_007170 NP_009101 Q96S53 TESK2_HUMAN testis-specific protein kinase 2 205 Protein kinase. actin cytoskeleton organization|focal adhesion assembly|spermatogenesis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(2)|breast(2)|pancreas(1) 5 Acute lymphoblastic leukemia(166;0.155) ACCTGACATCGGGGATCTTCT 0.542 CCDC17 149483 broad.mit.edu 37 1 46088681 46088681 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:46088681C>T uc010olt.1 - 4 750 c.602G>A c.(601-603)CGG>CAG p.R201Q CCDC17_uc009vxy.2_Missense_Mutation_p.R169Q|CCDC17_uc010ols.1_Missense_Mutation_p.R192Q|CCDC17_uc001com.3_Missense_Mutation_p.R22Q|CCDC17_uc001con.3_RNA|CCDC17_uc009vxz.2_Intron NM_001114938 NP_001108410 Q96LX7 CCD17_HUMAN coiled-coil domain containing 17 201 Potential. ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) TAGAGCTCCCCGCGTCCTCCC 0.672 GLIS1 148979 broad.mit.edu 37 1 54059810 54059810 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:54059810G>A uc001cvr.1 - 3 1333 c.766C>T c.(766-768)CAC>TAC p.H256Y NM_147193 NP_671726 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 256 C2H2-type 2; atypical. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding skin(1) 1 TCGCCCGAGTGCACTCGCATG 0.662 INADL 10207 broad.mit.edu 37 1 62503676 62503676 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:62503676C>T uc001dab.2 + 30 4101 c.3987C>T c.(3985-3987)GCC>GCT p.A1329A INADL_uc009waf.1_Silent_p.A1329A|INADL_uc001daa.2_Silent_p.A1329A|INADL_uc001dad.3_Silent_p.A1026A|INADL_uc001dac.2_RNA|INADL_uc010oot.1_Silent_p.A113A|INADL_uc009wag.2_Silent_p.A113A|INADL_uc010oou.1_Silent_p.A2A NM_176877 NP_795352 Q8NI35 INADL_HUMAN InaD-like 1329 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding ovary(3)|skin(1) 4 ATCAGATGGCCGTTACTCCCT 0.378 MIER1 57708 broad.mit.edu 37 1 67450349 67450349 + Missense_Mutation SNP A A C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:67450349A>C uc001dde.2 + 14 1598 c.1464A>C c.(1462-1464)AAA>AAC p.K488N MIER1_uc010opf.1_Intron|MIER1_uc009way.2_Intron|MIER1_uc001ddc.2_Intron|MIER1_uc001ddh.2_Intron|MIER1_uc001ddf.2_Missense_Mutation_p.K452N|MIER1_uc001ddg.2_Missense_Mutation_p.K408N|MIER1_uc010opg.1_Missense_Mutation_p.K452N|MIER1_uc001ddj.1_Missense_Mutation_p.K435N|MIER1_uc001ddi.2_Intron NM_001077700 NP_001071168 Q8N108 MIER1_HUMAN mesoderm induction early response 1 isoform b 459 positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity ovary(1) 1 GAAATAAGAAACCACTTCATG 0.363 SERBP1 26135 broad.mit.edu 37 1 67880887 67880887 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:67880887G>A uc001ddv.2 - 7 1272 c.1132C>T c.(1132-1134)CGT>TGT p.R378C SERBP1_uc001ddx.2_Missense_Mutation_p.R372C|SERBP1_uc001ddy.2_Missense_Mutation_p.R357C|SERBP1_uc001ddw.2_Missense_Mutation_p.R363C NM_001018067 NP_001018077 Q8NC51 PAIRB_HUMAN SERPINE1 mRNA binding protein 1 isoform 1 378 regulation of mRNA stability nucleus|perinuclear region of cytoplasm mRNA 3'-UTR binding|protein binding skin(1) 1 CGCCCACCACGCCCACGTCCA 0.532 TNNI3K 51086 broad.mit.edu 37 1 74957869 74957869 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:74957869G>A uc001dgf.1 + 23 2321 c.2270G>A c.(2269-2271)CGG>CAG p.R757Q TNNI3K_uc001dge.1_Missense_Mutation_p.R858Q NM_015978 NP_057062 Q59H18 TNI3K_HUMAN TNNI3 interacting kinase isoform b 757 cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 10 GGACCTGGCCGGAGTCATGTG 0.488 C1orf173 127254 broad.mit.edu 37 1 75037295 75037295 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:75037295C>T uc001dgg.2 - 14 4318 c.4099G>A c.(4099-4101)GAG>AAG p.E1367K NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 1367 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 GTTTTCTCCTCGGCTGTCTCC 0.517 FUBP1 8880 broad.mit.edu 37 1 78422353 78422353 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:78422353A>G uc001dii.2 - 17 1698 c.1609T>C c.(1609-1611)TGG>CGG p.W537R FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Missense_Mutation_p.W558R NM_003902 NP_003893 Q96AE4 FUBP1_HUMAN far upstream element-binding protein 537 Pro-rich. transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(2)|lung(1) 3 TAAGCAGCCCAAGCTGCTGAA 0.453 PKN2 5586 broad.mit.edu 37 1 89206691 89206691 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:89206691G>A uc001dmn.2 + 2 411 c.69G>A c.(67-69)CCG>CCA p.P23P PKN2_uc001dmm.1_Silent_p.P23P|PKN2_uc010osp.1_Silent_p.P23P|PKN2_uc010osq.1_Intron|PKN2_uc009wcv.2_Silent_p.P23P NM_006256 NP_006247 Q16513 PKN2_HUMAN protein kinase N2 23 signal transduction cytoplasm ATP binding|histone deacetylase binding|protein kinase C activity large_intestine(1)|lung(1)|skin(1) 3 Lung NSC(277;0.123) all cancers(265;0.0136)|Epithelial(280;0.0301) GAAGTCTTCCGTTTTCTGAGA 0.378 HFM1 164045 broad.mit.edu 37 1 91844741 91844741 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:91844741C>T uc001doa.3 - 9 1137 c.1037G>A c.(1036-1038)CGT>CAT p.R346H HFM1_uc010osu.1_Missense_Mutation_p.R25H|HFM1_uc010osv.1_Missense_Mutation_p.R30H|HFM1_uc001doc.1_Missense_Mutation_p.R346H NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN HFM1 protein 346 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding 0 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) GTCATCAAAACGCTGACTGCA 0.323 EVI5 7813 broad.mit.edu 37 1 93029202 93029202 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:93029202A>G uc001dox.2 - 17 2125 c.2115T>C c.(2113-2115)CAT>CAC p.H705H EVI5_uc010otf.1_Silent_p.H716H|EVI5_uc001doy.1_RNA NM_005665 NP_005656 O60447 EVI5_HUMAN ecotropic viral integration site 5 705 Targeting to the centrosomes.|Potential.|Interaction with AURKB and INCENP. cell cycle|cell division|cell proliferation|multicellular organismal development microtubule organizing center|nucleus|spindle protein binding|Rab GTPase activator activity ovary(1)|breast(1) 2 all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203) Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211) CACTTACCTCATGATTCAGCT 0.358 KCNA2 3737 broad.mit.edu 37 1 111146149 111146149 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:111146149C>T uc001dzu.2 - 2 1752 c.1256G>A c.(1255-1257)CGG>CAG p.R419Q KCNA2_uc009wfv.1_Intron|KCNA2_uc009wfw.2_Missense_Mutation_p.R419Q NM_004974 NP_004965 P16389 KCNA2_HUMAN potassium voltage-gated channel, shaker-related 419 juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(1) 1 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) CTCTGTCTCCCGGTGGTAGAA 0.498 WNT2B 7482 broad.mit.edu 37 1 113033683 113033683 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:113033683G>A uc001eca.2 + 2 225 c.105G>A c.(103-105)GCG>GCA p.A35A WNT2B_uc009wgg.2_Intron NM_004185 NP_004176 Q93097 WNT2B_HUMAN wingless-type MMTV integration site family, Error:Variant_position_missing_in_Q93097_after_alignment chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding|signal transducer activity ovary(2)|breast(2)|skin(1) 5 Lung SC(450;0.246) all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) cacagtcagcgttcaacaagt 0.07 SLC22A15 55356 broad.mit.edu 37 1 116609275 116609275 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:116609275G>A uc001egb.3 + 11 1630 c.1500G>A c.(1498-1500)TCG>TCA p.S500S NM_018420 NP_060890 Q8IZD6 S22AF_HUMAN solute carrier family 22, member 15 500 ion transport integral to membrane transmembrane transporter activity large_intestine(2) 2 Lung SC(450;0.184) all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) AGGTGTATTCGTATCGCAGGC 0.488 IGSF3 3321 broad.mit.edu 37 1 117146451 117146451 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:117146451C>T uc001egr.1 - 6 2124 c.1419G>A c.(1417-1419)TCG>TCA p.S473S IGSF3_uc001egq.1_Silent_p.S493S|IGSF3_uc001egs.1_Silent_p.S146S NM_001007237 NP_001007238 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 isoform 2 473 Ig-like C2-type 4.|Extracellular (Potential). integral to membrane ovary(2) 2 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) CCCAGTAGGACGAGCCTGGCT 0.622 TRIM45 80263 broad.mit.edu 37 1 117661189 117661189 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:117661189A>G uc001egz.2 - 2 1277 c.689T>C c.(688-690)GTC>GCC p.V230A TRIM45_uc009whe.2_Missense_Mutation_p.V230A|TRIM45_uc001eha.2_Missense_Mutation_p.V126A NM_025188 NP_079464 Q9H8W5 TRI45_HUMAN tripartite motif-containing 45 isoform 1 230 cytoplasm|nucleus zinc ion binding central_nervous_system(1) 1 Lung SC(450;0.225) all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389) Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187) CTTGTGGATGACATTGCTGGT 0.577 SPAG17 200162 broad.mit.edu 37 1 118634309 118634309 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:118634309T>C uc001ehk.2 - 10 1347 c.1279A>G c.(1279-1281)AGA>GGA p.R427G NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 427 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TTGTAATATCTCATGTCTACT 0.373 SPAG17 200162 broad.mit.edu 37 1 118642346 118642346 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:118642346C>T uc001ehk.2 - 6 780 c.712G>A c.(712-714)GCT>ACT p.A238T NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 238 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CCAAGCTCAGCCATAATTGCT 0.418 ADAM30 11085 broad.mit.edu 37 1 120437609 120437609 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:120437609G>A uc001eij.2 - 1 1505 c.1351C>T c.(1351-1353)CGT>TGT p.R451C NM_021794 NP_068566 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 preproprotein 451 Disintegrin.|Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding ovary(2)|lung(1) 3 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) CCAGATGGACGAAACCGACAA 0.463 POLR3C 10623 broad.mit.edu 37 1 145608566 145608566 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:145608566G>A uc001eoh.2 - 3 402 c.241C>T c.(241-243)CGG>TGG p.R81W NBPF10_uc001emp.3_Intron|RNF115_uc001eoj.2_5'Flank|RNF115_uc001eok.2_5'Flank|RNF115_uc009wiy.2_5'Flank|POLR3C_uc001eog.2_Missense_Mutation_p.R94W|POLR3C_uc001eoi.2_Intron|POLR3C_uc009wix.2_Missense_Mutation_p.R81W NM_006468 NP_006459 Q9BUI4 RPC3_HUMAN polymerase (RNA) III (DNA directed) polypeptide 81 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity ovary(1) 1 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) Epithelial(2;7.55e-13) CGCAATACCCGGCTGCACTGG 0.483 PLEKHO1 51177 broad.mit.edu 37 1 150123100 150123100 + Splice_Site SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:150123100A>G uc001ett.2 + 2 309 c.31_splice c.e2-2 p.G11_splice PLEKHO1_uc001etr.2_Splice_Site|PLEKHO1_uc001ets.2_Splice_Site NM_016274 NP_057358 Q53GL0 PKHO1_HUMAN pleckstrin homology domain containing, family O cytoplasm|nucleus|plasma membrane lung(1) 1 Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) GTCCTGGGGCAGGGACCTCAG 0.617 VPS72 6944 broad.mit.edu 37 1 151149142 151149142 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:151149142C>T uc001exe.1 - 6 1116 c.1073G>A c.(1072-1074)CGC>CAC p.R358H TMOD4_uc001exd.2_5'Flank|TMOD4_uc001exc.3_5'Flank|TMOD4_uc010pct.1_5'Flank NM_005997 NP_005988 Q15906 VPS72_HUMAN transcription factor-like 1 358 chromatin modification|negative regulation of transcription from RNA polymerase II promoter nucleus|protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|pancreas(1) 2 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) AATTTTCTGGCGCAAGGCTCG 0.582 ZNF687 57592 broad.mit.edu 37 1 151261166 151261166 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:151261166C>T uc001exq.2 + 3 2376 c.2278C>T c.(2278-2280)CGC>TGC p.R760C ZNF687_uc009wmo.2_Missense_Mutation_p.R760C|ZNF687_uc009wmp.2_Missense_Mutation_p.R760C NM_020832 NP_065883 Q8N1G0 ZN687_HUMAN zinc finger protein 687 760 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding central_nervous_system(3)|ovary(1) 4 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GCACGTCTCTCGCCGTGTAGG 0.562 FLG 2312 broad.mit.edu 37 1 152275642 152275642 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:152275642C>T uc001ezu.1 - 3 11756 c.11720G>A c.(11719-11721)CGC>CAC p.R3907H NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3907 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) GGCTGTATCGCGGTGAGAGGA 0.502 Ichthyosis FLG 2312 broad.mit.edu 37 1 152283084 152283084 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:152283084G>A uc001ezu.1 - 3 4314 c.4278C>T c.(4276-4278)TCC>TCT p.S1426S uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1426 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) GGCCACGTGCGGACTCTTTGT 0.557 Ichthyosis FLG 2312 broad.mit.edu 37 1 152284397 152284397 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:152284397G>A uc001ezu.1 - 3 3001 c.2965C>T c.(2965-2967)CAC>TAC p.H989Y uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 989 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) CTGTCTTCGTGATGGGACCTG 0.572 Ichthyosis FLG 2312 broad.mit.edu 37 1 152284999 152284999 + Missense_Mutation SNP C C T rs142483068 byFrequency TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:152284999C>T uc001ezu.1 - 3 2399 c.2363G>A c.(2362-2364)CGA>CAA p.R788Q uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 788 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) CCCTGAACGTCGAGACCTTTC 0.567 Ichthyosis LCE2C 353140 broad.mit.edu 37 1 152648744 152648744 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:152648744C>T uc001fah.2 + 2 308 c.253C>T c.(253-255)CGG>TGG p.R85W NM_178429 NP_848516 Q5TA81 LCE2C_HUMAN late cornified envelope 2C 85 Cys-rich. keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCACCGGCGCCGGCACCAGAG 0.682 UBAP2L 9898 broad.mit.edu 37 1 154229634 154229634 + Missense_Mutation SNP T T A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:154229634T>A uc001fep.3 + 19 2420 c.2253T>A c.(2251-2253)AGT>AGA p.S751R UBAP2L_uc009wot.2_Missense_Mutation_p.S751R|UBAP2L_uc010pek.1_Missense_Mutation_p.S743R|UBAP2L_uc010pel.1_Missense_Mutation_p.S761R|UBAP2L_uc010pen.1_Missense_Mutation_p.S665R|UBAP2L_uc001feq.2_5'UTR|UBAP2L_uc001fer.2_5'UTR NM_014847 NP_055662 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like isoform a 751 binding of sperm to zona pellucida protein binding ovary(1)|central_nervous_system(1) 2 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CAGTGGTCAGTGTCTCCTCCA 0.552 ADAR 103 broad.mit.edu 37 1 154557387 154557387 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:154557387G>A uc001ffh.2 - 15 3776 c.3576C>T c.(3574-3576)TAC>TAT p.Y1192Y ADAR_uc001ffj.2_Silent_p.Y1147Y|ADAR_uc001ffi.2_Silent_p.Y1166Y|ADAR_uc001ffk.2_Silent_p.Y897Y NM_001111 NP_001102 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific isoform a 1192 A to I editase. adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) TGGCCGTCTCGTAGTCACGGG 0.473 HCN3 57657 broad.mit.edu 37 1 155252423 155252423 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:155252423G>A uc001fjz.1 + 2 508 c.500G>A c.(499-501)CGC>CAC p.R167H RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_5'UTR NM_020897 NP_065948 Q9P1Z3 HCN3_HUMAN hyperpolarization activated cyclic 167 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1)|breast(1) 2 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) ATCCGCACGCGCTACCTGCGC 0.587 LMNA 4000 broad.mit.edu 37 1 156108451 156108451 + Missense_Mutation SNP G G A rs13768 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:156108451G>A uc001fni.2 + 11 2120 c.1871G>A c.(1870-1872)CGC>CAC p.R624H LMNA_uc001fnf.1_3'UTR|LMNA_uc001fnh.2_Missense_Mutation_p.R594H|LMNA_uc009wro.1_Intron|LMNA_uc001fnj.2_3'UTR|LMNA_uc001fnk.2_Missense_Mutation_p.R525H|LMNA_uc010pha.1_3'UTR|LMNA_uc010phb.1_RNA NM_170707 NP_733821 P02545 LMNA_HUMAN lamin A/C isoform 1 precursor 624 Tail. R -> H (in EDMD2). cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration cytoplasm|lamin filament|nuclear envelope|nuclear envelope|perinuclear region of cytoplasm protein binding|structural molecule activity|structural molecule activity ovary(2) 2 Hepatocellular(266;0.158) ACGGTCACTCGCAGCTACCGC 0.677 Werner_syndrome|Hutchinson-Gilford_Progeria_Syndrome CCT3 7203 broad.mit.edu 37 1 156303398 156303398 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:156303398C>T uc001fol.1 - 5 464 c.244G>A c.(244-246)GAA>AAA p.E82K CCT3_uc001fom.1_Missense_Mutation_p.E82K|CCT3_uc001fon.1_Missense_Mutation_p.E44K|CCT3_uc010phj.1_Missense_Mutation_p.E36K|CCT3_uc010phk.1_Missense_Mutation_p.E36K|CCT3_uc010phl.1_Missense_Mutation_p.E36K NM_005998 NP_005989 P49368 TCPG_HUMAN chaperonin containing TCP1, subunit 3 isoform a 82 'de novo' posttranslational protein folding cytoskeleton|cytosol|plasma membrane ATP binding|unfolded protein binding ovary(1)|skin(1) 2 Hepatocellular(266;0.158) CGGCTAATTTCGATCATGGAC 0.423 PEAR1 375033 broad.mit.edu 37 1 156883740 156883740 + Missense_Mutation SNP G G C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:156883740G>C uc001fqj.1 + 22 2926 c.2810G>C c.(2809-2811)GGC>GCC p.G937A PEAR1_uc001fqk.1_Missense_Mutation_p.G562A NM_001080471 NP_001073940 Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 937 Pro-rich. integral to membrane ovary(2)|central_nervous_system(1) 3 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TTGCCAGGGGGCCCCCGGGAG 0.647 OR10T2 128360 broad.mit.edu 37 1 158368816 158368816 + Silent SNP A A C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:158368816A>C uc010pih.1 - 1 441 c.441T>G c.(439-441)TCT>TCG p.S147S NM_001004475 NP_001004475 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, 147 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_hematologic(112;0.0378) CTCCTGAGAGAGAAATCAACT 0.458 SPTA1 6708 broad.mit.edu 37 1 158621239 158621239 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:158621239G>T uc001fst.1 - 24 3594 c.3395C>A c.(3394-3396)CCT>CAT p.P1132H NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1132 Spectrin 11. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CCTTAGCCGAGGCTCATTGGT 0.423 SLAMF8 56833 broad.mit.edu 37 1 159799702 159799702 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:159799702C>T uc001fue.3 + 2 297 c.87C>T c.(85-87)GTC>GTT p.V29V NM_020125 NP_064510 Q9P0V8 SLAF8_HUMAN SLAM family member 8 precursor 29 Extracellular (Potential). integral to membrane 0 all_hematologic(112;0.0597) TGAGCAAAGTCGGGGGCTCGG 0.602 HSD17B7 51478 broad.mit.edu 37 1 162762614 162762614 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:162762614G>A uc001gci.2 + 2 296 c.201G>A c.(199-201)CTG>CTA p.L67L HSD17B7_uc009wuv.2_RNA NM_016371 NP_057455 P56937 DHB7_HUMAN hydroxysteroid (17-beta) dehydrogenase 7 67 Extracellular (Potential). cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity ovary(1) 1 all_hematologic(112;0.115) NADH(DB00157) TCAGCAACCTGCAGTCGGTCT 0.493 ATP1B1 481 broad.mit.edu 37 1 169100579 169100579 + RNA SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:169100579G>A uc001gfs.1 + 6 c.823G>A P05026 AT1B1_HUMAN Synthetic construct DNA, clone: pF1KB8186, Homo sapiens ATP1B1 gene for ATPase, Na+/K+ transporting, beta 1 polypeptide, without stop codon, in Flexi system. ATP biosynthetic process|blood coagulation|leukocyte migration sodium:potassium-exchanging ATPase complex protein binding|sodium:potassium-exchanging ATPase activity ovary(1) 1 all_hematologic(923;0.208) TTTGGACTGGGCAACTCCCCT 0.443 RC3H1 149041 broad.mit.edu 37 1 173912741 173912741 + Silent SNP T T G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:173912741T>G uc001gju.3 - 17 3061 c.2974A>C c.(2974-2976)AGG>CGG p.R992R RC3H1_uc010pms.1_Intron|RC3H1_uc001gjv.2_Intron|RC3H1_uc010pmt.1_Silent_p.R992R NM_172071 NP_742068 Q5TC82 RC3H1_HUMAN roquin 992 cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 AACACCAGCCTGTTACTAACA 0.532 RC3H1 149041 broad.mit.edu 37 1 173953746 173953746 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:173953746C>T uc001gju.3 - 2 330 c.243G>A c.(241-243)CAG>CAA p.Q81Q RC3H1_uc010pms.1_Silent_p.Q81Q|RC3H1_uc001gjv.2_Silent_p.Q81Q|RC3H1_uc010pmt.1_Silent_p.Q81Q NM_172071 NP_742068 Q5TC82 RC3H1_HUMAN roquin 81 cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 TAATAGGCTGCTGCTCAGGGA 0.388 XPR1 9213 broad.mit.edu 37 1 180775653 180775653 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:180775653C>A uc001goi.2 + 6 833 c.641C>A c.(640-642)GCT>GAT p.A214D XPR1_uc009wxm.2_Missense_Mutation_p.A214D|XPR1_uc009wxn.2_Missense_Mutation_p.A214D NM_004736 NP_004727 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 214 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity 0 AGACAAAAGGCTATGAAGCGT 0.383 ZNF648 127665 broad.mit.edu 37 1 182026636 182026636 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:182026636A>G uc001goz.2 - 2 718 c.510T>C c.(508-510)AAT>AAC p.N170N NM_001009992 NP_001009992 Q5T619 ZN648_HUMAN zinc finger protein 648 170 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GATACTTTCCATTGCTGGGGA 0.577 C1orf21 81563 broad.mit.edu 37 1 184446659 184446659 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:184446659G>A uc001gqv.1 + 2 493 c.16G>A c.(16-18)GCC>ACC p.A6T NM_030806 NP_110433 Q9H246 CA021_HUMAN chromosome 1 open reading frame 21 6 0 Breast(1374;0.00262) Colorectal(1306;4.8e-08)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314) CTGTGCCTCCGCCAAGCATGT 0.463 TPR 7175 broad.mit.edu 37 1 186313658 186313658 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:186313658T>C uc001grv.2 - 25 3563 c.3266A>G c.(3265-3267)CAT>CGT p.H1089R NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 1089 Potential. carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) ATCAGCAGCATGCAGCATCAA 0.383 T NTRK1 papillary thyroid PTGS2 5743 broad.mit.edu 37 1 186645044 186645044 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:186645044G>A uc001gsb.2 - 8 1380 c.1243C>T c.(1243-1245)CAA>TAA p.Q415* PTGS2_uc009wyo.2_Nonsense_Mutation_p.Q262* NM_000963 NP_000954 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 precursor 415 cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity ovary(1)|central_nervous_system(1) 2 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580) CCAGCAATTTGCCTGGTGAAT 0.333 RGS2 5997 broad.mit.edu 37 1 192780201 192780201 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:192780201C>A uc001gsl.2 + 4 398 c.365C>A c.(364-366)ACC>AAC p.T122N NM_002923 NP_002914 P41220 RGS2_HUMAN regulator of G-protein signaling 2 122 RGS. cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle cytosol|internal side of plasma membrane|mitochondrion|nucleolus calmodulin binding|GTPase activator activity|signal transducer activity 0 TTCAAAAAAACCAAATCACCC 0.393 B3GALT2 8707 broad.mit.edu 37 1 193149443 193149443 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:193149443C>T uc001gtc.3 - 2 1965 c.1250G>A c.(1249-1251)CGC>CAC p.R417H CDC73_uc001gtb.2_Intron NM_003783 NP_003774 O43825 B3GT2_HUMAN UDP-Gal:betaGlcNAc beta 417 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity ovary(1) 1 TTTACGGTGGCGATACCTGCC 0.368 F13B 2165 broad.mit.edu 37 1 197031010 197031010 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:197031010C>T uc001gtt.1 - 3 399 c.355G>A c.(355-357)GCT>ACT p.A119T NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 119 Sushi 2. blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 TACCCTGAAGCGCAACCATAA 0.403 DENND1B 163486 broad.mit.edu 37 1 197480898 197480898 + Missense_Mutation SNP T T A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:197480898T>A uc010ppe.1 - 21 2053 c.1715A>T c.(1714-1716)GAT>GTT p.D572V DENND1B_uc010ppf.1_RNA NM_001142795 NP_001136267 Q6P3S1 DEN1B_HUMAN DENN/MADD domain containing 1B isoform 1 Error:Variant_position_missing_in_Q6P3S1_after_alignment clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity 0 TCTAAAGAAATCCAAGCTCTT 0.378 KIF21B 23046 broad.mit.edu 37 1 200974489 200974489 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:200974489C>T uc001gvs.1 - 5 996 c.679G>A c.(679-681)GCC>ACC p.A227T KIF21B_uc001gvr.1_Missense_Mutation_p.A227T|KIF21B_uc009wzl.1_Missense_Mutation_p.A227T|KIF21B_uc010ppn.1_Missense_Mutation_p.A227T|KIF21B_uc001gvt.1_Missense_Mutation_p.A10T NM_017596 NP_060066 O75037 KI21B_HUMAN kinesin family member 21B 227 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3)|skin(3) 6 GTGAAGATGGCGTGGGAGCGT 0.637 PKP1 5317 broad.mit.edu 37 1 201289420 201289420 + Missense_Mutation SNP C C T rs146785756 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:201289420C>T uc001gwd.2 + 8 1572 c.1321C>T c.(1321-1323)CGC>TGC p.R441C PKP1_uc001gwe.2_Missense_Mutation_p.R420C|PKP1_uc009wzm.2_Missense_Mutation_p.R28C NM_000299 NP_000290 Q13835 PKP1_HUMAN plakophilin 1 isoform 1b 441 ARM 5. cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development desmosome|intermediate filament|nucleus intermediate filament binding|signal transducer activity|structural constituent of epidermis ovary(2) 2 CGATGCAGGCCGCCAGACCAT 0.373 PPFIA4 8497 broad.mit.edu 37 1 203040880 203040880 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:203040880C>T uc001gyz.2 + 15 2460 c.1867C>T c.(1867-1869)CTG>TTG p.L623L PPFIA4_uc009xaj.2_Silent_p.L1254L|PPFIA4_uc010pqf.1_Silent_p.L836L|PPFIA4_uc001gza.2_Silent_p.L614L|PPFIA4_uc001gzb.1_Silent_p.L309L|PPFIA4_uc001gzc.1_Silent_p.L165L NM_015053 NP_055868 O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f 623 cell communication cell surface|cytoplasm protein binding ovary(4)|skin(1) 5 AGACCGGAAGCTGGATGACGT 0.527 ADORA1 134 broad.mit.edu 37 1 203098074 203098074 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:203098074G>T uc001gze.1 + 3 538 c.105G>T c.(103-105)AAG>AAT p.K35N ADORA1_uc001gzf.1_Missense_Mutation_p.K35N|ADORA1_uc010pqg.1_Translation_Start_Site|ADORA1_uc009xak.1_Translation_Start_Site|ADORA1_uc010pqh.1_Missense_Mutation_p.K68N NM_000674 NP_000665 P30542 AA1R_HUMAN adenosine A1 receptor 35 Cytoplasmic (Potential). induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis integral to plasma membrane large_intestine(1) 1 Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277) GGGCGGTGAAGGTGAACCAGG 0.652 LAMB3 3914 broad.mit.edu 37 1 209811925 209811925 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:209811925A>G uc001hhg.2 - 3 642 c.252T>C c.(250-252)AAT>AAC p.N84N LAMB3_uc009xco.2_Silent_p.N84N|LAMB3_uc001hhh.2_Silent_p.N84N|LAMB3_uc010psl.1_RNA|LAMB3_uc009xcp.1_Silent_p.N84N NM_001017402 NP_001017402 Q13751 LAMB3_HUMAN laminin, beta 3 precursor 84 Laminin N-terminal. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0519) ATGAAGCCACATTCTCTACTC 0.532 SERTAD4 56256 broad.mit.edu 37 1 210415509 210415509 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:210415509G>A uc001hhy.2 + 4 1077 c.898G>A c.(898-900)GAA>AAA p.E300K SERTAD4_uc009xcw.2_Missense_Mutation_p.E300K NM_019605 NP_062551 Q9NUC0 SRTD4_HUMAN SERTA domain containing 4 300 protein binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127) CCTCAGCCACGAACCTGTGGG 0.398 GPATCH2 55105 broad.mit.edu 37 1 217793680 217793680 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:217793680C>T uc001hlf.1 - 2 314 c.218G>A c.(217-219)CGG>CAG p.R73Q GPATCH2_uc001hlg.3_Missense_Mutation_p.R73Q NM_018040 NP_060510 Q9NW75 GPTC2_HUMAN G patch domain containing 2 73 intracellular nucleic acid binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872) ATACGACCTCCGTTTTCTCCC 0.473 RAB3GAP2 25782 broad.mit.edu 37 1 220369638 220369638 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:220369638A>G uc010puk.1 - 10 1078 c.914T>C c.(913-915)ATC>ACC p.I305T RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_5'UTR NM_012414 NP_036546 Q9H2M9 RBGPR_HUMAN rab3 GTPase-activating protein, non-catalytic 305 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(131;0.0443) CCCTACAGTGATATACTGAGA 0.378 LBR 3930 broad.mit.edu 37 1 225594521 225594521 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:225594521G>A uc001hoy.2 - 11 1471 c.1328C>T c.(1327-1329)ACG>ATG p.T443M LBR_uc001hoz.2_Missense_Mutation_p.T443M|LBR_uc001hpa.1_Missense_Mutation_p.T443M NM_002296 NP_002287 Q14739 LBR_HUMAN lamin B receptor 443 cholesterol biosynthetic process integral to nuclear inner membrane chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity ovary(1)|skin(1) 2 Breast(184;0.165) GBM - Glioblastoma multiforme(131;0.117) GTCCATGGTCGTCAACAACGC 0.408 RAB4A 5867 broad.mit.edu 37 1 229422273 229422273 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:229422273T>C uc001hth.2 + 2 280 c.72T>C c.(70-72)ACT>ACC p.T24T RAB4A_uc001hti.2_RNA|RAB4A_uc001htj.2_Intron NM_004578 NP_004569 P20338 RAB4A_HUMAN RAB4A, member RAS oncogene family 19 GTP. GDP binding|GTP binding|GTPase activity ovary(1) 1 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.178) ATGCAGGAACTGGCAAATCTT 0.333 ABCB10 23456 broad.mit.edu 37 1 229667403 229667403 + Missense_Mutation SNP T T G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:229667403T>G uc001htp.3 - 7 1458 c.1415A>C c.(1414-1416)GAG>GCG p.E472A NM_012089 NP_036221 Q9NRK6 ABCBA_HUMAN ATP-binding cassette, sub-family B, member 10 472 Mitochondrial intermembrane (Potential).|Mitochondrial matrix (Potential). integral to mitochondrial membrane|mitochondrial inner membrane ATP binding|oligopeptide-transporting ATPase activity breast(2) 2 Breast(184;0.143)|Ovarian(103;0.249) Prostate(94;0.167) CAGCTTGGGCTCTCTCTCCAG 0.512 URB2 9816 broad.mit.edu 37 1 229772399 229772399 + Missense_Mutation SNP A A C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:229772399A>C uc001hts.1 + 4 2175 c.2039A>C c.(2038-2040)CAG>CCG p.Q680P URB2_uc009xfd.1_Missense_Mutation_p.Q680P NM_014777 NP_055592 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog 680 nucleolus central_nervous_system(2)|ovary(1) 3 CTGTACCTGCAGAAAATGAAA 0.423 NID1 4811 broad.mit.edu 37 1 236142400 236142400 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:236142400C>T uc001hxo.2 - 19 3619 c.3517G>A c.(3517-3519)GTG>ATG p.V1173M NID1_uc009xgd.2_Missense_Mutation_p.V1040M|NID1_uc009xgc.2_Missense_Mutation_p.V254M NM_002508 NP_002499 P14543 NID1_HUMAN nidogen 1 precursor 1173 cell-matrix adhesion basement membrane calcium ion binding large_intestine(1)|pancreas(1) 2 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) AGAGCAACCACGGAATTCCTA 0.488 NID1 4811 broad.mit.edu 37 1 236154336 236154336 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:236154336C>T uc001hxo.2 - 14 2880 c.2778G>A c.(2776-2778)CCG>CCA p.P926P NID1_uc009xgd.2_Silent_p.P793P|NID1_uc009xgc.2_Silent_p.P12P NM_002508 NP_002499 P14543 NID1_HUMAN nidogen 1 precursor 926 cell-matrix adhesion basement membrane calcium ion binding large_intestine(1)|pancreas(1) 2 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) CTTGGTGAATCGGGGGAGCCA 0.532 ZP4 57829 broad.mit.edu 37 1 238048857 238048857 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:238048857C>T uc001hym.2 - 8 994 c.994G>A c.(994-996)GGT>AGT p.G332S LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 332 ZP.|Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TCACCAACACCGTAGTAAGAG 0.483 KIF26B 55083 broad.mit.edu 37 1 245849621 245849621 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:245849621C>T uc001ibf.1 + 12 3776 c.3336C>T c.(3334-3336)GGC>GGT p.G1112G KIF26B_uc001ibg.1_Silent_p.G730G|KIF26B_uc001ibh.1_Silent_p.G354G NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN kinesin family member 26B 1112 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3) 3 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) AGGATTCCGGCGTGGCGTCTA 0.617 OR13G1 441933 broad.mit.edu 37 1 247836183 247836183 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:247836183G>A uc001idi.1 - 1 161 c.161C>T c.(160-162)ACG>ATG p.T54M NM_001005487 NP_001005487 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, 54 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) ATACATGGGCGTATGCAAGGT 0.423 OR2T8 343172 broad.mit.edu 37 1 248084867 248084867 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:248084867T>C uc010pzc.1 + 1 548 c.548T>C c.(547-549)GTG>GCG p.V183A NM_001005522 NP_001005522 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, 183 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CCCGTGCTGGTGCGTTTGGCT 0.552 OR14I1 401994 broad.mit.edu 37 1 248845531 248845531 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:248845531G>A uc001ieu.1 - 1 75 c.75C>T c.(73-75)CAC>CAT p.H25H NM_001004734 NP_001004734 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, 25 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ACAGCCCGGCGTGCAGCACCT 0.493 ZNF692 55657 broad.mit.edu 37 1 249149812 249149812 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:249149812C>T uc001ifc.1 - 8 1071 c.904G>A c.(904-906)GCT>ACT p.A302T ZNF692_uc001iez.1_Missense_Mutation_p.A24T|ZNF692_uc001ifa.1_Missense_Mutation_p.A24T|ZNF692_uc001ifb.1_Missense_Mutation_p.A98T|ZNF692_uc001ifd.1_Missense_Mutation_p.A301T|ZNF692_uc001ife.1_RNA|ZNF692_uc001iff.1_Missense_Mutation_p.A257T|ZNF692_uc010pzr.1_Missense_Mutation_p.A307T NM_017865 NP_060335 Q9BU19 ZN692_HUMAN zinc finger protein 692 isoform 2 302 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) GGGGTTGGAGCAGACTGGGCC 0.632 PFKP 5214 broad.mit.edu 37 10 3155672 3155672 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:3155672G>A uc001igp.2 + 13 1369 c.1333G>A c.(1333-1335)GCC>ACC p.A445T PFKP_uc001igq.2_Missense_Mutation_p.A437T|PFKP_uc009xhr.2_Missense_Mutation_p.A407T|PFKP_uc009xhs.1_Missense_Mutation_p.A229T|PFKP_uc009xht.2_Missense_Mutation_p.A183T|PFKP_uc009xhu.2_5'UTR NM_002627 NP_002618 Q01813 K6PP_HUMAN phosphofructokinase, platelet 445 glycolysis 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1)|lung(1) 3 GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142) CAGGATGCTCGCCATCTATGA 0.642 ITIH5 80760 broad.mit.edu 37 10 7608295 7608295 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:7608295C>T uc001ijq.2 - 13 2304 c.2225G>A c.(2224-2226)CGC>CAC p.R742H ITIH5_uc001ijp.2_Missense_Mutation_p.R528H NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain 742 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 GGTGATAGTGCGCAAGTAAGT 0.532 ITIH5 80760 broad.mit.edu 37 10 7627891 7627891 + Missense_Mutation SNP A A T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:7627891A>T uc001ijq.2 - 8 1160 c.1081T>A c.(1081-1083)TAC>AAC p.Y361N ITIH5_uc001ijp.2_Missense_Mutation_p.Y147N|ITIH5_uc001ijr.1_Missense_Mutation_p.Y361N NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain 361 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 TGGTGAATGTACACTTTCCCA 0.383 UPF2 26019 broad.mit.edu 37 10 11990443 11990443 + Missense_Mutation SNP T T A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:11990443T>A uc001ila.2 - 15 3573 c.3099A>T c.(3097-3099)GAA>GAT p.E1033D UPF2_uc001ilb.2_Missense_Mutation_p.E1033D|UPF2_uc001ilc.2_Missense_Mutation_p.E1033D NM_080599 NP_542166 Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog 1033 Glu-rich.|Sufficient for interaction with EIF4A1 and EIF1. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding central_nervous_system(2)|ovary(1) 3 Renal(717;0.228) cttcttcttcttcatcctctt 0.154 UPF2 26019 broad.mit.edu 37 10 12070898 12070898 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:12070898C>T uc001ila.2 - 2 1465 c.991G>A c.(991-993)GCA>ACA p.A331T UPF2_uc001ilb.2_Missense_Mutation_p.A331T|UPF2_uc001ilc.2_Missense_Mutation_p.A331T|UPF2_uc009xiz.1_Missense_Mutation_p.A331T NM_080599 NP_542166 Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog 331 MIF4G 1. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding central_nervous_system(2)|ovary(1) 3 Renal(717;0.228) AACTTCTCTGCAGCACTCTTT 0.403 CUBN 8029 broad.mit.edu 37 10 16893340 16893340 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:16893340A>G uc001ioo.2 - 60 9609 c.9557T>C c.(9556-9558)GTA>GCA p.V3186A CUBN_uc009xjq.1_RNA NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 3186 CUB 24. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TATGATCCATACACAGTTTAA 0.398 CUBN 8029 broad.mit.edu 37 10 17147455 17147455 + Splice_Site SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:17147455C>T uc001ioo.2 - 11 1282 c.1230_splice c.e11+1 p.I410_splice NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AAAGGACTCACGATGCATTGT 0.418 VIM 7431 broad.mit.edu 37 10 17278320 17278320 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:17278320T>C uc001iou.2 + 9 1714 c.1301T>C c.(1300-1302)GTT>GCT p.V434A VIM_uc001iov.1_Intron|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.V434A|VIM_uc001ioy.1_Missense_Mutation_p.V347A|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Missense_Mutation_p.V392A|VIM_uc001ipc.1_Intron NM_003380 NP_003371 P08670 VIME_HUMAN vimentin 434 Tail. cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 CTCCCTCTGGTTGATACCCAC 0.363 GPR158 57512 broad.mit.edu 37 10 25887748 25887748 + Missense_Mutation SNP C C T rs146528842 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:25887748C>T uc001isj.2 + 11 3253 c.3193C>T c.(3193-3195)CGC>TGC p.R1065C GPR158_uc001isk.2_Missense_Mutation_p.R440C NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 1065 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 CAATCAGAAGCGCATAGATAA 0.458 SVIL 6840 broad.mit.edu 37 10 29839766 29839766 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:29839766G>A uc001iut.1 - 6 1340 c.587C>T c.(586-588)CCG>CTG p.P196L SVIL_uc001iuu.1_Missense_Mutation_p.P196L|SVIL_uc009xld.1_Missense_Mutation_p.P196L NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 196 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) CAGCACCTCCGGGTCGGAAGA 0.612 ZNF33A 7581 broad.mit.edu 37 10 38344404 38344404 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:38344404G>A uc001izh.2 + 5 1527 c.1349G>A c.(1348-1350)CGT>CAT p.R450H ZNF33A_uc001izg.2_Missense_Mutation_p.R451H|ZNF33A_uc010qev.1_Missense_Mutation_p.R457H|ZNF33A_uc001izi.1_Intron NM_006974 NP_008905 Q06730 ZN33A_HUMAN zinc finger protein 33A isoform b 450 C2H2-type 5. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(1) 3 AAATCCTTCCGTGTGACTTCG 0.408 SLC18A3 6572 broad.mit.edu 37 10 50819067 50819067 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:50819067C>T uc001jhw.2 + 1 721 c.281C>T c.(280-282)ACG>ATG p.T94M CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank NM_003055 NP_003046 Q16572 VACHT_HUMAN vesicular acetylcholine transporter 94 Lumenal, vesicle (Potential). neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity ovary(2) 2 AGCGCCTACACGGCCAACACC 0.726 PCDH15 65217 broad.mit.edu 37 10 55782869 55782869 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:55782869C>T uc001jju.1 - 19 2704 c.2309G>A c.(2308-2310)AGC>AAC p.S770N PCDH15_uc010qhq.1_Missense_Mutation_p.S775N|PCDH15_uc010qhr.1_Missense_Mutation_p.S770N|PCDH15_uc010qhs.1_Missense_Mutation_p.S782N|PCDH15_uc010qht.1_Missense_Mutation_p.S777N|PCDH15_uc010qhu.1_Missense_Mutation_p.S770N|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.S770N|PCDH15_uc010qhw.1_Missense_Mutation_p.S733N|PCDH15_uc010qhx.1_Missense_Mutation_p.S699N|PCDH15_uc010qhy.1_Missense_Mutation_p.S775N|PCDH15_uc010qhz.1_Missense_Mutation_p.S770N|PCDH15_uc010qia.1_Missense_Mutation_p.S748N|PCDH15_uc010qib.1_Missense_Mutation_p.S748N|PCDH15_uc001jjw.2_Missense_Mutation_p.S770N NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 770 Extracellular (Potential).|Cadherin 7. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TGTGTAAATGCTCCCATTGGA 0.403 HNSCC(58;0.16) FAM13C 220965 broad.mit.edu 37 10 61029761 61029761 + Missense_Mutation SNP T T G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:61029761T>G uc001jkn.2 - 8 835 c.701A>C c.(700-702)AAC>ACC p.N234T FAM13C_uc001jko.2_Missense_Mutation_p.N234T|FAM13C_uc010qid.1_Missense_Mutation_p.N151T|FAM13C_uc010qie.1_Missense_Mutation_p.N151T|FAM13C_uc010qif.1_Missense_Mutation_p.N256T|FAM13C_uc001jkp.2_Missense_Mutation_p.N151T NM_198215 NP_937858 Q8NE31 FA13C_HUMAN hypothetical protein LOC220965 isoform 1 234 ovary(2) 2 CAGCAGTGGGTTATCACCATC 0.552 ANK3 288 broad.mit.edu 37 10 61835974 61835974 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:61835974C>T uc001jky.2 - 37 4857 c.4665G>A c.(4663-4665)GCG>GCA p.A1555A ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 1555 Ser-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 ATGTAGTTGACGCGCCTAATG 0.418 TET1 80312 broad.mit.edu 37 10 70450964 70450964 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:70450964C>T uc001jok.3 + 12 6309 c.5804C>T c.(5803-5805)ACG>ATG p.T1935M NM_030625 NP_085128 Q8NFU7 TET1_HUMAN CXXC finger 6 1935 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding ovary(5)|lung(2)|prostate(1)|breast(1) 9 GAGCCGCTAACGCCTCATCAG 0.552 SRGN 5552 broad.mit.edu 37 10 70856875 70856875 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:70856875C>T uc001joz.2 + 2 201 c.115C>T c.(115-117)CGC>TGC p.R39C NM_002727 NP_002718 P10124 SRGN_HUMAN serglycin precursor 39 apoptosis|biomineral tissue development|maintenance of granzyme B location in T cell secretory granule|maintenance of protease location in mast cell secretory granule|negative regulation of bone mineralization|negative regulation of cytokine secretion|platelet activation|platelet degranulation|protein maturation by peptide bond cleavage extracellular space|mast cell granule|platelet alpha granule lumen 0 CCAATGGGTGCGCTGCAATCC 0.483 HK1 3098 broad.mit.edu 37 10 71124621 71124621 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:71124621C>T uc001jpl.3 + 4 559 c.458C>T c.(457-459)ACG>ATG p.T153M HK1_uc001jpg.3_Missense_Mutation_p.T141M|HK1_uc001jph.3_Missense_Mutation_p.T157M|HK1_uc001jpi.3_Missense_Mutation_p.T157M|HK1_uc001jpj.3_Missense_Mutation_p.T188M|HK1_uc001jpk.3_Missense_Mutation_p.T152M|HK1_uc009xqd.2_Missense_Mutation_p.T31M NM_000188 NP_000179 P19367 HXK1_HUMAN hexokinase 1 isoform HKI 153 Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane|nucleus ATP binding|glucokinase activity ovary(1) 1 GTGGGATTCACGTTTTCTTTT 0.453 HK1 3098 broad.mit.edu 37 10 71142254 71142254 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:71142254G>A uc001jpl.3 + 10 1378 c.1277G>A c.(1276-1278)CGT>CAT p.R426H HK1_uc001jpg.3_Missense_Mutation_p.R414H|HK1_uc001jph.3_Missense_Mutation_p.R430H|HK1_uc001jpi.3_Missense_Mutation_p.R430H|HK1_uc001jpj.3_Missense_Mutation_p.R461H|HK1_uc001jpk.3_Missense_Mutation_p.R425H|HK1_uc009xqd.2_Missense_Mutation_p.R304H NM_000188 NP_000179 P19367 HXK1_HUMAN hexokinase 1 isoform HKI 426 ATP 1.|Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane|nucleus ATP binding|glucokinase activity ovary(1) 1 TATTCCCGGCGTTTCCACAAG 0.592 CDH23 64072 broad.mit.edu 37 10 73491893 73491893 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:73491893G>A uc001jrx.3 + 31 4242 c.3865G>A c.(3865-3867)GCC>ACC p.A1289T CDH23_uc001jrz.2_Missense_Mutation_p.A905T|C10orf105_uc001jsb.1_Intron|CDH23_uc001jsc.1_Missense_Mutation_p.A97T NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 1289 Cadherin 12.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 CACTGACCAGGCCCCGCCCTT 0.552 CDH23 64072 broad.mit.edu 37 10 73572286 73572286 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:73572286G>A uc001jrx.3 + 65 9807 c.9430G>A c.(9430-9432)GCC>ACC p.A3144T CDH23_uc001jsg.3_Missense_Mutation_p.A904T|CDH23_uc001jsh.3_Missense_Mutation_p.A904T|CDH23_uc001jsi.3_Missense_Mutation_p.A904T|CDH23_uc001jsj.3_Missense_Mutation_p.A41T|CDH23_uc010qjr.1_Missense_Mutation_p.A41T NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 3144 Cytoplasmic (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 GGAGCTGGCCGCCCAGGCGGA 0.642 ZMIZ1 57178 broad.mit.edu 37 10 80968205 80968205 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:80968205C>T uc001kaf.2 + 6 745 c.173C>T c.(172-174)ACG>ATG p.T58M ZMIZ1_uc001kae.2_Missense_Mutation_p.T58M NM_020338 NP_065071 Q9ULJ6 ZMIZ1_HUMAN retinoic acid induced 17 58 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding ovary(2)|breast(1)|skin(1) 4 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) GGCTGTTTGACGGTGAGTCTG 0.622 CDHR1 92211 broad.mit.edu 37 10 85968128 85968128 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:85968128G>A uc001kcv.2 + 11 1162 c.1162G>A c.(1162-1164)GAC>AAC p.D388N CDHR1_uc001kcw.2_Missense_Mutation_p.D388N|CDHR1_uc009xst.2_Missense_Mutation_p.D147N NM_033100 NP_149091 Q96JP9 CDHR1_HUMAN protocadherin 21 precursor 388 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion calcium ion binding|receptor activity ovary(1) 1 CAATGACTCCGACCAGGTGTG 0.572 CDHR1 92211 broad.mit.edu 37 10 85970853 85970853 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:85970853G>A uc001kcv.2 + 13 1417 c.1417G>A c.(1417-1419)GAC>AAC p.D473N CDHR1_uc001kcw.2_Missense_Mutation_p.D473N|CDHR1_uc009xst.2_Intron|CDHR1_uc001kcx.2_5'Flank NM_033100 NP_149091 Q96JP9 CDHR1_HUMAN protocadherin 21 precursor 473 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion calcium ion binding|receptor activity ovary(1) 1 CCCCAAGTTCGACTCCCTCTA 0.592 LDB3 11155 broad.mit.edu 37 10 88428474 88428474 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:88428474G>T uc001kdv.2 + 1 49 c.26G>T c.(25-27)GGG>GTG p.G9V LDB3_uc010qml.1_Missense_Mutation_p.G9V|LDB3_uc010qmm.1_Missense_Mutation_p.G9V|LDB3_uc001kdu.2_Missense_Mutation_p.G9V|LDB3_uc009xsz.2_5'UTR|LDB3_uc001kdr.2_Missense_Mutation_p.G9V|LDB3_uc009xsy.2_Missense_Mutation_p.G9V|LDB3_uc001kds.2_Missense_Mutation_p.G9V|LDB3_uc001kdt.2_RNA NM_007078 NP_009009 O75112 LDB3_HUMAN LIM domain binding 3 isoform 1 9 PDZ. cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding ovary(1) 1 ACCCTGACTGGGCCCGGGCCC 0.642 MMRN2 79812 broad.mit.edu 37 10 88703011 88703011 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:88703011G>A uc001kea.2 - 6 1657 c.1530C>T c.(1528-1530)GAC>GAT p.D510D MMRN2_uc010qmn.1_Silent_p.D153D|MMRN2_uc009xtb.2_Silent_p.D467D NM_024756 NP_079032 Q9H8L6 MMRN2_HUMAN multimerin 2 precursor 510 extracellular space large_intestine(1) 1 CACGCGTGGCGTCCCTCTGGC 0.652 AGAP11 119385 broad.mit.edu 37 10 88768422 88768422 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:88768422C>T uc001kee.2 + 12 1617 c.413C>T c.(412-414)ACA>ATA p.T138I AGAP11_uc001kef.2_Intron NM_133447 NP_597704 Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase 138 PH. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding 0 TGGCTGAAGACATGGAAAAAG 0.448 ANKRD22 118932 broad.mit.edu 37 10 90591679 90591679 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:90591679C>T uc001kfj.3 - 2 494 c.126G>A c.(124-126)ACG>ACA p.T42T NM_144590 NP_653191 Q5VYY1 ANR22_HUMAN ankyrin repeat domain 22 42 ANK 1. 0 Colorectal(252;0.0163) Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05) AGATCAGGGGCGTGTCTCCAT 0.483 ACTA2 59 broad.mit.edu 37 10 90701549 90701549 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:90701549G>A uc001kfp.2 - 5 563 c.447C>T c.(445-447)CGC>CGT p.R149R STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.1_Silent_p.R104R|ACTA2_uc001kfq.2_Silent_p.R149R NM_001613 NP_001604 P62736 ACTA_HUMAN alpha 2 actin 149 R -> C (in AAT6). response to virus cytosol ATP binding 0 Colorectal(252;0.0161) Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018) TACCAGTTGTGCGTCCAGAGG 0.542 KIF20B 9585 broad.mit.edu 37 10 91483813 91483813 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:91483813T>C uc001kgs.1 + 14 1887 c.1815T>C c.(1813-1815)GTT>GTC p.V605V KIF20B_uc001kgr.1_Silent_p.V605V|KIF20B_uc001kgt.1_5'UTR NM_016195 NP_057279 Q96Q89 KI20B_HUMAN M-phase phosphoprotein 1 605 cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding ovary(1)|pancreas(1)|skin(1) 3 GAGAAGAAGTTACACAGGAGT 0.284 PCGF5 84333 broad.mit.edu 37 10 92982626 92982626 + Translation_Start_Site SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:92982626C>T uc001khh.2 + 2 245 c.-2C>T c.(-4-0)CACGA>CATGA PCGF5_uc001khg.2_RNA|PCGF5_uc010qnk.1_Translation_Start_Site|PCGF5_uc001khi.2_Translation_Start_Site NM_032373 NP_115749 Q86SE9 PCGF5_HUMAN polycomb group ring finger 5 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|PcG protein complex zinc ion binding lung(1) 1 TCACTAGCCACGAATGGCTAC 0.458 BTAF1 9044 broad.mit.edu 37 10 93744029 93744029 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:93744029C>T uc001khr.2 + 19 2393 c.2295C>T c.(2293-2295)GAC>GAT p.D765D BTAF1_uc001khs.1_Silent_p.D435D|BTAF1_uc001kht.1_Silent_p.D203D NM_003972 NP_003963 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription 765 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.0846) TATATTATGACGAAATTGCCG 0.348 MYOF 26509 broad.mit.edu 37 10 95069835 95069835 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:95069835C>T uc001kin.2 - 53 6212 c.6089G>A c.(6088-6090)GGC>GAC p.G2030D MYOF_uc001kio.2_Missense_Mutation_p.G2017D|MYOF_uc009xue.2_RNA NM_013451 NP_038479 Q9NZM1 MYOF_HUMAN myoferlin isoform a 2030 Helical; (Potential). blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding ovary(3)|breast(1) 4 GAACAGCAAGCCGATGATGAC 0.542 PDE6C 5146 broad.mit.edu 37 10 95394529 95394529 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:95394529C>T uc001kiu.3 + 9 1272 c.1134C>T c.(1132-1134)GAC>GAT p.D378D NM_006204 NP_006195 P51160 PDE6C_HUMAN phosphodiesterase 6C 378 GAF 2. visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding ovary(2)|kidney(1)|skin(1) 4 Colorectal(252;0.123) GACCTGTAGACGAAACTGGTT 0.303 SORBS1 10580 broad.mit.edu 37 10 97096789 97096789 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:97096789C>T uc001kkp.2 - 28 3173 c.3128G>A c.(3127-3129)CGT>CAT p.R1043H SORBS1_uc001kkk.2_Intron|SORBS1_uc001kkl.2_Intron|SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Intron|SORBS1_uc001kko.2_Intron|SORBS1_uc001kkq.2_Intron|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_Intron|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Intron|SORBS1_uc001kkw.2_Missense_Mutation_p.R997H|SORBS1_uc010qoe.1_Intron NM_001034954 NP_001030126 Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 isoform 3 1043 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity breast(1) 1 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) TGGGGTGGGACGATCTGACCA 0.562 ALDH18A1 5832 broad.mit.edu 37 10 97397115 97397115 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:97397115G>A uc001kkz.2 - 4 624 c.382C>T c.(382-384)CGC>TGC p.R128C ALDH18A1_uc001kky.2_Missense_Mutation_p.R128C|ALDH18A1_uc010qog.1_Missense_Mutation_p.R17C|ALDH18A1_uc010qoh.1_Intron NM_002860 NP_002851 P54886 P5CS_HUMAN pyrroline-5-carboxylate synthetase isoform 1 128 Glutamate 5-kinase. proline biosynthetic process mitochondrial inner membrane ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity pancreas(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.0402) Epithelial(162;9.1e-07)|all cancers(201;2.55e-05) L-Glutamic Acid(DB00142) ATCTCATGGCGCAAGCGTTGT 0.547 SLIT1 6585 broad.mit.edu 37 10 98764573 98764573 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:98764573G>A uc001kmw.2 - 33 3839 c.3587C>T c.(3586-3588)ACG>ATG p.T1196M NM_003061 NP_003052 O75093 SLIT1_HUMAN slit homolog 1 precursor 1196 Laminin G-like. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding ovary(4) 4 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) GTCCTCTGCCGTGGAGACCTG 0.602 RRP12 23223 broad.mit.edu 37 10 99141494 99141494 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:99141494G>A uc001knf.2 - 11 1437 c.1298C>T c.(1297-1299)ACT>ATT p.T433I RRP12_uc009xvm.2_Missense_Mutation_p.T151I|RRP12_uc010qou.1_Missense_Mutation_p.T372I|RRP12_uc009xvn.2_Missense_Mutation_p.T333I NM_015179 NP_055994 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog isoform 1 433 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) CGTAGCAGCAGTCAGCACTTG 0.587 DHDPSL 112817 broad.mit.edu 37 10 99358872 99358872 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:99358872G>A uc001kny.2 + 3 726 c.367G>A c.(367-369)GTC>ATC p.V123I DHDPSL_uc001knx.2_Missense_Mutation_p.V123I|DHDPSL_uc001knz.2_Intron|PI4K2A_uc010qoy.1_Intron NM_138413 NP_612422 Q86XE5 HOGA1_HUMAN DHDPS-like protein isoform 1 123 glyoxylate catabolic process mitochondrion 4-hydroxy-2-oxoglutarate aldolase activity 0 GGAGATGACCGTCAGCATGGC 0.627 CRTAC1 55118 broad.mit.edu 37 10 99695979 99695979 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:99695979G>A uc001kou.1 - 3 725 c.369C>T c.(367-369)GAC>GAT p.D123D CRTAC1_uc001kov.2_Silent_p.D112D|CRTAC1_uc001kot.1_Translation_Start_Site NM_018058 NP_060528 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 precursor 123 FG-GAP 2; atypical. proteinaceous extracellular matrix calcium ion binding ovary(4)|pancreas(1) 5 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) GGCCGTCCCCGTCGATGTCGC 0.637 CNNM1 26507 broad.mit.edu 37 10 101090324 101090324 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:101090324C>T uc001kpp.3 + 1 1469 c.1180C>T c.(1180-1182)CGG>TGG p.R394W CNNM1_uc009xwe.2_Missense_Mutation_p.R394W|CNNM1_uc010qpi.1_Missense_Mutation_p.R394W|CNNM1_uc009xwf.2_Missense_Mutation_p.R394W NM_020348 NP_065081 Q9NRU3 CNNM1_HUMAN cyclin M1 394 DUF21. ion transport integral to membrane|plasma membrane 0 Colorectal(252;0.234) Epithelial(162;6.82e-10)|all cancers(201;5.62e-08) CTTCTACACGCGGGAGAAGTT 0.647 LBX1 10660 broad.mit.edu 37 10 102987489 102987489 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:102987489C>T uc001ksx.2 - 2 529 c.384G>A c.(382-384)TCG>TCA p.S128S uc010qpy.1_5'Flank NM_006562 NP_006553 P52954 LBX1_HUMAN ladybird homeobox 1 128 Homeobox. muscle organ development sequence-specific DNA binding 0 Colorectal(252;0.234) Epithelial(162;3.22e-09)|all cancers(201;1.79e-07) AGGCCGTGCGCGACTTTCGCC 0.587 POLL 27343 broad.mit.edu 37 10 103340084 103340084 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:103340084G>A uc001ktg.1 - 7 2050 c.1284C>T c.(1282-1284)GTC>GTT p.V428V DPCD_uc010qpz.1_Intron|POLL_uc001ktd.1_Silent_p.V101V|POLL_uc001kte.1_Silent_p.V120V|POLL_uc001kth.1_Silent_p.V153V|POLL_uc001kti.1_Silent_p.V428V|POLL_uc001ktj.1_Silent_p.V428V|POLL_uc001ktf.2_Silent_p.V336V|POLL_uc001ktk.1_Silent_p.V167V|POLL_uc010qqa.1_Silent_p.V167V|POLL_uc010qqb.1_RNA|POLL_uc001ktm.2_Silent_p.V428V|POLL_uc001ktl.2_Silent_p.V340V|POLL_uc010qqc.1_Silent_p.V120V NM_013274 NP_037406 Q9UGP5 DPOLL_HUMAN DNA-directed DNA polymerase lambda 428 Involved in primer binding (By similarity). DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes nucleus DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding 0 Colorectal(252;0.234) Epithelial(162;1.55e-08)|all cancers(201;6.64e-07) TGAGCACGTCGACATCACCAC 0.582 DNA_polymerases_(catalytic_subunits) CNNM2 54805 broad.mit.edu 37 10 104679333 104679333 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:104679333C>T uc001kwm.2 + 1 1220 c.1096C>T c.(1096-1098)CGG>TGG p.R366W CNNM2_uc001kwn.2_Missense_Mutation_p.R366W|CNNM2_uc001kwl.2_Missense_Mutation_p.R366W NM_017649 NP_060119 Q9H8M5 CNNM2_HUMAN cyclin M2 isoform 1 366 DUF21. ion transport integral to membrane ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) CATCTGCTCCCGGCATGGCCT 0.617 SH3PXD2A 9644 broad.mit.edu 37 10 105361883 105361883 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:105361883C>T uc001kxj.1 - 14 3148 c.3008G>A c.(3007-3009)CGC>CAC p.R1003H SH3PXD2A_uc010qqr.1_Intron|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.R838H|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.R880H|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.R838H|SH3PXD2A_uc010qqu.1_Missense_Mutation_p.R946H NM_014631 NP_055446 Q5TCZ1 SPD2A_HUMAN SH3 multiple domains 1 1031 cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding 0 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) TTCGGCCAGGCGGCCCTTGGC 0.682 COL17A1 1308 broad.mit.edu 37 10 105824282 105824282 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:105824282G>A uc001kxr.2 - 10 849 c.680C>T c.(679-681)GCG>GTG p.A227V COL17A1_uc010qqv.1_Missense_Mutation_p.A211V|COL17A1_uc009xxp.1_Missense_Mutation_p.A227V NM_000494 NP_000485 Q9UMD9 COHA1_HUMAN alpha 1 type XVII collagen 227 Cytoplasmic (Potential).|Nonhelical region (NC16).|Necessary for interaction with DST and for the recruitment of DST to hemidesmosome. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding ovary(4)|pancreas(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GGAGGACCCCGCGGGCAGGGT 0.587 TDRD1 56165 broad.mit.edu 37 10 115963151 115963151 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:115963151C>T uc001lbg.1 + 8 959 c.806C>T c.(805-807)ACG>ATG p.T269M TDRD1_uc001lbf.2_Missense_Mutation_p.T260M|TDRD1_uc001lbh.1_Missense_Mutation_p.T260M|TDRD1_uc001lbi.1_Missense_Mutation_p.T260M|TDRD1_uc010qsc.1_Translation_Start_Site|TDRD1_uc001lbj.2_Translation_Start_Site NM_198795 NP_942090 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 269 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding 0 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) TGAAAGGGTACGGTTACCGAA 0.348 ATRNL1 26033 broad.mit.edu 37 10 117045787 117045787 + Missense_Mutation SNP T T A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:117045787T>A uc001lcg.2 + 15 2681 c.2295T>A c.(2293-2295)AGT>AGA p.S765R NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 765 C-type lectin.|Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) TCAATTCCAGTAGAGAAAACT 0.333 VAX1 11023 broad.mit.edu 37 10 118897444 118897444 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:118897444C>T uc009xyx.2 - 1 369 c.124G>A c.(124-126)GCC>ACC p.A42T VAX1_uc001ldb.1_Missense_Mutation_p.A42T NM_001112704 NP_001106175 Q5SQQ9 VAX1_HUMAN ventral anterior homeobox 1 isoform a 42 nucleus sequence-specific DNA binding ovary(2) 2 all cancers(201;0.0108) TTGAGGAAGGCGGCTGGGAGG 0.642 INPP5F 22876 broad.mit.edu 37 10 121557041 121557041 + Missense_Mutation SNP T T G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:121557041T>G uc001leo.2 + 8 1103 c.937T>G c.(937-939)TTG>GTG p.L313V NM_014937 NP_055752 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F 313 SAC. phosphoric ester hydrolase activity ovary(2) 2 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) GACTGAGCAGTTGATTCATGT 0.413 FGFR2 2263 broad.mit.edu 37 10 123325038 123325038 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:123325038G>A uc010qtk.1 - 3 937 c.290C>T c.(289-291)GCC>GTC p.A97V FGFR2_uc010qtg.1_Missense_Mutation_p.A97V|FGFR2_uc010qth.1_Intron|FGFR2_uc010qti.1_Intron|FGFR2_uc010qtj.1_Missense_Mutation_p.A97V|FGFR2_uc010qtl.1_Missense_Mutation_p.A97V|FGFR2_uc010qtm.1_Intron|FGFR2_uc001lfl.3_Missense_Mutation_p.A97V|FGFR2_uc001lfm.2_Intron|FGFR2_uc001lfn.3_Intron|FGFR2_uc010qtn.1_Missense_Mutation_p.A116V|FGFR2_uc010qto.1_Intron|FGFR2_uc001lfo.1_Missense_Mutation_p.A116V|FGFR2_uc010qtp.1_Missense_Mutation_p.A116V|FGFR2_uc010qtq.1_Missense_Mutation_p.A116V NM_000141 NP_000132 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 isoform 1 97 Ig-like C2-type 1.|Extracellular (Potential). angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding p.A97T(1) endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1) 96 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) TCTAGGCGTGGCGCCCTTTAT 0.527 5 Mis gastric. NSCLC|endometrial Crouzon|Pfeiffer|and Apert syndromes Apert_syndrome|Saethre-Chotzen_syndrome HMX3 340784 broad.mit.edu 37 10 124896865 124896865 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:124896865G>A uc010quc.1 + 2 692 c.692G>A c.(691-693)CGC>CAC p.R231H NM_001105574 NP_001099044 A6NHT5 HMX3_HUMAN H6 family homeobox 3 231 Homeobox. cell differentiation nucleus sequence-specific DNA binding transcription factor activity 0 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141) AAGAAGACGCGCACAGTCTTC 0.662 CTBP2 1488 broad.mit.edu 37 10 126727703 126727703 + Translation_Start_Site SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:126727703G>A uc009yak.2 - 3 208 c.-79C>T c.(-81--77)CACGC>CATGC CTBP2_uc009yal.2_Translation_Start_Site|CTBP2_uc001lif.3_Translation_Start_Site|CTBP2_uc001lih.3_Translation_Start_Site NM_001329 NP_001320 P56545 CTBP2_HUMAN C-terminal binding protein 2 isoform 1 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding 0 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) AGGAGTCTGCGTGCATGACGC 0.488 DOCK1 1793 broad.mit.edu 37 10 128836060 128836060 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:128836060G>A uc001ljt.2 + 19 1991 c.1927G>A c.(1927-1929)GAT>AAT p.D643N DOCK1_uc010qun.1_Missense_Mutation_p.D664N NM_001380 NP_001371 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 643 DHR-1. apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1) 9 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) GATGAAAGTCGATGGTGGTGA 0.438 FAM196A 642938 broad.mit.edu 37 10 128974539 128974539 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:128974539G>A uc001lju.1 - 1 162 c.121C>T c.(121-123)CGG>TGG p.R41W DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Missense_Mutation_p.R41W|FAM196A_uc001ljv.1_Missense_Mutation_p.R41W|FAM196A_uc009yap.1_Missense_Mutation_p.R41W NM_001039762 NP_001034851 Q6ZSG2 F196A_HUMAN hypothetical protein LOC642938 41 ovary(2) 2 GCTTTGTTCCGTTTTTTAATC 0.577 FAM196A 642938 broad.mit.edu 37 10 128974569 128974569 + Missense_Mutation SNP C C T rs150536495 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:128974569C>T uc001lju.1 - 1 132 c.91G>A c.(91-93)GCC>ACC p.A31T DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Missense_Mutation_p.A31T|FAM196A_uc001ljv.1_Missense_Mutation_p.A31T|FAM196A_uc009yap.1_Missense_Mutation_p.A31T NM_001039762 NP_001034851 Q6ZSG2 F196A_HUMAN hypothetical protein LOC642938 31 ovary(2) 2 GGGTCCAGGGCGTATTTCATC 0.552 NKX6-2 84504 broad.mit.edu 37 10 134598438 134598438 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:134598438G>A uc001llr.2 - 3 901 c.816C>T c.(814-816)GGC>GGT p.G272G NM_177400 NP_796374 Q9C056 NKX62_HUMAN NK6 transcription factor related, locus 2 272 nucleus sequence-specific DNA binding transcription factor activity 0 all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05) CGTCCCCCGCGCCGCCGCCGC 0.667 B4GALNT4 338707 broad.mit.edu 37 11 375665 375665 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:375665G>A uc001lpb.2 + 10 886 c.877G>A c.(877-879)GTG>ATG p.V293M NM_178537 NP_848632 Q76KP1 B4GN4_HUMAN beta 293 Lumenal (Potential). Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity pancreas(1) 1 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) GATGGACCACGTGGCGCACGT 0.652 ANO9 338440 broad.mit.edu 37 11 418466 418466 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:418466G>A uc001lpi.2 - 23 2339 c.2254C>T c.(2254-2256)CAG>TAG p.Q752* SIGIRR_uc001lpf.2_5'Flank|SIGIRR_uc001lpe.1_5'Flank|ANO9_uc001lph.2_Nonsense_Mutation_p.Q445*|ANO9_uc010qvv.1_Nonsense_Mutation_p.Q608* NM_001012302 NP_001012302 A1A5B4 ANO9_HUMAN tumor protein p53 inducible protein 5 752 Cytoplasmic (Potential). chloride channel complex chloride channel activity central_nervous_system(2)|ovary(1)|skin(1) 4 CCCAGCCTCTGCCTTCCATGC 0.627 PTDSS2 81490 broad.mit.edu 37 11 479107 479107 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:479107C>T uc001lpj.2 + 4 566 c.390C>T c.(388-390)TGC>TGT p.C130C PTDSS2_uc009ybv.1_Silent_p.C130C NM_030783 NP_110410 Q9BVG9 PTSS2_HUMAN phosphatidylserine synthase 2 130 Helical; (Potential). integral to membrane 0 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735) Phosphatidylserine(DB00144) TTTGGCTCTGCGTGAGTGTGG 0.562 PHRF1 57661 broad.mit.edu 37 11 598418 598418 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:598418G>A uc001lqe.2 + 9 1071 c.940G>A c.(940-942)GAG>AAG p.E314K PHRF1_uc010qwc.1_Missense_Mutation_p.E314K|PHRF1_uc010qwd.1_Missense_Mutation_p.E313K|PHRF1_uc010qwe.1_Missense_Mutation_p.E310K|PHRF1_uc009ybz.1_Missense_Mutation_p.E105K NM_020901 NP_065952 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 314 Arg-rich. RNA polymerase binding|zinc ion binding 0 TGAAGCCATCGAGGCTGTGGC 0.657 PHRF1 57661 broad.mit.edu 37 11 608437 608437 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:608437G>A uc001lqe.2 + 14 3112 c.2981G>A c.(2980-2982)CGC>CAC p.R994H PHRF1_uc010qwc.1_Missense_Mutation_p.R993H|PHRF1_uc010qwd.1_Missense_Mutation_p.R992H|PHRF1_uc010qwe.1_Missense_Mutation_p.R990H|PHRF1_uc009ybz.1_Missense_Mutation_p.R784H|PHRF1_uc009yca.1_RNA NM_020901 NP_065952 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 994 Arg-rich. RNA polymerase binding|zinc ion binding 0 TCCCGGTCCCGCTCCACATCC 0.677 DEAF1 10522 broad.mit.edu 37 11 686948 686948 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:686948G>A uc001lqq.1 - 5 1407 c.714C>T c.(712-714)ACC>ACT p.T238T DEAF1_uc009ycf.1_RNA NM_021008 NP_066288 O75398 DEAF1_HUMAN deformed epidermal autoregulatory factor 1 238 SAND. embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|cytoplasm|extracellular region|nucleus protein binding|zinc ion binding 0 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075) CCTCAAACTCGGTGGGACTGT 0.602 MUC5B 727897 broad.mit.edu 37 11 1154250 1154250 + Silent SNP C C T rs79836765 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:1154250C>T uc009ycr.1 + 3 222 c.96C>T c.(94-96)TCC>TCT p.S32S NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ATGGCTCCTCCGAATCCAGCT 0.657 CARS 833 broad.mit.edu 37 11 3062131 3062131 + Silent SNP G G A rs61737270 byFrequency TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:3062131G>A uc001lxh.2 - 3 275 c.201C>T c.(199-201)CAC>CAT p.H67H CARS_uc001lxe.2_Silent_p.H57H|CARS_uc001lxf.2_Silent_p.H150H|CARS_uc001lxg.2_Silent_p.H67H|CARS_uc010qxo.1_Silent_p.H150H|CARS_uc010qxp.1_Silent_p.H80H|uc001lxi.1_RNA NM_001751 NP_001742 P49589 SYCC_HUMAN cysteinyl-tRNA synthetase isoform b 67 HIGH region. cysteinyl-tRNA aminoacylation cytoplasm|cytosol ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|protein homodimerization activity|tRNA binding|tRNA binding CARS/ALK(5) soft_tissue(5)|ovary(2) 7 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218) L-Cysteine(DB00151) CCTACCTGGCGTGCCCCATGT 0.537 T ALK ALCL OSBPL5 114879 broad.mit.edu 37 11 3140844 3140844 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:3140844G>A uc001lxk.2 - 7 782 c.624C>T c.(622-624)AGC>AGT p.S208S OSBPL5_uc010qxq.1_Silent_p.S119S|OSBPL5_uc009ydw.2_Silent_p.S140S|OSBPL5_uc001lxl.2_Silent_p.S140S|OSBPL5_uc009ydx.2_Silent_p.S232S NM_020896 NP_065947 Q9H0X9 OSBL5_HUMAN oxysterol-binding protein-like protein 5 isoform 208 PH. cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport cytosol oxysterol binding|protein binding large_intestine(2)|central_nervous_system(1) 3 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) TGGAGCCCACGCTCTCACCTT 0.627 NUP98 4928 broad.mit.edu 37 11 3697469 3697469 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:3697469T>C uc001lyh.2 - 33 5614 c.5323A>G c.(5323-5325)ATG>GTG p.M1775V NUP98_uc001lyi.2_Missense_Mutation_p.M1701V|NUP98_uc001lyg.2_Missense_Mutation_p.M740V NM_016320 NP_057404 P52948 NUP98_HUMAN nucleoporin 98kD isoform 1 1792 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1) 12 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) TCCTCAGGCATGGGAAGCCGG 0.587 T HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11 AML OR51F1 256892 broad.mit.edu 37 11 4790804 4790804 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:4790804C>T uc010qyl.1 - 1 344 c.344G>A c.(343-345)GGA>GAA p.G115E NM_001004752 NP_001004752 A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, 115 integral to membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) CACCAGCACTCCAGATTCCAT 0.428 OR51G1 79324 broad.mit.edu 37 11 4945161 4945161 + Missense_Mutation SNP C C T rs145607331 byFrequency TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:4945161C>T uc010qyr.1 - 1 409 c.409G>A c.(409-411)GTC>ATC p.V137I NM_001005237 NP_001005237 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, 137 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GGTGTCAGGACGGTGGAGTCA 0.512 OR51V1 283111 broad.mit.edu 37 11 5221347 5221347 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:5221347C>T uc010qyz.1 - 1 584 c.584G>A c.(583-585)CGC>CAC p.R195H NM_001004760 NP_001004760 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, 195 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACAGGCTAAGCGGAGAAGATC 0.403 FAM160A2 84067 broad.mit.edu 37 11 6244371 6244371 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:6244371A>G uc001mcl.3 - 4 1234 c.875T>C c.(874-876)CTG>CCG p.L292P FAM160A2_uc001mck.3_Missense_Mutation_p.L292P|FAM160A2_uc001mcm.2_Missense_Mutation_p.L292P NM_001098794 NP_001092264 Q8N612 F16A2_HUMAN hypothetical protein LOC84067 isoform 2 292 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding skin(2) 2 TGGCACTCCCAGCCAGTCTTC 0.542 SMPD1 6609 broad.mit.edu 37 11 6413002 6413002 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:6413002C>T uc001mcw.2 + 2 881 c.707C>T c.(706-708)CCG>CTG p.P236L SMPD1_uc001mcv.1_Intron|SMPD1_uc009yex.2_RNA|SMPD1_uc001mcx.2_Missense_Mutation_p.P236L|SMPD1_uc009yew.2_Missense_Mutation_p.P235L NM_000543 NP_000534 P17405 ASM_HUMAN sphingomyelin phosphodiesterase 1, acid 234 cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction lysosome hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity 0 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) Desipramine(DB01151) TCTGGCCTGCCGCCCGCATCC 0.657 APBB1 322 broad.mit.edu 37 11 6432180 6432180 + Missense_Mutation SNP C C T rs139345068 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:6432180C>T uc001mdb.1 - 2 498 c.398G>A c.(397-399)CGA>CAA p.R133Q APBB1_uc001mdc.1_Missense_Mutation_p.R133Q|APBB1_uc010rah.1_Intron NM_001164 NP_001155 O00213 APBB1_HUMAN amyloid beta A4 precursor protein-binding, 133 apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(2) 2 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) GCCAGGTCCTCGTAGGCCTCG 0.433 OR10A2 341276 broad.mit.edu 37 11 6891024 6891024 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:6891024A>G uc001meu.1 + 1 39 c.39A>G c.(37-39)TTA>TTG p.L13L NM_001004460 NP_001004460 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, 13 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) TACAGTCATTACTCTTTCTGA 0.468 OR10A2 341276 broad.mit.edu 37 11 6891030 6891030 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:6891030T>C uc001meu.1 + 1 45 c.45T>C c.(43-45)TTT>TTC p.F15F NM_001004460 NP_001004460 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, 15 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) CATTACTCTTTCTGACATTTC 0.453 OVCH2 341277 broad.mit.edu 37 11 7716409 7716409 + Nonsense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:7716409G>T uc010rbf.1 - 13 1293 c.1293C>A c.(1291-1293)TGC>TGA p.C431* NM_198185 NP_937828 ovochymase 2 precursor 0 Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197) TTAAGTAACTGCAACCTGAAT 0.398 OREG0020725 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NRIP3 56675 broad.mit.edu 37 11 9009687 9009687 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:9009687T>C uc001mhg.2 - 2 431 c.317A>G c.(316-318)GAC>GGC p.D106G NRIP3_uc010rbu.1_Missense_Mutation_p.D106G NM_020645 NP_065696 Q9NQ35 NRIP3_HUMAN nuclear receptor interacting protein 3 106 proteolysis aspartic-type endopeptidase activity 0 Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241) CAAAATCATGTCATCCTCCTC 0.493 DENND5A 23258 broad.mit.edu 37 11 9191462 9191462 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:9191462G>A uc001mhl.2 - 10 2347 c.2092C>T c.(2092-2094)CGG>TGG p.R698W DENND5A_uc001mhk.2_Missense_Mutation_p.R41W|DENND5A_uc010rbw.1_Missense_Mutation_p.R698W|DENND5A_uc010rbx.1_RNA NM_015213 NP_056028 Q6IQ26 DEN5A_HUMAN RAB6 interacting protein 1 698 liver(1) 1 CGATCTTTCCGCCTCCACTGG 0.438 RPS13 6207 broad.mit.edu 37 11 17098745 17098745 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:17098745C>T uc001mmp.2 - 3 153 c.121G>A c.(121-123)GCC>ACC p.A41T NM_001017 NP_001008 P62277 RS13_HUMAN ribosomal protein S13 41 endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus mRNA binding|protein binding|structural constituent of ribosome 0 CCCTTCTTGGCCAGTTTGTAA 0.483 MYOD1 4654 broad.mit.edu 37 11 17742486 17742486 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:17742486G>A uc001mni.2 + 2 888 c.668G>A c.(667-669)CGG>CAG p.R223Q NM_002478 NP_002469 P15172 MYOD1_HUMAN myogenic differentiation 1 223 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development nuclear chromatin|transcription factor complex E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity breast(2)|ovary(1) 3 gcccggcggcggAACTGCTAC 0.537 SPTY2D1 144108 broad.mit.edu 37 11 18633072 18633072 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:18633072C>T uc001moy.2 - 5 2132 c.1916G>A c.(1915-1917)CGT>CAT p.R639H NM_194285 NP_919261 Q68D10 SPT2_HUMAN SPT2, Suppressor of Ty, domain containing 1 639 breast(1) 1 TTCCATGTAACGTAAGGCATA 0.323 MRGPRX1 259249 broad.mit.edu 37 11 18955510 18955510 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:18955510G>A uc001mpg.2 - 1 1040 c.822C>T c.(820-822)TTC>TTT p.F274F NM_147199 NP_671732 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 274 Helical; Name=7; (Potential). acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(2)|central_nervous_system(1) 3 AGGAGCCCACGAAGAAGTAAA 0.512 PAMR1 25891 broad.mit.edu 37 11 35456304 35456304 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:35456304C>T uc001mwg.2 - 10 1425 c.1382G>A c.(1381-1383)CGC>CAC p.R461H PAMR1_uc001mwf.2_Missense_Mutation_p.R478H|PAMR1_uc010rew.1_Missense_Mutation_p.R350H|PAMR1_uc010rex.1_Missense_Mutation_p.R421H NM_001001991 NP_001001991 Q6UXH9 PAMR1_HUMAN regeneration associated muscle protease isoform 461 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(2) 2 CCACGGCCAGCGCAACCCTTG 0.552 API5 8539 broad.mit.edu 37 11 43351532 43351532 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:43351532G>A uc010rfh.1 + 10 1318 c.1145G>A c.(1144-1146)CGG>CAG p.R382Q API5_uc010rfg.1_Missense_Mutation_p.R371Q|API5_uc001mxf.2_Missense_Mutation_p.R382Q|API5_uc010rfi.1_Missense_Mutation_p.R328Q|API5_uc001mxg.2_Missense_Mutation_p.R256Q NM_001142930 NP_001136402 Q9BZZ5 API5_HUMAN apoptosis inhibitor 5 isoform a 382 Leucine-zipper. anti-apoptosis|apoptosis cytoplasm|spliceosomal complex fibroblast growth factor binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 TACTTTGCACGGGGCCTGCAA 0.368 ACCS 84680 broad.mit.edu 37 11 44102762 44102762 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:44102762C>A uc009yks.1 + 12 1147 c.1003C>A c.(1003-1005)CTG>ATG p.L335M EXT2_uc010rfo.1_Intron|ACCS_uc001mxx.2_Missense_Mutation_p.L335M NM_001127219 NP_001120691 Q96QU6 1A1L1_HUMAN 1-aminocyclopropane-1-carboxylate synthase 335 1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups breast(2)|ovary(1)|lung(1) 4 CTTTGGCACGCTGTACACAGA 0.627 CHST1 8534 broad.mit.edu 37 11 45671251 45671251 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:45671251C>T uc001mys.1 - 4 1894 c.1223G>A c.(1222-1224)CGC>CAC p.R408H NM_003654 NP_003645 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) 408 Lumenal (Potential). galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity skin(4)|pancreas(1) 5 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) CGAGAAGGGGCGGAAGTCCCG 0.632 AMBRA1 55626 broad.mit.edu 37 11 46564257 46564257 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:46564257G>A uc010rgu.1 - 7 1670 c.1310C>T c.(1309-1311)CCG>CTG p.P437L AMBRA1_uc010rgt.1_Missense_Mutation_p.P3L|AMBRA1_uc009ylc.1_Missense_Mutation_p.P437L|AMBRA1_uc001ncu.1_Missense_Mutation_p.P347L|AMBRA1_uc001ncv.2_Missense_Mutation_p.P347L|AMBRA1_uc001ncw.2_Missense_Mutation_p.P347L|AMBRA1_uc001ncx.2_Missense_Mutation_p.P437L NM_017749 NP_060219 Q9C0C7 AMRA1_HUMAN activating molecule in beclin-1-regulated 437 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle large_intestine(1)|ovary(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) GGTTCTGGGCGGGGGCATGGA 0.567 AMBRA1 55626 broad.mit.edu 37 11 46568814 46568814 + Missense_Mutation SNP T T G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:46568814T>G uc010rgu.1 - 4 587 c.227A>C c.(226-228)AAT>ACT p.N76T AMBRA1_uc009ylc.1_Missense_Mutation_p.N76T|AMBRA1_uc001ncu.1_Missense_Mutation_p.N76T|AMBRA1_uc001ncv.2_Missense_Mutation_p.N76T|AMBRA1_uc001ncw.2_Missense_Mutation_p.N76T|AMBRA1_uc001ncx.2_Missense_Mutation_p.N76T NM_017749 NP_060219 Q9C0C7 AMRA1_HUMAN activating molecule in beclin-1-regulated 76 WD 1. autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle large_intestine(1)|ovary(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) AATATAGATATTATGGTTCAC 0.448 OR4B1 119765 broad.mit.edu 37 11 48238681 48238681 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:48238681T>C uc010rhs.1 + 1 320 c.320T>C c.(319-321)GTT>GCT p.V107A NM_001005470 NP_001005470 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, 107 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|pancreas(1) 4 TTCTTTGGGGTTGCTGAGATC 0.423 OR4X1 390113 broad.mit.edu 37 11 48286043 48286043 + Missense_Mutation SNP G G A rs61915300 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:48286043G>A uc010rht.1 + 1 631 c.631G>A c.(631-633)GTG>ATG p.V211M NM_001004726 NP_001004726 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, 211 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 CAGTTTCTTCGTGCTGATGGC 0.557 OR8K5 219453 broad.mit.edu 37 11 55927379 55927379 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:55927379G>A uc010rja.1 - 1 415 c.415C>T c.(415-417)CGA>TGA p.R139* NM_001004058 NP_001004058 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, 139 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) TGACACAGTCGCTGAGACATA 0.403 OR8H1 219469 broad.mit.edu 37 11 56058017 56058017 + Silent SNP A A T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:56058017A>T uc010rje.1 - 1 522 c.522T>A c.(520-522)CGT>CGA p.R174R NM_001005199 NP_001005199 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, 174 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 Esophageal squamous(21;0.00448) AGAAAAAGTGACGAACTACAT 0.448 GLYATL1 92292 broad.mit.edu 37 11 58723451 58723451 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:58723451G>A uc001nnf.2 + 8 1236 c.860G>A c.(859-861)TGT>TAT p.C287Y uc001nng.1_Intron|GLYATL1_uc001nnh.1_Missense_Mutation_p.C318Y|GLYATL1_uc001nni.1_Missense_Mutation_p.C287Y|GLYATL1_uc001nnj.1_Missense_Mutation_p.C287Y Q969I3 GLYL1_HUMAN SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a; 287 mitochondrion glycine N-acyltransferase activity ovary(1) 1 Glycine(DB00145) GAGGCCTCCTGTGAGTGGCAC 0.423 PATL1 219988 broad.mit.edu 37 11 59406604 59406604 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:59406604T>C uc001noe.3 - 18 2351 c.2208A>G c.(2206-2208)CCA>CCG p.P736P NM_152716 NP_689929 Q86TB9 PATL1_HUMAN protein associated with topoisomerase II homolog 736 Region C. cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA cytoplasmic mRNA processing body protein binding|RNA binding ovary(1) 1 GTATAGAGATTGGCTTGGCCA 0.478 AHNAK 79026 broad.mit.edu 37 11 62285596 62285596 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:62285596G>A uc001ntl.2 - 5 16593 c.16293C>T c.(16291-16293)GGC>GGT p.G5431G AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 5431 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) CCTTCAGTTCGCCAGAAACCT 0.527 TUT1 64852 broad.mit.edu 37 11 62349015 62349015 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:62349015G>A uc001nto.2 - 3 584 c.546C>T c.(544-546)CCC>CCT p.P182P NM_022830 NP_073741 Q9H6E5 STPAP_HUMAN terminal uridylyl transferase 1, U6 144 mRNA cleavage|mRNA polyadenylation|snRNA processing nuclear speck|nucleolus ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding central_nervous_system(1)|skin(1) 2 GGTGACTGTCGGGGGCCGCTC 0.652 TTC9C 283237 broad.mit.edu 37 11 62496491 62496491 + Silent SNP G G C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:62496491G>C uc001nuy.2 + 1 540 c.171G>C c.(169-171)CCG>CCC p.P57P HNRNPUL2_uc001nuu.1_5'Flank|HNRNPUL2_uc001nuw.2_5'Flank|TTC9C_uc001nux.2_Silent_p.P190P NM_173810 NP_776171 Q8N5M4 TTC9C_HUMAN tetratricopeptide repeat domain 9C 57 binding ovary(1)|pancreas(1) 2 CTCAGGGCCCGGCCCTCACGC 0.547 MARK2 2011 broad.mit.edu 37 11 63676573 63676573 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:63676573A>G uc001nxw.2 + 19 2810 c.2231A>G c.(2230-2232)GAC>GGC p.D744G MARK2_uc001nxx.2_Missense_Mutation_p.D675G|MARK2_uc001nxy.2_Missense_Mutation_p.D665G|MARK2_uc001nxv.3_Missense_Mutation_p.D680G|MARK2_uc001nxz.3_Missense_Mutation_p.D701G|MARK2_uc009yoy.2_Missense_Mutation_p.D655G NM_001039469 NP_001034558 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 744 KA1. cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity stomach(1)|ovary(1)|lung(1) 3 GGCCACGAGGACTTCGTGCAG 0.597 NAALADL1 10004 broad.mit.edu 37 11 64813303 64813303 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:64813303C>T uc001ocn.2 - 17 2043 c.2027G>A c.(2026-2028)CGC>CAC p.R676H NAALADL1_uc010rnw.1_Missense_Mutation_p.R152H|NAALADL1_uc009ypz.2_RNA NM_005468 NP_005459 Q9UQQ1 NALDL_HUMAN N-acetylated alpha-linked acidic 676 Extracellular (Potential). proteolysis apical plasma membrane|integral to membrane carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity 0 CCTGTAGTAGCGTTCCTCTGG 0.612 PCNXL3 399909 broad.mit.edu 37 11 65392970 65392970 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:65392970C>T uc001oey.2 + 18 3124 c.3124C>T c.(3124-3126)CGC>TGC p.R1042C PCNXL3_uc009yqn.2_Missense_Mutation_p.R2C|PCNXL3_uc001oez.2_5'Flank NM_032223 NP_115599 Q9H6A9 PCX3_HUMAN pecanex-like 3 1042 integral to membrane 0 GGACAAGATGCGCCAGTCGGT 0.701 DKFZp761E198 91056 broad.mit.edu 37 11 65547392 65547392 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:65547392A>G uc001ofo.3 - 1 431 c.401T>C c.(400-402)CTC>CCC p.L134P NM_138368 NP_612377 Q2VPB7 YK046_HUMAN hypothetical protein LOC91056 134 Leu-rich. protein binding 0 READ - Rectum adenocarcinoma(159;0.167) GCGCAAAGCGAGGGCCAGCAA 0.692 GAL3ST3 89792 broad.mit.edu 37 11 65810630 65810630 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:65810630C>T uc001ogv.2 - 2 804 c.644G>A c.(643-645)CGC>CAC p.R215H GAL3ST3_uc001ogw.2_Missense_Mutation_p.R215H NM_033036 NP_149025 Q96A11 G3ST3_HUMAN galactose-3-O-sulfotransferase 3 215 Lumenal (Potential). monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity ovary(1) 1 GCGCGGGCTGCGCTCATTGTC 0.667 PACS1 55690 broad.mit.edu 37 11 65998373 65998373 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:65998373G>A uc001oha.1 + 13 1722 c.1588G>A c.(1588-1590)GAC>AAC p.D530N PACS1_uc010rou.1_Missense_Mutation_p.D66N NM_018026 NP_060496 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 530 interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding ovary(6) 6 CAACAGTTCCGACAGCGAGCG 0.617 RIN1 9610 broad.mit.edu 37 11 66099763 66099763 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:66099763C>T uc001ohn.1 - 10 2463 c.2336G>A c.(2335-2337)CGG>CAG p.R779Q RIN1_uc010roy.1_Missense_Mutation_p.R410Q|RIN1_uc009yrd.1_Missense_Mutation_p.R472Q|RIN1_uc010roz.1_Missense_Mutation_p.R674Q|RIN1_uc010rpa.1_Missense_Mutation_p.R613Q NM_004292 NP_004283 Q13671 RIN1_HUMAN ras inhibitor RIN1 779 endocytosis|signal transduction cytoplasm|cytoskeleton|plasma membrane GTPase activator activity|protein binding lung(2)|breast(1) 3 CTCTGCTGCCCGGCTTCCCTC 0.622 DPP3 10072 broad.mit.edu 37 11 66249741 66249741 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:66249741C>T uc001oig.1 + 2 132 c.70C>T c.(70-72)CGC>TGC p.R24C DPP3_uc001oif.1_Missense_Mutation_p.R24C|DPP3_uc010rpe.1_Missense_Mutation_p.R43C NM_005700 NP_005691 Q9NY33 DPP3_HUMAN dipeptidyl peptidase III 24 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity ovary(1)|skin(1) 2 TGAGGCCTTCCGCCTGCTGTC 0.642 RBM14 10432 broad.mit.edu 37 11 66393068 66393068 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:66393068C>T uc001oit.2 + 2 1860 c.1721C>T c.(1720-1722)CCG>CTG p.P574L RBM14_uc009yrh.2_Intron|RBM14_uc009yri.2_Intron|RBM4_uc009yrj.2_Intron|RBM4_uc009yrk.2_Intron NM_006328 NP_006319 Q96PK6 RBM14_HUMAN RNA binding motif protein 14 574 DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus mediator complex|ribonucleoprotein complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity ovary(2)|central_nervous_system(1) 3 AGCACCCCGCCGCCCTATGAG 0.662 ADRBK1 156 broad.mit.edu 37 11 67051736 67051736 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:67051736C>T uc009yrn.1 + 18 1812 c.1546C>T c.(1546-1548)CGG>TGG p.R516W ADRBK1_uc009yrm.1_Intron NM_001619 NP_001610 P25098 ARBK1_HUMAN beta-adrenergic receptor kinase 1 516 AGC-kinase C-terminal. activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway cytosol|soluble fraction alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity large_intestine(1) 1 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) Adenosine triphosphate(DB00171) CATCTCGGAGCGGTGGCAGCA 0.592 LRP5 4041 broad.mit.edu 37 11 68205952 68205952 + Missense_Mutation SNP A A C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:68205952A>C uc001ont.2 + 20 4225 c.4150A>C c.(4150-4152)AGC>CGC p.S1384R LRP5_uc009ysg.2_Missense_Mutation_p.S794R NM_002335 NP_002326 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 1384 Extracellular (Potential). adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1) 7 CCCGGCCCACAGCAGTGCCAT 0.592 MYEOV 26579 broad.mit.edu 37 11 69063312 69063312 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:69063312G>A uc001oov.2 + 3 845 c.395G>A c.(394-396)CGG>CAG p.R132Q MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Missense_Mutation_p.R132Q|MYEOV_uc001oow.2_Missense_Mutation_p.R74Q NM_138768 NP_620123 Q96EZ4 MYEOV_HUMAN myeloma overexpressed 132 0 all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128) LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713) Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153) GACGTGTCCCGGGCCAGGAGG 0.617 LRTOMT 220074 broad.mit.edu 37 11 71806464 71806464 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:71806464C>T uc001orr.2 + 6 855 c.477C>T c.(475-477)TTC>TTT p.F159F LRTOMT_uc009ysz.2_RNA|LRTOMT_uc010rqt.1_3'UTR|LRTOMT_uc010rqu.1_Silent_p.F141F|LRTOMT_uc009yta.2_RNA|LRTOMT_uc010rqv.1_Intron|LRTOMT_uc010rqw.1_Intron|LRTOMT_uc001ors.3_Intron|LRTOMT_uc010rqs.1_Intron NM_145309 NP_660352 Q96E66 LRC51_HUMAN leucine rich transmembrane and 159 LRRCT. cytoplasm 0 TCACCACGTTCGACTTCAGTG 0.567 FOLR2 2350 broad.mit.edu 37 11 71931995 71931995 + Missense_Mutation SNP T T G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:71931995T>G uc009ytd.2 + 3 401 c.232T>G c.(232-234)TTT>GTT p.F78V FOLR2_uc009yte.2_Missense_Mutation_p.F78V|FOLR2_uc001ose.3_Missense_Mutation_p.F78V|FOLR2_uc009ytf.2_Missense_Mutation_p.F78V NM_001113534 NP_001107006 P14207 FOLR2_HUMAN folate receptor 2 precursor 78 folic acid transport anchored to membrane|extracellular region|membrane fraction|plasma membrane folic acid binding|receptor activity breast(2)|ovary(1) 3 Folic Acid(DB00158) CCTGTACAACTTTAACTGGGA 0.602 C2CD3 26005 broad.mit.edu 37 11 73785348 73785348 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:73785348G>A uc001ouu.2 - 24 5128 c.4901C>T c.(4900-4902)ACG>ATG p.T1634M C2CD3_uc001out.2_RNA NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1634 C2 2. centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) GACTGCAAACGTTCCATCCAA 0.562 GDPD5 81544 broad.mit.edu 37 11 75146602 75146602 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:75146602G>A uc001owo.3 - 18 2305 c.1768C>T c.(1768-1770)CGA>TGA p.R590* GDPD5_uc001owp.3_Nonsense_Mutation_p.R590*|GDPD5_uc001own.3_Nonsense_Mutation_p.R345*|GDPD5_uc009yuc.2_Nonsense_Mutation_p.R452*|GDPD5_uc009yud.2_Nonsense_Mutation_p.R471* NM_030792 NP_110419 Q8WTR4 GDPD5_HUMAN glycerophosphodiester phosphodiesterase domain 590 Cytoplasmic (Potential). glycerol metabolic process|lipid metabolic process|nervous system development endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm glycerophosphodiester phosphodiesterase activity ovary(1) 1 CCACCCCCTCGGGGGCCCACA 0.577 CCDC81 60494 broad.mit.edu 37 11 86133684 86133684 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:86133684G>A uc001pbx.1 + 15 2314 c.1886G>A c.(1885-1887)CGC>CAC p.R629H CCDC81_uc001pbw.1_Missense_Mutation_p.R539H|CCDC81_uc010rtq.1_Missense_Mutation_p.R412H|CCDC81_uc001pby.1_Missense_Mutation_p.R364H NM_001156474 NP_001149946 Q6ZN84 CCD81_HUMAN coiled-coil domain containing 81 isoform 1 629 skin(1) 1 Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535) TGCCAGAGGCGCACCTCCAAC 0.557 ME3 10873 broad.mit.edu 37 11 86270753 86270753 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:86270753C>T uc001pbz.2 - 2 550 c.296G>A c.(295-297)CGG>CAG p.R99Q ME3_uc001pca.2_Missense_Mutation_p.R99Q|ME3_uc009yvk.2_Missense_Mutation_p.R99Q|ME3_uc010rtr.1_RNA NM_001014811 NP_001014811 Q16798 MAON_HUMAN mitochondrial malic enzyme 3 precursor 99 aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process mitochondrial matrix malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding ovary(1) 1 Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252) NADH(DB00157) ACTCTGCTGCCGCTCGTAATA 0.537 GRM5 2915 broad.mit.edu 37 11 88780385 88780385 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:88780385G>A uc001pcq.2 - 1 856 c.656C>T c.(655-657)ACA>ATA p.T219I GRM5_uc009yvm.2_Missense_Mutation_p.T219I|GRM5_uc009yvn.1_Missense_Mutation_p.T219I NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 219 Extracellular (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) CTTACCTTCTGTGTGCACGGC 0.403 FAT3 120114 broad.mit.edu 37 11 92088438 92088438 + Missense_Mutation SNP G G C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:92088438G>C uc001pdj.3 + 1 3177 c.3160G>C c.(3160-3162)GAA>CAA p.E1054Q NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1054 Cadherin 10.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ATCTGTAAAGGAAAACTCACG 0.493 TCGA Ovarian(4;0.039) CWC15 51503 broad.mit.edu 37 11 94704653 94704653 + Splice_Site SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:94704653T>C uc001pfd.3 - 3 255 c.132_splice c.e3-1 p.R44_splice CWC15_uc009ywl.1_Intron|KDM4D_uc001pfe.2_5'Flank NM_016403 NP_057487 Q9P013 CWC15_HUMAN CWC15 homolog nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome protein binding|RNA binding 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GTAGTCTGTCTAAAGTAGAAA 0.383 CCDC82 79780 broad.mit.edu 37 11 96086838 96086838 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:96086838T>C uc009ywp.2 - 7 1850 c.1607A>G c.(1606-1608)TAC>TGC p.Y536C CCDC82_uc009ywq.2_Missense_Mutation_p.Y536C|CCDC82_uc001pfx.3_Missense_Mutation_p.Y536C|CCDC82_uc009ywr.2_Missense_Mutation_p.Y536C NM_024725 NP_079001 Q8N4S0 CCD82_HUMAN coiled-coil domain containing 82 536 protein binding ovary(1) 1 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) BRCA - Breast invasive adenocarcinoma(274;0.154) TTCTTGAAAGTAATCCGCAAA 0.313 KIAA1377 57562 broad.mit.edu 37 11 101834523 101834523 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:101834523G>A uc001pgm.2 + 6 3027 c.2757G>A c.(2755-2757)CCG>CCA p.P919P KIAA1377_uc001pgn.2_Silent_p.P875P|KIAA1377_uc010run.1_Silent_p.P720P|KIAA1377_uc009yxa.1_Silent_p.P720P NM_020802 NP_065853 Q9P2H0 K1377_HUMAN hypothetical protein LOC57562 919 protein binding breast(2)|ovary(1)|central_nervous_system(1) 4 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) AAAGTTATCCGTCTGTGACTC 0.403 DYNC2H1 79659 broad.mit.edu 37 11 103058206 103058206 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:103058206G>A uc001pho.2 + 43 7175 c.7031G>A c.(7030-7032)CGT>CAT p.R2344H DYNC2H1_uc001phn.1_Missense_Mutation_p.R2344H|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 2344 AAA 3 (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) AATACTGGTCGTGTATACAGA 0.408 CARD16 114769 broad.mit.edu 37 11 104916053 104916053 + Splice_Site SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:104916053G>T uc001pip.1 - 1 1 c.-26_splice c.e1-1 CASP1_uc010rve.1_Intron|CASP1_uc010rvf.1_Intron|CASP1_uc010rvg.1_Intron|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron|CARD16_uc001pio.1_Splice_Site NM_001017534 NP_001017534 Q5EG05 CAR16_HUMAN caspase-1 dominant-negative inhibitor pseudo-ICE regulation of apoptosis intracellular cysteine-type endopeptidase inhibitor activity skin(1) 1 TTCTTGTGTGGGCTGAAACTG 0.458 ATM 472 broad.mit.edu 37 11 108098419 108098419 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:108098419G>A uc001pkb.1 + 2 453 c.68G>A c.(67-69)CGA>CAA p.R23Q ATM_uc009yxr.1_Missense_Mutation_p.R23Q|ATM_uc001pkc.1_Missense_Mutation_p.R23Q NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 23 R -> Q (in a colorectal adenocarcinoma sample; somatic mutation). cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.R23Q(1) haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|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;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GCTACAGAACGAAAGGTAGTA 0.323 D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) EXPH5 23086 broad.mit.edu 37 11 108385068 108385068 + Missense_Mutation SNP A A C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:108385068A>C uc001pkk.2 - 6 1277 c.1166T>G c.(1165-1167)CTG>CGG p.L389R EXPH5_uc010rvy.1_Missense_Mutation_p.L201R|EXPH5_uc010rvz.1_Missense_Mutation_p.L233R|EXPH5_uc010rwa.1_Missense_Mutation_p.L313R NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 389 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TGGTGCCCTCAGGAACTCTTC 0.458 RDX 5962 broad.mit.edu 37 11 110108291 110108291 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:110108291G>A uc001pku.2 - 11 1487 c.1177C>T c.(1177-1179)CGT>TGT p.R393C RDX_uc009yxx.1_RNA|RDX_uc009yxy.2_Missense_Mutation_p.R393C|RDX_uc009yxz.2_Missense_Mutation_p.R46C|RDX_uc009yya.2_Intron|RDX_uc001pks.2_5'Flank|RDX_uc001pkt.2_Missense_Mutation_p.R47C|RDX_uc010rwe.1_Missense_Mutation_p.R257C NM_002906 NP_002897 P35241 RADI_HUMAN radixin 393 Glu-rich. actin filament capping cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane actin binding 0 all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248) GCAGCTCGACGCTCCTTTTCA 0.433 HTR3B 9177 broad.mit.edu 37 11 113803030 113803030 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:113803030C>T uc001pok.2 + 5 455 c.388C>T c.(388-390)CCT>TCT p.P130S HTR3B_uc001pol.2_Missense_Mutation_p.P119S NM_006028 NP_006019 O95264 5HT3B_HUMAN 5-hydroxytryptamine (serotonin) receptor 3B 130 Extracellular (Potential). synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity 0 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) TGAAAGATACCCTGACCTTCC 0.423 CADM1 23705 broad.mit.edu 37 11 115088648 115088648 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:115088648G>A uc001ppi.3 - 6 914 c.785C>T c.(784-786)GCG>GTG p.A262V CADM1_uc001ppf.3_Missense_Mutation_p.A262V|CADM1_uc001ppk.3_Missense_Mutation_p.A262V|CADM1_uc001ppj.3_Missense_Mutation_p.A262V|CADM1_uc001ppl.2_Missense_Mutation_p.A262V|CADM1_uc001pph.3_Missense_Mutation_p.A14V NM_014333 NP_055148 Q9BY67 CADM1_HUMAN immunoglobulin superfamily, member 4D isoform 1 262 Ig-like C2-type 2.|Extracellular (Potential). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding ovary(2) 2 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) TAACTCAAGCGCGTCCCCTTC 0.458 DSCAML1 57453 broad.mit.edu 37 11 117335741 117335741 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:117335741T>C uc001prh.1 - 17 3364 c.3362A>G c.(3361-3363)CAG>CGG p.Q1121R NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1061 Extracellular (Potential).|Fibronectin type-III 2. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CACCCCATACTGGGCGAACTT 0.622 CXCR5 643 broad.mit.edu 37 11 118764511 118764511 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:118764511G>A uc001pue.3 + 2 368 c.258G>A c.(256-258)ACG>ACA p.T86T CXCR5_uc001puf.2_Silent_p.T41T NM_001716 NP_001707 P32302 CXCR5_HUMAN Burkitt lymphoma receptor 1 isoform 1 86 Cytoplasmic (Potential). B cell activation|cellular component movement integral to plasma membrane C-X-C chemokine receptor activity breast(1) 1 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.62e-05) GCAGTTCCACGGAGACCTTCC 0.657 HYOU1 10525 broad.mit.edu 37 11 118920545 118920545 + Missense_Mutation SNP T T G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:118920545T>G uc001puu.2 - 15 1863 c.1670A>C c.(1669-1671)GAG>GCG p.E557A HYOU1_uc001put.2_Missense_Mutation_p.E522A|HYOU1_uc010ryu.1_Missense_Mutation_p.E577A|HYOU1_uc010ryv.1_Missense_Mutation_p.E446A|HYOU1_uc001pux.3_Missense_Mutation_p.E557A|HYOU1_uc010ryw.1_RNA|HYOU1_uc001puw.1_Missense_Mutation_p.E557A NM_006389 NP_006380 Q9Y4L1 HYOU1_HUMAN hypoxia up-regulated 1 precursor 557 endoplasmic reticulum lumen ATP binding|protein binding 0 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.78e-05) AAATACAGACTCCACCTGAAA 0.433 TRIM29 23650 broad.mit.edu 37 11 119993703 119993703 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:119993703G>A uc001pwz.2 - 5 1518 c.1394C>T c.(1393-1395)CCG>CTG p.P465L TRIM29_uc001pwx.2_5'Flank|TRIM29_uc001pwy.2_5'UTR|TRIM29_uc010rzi.1_Missense_Mutation_p.P204L|TRIM29_uc010rzj.1_Missense_Mutation_p.P198L|TRIM29_uc001pxa.2_RNA NM_012101 NP_036233 Q14134 TRI29_HUMAN tripartite motif protein TRIM29 465 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|breast(1)|kidney(1)|skin(1) 4 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) CATGGTGTCCGGTGCACTCCA 0.592 TRIM29 23650 broad.mit.edu 37 11 120008291 120008291 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:120008291C>T uc001pwz.2 - 1 573 c.449G>A c.(448-450)CGG>CAG p.R150Q TRIM29_uc001pxa.2_RNA NM_012101 NP_036233 Q14134 TRI29_HUMAN tripartite motif protein TRIM29 150 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|breast(1)|kidney(1)|skin(1) 4 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) GTAGCTGTTCCGCCGGGTCTC 0.642 ZNF202 7753 broad.mit.edu 37 11 123596771 123596771 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:123596771T>C uc001pzd.1 - 9 2281 c.1881A>G c.(1879-1881)GGA>GGG p.G627G ZNF202_uc001pzc.1_Silent_p.G403G|ZNF202_uc001pze.1_Silent_p.G627G|ZNF202_uc001pzf.1_Silent_p.G627G NM_003455 NP_003446 O95125 ZN202_HUMAN zinc finger protein 202 627 C2H2-type 8. lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) TGAAGCTTTTTCCACAGGTAG 0.517 OR10G4 390264 broad.mit.edu 37 11 123887208 123887208 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:123887208G>T uc010sac.1 + 1 927 c.927G>T c.(925-927)CAG>CAT p.Q309H NM_001004462 NP_001004462 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, 309 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) CACATCCTCAGAGGAAATAAA 0.358 OR10G7 390265 broad.mit.edu 37 11 123909240 123909240 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:123909240C>A uc001pzq.1 - 1 469 c.469G>T c.(469-471)GTC>TTC p.V157F NM_001004463 NP_001004463 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, 157 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) ATGGTCTGGACAGCAGAGTGC 0.577 VSIG2 23584 broad.mit.edu 37 11 124619649 124619649 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:124619649G>A uc001qas.2 - 4 617 c.541C>T c.(541-543)CGT>TGT p.R181C VSIG2_uc001qat.2_Missense_Mutation_p.R181C NM_014312 NP_055127 Q96IQ7 VSIG2_HUMAN V-set and immunoglobulin domain containing 2 181 Extracellular (Potential).|Ig-like C2-type. integral to plasma membrane|membrane fraction ovary(3)|central_nervous_system(1) 4 all_hematologic(175;0.215) Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215) GTTCCAAGACGCACCCAGTTG 0.552 ARHGAP32 9743 broad.mit.edu 37 11 128840874 128840874 + Missense_Mutation SNP G G A rs112097648 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:128840874G>A uc009zcp.2 - 22 4192 c.4192C>T c.(4192-4194)CGC>TGC p.R1398C ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.R357C|ARHGAP32_uc001qez.2_Missense_Mutation_p.R1049C NM_001142685 NP_001136157 A7KAX9 RHG32_HUMAN Rho GTPase-activating protein isoform 1 1398 Interaction with GAB2. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding lung(3)|ovary(2) 5 GACTCGGCGCGCAGGTGCAGC 0.637 OPCML 4978 broad.mit.edu 37 11 132307147 132307147 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:132307147G>A uc001qgs.2 - 4 683 c.633C>T c.(631-633)CCC>CCT p.P211P OPCML_uc001qgu.2_Silent_p.P204P|OPCML_uc010sck.1_Silent_p.P211P|OPCML_uc001qgt.2_Silent_p.P210P|OPCML_uc010scl.1_Silent_p.P170P NM_002545 NP_002536 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion 211 Ig-like C2-type 2. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity ovary(2)|skin(1) 3 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) TCCGCACATCGGGCGCAGCGA 0.537 IQSEC3 440073 broad.mit.edu 37 12 280307 280307 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:280307C>T uc001qhw.1 + 10 2191 c.2185C>T c.(2185-2187)CCG>TCG p.P729S IQSEC3_uc001qhu.1_Missense_Mutation_p.P729S NM_015232 NP_056047 Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 1032 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|large_intestine(1)|skin(1) 4 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) CAGGGAGAGGCCGGCGGAGAG 0.612 ERC1 23085 broad.mit.edu 37 12 1481092 1481092 + Silent SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:1481092G>T uc001qjb.2 + 16 3115 c.2874G>T c.(2872-2874)GTG>GTT p.V958V ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Silent_p.V930V|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_Silent_p.V958V|ERC1_uc010sdv.1_Silent_p.V666V|ERC1_uc001qje.2_RNA NM_178040 NP_829884 Q8IUD2 RB6I2_HUMAN RAB6-interacting protein 2 isoform epsilon 958 Potential. I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding ovary(2)|lung(2)|breast(1) 5 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) AAGAGGAAGTGGCTGCCCTGA 0.507 WNT5B 81029 broad.mit.edu 37 12 1755092 1755092 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:1755092G>A uc009zdq.2 + 5 996 c.754G>A c.(754-756)GCG>ACG p.A252T WNT5B_uc001qjj.2_Missense_Mutation_p.A252T|WNT5B_uc001qjk.2_Missense_Mutation_p.A252T|WNT5B_uc001qjl.2_Missense_Mutation_p.A252T NM_032642 NP_116031 Q9H1J7 WNT5B_HUMAN wingless-type MMTV integration site family, 252 angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding skin(1) 1 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00109) GTACGACAGCGCGGCCGCCAT 0.692 TEAD4 7004 broad.mit.edu 37 12 3128323 3128323 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:3128323G>A uc010sej.1 + 8 844 c.567G>A c.(565-567)CCG>CCA p.P189P TEAD4_uc010sek.1_Silent_p.P146P|TEAD4_uc001qln.2_Silent_p.P61P NM_003213 NP_003204 Q15561 TEAD4_HUMAN TEA domain family member 4 isoform 1 190 hippo signaling cascade|muscle organ development|skeletal system development DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 Ovarian(42;0.211) OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831) TCCAGCCTCCGCTGCCTCTGC 0.687 PEX5 5830 broad.mit.edu 37 12 7362774 7362774 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:7362774G>A uc009zfu.1 + 17 2455 c.1875G>A c.(1873-1875)GCG>GCA p.A625A PEX5_uc001qsw.2_Silent_p.A625A|PEX5_uc010sgc.1_Silent_p.A640A|PEX5_uc001qsu.2_Silent_p.A588A|PEX5_uc010sgd.1_Silent_p.A646A|PEX5_uc001qsv.2_Silent_p.A617A NM_001131026 NP_001124498 P50542 PEX5_HUMAN peroxisomal biogenesis factor 5 isoform d 625 protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport cytosol|peroxisomal matrix|peroxisomal membrane peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding ovary(1) 1 CAGCCGACGCGCGGGATCTGT 0.617 ACSM4 341392 broad.mit.edu 37 12 7475033 7475033 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:7475033C>T uc001qsx.1 + 7 1021 c.1021C>T c.(1021-1023)CGG>TGG p.R341W NM_001080454 NP_001073923 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 341 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding 0 CAAGAGTCTGCGGCACTGCTT 0.512 CD163 9332 broad.mit.edu 37 12 7649629 7649629 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:7649629G>A uc001qsz.3 - 5 1007 c.879C>T c.(877-879)GAC>GAT p.D293D CD163_uc001qta.3_Silent_p.D293D|CD163_uc009zfw.2_Silent_p.D293D NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 293 SRCR 3.|Extracellular (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 TGTCCCAGCCGTCATCACATA 0.507 KLRG1 10219 broad.mit.edu 37 12 9144878 9144878 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:9144878G>A uc001qvh.2 + 2 170 c.159G>A c.(157-159)GTG>GTA p.V53V KLRG1_uc001qvg.2_Silent_p.V53V NM_005810 NP_005801 Q96E93 KLRG1_HUMAN killer cell lectin-like receptor subfamily G, 53 Helical; Signal-anchor for type II membrane protein; (Potential). cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response integral to membrane receptor activity|sugar binding central_nervous_system(1) 1 TTCTGAGTGTGCTGCTATACC 0.413 A2M 2 broad.mit.edu 37 12 9231878 9231878 + Silent SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:9231878G>T uc001qvk.1 - 25 3194 c.3081C>A c.(3079-3081)ACC>ACA p.T1027T A2M_uc001qvj.1_Silent_p.T69T|A2M_uc009zgk.1_Silent_p.T877T NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 1027 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding central_nervous_system(4)|skin(1) 5 Bacitracin(DB00626)|Becaplermin(DB00102) GCTCCCCAAAGGTGCTGTAGG 0.348 A2M 2 broad.mit.edu 37 12 9246145 9246145 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:9246145C>T uc001qvk.1 - 18 2269 c.2156G>A c.(2155-2157)CGC>CAC p.R719H A2M_uc009zgk.1_Missense_Mutation_p.R569H NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 719 Bait region.|Inhibitory. blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding central_nervous_system(4)|skin(1) 5 Bacitracin(DB00626)|Becaplermin(DB00102) ATGCACCAGGCGTGCATGGCC 0.443 PZP 5858 broad.mit.edu 37 12 9318694 9318694 + Nonsense_Mutation SNP G G A rs150067154 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:9318694G>A uc001qvl.2 - 18 2241 c.2212C>T c.(2212-2214)CGA>TGA p.R738* PZP_uc009zgl.2_Nonsense_Mutation_p.R607*|PZP_uc010sgo.1_RNA|PZP_uc009zgm.1_Nonsense_Mutation_p.R70* NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 AAATAGCTTCGCACCGTTTCA 0.448 PZP 5858 broad.mit.edu 37 12 9353635 9353635 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:9353635C>A uc001qvl.2 - 6 552 c.523G>T c.(523-525)GCA>TCA p.A175S PZP_uc009zgl.2_Missense_Mutation_p.A44S NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 TGCCATTGTGCAATTCGATTT 0.458 MAGOHB 55110 broad.mit.edu 37 12 10762434 10762434 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:10762434C>T uc001qyq.1 - 3 312 c.260G>A c.(259-261)CGA>CAA p.R87Q MAGOHB_uc001qyr.1_RNA NM_018048 NP_060518 Q96A72 MGN2_HUMAN mago-nashi homolog B 87 mRNA processing|mRNA transport|RNA splicing nucleus RNA binding breast(1) 1 ACAAACCTGTCGGCCAACCCT 0.338 DUSP16 80824 broad.mit.edu 37 12 12630345 12630345 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:12630345C>T uc001rao.1 - 7 2052 c.1420G>A c.(1420-1422)GCC>ACC p.A474T DUSP16_uc001ram.1_5'Flank|DUSP16_uc001ran.1_Missense_Mutation_p.A326T NM_030640 NP_085143 Q9BY84 DUS16_HUMAN dual specificity phosphatase 16 474 inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive cytoplasmic membrane-bounded vesicle|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 Prostate(47;0.0687) BRCA - Breast invasive adenocarcinoma(232;0.0203) GAAGGCCTGGCGGTCTGCAGC 0.567 PDE3A 5139 broad.mit.edu 37 12 20806894 20806894 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:20806894C>A uc001reh.1 + 15 2961 c.2939C>A c.(2938-2940)GCC>GAC p.A980D NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 980 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) GATGAAGAGGCCAGCCTTGGA 0.453 ABCC9 10060 broad.mit.edu 37 12 22005053 22005053 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:22005053C>T uc001rfi.1 - 22 2767 c.2747G>A c.(2746-2748)CGG>CAG p.R916Q ABCC9_uc001rfh.2_Missense_Mutation_p.R916Q|ABCC9_uc001rfj.1_Missense_Mutation_p.R880Q NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 916 Cytoplasmic (Potential). defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TTGATCTTGCCGATTCATAAG 0.353 SOX5 6660 broad.mit.edu 37 12 23999074 23999074 + Silent SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:23999074G>T uc001rfw.2 - 3 426 c.324C>A c.(322-324)ACC>ACA p.T108T SOX5_uc001rfx.2_Silent_p.T95T|SOX5_uc001rfy.2_Silent_p.T95T|SOX5_uc010siv.1_Silent_p.T95T|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Silent_p.T60T|SOX5_uc001rga.2_Silent_p.T73T NM_006940 NP_008871 P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 isoform a 108 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(5)|lung(1) 6 TCTGAGGTGAGGTAGATGAGT 0.468 RASSF8 11228 broad.mit.edu 37 12 26217838 26217838 + Missense_Mutation SNP C C T rs146204306 byFrequency TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:26217838C>T uc001rgx.2 + 3 732 c.511C>T c.(511-513)CGT>TGT p.R171C RASSF8_uc001rgy.2_Missense_Mutation_p.R171C|RASSF8_uc001rgz.2_Missense_Mutation_p.R171C|RASSF8_uc009zjd.1_Missense_Mutation_p.R171C|RASSF8_uc009zje.1_Missense_Mutation_p.R171C NM_007211 NP_009142 Q8NHQ8 RASF8_HUMAN Ras association (RalGDS/AF-6) domain family 171 signal transduction 0 Colorectal(261;0.0847) GAAGCTAATCCGTCTGCAGAC 0.358 ITPR2 3709 broad.mit.edu 37 12 26752167 26752167 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:26752167G>A uc001rhg.2 - 30 4330 c.3913C>T c.(3913-3915)CGC>TGC p.R1305C NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 1305 Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) TCCACGTGGCGGCCATGTGTC 0.423 KLHDC5 57542 broad.mit.edu 37 12 27950929 27950929 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:27950929G>A uc001rij.2 + 3 1425 c.1348G>A c.(1348-1350)GGC>AGC p.G450S KLHDC5_uc009zjj.2_RNA NM_020782 NP_065833 Q9P2K6 KLDC5_HUMAN kelch domain containing 5 450 Kelch 6. ovary(1)|central_nervous_system(1) 2 Lung SC(9;0.0873) CCATAACGACGGCATCTACAT 0.517 FAR2 55711 broad.mit.edu 37 12 29423430 29423430 + Silent SNP G G A rs149661674 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:29423430G>A uc001ris.3 + 2 195 c.48G>A c.(46-48)ACG>ACA p.T16T FAR2_uc001rit.2_Silent_p.T16T|FAR2_uc009zjm.2_Intron NM_018099 NP_060569 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 16 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor 0 TTCTCATCACGGGGGCCACAG 0.507 DDX11 1663 broad.mit.edu 37 12 31249595 31249595 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:31249595G>A uc001rjt.1 + 16 1797 c.1546G>A c.(1546-1548)GGA>AGA p.G516R DDX11_uc001rjr.1_Missense_Mutation_p.G516R|DDX11_uc001rjs.1_Missense_Mutation_p.G516R|DDX11_uc001rju.1_Missense_Mutation_p.G194R|DDX11_uc001rjv.1_Missense_Mutation_p.G516R|DDX11_uc001rjw.1_Missense_Mutation_p.G490R|DDX11_uc009zjn.1_RNA NM_152438 NP_689651 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 516 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(3) 3 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) TGAACGGTACGGAGCAGTGTT 0.592 Multiple Myeloma(12;0.14) CPNE8 144402 broad.mit.edu 37 12 39223184 39223184 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:39223184A>G uc001rls.1 - 6 488 c.404T>C c.(403-405)ATA>ACA p.I135T NM_153634 NP_705898 Q86YQ8 CPNE8_HUMAN copine VIII 135 pancreas(1) 1 Esophageal squamous(101;0.187) Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157) TACTTACACTATTGGTTTTTC 0.368 PRICKLE1 144165 broad.mit.edu 37 12 42859016 42859016 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:42859016C>T uc010skv.1 - 7 1107 c.820G>A c.(820-822)GCC>ACC p.A274T PRICKLE1_uc001rnl.2_Missense_Mutation_p.A274T|PRICKLE1_uc010skw.1_Missense_Mutation_p.A274T|PRICKLE1_uc001rnm.2_Missense_Mutation_p.A274T NM_001144881 NP_001138353 Q96MT3 PRIC1_HUMAN prickle homolog 1 274 LIM zinc-binding 3. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding ovary(3)|skin(1) 4 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) GCTTCCGTGGCGTGCCAGTGC 0.473 ARID2 196528 broad.mit.edu 37 12 46246296 46246296 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:46246296C>T uc001ros.1 + 15 4390 c.4390C>T c.(4390-4392)CGC>TGC p.R1464C ARID2_uc001ror.2_Missense_Mutation_p.R1464C|ARID2_uc009zkg.1_Missense_Mutation_p.R920C|ARID2_uc009zkh.1_Missense_Mutation_p.R1091C|ARID2_uc001rou.1_Missense_Mutation_p.R798C NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1464 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) GCCTCAGCAACGCCCAAGTGT 0.438 ZNF641 121274 broad.mit.edu 37 12 48737355 48737355 + Missense_Mutation SNP G G C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:48737355G>C uc001rrn.1 - 6 883 c.718C>G c.(718-720)CCC>GCC p.P240A ZNF641_uc001rro.1_Missense_Mutation_p.P226A|ZNF641_uc010sls.1_Missense_Mutation_p.P217A NM_152320 NP_689533 Q96N77 ZN641_HUMAN zinc finger protein 641 240 Transactivation. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 AGAAAAGGGGGCCCCAGGAGC 0.517 RACGAP1 29127 broad.mit.edu 37 12 50386088 50386088 + Silent SNP G G C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:50386088G>C uc001rvt.2 - 16 1828 c.1518C>G c.(1516-1518)GCC>GCG p.A506A RACGAP1_uc009zlm.1_Silent_p.A506A|RACGAP1_uc001rvs.2_Silent_p.A506A|RACGAP1_uc001rvu.2_Silent_p.A506A NM_013277 NP_037409 Q9H0H5 RGAP1_HUMAN Rac GTPase activating protein 1 506 Rho-GAP. blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding kidney(1) 1 GCACAGCATGGGCCACTATTG 0.448 SLC11A2 4891 broad.mit.edu 37 12 51394196 51394196 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:51394196G>A uc001rxe.3 - 6 533 c.436C>T c.(436-438)CGA>TGA p.R146* SLC11A2_uc001rxd.3_Translation_Start_Site|SLC11A2_uc001rxc.3_Nonsense_Mutation_p.R146*|SLC11A2_uc001rxf.2_RNA|SLC11A2_uc010smx.1_Nonsense_Mutation_p.R142*|SLC11A2_uc001rxh.1_Nonsense_Mutation_p.R146*|SLC11A2_uc001rxj.1_Nonsense_Mutation_p.R146*|SLC11A2_uc001rxi.2_Nonsense_Mutation_p.R146*|SLC11A2_uc001rxk.1_Nonsense_Mutation_p.R175*|SLC11A2_uc010smy.1_Nonsense_Mutation_p.R109* NM_000617 NP_000608 P49281 NRAM2_HUMAN solute carrier family 11 (proton-coupled 146 Cytoplasmic (Potential). activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network cadmium ion transmembrane transporter activity|cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity large_intestine(1) 1 AGGATGACTCGTGGGACCTAA 0.418 KRT85 3891 broad.mit.edu 37 12 52761184 52761184 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:52761184C>T uc001sag.2 - 1 126 c.6G>A c.(4-6)TCG>TCA p.S2S NM_002283 NP_002274 P78386 KRT85_HUMAN keratin 85 2 Head. epidermis development keratin filament protein binding|structural molecule activity ovary(1) 1 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) AGGAGCGGCACGACATCGTGT 0.622 CALCOCO1 57658 broad.mit.edu 37 12 54107930 54107930 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:54107930G>A uc001sef.2 - 12 1722 c.1578C>T c.(1576-1578)GCC>GCT p.A526A CALCOCO1_uc001see.2_Silent_p.A27A|CALCOCO1_uc010som.1_Silent_p.A441A|CALCOCO1_uc010son.1_Silent_p.A403A|CALCOCO1_uc001seh.2_Silent_p.A526A|CALCOCO1_uc009znd.2_Silent_p.A526A|CALCOCO1_uc001seg.2_Silent_p.A351A|CALCOCO1_uc010soo.1_Silent_p.A519A NM_020898 NP_065949 Q9P1Z2 CACO1_HUMAN coiled-coil transcriptional coactivator isoform 526 C-terminal AD (CTNNB1 binding site) (By similarity). steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding ovary(1) 1 GCCCCACAGCGGCCTCCTCAT 0.562 HOXC13 3229 broad.mit.edu 37 12 54338837 54338837 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:54338837C>T uc001sei.2 + 2 905 c.790C>T c.(790-792)CGC>TGC p.R264C HOXC13_uc010sop.1_RNA NM_017410 NP_059106 P31276 HXC13_HUMAN homeobox C13 264 Homeobox. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 GCGCAAGAAACGCGTGCCCTA 0.617 T NUP98 AML HOXC12 3228 broad.mit.edu 37 12 54350327 54350327 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:54350327G>A uc010soq.1 + 2 826 c.826G>A c.(826-828)GAG>AAG p.E276K NM_173860 NP_776272 P31275 HXC12_HUMAN homeobox C12 276 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1) 1 TCTGTTGAGGGAGCAAGCTCT 0.547 PA2G4 5036 broad.mit.edu 37 12 56504448 56504448 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:56504448C>T uc001sjm.2 + 9 1233 c.814C>T c.(814-816)CGT>TGT p.R272C PA2G4_uc009zol.2_Missense_Mutation_p.R272C|PA2G4_uc009zom.2_Missense_Mutation_p.R272C NM_006191 NP_006182 Q9UQ80 PA2G4_HUMAN ErbB3-binding protein 1 272 cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing cytoplasm|nucleolus|ribonucleoprotein complex DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding 0 OV - Ovarian serous cystadenocarcinoma(18;0.0739) GGTGGAAAGGCGTTTTGATGC 0.443 SMARCC2 6601 broad.mit.edu 37 12 56563355 56563355 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:56563355G>A uc001skb.2 - 24 2686 c.2580C>T c.(2578-2580)ACC>ACT p.T860T SMARCC2_uc001skd.2_Silent_p.T891T|SMARCC2_uc001ska.2_Silent_p.T891T|SMARCC2_uc001skc.2_Silent_p.T890T|SMARCC2_uc010sqf.1_Silent_p.T780T NM_003075 NP_003066 Q8TAQ2 SMRC2_HUMAN SWI/SNF-related matrix-associated 860 chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity lung(2)|central_nervous_system(2)|ovary(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(18;0.123) cggcagcagcggtggAGAGGT 0.219 OBFC2B 79035 broad.mit.edu 37 12 56622977 56622977 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:56622977C>T uc001ski.2 + 7 740 c.616C>T c.(616-618)CGG>TGG p.R206W OBFC2B_uc001skk.2_Missense_Mutation_p.R231W|OBFC2B_uc001skj.2_Missense_Mutation_p.R222W NM_024068 NP_076973 Q9BQ15 SOSB1_HUMAN oligonucleotide/oligosaccharide-binding fold 206 double-strand break repair via homologous recombination|G2/M transition checkpoint|response to ionizing radiation SOSS complex protein binding|single-stranded DNA binding ovary(1) 1 CAAAGAAACCCGGAGGAGCAG 0.577 Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function PAN2 9924 broad.mit.edu 37 12 56718087 56718087 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:56718087G>A uc001skx.2 - 12 2292 c.1919C>T c.(1918-1920)GCT>GTT p.A640V PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Missense_Mutation_p.A640V|PAN2_uc001sky.2_Missense_Mutation_p.A640V NM_001127460 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 polyA specific ribonuclease subunit homolog 640 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity ovary(2)|skin(2)|large_intestine(1)|breast(1) 6 CCTGCCTCCAGCACCTCGATA 0.458 BAZ2A 11176 broad.mit.edu 37 12 56995134 56995134 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:56995134G>A uc001slq.1 - 21 4324 c.4130C>T c.(4129-4131)ACG>ATG p.T1377M BAZ2A_uc001slp.1_Missense_Mutation_p.T1375M|BAZ2A_uc001slo.1_Missense_Mutation_p.T205M|BAZ2A_uc009zov.1_Missense_Mutation_p.T347M|BAZ2A_uc009zow.1_Missense_Mutation_p.T1345M NM_013449 NP_038477 Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 1377 Pro-rich. chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding 0 AGCCAAGGGCGTGGAAGAGAA 0.517 LRP1 4035 broad.mit.edu 37 12 57578171 57578171 + Missense_Mutation SNP C C T rs148823753 byFrequency TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:57578171C>T uc001snd.2 + 38 6588 c.6122C>T c.(6121-6123)ACG>ATG p.T2041M NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 2041 LDL-receptor class B 19.|Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CTAGATGGCACGGAGCGTGTG 0.592 SHMT2 6472 broad.mit.edu 37 12 57625344 57625344 + Splice_Site SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:57625344G>A uc001snf.1 + 3 321 c.311_splice c.e3+1 p.R104_splice SHMT2_uc001sng.1_Splice_Site|SHMT2_uc001snh.1_Intron|SHMT2_uc009zpk.1_Splice_Site_p.R104_splice|SHMT2_uc001sni.1_Splice_Site_p.R83_splice|SHMT2_uc010srg.1_Intron|SHMT2_uc001snj.1_Intron|SHMT2_uc010srh.1_Splice_Site_p.R83_splice|SHMT2_uc001snk.1_Intron|SHMT2_uc010sri.1_Splice_Site_p.R83_splice|SHMT2_uc001snl.2_Splice_Site|SHMT2_uc010srj.1_5'Flank NM_005412 NP_005403 P34897 GLYM_HUMAN serine hydroxymethyltransferase 2 microtubule cytoskeleton|mitochondrial nucleoid glycine hydroxymethyltransferase activity|methyltransferase activity ovary(1)|central_nervous_system(1) 2 Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) CTGGCAAGAGGTGAGGGCTGG 0.597 ARHGAP9 64333 broad.mit.edu 37 12 57867953 57867953 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:57867953C>T uc001sod.2 - 19 2253 c.2060G>A c.(2059-2061)CGG>CAG p.R687Q ARHGAP9_uc001sny.2_Intron|ARHGAP9_uc001snz.2_Missense_Mutation_p.R413Q|ARHGAP9_uc001soa.2_Missense_Mutation_p.R286Q|ARHGAP9_uc001sob.2_Missense_Mutation_p.R597Q|ARHGAP9_uc001soc.2_Missense_Mutation_p.R597Q|ARHGAP9_uc001soe.1_Missense_Mutation_p.R676Q NM_032496 NP_115885 Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 isoform 1 616 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding lung(1) 1 GBM - Glioblastoma multiforme(3;3.37e-34) CAAATCTAACCGACCTTCTGG 0.517 C12orf66 144577 broad.mit.edu 37 12 64609628 64609628 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:64609628G>A uc001srw.3 - 2 410 c.351C>T c.(349-351)CAC>CAT p.H117H C12orf66_uc009zql.2_Silent_p.H64H NM_152440 NP_689653 Q96MD2 CL066_HUMAN hypothetical protein LOC144577 117 ovary(1) 1 GTTCTTCCACGTGAGGAGCAG 0.527 TMBIM4 51643 broad.mit.edu 37 12 66546105 66546105 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:66546105C>T uc001stc.2 - 3 334 c.258G>A c.(256-258)GCG>GCA p.A86A LLPH_uc010ssx.1_RNA|TMBIM4_uc001std.2_Silent_p.A55A|TMBIM4_uc009zqr.2_Silent_p.A133A|TMBIM4_uc001ste.2_RNA|TMBIM4_uc001stf.2_Silent_p.A86A|TMBIM4_uc009zqs.2_Silent_p.A86A NM_016056 NP_057140 Q9HC24 TMBI4_HUMAN transmembrane BAX inhibitor motif containing 4 86 Helical; (Potential). integral to membrane protein binding ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(28;0.0745) TTAAAATCAACGCAAAAATCA 0.348 GRIP1 23426 broad.mit.edu 37 12 66771012 66771012 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:66771012G>A uc001stk.2 - 20 2760 c.2519C>T c.(2518-2520)TCT>TTT p.S840F GRIP1_uc010sta.1_Missense_Mutation_p.S784F|GRIP1_uc001stj.2_Missense_Mutation_p.S622F|GRIP1_uc001stl.1_Missense_Mutation_p.S732F|GRIP1_uc001stm.2_Missense_Mutation_p.S840F NM_021150 NP_066973 Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 892 androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity ovary(2) 2 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) CAGCGCTTGAGACCAGAAGTT 0.473 LGR5 8549 broad.mit.edu 37 12 71974201 71974201 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:71974201A>G uc001swl.2 + 16 1598 c.1550A>G c.(1549-1551)CAA>CGA p.Q517R LGR5_uc001swm.2_Missense_Mutation_p.Q493R|LGR5_uc001swn.1_RNA NM_003667 NP_003658 O75473 LGR5_HUMAN leucine-rich repeat-containing G protein-coupled 517 Extracellular (Potential). integral to plasma membrane protein-hormone receptor activity lung(4)|skin(3)|ovary(1)|pancreas(1) 9 TTTCAGGCTCAAGGTAGGACT 0.368 NAP1L1 4673 broad.mit.edu 37 12 76461164 76461164 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:76461164C>T uc001sxw.2 - 4 605 c.193G>A c.(193-195)GGA>AGA p.G65R NAP1L1_uc001sxv.2_Missense_Mutation_p.G23R|NAP1L1_uc001sxz.2_Missense_Mutation_p.G23R|NAP1L1_uc001sxx.2_Missense_Mutation_p.G65R|NAP1L1_uc001sxy.2_Intron|NAP1L1_uc010sty.1_Missense_Mutation_p.G23R|NAP1L1_uc010stz.1_Intron|NAP1L1_uc010sua.1_Missense_Mutation_p.G65R|NAP1L1_uc001syb.2_Missense_Mutation_p.G65R|NAP1L1_uc001sya.2_Missense_Mutation_p.G23R|NAP1L1_uc001syc.2_Missense_Mutation_p.G65R NM_139207 NP_631946 P55209 NP1L1_HUMAN nucleosome assembly protein 1-like 1 65 DNA replication|nucleosome assembly|positive regulation of cell proliferation chromatin assembly complex|melanosome protein binding ovary(1)|skin(1) 2 Colorectal(145;0.09) TCAATGTATCCTGTTGGTGTT 0.363 E2F7 144455 broad.mit.edu 37 12 77440093 77440093 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:77440093C>T uc001sym.3 - 5 790 c.554G>A c.(553-555)CGC>CAC p.R185H E2F7_uc001syn.2_Missense_Mutation_p.R185H NM_203394 NP_976328 Q96AV8 E2F7_HUMAN E2F transcription factor 7 185 Potential. R->A: Loss of DNA-binding and inhibition of E2F1-dependent activation. cell cycle transcription factor complex DNA binding|identical protein binding upper_aerodigestive_tract(1)|ovary(1)|kidney(1) 3 GTCATAGATGCGTCTCCTTTC 0.488 LIN7A 8825 broad.mit.edu 37 12 81283062 81283062 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:81283062G>T uc001szj.1 - 2 362 c.169C>A c.(169-171)CTT>ATT p.L57I LIN7A_uc001szk.1_RNA NM_004664 NP_004655 O14910 LIN7A_HUMAN lin-7 homolog A 57 L27. exocytosis|protein complex assembly|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction L27 domain binding ovary(1)|skin(1) 2 TCACTCTGAAGCACTTTTTTG 0.353 TMTC2 160335 broad.mit.edu 37 12 83324294 83324294 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:83324294G>A uc001szt.2 + 4 2000 c.1568G>A c.(1567-1569)CGC>CAC p.R523H TMTC2_uc001szr.1_Missense_Mutation_p.R523H|TMTC2_uc001szs.1_Missense_Mutation_p.R523H|TMTC2_uc010suk.1_Missense_Mutation_p.R278H NM_152588 NP_689801 Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat 523 TPR 2. endoplasmic reticulum|integral to membrane binding ovary(2) 2 TTGTACTACCGCAGCAACATG 0.418 SLC6A15 55117 broad.mit.edu 37 12 85266867 85266867 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:85266867G>A uc001szv.2 - 7 1601 c.1108C>T c.(1108-1110)CAA>TAA p.Q370* SLC6A15_uc010sul.1_Nonsense_Mutation_p.Q263*|SLC6A15_uc001szw.1_Nonsense_Mutation_p.Q78* NM_182767 NP_877499 Q9H2J7 S6A15_HUMAN solute carrier family 6, member 15 isoform 1 370 Extracellular (Potential). cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity pancreas(2)|ovary(1) 3 TATTCATACTGTGTAATGCAT 0.264 LRRIQ1 84125 broad.mit.edu 37 12 85547850 85547850 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:85547850G>A uc001tac.2 + 23 4809 c.4698G>A c.(4696-4698)TCG>TCA p.S1566S NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1566 ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) AAATGAAATCGAAGAAACTAA 0.264 KERA 11081 broad.mit.edu 37 12 91449951 91449951 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:91449951A>G uc001tbl.2 - 2 727 c.108T>C c.(106-108)ACT>ACC p.T36T NM_007035 NP_008966 O60938 KERA_HUMAN keratocan precursor 36 LRRNT. response to stimulus|visual perception proteinaceous extracellular matrix skin(1) 1 AGTCATGAATAGTCCAATCAT 0.408 STAB2 55576 broad.mit.edu 37 12 104030991 104030991 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:104030991G>A uc001tjw.2 + 7 872 c.686G>A c.(685-687)CGA>CAA p.R229Q NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 229 Extracellular (Potential).|EGF-like 3. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 CCCAATTACCGAGGCGATGGC 0.408 TXNRD1 7296 broad.mit.edu 37 12 104733053 104733053 + Splice_Site SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:104733053T>C uc010swk.1 + 16 1903 c.1881_splice c.e16+2 p.E627_splice TXNRD1_uc010swl.1_Splice_Site_p.E477_splice|TXNRD1_uc010swm.1_Splice_Site_p.E529_splice|TXNRD1_uc010swn.1_Splice_Site_p.E477_splice|TXNRD1_uc010swo.1_Splice_Site_p.E477_splice|TXNRD1_uc010swp.1_Splice_Site_p.E439_splice|TXNRD1_uc010swq.1_Splice_Site_p.E527_splice|TXNRD1_uc001tku.2_Splice_Site|TXNRD1_uc009zun.2_Splice_Site_p.E543_splice NM_001093771 NP_001087240 Q16881 TRXR1_HUMAN thioredoxin reductase 1 isoform 3 cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport cytosol|nucleolus electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity 0 TGTGCAGAGGTGGGTCATCTA 0.463 USP30 84749 broad.mit.edu 37 12 109509471 109509471 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:109509471C>T uc010sxi.1 + 5 639 c.535C>T c.(535-537)CGC>TGC p.R179C USP30_uc001tnu.3_Missense_Mutation_p.R148C NM_032663 NP_116052 Q70CQ3 UBP30_HUMAN ubiquitin specific peptidase 30 179 Cytoplasmic (Potential). ubiquitin-dependent protein catabolic process integral to membrane|mitochondrial outer membrane cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(1) 1 TGAGCGAGACCGCCAGCCTCG 0.438 C12orf34 84915 broad.mit.edu 37 12 110206924 110206924 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:110206924G>A uc001tpd.1 + 3 1749 c.1190G>A c.(1189-1191)TGC>TAC p.C397Y MGC14436_uc010sxs.1_Intron|MGC14436_uc001tpe.2_Intron|C12orf34_uc001tpf.1_Missense_Mutation_p.C397Y NM_032829 NP_116218 Q5U5X8 CL034_HUMAN hypothetical protein LOC84915 397 ovary(1) 1 AAGAGTGTGTGCAACACATCG 0.672 C12orf51 283450 broad.mit.edu 37 12 112696395 112696395 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:112696395C>T uc009zwc.2 - 13 1755 c.1737G>A c.(1735-1737)GCG>GCA p.A579A C12orf51_uc010syk.1_Silent_p.A402A|C12orf51_uc001tts.2_Silent_p.A402A|C12orf51_uc001ttt.3_Silent_p.A400A NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 TAAGCAGCAACGCCGTCTGAA 0.478 TBX5 6910 broad.mit.edu 37 12 114793517 114793517 + Silent SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:114793517G>T uc001tvo.2 - 9 1872 c.1377C>A c.(1375-1377)ACC>ACA p.T459T TBX5_uc001tvp.2_Silent_p.T459T|TBX5_uc001tvq.2_Silent_p.T409T NM_181486 NP_852259 Q99593 TBX5_HUMAN T-box 5 isoform 1 459 MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG NVPSTRPP (in Ref. 1; CAA70592). cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(6)|pancreas(1)|skin(1) 8 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) GGGCCACGGAGGTCTGGTGCT 0.662 NOS1 4842 broad.mit.edu 37 12 117672425 117672425 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:117672425C>T uc001twm.1 - 21 3866 c.3180G>A c.(3178-3180)CCG>CCA p.P1060P NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 1060 FAD-binding FR-type. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GGTTGACAGGCGGCGCGTCCT 0.627 NOS1 4842 broad.mit.edu 37 12 117728174 117728174 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:117728174G>A uc001twm.1 - 4 1596 c.910C>T c.(910-912)CGC>TGC p.R304C NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 304 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TTGAGGAAGCGTGGACACTTG 0.547 PRKAB1 5564 broad.mit.edu 37 12 120110208 120110208 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:120110208G>A uc009zwu.2 + 3 365 c.262G>A c.(262-264)GGA>AGA p.G88R PRKAB1_uc001txg.2_Missense_Mutation_p.G88R NM_006253 NP_006244 Q9Y478 AAKB1_HUMAN AMP-activated protein kinase beta 1 88 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol 0 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.166) Adenosine monophosphate(DB00131)|Metformin(DB00331) GACGGGGGGCGGAAAGGAAGT 0.507 GCN1L1 10985 broad.mit.edu 37 12 120585995 120585995 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:120585995C>T uc001txo.2 - 37 4715 c.4702G>A c.(4702-4704)GTT>ATT p.V1568I NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1568 HEAT 9. regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TTCCTGATAACGGAGCCGATC 0.602 PXN 5829 broad.mit.edu 37 12 120651713 120651713 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:120651713G>A uc001txt.2 - 11 1572 c.1441C>T c.(1441-1443)CGG>TGG p.R481W PXN_uc001txu.2_Missense_Mutation_p.R293W|PXN_uc001txv.2_Missense_Mutation_p.R362W|PXN_uc001txx.2_Missense_Mutation_p.R314W|PXN_uc001txy.2_Missense_Mutation_p.R447W|PXN_uc001txz.2_RNA NM_001080855 NP_001074324 P49023 PAXI_HUMAN paxillin isoform 1 481 LIM zinc-binding 3. cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly cytoplasm|focal adhesion|lamellipodium|microtubule associated complex beta-catenin binding|vinculin binding|zinc ion binding ovary(1)|breast(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AGGATGGCCCGGGCGCAGCCG 0.617 OASL 8638 broad.mit.edu 37 12 121458651 121458651 + Missense_Mutation SNP A A C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:121458651A>C uc001tzj.1 - 6 1264 c.1258T>G c.(1258-1260)TCC>GCC p.S420A OASL_uc001tzk.1_3'UTR NM_003733 NP_003724 Q15646 OASL_HUMAN 2'-5'-oligoadenylate synthetase-like isoform a 420 Ubiquitin-like 1. interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway cytoplasm|nucleolus ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity skin(1) 1 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TGAGTGTGGGAGAAGATCCCA 0.562 KDM2B 84678 broad.mit.edu 37 12 121878950 121878950 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:121878950C>T uc001uat.2 - 20 3475 c.3371G>A c.(3370-3372)CGA>CAA p.R1124Q KDM2B_uc001uaq.2_Missense_Mutation_p.R564Q|KDM2B_uc010szy.1_Missense_Mutation_p.R564Q|KDM2B_uc001uar.2_Missense_Mutation_p.R715Q|KDM2B_uc001uas.2_Missense_Mutation_p.R1055Q|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_Missense_Mutation_p.R372Q|KDM2B_uc010szx.1_Missense_Mutation_p.R372Q|KDM2B_uc001uap.2_RNA NM_032590 NP_115979 Q8NHM5 KDM2B_HUMAN F-box and leucine-rich repeat protein 10 isoform 1124 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding ovary(1)|skin(1) 2 GACGGGCTGTCGCCGGATGAT 0.627 HIP1R 9026 broad.mit.edu 37 12 123344320 123344320 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:123344320A>G uc001udj.1 + 24 2467 c.2408A>G c.(2407-2409)GAC>GGC p.D803G HIP1R_uc001udk.1_Missense_Mutation_p.D68G NM_003959 NP_003950 O75146 HIP1R_HUMAN huntingtin interacting protein-1-related 803 I/LWEQ. receptor-mediated endocytosis clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm actin binding|phosphatidylinositol binding ovary(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2) TGGGTGCAGGACATGATGAAC 0.667 PITPNM2 57605 broad.mit.edu 37 12 123481982 123481982 + Silent SNP G G A rs142848891 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:123481982G>A uc001uej.1 - 10 1501 c.1362C>T c.(1360-1362)AAC>AAT p.N454N PITPNM2_uc001uek.1_Silent_p.N454N NM_020845 NP_065896 Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, 454 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) TGTCGAACACGTTGGCGATGG 0.672 MPHOSPH9 10198 broad.mit.edu 37 12 123687585 123687585 + Missense_Mutation SNP A A C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:123687585A>C uc001uel.2 - 6 1018 c.911T>G c.(910-912)ATT>AGT p.I304S MPHOSPH9_uc010tal.1_Intron|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Intron NM_022782 NP_073619 Q99550 MPP9_HUMAN M-phase phosphoprotein 9 304 M phase of mitotic cell cycle centriole|Golgi membrane 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) AATCCCTGAAATCTGCTGCTT 0.483 NCOR2 9612 broad.mit.edu 37 12 124887004 124887004 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:124887004G>T uc010tba.1 - 14 1703 c.1586C>A c.(1585-1587)GCG>GAG p.A529E NCOR2_uc010tay.1_Missense_Mutation_p.A529E|NCOR2_uc010taz.1_Missense_Mutation_p.A529E|NCOR2_uc010tbb.1_Missense_Mutation_p.A529E|NCOR2_uc010tbc.1_Missense_Mutation_p.A528E|NCOR2_uc001ugj.1_Missense_Mutation_p.A529E NM_001077261 NP_001070729 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 2 529 Potential. cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity skin(3)|ovary(1) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) ctccttctccgcctccttttc 0.333 TMEM132D 121256 broad.mit.edu 37 12 130184470 130184470 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:130184470G>A uc009zyl.1 - 2 1181 c.853C>T c.(853-855)CGT>TGT p.R285C NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 285 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TTGTCCAGACGCAGTTCTCTC 0.527 EP400 57634 broad.mit.edu 37 12 132504627 132504627 + Silent SNP C C T rs113843264 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:132504627C>T uc001ujn.2 + 21 4346 c.4311C>T c.(4309-4311)CCC>CCT p.P1437P EP400_uc001ujl.2_Silent_p.P1436P|EP400_uc001ujm.2_Silent_p.P1437P NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 1473 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) GCCAGAAGCCCGAGGGTCGCA 0.647 GOLGA3 2802 broad.mit.edu 37 12 133350862 133350862 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:133350862C>T uc001ukz.1 - 23 4747 c.4188G>A c.(4186-4188)ACG>ACA p.T1396T NM_005895 NP_005886 Q08378 GOGA3_HUMAN Golgi autoantigen, golgin subfamily a, 3 1396 Potential. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) TCTTGATGGGCGTGGCAGGGT 0.607 MPHOSPH8 54737 broad.mit.edu 37 13 20235889 20235889 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr13:20235889G>A uc001umh.2 + 8 1852 c.1843G>A c.(1843-1845)GAC>AAC p.D615N MPHOSPH8_uc001umg.2_Missense_Mutation_p.D615N NM_017520 NP_059990 Q99549 MPP8_HUMAN M-phase phosphoprotein 8 615 ANK 1. cell cycle cytoplasm|nucleus 0 all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367) all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795) AGGGCAGGACGACCTCCTGCG 0.512 ZMYM5 9205 broad.mit.edu 37 13 20426206 20426206 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr13:20426206C>A uc010tcn.1 - 3 380 c.115G>T c.(115-117)GCT>TCT p.A39S ZMYM5_uc001umm.1_5'UTR|ZMYM5_uc001umn.2_Missense_Mutation_p.A39S|ZMYM5_uc001umo.2_Missense_Mutation_p.A39S NM_001142684 NP_001136156 Q9UJ78 ZMYM5_HUMAN zinc finger protein 237 isoform 3 39 nucleus zinc ion binding 0 all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431) AAAGGACAAGCTGGATGACCA 0.373 ZDHHC20 253832 broad.mit.edu 37 13 21976959 21976959 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr13:21976959C>T uc001uob.2 - 5 530 c.417G>A c.(415-417)GCG>GCA p.A139A ZDHHC20_uc001uod.2_RNA|ZDHHC20_uc001uoc.2_RNA|ZDHHC20_uc001uoe.2_RNA|ZDHHC20_uc010tcs.1_Silent_p.A76A NM_153251 NP_694983 Q5W0Z9 ZDH20_HUMAN zinc finger, DHHC-type containing 20 139 DHHC-type. integral to membrane acyltransferase activity|zinc ion binding ovary(1) 1 all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367) all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171) AGCAGTGATGCGCCCGATCAG 0.398 ATP8A2 51761 broad.mit.edu 37 13 26151257 26151257 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr13:26151257G>A uc001uqk.2 + 20 1905 c.1763G>A c.(1762-1764)CGG>CAG p.R588Q ATP8A2_uc010tdi.1_Missense_Mutation_p.R548Q|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.R98Q NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, 548 Cytoplasmic (Potential). ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|large_intestine(1)|skin(1) 4 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) GGACGACTTCGGCTTTACTGT 0.443 HSPH1 10808 broad.mit.edu 37 13 31729764 31729764 + Missense_Mutation SNP A A T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr13:31729764A>T uc001utj.2 - 3 591 c.193T>A c.(193-195)TCT>ACT p.S65T HSPH1_uc001utk.2_Missense_Mutation_p.S65T|HSPH1_uc010aaw.2_Missense_Mutation_p.S65T|HSPH1_uc001utl.2_Missense_Mutation_p.S67T|HSPH1_uc010tds.1_Missense_Mutation_p.S67T|HSPH1_uc010tdt.1_RNA|HSPH1_uc010aax.1_Missense_Mutation_p.S67T|HSPH1_uc010aay.1_Missense_Mutation_p.S67T NM_006644 NP_006635 Q92598 HS105_HUMAN heat shock 105kD 65 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding 0 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) TTGAAGTTAGACACCGTATTG 0.333 N4BP2L2 10443 broad.mit.edu 37 13 33092117 33092117 + Missense_Mutation SNP C C T rs117678407 byFrequency TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr13:33092117C>T uc001uuk.3 - 6 1752 c.1574G>A c.(1573-1575)CGA>CAA p.R525Q N4BP2L2_uc001uuj.2_Missense_Mutation_p.R41Q|N4BP2L2_uc010abe.1_Missense_Mutation_p.R96Q|N4BP2L2_uc010tdz.1_Missense_Mutation_p.R81Q NM_014887 NP_055702 Q92802 N42L2_HUMAN phosphonoformate immuno-associated protein 5 525 0 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) AATCTTCTTTCGAGACACACC 0.343 PDS5B 23047 broad.mit.edu 37 13 33347331 33347331 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr13:33347331G>A uc010abf.2 + 34 4335 c.4177G>A c.(4177-4179)GTA>ATA p.V1393I PDS5B_uc010abg.2_Intron NM_015032 NP_055847 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog 1393 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding ovary(2)|lung(1)|pancreas(1) 4 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) CTCTAGCCGTGTAGGACGCTC 0.393 TRPC4 7223 broad.mit.edu 37 13 38266432 38266432 + Missense_Mutation SNP C C T rs147415849 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr13:38266432C>T uc001uws.2 - 4 1173 c.938G>A c.(937-939)CGC>CAC p.R313H TRPC4_uc010abv.2_Intron|TRPC4_uc001uwt.2_Missense_Mutation_p.R313H|TRPC4_uc010tey.1_Missense_Mutation_p.R313H|TRPC4_uc010abw.2_Missense_Mutation_p.R140H|TRPC4_uc010abx.2_Missense_Mutation_p.R313H|TRPC4_uc010aby.2_Missense_Mutation_p.R313H NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 313 Cytoplasmic (Potential). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) ATCGTACCAGCGAGATGCCAG 0.458 FREM2 341640 broad.mit.edu 37 13 39262147 39262147 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr13:39262147C>T uc001uwv.2 + 1 975 c.666C>T c.(664-666)TCC>TCT p.S222S NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 222 Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GCATCCTGTCCGGCTTGGGCG 0.672 FREM2 341640 broad.mit.edu 37 13 39422774 39422774 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr13:39422774G>A uc001uwv.2 + 8 6655 c.6346G>A c.(6346-6348)GCC>ACC p.A2116T FREM2_uc001uww.2_Missense_Mutation_p.A202T NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 2116 Extracellular (Potential). A -> T (in Ref. 3; BAC87040). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GCCCAGCAAAGCCACAGTGTC 0.408 KIAA0564 23078 broad.mit.edu 37 13 42277527 42277527 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr13:42277527G>A uc001uyj.2 - 27 3207 c.3137C>T c.(3136-3138)ACG>ATG p.T1046M NM_015058 NP_055873 A3KMH1 K0564_HUMAN hypothetical protein LOC23078 isoform a 1046 extracellular region ATP binding|ATPase activity ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1) 6 Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969) GCCCATGAACGTTTGTTCTGG 0.373 DGKH 160851 broad.mit.edu 37 13 42742861 42742861 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr13:42742861G>A uc001uyl.1 + 11 1295 c.1274G>A c.(1273-1275)CGA>CAA p.R425Q DGKH_uc010tfh.1_Missense_Mutation_p.R425Q|DGKH_uc001uym.1_Missense_Mutation_p.R425Q|DGKH_uc010tfi.1_Missense_Mutation_p.R180Q|DGKH_uc010tfj.1_Missense_Mutation_p.R280Q|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Missense_Mutation_p.R280Q|DGKH_uc001uyp.2_RNA NM_178009 NP_821077 Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta isoform 2 425 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(2) 2 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) GACCTTGCCCGAGTTCTTGGC 0.483 ZC3H13 23091 broad.mit.edu 37 13 46543351 46543351 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr13:46543351C>T uc010tfw.1 - 13 3334 c.3328G>A c.(3328-3330)GCC>ACC p.A1110T ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Missense_Mutation_p.A1110T|ZC3H13_uc001vat.1_Missense_Mutation_p.A1110T NM_015070 NP_055885 Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 1110 nucleic acid binding|zinc ion binding ovary(1)|lung(1) 2 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) gtagcagtggcagtagccaca 0.249 ZC3H13 23091 broad.mit.edu 37 13 46559533 46559533 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr13:46559533C>T uc010tfw.1 - 9 1625 c.1619G>A c.(1618-1620)CGT>CAT p.R540H ZC3H13_uc001vas.1_Missense_Mutation_p.R540H|ZC3H13_uc001vat.1_Missense_Mutation_p.R540H NM_015070 NP_055885 Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 540 Arg/Ser-rich. nucleic acid binding|zinc ion binding ovary(1)|lung(1) 2 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) TATTTCCGTACGAGAACTTTC 0.458 ZC3H13 23091 broad.mit.edu 37 13 46616316 46616316 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr13:46616316A>G uc010tfw.1 - 3 328 c.322T>C c.(322-324)TCA>CCA p.S108P ZC3H13_uc001vas.1_Missense_Mutation_p.S108P|ZC3H13_uc001vat.1_Missense_Mutation_p.S108P NM_015070 NP_055885 Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 108 nucleic acid binding|zinc ion binding ovary(1)|lung(1) 2 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) GGTGAGGATGACTCCTCTGTA 0.398 RCBTB1 55213 broad.mit.edu 37 13 50125518 50125518 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr13:50125518T>C uc001vde.1 - 8 1059 c.798A>G c.(796-798)GGA>GGG p.G266G NM_018191 NP_060661 Q8NDN9 RCBT1_HUMAN regulator of chromosome condensation (RCC1) and 266 RCC1 5. cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(1) 1 Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;4.7e-09) TATTGCCAGTTCCCAGCTGCC 0.493 TDRD3 81550 broad.mit.edu 37 13 61102603 61102603 + Missense_Mutation SNP G G A rs140988326 byFrequency TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr13:61102603G>A uc001via.2 + 11 1753 c.965G>A c.(964-966)CGA>CAA p.R322Q TDRD3_uc010aef.2_Missense_Mutation_p.R147Q|TDRD3_uc001vhz.3_Missense_Mutation_p.R322Q|TDRD3_uc010aeg.2_Missense_Mutation_p.R415Q|TDRD3_uc001vib.3_Missense_Mutation_p.R321Q NM_030794 NP_110421 Q9H7E2 TDRD3_HUMAN tudor domain containing 3 isoform 2 322 chromatin modification cytoplasm|nucleus chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity upper_aerodigestive_tract(1)|skin(1) 2 Prostate(109;0.173)|Breast(118;0.174) GBM - Glioblastoma multiforme(99;0.000291) CATCCTCCTCGAAATGATACC 0.398 C13orf34 79866 broad.mit.edu 37 13 73320743 73320743 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr13:73320743C>T uc001viv.1 + 10 1095 c.976C>T c.(976-978)CCA>TCA p.P326S C13orf34_uc010thq.1_Missense_Mutation_p.P101S|C13orf34_uc010aen.1_Missense_Mutation_p.P401S|C13orf34_uc010thr.1_Missense_Mutation_p.P256S|C13orf34_uc001viw.1_Missense_Mutation_p.P275S NM_024808 NP_079084 Q6PGQ7 BORA_HUMAN aurora borealis 326 cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization protein kinase binding 0 Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.000227) TGGCTGCTCGCCAATTAAAAA 0.398 GPR180 160897 broad.mit.edu 37 13 95279412 95279412 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr13:95279412G>A uc001vly.2 + 9 1388 c.1310G>A c.(1309-1311)CGC>CAC p.R437H GPR180_uc001vlz.2_Missense_Mutation_p.R336H|GPR180_uc010afi.2_Missense_Mutation_p.R198H NM_180989 NP_851320 Q86V85 GP180_HUMAN G protein-coupled receptor 180 precursor 437 integral to membrane breast(1) 1 all_neural(89;0.0684)|Medulloblastoma(90;0.163) CACAAAAGTCGCCCTCATTTC 0.358 HS6ST3 266722 broad.mit.edu 37 13 96743551 96743551 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr13:96743551C>T uc001vmw.2 + 1 459 c.435C>T c.(433-435)CGC>CGT p.R145R NM_153456 NP_703157 Q8IZP7 H6ST3_HUMAN heparan sulfate 6-O-sulfotransferase 3 145 Lumenal (Potential). integral to membrane sulfotransferase activity p.R145C(1) ovary(1)|skin(1) 2 all_neural(89;0.0878)|Medulloblastoma(90;0.163) TCAAAGGGCGCGACGTGATCG 0.612 FARP1 10160 broad.mit.edu 37 13 99092253 99092253 + Nonsense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr13:99092253C>A uc001vnj.2 + 22 2808 c.2472C>A c.(2470-2472)TGC>TGA p.C824* FARP1_uc001vnh.2_Nonsense_Mutation_p.C855* NM_005766 NP_005757 Q9Y4F1 FARP1_HUMAN FERM, RhoGEF, and pleckstrin domain protein 1 824 PH 1. regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(2) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) TGCCCCACTGCCTGACCCTCC 0.612 NALCN 259232 broad.mit.edu 37 13 101710303 101710303 + Missense_Mutation SNP G G A rs143587652 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr13:101710303G>A uc001vox.1 - 43 5200 c.5011C>T c.(5011-5013)CGT>TGT p.R1671C NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 1671 Cytoplasmic (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GAGGGCAGACGCCACTGCCCA 0.542 MYO16 23026 broad.mit.edu 37 13 109459100 109459100 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr13:109459100T>C uc001vqt.1 + 7 875 c.749T>C c.(748-750)ATA>ACA p.I250T MYO16_uc010agk.1_Missense_Mutation_p.I272T|MYO16_uc001vqu.1_Missense_Mutation_p.I50T NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 250 ANK 6. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) GACCTCAACATAGTAGATGAT 0.418 SOX1 6656 broad.mit.edu 37 13 112722004 112722004 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr13:112722004A>G uc001vsb.1 + 1 92 c.32A>G c.(31-33)CAC>CGC p.H11R NM_005986 NP_005977 O00570 SOX1_HUMAN SRY (sex determining region Y)-box 1 11 chromatin organization nucleus core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231) OV - Ovarian serous cystadenocarcinoma(48;0.132) ACCGACCTGCACTCGCCCGGC 0.572 TMCO3 55002 broad.mit.edu 37 13 114174950 114174950 + Silent SNP C C T rs150929637 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr13:114174950C>T uc001vtu.3 + 8 1606 c.1245C>T c.(1243-1245)ACC>ACT p.T415T TMCO3_uc001vtt.3_Silent_p.T415T NM_017905 NP_060375 Q6UWJ1 TMCO3_HUMAN transmembrane and coiled-coil domains 3 415 integral to membrane solute:hydrogen antiporter activity 0 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983) all cancers(43;0.0317) ACTACAGCACCGTGCTCCTCG 0.537 TEP1 7011 broad.mit.edu 37 14 20854765 20854765 + Missense_Mutation SNP A A C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:20854765A>C uc001vxe.2 - 19 2742 c.2702T>G c.(2701-2703)CTT>CGT p.L901R TEP1_uc010ahk.2_Missense_Mutation_p.L251R|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.L793R NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 901 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) TGAAATGAAAAGCCGGATGCT 0.592 OSGEP 55644 broad.mit.edu 37 14 20916315 20916315 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:20916315T>C uc001vxf.2 - 7 1008 c.652A>G c.(652-654)ATG>GTG p.M218V NM_017807 NP_060277 Q9NPF4 OSGEP_HUMAN O-sialoglycoprotein endopeptidase 218 proteolysis|tRNA processing metal ion binding|metalloendopeptidase activity|protein binding 0 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;1.09e-07)|all cancers(55;1.19e-06) GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196) GTGGCCAGCATCCGATGGGCT 0.433 EDDM3B 64184 broad.mit.edu 37 14 21238745 21238745 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:21238745G>A uc001vyd.2 + 2 534 c.436G>A c.(436-438)GGC>AGC p.G146S NM_022360 NP_071755 P56851 EP3B_HUMAN human epididymis-specific 3 beta precursor 146 spermatid development extracellular region ovary(1) 1 AGAACCTATCGGCAACTAGAA 0.453 RAB2B 84932 broad.mit.edu 37 14 21936840 21936840 + Silent SNP G G A rs150391208 byFrequency TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:21936840G>A uc010tlt.1 - 4 359 c.258C>T c.(256-258)TAC>TAT p.Y86Y RAB2B_uc010tls.1_Silent_p.Y40Y|RAB2B_uc001wax.2_Silent_p.Y21Y|RAB2B_uc010ain.2_Intron NM_032846 NP_116235 Q8WUD1 RAB2B_HUMAN RAB2B protein isoform 1 86 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane|plasma membrane GTP binding ovary(1) 1 all_cancers(95;0.000858) Epithelial(56;1.53e-06)|all cancers(55;1.44e-05) GBM - Glioblastoma multiforme(265;0.00391) TTGTAATGTCGTACACCAGCA 0.458 HOMEZ 57594 broad.mit.edu 37 14 23745054 23745054 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:23745054C>T uc001wja.2 - 2 1531 c.1383G>A c.(1381-1383)CCG>CCA p.P461P HOMEZ_uc001wjb.2_Silent_p.P463P NM_020834 NP_065885 Q8IX15 HOMEZ_HUMAN homeodomain leucine zipper protein 461 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(95;5.54e-06) GBM - Glioblastoma multiforme(265;0.00643) GTTGTATATCCGGTGGGGGTG 0.557 MYH7 4625 broad.mit.edu 37 14 23887443 23887443 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:23887443C>T uc001wjx.2 - 30 4251 c.4145G>A c.(4144-4146)CGG>CAG p.R1382Q MIR208B_hsa-mir-208b|MI0005570_5'Flank NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1382 Potential. R -> W (in CMH1). adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CTCCTCAGTCCGCTGAATGGC 0.637 LRRC16B 90668 broad.mit.edu 37 14 24525864 24525864 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:24525864T>C uc001wlj.2 + 12 1056 c.899T>C c.(898-900)TTC>TCC p.F300S NM_138360 NP_612369 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 300 ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(265;0.019) CTCCTCTGCTTCCCCTCTGGC 0.622 TGM1 7051 broad.mit.edu 37 14 24729876 24729876 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:24729876C>T uc001wod.2 - 4 661 c.537G>A c.(535-537)ACG>ACA p.T179T TGM1_uc010tog.1_Intron NM_000359 NP_000350 P22735 TGM1_HUMAN transglutaminase 1 179 cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) TGATCACGTGCGTGCCCTTGC 0.612 LTB4R2 56413 broad.mit.edu 37 14 24780931 24780931 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:24780931C>T uc001woq.1 + 1 2771 c.1154C>T c.(1153-1155)CCG>CTG p.P385L CIDEB_uc001woo.2_5'Flank|CIDEB_uc001wop.2_5'Flank|LTB4R2_uc001wor.2_Missense_Mutation_p.P354L|LTB4R_uc001wos.2_5'UTR|LTB4R_uc010alp.2_5'Flank|LTB4R_uc001wou.2_5'Flank NM_019839 NP_062813 Q9NPC1 LT4R2_HUMAN leukotriene B4 receptor 2 385 Cytoplasmic (Potential). chemotaxis|negative regulation of adenylate cyclase activity integral to plasma membrane 0 GBM - Glioblastoma multiforme(265;0.018) AAGGACGGTCCGGAATGGGAC 0.627 NYNRIN 57523 broad.mit.edu 37 14 24880323 24880323 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:24880323T>C uc001wpf.3 + 5 2774 c.2456T>C c.(2455-2457)ATG>ACG p.M819T NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN hypothetical protein LOC57523 819 DNA integration integral to membrane DNA binding ovary(2)|central_nervous_system(1) 3 GGAATTGCCATGGCAGTGCAG 0.597 OREG0022626 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NYNRIN 57523 broad.mit.edu 37 14 24884436 24884436 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:24884436C>T uc001wpf.3 + 9 3799 c.3481C>T c.(3481-3483)CGC>TGC p.R1161C NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN hypothetical protein LOC57523 1161 DNA integration integral to membrane DNA binding ovary(2)|central_nervous_system(1) 3 GCTGCCCTTCCGCCTGGAGGT 0.647 STRN3 29966 broad.mit.edu 37 14 31424869 31424869 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:31424869C>T uc001wqu.2 - 3 633 c.417G>A c.(415-417)ACG>ACA p.T139T STRN3_uc001wqv.2_Silent_p.T139T|STRN3_uc010tpj.1_RNA NM_001083893 NP_001077362 Q13033 STRN3_HUMAN nuclear autoantigen isoform 1 139 negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.0124) GGTTCAGTTCCGTGCCATATT 0.299 HECTD1 25831 broad.mit.edu 37 14 31575978 31575978 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:31575978G>A uc001wrc.1 - 38 7589 c.7100C>T c.(7099-7101)GCT>GTT p.A2367V HECTD1_uc001wra.1_Missense_Mutation_p.A493V|HECTD1_uc001wrb.1_Missense_Mutation_p.A493V NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 2367 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity ovary(3)|large_intestine(1)|lung(1) 5 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) CCTCTTGATAGCAAGGTCTTT 0.388 AKAP6 9472 broad.mit.edu 37 14 33292305 33292305 + Silent SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:33292305C>A uc001wrq.2 + 13 5456 c.5286C>A c.(5284-5286)ACC>ACA p.T1762T NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 1762 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) CTACCCTTACCTTGACTGAAG 0.453 EAPP 55837 broad.mit.edu 37 14 34985626 34985626 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:34985626C>T uc001wsd.1 - 6 857 c.748G>A c.(748-750)GTG>ATG p.V250M NM_018453 NP_060923 Q56P03 EAPP_HUMAN E2F-associated phosphoprotein 250 negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter Golgi apparatus|nucleus|plasma membrane ovary(1) 1 Breast(36;0.0473)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18) GBM - Glioblastoma multiforme(112;0.0196) ATTTCTTCCACATCTGTCTCT 0.443 NKX2-1 7080 broad.mit.edu 37 14 36987203 36987203 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:36987203C>T uc001wtt.2 - 2 737 c.396G>A c.(394-396)GCG>GCA p.A132A SFTA3_uc001wts.2_Intron|NKX2-1_uc001wtu.2_Silent_p.A162A|NKX2-1_uc001wtv.2_Silent_p.A132A|uc001wtw.1_5'Flank NM_003317 NP_003308 P43699 NKX21_HUMAN thyroid transcription factor 1 isoform 2 132 epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development protein binding|transcription regulatory region DNA binding skin(1) 1 all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165) Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132) GBM - Glioblastoma multiforme(112;0.0171) TCATGCCGCTCGCCGGGCCCA 0.716 A NSCLC FSCB 84075 broad.mit.edu 37 14 44974717 44974717 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:44974717G>A uc001wvn.2 - 1 1783 c.1474C>T c.(1474-1476)CGG>TGG p.R492W NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 492 Ala-rich. cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) AGTGGAGACCGAGCTTCGGCA 0.507 FAM179B 23116 broad.mit.edu 37 14 45478141 45478141 + Missense_Mutation SNP G G A rs145931350 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:45478141G>A uc001wvv.2 + 6 3139 c.2930G>A c.(2929-2931)CGT>CAT p.R977H FAM179B_uc001wvw.2_Missense_Mutation_p.R977H|FAM179B_uc010anc.2_Intron NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN hypothetical protein LOC23116 977 Ser-rich. binding skin(2)|upper_aerodigestive_tract(1) 3 AGGTCCCTTCGTAATAGTGCA 0.358 TMX1 81542 broad.mit.edu 37 14 51710663 51710663 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:51710663C>T uc001wza.3 + 2 367 c.242C>T c.(241-243)GCG>GTG p.A81V TMX1_uc010tqr.1_Missense_Mutation_p.A81V|TMX1_uc010aoa.2_5'UTR NM_030755 NP_110382 Q9H3N1 TMX1_HUMAN thioredoxin domain containing 1 precursor 81 Thioredoxin.|Extracellular (Potential). anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction endoplasmic reticulum membrane|integral to membrane|membrane fraction arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity 0 GTTAATATTGCGAAAGTAGAT 0.398 KIAA0831 22863 broad.mit.edu 37 14 55836420 55836420 + Missense_Mutation SNP C C T rs144919020 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:55836420C>T uc001xbx.1 - 10 1432 c.1396G>A c.(1396-1398)GCG>ACG p.A466T FBXO34_uc001xbv.2_Intron|KIAA0831_uc001xbw.1_Missense_Mutation_p.A353T NM_014924 NP_055739 Q6ZNE5 BAKOR_HUMAN Barkor 466 autophagic vacuole assembly|positive regulation of autophagy autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane protein binding 0 CTGCTGCTCGCGATGGGTGGG 0.567 SYT16 83851 broad.mit.edu 37 14 62547711 62547711 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:62547711G>A uc001xfu.1 + 4 1350 c.1153G>A c.(1153-1155)GTC>ATC p.V385I SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_5'UTR NM_031914 NP_114120 Q17RD7 SYT16_HUMAN synaptotagmin XIV-like 385 C2 1. central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) CCGAAGTGGTGTCAACTCCTG 0.542 SYNE2 23224 broad.mit.edu 37 14 64634309 64634309 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:64634309T>C uc001xgm.2 + 92 17087 c.16857T>C c.(16855-16857)GAT>GAC p.D5619D SYNE2_uc001xgl.2_Silent_p.D5619D|SYNE2_uc010apy.2_Silent_p.D2004D|SYNE2_uc001xgn.2_Silent_p.D581D|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_5'UTR|SYNE2_uc001xgq.2_5'UTR NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 5619 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TCAAAGTGGATGTGGCTAACA 0.458 PLEK2 26499 broad.mit.edu 37 14 67862133 67862133 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:67862133C>T uc001xjh.1 - 3 427 c.375G>A c.(373-375)CCG>CCA p.P125P NM_016445 NP_057529 Q9NYT0 PLEK2_HUMAN pleckstrin 2 125 actin cytoskeleton organization|intracellular signal transduction cytoplasm|cytoskeleton|lamellipodium membrane ovary(1)|pancreas(1) 2 all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953) GGCTGATGTGCGGGGGCAGCT 0.662 PCNX 22990 broad.mit.edu 37 14 71542931 71542931 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:71542931C>T uc001xmo.2 + 28 5578 c.5132C>T c.(5131-5133)TCG>TTG p.S1711L PCNX_uc010are.1_Missense_Mutation_p.S1600L|PCNX_uc010arf.1_Missense_Mutation_p.S499L NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 1711 integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) GTTACGACCTCGTCTAAGCTA 0.368 SIPA1L1 26037 broad.mit.edu 37 14 72205804 72205804 + Nonsense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:72205804G>T uc001xms.2 + 22 5689 c.5341G>T c.(5341-5343)GAG>TAG p.E1781* SIPA1L1_uc001xmt.2_Nonsense_Mutation_p.E1760*|SIPA1L1_uc001xmu.2_Nonsense_Mutation_p.E1759*|SIPA1L1_uc001xmv.2_Nonsense_Mutation_p.E1780*|SIPA1L1_uc010ttm.1_Nonsense_Mutation_p.E1234*|SIPA1L1_uc001xmw.2_Nonsense_Mutation_p.E546* NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1781 Potential. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity ovary(3)|breast(1) 4 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) GAGGCTACAGGAGGAGTCCCA 0.532 FAM161B 145483 broad.mit.edu 37 14 74413287 74413287 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:74413287C>T uc001xpd.1 - 2 182 c.76G>A c.(76-78)GCA>ACA p.A26T NM_152445 NP_689658 hypothetical protein LOC145483 ovary(1) 1 TCTGTGTCTGCGAAGGACTCG 0.463 YLPM1 56252 broad.mit.edu 37 14 75296006 75296006 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:75296006A>G uc001xqj.3 + 19 6378 c.6254A>G c.(6253-6255)GAT>GGT p.D2085G YLPM1_uc001xql.3_RNA NM_019589 NP_062535 P49750 YLPM1_HUMAN YLP motif containing 1 1890 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck ovary(2)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) CAGCTCCCCGATGATTATGAT 0.473 DLST 1743 broad.mit.edu 37 14 75367834 75367834 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:75367834C>T uc001xqv.2 + 14 1188 c.1125C>T c.(1123-1125)GGC>GGT p.G375G DLST_uc001xqu.2_Silent_p.G287G|DLST_uc001xqt.2_Silent_p.G291G|DLST_uc010tuw.1_Silent_p.G289G NM_001933 NP_001924 P36957 ODO2_HUMAN dihydrolipoamide S-succinyltransferase (E2 375 lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus dihydrolipoyllysine-residue succinyltransferase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00698) GCAATGGAGGCGTTTTTGGCT 0.473 TTLL5 23093 broad.mit.edu 37 14 76368503 76368503 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:76368503G>A uc001xrx.2 + 31 3964 c.3759G>A c.(3757-3759)GGG>GGA p.G1253G TTLL5_uc001xsa.2_Silent_p.G327G NM_015072 NP_055887 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 1253 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity ovary(2)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.029) CCGCGGAAGGGCAGCTGAATG 0.567 ESRRB 2103 broad.mit.edu 37 14 76928920 76928920 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:76928920G>A uc001xsq.1 + 3 497 c.430G>A c.(430-432)GAG>AAG p.E144K ESRRB_uc001xsr.2_Missense_Mutation_p.E144K|ESRRB_uc001xso.2_RNA NM_004452 NP_004443 A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 144 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.0213) GGCCACCAACGAGTGCGAGAT 0.637 ISM2 145501 broad.mit.edu 37 14 77942189 77942189 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:77942189C>T uc001xtz.2 - 7 1539 c.1465G>A c.(1465-1467)GCC>ACC p.A489T ISM2_uc001xua.2_3'UTR|ISM2_uc001xty.2_Missense_Mutation_p.A401T|ISM2_uc010tvl.1_Missense_Mutation_p.A408T NM_199296 NP_954993 Q6H9L7 ISM2_HUMAN isthmin 2 homolog isoform 1 489 AMOP. extracellular region skin(1) 1 CAGTGCTGGGCGGCCAGTGTG 0.662 KCNK10 54207 broad.mit.edu 37 14 88729810 88729810 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:88729810C>T uc001xwo.2 - 2 580 c.123G>A c.(121-123)CCG>CCA p.P41P KCNK10_uc001xwm.2_Silent_p.P46P|KCNK10_uc001xwn.2_Silent_p.P46P NM_021161 NP_066984 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 41 Cytoplasmic (Potential). signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity ovary(2)|skin(2)|pancreas(1) 5 TGGACAGGCGCGGAGTTGGAG 0.652 TTC7B 145567 broad.mit.edu 37 14 91247111 91247111 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:91247111C>T uc001xyp.2 - 3 538 c.416G>A c.(415-417)CGG>CAG p.R139Q NM_001010854 NP_001010854 Q86TV6 TTC7B_HUMAN tetratricopeptide repeat domain 7B 139 binding ovary(2) 2 Melanoma(154;0.222) TGCGATCACCCGCAGCCTGTA 0.567 KIAA1409 57578 broad.mit.edu 37 14 94087971 94087971 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:94087971A>G uc001ybv.1 + 28 4010 c.3927A>G c.(3925-3927)GAA>GAG p.E1309E KIAA1409_uc001ybs.1_Silent_p.E1287E NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1464 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) GATCAGGTGAAATAGAACTGG 0.393 PPP4R4 57718 broad.mit.edu 37 14 94674876 94674876 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:94674876G>A uc001ycs.1 + 3 421 c.267G>A c.(265-267)ACG>ACA p.T89T PPP4R4_uc001ycr.2_Silent_p.T89T NM_058237 NP_478144 Q6NUP7 PP4R4_HUMAN HEAT-like repeat-containing protein isoform 1 89 cytoplasm|protein serine/threonine phosphatase complex protein binding p.T89M(1) skin(3)|upper_aerodigestive_tract(1) 4 CCACTGAGACGCTTCGGAGAG 0.388 SERPINA12 145264 broad.mit.edu 37 14 94964713 94964713 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:94964713C>T uc001ydj.2 - 3 818 c.22G>A c.(22-24)GCC>ACC p.A8T NM_173850 NP_776249 Q8IW75 SPA12_HUMAN serine (or cysteine) proteinase inhibitor, clade 8 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(2)|ovary(1)|lung(1) 4 COAD - Colon adenocarcinoma(157;0.235) AGAAAAATGGCCAGGCCTAGT 0.453 SERPINA5 5104 broad.mit.edu 37 14 95053815 95053815 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:95053815C>T uc001ydm.2 + 3 326 c.116C>T c.(115-117)ACG>ATG p.T39M SERPINA5_uc010ave.2_Missense_Mutation_p.T39M|SERPINA5_uc001ydn.1_Missense_Mutation_p.T39M NM_000624 NP_000615 P05154 IPSP_HUMAN serine (or cysteine) proteinase inhibitor, clade 39 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity ovary(2) 2 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) GTAGGTGCCACGGTGGCCCCC 0.622 KIAA0284 283638 broad.mit.edu 37 14 105346747 105346747 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:105346747C>T uc010axb.2 + 6 681 c.457C>T c.(457-459)CGG>TGG p.R153W INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Missense_Mutation_p.R83W|KIAA0284_uc001yps.2_Missense_Mutation_p.R59W NM_001112726 NP_001106197 Q9Y4F5 K0284_HUMAN hypothetical protein LOC283638 isoform 1 153 cytoplasm|microtubule breast(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.178) GAAGGGGGACCGGAGACCAGG 0.667 AHNAK2 113146 broad.mit.edu 37 14 105406444 105406444 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:105406444T>C uc010axc.1 - 7 15464 c.15344A>G c.(15343-15345)CAG>CGG p.Q5115R AHNAK2_uc001ypx.2_Missense_Mutation_p.Q5015R NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 5115 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) AGCTTCAGGCTGGCTCACCTC 0.582 RYR3 6263 broad.mit.edu 37 15 34113561 34113561 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:34113561G>A uc001zhi.2 + 79 10976 c.10906G>A c.(10906-10908)GCT>ACT p.A3636T RYR3_uc010bar.2_Missense_Mutation_p.A3631T NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 3636 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GATGATAAGCGCTAGCAAAGG 0.473 RYR3 6263 broad.mit.edu 37 15 34145278 34145278 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:34145278T>C uc001zhi.2 + 95 13731 c.13661T>C c.(13660-13662)GTA>GCA p.V4554A RYR3_uc010bar.2_Missense_Mutation_p.V4549A NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 4554 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GACAAGTTTGTAAAGAGAAAG 0.353 C15orf55 256646 broad.mit.edu 37 15 34649679 34649679 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:34649679G>A uc001zif.2 + 7 3541 c.3386G>A c.(3385-3387)CGT>CAT p.R1129H C15orf55_uc010ucc.1_Missense_Mutation_p.R1157H|C15orf55_uc010ucd.1_Missense_Mutation_p.R1147H NM_175741 NP_786883 Q86Y26 NUT_HUMAN nuclear protein in testis 1129 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) midline_organs(25)|ovary(2)|lung(2)|skin(1) 30 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) AAGAAACGACGTCGTAGCCAG 0.587 T BRD3|BRD4 lethal midline carcinoma LPCAT4 254531 broad.mit.edu 37 15 34655878 34655878 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:34655878C>T uc001zig.2 - 6 789 c.695G>A c.(694-696)CGC>CAC p.R232H NM_153613 NP_705841 Q643R3 LPCT4_HUMAN lysophosphatidylcholine acyltransferase 4 232 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity|calcium ion binding 0 GTTGGGGTAGCGGATGAGGAC 0.512 INO80 54617 broad.mit.edu 37 15 41366688 41366688 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:41366688G>A uc001zni.2 - 10 1420 c.1207C>T c.(1207-1209)CGA>TGA p.R403* INO80_uc010ucu.1_RNA NM_017553 NP_060023 Q9ULG1 INO80_HUMAN INO80 complex homolog 1 403 Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|DBINO. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity ovary(2)|pancreas(1)|skin(1) 4 CCCATATCTCGTTTGCGACTC 0.423 LTK 4058 broad.mit.edu 37 15 41800405 41800405 + Nonsense_Mutation SNP C C A rs141049740 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:41800405C>A uc001zoa.3 - 9 1289 c.1111G>T c.(1111-1113)GGA>TGA p.G371* LTK_uc001zob.3_Nonsense_Mutation_p.G310*|LTK_uc010ucx.1_Nonsense_Mutation_p.G310*|LTK_uc010bcg.2_Nonsense_Mutation_p.G53* NM_002344 NP_002335 P29376 LTK_HUMAN leukocyte receptor tyrosine kinase isoform 1 371 Extracellular (Potential). apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity lung(6)|central_nervous_system(1) 7 all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172) OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113) TCTACCTCTCCGTGGTTCTCG 0.458 TSP Lung(18;0.14) LTK 4058 broad.mit.edu 37 15 41804949 41804949 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:41804949C>T uc001zoa.3 - 3 493 c.315G>A c.(313-315)CTG>CTA p.L105L LTK_uc001zob.3_Silent_p.L105L|LTK_uc010ucx.1_Silent_p.L105L|LTK_uc010bcg.2_Intron NM_002344 NP_002335 P29376 LTK_HUMAN leukocyte receptor tyrosine kinase isoform 1 105 Extracellular (Potential). apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity lung(6)|central_nervous_system(1) 7 all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172) OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113) GCACGCCTCTCAGCTGCCCGG 0.697 TSP Lung(18;0.14) MAPKBP1 23005 broad.mit.edu 37 15 42105236 42105236 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:42105236G>A uc001zok.3 + 8 1042 c.756G>A c.(754-756)ACG>ACA p.T252T MAPKBP1_uc001zoj.3_Silent_p.T252T|MAPKBP1_uc010bcj.2_5'UTR|MAPKBP1_uc010bci.2_Silent_p.T252T|MAPKBP1_uc010udb.1_Silent_p.T140T|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_5'UTR NM_001128608 NP_001122080 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 252 central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 10 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) TCTGCATCACGTCCTCAGGGC 0.577 CDAN1 146059 broad.mit.edu 37 15 43021275 43021275 + Missense_Mutation SNP C C A rs145082607 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:43021275C>A uc001zql.2 - 19 2708 c.2591G>T c.(2590-2592)CGG>CTG p.R864L CDAN1_uc001zqj.2_RNA|CDAN1_uc001zqk.2_Missense_Mutation_p.R190L NM_138477 NP_612486 Q8IWY9 CDAN1_HUMAN codanin 1 864 integral to membrane protein binding ovary(2) 2 all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;2.49e-07) CTCTACGGTCCGGCGCAAGGA 0.562 LCMT2 9836 broad.mit.edu 37 15 43622232 43622232 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:43622232G>T uc001zrg.2 - 1 660 c.456C>A c.(454-456)AGC>AGA p.S152R LCMT2_uc010udn.1_Intron|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank NM_014793 NP_055608 O60294 LCMT2_HUMAN leucine carboxyl methyltransferase 2 152 tRNA processing methyltransferase activity|protein binding 0 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.1e-07) L-Leucine(DB00149) AGTAGTCTGCGCTCTCAAAGC 0.677 CKMT1B 1159 broad.mit.edu 37 15 43891410 43891410 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:43891410G>A uc001zsc.2 + 10 1585 c.1193G>A c.(1192-1194)CGG>CAG p.R398Q CKMT1B_uc010uds.1_Missense_Mutation_p.R429Q|CKMT1B_uc001zsd.3_Missense_Mutation_p.R398Q|CKMT1B_uc010bdj.2_RNA NM_020990 NP_066270 P12532 KCRU_HUMAN creatine kinase, mitochondrial 1B precursor 398 Phosphagen kinase C-terminal. creatine metabolic process mitochondrial inner membrane ATP binding|creatine kinase activity 0 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) Creatine(DB00148) GATTGTGAACGGCGTCTGGAG 0.493 WDR76 79968 broad.mit.edu 37 15 44131849 44131849 + Nonsense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:44131849C>T uc001zti.1 + 5 678 c.655C>T c.(655-657)CGA>TGA p.R219* NM_024908 NP_079184 Q9H967 WDR76_HUMAN WD repeat domain 76 219 0 all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417) all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07) AAGGTCAATGCGATTACTAAA 0.373 USP8 9101 broad.mit.edu 37 15 50774185 50774185 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:50774185C>A uc001zym.3 + 12 2226 c.1726C>A c.(1726-1728)CCA>ACA p.P576T USP8_uc001zyk.1_Missense_Mutation_p.P277T|USP8_uc001zyl.3_Missense_Mutation_p.P576T|USP8_uc001zyn.3_Missense_Mutation_p.P576T|USP8_uc010ufh.1_Missense_Mutation_p.P499T|USP8_uc010bev.1_Missense_Mutation_p.P205T NM_001128611 NP_001122083 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 576 cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(1)|central_nervous_system(1) 2 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) GAAAAGGTGTCCAACCCCAGA 0.343 TRPM7 54822 broad.mit.edu 37 15 50901830 50901830 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:50901830C>T uc001zyt.3 - 19 2792 c.2528G>A c.(2527-2529)CGA>CAA p.R843Q TRPM7_uc010bew.1_Missense_Mutation_p.R843Q|TRPM7_uc001zyu.2_Missense_Mutation_p.R401Q NM_017672 NP_060142 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, 843 Extracellular (Potential). cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1) 10 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) ATAAAACTTTCGCGTAATTGG 0.299 GLDN 342035 broad.mit.edu 37 15 51634199 51634199 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:51634199C>T uc002aba.2 + 1 487 c.318C>T c.(316-318)GCC>GCT p.A106A GLDN_uc010bez.1_Silent_p.A106A NM_181789 NP_861454 Q6ZMI3 GLDN_HUMAN gliomedin 106 Extracellular (Potential). cell differentiation|nervous system development collagen|integral to membrane|plasma membrane ovary(2) 2 all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942) ATATCCGCGCCGAGAGCCATG 0.726 UNC13C 440279 broad.mit.edu 37 15 54793039 54793039 + Nonsense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:54793039C>T uc002ack.2 + 20 5164 c.5164C>T c.(5164-5166)CAG>TAG p.Q1722* NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 1722 MHD1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) ACAGTTCCAGCAGACATCTGA 0.448 PIGB 9488 broad.mit.edu 37 15 55626105 55626105 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:55626105C>T uc002act.2 + 6 1010 c.694C>T c.(694-696)CGT>TGT p.R232C PIGB_uc010ugg.1_Missense_Mutation_p.R37C NM_004855 NP_004846 Q92521 PIGB_HUMAN phosphatidylinositol glycan, class B 232 Helical; (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane integral to membrane|intrinsic to endoplasmic reticulum membrane glycolipid mannosyltransferase activity 0 all cancers(107;0.0255) CTTCATAATTCGTCCCACAGC 0.383 CGNL1 84952 broad.mit.edu 37 15 57810601 57810601 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:57810601G>A uc002aeg.2 + 10 2697 c.2621G>A c.(2620-2622)CGA>CAA p.R874Q CGNL1_uc010bfw.2_Missense_Mutation_p.R874Q NM_032866 NP_116255 Q0VF96 CGNL1_HUMAN cingulin-like 1 874 Potential. myosin complex|tight junction motor activity p.R874R(1) skin(6)|ovary(4)|central_nervous_system(1) 11 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) GGAGAAATACGACAGTTAGAG 0.478 VPS13C 54832 broad.mit.edu 37 15 62148607 62148607 + Nonsense_Mutation SNP G G A rs138846118 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:62148607G>A uc002agz.2 - 83 11028 c.10954C>T c.(10954-10956)CGA>TGA p.R3652* VPS13C_uc002aha.2_Nonsense_Mutation_p.R3609* NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 3652 protein localization ovary(2) 2 CACAACACTCGCCTATTTTGC 0.378 TLN2 83660 broad.mit.edu 37 15 63054564 63054564 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:63054564A>G uc002alb.3 + 36 4873 c.4873A>G c.(4873-4875)AAC>GAC p.N1625D TLN2_uc002alc.3_Missense_Mutation_p.N18D|TLN2_uc002ald.2_Missense_Mutation_p.N18D NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 1625 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 TCTGGCCATCAACCCCAAAGA 0.542 ZNF609 23060 broad.mit.edu 37 15 64966762 64966762 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:64966762G>A uc002ann.2 + 4 1709 c.1709G>A c.(1708-1710)CGA>CAA p.R570Q NM_015042 NP_055857 O15014 ZN609_HUMAN zinc finger protein 609 570 nucleus zinc ion binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 CCCAAAGTTCGACTTGTAGAG 0.527 ITGA11 22801 broad.mit.edu 37 15 68623337 68623337 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:68623337C>A uc002ari.2 - 15 1970 c.1883G>T c.(1882-1884)GGC>GTC p.G628V ITGA11_uc010bib.2_Missense_Mutation_p.G628V NM_001004439 NP_001004439 Q9UKX5 ITA11_HUMAN integrin, alpha 11 precursor 628 FG-GAP 7.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity kidney(2)|pancreas(1) 3 Tirofiban(DB00775) CACAGCGTTGCCAAGGGCTCC 0.557 MYO9A 4649 broad.mit.edu 37 15 72170488 72170488 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:72170488G>A uc002atl.3 - 31 6297 c.5824C>T c.(5824-5826)CGT>TGT p.R1942C MYO9A_uc002atk.2_Missense_Mutation_p.R737C|MYO9A_uc002atm.1_Missense_Mutation_p.R738C NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN myosin IXA 1942 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity ovary(1)|pancreas(1)|skin(1) 3 AGTGAATCACGCTGCTCAAGC 0.383 PKM2 5315 broad.mit.edu 37 15 72502148 72502148 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:72502148A>G uc002atx.1 - 5 672 c.431T>C c.(430-432)CTG>CCG p.L144P PKM2_uc002ats.1_5'Flank|PKM2_uc002att.1_5'Flank|PKM2_uc002atu.1_5'UTR|PKM2_uc010bit.1_Missense_Mutation_p.L149P|PKM2_uc010uki.1_Missense_Mutation_p.L218P|PKM2_uc002atv.1_Missense_Mutation_p.L179P|PKM2_uc002atw.1_Missense_Mutation_p.L144P|PKM2_uc002aty.1_Missense_Mutation_p.L144P|PKM2_uc010ukj.1_Missense_Mutation_p.L129P|PKM2_uc010ukk.1_Missense_Mutation_p.L70P|PKM2_uc010biu.1_Missense_Mutation_p.L165P|PKM2_uc002atz.1_RNA NM_182471 NP_872271 P14618 KPYM_HUMAN pyruvate kinase, muscle isoform M1 144 glycolysis|programmed cell death cytosol|nucleus|plasma membrane ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity breast(1) 1 Pyruvic acid(DB00119) GGCGTTATCCAGCGTGATTTT 0.517 PML 5371 broad.mit.edu 37 15 74315711 74315711 + Missense_Mutation SNP G G A rs149871195 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:74315711G>A uc002awv.2 + 3 1285 c.1145G>A c.(1144-1146)CGC>CAC p.R382H PML_uc002awm.2_Missense_Mutation_p.R382H|PML_uc002awl.2_Missense_Mutation_p.R382H|PML_uc002awj.1_Missense_Mutation_p.R382H|PML_uc002awk.2_Missense_Mutation_p.R382H|PML_uc002awn.2_Missense_Mutation_p.R382H|PML_uc002awo.2_Missense_Mutation_p.R382H|PML_uc002awp.2_Missense_Mutation_p.R382H|PML_uc002awq.2_Missense_Mutation_p.R382H|PML_uc002awr.2_Missense_Mutation_p.R382H|PML_uc002aws.2_Missense_Mutation_p.R382H|PML_uc002awt.2_Missense_Mutation_p.R382H|PML_uc002awu.2_Missense_Mutation_p.R382H|PML_uc010ule.1_Intron|PML_uc002aww.1_Missense_Mutation_p.R297H|PML_uc002awx.2_Missense_Mutation_p.R140H|PML_uc002awy.2_5'Flank NM_033238 NP_150241 P29590 PML_HUMAN promyelocytic leukemia protein isoform 1 382 cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding central_nervous_system(2)|kidney(2)|breast(1) 5 TTCAAGGTGCGCCTGCAGGAC 0.672 T RARA|PAX5 APL|ALL ISLR2 57611 broad.mit.edu 37 15 74425791 74425791 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:74425791G>A uc002axd.2 + 4 1465 c.696G>A c.(694-696)CCG>CCA p.P232P ISLR2_uc002axe.2_Silent_p.P232P|ISLR2_uc010bjg.2_Silent_p.P232P|ISLR2_uc010bjf.2_Silent_p.P232P NM_001130136 NP_001123608 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing 232 Extracellular (Potential).|LRRCT. positive regulation of axon extension cell surface|integral to membrane|plasma membrane 0 CCTGTGCACCGCCCAGCGTGC 0.706 SIN3A 25942 broad.mit.edu 37 15 75692403 75692403 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:75692403C>T uc002bai.2 - 12 2091 c.1832G>A c.(1831-1833)CGT>CAT p.R611H SIN3A_uc002baj.2_Missense_Mutation_p.R611H|SIN3A_uc010uml.1_Missense_Mutation_p.R611H NM_015477 NP_056292 Q96ST3 SIN3A_HUMAN transcriptional co-repressor Sin3A 611 Interactions with SUDS3 and SAP130.|Interaction with NCOR1 (By similarity). blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding skin(3)|ovary(1)|lung(1) 5 ATCTTCACAACGATAAATATG 0.433 IREB2 3658 broad.mit.edu 37 15 78780136 78780136 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:78780136G>A uc002bdr.2 + 14 1933 c.1771G>A c.(1771-1773)GCA>ACA p.A591T IREB2_uc010unb.1_Missense_Mutation_p.A341T NM_004136 NP_004127 P48200 IREB2_HUMAN iron-responsive element binding protein 2 591 4 iron, 4 sulfur cluster binding|metal ion binding|protein binding 0 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) CTTATCAGACGCAGTTTTAAA 0.313 RASGRF1 5923 broad.mit.edu 37 15 79356791 79356791 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:79356791G>A uc002beq.2 - 2 729 c.354C>T c.(352-354)GAC>GAT p.D118D RASGRF1_uc002bep.2_Silent_p.D118D|RASGRF1_uc010blm.1_Silent_p.D40D|RASGRF1_uc002ber.3_Silent_p.D118D NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine 118 PH 1. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity skin(4)|ovary(1)|central_nervous_system(1) 6 CCACCCATTCGTCACAATCTT 0.532 FAH 2184 broad.mit.edu 37 15 80452206 80452206 + Missense_Mutation SNP G G A rs11555097 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:80452206G>A uc002bfj.2 + 4 383 c.301G>A c.(301-303)GAA>AAA p.E101K FAH_uc002bfk.1_Missense_Mutation_p.E101K|FAH_uc002bfm.1_Missense_Mutation_p.E101K|FAH_uc002bfn.1_Missense_Mutation_p.E31K|FAH_uc010unl.1_Missense_Mutation_p.E101K|FAH_uc002bfl.1_Missense_Mutation_p.E101K NM_000137 NP_000128 P16930 FAAA_HUMAN fumarylacetoacetase 101 L-phenylalanine catabolic process|tyrosine catabolic process cytosol fumarylacetoacetase activity|metal ion binding 0 AGATGACACCGAACTTCGGAA 0.572 Tyrosinemia_type_1 ALPK3 57538 broad.mit.edu 37 15 85410563 85410563 + Missense_Mutation SNP T T A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:85410563T>A uc002ble.2 + 13 5512 c.5345T>A c.(5344-5346)ATG>AAG p.M1782K ALPK3_uc010upc.1_Missense_Mutation_p.M83K NM_020778 NP_065829 Q96L96 ALPK3_HUMAN alpha-kinase 3 1782 Alpha-type protein kinase. heart development nucleus ATP binding|protein serine/threonine kinase activity stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1) 12 BRCA - Breast invasive adenocarcinoma(143;0.0587) GACTGGAAGATGACTGATGTG 0.527 AKAP13 11214 broad.mit.edu 37 15 86189060 86189060 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:86189060T>C uc002blv.1 + 10 4419 c.4249T>C c.(4249-4251)TTC>CTC p.F1417L AKAP13_uc002blt.1_Missense_Mutation_p.F1417L|AKAP13_uc002blu.1_Missense_Mutation_p.F1417L|AKAP13_uc010bnf.1_Missense_Mutation_p.F57L|AKAP13_uc010bne.1_Missense_Mutation_p.F70L NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 1417 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 ATGTGAGAACTTCCTGGATGT 0.348 FES 2242 broad.mit.edu 37 15 91428314 91428314 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:91428314C>T uc002bpv.2 + 2 135 c.39C>T c.(37-39)CAC>CAT p.H13H FES_uc010uqj.1_Silent_p.H13H|FES_uc010uqk.1_Silent_p.H13H|FES_uc002bpw.2_RNA|FES_uc010bny.2_Silent_p.H13H|FES_uc002bpx.2_Silent_p.H13H|FES_uc002bpy.2_Silent_p.H13H NM_002005 NP_001996 P07332 FES_HUMAN feline sarcoma oncogene isoform 1 13 FCH.|Important for interaction with membranes containing phosphoinositides. axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(2) 2 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) CCCAGGGCCACGGGGTCCTGC 0.617 ADAMTS17 170691 broad.mit.edu 37 15 100695507 100695507 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:100695507G>A uc002bvv.1 - 9 1279 c.1200C>T c.(1198-1200)GAC>GAT p.D400D ADAMTS17_uc002bvx.1_Silent_p.D157D NM_139057 NP_620688 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 400 Peptidase M12B. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) AGTGGTCATCGTCGTGGTTCA 0.557 ADAMTS17 170691 broad.mit.edu 37 15 100821466 100821466 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:100821466C>T uc002bvv.1 - 4 836 c.757G>A c.(757-759)GCC>ACC p.A253T ADAMTS17_uc002bvx.1_Missense_Mutation_p.A10T NM_139057 NP_620688 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 253 Peptidase M12B. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) AACCTCTGGGCGGCCTCGGCC 0.642 LRRK1 79705 broad.mit.edu 37 15 101588759 101588759 + Missense_Mutation SNP A A C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:101588759A>C uc002bwr.2 + 22 3515 c.3196A>C c.(3196-3198)ACA>CCA p.T1066P LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_Intron NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1066 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1) 12 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TTACAGTTTTACAGGAAACCA 0.423 LUC7L 55692 broad.mit.edu 37 16 239997 239997 + Missense_Mutation SNP C C T rs146490197 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:239997C>T uc002cgc.1 - 9 1055 c.944G>A c.(943-945)CGG>CAG p.R315Q LUC7L_uc002cga.1_Missense_Mutation_p.R315Q|LUC7L_uc002cgd.1_RNA|LUC7L_uc002cge.1_Missense_Mutation_p.R315Q|LUC7L_uc002cgb.1_Missense_Mutation_p.R229Q NM_201412 NP_958815 Q9NQ29 LUC7L_HUMAN LUC7-like isoform b 315 Arg/Ser-rich. metal ion binding central_nervous_system(1) 1 all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306) CCGGGAAGCCCGACGATGTCC 0.617 UBE2I 7329 broad.mit.edu 37 16 1370217 1370217 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:1370217C>T uc002clc.1 + 5 370 c.266C>T c.(265-267)TCG>TTG p.S89L UBE2I_uc002cld.1_Missense_Mutation_p.S89L|UBE2I_uc002clf.1_Missense_Mutation_p.S89L|UBE2I_uc002clg.1_Missense_Mutation_p.S89L|UBE2I_uc002clh.1_Missense_Mutation_p.S89L|UBE2I_uc002cli.1_Missense_Mutation_p.S89L NM_194261 NP_919237 P63279 UBC9_HUMAN ubiquitin-conjugating enzyme E2I 89 VYPS -> GVPF (in Ref. 6; AAC50603). cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation cytoplasm|PML body|synaptonemal complex ATP binding|enzyme binding|ubiquitin-protein ligase activity breast(1)|skin(1) 2 Hepatocellular(780;0.00369) GTGTACCCTTCGGGGACAGTG 0.557 GNPTG 84572 broad.mit.edu 37 16 1412640 1412640 + Missense_Mutation SNP T T G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:1412640T>G uc002clm.2 + 9 673 c.638T>G c.(637-639)TTT>TGT p.F213C NM_032520 NP_115909 Q9UJJ9 GNPTG_HUMAN N-acetylglucosamine-1-phosphotransferase, gamma 213 extracellular region|Golgi apparatus protein binding central_nervous_system(1) 1 Hepatocellular(780;0.0893) AGGACACTTTTTGAGGATGCT 0.602 IFT140 9742 broad.mit.edu 37 16 1574907 1574907 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:1574907G>A uc002cmb.2 - 23 3237 c.2875C>T c.(2875-2877)CGG>TGG p.R959W IFT140_uc002clz.2_Missense_Mutation_p.R572W NM_014714 NP_055529 Q96RY7 IF140_HUMAN intraflagellar transport 140 959 TPR 4. ovary(3)|pancreas(1)|skin(1) 5 Hepatocellular(780;0.219) GCCCACCACCGCCACAGGGTC 0.697 NUBP2 10101 broad.mit.edu 37 16 1837726 1837726 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:1837726A>G uc002cmw.3 + 4 472 c.383A>G c.(382-384)TAC>TGC p.Y128C NUBP2_uc002cmx.3_5'UTR|NUBP2_uc010brx.2_Missense_Mutation_p.Y68C NM_012225 NP_036357 Q9Y5Y2 NUBP2_HUMAN nucleotide binding protein 2 (MinD homolog, E. 128 microtubule organizing center|nucleus 4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding 0 GAGCTGGACTACCTGGTGGTG 0.672 SLC9A3R2 9351 broad.mit.edu 37 16 2086453 2086453 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:2086453G>A uc002coi.2 + 3 662 c.543G>A c.(541-543)CCG>CCA p.P181P SLC9A3R2_uc002coj.2_Silent_p.P181P|SLC9A3R2_uc002cok.2_Silent_p.P70P NM_001130012 NP_001123484 Q15599 NHRF2_HUMAN solute carrier family 9 isoform 3 regulator 2 181 PDZ 2. protein complex assembly apical plasma membrane|endomembrane system|nucleus beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding central_nervous_system(1) 1 CTGTGGACCCGGGCTCACCTG 0.697 DNASE1 1773 broad.mit.edu 37 16 3706167 3706167 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:3706167C>T uc002cvr.2 + 4 2408 c.301C>T c.(301-303)CGC>TGC p.R101C NM_005223 NP_005214 P24855 DNAS1_HUMAN deoxyribonuclease I precursor 101 apoptosis|DNA catabolic process extracellular region|nuclear envelope actin binding|deoxyribonuclease I activity 0 Ovarian(90;0.0261) Kidney(780;0.0556) Dornase Alfa(DB00003) CTATAAGGAGCGCTACCTGTT 0.562 Direct_reversal_of_damage GLIS2 84662 broad.mit.edu 37 16 4384878 4384878 + Missense_Mutation SNP C C G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:4384878C>G uc002cwc.1 + 3 479 c.422C>G c.(421-423)GCC>GGC p.A141G NM_032575 NP_115964 Q9BZE0 GLIS2_HUMAN GLIS family zinc finger 2 141 Interaction with CTNND1 (By similarity). cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development cytoplasm|nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding 0 TCCGGGGGGGCCCTGCACCTG 0.662 CORO7 79585 broad.mit.edu 37 16 4409582 4409582 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:4409582G>T uc002cwh.3 - 22 2269 c.2149C>A c.(2149-2151)CTG>ATG p.L717M CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Missense_Mutation_p.L717M|CORO7_uc002cwg.3_Missense_Mutation_p.L497M|CORO7_uc010uxh.1_Missense_Mutation_p.L699M|CORO7_uc010uxi.1_Missense_Mutation_p.L632M|CORO7_uc002cwi.1_Missense_Mutation_p.L497M NM_024535 NP_078811 P57737 CORO7_HUMAN coronin 7 717 cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction 0 CCGCCGGCCAGGGCCTCAGCT 0.652 OREG0023580 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) PPL 5493 broad.mit.edu 37 16 4933690 4933690 + Missense_Mutation SNP G G A rs140094738 byFrequency TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:4933690G>A uc002cyd.1 - 22 5056 c.4966C>T c.(4966-4968)CGC>TGC p.R1656C NM_002705 NP_002696 O60437 PEPL_HUMAN periplakin 1656 Plectin 1. keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(4)|central_nervous_system(1)|skin(1) 6 ACGATGGAGCGCCGCAGGTGG 0.632 ATF7IP2 80063 broad.mit.edu 37 16 10575765 10575765 + Missense_Mutation SNP A A C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:10575765A>C uc002czu.2 + 12 1935 c.1708A>C c.(1708-1710)ACC>CCC p.T570P ATF7IP2_uc002czv.2_3'UTR|ATF7IP2_uc010uyo.1_RNA|ATF7IP2_uc010uyp.1_Missense_Mutation_p.T114P|ATF7IP2_uc002czw.2_Missense_Mutation_p.T570P|ATF7IP2_uc010uyq.1_RNA NM_024997 NP_079273 Q5U623 MCAF2_HUMAN activating transcription factor 7 interacting 570 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 AGTAGACAAAACCCGAGACAC 0.458 ZC3H7A 29066 broad.mit.edu 37 16 11868230 11868230 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:11868230C>T uc002dbk.2 - 8 963 c.765G>A c.(763-765)CTG>CTA p.L255L ZC3H7A_uc002dbl.2_Silent_p.L255L|ZC3H7A_uc002dbm.1_Silent_p.L255L NM_014153 NP_054872 Q8IWR0 Z3H7A_HUMAN zinc finger CCCH-type containing 7A 255 nucleus nucleic acid binding|zinc ion binding ovary(2)|pancreas(1)|skin(1) 4 CTGCAGATGGCAGAGCGCTCT 0.478 PARN 5073 broad.mit.edu 37 16 14540788 14540788 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:14540788C>A uc010uzd.1 - 23 1963 c.1821G>T c.(1819-1821)AAG>AAT p.K607N PARN_uc010uzc.1_Missense_Mutation_p.K546N|PARN_uc010uze.1_Missense_Mutation_p.K561N|PARN_uc010uzf.1_Missense_Mutation_p.K432N NM_002582 NP_002573 O95453 PARN_HUMAN poly(A)-specific ribonuclease (deadenylation 607 female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification cytosol|nucleolus metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding ovary(2) 2 ATTTCTTGGCCTTTTTCCTTC 0.498 C16orf62 57020 broad.mit.edu 37 16 19710946 19710946 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:19710946C>T uc002dgn.1 + 30 2781 c.2769C>T c.(2767-2769)CAC>CAT p.H923H C16orf62_uc002dgo.1_Silent_p.H830H|C16orf62_uc002dgp.1_Silent_p.H672H NM_020314 NP_064710 Q7Z3J2 CP062_HUMAN hypothetical protein LOC57020 923 integral to membrane ovary(1) 1 CACAGAGGCACGGCTGTGCAG 0.597 PDILT 204474 broad.mit.edu 37 16 20373737 20373737 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:20373737C>T uc002dhc.1 - 10 1628 c.1405G>A c.(1405-1407)GGC>AGC p.G469S NM_174924 NP_777584 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis 469 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity large_intestine(1) 1 TGTTGAGAGCCGCTGGGGAAC 0.488 IGSF6 10261 broad.mit.edu 37 16 21663892 21663892 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:21663892C>T uc002djg.1 - 1 81 c.28G>A c.(28-30)GCT>ACT p.A10T uc002diq.3_Intron|METTL9_uc002dje.2_Intron|METTL9_uc002djf.2_Intron|IGSF6_uc010vbi.1_Missense_Mutation_p.A10T NM_005849 NP_005840 O95976 IGSF6_HUMAN immunoglobulin superfamily, member 6 precursor 10 cell surface receptor linked signaling pathway|immune response integral to plasma membrane transmembrane receptor activity 0 GBM - Glioblastoma multiforme(48;0.066) AGATGGCGAGCGATGTTGCTT 0.423 TNRC6A 27327 broad.mit.edu 37 16 24817959 24817959 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:24817959T>C uc002dmm.2 + 17 4508 c.4394T>C c.(4393-4395)TTG>TCG p.L1465S TNRC6A_uc010bxs.2_Missense_Mutation_p.L1212S|TNRC6A_uc002dmn.2_Missense_Mutation_p.L1163S|TNRC6A_uc002dmo.2_Missense_Mutation_p.L1104S|TNRC6A_uc002dmp.2_Missense_Mutation_p.L66S|TNRC6A_uc002dmq.2_Missense_Mutation_p.L132S NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1465 negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) CCAAACCTGTTGGTGAAGCAG 0.473 GTF3C1 2975 broad.mit.edu 37 16 27475926 27475926 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:27475926G>A uc002dov.1 - 34 5627 c.5587C>T c.(5587-5589)CGC>TGC p.R1863C GTF3C1_uc002dou.2_Missense_Mutation_p.R1863C NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1863 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 CAGCTGGCGCGCCTCTTGGTG 0.687 ATXN2L 11273 broad.mit.edu 37 16 28846629 28846629 + Missense_Mutation SNP C C G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:28846629C>G uc002drc.2 + 20 2762 c.2594C>G c.(2593-2595)GCC>GGC p.A865G uc010vct.1_Intron|ATXN2L_uc002drb.2_Missense_Mutation_p.A865G|ATXN2L_uc002dqy.2_Missense_Mutation_p.A865G|ATXN2L_uc002dra.2_Missense_Mutation_p.A865G|ATXN2L_uc002dqz.2_Missense_Mutation_p.A865G|ATXN2L_uc010vdb.1_Missense_Mutation_p.A871G|ATXN2L_uc002dre.2_Missense_Mutation_p.A865G|ATXN2L_uc002drf.2_Missense_Mutation_p.A274G|ATXN2L_uc002drg.2_Missense_Mutation_p.A147G NM_007245 NP_009176 Q8WWM7 ATX2L_HUMAN ataxin 2 related protein isoform A 865 membrane upper_aerodigestive_tract(1)|ovary(1) 2 CCACACCATGCCACACAGCTC 0.657 SH2B1 25970 broad.mit.edu 37 16 28878130 28878130 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:28878130G>A uc002dri.2 + 4 1154 c.715G>A c.(715-717)GCC>ACC p.A239T uc010vct.1_Intron|SH2B1_uc010vdc.1_Intron|SH2B1_uc002drj.2_Missense_Mutation_p.A239T|SH2B1_uc002drk.2_Missense_Mutation_p.A239T|SH2B1_uc002drl.2_Missense_Mutation_p.A239T|SH2B1_uc010vdd.1_Intron|SH2B1_uc010vde.1_Missense_Mutation_p.A239T|SH2B1_uc002drm.2_Missense_Mutation_p.A239T NM_001145795 NP_001139267 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 isoform 1 239 Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Required for NGF signaling (By similarity). blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity ovary(2) 2 GGGAGGGGGCGCCTTGAAGGA 0.642 RABEP2 79874 broad.mit.edu 37 16 28925566 28925566 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:28925566C>T uc002drq.2 - 5 933 c.885G>A c.(883-885)CTG>CTA p.L295L uc010vct.1_Intron|RABEP2_uc010vdf.1_Silent_p.L224L|RABEP2_uc010byn.2_Silent_p.L295L|RABEP2_uc002drr.2_Silent_p.L295L NM_024816 NP_079092 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 295 Potential. endocytosis|protein transport early endosome growth factor activity|GTPase activator activity ovary(1)|breast(1)|skin(1) 3 CCTCTGTCTGCAGCTGCTCCC 0.637 NFATC2IP 84901 broad.mit.edu 37 16 28970351 28970351 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:28970351C>T uc002dru.2 + 7 1046 c.1031C>T c.(1030-1032)ACG>ATG p.T344M uc010vct.1_Intron|NFATC2IP_uc002drt.2_Missense_Mutation_p.T65M|NFATC2IP_uc002drv.2_Missense_Mutation_p.T63M|NFATC2IP_uc010vdh.1_Missense_Mutation_p.T52M NM_032815 NP_116204 Q8NCF5 NF2IP_HUMAN nuclear factor of activated T-cells, 344 cytoplasm|nucleus ovary(1) 1 GCCACAGAGACGTCCCAACAG 0.592 ITGAL 3683 broad.mit.edu 37 16 30507880 30507880 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:30507880G>A uc002dyi.3 + 15 2001 c.1825G>A c.(1825-1827)GTG>ATG p.V609M ITGAL_uc002dyj.3_Missense_Mutation_p.V526M|ITGAL_uc010vev.1_Intron NM_002209 NP_002200 P20701 ITAL_HUMAN integrin alpha L isoform a precursor 609 FG-GAP 7.|Extracellular (Potential). blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity ovary(3)|lung(3)|central_nervous_system(3)|breast(1) 10 Efalizumab(DB00095) CCAGATGATCGTGCTGAGGTG 0.453 SRCAP 10847 broad.mit.edu 37 16 30732518 30732518 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:30732518T>C uc002dze.1 + 21 3647 c.3262T>C c.(3262-3264)TCC>CCC p.S1088P SRCAP_uc002dzf.2_Intron|SRCAP_uc002dzg.1_Missense_Mutation_p.S945P|SRCAP_uc010bzz.1_Missense_Mutation_p.S658P NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 1088 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) AGTGTTGCCATCCCCCCTGGG 0.592 SRCAP 10847 broad.mit.edu 37 16 30744953 30744953 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:30744953C>T uc002dze.1 + 29 6713 c.6328C>T c.(6328-6330)CGC>TGC p.R2110C SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.R1905C NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 2110 Helicase C-terminal. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) TGCAGACAAACGCATATTCTG 0.478 ZNF646 9726 broad.mit.edu 37 16 31088883 31088883 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:31088883C>T uc002eap.2 + 2 1527 c.1238C>T c.(1237-1239)GCG>GTG p.A413V NM_014699 NP_055514 O15015 ZN646_HUMAN zinc finger protein 646 413 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(2) 2 CTGTTCAATGCGGCTGCCCTC 0.587 ITGAX 3687 broad.mit.edu 37 16 31371765 31371765 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:31371765T>C uc002ebu.1 + 8 909 c.842T>C c.(841-843)ATC>ACC p.I281T ITGAX_uc002ebt.2_Missense_Mutation_p.I281T|ITGAX_uc010vfk.1_5'Flank NM_000887 NP_000878 P20702 ITAX_HUMAN integrin alpha X precursor 281 VWFA.|Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 GCAGCAGGCATCATCCGCTAT 0.502 ITGAX 3687 broad.mit.edu 37 16 31391664 31391664 + Silent SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:31391664C>A uc002ebu.1 + 27 3205 c.3138C>A c.(3136-3138)ACC>ACA p.T1046T ITGAX_uc002ebt.2_Silent_p.T1046T NM_000887 NP_000878 P20702 ITAX_HUMAN integrin alpha X precursor 1046 Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 TGGATTTCACCCTGAAGGGCA 0.632 ORC6L 23594 broad.mit.edu 37 16 46731427 46731427 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:46731427A>G uc002eeh.2 + 7 749 c.689A>G c.(688-690)CAG>CGG p.Q230R NM_014321 NP_055136 Q9Y5N6 ORC6_HUMAN origin recognition complex subunit 6 230 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA binding|protein binding 0 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) GATCTGACACAGGATTATGAA 0.363 ABCC12 94160 broad.mit.edu 37 16 48119514 48119514 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:48119514C>T uc002efc.1 - 27 4164 c.3818G>A c.(3817-3819)CGT>CAT p.R1273H ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA NM_033226 NP_150229 Q96J65 MRP9_HUMAN ATP-binding cassette protein C12 1273 ABC transporter 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 all_cancers(37;0.0474)|all_lung(18;0.047) CTTTGAATTACGGAGAAGAGC 0.453 ABCC12 94160 broad.mit.edu 37 16 48120729 48120729 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:48120729A>G uc002efc.1 - 26 3983 c.3637T>C c.(3637-3639)TAC>CAC p.Y1213H ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_Intron|ABCC12_uc002efa.1_Intron|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_Intron NM_033226 NP_150229 Q96J65 MRP9_HUMAN ATP-binding cassette protein C12 1213 ABC transporter 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 all_cancers(37;0.0474)|all_lung(18;0.047) TCCAAGTTGTACCTGCAATGA 0.532 CBLN1 869 broad.mit.edu 37 16 49315194 49315194 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:49315194C>A uc002efq.2 - 1 522 c.183G>T c.(181-183)AAG>AAT p.K61N NM_004352 NP_004343 P23435 CBLN1_HUMAN cerebellin 1 precursor 61 C1q. nervous system development|synaptic transmission cell junction|extracellular region|synapse 0 all_cancers(37;0.0766)|all_lung(18;0.24) AGAAAGCCACCTTGGCGCTGC 0.617 CYLD 1540 broad.mit.edu 37 16 50815288 50815288 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:50815288G>A uc002egp.1 + 10 2065 c.1650G>A c.(1648-1650)CCG>CCA p.P550P CYLD_uc002ego.2_Silent_p.P547P|CYLD_uc010cbs.1_Silent_p.P547P|CYLD_uc002egq.1_Silent_p.P547P|CYLD_uc002egr.1_Silent_p.P547P|CYLD_uc002egs.1_Silent_p.P547P NM_015247 NP_056062 Q9NQC7 CYLD_HUMAN ubiquitin carboxyl-terminal hydrolase CYLD 550 Interaction with TRIP.|Interaction with IKBKG/NEMO. cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3) 28 all_cancers(37;0.0156) CATTGCAGCCGGTTTCCAATC 0.438 Mis|N|F|S cylindroma cylindroma Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial RPGRIP1L 23322 broad.mit.edu 37 16 53682940 53682940 + Missense_Mutation SNP C C T rs142349647 byFrequency TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:53682940C>T uc002ehp.2 - 16 2304 c.2240G>A c.(2239-2241)CGA>CAA p.R747Q RPGRIP1L_uc002eho.3_Missense_Mutation_p.R747Q|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.R747Q|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.R747Q|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.R747Q NM_015272 NP_056087 Q68CZ1 FTM_HUMAN RPGRIP1-like isoform a 747 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding ovary(1) 1 all_cancers(37;0.0973) TGCCCTTTCTCGATAAAGTCG 0.408 IRX3 79191 broad.mit.edu 37 16 54318212 54318212 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:54318212G>A uc002eht.1 - 3 1813 c.1397C>T c.(1396-1398)GCC>GTC p.A466V NM_024336 NP_077312 P78415 IRX3_HUMAN iroquois homeobox 3 466 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CACTTCCAAGGCACTACAGCG 0.622 NLRC5 84166 broad.mit.edu 37 16 57060011 57060011 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:57060011C>T uc002ekk.1 + 6 1381 c.1156C>T c.(1156-1158)CGG>TGG p.R386W NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.R191W|NLRC5_uc002ekl.2_Missense_Mutation_p.R191W|NLRC5_uc002ekm.2_Missense_Mutation_p.R191W|NLRC5_uc010ccr.1_RNA NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN nucleotide-binding oligomerization domains 27 386 NACHT. defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding ovary(4)|skin(2)|breast(1) 7 all_neural(199;0.225) CCAGCCATCGCGGGAGGGGGC 0.552 NLRC5 84166 broad.mit.edu 37 16 57060522 57060522 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:57060522G>A uc002ekk.1 + 6 1892 c.1667G>A c.(1666-1668)GGC>GAC p.G556D NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.G361D|NLRC5_uc002ekl.2_Missense_Mutation_p.G361D|NLRC5_uc002ekm.2_Missense_Mutation_p.G361D|NLRC5_uc010ccr.1_RNA NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN nucleotide-binding oligomerization domains 27 556 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding ovary(4)|skin(2)|breast(1) 7 all_neural(199;0.225) GCTAGACTGGGCCTCTCAGAC 0.622 CPNE2 221184 broad.mit.edu 37 16 57181521 57181521 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:57181521A>G uc002eks.1 + 16 1827 c.1598A>G c.(1597-1599)CAG>CGG p.Q533R CPNE2_uc010cct.1_Missense_Mutation_p.Q559R|CPNE2_uc010ccu.1_Missense_Mutation_p.Q533R|CPNE2_uc002ekt.1_3'UTR NM_152727 NP_689940 Q96FN4 CPNE2_HUMAN copine II 533 central_nervous_system(1)|skin(1) 2 all_neural(199;0.224) CAAGTTGTGCAGTATTTCAAG 0.602 CCDC135 84229 broad.mit.edu 37 16 57760011 57760011 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:57760011C>T uc002emi.2 + 13 1879 c.1790C>T c.(1789-1791)GCG>GTG p.A597V CCDC135_uc002emj.2_Missense_Mutation_p.A597V|CCDC135_uc002emk.2_Missense_Mutation_p.A532V NM_032269 NP_115645 Q8IY82 CC135_HUMAN coiled-coil domain containing 135 597 cytoplasm central_nervous_system(1) 1 CGCAACCCAGCGAAGCCCGCG 0.607 PRSS54 221191 broad.mit.edu 37 16 58324964 58324964 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:58324964C>T uc002enf.2 - 4 557 c.162G>A c.(160-162)CCG>CCA p.P54P PRSS54_uc002eng.2_Silent_p.P54P|PRSS54_uc010vie.1_Intron NM_001080492 NP_001073961 Q6PEW0 PRS54_HUMAN plasma kallikrein-like protein 4 precursor 54 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 ACACCACCCACGGGAACTCCA 0.607 CNOT1 23019 broad.mit.edu 37 16 58581500 58581500 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:58581500T>C uc002env.2 - 26 3902 c.3609A>G c.(3607-3609)ACA>ACG p.T1203T CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Silent_p.T1198T|CNOT1_uc002enx.2_Silent_p.T1203T|CNOT1_uc010vik.1_Intron NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 1203 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) TTTTAGCTAATGTGATCATTC 0.378 CNOT1 23019 broad.mit.edu 37 16 58581512 58581512 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:58581512T>C uc002env.2 - 26 3890 c.3597A>G c.(3595-3597)CTA>CTG p.L1199L CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Silent_p.L1194L|CNOT1_uc002enx.2_Silent_p.L1199L|CNOT1_uc010vik.1_Intron NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 1199 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) TGATCATTCCTAGCCAATGTC 0.368 CDH5 1003 broad.mit.edu 37 16 66436800 66436800 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:66436800G>A uc002eom.3 + 12 2239 c.2083G>A c.(2083-2085)GCG>ACG p.A695T NM_001795 NP_001786 P33151 CADH5_HUMAN cadherin 5, type 2 preproprotein 695 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding ovary(2)|lung(2)|central_nervous_system(1)|skin(1) 6 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) ACCGAGGCACGCGCCTGGGGC 0.572 NAE1 8883 broad.mit.edu 37 16 66847501 66847501 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:66847501C>T uc002eqf.2 - 13 1077 c.1000G>A c.(1000-1002)GCA>ACA p.A334T NAE1_uc002eqe.2_Missense_Mutation_p.A328T|NAE1_uc002eqg.2_Missense_Mutation_p.A245T|NAE1_uc010cdv.2_Missense_Mutation_p.A337T NM_003905 NP_003896 Q13564 ULA1_HUMAN NEDD8 activating enzyme E1 subunit 1 isoform a 334 Interaction with UBA3. apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction cytoplasm|insoluble fraction|plasma membrane catalytic activity|protein heterodimerization activity ovary(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214) Adenosine triphosphate(DB00171) CCTGAATCTGCAATCATATCA 0.343 FHOD1 29109 broad.mit.edu 37 16 67268086 67268086 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:67268086G>A uc002esl.2 - 13 1632 c.1520C>T c.(1519-1521)GCC>GTC p.A507V FHOD1_uc010ced.2_Missense_Mutation_p.A314V|FHOD1_uc010vjh.1_Missense_Mutation_p.A167V NM_013241 NP_037373 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 507 FH1. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(2)|ovary(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) GCTTCGCTGGGCCCGGAGCAG 0.647 CDH1 999 broad.mit.edu 37 16 68835713 68835713 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:68835713G>A uc002ewg.1 + 3 428 c.304G>A c.(304-306)GCC>ACC p.A102T CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.A102T NM_004360 NP_004351 P12830 CADH1_HUMAN cadherin 1, type 1 preproprotein 102 adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1) 243 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) CTTGGTCTACGCCTGGGACTC 0.512 Mis|N|F|S lobular breast|gastric gastric Hereditary_Diffuse_Gastric_Cancer ZNF19 7567 broad.mit.edu 37 16 71509780 71509780 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:71509780G>A uc010cgc.1 - 6 1176 c.670C>T c.(670-672)CGA>TGA p.R224* ZNF23_uc002fai.2_Intron|ZNF19_uc002fak.1_Nonsense_Mutation_p.R212*|ZNF19_uc002fal.1_Nonsense_Mutation_p.R212*|ZNF19_uc002fam.1_Nonsense_Mutation_p.R224* NM_006961 NP_008892 P17023 ZNF19_HUMAN zinc finger protein 19 224 C2H2-type 3. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Ovarian(137;0.00965) BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598) TTAAAGGCTCGCCCACACTCC 0.458 ZFHX3 463 broad.mit.edu 37 16 72830135 72830135 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:72830135C>T uc002fck.2 - 9 7119 c.6446G>A c.(6445-6447)CGC>CAC p.R2149H ZFHX3_uc002fcl.2_Missense_Mutation_p.R1235H NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 2149 Homeobox 1. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) GATCCTGGTGCGAGGCCTCTT 0.547 ZFHX3 463 broad.mit.edu 37 16 72984509 72984509 + Silent SNP G G A rs137984545 by1000genomes TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:72984509G>A uc002fck.2 - 3 3748 c.3075C>T c.(3073-3075)AAC>AAT p.N1025N ZFHX3_uc002fcl.2_Silent_p.N111N NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 1025 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) GCCTCCACTCGTTGGCCTTGC 0.597 ZFHX3 463 broad.mit.edu 37 16 72993351 72993351 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:72993351G>A uc002fck.2 - 2 1367 c.694C>T c.(694-696)CGC>TGC p.R232C ZFHX3_uc002fcl.2_Intron NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 232 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) TCAAACACGCGGAAGCTGTGC 0.557 CHST5 23563 broad.mit.edu 37 16 75563418 75563418 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:75563418G>A uc002fei.2 - 3 2260 c.865C>T c.(865-867)CGC>TGC p.R289C CHST5_uc002fej.1_Missense_Mutation_p.R295C NM_024533 NP_078809 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) 289 Lumenal (Potential). N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity 0 AGGCGGTAGCGGCCGCGCAGG 0.716 KARS 3735 broad.mit.edu 37 16 75669691 75669691 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:75669691G>A uc002feq.2 - 6 730 c.682C>T c.(682-684)CGC>TGC p.R228C KARS_uc002fer.2_Missense_Mutation_p.R256C|KARS_uc002fes.2_Missense_Mutation_p.R72C|KARS_uc010cgz.2_Missense_Mutation_p.R72C NM_005548 NP_005539 Q15046 SYK_HUMAN lysyl-tRNA synthetase isoform 2 228 interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding ovary(2) 2 L-Lysine(DB00123) TATCTCTGGCGATACCTTGTT 0.393 ADAMTS18 170692 broad.mit.edu 37 16 77369762 77369762 + Missense_Mutation SNP C C T rs149189203 byFrequency TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:77369762C>T uc002ffc.3 - 12 2169 c.1750G>A c.(1750-1752)GGG>AGG p.G584R ADAMTS18_uc010chc.1_Missense_Mutation_p.G172R|ADAMTS18_uc002ffe.1_Missense_Mutation_p.G280R NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 584 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 GGCCGGGGCCCGAGCTCCCCA 0.587 OSGIN1 29948 broad.mit.edu 37 16 83994222 83994222 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:83994222G>A uc002fha.2 + 5 885 c.502G>A c.(502-504)GTG>ATG p.V168M OSGIN1_uc002fhb.2_Missense_Mutation_p.V85M|OSGIN1_uc002fhc.2_Missense_Mutation_p.V85M NM_013370 NP_037502 Q9UJX0 OSGI1_HUMAN oxidative stress induced growth inhibitor 1 168 cell differentiation|multicellular organismal development|negative regulation of cell growth growth factor activity 0 CCAAAGCCCCGTGGCCCTGCT 0.632 MBTPS1 8720 broad.mit.edu 37 16 84088130 84088130 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:84088130G>A uc002fhi.2 - 23 3585 c.3083C>T c.(3082-3084)CCG>CTG p.P1028L MBTPS1_uc002fhh.2_Missense_Mutation_p.P532L NM_003791 NP_003782 Q14703 MBTP1_HUMAN membrane-bound transcription factor site-1 1028 Arg/Lys/Pro-rich (basic).|Cytoplasmic (Potential). cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity ovary(2) 2 CCTCCGCTTCGGCCTGCTCTT 0.617 MBTPS1 8720 broad.mit.edu 37 16 84100196 84100196 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:84100196C>T uc002fhi.2 - 17 2753 c.2251G>A c.(2251-2253)GGA>AGA p.G751R MBTPS1_uc002fhh.2_Missense_Mutation_p.G255R NM_003791 NP_003782 Q14703 MBTP1_HUMAN membrane-bound transcription factor site-1 751 Lumenal (Potential). cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity ovary(2) 2 TTAGCTCCTCCGGTATCCGGC 0.517 FOXF1 2294 broad.mit.edu 37 16 86544392 86544392 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:86544392G>A uc002fjl.2 + 1 260 c.217G>A c.(217-219)GAG>AAG p.E73K uc002fjk.1_5'Flank NM_001451 NP_001442 Q12946 FOXF1_HUMAN forkhead box F1 73 Fork-head. branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development transcription factor complex DNA bending activity|double-stranded DNA 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 factor binding 0 GACGCTGAGCGAGATCTACCA 0.627 ANKRD11 29123 broad.mit.edu 37 16 89351372 89351372 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:89351372G>A uc002fmx.1 - 9 2039 c.1578C>T c.(1576-1578)CAC>CAT p.H526H ANKRD11_uc002fmy.1_Silent_p.H526H|ANKRD11_uc002fnc.1_Silent_p.H526H|ANKRD11_uc002fnb.1_Silent_p.H483H NM_013275 NP_037407 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 526 Ser-rich. nucleus ovary(4)|large_intestine(1)|central_nervous_system(1) 6 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) CAGAGCTCCCGTGAGACGAGG 0.627 CAMKK1 84254 broad.mit.edu 37 17 3786397 3786397 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:3786397A>G uc002fwt.2 - 6 681 c.587T>C c.(586-588)GTG>GCG p.V196A CAMKK1_uc002fwu.2_Missense_Mutation_p.V196A|CAMKK1_uc002fwv.2_Missense_Mutation_p.V196A NM_172206 NP_757343 Q8N5S9 KKCC1_HUMAN calcium/calmodulin-dependent protein kinase 1 196 Protein kinase. synaptic transmission cytosol|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(1) 1 LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176) CTCCTGGTACACCCGCTCCAG 0.617 ZZEF1 23140 broad.mit.edu 37 17 3926101 3926101 + Missense_Mutation SNP G G A rs149535137 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:3926101G>A uc002fxe.2 - 44 7178 c.7114C>T c.(7114-7116)CGT>TGT p.R2372C ZZEF1_uc002fxh.2_Missense_Mutation_p.R686C|ZZEF1_uc002fxi.2_Missense_Mutation_p.R607C NM_015113 NP_055928 O43149 ZZEF1_HUMAN zinc finger, ZZ type with EF hand domain 1 2372 calcium ion binding|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 AAAGTAGCACGGATCTCCTCA 0.483 MYBBP1A 10514 broad.mit.edu 37 17 4448573 4448573 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:4448573C>T uc002fyb.3 - 16 2203 c.2141G>A c.(2140-2142)CGG>CAG p.R714Q MYBBP1A_uc002fxz.3_Missense_Mutation_p.R714Q|MYBBP1A_uc002fya.3_5'Flank|MYBBP1A_uc010vsa.1_5'Flank NM_014520 NP_055335 Q9BQG0 MBB1A_HUMAN MYB binding protein 1a isoform 2 714 nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NLS-dependent protein nuclear import complex|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding ovary(1)|skin(1) 2 CTTCAGCCGCCGCTCATCAGA 0.657 USP6 9098 broad.mit.edu 37 17 5041042 5041042 + Nonsense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:5041042C>T uc002gau.1 + 20 3152 c.922C>T c.(922-924)CAG>TAG p.Q308* USP6_uc002gav.1_Nonsense_Mutation_p.Q308*|USP6_uc010ckz.1_5'UTR|uc002gbd.2_5'Flank NM_004505 NP_004496 P35125 UBP6_HUMAN ubiquitin specific protease 6 308 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1) 5 TAAGGTTCAGCAGAGTAAGTC 0.572 T COL1A1|CDH11|ZNF9|OMD aneurysmal bone cysts CLEC10A 10462 broad.mit.edu 37 17 6978516 6978516 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:6978516C>T uc002gek.2 - 9 1111 c.808G>A c.(808-810)GAC>AAC p.D270N CLEC10A_uc002gej.2_Missense_Mutation_p.D246N|CLEC10A_uc002gel.2_Missense_Mutation_p.D243N|CLEC10A_uc010clv.1_3'UTR NM_182906 NP_878910 Q8IUN9 CLC10_HUMAN C-type lectin, superfamily member 14 isoform 1 270 C-type lectin.|Extracellular (Potential). endocytosis|innate immune response integral to membrane|plasma membrane sugar binding 0 CCCTGCCAGTCGTCTGGCTGG 0.597 DLG4 1742 broad.mit.edu 37 17 7106649 7106649 + Splice_Site SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:7106649C>T uc002get.3 - 9 1836 c.635_splice c.e9-1 p.G212_splice DLG4_uc010vtm.1_Splice_Site|DLG4_uc010vtn.1_Splice_Site_p.G109_splice|DLG4_uc010cly.2_Splice_Site_p.G166_splice|DLG4_uc010vto.1_Splice_Site_p.G209_splice|DLG4_uc002geu.2_Splice_Site_p.G166_splice NM_001365 NP_001356 P78352 DLG4_HUMAN post-synaptic density protein 95 isoform 1 axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding ovary(1)|breast(1) 2 AAGCCAAGACCTGGATGGAGG 0.562 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 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) CHD3 1107 broad.mit.edu 37 17 7810789 7810789 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:7810789G>T uc002gje.2 + 32 5057 c.4907G>T c.(4906-4908)GGG>GTG p.G1636V CHD3_uc002gjd.2_Missense_Mutation_p.G1695V|CHD3_uc002gjf.2_Missense_Mutation_p.G1636V|CHD3_uc002gjh.2_Missense_Mutation_p.G212V|CHD3_uc002gjj.2_5'Flank NM_001005273 NP_001005273 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 1636 Required for interaction with PCNT. 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) GGGTACCGTGGGGACAGAGAG 0.577 ALOX12B 242 broad.mit.edu 37 17 7978911 7978911 + Splice_Site SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:7978911A>G uc002gjy.1 - 12 1915 c.1654_splice c.e12+1 p.G552_splice NM_001139 NP_001130 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity 0 CCAGGCCCATACCTGAGCTCT 0.587 Multiple Myeloma(8;0.094) TMEM107 84314 broad.mit.edu 37 17 8077915 8077915 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:8077915A>G uc002gkg.3 - 4 386 c.276T>C c.(274-276)AGT>AGC p.S92S TMEM107_uc002gkh.3_Silent_p.S98S|TMEM107_uc002gki.3_Silent_p.S98S|TMEM107_uc002gkj.3_Intron|TMEM107_uc002gkk.2_3'UTR NM_183065 NP_898888 Q6UX40 TM107_HUMAN transmembrane protein 107 isoform 2 92 Helical; (Potential). integral to membrane 0 CCACGGATGCACTACAGTGAG 0.507 MYH10 4628 broad.mit.edu 37 17 8393780 8393780 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:8393780C>T uc002gll.2 - 33 4765 c.4669G>A c.(4669-4671)GCC>ACC p.A1557T MYH10_uc002glm.2_Missense_Mutation_p.A1588T|MYH10_uc010cnx.2_Missense_Mutation_p.A1566T NM_005964 NP_005955 P35580 MYH10_HUMAN myosin, heavy polypeptide 10, non-muscle 1557 Potential. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity ovary(2) 2 TCTTCCGTGGCCTGGAGTTCG 0.542 WDR16 146845 broad.mit.edu 37 17 9515631 9515631 + Missense_Mutation SNP T T A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:9515631T>A uc002gly.2 + 8 929 c.860T>A c.(859-861)ATT>AAT p.I287N WDR16_uc002glz.2_Missense_Mutation_p.I219N|WDR16_uc010coc.2_Missense_Mutation_p.I297N NM_145054 NP_659491 Q8N1V2 WDR16_HUMAN WD40-repeat protein upregulated in HCC isoform 287 cytoplasm|intracellular membrane-bounded organelle protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 TAAAGGAAGATTCAGTTACAA 0.428 MYH8 4626 broad.mit.edu 37 17 10303844 10303844 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:10303844C>T uc002gmm.2 - 27 3693 c.3598G>A c.(3598-3600)GCA>ACA p.A1200T uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1200 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 ATACTGTCTGCGTGCTTCTTC 0.547 Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling MYH4 4622 broad.mit.edu 37 17 10355428 10355428 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:10355428C>T uc002gmn.2 - 27 3679 c.3568G>A c.(3568-3570)GAA>AAA p.E1190K uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 1190 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 GCCGTGGCTTCGTGCTGCAGG 0.582 DNAH9 1770 broad.mit.edu 37 17 11713626 11713626 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:11713626A>G uc002gne.2 + 45 8715 c.8647A>G c.(8647-8649)ACT>GCT p.T2883A DNAH9_uc010coo.2_Missense_Mutation_p.T2177A NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 2883 AAA 4 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GTTTCTCATGACTGATGCCCA 0.448 LLGL1 3996 broad.mit.edu 37 17 18140896 18140896 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:18140896C>T uc002gsp.2 + 14 1774 c.1713C>T c.(1711-1713)CAC>CAT p.H571H NM_004140 NP_004131 Q15334 L2GL1_HUMAN lethal giant larvae homolog 1 571 WD 9. cortical actin cytoskeleton organization|exocytosis|protein complex assembly cortical actin cytoskeleton protein kinase binding|structural molecule activity breast(2)|skin(2)|ovary(1)|haematopoietic_and_lymphoid_tissue(1) 6 all_neural(463;0.228) GGAAGGGCCACGAGCGGCTGA 0.672 LLGL1 3996 broad.mit.edu 37 17 18140961 18140961 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:18140961T>C uc002gsp.2 + 14 1839 c.1778T>C c.(1777-1779)GTG>GCG p.V593A NM_004140 NP_004131 Q15334 L2GL1_HUMAN lethal giant larvae homolog 1 593 WD 9. cortical actin cytoskeleton organization|exocytosis|protein complex assembly cortical actin cytoskeleton protein kinase binding|structural molecule activity breast(2)|skin(2)|ovary(1)|haematopoietic_and_lymphoid_tissue(1) 6 all_neural(463;0.228) CGTGTCCTGGTGCAGTGCCTG 0.667 FBXW10 10517 broad.mit.edu 37 17 18675757 18675757 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:18675757T>C uc002guk.2 + 12 2271 c.2039T>C c.(2038-2040)ATG>ACG p.M680T FBXW10_uc002guj.2_Missense_Mutation_p.M680T|FBXW10_uc002gul.2_Missense_Mutation_p.M709T|FBXW10_uc010cqh.1_Missense_Mutation_p.M627T NM_031456 NP_113644 Q5XX13 FBW10_HUMAN F-box and WD-40 domain protein 10 680 ovary(1) 1 AATGTTCTCATGTTCCAGTTT 0.353 ALDOC 230 broad.mit.edu 37 17 26902512 26902512 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:26902512C>T uc002hbp.2 - 2 184 c.39G>A c.(37-39)AAG>AAA p.K13K ALDOC_uc010cro.2_Silent_p.K13K NM_005165 NP_005156 P09972 ALDOC_HUMAN fructose-bisphosphate aldolase C 13 fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis cytosol cytoskeletal protein binding|fructose-bisphosphate aldolase activity ovary(1) 1 Lung NSC(42;0.00431) ACAACTCCTTCTTCTGCTCAG 0.552 OREG0024278 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) KIAA0100 9703 broad.mit.edu 37 17 26958520 26958520 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:26958520G>A uc002hbu.2 - 23 4375 c.4276C>T c.(4276-4278)CAT>TAT p.H1426Y NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 1426 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) CGATTGCTATGCCGTTGGTAG 0.408 FLOT2 2319 broad.mit.edu 37 17 27209367 27209367 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:27209367G>A uc002hdc.2 - 6 690 c.567C>T c.(565-567)GAC>GAT p.D189D NM_004475 NP_004466 Q14254 FLOT2_HUMAN flotillin 2 189 cell adhesion|epidermis development cell surface|endocytic vesicle|endosome|membrane fraction 0 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602) GGATGCCTGCGTCCCGTTCAG 0.582 NF1 4763 broad.mit.edu 37 17 29556992 29556992 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:29556992G>T uc002hgg.2 + 22 3323 c.2990G>T c.(2989-2991)AGG>ATG p.R997M NF1_uc002hgh.2_Missense_Mutation_p.R997M|NF1_uc010csn.1_Missense_Mutation_p.R857M|NF1_uc002hgi.1_Missense_Mutation_p.R30M NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 997 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.?(2)|p.R997fs*16(1)|p.R997K(1) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AATCTGGTCAGGTAAGCATTC 0.353 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) TMEM132E 124842 broad.mit.edu 37 17 32956140 32956140 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:32956140G>T uc002hif.2 + 5 1313 c.985G>T c.(985-987)GGC>TGC p.G329C NM_207313 NP_997196 Q6IEE7 T132E_HUMAN transmembrane protein 132E precursor 329 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(366;0.231) CCGTGGCCACGGCGCCCTGCC 0.607 SLFN5 162394 broad.mit.edu 37 17 33586176 33586176 + Missense_Mutation SNP A A C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:33586176A>C uc002hjf.3 + 2 584 c.467A>C c.(466-468)CAG>CCG p.Q156P SLFN5_uc002hje.2_Missense_Mutation_p.Q156P|SLFN5_uc010wcg.1_Missense_Mutation_p.Q156P NM_144975 NP_659412 Q08AF3 SLFN5_HUMAN schlafen family member 5 156 cell differentiation ATP binding ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0191) TTAGGTCCACAGGCAGCTCAG 0.423 CCL15 6359 broad.mit.edu 37 17 34324855 34324855 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:34324855C>A uc010wcu.1 - 4 859 c.290G>T c.(289-291)AGT>ATT p.S97I CCL14-CCL15_uc010wcs.1_RNA|CCL14-CCL15_uc010wct.1_RNA NM_032965 NP_116741 Q16663 CCL15_HUMAN chemokine (C-C motif) ligand 15 precursor 97 cell-cell signaling|cellular calcium ion homeostasis|immune response extracellular space chemoattractant activity|chemokine activity|heparin binding|signal transducer activity ovary(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TCCCGGACCACTGGGTTTGGC 0.512 SYNRG 11276 broad.mit.edu 37 17 35902366 35902366 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:35902366C>T uc002hoa.2 - 15 2993 c.2910G>A c.(2908-2910)ACG>ACA p.T970T SYNRG_uc010wde.1_Silent_p.T892T|SYNRG_uc010wdf.1_Silent_p.T892T|SYNRG_uc002hoc.2_Silent_p.T891T|SYNRG_uc002hoe.2_Silent_p.T892T|SYNRG_uc002hod.2_Silent_p.T847T|SYNRG_uc010wdg.1_Silent_p.T764T|SYNRG_uc002hob.2_Silent_p.T970T|SYNRG_uc002hof.2_Silent_p.T636T NM_007247 NP_009178 Q9UMZ2 SYNRG_HUMAN synergin, gamma isoform 1 970 endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding ovary(2) 2 TCTGAGGAATCGTGTCTTTAA 0.458 C17orf98 388381 broad.mit.edu 37 17 36997563 36997563 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:36997563C>T uc002hqv.2 - 1 80 c.80G>A c.(79-81)CGC>CAC p.R27H NM_001080465 NP_001073934 A8MV24 CQ098_HUMAN hypothetical protein LOC388381 27 0 CCCATAAGCGCGGGCAGCGGT 0.632 NR1D1 9572 broad.mit.edu 37 17 38253490 38253490 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:38253490G>A uc002htz.1 - 2 824 c.198C>T c.(196-198)CGC>CGT p.R66R NR1D1_uc010cwq.1_RNA|NR1D1_uc010cwr.1_5'Flank NM_021724 NP_068370 P20393 NR1D1_HUMAN nuclear receptor subfamily 1, group D, member 1 66 cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding skin(1) 1 Colorectal(19;0.000442) TCCCAAAGGAGCGAGCCGGGT 0.463 KRT27 342574 broad.mit.edu 37 17 38936090 38936090 + Silent SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:38936090C>A uc002hvg.2 - 4 749 c.708G>T c.(706-708)GCG>GCT p.A236A NM_181537 NP_853515 Q7Z3Y8 K1C27_HUMAN keratin 27 236 Rod.|Linker 12. cytoplasm|intermediate filament structural molecule activity 0 Breast(137;0.000812) TGCCTCCAGCCGCGCACTGAA 0.433 KRT12 3859 broad.mit.edu 37 17 39021080 39021080 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:39021080T>C uc002hvk.2 - 3 809 c.785A>G c.(784-786)TAC>TGC p.Y262C NM_000223 NP_000214 Q99456 K1C12_HUMAN keratin 12 262 Rod.|Coil 1B. visual perception intermediate filament structural molecule activity ovary(1) 1 Breast(137;0.000301) CTTCTTCATGTAGGCCAGCTC 0.522 KRT17 3872 broad.mit.edu 37 17 39776936 39776936 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:39776936G>A uc002hxh.2 - 6 1277 c.1156C>T c.(1156-1158)CGC>TGC p.R386C JUP_uc010wfs.1_Intron NM_000422 NP_000413 Q04695 K1C17_HUMAN keratin 17 386 Coil 2.|Rod. epidermis development cytoplasm|intermediate filament protein binding|structural constituent of cytoskeleton ovary(1)|skin(1) 2 Breast(137;0.000307) TCCAGCAGGCGGCGGTAGGTG 0.627 Steatocystoma_Multiplex NAGLU 4669 broad.mit.edu 37 17 40695811 40695811 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:40695811G>A uc002hzv.2 + 6 2127 c.1787G>A c.(1786-1788)GGC>GAC p.G596D NM_000263 NP_000254 P54802 ANAG_HUMAN alpha-N-acetylglucosaminidase precursor 596 lysosome alpha-N-acetylglucosaminidase activity 0 all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) N-Acetyl-D-glucosamine(DB00141) AGGGCTGGAGGCGTCCTGGCC 0.642 HSD17B1 3292 broad.mit.edu 37 17 40706500 40706500 + Missense_Mutation SNP A A C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:40706500A>C uc002hzw.2 + 5 1585 c.617A>C c.(616-618)GAC>GCC p.D206A HSD17B1_uc002hzx.2_Missense_Mutation_p.D207A|HSD17B1_uc010wgm.1_RNA|uc002hzy.2_5'UTR|HSD17B1_uc010cyi.2_Missense_Mutation_p.D237A NM_000413 NP_000404 P14061 DHB1_HUMAN hydroxysteroid (17-beta) dehydrogenase 1 206 estrogen biosynthetic process cytosol binding|estradiol 17-beta-dehydrogenase activity 0 all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261) BRCA - Breast invasive adenocarcinoma(366;0.129) NADH(DB00157) GAGGTGCTGGACCGCACGGAC 0.632 PSMC3IP 29893 broad.mit.edu 37 17 40725006 40725006 + Missense_Mutation SNP C C T rs149230650 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:40725006C>T uc002iai.2 - 8 677 c.634G>A c.(634-636)GTC>ATC p.V212I MLX_uc002iaf.2_3'UTR|MLX_uc002iag.2_3'UTR|MLX_uc002iah.2_3'UTR|PSMC3IP_uc002iaj.2_Missense_Mutation_p.V149I|PSMC3IP_uc002iak.2_Missense_Mutation_p.V200I|PSMC3IP_uc010wgn.1_Missense_Mutation_p.V133I|PSMC3IP_uc010wgo.1_RNA|PSMC3IP_uc010wgp.1_RNA NM_016556 NP_057640 Q9P2W1 HOP2_HUMAN PSMC3 interacting protein isoform 2 212 DNA recombination|meiosis nucleus DNA binding upper_aerodigestive_tract(1)|skin(1) 2 all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395) BRCA - Breast invasive adenocarcinoma(366;0.13) GGGAGTGTGACGTTGTAATCT 0.522 AOC3 8639 broad.mit.edu 37 17 41003976 41003976 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:41003976C>T uc002ibv.2 + 1 776 c.616C>T c.(616-618)CGG>TGG p.R206W NM_003734 NP_003725 Q16853 AOC3_HUMAN amine oxidase, copper containing 3 precursor 206 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) GCACCGGGGACGGAACCTGGT 0.577 MPP2 4355 broad.mit.edu 37 17 41959879 41959879 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:41959879C>A uc010wip.1 - 6 646 c.589G>T c.(589-591)GGT>TGT p.G197C MPP2_uc002ien.1_Missense_Mutation_p.G169C|MPP2_uc010wim.1_Missense_Mutation_p.G141C|MPP2_uc002ieo.1_Missense_Mutation_p.G152C|MPP2_uc010win.1_Missense_Mutation_p.G13C|MPP2_uc010wio.1_Missense_Mutation_p.G141C|MPP2_uc010czm.1_Missense_Mutation_p.G135C NM_005374 NP_005365 Q14168 MPP2_HUMAN palmitoylated membrane protein 2 176 signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity 0 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) AACGTTACACCCTGGAGGTCA 0.567 MPP2 4355 broad.mit.edu 37 17 41975706 41975706 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:41975706G>A uc010wip.1 - 3 266 c.209C>T c.(208-210)GCC>GTC p.A70V MPP2_uc002ien.1_Missense_Mutation_p.A42V|MPP2_uc010wim.1_Missense_Mutation_p.A14V|MPP2_uc002ieo.1_Missense_Mutation_p.A25V|MPP2_uc010win.1_Intron|MPP2_uc010wio.1_Missense_Mutation_p.A14V|MPP2_uc010czm.1_Missense_Mutation_p.A14V NM_005374 NP_005365 Q14168 MPP2_HUMAN palmitoylated membrane protein 2 25 L27 1. signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity 0 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) AGCCCCCGTGGCACTGGGGAG 0.577 HDAC5 10014 broad.mit.edu 37 17 42170162 42170162 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:42170162A>G uc002ifd.1 - 7 865 c.654T>C c.(652-654)CAT>CAC p.H218H HDAC5_uc002ife.1_Silent_p.H218H|HDAC5_uc002iff.1_Silent_p.H219H|HDAC5_uc010czp.1_Silent_p.H218H|HDAC5_uc002ifh.2_Silent_p.H218H NM_005474 NP_005465 Q9UQL6 HDAC5_HUMAN histone deacetylase 5 isoform 1 218 B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent cytoplasm|histone deacetylase complex 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)|protein kinase C binding|repressing transcription factor binding ovary(1) 1 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.118) CCAAAGAAGCATGGTGGGCTC 0.612 GPATCH8 23131 broad.mit.edu 37 17 42475277 42475277 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:42475277C>T uc002igw.1 - 8 4232 c.4168G>A c.(4168-4170)GCC>ACC p.A1390T GPATCH8_uc002igv.1_Missense_Mutation_p.A1312T|GPATCH8_uc010wiz.1_Missense_Mutation_p.A1312T NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 1390 Poly-Ala. intracellular nucleic acid binding|zinc ion binding ovary(2)|kidney(1)|skin(1) 4 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) ATGCCGATGGCGGCAGCAGCT 0.577 NFE2L1 4779 broad.mit.edu 37 17 46136768 46136768 + Missense_Mutation SNP G G A rs144484468 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:46136768G>A uc002imz.3 + 6 2735 c.2084G>A c.(2083-2085)CGG>CAG p.R695Q NFE2L1_uc002ina.3_Missense_Mutation_p.R665Q|NFE2L1_uc002inb.3_Missense_Mutation_p.R665Q|NFE2L1_uc010wle.1_Missense_Mutation_p.R507Q|NFE2L1_uc010wlf.1_Missense_Mutation_p.R539Q NM_003204 NP_003195 Q14494 NF2L1_HUMAN nuclear factor erythroid 2-like 1 695 Leucine-zipper. anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity skin(1) 1 GACAAAGCCCGGCTGCTGCGG 0.607 HOXB13 10481 broad.mit.edu 37 17 46805700 46805700 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:46805700C>T uc002ioa.2 - 1 412 c.256G>A c.(256-258)GGG>AGG p.G86R NM_006361 NP_006352 Q92826 HXB13_HUMAN homeobox B13 86 angiogenesis|epidermis development|response to wounding sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GAGTAGTACCCGCCTCCAAAG 0.687 MYST2 11143 broad.mit.edu 37 17 47869286 47869286 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:47869286C>T uc002ipm.2 + 2 180 c.54C>T c.(52-54)TCC>TCT p.S18S MYST2_uc002ipl.1_Silent_p.S18S|MYST2_uc010wma.1_Silent_p.S18S|MYST2_uc010wmb.1_Silent_p.S18S|MYST2_uc010wmc.1_Silent_p.S18S|MYST2_uc010wmd.1_5'UTR|MYST2_uc010wme.1_5'UTR NM_007067 NP_008998 O95251 MYST2_HUMAN MYST histone acetyltransferase 2 18 Ser-rich. DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 CCGAAGATTCCGATTTTTCTA 0.473 CACNA1G 8913 broad.mit.edu 37 17 48668860 48668860 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:48668860C>T uc002irk.1 + 11 2890 c.2518C>T c.(2518-2520)CGT>TGT p.R840C CACNA1G_uc002iri.1_Missense_Mutation_p.R840C|CACNA1G_uc002irj.1_Missense_Mutation_p.R840C|CACNA1G_uc002irl.1_Missense_Mutation_p.R840C|CACNA1G_uc002irm.1_Missense_Mutation_p.R840C|CACNA1G_uc002irn.1_Missense_Mutation_p.R840C|CACNA1G_uc002iro.1_Missense_Mutation_p.R840C|CACNA1G_uc002irp.1_Missense_Mutation_p.R840C|CACNA1G_uc002irq.1_Missense_Mutation_p.R840C|CACNA1G_uc002irr.1_Missense_Mutation_p.R840C|CACNA1G_uc002irs.1_Missense_Mutation_p.R840C|CACNA1G_uc002irt.1_Missense_Mutation_p.R840C|CACNA1G_uc002irv.1_Missense_Mutation_p.R840C|CACNA1G_uc002irw.1_Missense_Mutation_p.R840C|CACNA1G_uc002iru.1_Missense_Mutation_p.R840C|CACNA1G_uc002irx.1_Missense_Mutation_p.R753C|CACNA1G_uc002iry.1_Missense_Mutation_p.R753C|CACNA1G_uc002irz.1_Missense_Mutation_p.R753C|CACNA1G_uc002isa.1_Missense_Mutation_p.R753C|CACNA1G_uc002isb.1_Missense_Mutation_p.R753C|CACNA1G_uc002isc.1_Missense_Mutation_p.R753C|CACNA1G_uc002isd.1_Missense_Mutation_p.R753C|CACNA1G_uc002ise.1_Missense_Mutation_p.R753C|CACNA1G_uc002isf.1_Missense_Mutation_p.R753C|CACNA1G_uc002isg.1_Missense_Mutation_p.R753C|CACNA1G_uc002ish.1_Missense_Mutation_p.R753C|CACNA1G_uc002isi.1_Missense_Mutation_p.R753C NM_018896 NP_061496 O43497 CAC1G_HUMAN voltage-dependent calcium channel alpha 1G 840 Helical; Name=S4 of repeat II; (Potential).|II. axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(1) 1 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CCGCCTGATGCGTGTGCTGAA 0.667 GDPD1 284161 broad.mit.edu 37 17 57351092 57351092 + Nonsense_Mutation SNP T T A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:57351092T>A uc002ixk.1 + 10 1040 c.903T>A c.(901-903)TAT>TAA p.Y301* NM_182569 NP_872375 Q8N9F7 GDPD1_HUMAN glycerophosphodiester phosphodiesterase domain 301 GDPD.|Extracellular (Potential). glycerol metabolic process|lipid metabolic process cytoplasm|integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding 0 all_neural(34;0.0837)|Medulloblastoma(34;0.0922) TGACAGACTATCCAACAAAGC 0.318 TACO1 51204 broad.mit.edu 37 17 61685281 61685281 + Silent SNP C C T rs151139810 byFrequency TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:61685281C>T uc002jbd.2 + 5 1013 c.813C>T c.(811-813)CCC>CCT p.P271P NM_016360 NP_057444 Q9BSH4 TACO1_HUMAN translational activator of mitochondrially 271 regulation of translation mitochondrion 0 TGGCTGAGCCCGACCTGGAAC 0.542 FTSJ3 117246 broad.mit.edu 37 17 61897300 61897300 + Silent SNP T T A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:61897300T>A uc002jbz.2 - 20 2484 c.2406A>T c.(2404-2406)GTA>GTT p.V802V FTSJ3_uc002jca.2_Silent_p.V802V NM_017647 NP_060117 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 802 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding ovary(1) 1 CTTTTTTGGCTACAACGTAGG 0.542 CCDC45 90799 broad.mit.edu 37 17 62527046 62527046 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:62527046G>A uc002jem.2 + 13 1507 c.1449G>A c.(1447-1449)GCG>GCA p.A483A CCDC45_uc002jen.2_RNA|CCDC45_uc010wqb.1_Silent_p.A319A|CCDC45_uc002jeo.1_5'Flank NM_138363 NP_612372 Q96GE4 CEP95_HUMAN coiled-coil domain containing 45 483 centrosome|spindle pole protein binding 0 Breast(5;1.32e-14) BRCA - Breast invasive adenocarcinoma(8;8.6e-12) CCCTTTAGGCGTTTACTGAAG 0.284 CACNG4 27092 broad.mit.edu 37 17 65020985 65020985 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:65020985G>A uc002jft.1 + 3 329 c.314G>A c.(313-315)CGA>CAA p.R105Q NM_014405 NP_055220 Q9UBN1 CCG4_HUMAN voltage-dependent calcium channel gamma-4 105 Extracellular (Potential). membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane voltage-gated calcium channel activity central_nervous_system(1) 1 all_cancers(12;9.86e-11) BRCA - Breast invasive adenocarcinoma(6;1.35e-07) GGCATCGTGCGAGCCTCCAGC 0.637 CACNG4 27092 broad.mit.edu 37 17 65027085 65027085 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:65027085G>A uc002jft.1 + 4 964 c.949G>A c.(949-951)GTC>ATC p.V317I NM_014405 NP_055220 Q9UBN1 CCG4_HUMAN voltage-dependent calcium channel gamma-4 317 Cytoplasmic (Potential). membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane voltage-gated calcium channel activity central_nervous_system(1) 1 all_cancers(12;9.86e-11) BRCA - Breast invasive adenocarcinoma(6;1.35e-07) AGGTTTCCACGTCAGCATGCT 0.607 ARSG 22901 broad.mit.edu 37 17 66391298 66391298 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:66391298C>T uc002jhc.2 + 10 1972 c.1176C>T c.(1174-1176)TCC>TCT p.S392S ARSG_uc002jhb.1_Silent_p.S228S NM_014960 NP_055775 Q96EG1 ARSG_HUMAN Arylsulfatase G precursor 392 sulfur compound metabolic process endoplasmic reticulum|extracellular space|lysosome arylsulfatase activity|metal ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) TGGACGTCTCCGAGGTGCTCT 0.582 CD300E 342510 broad.mit.edu 37 17 72613483 72613483 + Silent SNP G G A rs111412583 byFrequency TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:72613483G>A uc002jlb.1 - 2 203 c.162C>T c.(160-162)TAC>TAT p.Y54Y NM_181449 NP_852114 Q496F6 CLM2_HUMAN CD300e molecule precursor 54 Ig-like V-type.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity skin(2)|large_intestine(1)|ovary(1) 4 ATGACGTGTCGTACTGTCCTC 0.562 TMEM104 54868 broad.mit.edu 37 17 72832455 72832455 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:72832455G>A uc002jls.3 + 10 1282 c.1120G>A c.(1120-1122)GTG>ATG p.V374M TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.2_Missense_Mutation_p.V374M NM_017728 NP_060198 Q8NE00 TM104_HUMAN transmembrane protein 104 374 Helical; (Potential). integral to membrane 0 all_lung(278;0.23) CATCATTGCCGTGACCCTGCG 0.637 GGA3 23163 broad.mit.edu 37 17 73239539 73239539 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:73239539A>G uc002jni.1 - 5 422 c.413T>C c.(412-414)CTG>CCG p.L138P GGA3_uc002jnj.1_Missense_Mutation_p.L105P|GGA3_uc010wrw.1_Missense_Mutation_p.L16P|GGA3_uc002jnk.1_Missense_Mutation_p.L66P|GGA3_uc010wrx.1_Missense_Mutation_p.L16P|GGA3_uc010wry.1_Missense_Mutation_p.L66P|GGA3_uc010wrz.1_Missense_Mutation_p.L105P NM_138619 NP_619525 Q9NZ52 GGA3_HUMAN ADP-ribosylation factor binding protein 3 138 VHS.|Binds to ARF1 (in long isoform). intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|trans-Golgi network ADP-ribosylation factor binding ovary(1)|breast(1) 2 all cancers(21;2.39e-06)|Epithelial(20;2.38e-05) CTGTCTCTTCAGCATGTGGTA 0.572 EVPL 2125 broad.mit.edu 37 17 74005351 74005351 + Missense_Mutation SNP G G A rs145535523 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:74005351G>A uc002jqi.2 - 22 4163 c.3935C>T c.(3934-3936)ACG>ATG p.T1312M EVPL_uc010wss.1_Missense_Mutation_p.T1334M|EVPL_uc010wst.1_Missense_Mutation_p.T782M NM_001988 NP_001979 Q92817 EVPL_HUMAN envoplakin 1312 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity pancreas(2)|central_nervous_system(1)|skin(1) 4 CTTGCTCACCGTCTTGGTCTC 0.692 EVPL 2125 broad.mit.edu 37 17 74005498 74005498 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:74005498C>T uc002jqi.2 - 22 4016 c.3788G>A c.(3787-3789)AGC>AAC p.S1263N EVPL_uc010wss.1_Missense_Mutation_p.S1285N|EVPL_uc010wst.1_Missense_Mutation_p.S733N NM_001988 NP_001979 Q92817 EVPL_HUMAN envoplakin 1263 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity pancreas(2)|central_nervous_system(1)|skin(1) 4 CACCTCGGGGCTCCTCTCATG 0.662 RNF213 57674 broad.mit.edu 37 17 78313974 78313974 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:78313974A>G uc002jyh.1 + 1 249 c.26A>G c.(25-27)CAC>CGC p.H9R NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GACTGGGAGCACTGCTACCTC 0.622 BAIAP2 10458 broad.mit.edu 37 17 79077502 79077502 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:79077502C>T uc002jzg.2 + 8 951 c.843C>T c.(841-843)CCC>CCT p.P281P BAIAP2_uc002jyz.3_Silent_p.P281P|BAIAP2_uc002jza.2_Silent_p.P281P|BAIAP2_uc002jzc.2_Silent_p.P281P|BAIAP2_uc002jzb.2_Silent_p.P38P|BAIAP2_uc002jzd.2_Silent_p.P281P|BAIAP2_uc002jzf.2_Silent_p.P281P|BAIAP2_uc002jze.2_Silent_p.P314P|BAIAP2_uc010wuh.1_Silent_p.P203P|BAIAP2_uc002jzh.2_Silent_p.P282P|BAIAP2_uc010wui.1_Silent_p.P144P NM_017451 NP_059345 Q9UQB8 BAIP2_HUMAN BAI1-associated protein 2 isoform 2 281 axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding 0 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) CGGTGCCCCCCGAGCTGGCAC 0.701 FOXK2 3607 broad.mit.edu 37 17 80521332 80521332 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:80521332C>T uc002kfn.2 + 2 693 c.522C>T c.(520-522)GCC>GCT p.A174A FOXK2_uc002kfm.1_Silent_p.A174A|FOXK2_uc010diu.2_Silent_p.A174A NM_004514 NP_004505 Q01167 FOXK2_HUMAN forkhead box K2 174 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion 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 0 Breast(20;0.00106)|all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415) CAGTGAAGGCCGTACAGCCAC 0.587 FN3K 64122 broad.mit.edu 37 17 80708606 80708606 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:80708606G>A uc010wvs.1 + 6 966 c.905G>A c.(904-906)GGC>GAC p.G302D TBCD_uc002kfx.1_5'Flank|TBCD_uc002kfy.1_5'Flank|TBCD_uc002kfz.2_5'Flank NM_022158 NP_071441 Q9H479 FN3K_HUMAN fructosamine 3 kinase 302 fructoselysine metabolic process fructosamine-3-kinase activity 0 Breast(20;0.000523)|all_neural(118;0.0952) BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061) CCTTCCTTGGGCACCATGCGA 0.413 DLGAP1 9229 broad.mit.edu 37 18 3879216 3879216 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr18:3879216C>T uc002kmf.2 - 1 920 c.853G>A c.(853-855)GTG>ATG p.V285M DLGAP1_uc010wyz.1_Missense_Mutation_p.V285M|DLGAP1_uc002kmk.2_Missense_Mutation_p.V285M|uc002kml.1_Intron NM_004746 NP_004737 O14490 DLGP1_HUMAN discs large homolog-associated protein 1 isoform 285 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane ovary(2)|pancreas(1)|skin(1) 4 Colorectal(8;0.0257) GCCCGGCTCACGGTGAGCGTG 0.637 TXNDC2 84203 broad.mit.edu 37 18 9887885 9887885 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr18:9887885T>C uc002koi.3 + 2 1858 c.1409T>C c.(1408-1410)CTG>CCG p.L470P TXNDC2_uc010wzq.1_RNA|TXNDC2_uc002koh.3_Missense_Mutation_p.L403P NM_001098529 NP_001091999 Q86VQ3 TXND2_HUMAN thioredoxin domain-containing 2 isoform 2 470 Thioredoxin. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity ovary(1)|pancreas(1) 2 GGGGAGAGGCTGGTGGCTGTG 0.572 NAPG 8774 broad.mit.edu 37 18 10532792 10532792 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr18:10532792C>T uc002kon.2 + 3 436 c.209C>T c.(208-210)GCT>GTT p.A70V NAPG_uc010wzr.1_5'UTR|NAPG_uc002koo.2_Intron NM_003826 NP_003817 Q99747 SNAG_HUMAN N-ethylmaleimide-sensitive factor attachment 70 cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization membrane|membrane fraction|mitochondrion protein binding 0 AATAATAGGGCGTATCTTTTT 0.323 IMPA2 3613 broad.mit.edu 37 18 12028085 12028085 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr18:12028085T>C uc002kqp.1 + 6 748 c.534T>C c.(532-534)CGT>CGC p.R178R IMPA2_uc002kqo.1_5'UTR|IMPA2_uc002kqq.1_Silent_p.R58R NM_014214 NP_055029 O14732 IMPA2_HUMAN inositol(myo)-1(or 4)-monophosphatase 2 178 inositol phosphate dephosphorylation|signal transduction cytoplasm inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity skin(2) 2 Lithium(DB01356) GCCCCAAACGTGACCCTGCGA 0.512 SNRPD1 6632 broad.mit.edu 37 18 19203788 19203788 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr18:19203788G>A uc002ktj.1 + 3 302 c.171G>A c.(169-171)ACG>ACA p.T57T NM_006938 NP_008869 P62314 SMD1_HUMAN small nuclear ribonucleoprotein D1 polypeptide 57 ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex protein binding|RNA binding 0 AGCTGGAAACGCTGAGTATTC 0.388 ASXL3 80816 broad.mit.edu 37 18 31323629 31323629 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr18:31323629A>G uc010dmg.1 + 12 3872 c.3817A>G c.(3817-3819)ACA>GCA p.T1273A ASXL3_uc002kxq.2_Missense_Mutation_p.T980A NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1273 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 TGCAAACACTACAATTTCTGC 0.388 ASXL3 80816 broad.mit.edu 37 18 31325578 31325578 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr18:31325578C>T uc010dmg.1 + 12 5821 c.5766C>T c.(5764-5766)GAC>GAT p.D1922D ASXL3_uc002kxq.2_Silent_p.D1629D NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1922 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 TCCACACTGACGCTGGTACCT 0.547 FHOD3 80206 broad.mit.edu 37 18 34174816 34174816 + Missense_Mutation SNP G G A rs144223411 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr18:34174816G>A uc002kzt.1 + 7 770 c.673G>A c.(673-675)GCA>ACA p.A225T FHOD3_uc002kzr.1_Missense_Mutation_p.A225T|FHOD3_uc002kzs.1_Missense_Mutation_p.A225T|FHOD3_uc002kzu.1_Missense_Mutation_p.A50T|FHOD3_uc010dmz.1_5'UTR NM_025135 NP_079411 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 225 GBD/FH3. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding skin(3)|large_intestine(2)|breast(2)|ovary(1) 8 all_epithelial(2;0.0181)|Colorectal(2;0.0195) GGAGTCCAACGCACCTCTCCT 0.517 KIAA1632 57724 broad.mit.edu 37 18 43446902 43446902 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr18:43446902T>C uc002lbm.2 - 38 6582 c.6482A>G c.(6481-6483)TAC>TGC p.Y2161C KIAA1632_uc010xcq.1_Missense_Mutation_p.Y715C|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.Y1036C NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN hypothetical protein LOC57724 2161 autophagy 0 CACACTCTGGTACGACACAAT 0.398 ST8SIA5 29906 broad.mit.edu 37 18 44336460 44336460 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr18:44336460C>T uc002lcj.1 - 1 580 c.12G>A c.(10-12)GCG>GCA p.A4A ST8SIA5_uc010xcy.1_Silent_p.A4A|ST8SIA5_uc010xcz.1_Silent_p.A4A|ST8SIA5_uc010dno.1_Silent_p.A4A NM_013305 NP_037437 O15466 SIA8E_HUMAN ST8 alpha-N-acetyl-neuraminide 4 Cytoplasmic (Potential). glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 3 CCGAGGGGTCCGCGTAGCGCA 0.453 POLI 11201 broad.mit.edu 37 18 51820306 51820306 + Silent SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr18:51820306C>A uc002lfj.3 + 10 1760 c.1692C>A c.(1690-1692)GCC>GCA p.A564A POLI_uc010xds.1_Silent_p.A485A|POLI_uc002lfk.3_Silent_p.A461A|POLI_uc010dpg.2_Silent_p.A160A NM_007195 NP_009126 Q9UNA4 POLI_HUMAN DNA polymerase iota 564 DNA repair|DNA replication nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding ovary(2)|kidney(1) 3 Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197) CATTACATGCCTCTAGAGGAG 0.353 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage WDR7 23335 broad.mit.edu 37 18 54339760 54339760 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr18:54339760G>T uc002lgk.1 + 2 225 c.14G>T c.(13-15)AGC>ATC p.S5I WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.S5I NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN rabconnectin-3 beta isoform 1 5 ovary(2)|skin(1) 3 Lung(128;0.0238)|Colorectal(16;0.0296) GCAGGAAACAGCCTTGTTCTA 0.378 WDR7 23335 broad.mit.edu 37 18 54358513 54358513 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr18:54358513G>T uc002lgk.1 + 8 995 c.784G>T c.(784-786)GGG>TGG p.G262W WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.G262W NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN rabconnectin-3 beta isoform 1 262 ovary(2)|skin(1) 3 Lung(128;0.0238)|Colorectal(16;0.0296) GACATGGACCGGGGGGGACTT 0.418 WDR7 23335 broad.mit.edu 37 18 54424292 54424292 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr18:54424292G>A uc002lgk.1 + 15 2679 c.2468G>A c.(2467-2469)CGC>CAC p.R823H WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.R823H NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN rabconnectin-3 beta isoform 1 823 ovary(2)|skin(1) 3 Lung(128;0.0238)|Colorectal(16;0.0296) TGCCTGGATCGCCTTGGAATG 0.468 WDR7 23335 broad.mit.edu 37 18 54424475 54424475 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr18:54424475G>A uc002lgk.1 + 15 2862 c.2651G>A c.(2650-2652)CGT>CAT p.R884H WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.R884H NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN rabconnectin-3 beta isoform 1 884 ovary(2)|skin(1) 3 Lung(128;0.0238)|Colorectal(16;0.0296) GGAGTGTCCCGTGCCGTCACC 0.443 CDH20 28316 broad.mit.edu 37 18 59221656 59221656 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr18:59221656G>A uc010dps.1 + 11 2146 c.2134G>A c.(2134-2136)GTG>ATG p.V712M CDH20_uc002lif.2_Missense_Mutation_p.V706M NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN cadherin 20, type 2 preproprotein 712 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|ovary(1)|pancreas(1) 5 Colorectal(73;0.186) CTCCCGCTACGTGCCTCAGAC 0.682 RNF152 220441 broad.mit.edu 37 18 59483442 59483442 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr18:59483442G>A uc002lih.1 - 2 667 c.255C>T c.(253-255)TCC>TCT p.S85S NM_173557 NP_775828 Q8N8N0 RN152_HUMAN ring finger protein 152 85 apoptosis|protein K48-linked ubiquitination integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding breast(1) 1 Colorectal(73;0.186) GGGTGTGTTCGGAAGTGTGTG 0.642 PHLPP1 23239 broad.mit.edu 37 18 60645690 60645690 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr18:60645690G>A uc002lis.2 + 18 2822 c.2644G>A c.(2644-2646)GAT>AAT p.D882N NM_194449 NP_919431 O60346 PHLP1_HUMAN PH domain and leucine rich repeat protein 1394 PP2C-like. apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity 0 CAACGTGCCCGATGCCCTGGC 0.627 TSHZ1 10194 broad.mit.edu 37 18 72999537 72999537 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr18:72999537C>T uc002lly.2 + 2 2603 c.2040C>T c.(2038-2040)AAC>AAT p.N680N NM_005786 NP_005777 Q6ZSZ6 TSH1_HUMAN teashirt family zinc finger 1 725 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) AGGTCACCAACGGCTGTAACA 0.577 PTBP1 5725 broad.mit.edu 37 19 804843 804843 + Silent SNP C C T rs147803014 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:804843C>T uc002lpr.2 + 7 727 c.621C>T c.(619-621)TTC>TTT p.F207F PTBP1_uc002lpp.2_Silent_p.F207F|PTBP1_uc002lpq.2_Silent_p.F207F|PTBP1_uc002lps.2_Intron|PTBP1_uc002lpt.2_RNA|PTBP1_uc002lpu.1_Silent_p.F177F NM_031991 NP_114368 P26599 PTBP1_HUMAN polypyrimidine tract-binding protein 1 isoform 207 RRM 2. negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding kidney(1)|skin(1) 2 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCTCCAAGTTCGGCACAGTGT 0.627 DAZAP1 26528 broad.mit.edu 37 19 1428885 1428885 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:1428885G>A uc002lsn.2 + 8 780 c.591G>A c.(589-591)GCG>GCA p.A197A DAZAP1_uc002lsm.2_Silent_p.A197A|DAZAP1_uc002lso.2_Silent_p.A196A|DAZAP1_uc002lsl.1_Silent_p.A197A NM_018959 NP_061832 Q96EP5 DAZP1_HUMAN DAZ associated protein 1 isoform b 197 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleotide binding|RNA binding breast(1) 1 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) 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) AGAGCCAAGCGCCGGGACAGC 0.657 APC2 10297 broad.mit.edu 37 19 1466805 1466805 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:1466805G>T uc002lsr.1 + 15 3713 c.3505G>T c.(3505-3507)GGC>TGC p.G1169C APC2_uc002lss.1_Missense_Mutation_p.G751C|APC2_uc002lst.1_Missense_Mutation_p.G1169C|APC2_uc002lsu.1_Missense_Mutation_p.G1168C|C19orf25_uc010xgn.1_Intron NM_005883 NP_005874 O95996 APC2_HUMAN adenomatosis polyposis coli 2 1169 Interaction with CTNNB1.|2.|Ser-rich.|5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|pancreas(1) 4 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) 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) GAGCTCGCTGGGCAGCTTCGA 0.682 MOBKL2A 126308 broad.mit.edu 37 19 2076887 2076887 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:2076887C>T uc002luu.2 - 2 706 c.547G>A c.(547-549)GTG>ATG p.V183M MOBKL2A_uc002luv.2_Missense_Mutation_p.V183M NM_130807 NP_570719 Q96BX8 MOL2A_HUMAN MOB-LAK 183 intracellular metal ion binding lung(1) 1 Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137) 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) CAGGTGTTCACGTGGGCCTCG 0.612 C19orf29 58509 broad.mit.edu 37 19 3612132 3612132 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:3612132C>T uc002lyh.2 - 10 2119 c.2066G>A c.(2065-2067)CGC>CAC p.R689H C19orf29_uc010xho.1_Missense_Mutation_p.R148H|C19orf29_uc010dtn.2_Missense_Mutation_p.R537H|C19orf29_uc002lyi.3_Missense_Mutation_p.R689H|C19orf29_uc010dto.2_RNA NM_001080543 NP_001074012 Q8WUQ7 CS029_HUMAN chromosome 19 open reading frame 29 689 catalytic step 2 spliceosome protein binding 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) GGGCGTGGAGCGCTTGTCGAT 0.577 PIP5K1C 23396 broad.mit.edu 37 19 3641788 3641788 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:3641788C>T uc002lyj.1 - 15 1759 c.1702G>A c.(1702-1704)GCG>ACG p.A568T PIP5K1C_uc010xhq.1_Missense_Mutation_p.A568T|PIP5K1C_uc010xhr.1_Missense_Mutation_p.A568T NM_012398 NP_036530 O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 568 axon guidance cytosol|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding stomach(2)|skin(2) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) TCCTCTTCCGCGGGTGGCTCC 0.637 PIP5K1C 23396 broad.mit.edu 37 19 3653507 3653507 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:3653507G>A uc002lyj.1 - 7 759 c.702C>T c.(700-702)CGC>CGT p.R234R PIP5K1C_uc010xhq.1_Silent_p.R234R|PIP5K1C_uc010xhr.1_Silent_p.R234R NM_012398 NP_036530 O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 234 PIPK. axon guidance cytosol|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding stomach(2)|skin(2) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) TGACCACGACGCGGATGTTCT 0.612 TJP3 27134 broad.mit.edu 37 19 3736172 3736172 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:3736172C>T uc010xhv.1 + 10 1236 c.1236C>T c.(1234-1236)CCC>CCT p.P412P TJP3_uc010xhs.1_Silent_p.P379P|TJP3_uc010xht.1_Silent_p.P343P|TJP3_uc010xhu.1_Silent_p.P388P|TJP3_uc010xhw.1_Silent_p.P398P NM_014428 NP_055243 O95049 ZO3_HUMAN tight junction protein 3 393 tight junction protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) GGTACAGCCCCGACACGCGTG 0.662 ZFR2 23217 broad.mit.edu 37 19 3831668 3831668 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:3831668G>A uc002lyw.2 - 4 600 c.588C>T c.(586-588)ACC>ACT p.T196T ZFR2_uc010xhx.1_RNA NM_015174 NP_055989 Q9UPR6 ZFR2_HUMAN zinc finger RNA binding protein 2 isoform 1 196 Pro-rich. intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|pancreas(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19) CCGTGTAGGCGGTGCAGGTGG 0.627 PLIN4 729359 broad.mit.edu 37 19 4512339 4512339 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:4512339C>T uc002mar.1 - 3 1591 c.1591G>A c.(1591-1593)GTG>ATG p.V531M PLIN4_uc010dub.1_5'Flank NM_001080400 NP_001073869 Q96Q06 PLIN4_HUMAN plasma membrane associated protein, S3-12 531 27 X 33 AA approximate tandem repeat.|14. lipid particle|plasma membrane 0 CCTTTGGCCACGTTCACAGCA 0.617 SEMA6B 10501 broad.mit.edu 37 19 4550844 4550844 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:4550844G>A uc010duc.1 - 10 1126 c.1088C>T c.(1087-1089)ACG>ATG p.T363M SEMA6B_uc010dud.2_Missense_Mutation_p.T363M|SEMA6B_uc010xih.1_Missense_Mutation_p.T363M NM_032108 NP_115484 Q9H3T3 SEM6B_HUMAN semaphorin 6B precursor 363 Extracellular (Potential).|Sema. cell differentiation|nervous system development integral to membrane receptor activity skin(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) CGGCACCGGCGTCCAGATGGA 0.652 SEMA6B 10501 broad.mit.edu 37 19 4554436 4554436 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:4554436G>T uc010duc.1 - 8 773 c.735C>A c.(733-735)TTC>TTA p.F245L SEMA6B_uc010dud.2_Missense_Mutation_p.F245L|SEMA6B_uc010xih.1_Missense_Mutation_p.F245L NM_032108 NP_115484 Q9H3T3 SEM6B_HUMAN semaphorin 6B precursor 245 Extracellular (Potential).|Sema. cell differentiation|nervous system development integral to membrane receptor activity skin(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) CAATCTCCCGGAAGAAGAAGT 0.567 PLIN3 10226 broad.mit.edu 37 19 4859941 4859941 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:4859941C>T uc002mbj.2 - 3 339 c.162G>A c.(160-162)CCG>CCA p.P54P PLIN3_uc002mbk.2_Silent_p.P54P|PLIN3_uc002mbl.3_Silent_p.P54P NM_005817 NP_005808 O60664 PLIN3_HUMAN mannose 6 phosphate receptor binding protein 1 54 vesicle-mediated transport endosome membrane|Golgi apparatus|lipid particle protein binding 0 Galsulfase(DB01279)|Idursulfase(DB01271) TCTTGATGTGCGGGTAGCTCT 0.637 UHRF1 29128 broad.mit.edu 37 19 4954817 4954817 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:4954817C>T uc002mbo.2 + 17 2282 c.2114C>T c.(2113-2115)CCG>CTG p.P705L UHRF1_uc010xik.1_RNA|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Missense_Mutation_p.P718L NM_001048201 NP_001041666 Q96T88 UHRF1_HUMAN ubiquitin-like with PHD and ring finger domains 705 cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter nucleus acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276) AAGGACCGGCCGGCGAGCGGC 0.498 INSR 3643 broad.mit.edu 37 19 7122772 7122772 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:7122772G>A uc002mgd.1 - 19 3491 c.3382C>T c.(3382-3384)CGC>TGC p.R1128C INSR_uc002mge.1_Missense_Mutation_p.R1116C NM_000208 NP_000199 P06213 INSR_HUMAN insulin receptor isoform Long precursor 1128 Protein kinase.|Cytoplasmic (Potential). activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1) 12 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GGGGGAGGGCGGCCAGGATTA 0.587 ZNF358 140467 broad.mit.edu 37 19 7585781 7585781 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:7585781C>T uc002mgn.2 + 2 1823 c.1653C>T c.(1651-1653)GGC>GGT p.G551G MCOLN1_uc010dvh.1_5'Flank|MCOLN1_uc002mgo.2_5'Flank|MCOLN1_uc002mgp.2_5'Flank NM_018083 NP_060553 Q9NW07 ZN358_HUMAN zinc finger protein 358 551 embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 TCCCTACCGGCGAGAGTCCAG 0.652 KIAA1543 57662 broad.mit.edu 37 19 7682715 7682715 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:7682715G>A uc002mgv.3 + 17 3623 c.3522G>A c.(3520-3522)ACG>ACA p.T1174T KIAA1543_uc002mgu.3_Silent_p.T1201T|KIAA1543_uc002mgw.2_Silent_p.T304T NM_020902 NP_065953 Q9P1Y5 CAMP3_HUMAN NEZHA isoform 2 1174 CKK. epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding pancreas(1) 1 CGCTCTACACGCTGTCGGGGG 0.612 MAP2K7 5609 broad.mit.edu 37 19 7975196 7975196 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:7975196G>A uc002mit.2 + 4 450 c.385G>A c.(385-387)GGC>AGC p.G129S MAP2K7_uc002miv.2_Missense_Mutation_p.G129S|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.G129S|MAP2K7_uc010dvv.2_Missense_Mutation_p.G4S NM_145185 NP_660186 O14733 MP2K7_HUMAN mitogen-activated protein kinase kinase 7 129 Protein kinase.|ATP (By similarity). activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1) 11 Etoposide(DB00773) GATGGGCAGCGGCACCTGCGG 0.672 MAP2K7 5609 broad.mit.edu 37 19 7975348 7975348 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:7975348G>A uc002mit.2 + 5 523 c.458G>A c.(457-459)CGC>CAC p.R153H MAP2K7_uc002miv.2_Missense_Mutation_p.R153H|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.R153H|MAP2K7_uc010dvv.2_Missense_Mutation_p.R28H NM_145185 NP_660186 O14733 MP2K7_HUMAN mitogen-activated protein kinase kinase 7 153 Protein kinase. activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1) 11 Etoposide(DB00773) CAAATGCGGCGCTCCGGGAAC 0.637 MAP2K7 5609 broad.mit.edu 37 19 7976201 7976201 + Missense_Mutation SNP C C A rs56278855 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:7976201C>A uc002mit.2 + 8 987 c.922C>A c.(922-924)CTG>ATG p.L308M MAP2K7_uc002miv.2_Missense_Mutation_p.L308M|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.L308M|MAP2K7_uc010dvv.2_Missense_Mutation_p.L183M NM_145185 NP_660186 O14733 MP2K7_HUMAN mitogen-activated protein kinase kinase 7 308 Protein kinase. activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1) 11 Etoposide(DB00773) CGTATGGAGCCTGGGCATCTC 0.637 FBN3 84467 broad.mit.edu 37 19 8176641 8176641 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:8176641G>A uc002mjf.2 - 31 3996 c.3975C>T c.(3973-3975)TGC>TGT p.C1325C NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 1325 EGF-like 20; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 CCTGGGAGACGCATTCATCCA 0.627 LASS4 79603 broad.mit.edu 37 19 8320601 8320601 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:8320601T>C uc002mjg.2 + 5 722 c.402T>C c.(400-402)TGT>TGC p.C134C LASS4_uc002mjh.2_Silent_p.C83C|LASS4_uc002mji.2_5'UTR|LASS4_uc010dvz.2_Silent_p.C134C NM_024552 NP_078828 Q9HA82 CERS4_HUMAN LAG1 homolog, ceramide synthase 4 134 TLC. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity ovary(1) 1 AGAAGTTCTGTGAGGCCAGGT 0.667 HNRNPM 4670 broad.mit.edu 37 19 8533719 8533719 + Splice_Site SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:8533719G>A uc010dwe.2 + 9 975 c.895_splice c.e9+1 p.H299_splice HNRNPM_uc010dwc.1_Splice_Site_p.H299_splice|HNRNPM_uc010xke.1_Splice_Site_p.H260_splice|HNRNPM_uc010dwd.2_Splice_Site_p.H260_splice|HNRNPM_uc002mka.2_Splice_Site_p.H179_splice NM_005968 NP_005959 P52272 HNRPM_HUMAN heterogeneous nuclear ribonucleoprotein M alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles nucleotide binding|protein domain specific binding|RNA binding 0 CAACTTCCCCGTAAGTGTTTC 0.408 MUC16 94025 broad.mit.edu 37 19 9069699 9069699 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:9069699T>C uc002mkp.2 - 3 17951 c.17747A>G c.(17746-17748)CAA>CGA p.Q5916R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5918 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 GGGAGGGCTTTGCCATGACAC 0.493 ZNF560 147741 broad.mit.edu 37 19 9578164 9578164 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:9578164G>A uc002mlp.1 - 10 1669 c.1459C>T c.(1459-1461)CGC>TGC p.R487C ZNF560_uc010dwr.1_Missense_Mutation_p.R381C NM_152476 NP_689689 Q96MR9 ZN560_HUMAN zinc finger protein 560 487 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1) 6 CAATCAAAGCGTTTCTGTCCT 0.403 COL5A3 50509 broad.mit.edu 37 19 10114729 10114729 + Silent SNP C C T rs140294240 byFrequency TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:10114729C>T uc002mmq.1 - 5 773 c.687G>A c.(685-687)CCG>CCA p.P229P NM_015719 NP_056534 P25940 CO5A3_HUMAN collagen, type V, alpha 3 preproprotein 229 Nonhelical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent ovary(7)|lung(1)|central_nervous_system(1)|skin(1) 10 Epithelial(33;7.11e-05) CTGTGGCTGCCGGTGCCAGGT 0.577 ILF3 3609 broad.mit.edu 37 19 10793819 10793819 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:10793819C>T uc002mpn.2 + 14 1872 c.1555C>T c.(1555-1557)CCG>TCG p.P519S ILF3_uc002mpm.2_Missense_Mutation_p.P523S|ILF3_uc002mpl.2_Missense_Mutation_p.P519S|ILF3_uc002mpk.2_Missense_Mutation_p.P519S|ILF3_uc010xli.1_Missense_Mutation_p.P117S|ILF3_uc002mpo.2_Missense_Mutation_p.P523S|ILF3_uc002mpp.2_Missense_Mutation_p.P344S|ILF3_uc002mpq.2_5'Flank NM_012218 NP_036350 Q12906 ILF3_HUMAN interleukin enhancer binding factor 3 isoform a 519 M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding|protein binding ovary(3) 3 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) ACAGCAGGGGCCGATCCTGAC 0.562 TMED1 11018 broad.mit.edu 37 19 10943787 10943787 + Missense_Mutation SNP A A C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:10943787A>C uc002mpy.2 - 4 684 c.568T>G c.(568-570)TTG>GTG p.L190V DNM2_uc002mpx.1_3'UTR NM_006858 NP_006849 Q13445 TMED1_HUMAN interleukin 1 receptor-like 1 ligand precursor 190 Extracellular (Potential). cell-cell signaling|signal transduction|transport integral to membrane|plasma membrane receptor binding ovary(2)|breast(1)|central_nervous_system(1) 4 ACCCGCTCCAAGTTGCCCTCT 0.627 ZNF440 126070 broad.mit.edu 37 19 11942182 11942182 + Splice_Site SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:11942182G>A uc002msp.1 + 4 348 c.192_splice c.e4-1 p.R64_splice NM_152357 NP_689570 Q8IYI8 ZN440_HUMAN zinc finger protein 440 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ATTTTTGACAGGAGTCTCATA 0.343 ZNF709 163051 broad.mit.edu 37 19 12574828 12574828 + Missense_Mutation SNP T T A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:12574828T>A uc002mtv.3 - 4 2069 c.1908A>T c.(1906-1908)AGA>AGT p.R636S ZNF709_uc002mtw.3_Missense_Mutation_p.R604S|ZNF709_uc002mtx.3_Missense_Mutation_p.R636S NM_152601 NP_689814 Q8N972 ZN709_HUMAN zinc finger protein 709 isoform a 636 C2H2-type 19. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CACTATGAACTCTTTCATGTA 0.323 MAST1 22983 broad.mit.edu 37 19 12963047 12963047 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:12963047G>A uc002mvm.2 + 9 1123 c.995G>A c.(994-996)CGT>CAT p.R332H MAST1_uc002mvk.2_Missense_Mutation_p.R328H NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 332 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|lung(2)|large_intestine(1)|skin(1) 7 GGCCTCACCCGTGACCCCTTT 0.662 NFIX 4784 broad.mit.edu 37 19 13192651 13192651 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:13192651G>A uc010xmx.1 + 8 1313 c.1260G>A c.(1258-1260)TCG>TCA p.S420S NFIX_uc002mwd.2_Silent_p.S412S|NFIX_uc002mwe.2_Silent_p.S404S|NFIX_uc002mwf.2_Silent_p.S374S|NFIX_uc002mwg.1_Silent_p.S411S Q14938 NFIX_HUMAN RecName: Full=Nuclear factor 1; 412 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(19;8.2e-22) CGGATGGCTCGGGCCAGGCCA 0.622 OREG0025286 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TRMT1 55621 broad.mit.edu 37 19 13223783 13223783 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:13223783G>A uc002mwj.2 - 5 934 c.684C>T c.(682-684)GAC>GAT p.D228D TRMT1_uc002mwk.2_Silent_p.D228D|TRMT1_uc002mwl.3_Silent_p.D228D|TRMT1_uc010xmz.1_Silent_p.D14D NM_017722 NP_060192 Q9NXH9 TRM1_HUMAN tRNA methyltransferase 1 isoform 1 228 RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(19;6.08e-22) GBM - Glioblastoma multiforme(1328;0.0356) GATCGATGACGTCAAACCTCT 0.622 OR1I1 126370 broad.mit.edu 37 19 15198125 15198125 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:15198125G>A uc010xoe.1 + 1 249 c.249G>A c.(247-249)GCG>GCA p.A83A NM_001004713 NP_001004713 O60431 OR1I1_HUMAN olfactory receptor, family 1, subfamily I, 83 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|kidney(1) 3 AGATGCTAGCGAACATCCAGG 0.552 CYP4F12 66002 broad.mit.edu 37 19 15806782 15806782 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:15806782C>T uc002nbl.2 + 10 1213 c.1152C>T c.(1150-1152)TGC>TGT p.C384C NM_023944 NP_076433 cytochrome P450, family 4, subfamily F, p.C384C(1) skin(3)|ovary(2)|central_nervous_system(2) 7 Acute lymphoblastic leukemia(2;0.0367) TGACCATGTGCGTGAAGGAGA 0.557 EPS15L1 58513 broad.mit.edu 37 19 16535966 16535966 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:16535966C>T uc002ndz.1 - 9 726 c.720G>A c.(718-720)CCG>CCA p.P240P EPS15L1_uc002ndx.2_Silent_p.P240P|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Silent_p.P130P|EPS15L1_uc010xpf.1_Silent_p.P143P|EPS15L1_uc002nea.1_Silent_p.P240P|EPS15L1_uc010eah.1_Silent_p.P240P|EPS15L1_uc002neb.1_Silent_p.P86P|EPS15L1_uc002nec.1_Silent_p.P240P NM_021235 NP_067058 Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway 240 endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding ovary(3)|skin(2) 5 TGCCGTGGGACGGCGTGGAGC 0.662 NWD1 284434 broad.mit.edu 37 19 16918583 16918583 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:16918583G>A uc002neu.3 + 18 4345 c.3923G>A c.(3922-3924)AGC>AAC p.S1308N NWD1_uc002net.3_Missense_Mutation_p.S1173N|NWD1_uc002nev.3_Missense_Mutation_p.S1102N Q149M9 NWD1_HUMAN RecName: Full=NACHT and WD repeat domain-containing protein 1; 1308 ATP binding skin(3)|ovary(2)|pancreas(2) 7 ATGTCCCTGAGCAAGTGCGAG 0.612 FCHO1 23149 broad.mit.edu 37 19 17893892 17893892 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:17893892C>T uc010ebb.2 + 23 2193 c.2004C>T c.(2002-2004)AGC>AGT p.S668S FCHO1_uc002nhg.3_Silent_p.S668S|FCHO1_uc002nhh.2_Silent_p.S668S|FCHO1_uc010xpw.1_Silent_p.S618S|FCHO1_uc002nhi.2_Silent_p.S124S|FCHO1_uc002nhj.2_Silent_p.S12S NM_001161358 NP_001154830 O14526 FCHO1_HUMAN FCH domain only 1 isoform b 668 breast(1) 1 GTGTGTTCAGCGGGACCCCAC 0.592 LSM4 25804 broad.mit.edu 37 19 18420588 18420588 + Silent SNP G G A rs138296949 byFrequency TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:18420588G>A uc002niq.2 - 4 399 c.228C>T c.(226-228)ATC>ATT p.I76I NM_012321 NP_036453 Q9Y4Z0 LSM4_HUMAN U6 snRNA-associated Sm-like protein 4 76 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing cytosol|U6 snRNP protein binding|RNA binding 0 TGACCATGTCGATGATCTCGT 0.677 TMEM161A 54929 broad.mit.edu 37 19 19240983 19240983 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:19240983C>T uc002nlg.2 - 6 607 c.577G>A c.(577-579)GAG>AAG p.E193K TMEM161A_uc010eca.2_RNA|TMEM161A_uc002nlh.2_Missense_Mutation_p.E168K|TMEM161A_uc002nli.2_Intron|TMEM161A_uc002nlj.2_Missense_Mutation_p.E68K NM_017814 NP_060284 Q9NX61 T161A_HUMAN transmembrane protein 161A precursor 193 Cytoplasmic (Potential). cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid integral to membrane breast(2) 2 OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011) AGGCCCAGCTCGAGGGTCTCC 0.632 SF4 57794 broad.mit.edu 37 19 19391027 19391027 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:19391027G>A uc002nmh.2 - 9 1319 c.1317C>T c.(1315-1317)GAC>GAT p.D439D SF4_uc002nmf.2_Translation_Start_Site|SF4_uc002nmg.2_Translation_Start_Site|SF4_uc002nmi.2_Silent_p.D229D|SF4_uc002nmj.2_Silent_p.D229D|SF4_uc002nme.2_Translation_Start_Site NM_172231 NP_757386 Q8IWZ8 SUGP1_HUMAN splicing factor 4 439 nuclear mRNA splicing, via spliceosome nucleoplasm|spliceosomal complex RNA binding 0 TCTTCTGGGCGTCTGAAAGCT 0.592 ZNF208 7757 broad.mit.edu 37 19 22154680 22154680 + Silent SNP A A C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:22154680A>C uc002nqp.2 - 6 2921 c.2772T>G c.(2770-2772)GCT>GCG p.A924A 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) GTTTTTCTCCAGCATGAGTTG 0.453 ZNF676 163223 broad.mit.edu 37 19 22363176 22363176 + Missense_Mutation SNP G G C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:22363176G>C uc002nqs.1 - 3 1661 c.1343C>G c.(1342-1344)CCC>CGC p.P448R NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 448 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) ACATTTGTAGGGTTTCTCTCC 0.433 TSHZ3 57616 broad.mit.edu 37 19 31769550 31769550 + Silent SNP C C T rs148943651 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:31769550C>T uc002nsy.3 - 2 1214 c.1149G>A c.(1147-1149)TCG>TCA p.S383S NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 383 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) TCAGGATCTGCGACTTCCGGG 0.547 RHPN2 85415 broad.mit.edu 37 19 33482843 33482843 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:33482843C>T uc002nuf.2 - 13 1596 c.1530G>A c.(1528-1530)CGG>CGA p.R510R RHPN2_uc010xro.1_Silent_p.R359R|RHPN2_uc002nue.2_Silent_p.R240R NM_033103 NP_149094 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 510 signal transduction perinuclear region of cytoplasm protein binding central_nervous_system(5)|ovary(1) 6 Esophageal squamous(110;0.137) GAGGCGTCCACCGCTTGTTAG 0.532 PEPD 5184 broad.mit.edu 37 19 33968960 33968960 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:33968960G>A uc002nur.3 - 7 675 c.540C>T c.(538-540)ATC>ATT p.I180I PEPD_uc010xrr.1_Silent_p.I180I|PEPD_uc010xrs.1_Silent_p.I116I NM_000285 NP_000276 P12955 PEPD_HUMAN prolidase isoform 1 180 cellular amino acid metabolic process|collagen catabolic process|proteolysis aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity ovary(2) 2 Esophageal squamous(110;0.137) ACCACTCAACGATCTCTGGGT 0.512 GPI 2821 broad.mit.edu 37 19 34890536 34890536 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:34890536G>A uc002nvg.1 + 16 1577 c.1474G>A c.(1474-1476)GCC>ACC p.A492T GPI_uc002nvf.2_Missense_Mutation_p.A531T|GPI_uc010xrv.1_Missense_Mutation_p.A503T|GPI_uc010xrw.1_Missense_Mutation_p.A464T|GPI_uc010edl.1_Intron|GPI_uc002nvi.1_Missense_Mutation_p.A155T NM_000175 NP_000166 P06744 G6PI_HUMAN glucose phosphate isomerase 492 angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity ovary(1)|kidney(1) 2 Esophageal squamous(110;0.162) AGCCTTGGTCGGTGAGTGAGT 0.517 GRAMD1A 57655 broad.mit.edu 37 19 35514240 35514240 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:35514240G>A uc010xse.1 + 18 2091 c.1954G>A c.(1954-1956)GCC>ACC p.A652T GRAMD1A_uc002nxk.2_Missense_Mutation_p.A641T|GRAMD1A_uc002nxl.2_Missense_Mutation_p.A414T|GRAMD1A_uc010xsf.1_Missense_Mutation_p.A653T|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_Missense_Mutation_p.A263T NM_020895 NP_065946 Q96CP6 GRM1A_HUMAN GRAM domain containing 1A isoform 1 652 integral to membrane 0 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) CCTGGCCCTGGCCAAGGGGTG 0.642 USF2 7392 broad.mit.edu 37 19 35761384 35761384 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:35761384G>A uc002nyq.1 + 5 573 c.464G>A c.(463-465)AGT>AAT p.S155N USF2_uc010xss.1_Missense_Mutation_p.S155N|USF2_uc002nyr.1_Missense_Mutation_p.S88N|USF2_uc002nys.1_5'UTR|USF2_uc002nyt.1_Intron|USF2_uc002nyu.1_5'UTR|USF2_uc002nyv.1_5'UTR NM_003367 NP_003358 Q15853 USF2_HUMAN upstream stimulatory factor 2 isoform 1 155 lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose nucleus bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity 0 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) AATGGTGGCAGTCCGGCGGCC 0.592 USF2 7392 broad.mit.edu 37 19 35761690 35761690 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:35761690G>A uc002nyq.1 + 6 759 c.650G>A c.(649-651)CGG>CAG p.R217Q USF2_uc010xss.1_Missense_Mutation_p.R217Q|USF2_uc002nyr.1_Missense_Mutation_p.R150Q|USF2_uc002nys.1_Missense_Mutation_p.R19Q|USF2_uc002nyt.1_Missense_Mutation_p.R86Q|USF2_uc002nyu.1_Missense_Mutation_p.R19Q|USF2_uc002nyv.1_Missense_Mutation_p.R19Q NM_003367 NP_003358 Q15853 USF2_HUMAN upstream stimulatory factor 2 isoform 1 217 lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose nucleus bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity 0 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) ATCGCCCCCCGGACACACCCT 0.582 CD22 933 broad.mit.edu 37 19 35828791 35828791 + Silent SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:35828791C>A uc010edt.2 + 5 929 c.852C>A c.(850-852)ACC>ACA p.T284T CD22_uc010xst.1_Silent_p.T112T|CD22_uc010edu.2_Silent_p.T284T|CD22_uc010edv.2_Silent_p.T284T|CD22_uc002nzb.3_Intron|CD22_uc010edx.2_RNA NM_001771 NP_001762 P20273 CD22_HUMAN CD22 molecule precursor 284 Extracellular (Potential).|Ig-like C2-type 2. cell adhesion protein binding|sugar binding ovary(5)|lung(3)|breast(1) 9 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) AGGATGGGACCTCGCTGAAGA 0.577 MLL4 9757 broad.mit.edu 37 19 36223276 36223276 + Silent SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:36223276C>A uc010eei.2 + 29 5826 c.5826C>A c.(5824-5826)CCC>CCA p.P1942P NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 1942 chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TCAGGGTGCCCCCTCCTACCT 0.687 NFKBID 84807 broad.mit.edu 37 19 36387021 36387021 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:36387021G>A uc002oci.1 - 9 1041 c.467C>T c.(466-468)CCG>CTG p.P156L NFKBID_uc002och.1_5'UTR|NFKBID_uc002ocj.1_Missense_Mutation_p.P171L NM_139239 NP_640332 Q8NI38 IKBD_HUMAN nuclear factor of kappa light polypeptide gene 156 ANK 4. inflammatory response nucleus 0 CGTGTGGAGCGGGGTGAGGCC 0.647 CLIP3 25999 broad.mit.edu 37 19 36508783 36508783 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:36508783C>T uc010eeq.1 - 9 1576 c.1294G>A c.(1294-1296)GTG>ATG p.V432M uc002ocy.2_Intron|CLIP3_uc002ocz.1_Missense_Mutation_p.V432M NM_015526 NP_056341 Q96DZ5 CLIP3_HUMAN CAP-GLY domain containing linker protein 3 432 chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane ganglioside binding|microtubule binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TAGAAGCGCACGATCCCCTGC 0.642 ZNF568 374900 broad.mit.edu 37 19 37441545 37441545 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:37441545C>T uc002ofc.2 + 7 2005 c.1490C>T c.(1489-1491)ACG>ATG p.T497M ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.T421M|ZNF568_uc010efe.2_Missense_Mutation_p.T421M|ZNF568_uc010eff.1_Intron NM_198539 NP_940941 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 497 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AGAATTCATACGGGTGAGAAA 0.388 ZNF420 147923 broad.mit.edu 37 19 37618976 37618976 + Missense_Mutation SNP A A C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:37618976A>C uc002ofl.2 + 5 1298 c.1083A>C c.(1081-1083)AAA>AAC p.K361N NM_144689 NP_653290 Q8TAQ5 ZN420_HUMAN zinc finger protein 420 361 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CTGGTGAAAAACCCTATAAAT 0.418 ZNF527 84503 broad.mit.edu 37 19 37879380 37879380 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:37879380G>A uc010efk.1 + 5 540 c.429G>A c.(427-429)GCG>GCA p.A143A ZNF527_uc002ogf.3_Silent_p.A111A|ZNF527_uc010xtq.1_RNA NM_032453 NP_115829 Q8NB42 ZN527_HUMAN zinc finger protein 527 143 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AGGGAAATGCGGAGAGGCATT 0.428 YIF1B 90522 broad.mit.edu 37 19 38798088 38798088 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:38798088C>T uc002ohz.2 - 7 818 c.769G>A c.(769-771)GTA>ATA p.V257I YIF1B_uc002ohw.2_Missense_Mutation_p.V226I|YIF1B_uc002ohx.2_Missense_Mutation_p.V242I|YIF1B_uc010xtx.1_Missense_Mutation_p.V240I|YIF1B_uc010xty.1_Missense_Mutation_p.V226I|YIF1B_uc002oia.2_Missense_Mutation_p.V254I|YIF1B_uc002ohy.2_Missense_Mutation_p.V254I|YIF1B_uc002oib.2_Missense_Mutation_p.V254I NM_001039672 NP_001034761 Q5BJH7 YIF1B_HUMAN Yip1 interacting factor homolog B isoform 5 257 Helical; (Potential). integral to membrane 0 all_cancers(60;1.07e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) AAGATGGCTACGCAGCACCAG 0.622 PSMD8 5714 broad.mit.edu 37 19 38873894 38873894 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:38873894G>A uc002oii.3 + 7 969 c.917G>A c.(916-918)CGA>CAA p.R306Q NM_002812 NP_002803 P48556 PSMD8_HUMAN proteasome 26S non-ATPase subunit 8 306 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome regulatory particle protein binding central_nervous_system(1) 1 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TTCCTGCAGCGAGGGTGGGTC 0.567 RYR1 6261 broad.mit.edu 37 19 39068584 39068584 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:39068584C>T uc002oit.2 + 98 14329 c.14199C>T c.(14197-14199)TAC>TAT p.Y4733Y RYR1_uc002oiu.2_Silent_p.Y4728Y NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 4733 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GGGACATCTACGGGCGGGAGC 0.607 PLEKHG2 64857 broad.mit.edu 37 19 39913533 39913533 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:39913533C>T uc010xuz.1 + 18 2164 c.1839C>T c.(1837-1839)CAC>CAT p.H613H PLEKHG2_uc010xuy.1_Silent_p.H554H|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Silent_p.H391H NM_022835 NP_073746 Q9H7P9 PKHG2_HUMAN common-site lymphoma/leukemia guanine nucleotide 613 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity skin(2)|pancreas(1)|breast(1) 4 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) CCCCACTCCACGTCCTGGAAG 0.577 PSMC4 5704 broad.mit.edu 37 19 40485741 40485741 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:40485741G>A uc002omq.2 + 7 728 c.691G>A c.(691-693)GTG>ATG p.V231M PSMC4_uc002omr.2_Missense_Mutation_p.V200M NM_006503 NP_006494 P43686 PRS6B_HUMAN proteasome 26S ATPase subunit 4 isoform 1 231 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding ovary(1) 1 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) CATCCGGGTCGTGGGCTCGGA 0.552 AKT2 208 broad.mit.edu 37 19 40747883 40747883 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:40747883C>T uc002onf.2 - 6 797 c.535G>A c.(535-537)GCC>ACC p.A179T AKT2_uc010egs.2_Missense_Mutation_p.A179T|AKT2_uc010egt.2_Missense_Mutation_p.A117T|AKT2_uc010xvj.1_Missense_Mutation_p.A117T|AKT2_uc010egu.1_Missense_Mutation_p.A117T|AKT2_uc010xvk.1_Missense_Mutation_p.A179T|AKT2_uc002one.2_Missense_Mutation_p.A75T NM_001626 NP_001617 P31751 AKT2_HUMAN AKT2 kinase 179 Protein kinase. insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity lung(2) 2 Lung(22;0.000499) ATCTTCATGGCGTAGTAGCGG 0.592 A ovarian|pancreatic C19orf47 126526 broad.mit.edu 37 19 40834366 40834366 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:40834366C>T uc002oni.3 - 6 505 c.504G>A c.(502-504)TCG>TCA p.S168S C19orf47_uc002ong.2_Silent_p.S27S|C19orf47_uc002onh.2_Silent_p.S101S NM_178830 NP_849152 Q8N9M1 CS047_HUMAN hypothetical protein LOC126526 168 ovary(1)|skin(1) 2 Lung(22;0.000636) ACACAGTGACCGAGATCTTGG 0.607 LTBP4 8425 broad.mit.edu 37 19 41135394 41135394 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:41135394G>A uc002ooh.1 + 34 4814 c.4814G>A c.(4813-4815)CGC>CAC p.R1605H LTBP4_uc002oog.1_Missense_Mutation_p.R1568H|LTBP4_uc002ooi.1_Missense_Mutation_p.R1538H|LTBP4_uc002ooj.1_Missense_Mutation_p.R478H|LTBP4_uc002ool.1_Missense_Mutation_p.R617H|LTBP4_uc010xvp.1_Missense_Mutation_p.R365H NM_001042544 NP_001036009 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding 1605 EGF-like 16. growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) TGCATCTGCCGCCCGGGATTC 0.721 CCDC97 90324 broad.mit.edu 37 19 41822537 41822537 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:41822537C>T uc002oqg.2 + 2 417 c.295C>T c.(295-297)CTG>TTG p.L99L CYP2F1_uc010xvw.1_Intron NM_052848 NP_443080 Q96F63 CCD97_HUMAN coiled-coil domain containing 97 99 0 CCTGGCCCAGCTGTACCACGA 0.637 ZNF574 64763 broad.mit.edu 37 19 42583781 42583781 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:42583781C>T uc002osm.3 + 2 1192 c.1023C>T c.(1021-1023)TGC>TGT p.C341C ZNF574_uc002osk.3_Silent_p.C431C NM_022752 NP_073589 Q6ZN55 ZN574_HUMAN zinc finger protein 574 341 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.059) GCCCCCTGTGCAGTCGTGTCT 0.597 ERF 2077 broad.mit.edu 37 19 42752741 42752741 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:42752741C>A uc002ote.3 - 4 1681 c.1523G>T c.(1522-1524)GGT>GTT p.G508V ERF_uc002otd.3_Missense_Mutation_p.G239V NM_006494 NP_006485 P50548 ERF_HUMAN Ets2 repressor factor 508 cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity lung(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Prostate(69;0.00682) CTTGTCCTCACCCTCATCCTC 0.682 PSG5 5673 broad.mit.edu 37 19 43680089 43680089 + Silent SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:43680089G>T uc002ovu.2 - 3 773 c.642C>A c.(640-642)CCC>CCA p.P214P PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Intron|PSG5_uc002ovx.2_Silent_p.P214P|PSG5_uc002ovv.2_Silent_p.P307P|PSG5_uc002ovw.2_Intron NM_002781 NP_002772 Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 214 Ig-like C2-type 1. female pregnancy extracellular region skin(3) 3 Prostate(69;0.00899) CACATTCATAGGGTCCTGTTT 0.522 XRCC1 7515 broad.mit.edu 37 19 44048331 44048331 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:44048331C>T uc002owt.2 - 15 1797 c.1677G>A c.(1675-1677)CGG>CGA p.R559R XRCC1_uc010xwp.1_Silent_p.R528R NM_006297 NP_006288 P18887 XRCC1_HUMAN X-ray repair cross complementing protein 1 559 BRCT 2. base-excision repair|single strand break repair nucleoplasm damaged DNA binding|protein binding ovary(2)|lung(2)|large_intestine(1)|prostate(1)|breast(1) 7 Prostate(69;0.0153) TGAGTTTCCGCCGCTCGTCCC 0.582 Other_BER_factors CADM4 199731 broad.mit.edu 37 19 44131398 44131398 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:44131398C>T uc002oxc.1 - 3 333 c.284G>A c.(283-285)CGC>CAC p.R95H NM_145296 NP_660339 Q8NFZ8 CADM4_HUMAN cell adhesion molecule 4 precursor 95 Ig-like V-type.|Extracellular (Potential). cell adhesion integral to membrane 0 Prostate(69;0.0199) GTCCTCCAGGCGGGCATCTGA 0.602 IRGC 56269 broad.mit.edu 37 19 44223276 44223276 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:44223276C>T uc002oxh.2 + 2 713 c.566C>T c.(565-567)GCT>GTT p.A189V NM_019612 NP_062558 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 189 membrane GTP binding|hydrolase activity, acting on acid anhydrides ovary(1)|central_nervous_system(1)|skin(1) 3 Prostate(69;0.0435) AGAGAGGCCGCTGTCCTGCAG 0.682 ZNF226 7769 broad.mit.edu 37 19 44676240 44676240 + Splice_Site SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:44676240G>T uc002oyp.2 + 4 160 c.16_splice c.e4-1 p.E6_splice ZNF226_uc002oyn.2_Splice_Site_p.E6_splice|ZNF226_uc002oyo.2_Splice_Site_p.E6_splice|ZNF226_uc002oyq.2_Splice_Site|ZNF226_uc002oyr.2_Splice_Site|ZNF226_uc010ejg.2_Splice_Site_p.E6_splice|ZNF226_uc002oys.2_Splice_Site_p.E6_splice|ZNF226_uc002oyt.2_Splice_Site_p.E6_splice NM_001032373 NP_001027545 Q9NYT6 ZN226_HUMAN zinc finger protein 226 isoform a regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352)|all_neural(266;0.202) TTTTGTCGTAGGAAGCAGTGA 0.522 CLPTM1 1209 broad.mit.edu 37 19 45490450 45490450 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:45490450C>T uc002pai.2 + 8 822 c.807C>T c.(805-807)GAC>GAT p.D269D CLPTM1_uc010ejv.1_Silent_p.D167D|CLPTM1_uc010xxf.1_Silent_p.D167D|CLPTM1_uc010xxg.1_Silent_p.D255D NM_001294 NP_001285 O96005 CLPT1_HUMAN cleft lip and palate associated transmembrane 269 Extracellular (Potential). cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane ovary(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) TGAAGTTCGACGCCGTGAGCG 0.602 ERCC2 2068 broad.mit.edu 37 19 45855905 45855905 + Silent SNP C C T rs145835916 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:45855905C>T uc002pbj.2 - 21 1952 c.1905G>A c.(1903-1905)GCG>GCA p.A635A ERCC2_uc002pbh.2_Silent_p.A198A|ERCC2_uc002pbi.2_Silent_p.A328A|ERCC2_uc010ejz.2_Silent_p.A557A|ERCC2_uc002pbk.2_Silent_p.A611A NM_000400 NP_000391 P18074 ERCC2_HUMAN excision repair cross-complementing rodent 635 Mediates interaction with MMS19. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding lung(2)|pancreas(1) 3 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) ATTCCAGCCGCGCCTGCAGAT 0.597 Mis|N|F|S skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum FOXA3 3171 broad.mit.edu 37 19 46376101 46376101 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:46376101A>G uc002pdr.2 + 2 1035 c.838A>G c.(838-840)ACA>GCA p.T280A NM_004497 NP_004488 P55318 FOXA3_HUMAN forkhead box A3 280 brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific 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|transcription regulatory region DNA binding breast(1) 1 Ovarian(192;0.0308)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236) CGCTTCCTCCACACCCTATTT 0.632 IGFL4 444882 broad.mit.edu 37 19 46543646 46543646 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:46543646C>T uc002pdy.1 - 3 153 c.99G>A c.(97-99)GCG>GCA p.A33A NM_001002923 NP_001002923 Q6B9Z1 IGFL4_HUMAN IGF-like family member 4 precursor 33 extracellular region 0 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208) CGCACCTGGGCGCTGGCTGGC 0.602 PPP5C 5536 broad.mit.edu 37 19 46857048 46857048 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:46857048C>T uc002pem.2 + 2 225 c.165C>T c.(163-165)ATC>ATT p.I55I PPP5C_uc010xya.1_5'UTR|PPP5C_uc002pen.2_Silent_p.I55I NM_006247 NP_006238 P53041 PPP5_HUMAN protein phosphatase 5, catalytic subunit 55 TPR 1. mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent Golgi apparatus|nucleus metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity lung(1)|pancreas(1) 2 Ovarian(192;0.0731)|all_neural(266;0.196) OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504) GCCAGGCCATCGAGCTGAACC 0.617 PNMAL1 55228 broad.mit.edu 37 19 46973945 46973945 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:46973945G>A uc002peq.3 - 2 654 c.348C>T c.(346-348)GCC>GCT p.A116A PNMAL1_uc002per.3_Silent_p.A116A NM_018215 NP_060685 Q86V59 PNML1_HUMAN PNMA-like 1 isoform a 116 0 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) tgcgcccctcggcatccagga 0 GRLF1 2909 broad.mit.edu 37 19 47422067 47422067 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:47422067G>A uc010ekv.2 + 1 135 c.135G>A c.(133-135)CCG>CCA p.P45P NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 45 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) TCGTGCGCCCGAGTGCTGACG 0.532 PLEKHA4 57664 broad.mit.edu 37 19 49362226 49362226 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:49362226C>T uc002pkx.2 - 8 1414 c.863G>A c.(862-864)CGC>CAC p.R288H PLEKHA4_uc002pkw.1_Intron|PLEKHA4_uc010eml.2_Missense_Mutation_p.R288H NM_020904 NP_065955 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing family A 288 Pro-rich. cytoplasm|membrane 1-phosphatidylinositol binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) GAGGGTCTGGCGTTGGGGGCC 0.692 PLEKHA4 57664 broad.mit.edu 37 19 49368837 49368837 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:49368837C>T uc002pkx.2 - 3 666 c.115G>A c.(115-117)GCC>ACC p.A39T PLEKHA4_uc010eml.2_Missense_Mutation_p.A39T NM_020904 NP_065955 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing family A 39 cytoplasm|membrane 1-phosphatidylinositol binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) TTCCCAAAGGCGTGGATCTTG 0.587 RUVBL2 10856 broad.mit.edu 37 19 49510397 49510397 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:49510397C>T uc002plr.1 + 5 401 c.388C>T c.(388-390)CGC>TGC p.R130C RUVBL2_uc002plq.1_Missense_Mutation_p.R85C|RUVBL2_uc010yab.1_Missense_Mutation_p.R130C|RUVBL2_uc002pls.1_RNA|RUVBL2_uc010emn.1_Missense_Mutation_p.R85C|RUVBL2_uc010yac.1_Missense_Mutation_p.R85C NM_006666 NP_006657 Q9Y230 RUVB2_HUMAN RuvB-like 2 130 cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding 0 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047) CATCGGCGTTCGCATCAAGTA 0.657 KCNA7 3743 broad.mit.edu 37 19 49573446 49573446 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:49573446A>G uc002pmg.2 - 2 1601 c.1245T>C c.(1243-1245)CAT>CAC p.H415H NM_031886 NP_114092 Q96RP8 KCNA7_HUMAN potassium voltage-gated channel, shaker-related 415 voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1) 1 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441) GCATGTCCACATGGCTGAACA 0.602 PRMT1 3276 broad.mit.edu 37 19 50189896 50189896 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:50189896G>A uc010enf.1 + 10 987 c.945G>A c.(943-945)ACG>ACA p.T315T PRMT1_uc002ppc.1_RNA|PRMT1_uc002ppd.2_Silent_p.T291T|PRMT1_uc002ppe.2_Silent_p.T297T|PRMT1_uc002ppf.2_RNA|PRMT1_uc002ppg.2_Silent_p.T262T|PRMT1_uc010ybb.1_5'Flank|C19orf76_uc002pph.2_5'Flank NM_001536 NP_001527 Q8WUW5 Q8WUW5_HUMAN HMT1 hnRNP methyltransferase-like 2 isoform 1 296 cytoplasm protein methyltransferase activity ovary(1) 1 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012) GGAAGCAGACGGTGTTCTACA 0.687 ZNF473 25888 broad.mit.edu 37 19 50542512 50542512 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:50542512C>T uc002prn.2 + 3 341 c.104C>T c.(103-105)GCG>GTG p.A35V ZNF473_uc002prm.2_Missense_Mutation_p.A35V|ZNF473_uc010ybo.1_Missense_Mutation_p.A23V NM_001006656 NP_001006657 Q8WTR7 ZN473_HUMAN zinc finger protein 473 35 KRAB. histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) TGGGACACAGCGTTGGACAAT 0.582 ZNF473 25888 broad.mit.edu 37 19 50545072 50545072 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:50545072C>T uc002prn.2 + 4 459 c.222C>T c.(220-222)AGC>AGT p.S74S ZNF473_uc002prm.2_Silent_p.S74S|ZNF473_uc010ybo.1_Silent_p.S62S NM_001006656 NP_001006657 Q8WTR7 ZN473_HUMAN zinc finger protein 473 74 KRAB. histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) AAGCAACAAGCCCTGGTGAGT 0.587 GPR32 2854 broad.mit.edu 37 19 51274765 51274765 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:51274765C>T uc010ycf.1 + 1 908 c.908C>T c.(907-909)GCC>GTC p.A303V NM_001506 NP_001497 O75388 GPR32_HUMAN G protein-coupled receptor 32 303 Helical; Name=7; (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) GCTAGCTTTGCCTTGGGCTGT 0.542 ZNF761 388561 broad.mit.edu 37 19 53950474 53950474 + Translation_Start_Site SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:53950474C>T uc010eqp.2 + 4 411 c.-47C>T c.(-49--45)TACGT>TATGT ZNF761_uc002qbr.2_RNA|ZNF761_uc010ydy.1_Translation_Start_Site|ZNF761_uc002qbs.2_RNA|ZNF761_uc002qbt.1_5'Flank NM_001008401 NP_001008401 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00786) ACTCTTGGTACGTGAGGAAGA 0.433 MBOAT7 79143 broad.mit.edu 37 19 54682578 54682578 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:54682578C>T uc002qdq.2 - 8 1201 c.935G>A c.(934-936)CGG>CAG p.R312Q MBOAT7_uc010erg.2_5'UTR|MBOAT7_uc010yem.1_Missense_Mutation_p.R294Q|MBOAT7_uc002qdr.2_Missense_Mutation_p.R312Q|MBOAT7_uc002qds.2_Missense_Mutation_p.R239Q|MBOAT7_uc010yen.1_Missense_Mutation_p.R239Q|MBOAT7_uc002qdt.3_Missense_Mutation_p.R312Q NM_024298 NP_077274 Q96N66 MBOA7_HUMAN membrane bound O-acyltransferase domain 312 phospholipid biosynthetic process integral to membrane acyltransferase activity 0 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) ATCGCGCACCCGCACGCAGAA 0.587 LILRB3 11025 broad.mit.edu 37 19 54720983 54720983 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:54720983G>A uc002qef.1 - 13 1986 c.1875C>T c.(1873-1875)TAC>TAT p.Y625Y LILRB3_uc002qee.1_Silent_p.Y626Y|LILRB3_uc002qeh.1_Silent_p.Y625Y|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Silent_p.Y625Y|LILRA6_uc002qek.1_Silent_p.Y626Y|LILRB3_uc010erh.1_Silent_p.Y642Y|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Silent_p.Y625Y|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Silent_p.Y626Y|LILRB3_uc002qep.1_Silent_p.Y626Y|LILRB3_uc002qeq.1_Silent_p.Y625Y|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Silent_p.Y626Y NM_006864 NP_006855 O75022 LIRB3_HUMAN leukocyte immunoglobulin-like receptor, 625 ITIM motif 3.|Cytoplasmic (Potential). cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity skin(2)|ovary(1) 3 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CCAGAGTGGCGTAGATGCTGG 0.627 NCR1 9437 broad.mit.edu 37 19 55420752 55420752 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:55420752C>T uc002qib.2 + 4 542 c.504C>T c.(502-504)TAC>TAT p.Y168Y NCR1_uc002qic.2_Silent_p.Y168Y|NCR1_uc002qie.2_Silent_p.Y168Y|NCR1_uc002qid.2_Silent_p.Y73Y|NCR1_uc002qif.2_Silent_p.Y73Y|NCR1_uc010esj.2_Silent_p.Y61Y NM_004829 NP_004820 O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 168 Extracellular (Potential).|Ig-like 2. cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(193;0.0449) AGCGCGGATACGGGAAGGTCC 0.567 NLRP2 55655 broad.mit.edu 37 19 55494974 55494974 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:55494974C>T uc002qij.2 + 6 1994 c.1908C>T c.(1906-1908)GAC>GAT p.D636D NLRP2_uc010yfp.1_Silent_p.D613D|NLRP2_uc010esn.2_Silent_p.D612D|NLRP2_uc010eso.2_Silent_p.D633D|NLRP2_uc010esp.2_Silent_p.D614D NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 636 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) ATGCAGTAGACGTTGTGCCAT 0.498 NLRP9 338321 broad.mit.edu 37 19 56243922 56243922 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:56243922G>A uc002qly.2 - 2 1303 c.1275C>T c.(1273-1275)GGC>GGT p.G425G NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 425 NACHT. G -> D (in a breast cancer sample; somatic mutation). cytoplasm ATP binding p.G425D(1) skin(4)|ovary(2)|breast(1) 7 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) CCCACATCACGCCCTCAGACT 0.473 PEG3 5178 broad.mit.edu 37 19 57333110 57333110 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:57333110C>T uc002qnu.2 - 4 929 c.578G>A c.(577-579)CGG>CAG p.R193Q ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_Missense_Mutation_p.R68Q|ZIM2_uc002qnq.2_Missense_Mutation_p.R68Q|ZIM2_uc010etp.2_Missense_Mutation_p.R68Q|ZIM2_uc010ygs.1_Missense_Mutation_p.R68Q|PEG3_uc002qnt.2_Missense_Mutation_p.R194Q|PEG3_uc002qnv.2_Missense_Mutation_p.R193Q|PEG3_uc002qnw.2_Missense_Mutation_p.R68Q|PEG3_uc002qnx.2_Missense_Mutation_p.R67Q|PEG3_uc010etr.2_Missense_Mutation_p.R193Q NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 193 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R193W(1) ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GGAAAGATCCCGCGGAGGCAT 0.542 ZNF543 125919 broad.mit.edu 37 19 57839932 57839932 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:57839932G>A uc002qoi.1 + 4 1447 c.1102G>A c.(1102-1104)GAA>AAA p.E368K NM_213598 NP_998763 Q08ER8 ZN543_HUMAN zinc finger protein 543 368 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1)|pancreas(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GAAACCCTTTGAATGCAACGA 0.507 ZNF17 7565 broad.mit.edu 37 19 57931842 57931842 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:57931842C>T uc002qoo.1 + 3 1213 c.982C>T c.(982-984)CGG>TGG p.R328W ZNF547_uc002qpm.3_Intron|ZNF17_uc002qop.1_Missense_Mutation_p.R330W NM_006959 NP_008890 P17021 ZNF17_HUMAN zinc finger protein 17 328 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176) TACTGGAGAACGGCCTTATGG 0.443 ZNF549 256051 broad.mit.edu 37 19 58048866 58048866 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:58048866G>T uc002qpb.1 + 4 743 c.494G>T c.(493-495)AGC>ATC p.S165I ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Missense_Mutation_p.S152I NM_153263 NP_694995 Q6P9A3 ZN549_HUMAN zinc finger protein 549 165 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AAGGAGGAGAGCAGTGCCTTG 0.463 ZNF416 55659 broad.mit.edu 37 19 58083691 58083691 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:58083691G>A uc002qpf.2 - 4 1752 c.1581C>T c.(1579-1581)TGC>TGT p.C527C ZNF547_uc002qpm.3_Intron NM_017879 NP_060349 Q9BWM5 ZN416_HUMAN zinc finger protein 416 527 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) AGGATTTCCCGCACTGTCCAC 0.438 SLC27A5 10998 broad.mit.edu 37 19 59011792 59011792 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:59011792A>G uc002qtc.2 - 6 1492 c.1382T>C c.(1381-1383)CTG>CCG p.L461P SLC27A5_uc002qtb.2_5'Flank NM_012254 NP_036386 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid 461 Cytoplasmic (Probable). bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity 0 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) AAAGGGGGACAGCATCTGGGG 0.622 TPO 7173 broad.mit.edu 37 2 1459959 1459959 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:1459959G>A uc002qww.2 + 7 815 c.724G>A c.(724-726)GCG>ACG p.A242T TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.A242T|TPO_uc002qwr.2_Missense_Mutation_p.A242T|TPO_uc002qwx.2_Missense_Mutation_p.A242T|TPO_uc010yio.1_Missense_Mutation_p.A242T|TPO_uc010yip.1_Missense_Mutation_p.A242T NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 242 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity p.A242A(1) ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CCACGACATCGCGTTCACACC 0.498 MBOAT2 129642 broad.mit.edu 37 2 9017344 9017344 + Splice_Site SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:9017344C>A uc002qzg.1 - 7 640 c.507_splice c.e7-1 p.R169_splice MBOAT2_uc010yix.1_Splice_Site_p.R169_splice NM_138799 NP_620154 Q6ZWT7 MBOA2_HUMAN O-acyltransferase (membrane bound) domain phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TGGCATGCGCCTGCAATGAAA 0.428 HPCAL1 3241 broad.mit.edu 37 2 10560003 10560003 + Silent SNP C C T rs143370055 byFrequency TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:10560003C>T uc002raj.2 + 3 494 c.120C>T c.(118-120)ACC>ACT p.T40T HPCAL1_uc002rak.2_Silent_p.T40T|HPCAL1_uc002ral.2_Silent_p.T40T|HPCAL1_uc010exe.2_RNA|HPCAL1_uc010exf.2_Silent_p.T40T NM_002149 NP_002140 P37235 HPCL1_HUMAN hippocalcin-like 1 40 EF-hand 1. calcium ion binding pancreas(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.214) ACTGCCCCACCGGCCACCTGA 0.622 GREB1 9687 broad.mit.edu 37 2 11756801 11756801 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:11756801C>T uc002rbk.1 + 21 3667 c.3367C>T c.(3367-3369)CGC>TGC p.R1123C GREB1_uc002rbp.1_Missense_Mutation_p.R121C NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1123 Ser-rich. integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) GGAGAGGTCCCGCTCCCACGA 0.493 KCNS3 3790 broad.mit.edu 37 2 18112315 18112315 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:18112315G>A uc002rcv.2 + 3 491 c.40G>A c.(40-42)GAG>AAG p.E14K KCNS3_uc002rcw.2_Missense_Mutation_p.E14K NM_002252 NP_002243 Q9BQ31 KCNS3_HUMAN potassium voltage-gated channel 14 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity ovary(4) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TGGACAAGACGAGGAACTTGT 0.537 SDC1 6382 broad.mit.edu 37 2 20402951 20402951 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:20402951C>T uc002rdo.1 - 4 959 c.660G>A c.(658-660)ACG>ACA p.T220T SDC1_uc002rdp.1_Silent_p.T220T|SDC1_uc010exv.2_Intron NM_002997 NP_002988 P18827 SDC1_HUMAN syndecan 1 precursor 220 Extracellular (Potential). lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development cytoplasm|extracellular region|focal adhesion|integral to plasma membrane cytoskeletal protein binding|protein C-terminus binding ovary(4)|skin(1) 5 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) OV - Ovarian serous cystadenocarcinoma(76;0.221) CCACTACAGCCGTATTCTCCC 0.647 KIF3C 3797 broad.mit.edu 37 2 26203351 26203351 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:26203351C>T uc002rgu.2 - 1 2093 c.1436G>A c.(1435-1437)CGC>CAC p.R479H KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Missense_Mutation_p.R479H NM_002254 NP_002245 O14782 KIF3C_HUMAN kinesin family member 3C 479 Potential. blood coagulation|microtubule-based movement cytosol|kinesin complex|microtubule ATP binding|microtubule motor activity ovary(3)|skin(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CACCAGGCTGCGGTCATCCTG 0.607 EPT1 85465 broad.mit.edu 37 2 26606214 26606214 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:26606214A>G uc010ykz.1 + 7 877 c.730A>G c.(730-732)AGA>GGA p.R244G EPT1_uc010eyl.1_RNA NM_033505 NP_277040 Q9C0D9 EPT1_HUMAN selenoprotein I 244 phospholipid biosynthetic process integral to membrane ethanolaminephosphotransferase activity|metal ion binding 0 AAACTTTTTCAGGTAAGTATT 0.289 OTOF 9381 broad.mit.edu 37 2 26693574 26693574 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:26693574C>T uc002rhk.2 - 32 4037 c.3910G>A c.(3910-3912)GAG>AAG p.E1304K OTOF_uc010yla.1_Missense_Mutation_p.E34K|OTOF_uc002rhh.2_Missense_Mutation_p.E537K|OTOF_uc002rhi.2_Missense_Mutation_p.E614K|OTOF_uc002rhj.2_Missense_Mutation_p.E537K NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 1304 Cytoplasmic (Potential).|Poly-Lys. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ttcttcttctccttctcctcc 0.512 KCNK3 3777 broad.mit.edu 37 2 26950703 26950703 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:26950703G>A uc002rhn.2 + 2 615 c.452G>A c.(451-453)CGC>CAC p.R151H NM_002246 NP_002237 O14649 KCNK3_HUMAN potassium channel, subfamily K, member 3 151 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCATGCGGCGCGCCGACGTG 0.647 DPYSL5 56896 broad.mit.edu 37 2 27150265 27150265 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:27150265C>T uc002rhu.3 + 4 723 c.565C>T c.(565-567)CGC>TGC p.R189C DPYSL5_uc002rhv.3_Missense_Mutation_p.R189C NM_020134 NP_064519 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 189 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides ovary(2) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCAATCGCCCGCGTCCATGC 0.532 AGBL5 60509 broad.mit.edu 37 2 27278613 27278613 + Silent SNP G G A rs140050281 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:27278613G>A uc002rie.2 + 7 1189 c.972G>A c.(970-972)CCG>CCA p.P324P AGBL5_uc002ric.2_Silent_p.P324P|AGBL5_uc002rid.2_Silent_p.P324P|AGBL5_uc002rif.2_RNA NM_021831 NP_068603 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 isoform 1 324 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCTGCACCCGGCCATCTATG 0.552 AGBL5 60509 broad.mit.edu 37 2 27282079 27282079 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:27282079C>T uc002rie.2 + 11 2113 c.1896C>T c.(1894-1896)TCC>TCT p.S632S AGBL5_uc002rid.2_Silent_p.S632S|AGBL5_uc002rif.2_RNA NM_021831 NP_068603 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 isoform 1 632 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCTCCTGCTCCGAAAACACCT 0.537 IFT172 26160 broad.mit.edu 37 2 27679392 27679392 + Silent SNP G G A rs76787560 byFrequency TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:27679392G>A uc002rku.2 - 30 3408 c.3357C>T c.(3355-3357)CAC>CAT p.H1119H IFT172_uc010ezb.2_5'Flank NM_015662 NP_056477 Q9UG01 IF172_HUMAN selective LIM binding factor homolog 1119 cilium assembly cilium binding large_intestine(1)|ovary(1) 2 Acute lymphoblastic leukemia(172;0.155) TGTCTGCAGCGTGGTCAACAG 0.522 PLB1 151056 broad.mit.edu 37 2 28825712 28825712 + Missense_Mutation SNP G G A rs142314104 byFrequency TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:28825712G>A uc002rmb.1 + 39 2698 c.2698G>A c.(2698-2700)GTG>ATG p.V900M PLB1_uc010ezj.1_Missense_Mutation_p.V889M|PLB1_uc002rme.1_Translation_Start_Site|PLB1_uc002rmf.1_5'Flank NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN phospholipase B1 precursor 900 4 X 308-326 AA approximate repeats.|Extracellular (Potential).|3. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity ovary(4)|large_intestine(2)|skin(2)|breast(1) 9 Acute lymphoblastic leukemia(172;0.155) GGTCAACCTCGTGGACTTCCT 0.612 C2orf71 388939 broad.mit.edu 37 2 29295029 29295029 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:29295029C>A uc002rmt.1 - 1 2099 c.2099G>T c.(2098-2100)GGG>GTG p.G700V NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN hypothetical protein LOC388939 700 response to stimulus|visual perception photoreceptor outer segment skin(1) 1 TGGAAGCTTCCCAGCTTTGCC 0.517 TMEM178 130733 broad.mit.edu 37 2 39931305 39931305 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:39931305C>T uc002rrt.2 + 2 510 c.485C>T c.(484-486)ACC>ATC p.T162I TMEM178_uc010fam.1_Missense_Mutation_p.T162I NM_152390 NP_689603 Q8NBL3 TM178_HUMAN transmembrane protein 178 precursor 162 Extracellular (Potential). integral to membrane 0 all_hematologic(82;0.248) TTAACCAAGACCATACAGCAA 0.458 ABCG8 64241 broad.mit.edu 37 2 44079930 44079930 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:44079930C>T uc002rtq.2 + 6 977 c.887C>T c.(886-888)GCG>GTG p.A296V ABCG8_uc010yoa.1_Missense_Mutation_p.A296V NM_022437 NP_071882 Q9H221 ABCG8_HUMAN ATP-binding cassette sub-family G member 8 296 ABC transporter.|Cytoplasmic (Potential). cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity skin(3)|ovary(1) 4 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TACTTAGGGGCGGCCCAGCAC 0.592 SRBD1 55133 broad.mit.edu 37 2 45778340 45778340 + Silent SNP A A C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:45778340A>C uc002rus.2 - 12 1675 c.1599T>G c.(1597-1599)CCT>CCG p.P533P SRBD1_uc010yoc.1_Silent_p.P52P NM_018079 NP_060549 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 533 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding central_nervous_system(1) 1 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) GCCCTGGAACAGGGCTTGTTA 0.398 SRBD1 55133 broad.mit.edu 37 2 45800478 45800478 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:45800478G>A uc002rus.2 - 9 1249 c.1173C>T c.(1171-1173)TGC>TGT p.C391C NM_018079 NP_060549 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 391 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding central_nervous_system(1) 1 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) GTCTCTTCTGGCACCTGTTCA 0.328 FSHR 2492 broad.mit.edu 37 2 49210115 49210115 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:49210115C>T uc002rww.2 - 8 678 c.604G>A c.(604-606)GAT>AAT p.D202N FSHR_uc002rwx.2_Missense_Mutation_p.D202N|FSHR_uc010fbn.2_Missense_Mutation_p.D176N NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 202 LRR 7.|Extracellular (Potential). female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) TTATTATTATCGCTTAGATTC 0.413 Gonadal_Dysgenesis_46_XX NRXN1 9378 broad.mit.edu 37 2 50318469 50318469 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:50318469T>C uc010fbp.2 - 3 1412 c.605A>G c.(604-606)TAC>TGC p.Y202C NRXN1_uc002rxb.3_Missense_Mutation_p.Y909C|NRXN1_uc010fbq.2_Missense_Mutation_p.Y1277C|NRXN1_uc002rxe.3_Missense_Mutation_p.Y1237C NM_138735 NP_620072 P58400 NRX1B_HUMAN neurexin 1 isoform beta precursor 202 Extracellular (Potential).|Laminin G-like. angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) ACCTGCAGGGTAGCGCTCGAT 0.448 NRXN1 9378 broad.mit.edu 37 2 50573961 50573961 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:50573961C>T uc010fbp.2 - 1 934 c.127G>A c.(127-129)GGC>AGC p.G43S NRXN1_uc002rxb.3_Intron|NRXN1_uc010fbq.2_Intron|NRXN1_uc002rxe.3_Intron|NRXN1_uc002rxc.1_Intron NM_138735 NP_620072 P58400 NRX1B_HUMAN neurexin 1 isoform beta precursor 43 angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CCTAGGAGGCCGCTGAGGGTG 0.522 USP34 9736 broad.mit.edu 37 2 61441428 61441428 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:61441428G>A uc002sbe.2 - 68 8471 c.8449C>T c.(8449-8451)CGC>TGC p.R2817C NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 2817 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) ACAATAAGGCGGATATTCTCT 0.428 B3GNT2 10678 broad.mit.edu 37 2 62450427 62450427 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:62450427A>G uc002sbs.2 + 2 1310 c.1072A>G c.(1072-1074)ATC>GTC p.I358V NM_006577 NP_006568 Q9NY97 B3GN2_HUMAN UDP-GlcNAc:betaGal 358 Lumenal (Potential). Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity ovary(1) 1 Lung NSC(7;0.031)|all_lung(7;0.0634) LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963) GACATTTGATATCGAGGAGAA 0.408 ANTXR1 84168 broad.mit.edu 37 2 69409628 69409628 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:69409628C>T uc002sfg.2 + 16 1545 c.1189C>T c.(1189-1191)CGT>TGT p.R397C NM_032208 NP_115584 Q9H6X2 ANTR1_HUMAN anthrax toxin receptor 1 isoform 1 precursor 397 Cytoplasmic (Potential). actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity ovary(2)|skin(2) 4 ATTTTAGGTTCGTTGGGGAGA 0.413 Familial_Infantile_Hemangioma ANXA4 307 broad.mit.edu 37 2 70039823 70039823 + Silent SNP C C T rs141776547 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:70039823C>T uc002sfr.3 + 8 743 c.516C>T c.(514-516)CTC>CTT p.L172L ANXA4_uc010yqn.1_RNA|ANXA4_uc002sfs.3_Silent_p.L150L|ANXA4_uc010yqo.1_Silent_p.L88L NM_001153 NP_001144 P09525 ANXA4_HUMAN annexin IV 170 anti-apoptosis|signal transduction cytoplasm calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity 0 ACGATGCTCTCGTGAGACAGG 0.453 CLEC4F 165530 broad.mit.edu 37 2 71043196 71043196 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:71043196C>A uc002shf.2 - 4 1394 c.1317G>T c.(1315-1317)CAG>CAT p.Q439H CLEC4F_uc010yqv.1_Missense_Mutation_p.Q439H NM_173535 NP_775806 Q8N1N0 CLC4F_HUMAN C-type lectin, superfamily member 13 439 Extracellular (Potential). endocytosis integral to membrane receptor activity|sugar binding ovary(5) 5 TCTGCTCCTGCTGGATTTCCA 0.517 VAX2 25806 broad.mit.edu 37 2 71148370 71148370 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:71148370C>T uc002shh.2 + 2 422 c.390C>T c.(388-390)CGC>CGT p.R130R NM_012476 NP_036608 Q9UIW0 VAX2_HUMAN ventral anterior homeobox 2 130 Homeobox. ectoderm development|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 TGGTGGGCCGCGAGCGCACTG 0.647 ZNF638 27332 broad.mit.edu 37 2 71591248 71591248 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:71591248G>A uc002shx.2 + 5 1902 c.1583G>A c.(1582-1584)CGT>CAT p.R528H ZNF638_uc010fec.2_Missense_Mutation_p.R634H|ZNF638_uc010yqw.1_Missense_Mutation_p.R107H|ZNF638_uc002shw.2_Missense_Mutation_p.R528H|ZNF638_uc002shy.2_Missense_Mutation_p.R528H|ZNF638_uc002shz.2_Missense_Mutation_p.R528H|ZNF638_uc002sia.2_Missense_Mutation_p.R528H|ZNF638_uc002sib.1_Missense_Mutation_p.R528H|ZNF638_uc010fed.2_5'Flank NM_014497 NP_055312 Q14966 ZN638_HUMAN zinc finger protein 638 528 Arg-rich. RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 ATTTGCCATCGTTTCATTTCT 0.433 LRRTM1 347730 broad.mit.edu 37 2 80529936 80529936 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:80529936C>T uc002sok.1 - 2 1279 c.1009G>A c.(1009-1011)GAT>AAT p.D337N CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 337 LRRCT.|Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 AAGTTGCCATCGTAGCGCCCC 0.657 HNSCC(69;0.2) PTCD3 55037 broad.mit.edu 37 2 86355071 86355071 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:86355071G>A uc002sqw.2 + 14 1170 c.1104G>A c.(1102-1104)TCG>TCA p.S368S PTCD3_uc002sqx.1_5'UTR NM_017952 NP_060422 Q96EY7 PTCD3_HUMAN pentatricopeptide repeat domain 3 precursor 368 PPR 6. mitochondrion protein binding ovary(1) 1 GAGAACCCTCGCTTGCAACAT 0.338 ZAP70 7535 broad.mit.edu 37 2 98351851 98351851 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:98351851C>T uc002syd.1 + 10 1428 c.1221C>T c.(1219-1221)GCC>GCT p.A407A ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Silent_p.A297A|ZAP70_uc002syf.1_Silent_p.A100A NM_001079 NP_001070 P43403 ZAP70_HUMAN zeta-chain associated protein kinase 70kDa 407 Protein kinase. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity lung(4)|upper_aerodigestive_tract(1)|ovary(1) 6 TCTGCCAGGCCGAGGCCCTCA 0.662 CNGA3 1261 broad.mit.edu 37 2 99008387 99008387 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:99008387G>A uc002syt.2 + 7 1044 c.627G>A c.(625-627)TCG>TCA p.S209S CNGA3_uc002syu.2_Silent_p.S191S|CNGA3_uc010fij.2_Silent_p.S213S NM_001298 NP_001289 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 isoform 209 signal transduction|visual perception integral to membrane cGMP binding ovary(5)|upper_aerodigestive_tract(1) 6 TGGACTACTCGGCAGATGTCC 0.597 LIPT1 51601 broad.mit.edu 37 2 99779031 99779031 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:99779031C>T uc002szm.3 + 4 951 c.611C>T c.(610-612)GCC>GTC p.A204V MRPL30_uc002szl.1_Intron|LIPT1_uc002szn.3_Missense_Mutation_p.A204V|LIPT1_uc002szo.3_Missense_Mutation_p.A204V|LIPT1_uc002szp.3_Missense_Mutation_p.A204V|LIPT1_uc002szq.3_Missense_Mutation_p.A204V|MRPL30_uc002szr.2_Intron NM_145198 NP_660199 Q9Y234 LIPT_HUMAN lipoyltransferase 1 precursor 204 lipid metabolic process|protein lipoylation mitochondrion acyltransferase activity 0 Lipoic Acid(DB00166) AGGAGCAATGCCACTGCTAGC 0.438 EIF5B 9669 broad.mit.edu 37 2 100013282 100013282 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:100013282G>A uc002tab.2 + 22 3498 c.3314G>A c.(3313-3315)CGA>CAA p.R1105Q EIF5B_uc010yvq.1_Missense_Mutation_p.R87Q NM_015904 NP_056988 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 1105 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity ovary(2)|pancreas(1) 3 TTTAATTCTCGAGATCCGATA 0.413 PDCL3 79031 broad.mit.edu 37 2 101188062 101188062 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:101188062T>C uc002tao.2 + 5 491 c.379T>C c.(379-381)TGT>CGT p.C127R NM_024065 NP_076970 Q9H2J4 PDCL3_HUMAN phosducin-like 3 127 apoptosis|interspecies interaction between organisms cytoplasm protein binding 0 AATTCCCCTCTGTGCCCTGAT 0.388 STEAP3 55240 broad.mit.edu 37 2 120020821 120020821 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:120020821C>T uc002tlp.2 + 6 1531 c.1374C>T c.(1372-1374)CTC>CTT p.L458L STEAP3_uc002tlq.2_Silent_p.L468L|STEAP3_uc002tlr.2_Silent_p.L458L|STEAP3_uc010fle.2_3'UTR NM_018234 NP_060704 Q658P3 STEA3_HUMAN dudulin 2 isoform b 458 Cytoplasmic (Potential). apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport endosome membrane|integral to membrane|multivesicular body electron carrier activity|flavin adenine dinucleotide binding|iron ion binding central_nervous_system(2)|skin(1) 3 GCCGCAGACTCGCCAGGATCC 0.632 INHBB 3625 broad.mit.edu 37 2 121107076 121107076 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:121107076G>A uc002tmn.2 + 2 896 c.850G>A c.(850-852)GAC>AAC p.D284N NM_002193 NP_002184 P09529 INHBB_HUMAN inhibin beta B subunit preproprotein 284 activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation extracellular region|perinuclear region of cytoplasm cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity pancreas(2)|skin(1) 3 Prostate(154;0.122) TCGGCTGGGCGACAGCAGGCA 0.647 IWS1 55677 broad.mit.edu 37 2 128281353 128281353 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:128281353T>C uc002ton.2 - 2 352 c.49A>G c.(49-51)ACC>GCC p.T17A IWS1_uc010yzl.1_RNA|IWS1_uc010fma.2_Intron NM_017969 NP_060439 Q96ST2 IWS1_HUMAN IWS1 homolog 17 transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) TGTACTGGGGTAGCACCACCA 0.418 TUBA3E 112714 broad.mit.edu 37 2 130951399 130951399 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:130951399C>T uc002tqv.2 - 4 1117 c.1016G>A c.(1015-1017)CGC>CAC p.R339H NM_207312 NP_997195 Q6PEY2 TBA3E_HUMAN tubulin, alpha 3e 339 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity skin(1) 1 Colorectal(110;0.1) CTGGATAGTGCGCTTGGTCTT 0.547 IMP4 92856 broad.mit.edu 37 2 131103825 131103825 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:131103825C>T uc002tra.1 + 8 758 c.741C>T c.(739-741)GTC>GTT p.V247V NM_033416 NP_219484 Q96G21 IMP4_HUMAN IMP4, U3 small nucleolar ribonucleoprotein, 247 Brix. rRNA processing|translation nucleolus|ribonucleoprotein complex aminoacyl-tRNA ligase activity|ATP binding|protein binding central_nervous_system(2) 2 Colorectal(110;0.1) TCACTGAGGTCGGGCCCCGCT 0.622 THSD7B 80731 broad.mit.edu 37 2 137852592 137852592 + Missense_Mutation SNP A A T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:137852592A>T uc002tva.1 + 3 1007 c.1007A>T c.(1006-1008)AAC>ATC p.N336I THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Missense_Mutation_p.N226I NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) AGGAGCCGGAACGTGAAGCAC 0.542 SPOPL 339745 broad.mit.edu 37 2 139326628 139326628 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:139326628G>A uc002tvh.2 + 11 1557 c.1157G>A c.(1156-1158)CGC>CAC p.R386H NM_001001664 NP_001001664 Q6IQ16 SPOPL_HUMAN speckle-type POZ protein-like 386 nucleus skin(2)|breast(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.0296) GGCATTCCACGCAAACGGCTA 0.443 GTDC1 79712 broad.mit.edu 37 2 144710386 144710386 + Missense_Mutation SNP A A C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:144710386A>C uc002tvp.2 - 10 1434 c.1155T>G c.(1153-1155)TGT>TGG p.C385W GTDC1_uc002tvo.2_Missense_Mutation_p.V337G|GTDC1_uc002tvq.2_Missense_Mutation_p.C267W|GTDC1_uc002tvr.2_Missense_Mutation_p.C300W|GTDC1_uc010fnn.2_Missense_Mutation_p.C385W|GTDC1_uc002tvs.2_Missense_Mutation_p.C353W|GTDC1_uc010fno.2_Missense_Mutation_p.C256W NM_001006636 NP_001006637 Q4AE62 GTDC1_HUMAN glycosyltransferase-like domain containing 1 385 biosynthetic process transferase activity, transferring glycosyl groups ovary(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.0914) AAAGTGGGTAACACCCACAGT 0.333 ACVR2A 92 broad.mit.edu 37 2 148674946 148674946 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:148674946G>A uc002twg.2 + 7 1036 c.767G>A c.(766-768)GGC>GAC p.G256D ACVR2A_uc010zbn.1_Missense_Mutation_p.G148D|ACVR2A_uc002twh.2_Missense_Mutation_p.G256D NM_001616 NP_001607 P27037 AVR2A_HUMAN activin A receptor, type IIA precursor 256 Cytoplasmic (Potential).|Protein kinase. activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity stomach(8)|large_intestine(2)|lung(1)|breast(1)|kidney(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.0969) GAAAAACGAGGCACCAGTGTT 0.403 NEB 4703 broad.mit.edu 37 2 152521924 152521924 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:152521924C>T uc010fnx.2 - 42 5352 c.5161G>A c.(5161-5163)GAG>AAG p.E1721K NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 1721 Nebulin 44. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TTCAGCTTCTCGGGGTGCTGG 0.507 FAP 2191 broad.mit.edu 37 2 163072486 163072486 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:163072486C>T uc002ucd.2 - 10 996 c.788G>A c.(787-789)CGG>CAG p.R263Q FAP_uc010zct.1_Missense_Mutation_p.R238Q|FAP_uc010fpd.2_Intron|FAP_uc010fpe.1_Missense_Mutation_p.R230Q NM_004460 NP_004451 Q12884 SEPR_HUMAN fibroblast activation protein, alpha subunit 263 Extracellular (Potential). endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity ovary(3) 3 AATAAATATCCGAACAACGGG 0.403 LRP2 4036 broad.mit.edu 37 2 170099985 170099985 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:170099985G>A uc002ues.2 - 23 3691 c.3478C>T c.(3478-3480)CGA>TGA p.R1160* LRP2_uc010zdf.1_Nonsense_Mutation_p.R1023* NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 1160 LDL-receptor class A 11.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TCAATACATCGATGATTGGGG 0.398 METTL8 79828 broad.mit.edu 37 2 172188335 172188335 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:172188335A>G uc010zdo.1 - 6 840 c.699T>C c.(697-699)TCT>TCC p.S233S METTL8_uc002ugu.3_Silent_p.S233S|METTL8_uc002ugv.3_Silent_p.S233S|METTL8_uc002ugt.3_Silent_p.S233S|METTL8_uc002ugs.3_Silent_p.S183S|METTL8_uc010zdp.1_Silent_p.S188S NM_024770 NP_079046 B3KW44 B3KW44_HUMAN methyltransferase like 8 233 methyltransferase activity ovary(1) 1 CCACAGCTCCAGAAGCAAAAT 0.323 HOXD4 3233 broad.mit.edu 37 2 177017383 177017383 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:177017383T>C uc002uks.2 + 2 730 c.481T>C c.(481-483)TAC>CAC p.Y161H NM_014621 NP_055436 P09016 HXD4_HUMAN homeobox D4 161 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105) Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556) CCGAACGGCCTACACCCGGCA 0.552 TTN 7273 broad.mit.edu 37 2 179397385 179397385 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:179397385G>A uc010zfg.1 - 307 96477 c.96253C>T c.(96253-96255)CGT>TGT p.R32085C uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R25780C|TTN_uc010zfi.1_Missense_Mutation_p.R25713C|TTN_uc010zfj.1_Missense_Mutation_p.R25588C NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 33012 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCAAGAGAACGTCTTCTAGGT 0.463 TTN 7273 broad.mit.edu 37 2 179435651 179435651 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:179435651C>A uc010zfg.1 - 275 67728 c.67504G>T c.(67504-67506)GGC>TGC p.G22502C uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G16197C|TTN_uc010zfi.1_Missense_Mutation_p.G16130C|TTN_uc010zfj.1_Missense_Mutation_p.G16005C NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 23429 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCAACTAGGCCAGTTACTTCA 0.418 TTN 7273 broad.mit.edu 37 2 179499546 179499546 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:179499546G>A uc010zfg.1 - 178 34575 c.34351C>T c.(34351-34353)CGC>TGC p.R11451C TTN_uc010zfh.1_Missense_Mutation_p.R5146C|TTN_uc010zfi.1_Missense_Mutation_p.R5079C|TTN_uc010zfj.1_Missense_Mutation_p.R4954C NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 12378 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTTAAGAAGCGTTTTCCACCT 0.373 NCKAP1 10787 broad.mit.edu 37 2 183867725 183867725 + Missense_Mutation SNP C C T rs142669044 byFrequency TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:183867725C>T uc002upc.2 - 4 748 c.346G>A c.(346-348)GTT>ATT p.V116I NCKAP1_uc002upb.2_Missense_Mutation_p.V122I NM_013436 NP_038464 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 isoform 1 116 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) ACTTGGCAAACGTCAATAGTA 0.313 ZSWIM2 151112 broad.mit.edu 37 2 187698688 187698688 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:187698688C>T uc002upu.1 - 6 853 c.813G>A c.(811-813)ACG>ACA p.T271T NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM domain containing 2 271 ZZ-type. apoptosis zinc ion binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) GAAATGTAAACGTGTGGGAAA 0.363 MFSD6 54842 broad.mit.edu 37 2 191301046 191301046 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:191301046A>G uc002urz.2 + 3 615 c.291A>G c.(289-291)GGA>GGG p.G97G NM_017694 NP_060164 Q6ZSS7 MFSD6_HUMAN major facilitator superfamily domain containing 97 transmembrane transport integral to membrane ovary(2) 2 AACAGCTGGGAATGTCTCCAA 0.413 STAT1 6772 broad.mit.edu 37 2 191850352 191850352 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:191850352G>A uc002usj.2 - 15 1644 c.1256C>T c.(1255-1257)ACG>ATG p.T419M STAT1_uc010fse.1_Missense_Mutation_p.T419M|STAT1_uc002usk.2_Missense_Mutation_p.T419M|STAT1_uc002usl.2_Missense_Mutation_p.T421M|STAT1_uc010fsf.1_Missense_Mutation_p.T231M NM_007315 NP_009330 P42224 STAT1_HUMAN signal transducer and activator of transcription 419 activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) CACCTCATTCGTTCTGGTGCC 0.433 PLCL1 5334 broad.mit.edu 37 2 198950564 198950564 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:198950564A>G uc010fsp.2 + 2 2614 c.2323A>G c.(2323-2325)AAT>GAT p.N775D PLCL1_uc002uuv.3_Missense_Mutation_p.N696D NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 775 C2. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) AAACAGTGATAATCCTATTTT 0.398 PLCL1 5334 broad.mit.edu 37 2 198950794 198950794 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:198950794T>C uc010fsp.2 + 2 2844 c.2553T>C c.(2551-2553)AGT>AGC p.S851S PLCL1_uc002uuv.3_Silent_p.S772S NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 851 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) CTAATCGAAGTGGAGGAGGAA 0.463 PLCL1 5334 broad.mit.edu 37 2 199011601 199011601 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:199011601C>A uc010fsp.2 + 6 3494 c.3203C>A c.(3202-3204)CCC>CAC p.P1068H PLCL1_uc002uuv.3_Missense_Mutation_p.P989H NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 1068 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) AGTAAAGCCCCCAGCAGCAGT 0.517 ALS2 57679 broad.mit.edu 37 2 202625614 202625614 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:202625614A>G uc002uyo.2 - 4 1459 c.1103T>C c.(1102-1104)GTG>GCG p.V368A ALS2_uc002uyp.3_Missense_Mutation_p.V368A|ALS2_uc002uyq.2_Missense_Mutation_p.V368A|ALS2_uc002uyr.2_Missense_Mutation_p.V368A NM_020919 NP_065970 Q96Q42 ALS2_HUMAN alsin isoform 1 368 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity skin(5)|lung(1)|breast(1) 7 CTGAGATGGCACTGGCTTTTC 0.398 CREB1 1385 broad.mit.edu 37 2 208424959 208424959 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:208424959C>T uc002vcc.2 + 3 375 c.124C>T c.(124-126)CCA>TCA p.P42S CREB1_uc010ziz.1_Missense_Mutation_p.P40S|CREB1_uc002vcd.2_Missense_Mutation_p.P42S|CREB1_uc010zja.1_RNA NM_134442 NP_604391 P16220 CREB1_HUMAN cAMP responsive element binding protein 1 42 activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway protein dimerization activity|transcription cofactor activity EWSR1/CREB1(42) soft_tissue(42)|breast(1)|central_nervous_system(1) 44 LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145) Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183) GGTATCTATGCCAGCAGCTCA 0.448 T EWSR1 clear cell sarcoma|angiomatoid fibrous histiocytoma IKZF2 22807 broad.mit.edu 37 2 213872376 213872376 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:213872376C>A uc002vem.2 - 8 1458 c.1289G>T c.(1288-1290)AGG>ATG p.R430M IKZF2_uc010fuu.2_Missense_Mutation_p.R285M|IKZF2_uc002vej.2_Missense_Mutation_p.R377M|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Missense_Mutation_p.R356M|IKZF2_uc002vel.2_Missense_Mutation_p.R351M|IKZF2_uc010fuw.2_Missense_Mutation_p.R204M|IKZF2_uc010fux.2_Missense_Mutation_p.R204M|IKZF2_uc010fuy.2_Missense_Mutation_p.R358M|IKZF2_uc002ven.2_Missense_Mutation_p.R404M|IKZF2_uc002vei.2_Missense_Mutation_p.R208M NM_016260 NP_057344 Q9UKS7 IKZF2_HUMAN helios isoform 1 430 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) GCTTTGTTTCCTCTTGGGATT 0.502 SMARCAL1 50485 broad.mit.edu 37 2 217315720 217315720 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:217315720G>A uc002vgc.3 + 12 2333 c.2003G>A c.(2002-2004)CGG>CAG p.R668Q SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.R668Q|SMARCAL1_uc010fvg.2_Missense_Mutation_p.R646Q NM_014140 NP_054859 Q9NZC9 SMAL1_HUMAN SWI/SNF-related matrix-associated 668 chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity ovary(3)|breast(3)|skin(1) 7 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) GCCCCAGGACGGATCAATGCC 0.582 Schimke_Immuno-Osseous_Dysplasia TNS1 7145 broad.mit.edu 37 2 218678471 218678471 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:218678471C>T uc002vgt.2 - 26 4884 c.4486G>A c.(4486-4488)GCG>ACG p.A1496T TNS1_uc002vgr.2_Missense_Mutation_p.A1483T|TNS1_uc002vgs.2_Missense_Mutation_p.A1475T|TNS1_uc002vgq.2_5'UTR NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN tensin 1496 SH2. cytoplasm|cytoskeleton|focal adhesion actin binding ovary(3)|breast(1) 4 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) AGCCCGTACGCGCCTCGGAAG 0.592 C2orf62 375307 broad.mit.edu 37 2 219229425 219229425 + Silent SNP C C T rs142758364 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:219229425C>T uc002vhr.2 + 7 734 c.705C>T c.(703-705)CAC>CAT p.H235H C2orf62_uc002vhs.2_Intron NM_198559 NP_940961 Q7Z7H3 CB062_HUMAN hypothetical protein LOC375307 235 0 Renal(207;0.0915) Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGACTGTCCACGCGGAGGAGG 0.597 STK36 27148 broad.mit.edu 37 2 219561885 219561885 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:219561885C>A uc002viu.2 + 23 2976 c.2710C>A c.(2710-2712)CTA>ATA p.L904I STK36_uc002viv.2_Missense_Mutation_p.L883I|STK36_uc002viw.2_Missense_Mutation_p.L82I|STK36_uc002vix.2_5'UTR NM_015690 NP_056505 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 904 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1) 11 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) GGAGCTTTCGCTATCCAGTCC 0.522 CCDC108 255101 broad.mit.edu 37 2 219893021 219893021 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:219893021G>A uc002vjl.1 - 12 1837 c.1753C>T c.(1753-1755)CGG>TGG p.R585W CCDC108_uc010fwa.1_Missense_Mutation_p.R28W|CCDC108_uc010zkp.1_Missense_Mutation_p.R574W|CCDC108_uc010zkq.1_Missense_Mutation_p.R520W NM_194302 NP_919278 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 isoform 1 585 integral to membrane structural molecule activity ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GTCAGGCCCCGGGCCAGGTGT 0.622 ACSL3 2181 broad.mit.edu 37 2 223791754 223791754 + Nonsense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:223791754C>T uc002vni.2 + 12 1763 c.1312C>T c.(1312-1314)CGA>TGA p.R438* ACSL3_uc002vnj.2_Nonsense_Mutation_p.R438* NM_004457 NP_004448 O95573 ACSL3_HUMAN acyl-CoA synthetase long-chain family member 3 438 Cytoplasmic (Potential). long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding ovary(2) 2 Renal(207;0.0183) Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864) Icosapent(DB00159) CCGGAAAGTTCGAAGCTTGCT 0.303 T ETV1 prostate KIAA1486 57624 broad.mit.edu 37 2 226447629 226447629 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:226447629C>T uc002voe.2 + 4 1671 c.1496C>T c.(1495-1497)CCG>CTG p.P499L KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.P269L NM_020864 NP_065915 Q9P242 K1486_HUMAN hypothetical protein LOC57624 499 ovary(2)|central_nervous_system(1) 3 Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129) Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223) GGGGCAGCCCCGGGTGGCTCC 0.687 ALPI 248 broad.mit.edu 37 2 233323610 233323610 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:233323610G>A uc002vst.3 + 11 1418 c.1341G>A c.(1339-1341)TCG>TCA p.S447S ALPI_uc002vsu.3_Silent_p.S358S NM_001631 NP_001622 P09923 PPBI_HUMAN intestinal alkaline phosphatase precursor 447 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding central_nervous_system(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) TGCCCCTGTCGTCCGAGACCC 0.692 CHRND 1144 broad.mit.edu 37 2 233393281 233393281 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:233393281C>T uc002vsw.2 + 5 428 c.424C>T c.(424-426)CTG>TTG p.L142L CHRND_uc010zmg.1_Silent_p.L127L|CHRND_uc010fyc.2_Silent_p.G51G|CHRND_uc010zmh.1_Silent_p.G51G NM_000751 NP_000742 Q07001 ACHD_HUMAN nicotinic acetylcholine receptor delta 142 Extracellular (Potential). muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity ovary(1)|breast(1)|skin(1) 3 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) CGTGTACTGGCTGCCACCTGC 0.562 COL6A3 1293 broad.mit.edu 37 2 238233452 238233452 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:238233452C>T uc002vwl.2 - 44 9784 c.9499G>A c.(9499-9501)GCC>ACC p.A3167T COL6A3_uc002vwo.2_Missense_Mutation_p.A2961T|COL6A3_uc010znj.1_Missense_Mutation_p.A2560T|COL6A3_uc002vwj.2_Missense_Mutation_p.A548T NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 3167 Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CCGGGTTTGGCGAGCACTGAG 0.537 COL6A3 1293 broad.mit.edu 37 2 238253700 238253700 + Splice_Site SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:238253700C>T uc002vwl.2 - 34 7447 c.7162_splice c.e34+1 p.P2388_splice COL6A3_uc002vwo.2_Splice_Site_p.P2182_splice|COL6A3_uc010znj.1_Splice_Site_p.P1781_splice|COL6A3_uc002vwj.2_5'Flank|COL6A3_uc002vwp.1_Splice_Site_p.P209_splice NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CATGTACTTACGGCATTTATC 0.343 COL6A3 1293 broad.mit.edu 37 2 238277739 238277739 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:238277739C>T uc002vwl.2 - 10 4652 c.4367G>A c.(4366-4368)CGA>CAA p.R1456Q COL6A3_uc002vwo.2_Missense_Mutation_p.R1250Q|COL6A3_uc010znj.1_Missense_Mutation_p.R849Q NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1456 VWFA 8.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) AACAAAATCTCGAATATGTGC 0.458 MYEOV2 150678 broad.mit.edu 37 2 241066179 241066179 + Missense_Mutation SNP C C T rs140948790 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:241066179C>T uc002vyu.1 - 5 560 c.560G>A c.(559-561)CGG>CAG p.R187Q NM_138336 NP_612209 Q8WXC6 MYOV2_HUMAN hypothetical protein LOC150678 isoform 1 Error:Variant_position_missing_in_Q8WXC6_after_alignment 0 all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143) TTGGTTCTTCCGTAAACTGTT 0.483 ANKMY1 51281 broad.mit.edu 37 2 241492466 241492466 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:241492466A>G uc002vyz.1 - 3 307 c.78T>C c.(76-78)CAT>CAC p.H26H ANKMY1_uc002vza.1_Silent_p.H115H|ANKMY1_uc010fzd.1_Silent_p.H115H|ANKMY1_uc002vzb.1_Silent_p.H115H|ANKMY1_uc002vzc.1_Silent_p.H115H|ANKMY1_uc002vzd.1_Silent_p.H115H|ANKMY1_uc010fze.1_Intron|ANKMY1_uc002vze.2_Silent_p.H17H|ANKMY1_uc002vzf.2_Silent_p.H17H NM_016552 NP_057636 Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 26 MORN 2. zinc ion binding central_nervous_system(1) 1 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) AAAACTGCCCATGGTATGACT 0.552 GPR35 2859 broad.mit.edu 37 2 241569453 241569453 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:241569453C>T uc002vzs.1 + 1 659 c.84C>T c.(82-84)GGC>GGT p.G28G GPR35_uc010fzh.1_Silent_p.G59G|GPR35_uc010fzi.1_Silent_p.G59G NM_005301 NP_005292 Q9HC97 GPR35_HUMAN G protein-coupled receptor 35 28 Helical; Name=1; (Potential). integral to plasma membrane G-protein coupled receptor activity skin(2)|pancreas(1) 3 all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238) Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031) CCTACTTGGGCGTCCTGCTGG 0.627 C2orf54 79919 broad.mit.edu 37 2 241831149 241831149 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:241831149C>T uc002wae.3 - 2 705 c.546G>A c.(544-546)GAG>GAA p.E182E C2orf54_uc002wac.2_Silent_p.E14E|C2orf54_uc002wad.2_Silent_p.E33E NM_001085437 NP_001078906 Q08AI8 CB054_HUMAN hypothetical protein LOC79919 isoform 1 182 0 all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) GGTGGAGCTGCTCCTCCCTCA 0.652 STK25 10494 broad.mit.edu 37 2 242439681 242439681 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:242439681G>T uc002wbm.2 - 4 605 c.334C>A c.(334-336)CTG>ATG p.L112M STK25_uc002wbk.2_5'Flank|STK25_uc002wbl.2_5'Flank|STK25_uc002wbn.2_Missense_Mutation_p.L112M|STK25_uc002wbo.2_Missense_Mutation_p.L35M|STK25_uc010zos.1_Missense_Mutation_p.L18M|STK25_uc010zot.1_Missense_Mutation_p.L38M|STK25_uc002wbp.2_Missense_Mutation_p.L112M|STK25_uc010fzo.2_Missense_Mutation_p.L35M|STK25_uc010zou.1_Missense_Mutation_p.L18M|STK25_uc010zov.1_Missense_Mutation_p.L18M|STK25_uc010zow.1_Missense_Mutation_p.L112M NM_006374 NP_006365 O00506 STK25_HUMAN serine/threonine kinase 25 112 Protein kinase. response to oxidative stress|signal transduction Golgi apparatus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity 0 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839) GTCTCCTCCAGGGGACCTGGT 0.582 C2orf85 285093 broad.mit.edu 37 2 242815105 242815105 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:242815105G>A uc010fzu.1 + 2 1421 c.1398G>A c.(1396-1398)ACG>ACA p.T466T NM_173821 NP_776182 Q14D33 CB085_HUMAN hypothetical protein LOC285093 466 integral to membrane ovary(1) 1 GCCCCATCACGGTTAGTGAGG 0.612 PSMF1 9491 broad.mit.edu 37 20 1106263 1106263 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:1106263C>T uc002wel.3 + 3 420 c.252C>T c.(250-252)ACC>ACT p.T84T PSMF1_uc010zpo.1_5'UTR|PSMF1_uc002wem.3_Silent_p.T84T|PSMF1_uc010zpp.1_Silent_p.T84T|PSMF1_uc002wen.3_Silent_p.T84T NM_178578 NP_848693 Q92530 PSMF1_HUMAN proteasome inhibitor subunit 1 84 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome core complex endopeptidase inhibitor activity|protein binding 0 AAGCCATCACCGTGGAGAGCA 0.493 VPS16 64601 broad.mit.edu 37 20 2840378 2840378 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:2840378T>C uc002whe.2 + 2 115 c.67T>C c.(67-69)TAC>CAC p.Y23H VPS16_uc002whf.2_Missense_Mutation_p.Y23H|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_5'Flank NM_022575 NP_072097 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 isoform 1 23 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome ovary(2)|pancreas(1)|skin(1) 4 ATATGAGCTGTACAGCATGGA 0.542 ProSAPiP1 9762 broad.mit.edu 37 20 3146842 3146842 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:3146842T>C uc002wia.1 - 2 2022 c.624A>G c.(622-624)CCA>CCG p.P208P ProSAPiP1_uc002wib.1_Silent_p.P208P NM_014731 NP_055546 O60299 PRIP1_HUMAN ProSAPiP1 protein 208 cell junction|cytoplasm|postsynaptic density|postsynaptic membrane pancreas(1) 1 TCCCACCCGCTGGAGTCATGG 0.642 ATRN 8455 broad.mit.edu 37 20 3565398 3565398 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:3565398G>T uc002wim.2 + 18 3145 c.3055G>T c.(3055-3057)GGT>TGT p.G1019C ATRN_uc002wil.2_Missense_Mutation_p.G1019C NM_139321 NP_647537 O75882 ATRN_HUMAN attractin isoform 1 1019 Extracellular (Potential).|PSI 4. inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding ovary(1)|breast(1) 2 ATGCATAGAGGGTTCCTATAA 0.493 SMOX 54498 broad.mit.edu 37 20 4164164 4164164 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:4164164C>T uc002wkm.1 + 6 1594 c.1393C>T c.(1393-1395)CGG>TGG p.R465W SMOX_uc002wkk.1_Missense_Mutation_p.R412W|SMOX_uc002wkl.1_Missense_Mutation_p.R412W|SMOX_uc002wkn.1_Intron|SMOX_uc002wkp.2_Missense_Mutation_p.R465W|SMOX_uc010zqo.1_Missense_Mutation_p.R389W|SMOX_uc002wko.1_Missense_Mutation_p.R465W NM_175839 NP_787033 Q9NWM0 SMOX_HUMAN spermine oxidase isoform 1 465 polyamine biosynthetic process|xenobiotic metabolic process cytosol|nucleus polyamine oxidase activity breast(1) 1 Spermine(DB00127) TCCAAAACCTCGGCGAATCTT 0.567 SNAP25 6616 broad.mit.edu 37 20 10277684 10277684 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:10277684C>T uc002wnq.1 + 6 605 c.393C>T c.(391-393)GGC>GGT p.G131G SNAP25_uc002wnr.1_Silent_p.G131G|SNAP25_uc002wns.1_Silent_p.G68G|SNAP25_uc010gca.1_Silent_p.G131G|SNAP25_uc010gcb.1_Silent_p.G68G|SNAP25_uc010gcc.1_Intron NM_130811 NP_570824 P60880 SNP25_HUMAN synaptosomal-associated protein 25 isoform 131 energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome skin(2) 2 Botulinum Toxin Type A(DB00083) CCATCAGTGGCGGCTTCATCC 0.403 JAG1 182 broad.mit.edu 37 20 10622442 10622442 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:10622442C>T uc002wnw.2 - 22 3187 c.2671G>A c.(2671-2673)GCC>ACC p.A891T JAG1_uc010gcd.1_Missense_Mutation_p.A449T NM_000214 NP_000205 P78504 JAG1_HUMAN jagged 1 precursor 891 Extracellular (Potential). angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1) 9 TTTGAGCAGGCGATCCGTCCA 0.527 Alagille_Syndrome FLRT3 23767 broad.mit.edu 37 20 14308191 14308191 + Translation_Start_Site SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:14308191G>A uc002wov.1 - 3 429 c.-38C>T c.(-40--36)AACGG>AATGG MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Translation_Start_Site NM_198391 NP_938205 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity kidney(1) 1 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) GGTAGCTTCCGTTACTTCAGA 0.388 OTOR 56914 broad.mit.edu 37 20 16729527 16729527 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:16729527C>T uc002wpj.2 + 2 175 c.131C>T c.(130-132)GCT>GTT p.A44V OTOR_uc002wpk.2_5'Flank NM_020157 NP_064542 Q9NRC9 OTOR_HUMAN otoraplin precursor 44 SH3. sensory perception of sound extracellular region ovary(1)|central_nervous_system(1) 2 ATTTCTCTGGCTAGTGCTCAA 0.323 PCSK2 5126 broad.mit.edu 37 20 17462676 17462676 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:17462676C>T uc002wpm.2 + 12 2198 c.1878C>T c.(1876-1878)GCC>GCT p.A626A PCSK2_uc002wpl.2_Silent_p.A607A|PCSK2_uc010zrm.1_Silent_p.A591A|PCSK2_uc002wpn.2_Silent_p.A280A NM_002594 NP_002585 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 626 enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1) 7 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TGGACGAAGCCGTGGAGAGAA 0.592 CSRP2BP 57325 broad.mit.edu 37 20 18143418 18143418 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:18143418G>A uc002wqj.2 + 7 2122 c.1500G>A c.(1498-1500)GCG>GCA p.A500A CSRP2BP_uc002wqk.2_Silent_p.A372A|CSRP2BP_uc010zru.1_Silent_p.A371A NM_020536 NP_065397 Q9H8E8 CSR2B_HUMAN CSRP2 binding protein 500 histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm LIM domain binding|N-acetyltransferase activity lung(3)|ovary(2)|skin(1) 6 TCAGACAAGCGAAAAGGGATA 0.468 ZNF133 7692 broad.mit.edu 37 20 18296783 18296783 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:18296783C>T uc010gcq.2 + 5 1593 c.1288C>T c.(1288-1290)CGG>TGG p.R430W ZNF133_uc010zrv.1_Missense_Mutation_p.R433W|ZNF133_uc010zrw.1_Missense_Mutation_p.R367W|ZNF133_uc010gcr.2_Missense_Mutation_p.R430W|ZNF133_uc010zrx.1_Missense_Mutation_p.R335W|ZNF133_uc002wql.3_Missense_Mutation_p.R429W|ZNF133_uc010gcs.2_Missense_Mutation_p.R429W|ZNF133_uc010zry.1_Missense_Mutation_p.R335W|ZNF133_uc002wqm.2_Missense_Mutation_p.R430W NM_003434 NP_003425 P52736 ZN133_HUMAN zinc finger protein 133 430 C2H2-type 8. nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|pancreas(1) 2 CTCTCACAGGCGGACACACAC 0.542 PAX1 5075 broad.mit.edu 37 20 21687147 21687147 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:21687147C>T uc002wsj.2 + 2 412 c.358C>T c.(358-360)CGC>TGC p.R120C PAX1_uc010zsl.1_Missense_Mutation_p.R120C|PAX1_uc010zsm.1_Missense_Mutation_p.R96C NM_006192 NP_006183 P15863 PAX1_HUMAN paired box 1 120 Paired. regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding upper_aerodigestive_tract(1)|kidney(1) 2 CAACGCCATCCGCTTGCGCAT 0.662 PAX1 5075 broad.mit.edu 37 20 21687491 21687491 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:21687491C>T uc002wsj.2 + 2 756 c.702C>T c.(700-702)TAC>TAT p.Y234Y PAX1_uc010zsl.1_Silent_p.Y234Y|PAX1_uc010zsm.1_Silent_p.Y210Y NM_006192 NP_006183 P15863 PAX1_HUMAN paired box 1 234 regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding upper_aerodigestive_tract(1)|kidney(1) 2 CCGGACCGTACGAGGCAAGTA 0.642 ACSS1 84532 broad.mit.edu 37 20 25011401 25011401 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:25011401T>C uc002wub.2 - 3 1503 c.625A>G c.(625-627)AAT>GAT p.N209D ACSS1_uc002wuc.2_Missense_Mutation_p.N209D|ACSS1_uc010gdc.2_Missense_Mutation_p.N209D|ACSS1_uc002wua.2_Missense_Mutation_p.N126D NM_032501 NP_115890 Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 209 acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix acetate-CoA ligase activity|AMP binding|ATP binding|protein binding ovary(1)|skin(1) 2 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) TCACCATCATTGATCCTCCCA 0.587 MAPRE1 22919 broad.mit.edu 37 20 31427543 31427543 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:31427543C>T uc002wyh.2 + 5 617 c.478C>T c.(478-480)CCC>TCC p.P160S NM_012325 NP_036457 Q15691 MARE1_HUMAN microtubule-associated protein, RP/EB family, 160 Interaction with MTUS2/TIP150. cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule centrosome|cortical microtubule cytoskeleton|cytosol microtubule plus-end binding|protein C-terminus binding 0 TTTTTCAGCTCCCCAGAGGCC 0.527 CDK5RAP1 51654 broad.mit.edu 37 20 31967484 31967484 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:31967484A>G uc010gek.2 - 9 1056 c.932T>C c.(931-933)GTG>GCG p.V311A CDK5RAP1_uc002wyy.2_Missense_Mutation_p.V207A|CDK5RAP1_uc002wyz.2_Missense_Mutation_p.V297A|CDK5RAP1_uc002wza.2_Missense_Mutation_p.V297A|CDK5RAP1_uc010gel.2_Missense_Mutation_p.V206A|CDK5RAP1_uc010gem.2_Intron|CDK5RAP1_uc002wzc.1_Missense_Mutation_p.V297A NM_016408 NP_057492 Q96SZ6 CK5P1_HUMAN CDK5 regulatory subunit associated protein 1 311 brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification cytoplasm 4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity ovary(2)|skin(2)|lung(1) 5 AAGAAGTGTCACTTCTTTCAG 0.368 CEP250 11190 broad.mit.edu 37 20 34053898 34053898 + Nonsense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:34053898C>T uc002xcm.2 + 8 1032 c.361C>T c.(361-363)CGA>TGA p.R121* CEP250_uc010zve.1_5'UTR|CEP250_uc010gfe.1_RNA|CEP250_uc010zvd.1_RNA|CEP250_uc002xco.2_5'Flank NM_007186 NP_009117 Q9BV73 CP250_HUMAN centrosomal protein 2 121 Potential. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding ovary(4)|central_nervous_system(1) 5 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) CACCCAGCTTCGACTGCACAT 0.532 RBM12 10137 broad.mit.edu 37 20 34241967 34241967 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:34241967A>G uc002xdq.2 - 3 1510 c.1278T>C c.(1276-1278)CAT>CAC p.H426H CPNE1_uc010zvj.1_5'Flank|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Silent_p.H426H|RBM12_uc002xds.2_Silent_p.H426H NM_152838 NP_690051 Q9NTZ6 RBM12_HUMAN RNA binding motif protein 12 426 nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) AACCAGCCTCATGTGGTGATC 0.413 OREG0004044 type=REGULATORY REGION|Gene=CPNE1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay RBL1 5933 broad.mit.edu 37 20 35663858 35663858 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:35663858C>T uc002xgi.2 - 15 2036 c.1957G>A c.(1957-1959)GCA>ACA p.A653T RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.A653T NM_002895 NP_002886 P28749 RBL1_HUMAN retinoblastoma-like protein 1 isoform a 653 Pocket; binds T and E1A.|Spacer. 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) GCACTCCCTGCGGTAGGAGAA 0.368 RPN2 6185 broad.mit.edu 37 20 35835788 35835788 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:35835788A>G uc002xgp.2 + 7 1107 c.803A>G c.(802-804)CAC>CGC p.H268R RPN2_uc002xgo.3_Missense_Mutation_p.H268R|RPN2_uc010gfw.2_Missense_Mutation_p.H111R|RPN2_uc002xgq.2_Missense_Mutation_p.H236R NM_002951 NP_002942 P04844 RPN2_HUMAN ribophorin II isoform 1 precursor 268 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|nucleus|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding ovary(2)|skin(1) 3 Myeloproliferative disorder(115;0.00878) AATCGCTACCACGTGCCAGTT 0.547 SLC32A1 140679 broad.mit.edu 37 20 37357184 37357184 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:37357184G>A uc002xjc.2 + 2 1743 c.1480G>A c.(1480-1482)GTC>ATC p.V494I NM_080552 NP_542119 Q9H598 VIAAT_HUMAN solute carrier family 32, member 1 494 Helical; (Potential). neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity 0 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) CTTCTTCGACGTCGCCATCTT 0.647 DHX35 60625 broad.mit.edu 37 20 37662959 37662959 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:37662959C>T uc002xjh.2 + 21 2077 c.2066C>T c.(2065-2067)ACG>ATG p.T689M DHX35_uc010zwa.1_Missense_Mutation_p.T534M|DHX35_uc010zwb.1_Missense_Mutation_p.T534M|DHX35_uc010zwc.1_Missense_Mutation_p.T658M NM_021931 NP_068750 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 689 catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding lung(1)|kidney(1)|skin(1) 3 Myeloproliferative disorder(115;0.00878) CAACAAGGAACGGTAGGAATG 0.448 HNF4A 3172 broad.mit.edu 37 20 43034816 43034816 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:43034816C>T uc002xma.2 + 2 323 c.234C>T c.(232-234)GAC>GAT p.D78D HNF4A_uc010zwo.1_Missense_Mutation_p.T69M|HNF4A_uc002xlt.2_Silent_p.D56D|HNF4A_uc002xlu.2_Silent_p.D56D|HNF4A_uc002xlv.2_Silent_p.D56D|HNF4A_uc002xly.2_Silent_p.D78D|HNF4A_uc002xlz.2_Silent_p.D78D|HNF4A_uc010ggq.2_Silent_p.D71D NM_000457 NP_000448 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4 alpha isoform b 78 Nuclear receptor.|NR C4-type. blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|lung(1)|skin(1) 3 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) CGAGCTGTGACGGCTGCAAGG 0.547 WFDC8 90199 broad.mit.edu 37 20 44184357 44184357 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:44184357G>A uc002xow.2 - 4 507 c.428C>T c.(427-429)ACG>ATG p.T143M WFDC8_uc002xox.2_Missense_Mutation_p.T143M NM_181510 NP_852611 Q8IUA0 WFDC8_HUMAN WAP four-disulfide core domain 8 precursor 143 BPTI/Kunitz inhibitor. extracellular region serine-type endopeptidase inhibitor activity 0 Myeloproliferative disorder(115;0.0122) CATGCAGGCCGTTCTGCAGGC 0.368 MMP9 4318 broad.mit.edu 37 20 44641107 44641107 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:44641107G>A uc002xqz.2 + 8 1235 c.1216G>A c.(1216-1218)GCG>ACG p.A406T NM_004994 NP_004985 P14780 MMP9_HUMAN matrix metalloproteinase 9 preproprotein 406 collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis extracellular space|proteinaceous extracellular matrix collagen binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641) GTTCGGCCACGCGCTGGGCTT 0.637 SLC12A5 57468 broad.mit.edu 37 20 44685876 44685876 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:44685876C>T uc010zxl.1 + 25 3338 c.3262C>T c.(3262-3264)CGG>TGG p.R1088W SLC12A5_uc002xrb.2_Missense_Mutation_p.R1065W NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium-chloride 1088 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) GAAGAAATCCCGGGACGCCAA 0.577 CDH22 64405 broad.mit.edu 37 20 44815281 44815281 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:44815281G>A uc002xrm.2 - 9 2010 c.1609C>T c.(1609-1611)CGC>TGC p.R537C CDH22_uc010ghk.1_Missense_Mutation_p.R537C NM_021248 NP_067071 Q9UJ99 CAD22_HUMAN cadherin 22 precursor 537 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|skin(1) 5 Myeloproliferative disorder(115;0.0122) GGCACCAGGCGGAAATAGAAG 0.587 ARFGEF2 10564 broad.mit.edu 37 20 47605849 47605849 + Missense_Mutation SNP T T G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:47605849T>G uc002xtx.3 + 19 2713 c.2561T>G c.(2560-2562)CTG>CGG p.L854R ARFGEF2_uc010zyf.1_Missense_Mutation_p.L147R NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine 854 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(3)|upper_aerodigestive_tract(1) 4 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) CAGCGGCGGCTGCTGTACAAC 0.393 ARFGEF2 10564 broad.mit.edu 37 20 47611069 47611069 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:47611069C>T uc002xtx.3 + 22 3207 c.3055C>T c.(3055-3057)CGT>TGT p.R1019C ARFGEF2_uc010zyf.1_Missense_Mutation_p.R312C NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine 1019 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(3)|upper_aerodigestive_tract(1) 4 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) TGGATCTGGGCGTGAAAGAGA 0.557 SNAI1 6615 broad.mit.edu 37 20 48604589 48604589 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:48604589G>A uc002xuz.2 + 3 861 c.791G>A c.(790-792)CGC>CAC p.R264H NM_005985 NP_005976 O95863 SNAI1_HUMAN snail 1 homolog 264 epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent cytoplasm|nucleus kinase binding|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(9;4.03e-06) GGATGTCCCCGCTGACCCTCG 0.612 ADNP 23394 broad.mit.edu 37 20 49508895 49508895 + Missense_Mutation SNP T T G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:49508895T>G uc002xvt.1 - 5 2701 c.2356A>C c.(2356-2358)ATT>CTT p.I786L ADNP_uc002xvu.1_Missense_Mutation_p.I786L NM_015339 NP_056154 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector 786 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 AGCTTCTCAATTTCTCTCCTG 0.413 ZNF217 7764 broad.mit.edu 37 20 52193292 52193292 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:52193292C>T uc002xwq.3 - 3 2282 c.2011G>A c.(2011-2013)GCA>ACA p.A671T ZNF217_uc010gij.1_Missense_Mutation_p.A663T NM_006526 NP_006517 O75362 ZN217_HUMAN zinc finger protein 217 671 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1) 6 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) CAGTCAGCTGCGGTCTCCGTT 0.483 NPEPL1 79716 broad.mit.edu 37 20 57269569 57269569 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:57269569G>A uc010zzs.1 + 3 523 c.428G>A c.(427-429)CGC>CAC p.R143H NPEPL1_uc010zzr.1_Missense_Mutation_p.R95H|NPEPL1_uc002xzn.2_RNA|NPEPL1_uc010gjo.1_Missense_Mutation_p.R115H|NPEPL1_uc002xzp.2_Missense_Mutation_p.R31H NM_024663 NP_078939 Q8NDH3 PEPL1_HUMAN aminopeptidase-like 1 143 proteolysis cytoplasm aminopeptidase activity|manganese ion binding|metalloexopeptidase activity 0 all_lung(29;0.0175) BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109) GCCTCTCGGCGCTTGGAGAAG 0.637 ZNF831 128611 broad.mit.edu 37 20 57768886 57768886 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:57768886T>C uc002yan.2 + 1 2812 c.2812T>C c.(2812-2814)TCC>CCC p.S938P NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 938 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) TAATGCCTTTTCCCCCAAGTA 0.637 CDH26 60437 broad.mit.edu 37 20 58563985 58563985 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:58563985G>A uc002ybe.2 + 9 1350 c.1050G>A c.(1048-1050)GCG>GCA p.A350A CDH26_uc002ybf.1_5'UTR|CDH26_uc010zzy.1_RNA NM_177980 NP_817089 Q8IXH8 CAD26_HUMAN cadherin-like 26 isoform a 350 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|central_nervous_system(1) 4 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) CTCGCCCAGCGCAAAGCCTCA 0.572 NTSR1 4923 broad.mit.edu 37 20 61391505 61391505 + Missense_Mutation SNP C C G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:61391505C>G uc002ydf.2 + 4 1514 c.1143C>G c.(1141-1143)TGC>TGG p.C381W NM_002531 NP_002522 P30989 NTR1_HUMAN neurotensin receptor 1 381 Cytoplasmic (Potential). endoplasmic reticulum|Golgi apparatus|integral to plasma membrane neurotensin receptor activity, G-protein coupled skin(2)|lung(1)|central_nervous_system(1) 4 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;3.63e-06) CACTGGCCTGCCTCTGCCCGG 0.627 YTHDF1 54915 broad.mit.edu 37 20 61834535 61834535 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:61834535C>T uc002yeh.2 - 4 1051 c.757G>A c.(757-759)GGG>AGG p.G253R YTHDF1_uc011aaq.1_Missense_Mutation_p.G203R NM_017798 NP_060268 Q9BYJ9 YTHD1_HUMAN YTH domain family, member 1 253 Gln/Pro-rich. ovary(2) 2 ATGACAGGCCCGCTCTTTGTT 0.572 KCNQ2 3785 broad.mit.edu 37 20 62070960 62070960 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:62070960C>T uc002yey.1 - 6 1095 c.918G>A c.(916-918)GCG>GCA p.A306A KCNQ2_uc002yez.1_Silent_p.A306A|KCNQ2_uc002yfa.1_Silent_p.A306A|KCNQ2_uc002yfb.1_Silent_p.A306A|KCNQ2_uc011aax.1_Silent_p.A306A|KCNQ2_uc002yfc.1_Silent_p.A306A NM_172107 NP_742105 O43526 KCNQ2_HUMAN potassium voltage-gated channel KQT-like protein 306 Helical; Name=Segment S6; (Potential). A -> T (in EBN1; 20%-40% reduction of wt heteromeric current. Ratio of 1:1:2). axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) CTGCAGGCAGCGCGAAGAAGG 0.637 SRMS 6725 broad.mit.edu 37 20 62178751 62178751 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:62178751C>T uc002yfi.1 - 1 107 c.66G>A c.(64-66)GCG>GCA p.A22A NM_080823 NP_543013 Q9H3Y6 SRMS_HUMAN src-related kinase lacking C-terminal regulatory 22 ATP binding|non-membrane spanning protein tyrosine kinase activity stomach(1)|lung(1) 2 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) GCTCGCCGCCCGCCGGCCAGA 0.711 PRIC285 85441 broad.mit.edu 37 20 62196899 62196899 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:62196899G>A uc002yfm.2 - 9 4168 c.3276C>T c.(3274-3276)GAC>GAT p.D1092D PRIC285_uc002yfl.1_Silent_p.D523D NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN PPAR-alpha interacting complex protein 285 1092 cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding central_nervous_system(2) 2 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) CCAGCAGCCCGTCCTCCCCGA 0.682 UCKL1 54963 broad.mit.edu 37 20 62577179 62577179 + Silent SNP C C T rs61743506 byFrequency TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:62577179C>T uc010gkn.2 - 4 604 c.561G>A c.(559-561)ACG>ACA p.T187T UCKL1_uc011abm.1_Silent_p.T172T|UCKL1_uc011abn.1_RNA|UCKL1_uc011abo.1_RNA NM_017859 NP_060329 Q9NWZ5 UCKL1_HUMAN uridine-cytidine kinase 1-like 1 187 interspecies interaction between organisms endoplasmic reticulum|nucleus ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity 0 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) TCCGGCTGTGCGTGGTGAAGT 0.592 ZNF512B 57473 broad.mit.edu 37 20 62598745 62598745 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:62598745G>A uc002yhl.1 - 3 307 c.253C>T c.(253-255)CGA>TGA p.R85* NM_020713 NP_065764 Q96KM6 Z512B_HUMAN zinc finger protein 512B 85 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) GGAATGTCTCGGAGGGCCTGG 0.622 OPRL1 4987 broad.mit.edu 37 20 62729786 62729786 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:62729786G>A uc002yic.2 + 5 1149 c.747G>A c.(745-747)TCG>TCA p.S249S OPRL1_uc002yid.2_Silent_p.S249S|OPRL1_uc002yif.3_Silent_p.S244S NM_182647 NP_872588 P41146 OPRX_HUMAN opiate receptor-like 1 249 Cytoplasmic (Potential). elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane protein binding|X-opioid receptor activity central_nervous_system(1)|skin(1) 2 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) GCCTGCTCTCGGGCTCCCGAG 0.632 NRIP1 8204 broad.mit.edu 37 21 16338141 16338141 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr21:16338141G>A uc002yjx.2 - 4 2971 c.2373C>T c.(2371-2373)AGC>AGT p.S791S NM_003489 NP_003480 P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 791 Repression domain 3. androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity 0 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) AGGCAGGTGCGCTTCTCTGCA 0.468 GRIK1 2897 broad.mit.edu 37 21 30949413 30949413 + Silent SNP C C T rs142518822 byFrequency TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr21:30949413C>T uc002yno.1 - 14 2465 c.2001G>A c.(1999-2001)ACG>ACA p.T667T GRIK1_uc002ynn.2_Silent_p.T652T|GRIK1_uc011acs.1_Silent_p.T667T|GRIK1_uc011act.1_Silent_p.T528T NM_000830 NP_000821 P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 667 Helical; (Potential). central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity large_intestine(1)|ovary(1)|skin(1) 3 L-Glutamic Acid(DB00142)|Topiramate(DB00273) CCAGATTGGCCGTGTAGGATG 0.463 KRTAP15-1 254950 broad.mit.edu 37 21 31812904 31812904 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr21:31812904C>T uc002yod.2 + 1 259 c.259C>T c.(259-261)CGC>TGC p.R87C NM_181623 NP_853654 Q3LI76 KR151_HUMAN keratin associated protein 15-1 87 intermediate filament 0 CTGCAGTCCCCGCCAGACTAA 0.522 TIAM1 7074 broad.mit.edu 37 21 32493037 32493037 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr21:32493037G>A uc002yow.1 - 29 4897 c.4425C>T c.(4423-4425)CCC>CCT p.P1475P TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Silent_p.P1415P NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1475 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 CCCCACCACCGGGGGGCTGCT 0.572 GART 2618 broad.mit.edu 37 21 34903066 34903066 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr21:34903066T>C uc002yrx.2 - 7 857 c.722A>G c.(721-723)CAG>CGG p.Q241R GART_uc002yrz.2_Missense_Mutation_p.Q241R|GART_uc010gmd.2_5'UTR|GART_uc002yry.2_Missense_Mutation_p.Q241R|GART_uc002ysa.2_Missense_Mutation_p.Q241R NM_000819 NP_000810 P22102 PUR2_HUMAN phosphoribosylglycinamide formyltransferase, 241 ATP-grasp. 'de novo' IMP biosynthetic process|purine base biosynthetic process cytosol ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding ovary(1) 1 Pemetrexed(DB00642) GGGAAGTACCTGAGGGGCTGG 0.483 SIM2 6493 broad.mit.edu 37 21 38115733 38115733 + Silent SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr21:38115733C>A uc002yvr.2 + 9 1100 c.1044C>A c.(1042-1044)TCC>TCA p.S348S SIM2_uc002yvq.2_Silent_p.S348S NM_005069 NP_005060 Q14190 SIM2_HUMAN single-minded homolog 2 long isoform 348 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(1) 1 AGCAGGTGTCCACTGCCAAGT 0.537 TTC3 7267 broad.mit.edu 37 21 38498385 38498385 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr21:38498385G>A uc002yvz.2 + 15 1344 c.1239G>A c.(1237-1239)GCG>GCA p.A413A TTC3_uc011aee.1_Silent_p.A103A|TTC3_uc002ywa.2_Silent_p.A413A|TTC3_uc002ywb.2_Silent_p.A413A|TTC3_uc010gnf.2_Silent_p.A178A|TTC3_uc002ywc.2_Silent_p.A103A|TTC3_uc011aed.1_Silent_p.A103A|TTC3_uc010gne.1_Silent_p.A413A NM_001001894 NP_001001894 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 413 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(3)|ovary(2)|lung(2)|breast(2) 9 Myeloproliferative disorder(46;0.0412) GGCAGGTGGCGGATGAGGCGT 0.328 DSCR3 10311 broad.mit.edu 37 21 38600102 38600102 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr21:38600102C>T uc002ywf.1 - 8 903 c.664G>A c.(664-666)GCA>ACA p.A222T DSCR3_uc010gnm.1_RNA|DSCR3_uc010gnn.1_Missense_Mutation_p.A180T|DSCR3_uc010gnl.2_Missense_Mutation_p.A195T|DSCR3_uc011aeg.1_Missense_Mutation_p.A145T|DSCR3_uc011aeh.1_Missense_Mutation_p.A97T NM_006052 NP_006043 O14972 DSCR3_HUMAN Down syndrome critical region protein 3 222 vacuolar transport nucleus|retromer complex 0 TAGCCTTCTGCACACCCTGCG 0.642 RIPK4 54101 broad.mit.edu 37 21 43161498 43161498 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr21:43161498C>T uc002yzn.1 - 8 1903 c.1855G>A c.(1855-1857)GTG>ATG p.V619M NM_020639 NP_065690 P57078 RIPK4_HUMAN ankyrin repeat domain 3 619 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1) 7 ATGCGGGCCACGCGGTAGTGC 0.687 UMODL1 89766 broad.mit.edu 37 21 43531694 43531694 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr21:43531694G>T uc002zaf.1 + 12 1978 c.1978G>T c.(1978-1980)GCC>TCC p.A660S UMODL1_uc002zad.1_Missense_Mutation_p.A588S|UMODL1_uc002zae.1_Missense_Mutation_p.A716S|UMODL1_uc002zag.1_Missense_Mutation_p.A788S NM_001004416 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 isoform 1 precursor 660 Extracellular (Potential). cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity ovary(2)|skin(1) 3 CCTGTGGCATGCCACCCGTTC 0.617 CBS 875 broad.mit.edu 37 21 44480625 44480625 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr21:44480625G>A uc002zcu.2 - 12 1316 c.1071C>T c.(1069-1071)GCC>GCT p.A357A CBS_uc002zcs.1_Silent_p.A252A|CBS_uc002zct.2_Silent_p.A357A|CBS_uc002zcw.3_Silent_p.A357A|CBS_uc002zcv.2_Silent_p.A357A|CBS_uc002zcx.2_5'UTR NM_000071 NP_000062 P35520 CBS_HUMAN cystathionine-beta-synthase 357 cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process cytosol|nucleolus cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding 0 L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118) CGGCCTTCACGGCCACCGCCA 0.652 RRP1 8568 broad.mit.edu 37 21 45219516 45219516 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr21:45219516G>A uc002zds.2 + 9 970 c.877G>A c.(877-879)GGC>AGC p.G293S RRP1_uc011aez.1_Missense_Mutation_p.G293S|RRP1_uc010gpk.1_Missense_Mutation_p.G143S|RRP1_uc010gpl.1_Missense_Mutation_p.G191S|RRP1_uc010gpm.1_Missense_Mutation_p.G160S NM_003683 NP_003674 P56182 RRP1_HUMAN ribosomal RNA processing 1 homolog 293 rRNA processing nucleolus|preribosome, small subunit precursor 0 COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171) GGACAGTGGCGGCCCCGTTCT 0.637 PWP2 5822 broad.mit.edu 37 21 45535691 45535691 + Silent SNP A A G rs145366296 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr21:45535691A>G uc002zeb.2 + 7 816 c.726A>G c.(724-726)GAA>GAG p.E242E NM_005049 NP_005040 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog 242 Poly-Glu. cytoplasm|nucleolus signal transducer activity pancreas(1) 1 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) Gggaggaggaagaggaggagg 0.517 TRPM2 7226 broad.mit.edu 37 21 45798982 45798982 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr21:45798982G>A uc002zet.1 + 9 1330 c.1117G>A c.(1117-1119)GAC>AAC p.D373N TRPM2_uc002zeu.1_Missense_Mutation_p.D373N|TRPM2_uc002zew.1_Missense_Mutation_p.D373N|TRPM2_uc010gpt.1_Missense_Mutation_p.D373N|TRPM2_uc002zex.1_Missense_Mutation_p.D159N NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 373 Cytoplasmic (Potential). integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 GCCTGTCTCGGACATCACTAT 0.582 TRPM2 7226 broad.mit.edu 37 21 45825802 45825802 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr21:45825802C>T uc002zet.1 + 19 2885 c.2672C>T c.(2671-2673)ACG>ATG p.T891M TRPM2_uc002zeu.1_Missense_Mutation_p.T891M|TRPM2_uc002zew.1_Missense_Mutation_p.T891M|TRPM2_uc010gpt.1_Missense_Mutation_p.T891M|TRPM2_uc002zex.1_Missense_Mutation_p.T677M|TRPM2_uc002zey.1_Missense_Mutation_p.T404M NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 891 Helical; (Potential). integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 ATCCCGGCGACGCTGTACCCC 0.637 ADARB1 104 broad.mit.edu 37 21 46596311 46596311 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr21:46596311G>T uc002zgy.2 + 4 1130 c.695G>T c.(694-696)AGT>ATT p.S232I ADARB1_uc002zgr.2_Missense_Mutation_p.S232I|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Missense_Mutation_p.S232I|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Missense_Mutation_p.S232I|ADARB1_uc010gpx.2_Intron|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA|ADARB1_uc011afo.1_Missense_Mutation_p.S281I NM_015833 NP_056648 P78563 RED1_HUMAN RNA-specific adenosine deaminase B1 isoform 2 232 DRBM 2. adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing nucleoplasm|nucleus double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding skin(1) 1 Colorectal(79;0.115) CCACCCCCGAGTGGGAAGAAT 0.597 PCBP3 54039 broad.mit.edu 37 21 47360075 47360075 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr21:47360075G>A uc002zhq.1 + 13 1166 c.1041G>A c.(1039-1041)CCG>CCA p.P347P PCBP3_uc002zhp.1_Silent_p.P327P|PCBP3_uc002zhs.1_Silent_p.P321P|PCBP3_uc002zhr.1_Silent_p.P346P|PCBP3_uc002zht.1_Silent_p.P337P NM_020528 NP_065389 P57721 PCBP3_HUMAN poly(rC) binding protein 3 isoform 1 347 KH 3. mRNA metabolic process cytosol|mitochondrion|nucleus|ribonucleoprotein complex DNA binding|RNA binding skin(1) 1 all_hematologic(128;0.24) Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649) CGGGGACCCCGGCCAACATCA 0.572 CCT8L2 150160 broad.mit.edu 37 22 17072267 17072267 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr22:17072267C>T uc002zlp.1 - 1 1434 c.1174G>A c.(1174-1176)GTC>ATC p.V392I NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 392 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CCGTGGTAGACGGCCTGCTCT 0.542 CCT8L2 150160 broad.mit.edu 37 22 17072678 17072678 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr22:17072678C>A uc002zlp.1 - 1 1023 c.763G>T c.(763-765)GCA>TCA p.A255S NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 255 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) GTTGCTGGTGCATTTGGATGG 0.507 DGCR2 9993 broad.mit.edu 37 22 19055664 19055664 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr22:19055664C>T uc002zoq.1 - 3 525 c.277G>A c.(277-279)GAC>AAC p.D93N DGCR2_uc002zor.1_5'UTR|DGCR2_uc011agr.1_Missense_Mutation_p.D52N NM_005137 NP_005128 P98153 IDD_HUMAN integral membrane protein DGCR2 precursor 93 Extracellular (Potential). cell adhesion|organ morphogenesis integral to membrane receptor activity|sugar binding large_intestine(1) 1 Colorectal(54;0.0993) TGCGAAGGGTCGCCTCCTCTG 0.627 HIRA 7290 broad.mit.edu 37 22 19379688 19379688 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr22:19379688G>A uc002zpf.1 - 9 1092 c.872C>T c.(871-873)GCG>GTG p.A291V HIRA_uc011agx.1_Missense_Mutation_p.A157V|HIRA_uc010grn.1_Missense_Mutation_p.A291V|HIRA_uc010gro.1_Missense_Mutation_p.A247V|HIRA_uc010grp.2_RNA NM_003325 NP_003316 P54198 HIRA_HUMAN HIR histone cell cycle regulation defective 291 WD 6. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1) 1 Colorectal(54;0.0993) GCTAGGCTTCGCAGAACTCCC 0.458 KLHL22 84861 broad.mit.edu 37 22 20819360 20819360 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr22:20819360G>A uc002zsl.1 - 4 1006 c.897C>T c.(895-897)TGC>TGT p.C299C KLHL22_uc011ahr.1_Silent_p.C156C|KLHL22_uc002zsm.1_Silent_p.C299C NM_032775 NP_116164 Q53GT1 KLH22_HUMAN kelch-like 299 Kelch 1. cell division Cul3-RING ubiquitin ligase complex lung(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) AGCCCACAACGCACTGGAAGT 0.617 LZTR1 8216 broad.mit.edu 37 22 21351217 21351217 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr22:21351217C>T uc002zto.2 + 20 2471 c.2368C>T c.(2368-2370)CGG>TGG p.R790W LZTR1_uc002ztn.2_Missense_Mutation_p.R749W|LZTR1_uc011ahy.1_Missense_Mutation_p.R771W|LZTR1_uc002ztp.2_Missense_Mutation_p.R96W NM_006767 NP_006758 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 790 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity ovary(2)|lung(2) 4 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) GGACATGAAGCGGCACTGCCT 0.617 PIWIL3 440822 broad.mit.edu 37 22 25145382 25145382 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr22:25145382A>G uc003abd.1 - 11 1740 c.1323T>C c.(1321-1323)AAT>AAC p.N441N PIWIL3_uc011ajx.1_Silent_p.N332N|PIWIL3_uc011ajy.1_Silent_p.N332N|PIWIL3_uc010gut.1_Silent_p.N441N NM_001008496 NP_001008496 Q7Z3Z3 PIWL3_HUMAN piwi-like 3 441 cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding ovary(3)|central_nervous_system(1) 4 CTTGTAGAGTATTGATGAATT 0.398 HPS4 89781 broad.mit.edu 37 22 26861510 26861510 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr22:26861510T>C uc003acl.2 - 10 1373 c.714A>G c.(712-714)GCA>GCG p.A238A HPS4_uc003aci.2_Silent_p.A233A|HPS4_uc003acj.2_Silent_p.A102A|HPS4_uc003ack.2_Silent_p.A29A|HPS4_uc003acn.2_Silent_p.A84A|HPS4_uc010gvd.1_Silent_p.A256A|HPS4_uc003ach.2_5'UTR NM_022081 NP_071364 Q9NQG7 HPS4_HUMAN light ear protein isoform a 238 lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting lysosome|melanosome|membrane fraction|platelet dense granule protein homodimerization activity 0 TCGGGGGCAATGCCGCTCCTG 0.527 Hermansky-Pudlak_syndrome HPS4 89781 broad.mit.edu 37 22 26868359 26868359 + Missense_Mutation SNP G G A rs150403254 by1000genomes TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr22:26868359G>A uc003acl.2 - 6 1069 c.410C>T c.(409-411)ACG>ATG p.T137M HPS4_uc003aci.2_Missense_Mutation_p.T132M|HPS4_uc003acj.2_Translation_Start_Site|HPS4_uc003ack.2_Translation_Start_Site|HPS4_uc003acn.2_Translation_Start_Site|HPS4_uc010gvd.1_Missense_Mutation_p.T137M|HPS4_uc003ach.2_Translation_Start_Site NM_022081 NP_071364 Q9NQG7 HPS4_HUMAN light ear protein isoform a 137 lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting lysosome|melanosome|membrane fraction|platelet dense granule protein homodimerization activity 0 GTCCCACTCCGTGCTCAGTTC 0.423 Hermansky-Pudlak_syndrome CRYBB1 1414 broad.mit.edu 37 22 27012211 27012211 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr22:27012211C>A uc003acy.1 - 2 143 c.73G>T c.(73-75)GGG>TGG p.G25W NM_001887 NP_001878 P53674 CRBB1_HUMAN crystallin, beta B1 25 N-terminal arm. visual perception structural constituent of eye lens ovary(1) 1 GGTGGGGCCCCCTTCCCCTTG 0.637 AP1B1 162 broad.mit.edu 37 22 29755831 29755831 + Silent SNP G G A rs143484030 byFrequency TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr22:29755831G>A uc003afj.2 - 4 445 c.261C>T c.(259-261)GCC>GCT p.A87A AP1B1_uc003afi.2_Silent_p.A87A|AP1B1_uc003afk.2_Silent_p.A87A|AP1B1_uc003afl.2_Silent_p.A87A NM_001127 NP_001118 Q10567 AP1B1_HUMAN adaptor-related protein complex 1 beta 1 subunit 87 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity ovary(1)|skin(1) 2 AGGTGTTGACGGCCATAATGG 0.547 OREG0026449 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) MYH9 4627 broad.mit.edu 37 22 36702620 36702620 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr22:36702620C>T uc003apg.2 - 16 2108 c.1877G>A c.(1876-1878)GGC>GAC p.G626D MYH9_uc003aph.1_Missense_Mutation_p.G490D NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 626 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 CTCCGACATGCCGGCCACCTG 0.637 T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated MYH9 4627 broad.mit.edu 37 22 36708256 36708256 + Silent SNP C C T rs145517108 byFrequency TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr22:36708256C>T uc003apg.2 - 14 1797 c.1566G>A c.(1564-1566)CCG>CCA p.P522P MYH9_uc003aph.1_Silent_p.P386P NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 522 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 CCAGAATGCCCGGGGGGCCTG 0.637 T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated PLA2G6 8398 broad.mit.edu 37 22 38525530 38525530 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr22:38525530C>T uc003auy.1 - 8 1253 c.1117G>A c.(1117-1119)GGA>AGA p.G373R PLA2G6_uc003auz.1_Missense_Mutation_p.G373R|PLA2G6_uc003ava.1_Missense_Mutation_p.G373R|PLA2G6_uc003avb.2_Missense_Mutation_p.G373R|PLA2G6_uc010gxk.1_RNA|PLA2G6_uc011ano.1_Missense_Mutation_p.G338R NM_003560 NP_003551 O60733 PA2G6_HUMAN phospholipase A2, group VI isoform a 373 ANK 7. cardiolipin biosynthetic process|cell death|lipid catabolic process centrosome|membrane ovary(1) 1 Melanoma(58;0.045) Quinacrine(DB01103) ACTTCTGCTCCGAACACGATG 0.542 KCNJ4 3761 broad.mit.edu 37 22 38823343 38823343 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr22:38823343G>A uc003avs.1 - 2 892 c.795C>T c.(793-795)ATC>ATT p.I265I KCNJ4_uc003avt.1_Silent_p.I265I NM_004981 NP_004972 P48050 IRK4_HUMAN potassium inwardly-rectifying channel J4 265 Cytoplasmic (By similarity). synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding 0 Melanoma(58;0.0286) TGTCCTCGTCGATCTCGTGGA 0.617 TAB1 10454 broad.mit.edu 37 22 39826041 39826041 + Silent SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr22:39826041G>T uc003axt.2 + 11 1378 c.1329G>T c.(1327-1329)CTG>CTT p.L443L TAB1_uc003axr.2_Silent_p.L519L|TAB1_uc011aok.1_Silent_p.L277L|TAB1_uc003axu.1_Intron NM_006116 NP_006107 Q15750 TAB1_HUMAN mitogen-activated protein kinase kinase kinase 7 443 activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane catalytic activity|protein binding breast(1) 1 CCTTAACCCTGCAGTCCACCA 0.672 EP300 2033 broad.mit.edu 37 22 41564766 41564766 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr22:41564766G>A uc003azl.3 + 25 4462 c.4067G>A c.(4066-4068)CGA>CAA p.R1356Q NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 1356 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 TTTCCATACCGAACCAAAGCC 0.468 T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome RANGAP1 5905 broad.mit.edu 37 22 41652106 41652106 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr22:41652106T>C uc003azs.2 - 9 2462 c.992A>G c.(991-993)AAC>AGC p.N331S RANGAP1_uc003azt.2_Missense_Mutation_p.N331S|RANGAP1_uc003azu.2_Missense_Mutation_p.N331S|RANGAP1_uc011aoz.1_Missense_Mutation_p.N276S NM_002883 NP_002874 P46060 RAGP1_HUMAN Ran GTPase activating protein 1 331 LRR 6. mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity 0 TCCCAGGGTGTTGCCTGCTCA 0.632 SCUBE1 80274 broad.mit.edu 37 22 43604220 43604220 + Silent SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr22:43604220C>A uc003bdt.1 - 20 2680 c.2592G>T c.(2590-2592)ACG>ACT p.T864T NM_173050 NP_766638 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 864 CUB. adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 5 all_neural(38;0.0414)|Ovarian(80;0.07) TGGTGATGGACGTGGGAGAGG 0.453 FBLN1 2192 broad.mit.edu 37 22 45972965 45972965 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr22:45972965G>A uc003bgj.1 + 16 2096 c.1949G>A c.(1948-1950)CGT>CAT p.R650H NM_006486 NP_006477 P23142 FBLN1_HUMAN fibulin 1 isoform D 650 interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding ovary(1)|central_nervous_system(1) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) ATCATCAAGCGTTACATGGAC 0.597 C22orf40 150383 broad.mit.edu 37 22 46643046 46643046 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr22:46643046C>T uc003bhe.2 - 3 227 c.186G>A c.(184-186)TCG>TCA p.S62S C22orf40_uc003bhc.2_Silent_p.S62S|C22orf40_uc003bhd.2_Silent_p.S62S|C22orf40_uc003bhf.2_RNA NM_207327 NP_997210 Q6NVV7 CV040_HUMAN hypothetical protein LOC150383 62 0 AACTGCAGCACGAGCCGAGGA 0.597 PKDREJ 10343 broad.mit.edu 37 22 46658051 46658051 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr22:46658051C>T uc003bhh.2 - 1 1169 c.1169G>A c.(1168-1170)CGA>CAA p.R390Q NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 390 Extracellular (Potential).|REJ. acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) CAGGATTATTCGATCCCCACC 0.567 GRAMD4 23151 broad.mit.edu 37 22 47064782 47064782 + Missense_Mutation SNP A A T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr22:47064782A>T uc003bhx.2 + 12 1100 c.1061A>T c.(1060-1062)TAC>TTC p.Y354F GRAMD4_uc010had.2_Missense_Mutation_p.Y293F NM_015124 NP_055939 Q6IC98 GRAM4_HUMAN death-inducing-protein 354 Helical; (Potential). apoptosis integral to membrane|mitochondrial membrane ovary(1) 1 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166) TTCTTCCCCTACCGCCTGGTG 0.617 TUBGCP6 85378 broad.mit.edu 37 22 50663014 50663014 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr22:50663014C>T uc003bkb.1 - 11 2503 c.1991G>A c.(1990-1992)CGT>CAT p.R664H TUBGCP6_uc003bka.1_5'Flank|TUBGCP6_uc010har.1_Missense_Mutation_p.R664H|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hat.1_5'UTR|TUBGCP6_uc003bkd.1_Missense_Mutation_p.R18H NM_020461 NP_065194 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 664 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding ovary(2)|central_nervous_system(2) 4 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) AATTTCCATACGTAATTCCTG 0.338 PLXNB2 23654 broad.mit.edu 37 22 50716155 50716155 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr22:50716155C>T uc003bkv.3 - 33 5167 c.5061G>A c.(5059-5061)CGG>CGA p.R1687R PLXNB2_uc003bkt.1_Silent_p.R479R|PLXNB2_uc003bku.1_Silent_p.R672R NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 1687 Cytoplasmic (Potential). regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TCACCCAGAACCGGAGCGGTA 0.642 PLXNB2 23654 broad.mit.edu 37 22 50728968 50728968 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr22:50728968C>T uc003bkv.3 - 3 152 c.46G>A c.(46-48)GCA>ACA p.A16T NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 16 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CTGGCACCTGCGCCCAGCAGG 0.677 SCO2 9997 broad.mit.edu 37 22 50962178 50962178 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr22:50962178G>A uc003bma.2 - 2 839 c.663C>T c.(661-663)ATC>ATT p.I221I SCO2_uc003blz.3_Silent_p.I221I NM_005138 NP_005129 O43819 SCO2_HUMAN cytochrome oxidase deficient homolog 2 221 Thioredoxin. cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly mitochondrial inner membrane copper ion binding 0 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) AGTGGTCCACGATGTAGTCCT 0.572 SHANK3 85358 broad.mit.edu 37 22 51160465 51160465 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr22:51160465G>A uc003bne.1 + 22 4252 c.4252G>A c.(4252-4254)GGA>AGA p.G1418R SHANK3_uc003bnf.1_Missense_Mutation_p.G865R|SHANK3_uc010hbg.1_Missense_Mutation_p.G600R NM_001080420 NP_001073889 F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 1418 central_nervous_system(1) 1 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) CTTCGCTGACGGACACACTTT 0.617 GRM7 2917 broad.mit.edu 37 3 7503408 7503408 + Missense_Mutation SNP A A T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:7503408A>T uc003bqm.2 + 7 1788 c.1514A>T c.(1513-1515)AAT>ATT p.N505I GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.N505I|GRM7_uc003bql.2_Missense_Mutation_p.N505I|GRM7_uc003bqn.1_Missense_Mutation_p.N88I|GRM7_uc010hch.1_5'UTR NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 505 Extracellular (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) CTTCAGCTCAATGTGAGTTCT 0.443 RFTN1 23180 broad.mit.edu 37 3 16358730 16358730 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:16358730G>A uc003cay.2 - 10 1624 c.1342C>T c.(1342-1344)CGA>TGA p.R448* RFTN1_uc010hes.2_Nonsense_Mutation_p.R412*|OXNAD1_uc003cax.2_Intron|OXNAD1_uc011awb.1_Intron NM_015150 NP_055965 Q14699 RFTN1_HUMAN raft-linking protein 448 plasma membrane p.R448*(1) ovary(3)|central_nervous_system(1) 4 CTGGAGAATCGCCACTGAAAC 0.438 PLCL2 23228 broad.mit.edu 37 3 17051544 17051544 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:17051544G>A uc011awc.1 + 5 787 c.682G>A c.(682-684)GCA>ACA p.A228T PLCL2_uc010het.1_Missense_Mutation_p.A110T|PLCL2_uc011awd.1_Missense_Mutation_p.A110T NM_001144382 NP_001137854 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 isoform 1 236 PH. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity skin(2)|ovary(1)|lung(1) 4 TGCCAACTCCGCAGATGTTGC 0.413 RAB5A 5868 broad.mit.edu 37 3 20025266 20025266 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:20025266A>G uc003cbn.2 + 6 1134 c.599A>G c.(598-600)GAC>GGC p.D200G RAB5A_uc010hey.2_RNA|RAB5A_uc011awg.1_Missense_Mutation_p.D186G|C3orf48_uc010hez.2_Intron NM_004162 NP_004153 P20339 RAB5A_HUMAN RAB5A, member RAS oncogene family 200 blood coagulation|protein transport|receptor internalization|regulation of filopodium assembly|small GTPase mediated signal transduction early endosome membrane|melanosome|plasma membrane GDP binding|GTP binding|GTPase activity 0 AGAGGAGTAGACCTTACCGAA 0.368 KAT2B 8850 broad.mit.edu 37 3 20153198 20153198 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:20153198G>A uc003cbq.2 + 6 1408 c.962G>A c.(961-963)CGA>CAA p.R321Q NM_003884 NP_003875 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B 321 cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 GTTATGAGGCGACAACTCCTG 0.463 SGOL1 151648 broad.mit.edu 37 3 20225413 20225413 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:20225413C>T uc003cbs.2 - 2 294 c.107G>A c.(106-108)CGC>CAC p.R36H SGOL1_uc003cbr.2_Missense_Mutation_p.R36H|SGOL1_uc010hfa.2_Missense_Mutation_p.R36H|SGOL1_uc003cbt.2_Missense_Mutation_p.R36H|SGOL1_uc003cbu.2_Missense_Mutation_p.R36H|SGOL1_uc003cbv.2_Missense_Mutation_p.R36H|SGOL1_uc003cbw.2_Missense_Mutation_p.R36H|SGOL1_uc003cbx.2_Missense_Mutation_p.R36H|SGOL1_uc003cby.2_Missense_Mutation_p.R36H|SGOL1_uc003cbz.2_Missense_Mutation_p.R36H|SGOL1_uc003cca.2_Missense_Mutation_p.R36H|SGOL1_uc003ccb.2_Missense_Mutation_p.R36H|SGOL1_uc003ccc.2_Missense_Mutation_p.R36H NM_001012410 NP_001012410 Q5FBB7 SGOL1_HUMAN shugoshin-like 1 isoform A2 36 Potential.|Necessary for interaction with PPP2CA and PPP2R1A. attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole protein binding 0 AAAAGACCTGCGTTTGCCAAT 0.318 PDCD6IP 10015 broad.mit.edu 37 3 33877588 33877588 + Missense_Mutation SNP A A T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:33877588A>T uc003cfx.2 + 8 1042 c.887A>T c.(886-888)AAT>ATT p.N296I PDCD6IP_uc003cfy.2_Missense_Mutation_p.N301I|PDCD6IP_uc011axw.1_Missense_Mutation_p.N77I NM_013374 NP_037506 Q8WUM4 PDC6I_HUMAN programmed cell death 6 interacting protein 296 Interaction with EIAV p9.|Interaction with CHMP4A, CHMP4B and CHMP4C.|BRO1. apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport cytosol|melanosome|microtubule organizing center calcium-dependent protein binding ovary(1)|skin(1) 2 GAATATGTTAATGTGAAGGAT 0.358 LRRFIP2 9209 broad.mit.edu 37 3 37170567 37170567 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:37170567C>T uc003cgp.2 - 4 587 c.164G>A c.(163-165)CGA>CAA p.R55Q LRRFIP2_uc011ayf.1_Missense_Mutation_p.R55Q|LRRFIP2_uc003cgr.2_Missense_Mutation_p.R55Q|LRRFIP2_uc003cgs.3_Missense_Mutation_p.R55Q|LRRFIP2_uc003cgt.3_Missense_Mutation_p.R55Q NM_006309 NP_006300 Q9Y608 LRRF2_HUMAN leucine rich repeat (in FLII) interacting 55 DVL3-binding. Wnt receptor signaling pathway LRR domain binding ovary(1) 1 TTTTTGTTGTCGTTCCAGTTC 0.428 XYLB 9942 broad.mit.edu 37 3 38414150 38414150 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:38414150C>T uc003cic.2 + 10 879 c.770C>T c.(769-771)GCC>GTC p.A257V XYLB_uc011ayp.1_Missense_Mutation_p.A120V|XYLB_uc003cid.1_Missense_Mutation_p.A179V NM_005108 NP_005099 O75191 XYLB_HUMAN xylulokinase 257 D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process ATP binding|xylulokinase activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405) CCTCAGGGAGCCATTTCTTCC 0.572 ZNF167 55888 broad.mit.edu 37 3 44612793 44612793 + Missense_Mutation SNP C C T rs148767433 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:44612793C>T uc010hin.2 + 6 2579 c.2191C>T c.(2191-2193)CGT>TGT p.R731C ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Intron|ZNF167_uc003cnj.2_Missense_Mutation_p.R731C|ZNF167_uc003cnk.2_Intron NM_018651 NP_061121 Q9P0L1 ZN167_HUMAN zinc finger protein 167 isoform 1 731 C2H2-type 13. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609) CTTTAGTCAGCGTTCCACTTT 0.463 PTH1R 5745 broad.mit.edu 37 3 46943318 46943318 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:46943318C>T uc003cqm.2 + 13 1382 c.1179C>T c.(1177-1179)AAC>AAT p.N393N PTH1R_uc003cqn.2_Silent_p.N393N NM_000316 NP_000307 Q03431 PTH1R_HUMAN parathyroid hormone receptor 1 precursor 393 Cytoplasmic (Potential). cytoplasm|integral to plasma membrane|nucleus parathyroid hormone receptor activity|peptide hormone binding|protein self-association breast(1) 1 GGGAGACCAACGCCGGCCGGT 0.642 Ollier_disease_/_Maffuci_syndrome NBEAL2 23218 broad.mit.edu 37 3 47050494 47050494 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:47050494G>A uc003cqp.2 + 53 8222 c.8043G>A c.(8041-8043)GCG>GCA p.A2681A NRADDP_uc011bas.1_5'Flank|NBEAL2_uc010hjm.1_Silent_p.A2058A|NBEAL2_uc010hjn.1_Silent_p.A1047A|NBEAL2_uc010hjo.1_Silent_p.A241A NM_015175 NP_055990 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 2681 binding ovary(1) 1 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) TCCCGGCCGCGCCTCCCTTGC 0.622 ARIH2 10425 broad.mit.edu 37 3 49004710 49004710 + Splice_Site SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:49004710T>C uc003cvb.2 + 6 850 c.538_splice c.e6+2 p.G180_splice ARIH2_uc003cvc.2_Splice_Site_p.G180_splice|ARIH2_uc003cvf.2_Splice_Site_p.G98_splice|ARIH2_uc010hkl.2_Splice_Site_p.G180_splice NM_006321 NP_006312 O95376 ARI2_HUMAN ariadne homolog 2 developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269) TGGGCGTGGGTGAGTCTGCCA 0.488 LAMB2 3913 broad.mit.edu 37 3 49159606 49159606 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:49159606G>A uc003cwe.2 - 28 5070 c.4771C>T c.(4771-4773)CGG>TGG p.R1591W USP19_uc003cvz.3_5'Flank|USP19_uc011bcg.1_5'Flank|USP19_uc003cwb.2_5'Flank|USP19_uc003cwd.1_5'Flank|USP19_uc011bch.1_5'Flank|USP19_uc011bci.1_5'Flank NM_002292 NP_002283 P55268 LAMB2_HUMAN laminin, beta 2 precursor 1591 Potential.|Domain I. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CTTGCCCGCCGTGCATCCTGC 0.612 AMIGO3 386724 broad.mit.edu 37 3 49756307 49756307 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:49756307T>C uc003cxj.2 - 1 932 c.592A>G c.(592-594)ATC>GTC p.I198V RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron NM_198722 NP_942015 Q86WK7 AMGO3_HUMAN adhesion molecule with Ig-like domain 3 198 Extracellular (Potential).|LRR 6. heterophilic cell-cell adhesion integral to membrane pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GGTACGGAGATGTGTCCCAGC 0.627 OREG0015572 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) CAMKV 79012 broad.mit.edu 37 3 49897038 49897038 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:49897038C>T uc003cxt.1 - 11 1412 c.1219G>A c.(1219-1221)GAT>AAT p.D407N CAMKV_uc011bcy.1_Missense_Mutation_p.D332N|CAMKV_uc003cxv.1_Missense_Mutation_p.D379N|CAMKV_uc003cxw.1_Missense_Mutation_p.D239N|CAMKV_uc003cxx.1_Missense_Mutation_p.D239N|CAMKV_uc003cxu.2_Missense_Mutation_p.D376N|CAMKV_uc011bcz.1_Missense_Mutation_p.D339N|CAMKV_uc011bda.1_Missense_Mutation_p.D333N NM_024046 NP_076951 Q8NCB2 CAMKV_HUMAN CaM kinase-like vesicle-associated 407 Ala-rich. cytoplasmic vesicle membrane|plasma membrane ATP binding|protein serine/threonine kinase activity ovary(2)|lung(2)|large_intestine(2)|central_nervous_system(1) 7 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) ATGCTTCCATCGGTGGCTGGG 0.607 RBM6 10180 broad.mit.edu 37 3 50099537 50099537 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:50099537C>T uc003cyc.2 + 15 2715 c.2582C>T c.(2581-2583)ACG>ATG p.T861M RBM6_uc010hlc.1_Missense_Mutation_p.T380M|RBM6_uc003cyd.2_Missense_Mutation_p.T339M|RBM6_uc003cye.2_Missense_Mutation_p.T339M|RBM6_uc011bdi.1_Missense_Mutation_p.T203M|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA NM_005777 NP_005768 P78332 RBM6_HUMAN RNA binding motif protein 6 861 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) AGAGGAGTGACGAGGGTAAGA 0.378 SEMA3F 6405 broad.mit.edu 37 3 50211341 50211341 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:50211341C>T uc003cyj.2 + 3 426 c.228C>T c.(226-228)TAC>TAT p.Y76Y SEMA3F_uc003cyk.2_Silent_p.Y76Y NM_004186 NP_004177 Q13275 SEM3F_HUMAN semaphorin 3F precursor 76 Sema. axon guidance extracellular space|membrane chemorepellent activity|receptor activity lung(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) GCAAGGACTACGTGCTGTCCC 0.617 RASSF1 11186 broad.mit.edu 37 3 50369011 50369011 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:50369011G>A uc003dad.1 - 4 882 c.751C>T c.(751-753)CGC>TGC p.R251C RASSF1_uc003daa.1_Missense_Mutation_p.R96C|RASSF1_uc003dab.1_Missense_Mutation_p.R177C|RASSF1_uc003dac.2_Missense_Mutation_p.R96C|RASSF1_uc003dae.1_Missense_Mutation_p.R247C|RASSF1_uc010hlk.1_RNA|RASSF1_uc003daf.1_Missense_Mutation_p.R96C NM_170714 NP_733832 Q9NS23 RASF1_HUMAN Ras association domain family 1 isoform D 251 Ras-associating. cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole identical protein binding|protein binding|protein N-terminus binding|zinc ion binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) CGCTCAGCGCGCTCAAAGAGT 0.607 NISCH 11188 broad.mit.edu 37 3 52522196 52522196 + Silent SNP G G A rs113789685 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:52522196G>A uc011beg.1 + 17 2760 c.2688G>A c.(2686-2688)GCG>GCA p.A896A NISCH_uc003ded.3_Silent_p.A896A|NISCH_uc003dee.3_Silent_p.A385A|NISCH_uc003deg.1_RNA|NISCH_uc003deh.3_5'Flank NM_007184 NP_009115 Q9Y2I1 NISCH_HUMAN nischarin 896 apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity ovary(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) CCTGCTGCGCGCCCTCTGAGG 0.657 STAB1 23166 broad.mit.edu 37 3 52557277 52557277 + Missense_Mutation SNP G G A rs137992546 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:52557277G>A uc003dej.2 + 64 7134 c.7060G>A c.(7060-7062)GAC>AAC p.D2354N STAB1_uc003dek.1_Missense_Mutation_p.D369N|STAB1_uc003del.2_Missense_Mutation_p.D241N NM_015136 NP_055951 Q9NY15 STAB1_HUMAN stabilin 1 precursor 2354 Extracellular (Potential).|FAS1 7. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 9 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GCGGGGTCTCGACTTCCTGGA 0.567 PBRM1 55193 broad.mit.edu 37 3 52595936 52595936 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:52595936G>A uc003des.2 - 25 4147 c.4135C>T c.(4135-4137)CGG>TGG p.R1379W PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.R1379W|PBRM1_uc003der.2_Missense_Mutation_p.R1347W|PBRM1_uc003det.2_Missense_Mutation_p.R1394W|PBRM1_uc003deu.2_Missense_Mutation_p.R1394W|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.R1379W|PBRM1_uc010hmk.1_Missense_Mutation_p.R1354W|PBRM1_uc003dey.2_Missense_Mutation_p.R1327W|PBRM1_uc003dez.1_Missense_Mutation_p.R1378W NM_181042 NP_060635 Q86U86 PB1_HUMAN polybromo 1 isoform 4 1379 HMG box. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding kidney(136)|breast(4) 140 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) TTGATTTTCCGTTTGGAGCCT 0.478 Mis|N|F|S|D|O clear cell renal carcinoma|breast SFMBT1 51460 broad.mit.edu 37 3 52941285 52941285 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:52941285C>A uc003dgf.2 - 20 2700 c.2131G>T c.(2131-2133)GAT>TAT p.D711Y SFMBT1_uc010hmr.2_Missense_Mutation_p.D658Y|SFMBT1_uc003dgg.2_Missense_Mutation_p.D711Y|SFMBT1_uc003dgh.2_Missense_Mutation_p.D711Y NM_001005159 NP_001005159 Q9UHJ3 SMBT1_HUMAN Scm-like with four mbt domains 1 711 regulation of transcription, DNA-dependent nucleus ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) CTTAGGGAATCATCATCCCCT 0.473 CADPS 8618 broad.mit.edu 37 3 62477973 62477973 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:62477973C>T uc003dll.2 - 20 3236 c.2876G>A c.(2875-2877)CGT>CAT p.R959H CADPS_uc003dlk.1_Missense_Mutation_p.R456H|CADPS_uc003dlm.2_Missense_Mutation_p.R969H|CADPS_uc003dln.2_Missense_Mutation_p.R929H NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Ca2+-dependent secretion activator isoform 1 959 MHD1.|Interaction with DRD2. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding central_nervous_system(2)|ovary(1) 3 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) ACAGTCAGTACGGAGAAAATC 0.428 PDZRN3 23024 broad.mit.edu 37 3 73432742 73432742 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:73432742C>T uc003dpl.1 - 10 3071 c.2975G>A c.(2974-2976)CGC>CAC p.R992H PDZRN3_uc011bgh.1_Missense_Mutation_p.R649H|PDZRN3_uc010hoe.1_Missense_Mutation_p.R690H|PDZRN3_uc011bgf.1_Missense_Mutation_p.R709H|PDZRN3_uc011bgg.1_Missense_Mutation_p.R712H NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 992 Potential. 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) CATGAACTCGCGCCGCCGCCG 0.577 PDZRN3 23024 broad.mit.edu 37 3 73432975 73432975 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:73432975C>T uc003dpl.1 - 10 2838 c.2742G>A c.(2740-2742)CCG>CCA p.P914P PDZRN3_uc011bgh.1_Silent_p.P571P|PDZRN3_uc010hoe.1_Silent_p.P612P|PDZRN3_uc011bgf.1_Silent_p.P631P|PDZRN3_uc011bgg.1_Silent_p.P634P NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 914 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) GCGGCTCCGACGGGGTGGGAG 0.657 ROBO1 6091 broad.mit.edu 37 3 78685077 78685077 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:78685077G>A uc003dqe.2 - 23 3427 c.3219C>T c.(3217-3219)TAC>TAT p.Y1073Y ROBO1_uc003dqb.2_Silent_p.Y1034Y|ROBO1_uc003dqc.2_Silent_p.Y973Y|ROBO1_uc003dqd.2_Silent_p.Y1028Y|ROBO1_uc010hoh.2_Silent_p.Y265Y|ROBO1_uc011bgl.1_Silent_p.Y645Y NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a 1073 Cytoplasmic (Potential). activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding large_intestine(2) 2 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) GAGTGGTGGCGTAAGGAGTAG 0.488 C3orf26 84319 broad.mit.edu 37 3 99890707 99890707 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:99890707C>T uc003dtl.2 + 7 686 c.543C>T c.(541-543)GAC>GAT p.D181D NM_032359 NP_115735 Q9BQ75 CC026_HUMAN hypothetical protein LOC84319 181 ATP binding|ATP-dependent helicase activity|nucleic acid binding skin(1) 1 TCAGAGGAGACGGCAAAGTTA 0.418 DPPA4 55211 broad.mit.edu 37 3 109050737 109050737 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:109050737T>C uc003dxq.3 - 3 375 c.320A>G c.(319-321)AAG>AGG p.K107R DPPA4_uc011bho.1_Missense_Mutation_p.K107R|DPPA4_uc011bhp.1_Missense_Mutation_p.K107R NM_018189 NP_060659 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 107 nucleus protein binding upper_aerodigestive_tract(1) 1 GGAGCTCAGCTTCAATTGTTG 0.507 GSK3B 2932 broad.mit.edu 37 3 119631658 119631658 + Splice_Site SNP C C G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:119631658C>G uc003edo.2 - 6 1592 c.609_splice c.e6-1 p.S203_splice GSK3B_uc003edn.2_Splice_Site_p.S203_splice NM_001146156 NP_001139628 P49841 GSK3B_HUMAN glycogen synthase kinase 3 beta isoform 2 axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding lung(2) 2 GBM - Glioblastoma multiforme(114;0.24) Lithium(DB01356) CTGCTTTGCACTAACAGAAAA 0.353 POLQ 10721 broad.mit.edu 37 3 121230875 121230875 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:121230875G>A uc003eee.3 - 10 1599 c.1470C>T c.(1468-1470)GGC>GGT p.G490G NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 490 Helicase C-terminal. DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) AGATACTCTCGCCTATAACCA 0.378 DNA_polymerases_(catalytic_subunits) WDR5B 54554 broad.mit.edu 37 3 122134419 122134419 + Translation_Start_Site SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:122134419C>A uc003efa.1 - 1 464 c.-43G>T c.(-45--41)CAGGG>CATGG NM_019069 NP_061942 Q86VZ2 WDR5B_HUMAN WD repeat domain 5B ovary(3) 3 GBM - Glioblastoma multiforme(114;0.0704) GCGTTCAGCCCTGAACCAGGC 0.483 ADCY5 111 broad.mit.edu 37 3 123051470 123051470 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:123051470C>T uc003egh.1 - 4 1459 c.1459G>A c.(1459-1461)GCA>ACA p.A487T ADCY5_uc003egg.1_Missense_Mutation_p.A120T|ADCY5_uc003egi.1_Missense_Mutation_p.A46T NM_183357 NP_899200 O95622 ADCY5_HUMAN adenylate cyclase 5 487 Guanylate cyclase 1.|Cytoplasmic (Potential). activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4) 4 GBM - Glioblastoma multiforme(114;0.0342) AGTTCCTGTGCAGTGCACTGG 0.572 MYLK 4638 broad.mit.edu 37 3 123427553 123427553 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:123427553G>A uc003ego.2 - 15 2414 c.2132C>T c.(2131-2133)ACG>ATG p.T711M MYLK_uc011bjw.1_Missense_Mutation_p.T711M|MYLK_uc003egp.2_Missense_Mutation_p.T642M|MYLK_uc003egq.2_Missense_Mutation_p.T711M|MYLK_uc003egr.2_Missense_Mutation_p.T642M|MYLK_uc003egs.2_Missense_Mutation_p.T535M NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 711 Ig-like C2-type 5. 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) ACCTTGTACCGTGAGCACGGC 0.602 ITGB5 3693 broad.mit.edu 37 3 124485139 124485139 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:124485139C>T uc003eho.2 - 13 2368 c.2071G>A c.(2071-2073)GTC>ATC p.V691I ITGB5_uc010hrx.2_RNA NM_002213 NP_002204 P18084 ITB5_HUMAN integrin, beta 5 precursor 691 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction integrin complex receptor activity skin(2) 2 GBM - Glioblastoma multiforme(114;0.163) AACATCATGACGCAGTCCTTG 0.572 KLF15 28999 broad.mit.edu 37 3 126062587 126062587 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:126062587C>T uc011bkk.1 - 3 1416 c.1234G>A c.(1234-1236)GTG>ATG p.V412M NM_014079 NP_054798 Q9UIH9 KLF15_HUMAN Kruppel-like factor 15 412 nucleus DNA binding|zinc ion binding lung(1) 1 GBM - Glioblastoma multiforme(114;0.147) ACGGAGCGCACGGAGCGGCTG 0.592 XRN1 54464 broad.mit.edu 37 3 142122802 142122802 + Missense_Mutation SNP C C T rs138660782 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:142122802C>T uc003eus.2 - 17 1980 c.1913G>A c.(1912-1914)CGT>CAT p.R638H XRN1_uc010huu.2_Missense_Mutation_p.R104H|XRN1_uc003eut.2_Missense_Mutation_p.R638H|XRN1_uc003euu.2_Missense_Mutation_p.R638H|XRN1_uc003euv.1_Missense_Mutation_p.R499H NM_019001 NP_061874 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 isoform a 638 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding ovary(3) 3 TATGTCTACACGCCAAGCATC 0.299 PAQR9 344838 broad.mit.edu 37 3 142681763 142681763 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:142681763G>A uc003evg.2 - 1 416 c.416C>T c.(415-417)GCG>GTG p.A139V PAQR9_uc003evf.1_5'Flank NM_198504 NP_940906 Q6ZVX9 PAQR9_HUMAN progestin and adipoQ receptor family member IX 139 Cytoplasmic (Potential). integral to membrane receptor activity 0 GAACACGTGCGCCGTGCAGCT 0.657 PLSCR1 5359 broad.mit.edu 37 3 146254325 146254325 + Splice_Site SNP A A C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:146254325A>C uc003evx.3 - 2 401 c.13_splice c.e2+1 p.N5_splice PLSCR1_uc003evy.3_Intron|PLSCR1_uc011bnn.1_Splice_Site|PLSCR1_uc003evz.3_Splice_Site|PLSCR1_uc003ewa.2_Splice_Site_p.N5_splice NM_021105 NP_066928 O15162 PLS1_HUMAN phospholipid scramblase 1 phospholipid scrambling|platelet activation|response to virus integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding ovary(2) 2 TAAATTACTTACTTTGTTTGT 0.294 AADACL2 344752 broad.mit.edu 37 3 151458608 151458608 + Nonsense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:151458608C>T uc003ezc.2 + 2 433 c.313C>T c.(313-315)CGA>TGA p.R105* AADACL2_uc010hvn.2_Intron NM_207365 NP_997248 Q6P093 ADCL2_HUMAN arylacetamide deacetylase-like 2 precursor 105 extracellular region|integral to membrane carboxylesterase activity 0 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) AACCCGAAGGCGAGCTGTGAT 0.368 DHX36 170506 broad.mit.edu 37 3 154007599 154007599 + Missense_Mutation SNP A A T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:154007599A>T uc003ezy.3 - 16 1912 c.1831T>A c.(1831-1833)TGC>AGC p.C611S DHX36_uc010hvq.2_Missense_Mutation_p.C597S|DHX36_uc003ezz.3_Missense_Mutation_p.C611S NM_020865 NP_065916 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 611 Helicase C-terminal. cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) AGATGATAGCAATGACCAGGT 0.338 PLCH1 23007 broad.mit.edu 37 3 155301426 155301426 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:155301426G>A uc011bok.1 - 5 847 c.570C>T c.(568-570)GCC>GCT p.A190A PLCH1_uc011boj.1_Silent_p.A190A|PLCH1_uc011bol.1_Silent_p.A172A NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 190 EF-hand 2. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CATCTGTGTCGGCTTCCTGAA 0.328 RARRES1 5918 broad.mit.edu 37 3 158428614 158428614 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:158428614C>T uc003fci.2 - 3 519 c.448G>A c.(448-450)GAG>AAG p.E150K RARRES1_uc003fcj.2_Missense_Mutation_p.E150K NM_206963 NP_996846 P49788 TIG1_HUMAN retinoic acid receptor responder (tazarotene 150 Extracellular (Potential). negative regulation of cell proliferation integral to membrane 0 Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043) Tretinoin(DB00755) TTCTTTTTCTCGATGAGCCGT 0.423 ZBBX 79740 broad.mit.edu 37 3 167077712 167077712 + Missense_Mutation SNP T T G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:167077712T>G uc003fep.2 - 8 701 c.378A>C c.(376-378)AAA>AAC p.K126N ZBBX_uc011bpc.1_Missense_Mutation_p.K126N|ZBBX_uc003feq.2_Missense_Mutation_p.K97N NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 126 intracellular zinc ion binding ovary(2) 2 TTATCTTGGGTTTTTCACATT 0.303 SLC7A14 57709 broad.mit.edu 37 3 170204127 170204127 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:170204127C>T uc003fgz.2 - 5 1106 c.790G>A c.(790-792)GCT>ACT p.A264T CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron NM_020949 NP_066000 Q8TBB6 S7A14_HUMAN solute carrier family 7 (cationic amino acid 264 Helical; (Potential). integral to membrane amino acid transmembrane transporter activity ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1) 5 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) CCAATGAAAGCGTAGAAGCAT 0.517 SLC7A14 57709 broad.mit.edu 37 3 170218991 170218991 + Missense_Mutation SNP C C T rs146405741 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:170218991C>T uc003fgz.2 - 3 764 c.448G>A c.(448-450)GGA>AGA p.G150R CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron NM_020949 NP_066000 Q8TBB6 S7A14_HUMAN solute carrier family 7 (cationic amino acid 150 integral to membrane amino acid transmembrane transporter activity ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1) 5 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) GCACTGGCTCCGGCCGCAGTG 0.557 MCCC1 56922 broad.mit.edu 37 3 182743546 182743546 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:182743546C>T uc003fle.2 - 15 1865 c.1728G>A c.(1726-1728)ATG>ATA p.M576I MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_Intron|MCCC1_uc003flf.2_Missense_Mutation_p.M459I|MCCC1_uc003flg.2_Missense_Mutation_p.M467I|MCCC1_uc011bqp.1_Missense_Mutation_p.M529I NM_020166 NP_064551 Q96RQ3 MCCA_HUMAN methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) 576 biotin metabolic process|leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(143;1.84e-14)|Ovarian(172;0.0355) all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21) Biotin(DB00121) GGCTTACCTGCATGCTATAAG 0.373 AP2M1 1173 broad.mit.edu 37 3 183896808 183896808 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:183896808G>A uc011bqx.1 + 3 395 c.238G>A c.(238-240)GAA>AAA p.E80K AP2M1_uc003fmw.2_Missense_Mutation_p.E80K|AP2M1_uc003fmx.2_Missense_Mutation_p.E80K|AP2M1_uc003fmy.2_Missense_Mutation_p.E80K|AP2M1_uc011bqy.1_5'Flank|AP2M1_uc011bqz.1_5'Flank NM_004068 NP_004059 Q96CW1 AP2M1_HUMAN adaptor-related protein complex 2, mu 1 subunit 80 axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane lipid binding|protein binding|transporter activity 0 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CATGGTCTTCGAATTCCTCTA 0.483 THPO 7066 broad.mit.edu 37 3 184090371 184090371 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:184090371G>A uc003fol.1 - 6 1207 c.992C>T c.(991-993)ACG>ATG p.T331M THPO_uc003fom.1_Missense_Mutation_p.T327M|THPO_uc003fon.2_3'UTR|THPO_uc011bro.1_Missense_Mutation_p.T207M|THPO_uc003fop.2_3'UTR|THPO_uc011brp.1_Missense_Mutation_p.T144M NM_000460 NP_000451 P40225 TPO_HUMAN thrombopoietin precursor 331 Pro-rich. cell proliferation|platelet activation extracellular space cytokine activity|growth factor activity|hormone activity ovary(1) 1 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AGGGGTGGGCGTTGGAGCAGA 0.572 IGF2BP2 10644 broad.mit.edu 37 3 185375140 185375140 + Silent SNP G G A rs142081639 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:185375140G>A uc003fpo.2 - 12 1399 c.1320C>T c.(1318-1320)GGC>GGT p.G440G IGF2BP2_uc010hyi.2_Silent_p.G383G|IGF2BP2_uc010hyj.2_Silent_p.G377G|IGF2BP2_uc010hyk.2_Silent_p.G304G|IGF2BP2_uc010hyl.2_Silent_p.G334G|IGF2BP2_uc003fpp.2_Silent_p.G397G|IGF2BP2_uc003fpq.2_Silent_p.G445G NM_006548 NP_006539 Q9Y6M1 IF2B2_HUMAN insulin-like growth factor 2 mRNA binding 440 KH 3. anatomical structure morphogenesis|negative regulation of translation cytoskeletal part|cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity 0 all_cancers(143;5.84e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) CGATGATGGCGCCCACAGCCT 0.567 HRG 3273 broad.mit.edu 37 3 186395437 186395437 + Missense_Mutation SNP G G A rs149578094 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:186395437G>A uc003fqq.2 + 7 1366 c.1343G>A c.(1342-1344)CGT>CAT p.R448H NM_000412 NP_000403 P04196 HRG_HUMAN histidine-rich glycoprotein precursor 448 His/Pro-rich (HRR). fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding ovary(1)|central_nervous_system(1) 2 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) AAAGGACCCCGTCCCTTCCAT 0.567 LPP 4026 broad.mit.edu 37 3 188123957 188123957 + Missense_Mutation SNP G G A rs139718801 byFrequency TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:188123957G>A uc003frs.1 + 3 295 c.49G>A c.(49-51)GGC>AGC p.G17S LPP_uc011bsg.1_Missense_Mutation_p.G17S|LPP_uc011bsi.1_Missense_Mutation_p.G17S|LPP_uc003frt.2_Missense_Mutation_p.G17S NM_005578 NP_005569 Q93052 LPP_HUMAN LIM domain containing preferred translocation 17 cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1) 165 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) TGAGCCCCTCGGCCATGTGCC 0.502 T HMGA2|MLL|C12orf9 lipoma|leukemia GP5 2814 broad.mit.edu 37 3 194118379 194118379 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:194118379C>T uc003ftv.1 - 2 664 c.633G>A c.(631-633)TCG>TCA p.S211S NM_004488 NP_004479 P40197 GPV_HUMAN glycoprotein V (platelet) precursor 211 Extracellular (Potential).|LRR 6. blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane skin(2)|breast(1) 3 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) TCAACAGCCCCGAATCCAGAG 0.612 TNK2 10188 broad.mit.edu 37 3 195594978 195594978 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:195594978T>C uc003fvu.1 - 12 2689 c.2146A>G c.(2146-2148)AGG>GGG p.R716G TNK2_uc003fvq.1_Missense_Mutation_p.R123G|TNK2_uc003fvr.1_Missense_Mutation_p.R241G|TNK2_uc003fvs.1_Missense_Mutation_p.R748G|TNK2_uc003fvt.1_Missense_Mutation_p.R794G|TNK2_uc010hzw.1_RNA NM_005781 NP_005772 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 isoform 1 716 Pro-rich. Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1) 10 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) TGCAGTTGCCTCATGCACTCC 0.716 OSTalpha 200931 broad.mit.edu 37 3 195944785 195944785 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:195944785C>T uc003fwd.2 + 2 312 c.111C>T c.(109-111)CCC>CCT p.P37P OSTalpha_uc011btu.1_Silent_p.P37P NM_152672 NP_689885 Q86UW1 OSTA_HUMAN organic solute transporter alpha 37 integral to membrane|plasma membrane transporter activity ovary(1) 1 all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;8.83e-25)|all cancers(36;8.38e-23)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;7.51e-07)|Lung(62;1.06e-06) GBM - Glioblastoma multiforme(46;0.00202) CTCAGCCTCCCACAGCAGCCC 0.607 KIAA1530 57654 broad.mit.edu 37 4 1348916 1348916 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:1348916C>T uc003gde.3 + 7 1506 c.1059C>T c.(1057-1059)CGC>CGT p.R353R NM_020894 NP_065945 Q2YD98 K1530_HUMAN hypothetical protein LOC57654 353 0 OV - Ovarian serous cystadenocarcinoma(23;0.0138) GCTTCACCCGCGTCGGGACCC 0.617 TACC3 10460 broad.mit.edu 37 4 1742700 1742700 + Missense_Mutation SNP A A T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:1742700A>T uc003gdo.2 + 13 2318 c.2210A>T c.(2209-2211)GAG>GTG p.E737V TACC3_uc003gdp.2_Missense_Mutation_p.E377V|TACC3_uc010ica.2_Missense_Mutation_p.E158V NM_006342 NP_006333 Q9Y6A5 TACC3_HUMAN transforming, acidic coiled-coil containing 737 Potential. centrosome ovary(1)|central_nervous_system(1) 2 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) GAGGTGATCGAGGGCTACCGC 0.522 ZFYVE28 57732 broad.mit.edu 37 4 2306791 2306791 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:2306791C>T uc003gex.1 - 8 1595 c.1276G>A c.(1276-1278)GCA>ACA p.A426T ZFYVE28_uc011bvk.1_Missense_Mutation_p.A356T|ZFYVE28_uc011bvl.1_Missense_Mutation_p.A396T|ZFYVE28_uc003gew.1_Missense_Mutation_p.A312T NM_020972 NP_066023 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 426 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding skin(2)|ovary(1) 3 GTACTGCCTGCCCACCCAAAT 0.677 TNIP2 79155 broad.mit.edu 37 4 2746454 2746454 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:2746454C>T uc003gfg.2 - 4 963 c.876G>A c.(874-876)GCG>GCA p.A292A TNIP2_uc003gff.2_Silent_p.A185A|TNIP2_uc003gfh.2_Intron NM_024309 NP_077285 Q8NFZ5 TNIP2_HUMAN A20-binding inhibitor of NF-kappaB activation 2 292 Potential. cytosol protein binding central_nervous_system(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CCCGCTCCAACGCAGCATCCC 0.612 NOP14 8602 broad.mit.edu 37 4 2948228 2948228 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:2948228C>T uc003ggj.1 - 11 1618 c.1546G>A c.(1546-1548)GCT>ACT p.A516T C4orf10_uc003gge.1_Intron|C4orf10_uc003ggh.2_Intron|C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Missense_Mutation_p.A262T|NOP14_uc003ggk.3_Missense_Mutation_p.A516T|NOP14_uc003ggl.2_Missense_Mutation_p.A516T NM_003703 NP_003694 P78316 NOP14_HUMAN probable nucleolar complex protein 14 516 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) mitochondrion|Noc4p-Nop14p complex|small-subunit processome snoRNA binding pancreas(1) 1 AATTTGATAGCGTCACTTGCA 0.438 EVC2 132884 broad.mit.edu 37 4 5664926 5664926 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:5664926A>G uc003gij.2 - 9 1107 c.1053T>C c.(1051-1053)GCT>GCC p.A351A EVC2_uc011bwb.1_5'UTR|EVC2_uc003gik.2_Silent_p.A271A NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 351 integral to membrane large_intestine(3)|ovary(2) 5 TCACGCCATCAGCTGAGGTGA 0.468 EVC 2121 broad.mit.edu 37 4 5733277 5733277 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:5733277C>T uc003gil.1 + 4 694 c.510C>T c.(508-510)GAC>GAT p.D170D EVC_uc003gim.1_RNA NM_153717 NP_714928 P57679 EVC_HUMAN Ellis van Creveld syndrome protein 170 muscle organ development integral to membrane ovary(1)|skin(1) 2 Myeloproliferative disorder(84;0.117) GTGAGAAGGACGACTGCAGCT 0.602 CRMP1 1400 broad.mit.edu 37 4 5862758 5862758 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:5862758A>G uc003gip.2 - 4 409 c.308T>C c.(307-309)ATG>ACG p.M103T CRMP1_uc003gin.1_Intron|CRMP1_uc003giq.2_Missense_Mutation_p.M103T|CRMP1_uc003gir.2_Missense_Mutation_p.M98T|CRMP1_uc003gis.2_Missense_Mutation_p.M217T NM_001313 NP_001304 Q14194 DPYL1_HUMAN collapsin response mediator protein 1 isoform 2 103 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding ovary(2) 2 Colorectal(103;0.0721) CTCACTGATCATCGTGGTCCC 0.577 CCDC96 257236 broad.mit.edu 37 4 7043508 7043508 + Silent SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:7043508C>A uc003gjv.2 - 1 1221 c.1158G>T c.(1156-1158)CTG>CTT p.L386L TADA2B_uc003gjw.3_5'Flank|TADA2B_uc010idi.2_5'Flank NM_153376 NP_699207 Q2M329 CCD96_HUMAN coiled-coil domain containing 96 386 Potential. 0 CAAAATGCACCAGGCTCTGCT 0.522 DRD5 1816 broad.mit.edu 37 4 9784659 9784659 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:9784659G>A uc003gmb.3 + 1 1402 c.1006G>A c.(1006-1008)GTC>ATC p.V336I NM_000798 NP_000789 P21918 DRD5_HUMAN dopamine receptor D5 336 Extracellular (Potential). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane skin(1) 1 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) CTTCCCCTGCGTCAGTGAGAC 0.587 SLC2A9 56606 broad.mit.edu 37 4 9987317 9987317 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:9987317G>A uc003gmc.2 - 4 572 c.511C>T c.(511-513)CGC>TGC p.R171C SLC2A9_uc003gmd.2_Missense_Mutation_p.R142C NM_020041 NP_064425 Q9NRM0 GTR9_HUMAN solute carrier family 2, member 9 protein 171 Extracellular (Potential). glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity ovary(3) 3 ATGATGAAGCGTCCCACGATG 0.388 C1QTNF7 114905 broad.mit.edu 37 4 15444178 15444178 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:15444178G>A uc011bxb.1 + 3 852 c.625G>A c.(625-627)GGA>AGA p.G209R C1QTNF7_uc003gno.2_Missense_Mutation_p.G216R|C1QTNF7_uc003gnp.2_Missense_Mutation_p.G209R NM_001135171 NP_001128643 Q9BXJ2 C1QT7_HUMAN C1q and tumor necrosis factor related protein 7 209 C1q. collagen 0 TCTGGCAATCGGACTGGTACA 0.478 LGI2 55203 broad.mit.edu 37 4 25014047 25014047 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:25014047C>T uc003grf.2 - 7 829 c.730G>A c.(730-732)GTG>ATG p.V244M NM_018176 NP_060646 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 244 EAR 1. extracellular region 0 Breast(46;0.173) GCGATGGCCACGTACACATCG 0.468 ZCCHC4 29063 broad.mit.edu 37 4 25334863 25334863 + Nonsense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:25334863C>T uc003grl.3 + 4 424 c.388C>T c.(388-390)CAG>TAG p.Q130* ZCCHC4_uc003grm.1_RNA|ZCCHC4_uc003grn.3_5'UTR NM_024936 NP_079212 Q9H5U6 ZCHC4_HUMAN zinc finger, CCHC domain containing 4 130 methyltransferase activity|nucleic acid binding|zinc ion binding ovary(2) 2 Breast(46;0.0503) AACATGTCAGCAGTTGTTGTT 0.388 SLC34A2 10568 broad.mit.edu 37 4 25665888 25665888 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:25665888C>T uc003grr.2 + 4 396 c.315C>T c.(313-315)CTC>CTT p.L105L SLC34A2_uc003grs.2_Silent_p.L104L|SLC34A2_uc010iev.2_Silent_p.L104L NM_006424 NP_006415 O95436 NPT2B_HUMAN solute carrier family 34 (sodium phosphate), 105 Helical; Name=M1; (Potential). cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity skin(3)|ovary(1)|kidney(1) 5 Breast(46;0.0503) TTTTACTTCTCGGATTTCTCT 0.507 CHRNA9 55584 broad.mit.edu 37 4 40356371 40356371 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:40356371C>T uc003gva.1 + 5 1290 c.1274C>T c.(1273-1275)ACG>ATG p.T425M NM_017581 NP_060051 Q9UGM1 ACHA9_HUMAN cholinergic receptor, nicotinic, alpha 9 425 Cytoplasmic (Potential). elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(3)|skin(3)|central_nervous_system(1) 7 Nicotine(DB00184) AAAGTGCTGACGAGGAATATT 0.498 BEND4 389206 broad.mit.edu 37 4 42119703 42119703 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:42119703C>T uc003gwn.2 - 6 2017 c.1437G>A c.(1435-1437)TCG>TCA p.S479S BEND4_uc003gwm.2_3'UTR NM_207406 NP_997289 Q6ZU67 BEND4_HUMAN BEN domain containing 4 isoform a 479 BEN. 0 TCTGCTCTTCCGAGGGCATCC 0.498 FRYL 285527 broad.mit.edu 37 4 48569288 48569288 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:48569288G>A uc003gyh.1 - 28 3751 c.3146C>T c.(3145-3147)GCG>GTG p.A1049V FRYL_uc003gyk.2_Missense_Mutation_p.A1049V|FRYL_uc003gyi.1_5'Flank NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 1049 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 AATAATATTCGCCACTAAGGC 0.328 LRRC66 339977 broad.mit.edu 37 4 52861190 52861190 + Silent SNP T T G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:52861190T>G uc003gzi.2 - 4 2011 c.1998A>C c.(1996-1998)CCA>CCC p.P666P NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 666 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 GAAAGACTGATGGGCCTGTGT 0.557 GSX2 170825 broad.mit.edu 37 4 54966533 54966533 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:54966533G>A uc010igp.1 + 1 286 c.22G>A c.(22-24)GAC>AAC p.D8N PDGFRA_uc003haa.2_Intron NM_133267 NP_573574 Q9BZM3 GSX2_HUMAN GS homeobox 2 8 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147) LUSC - Lung squamous cell carcinoma(32;0.00216) CTTCTATGTCGACTCGCTCAT 0.647 KIAA1211 57482 broad.mit.edu 37 4 57181853 57181853 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:57181853T>C uc003hbk.2 + 8 2576 c.2185T>C c.(2185-2187)TCC>CCC p.S729P KIAA1211_uc010iha.2_Missense_Mutation_p.S722P|KIAA1211_uc011bzz.1_Missense_Mutation_p.S639P|KIAA1211_uc003hbm.1_Missense_Mutation_p.S615P NM_020722 NP_065773 Q6ZU35 K1211_HUMAN hypothetical protein LOC57482 729 p.S729S(1) ovary(1)|skin(1) 2 Glioma(25;0.08)|all_neural(26;0.101) GCAGAAATTTTCCGATGGTGG 0.572 CSN3 1448 broad.mit.edu 37 4 71114781 71114781 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:71114781C>T uc003hfe.3 + 4 212 c.154C>T c.(154-156)CCA>TCA p.P52S NM_005212 NP_005203 P07498 CASK_HUMAN casein kappa precursor 52 extracellular region protein binding p.P52A(1) ovary(2)|kidney(1)|central_nervous_system(1) 4 GTATTATGTGCCAAATAGCTA 0.333 C4orf35 85438 broad.mit.edu 37 4 71201047 71201047 + Silent SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:71201047C>A uc003hff.2 + 1 377 c.291C>A c.(289-291)ACC>ACA p.T97T NM_033122 NP_149113 Q96KC9 CABS1_HUMAN testis development protein NYD-SP26 97 flagellum calcium ion binding 0 all_hematologic(202;0.196) AAGAAATTACCTCTCTGACTG 0.373 NAAA 27163 broad.mit.edu 37 4 76842177 76842177 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:76842177G>A uc003hjb.2 - 6 830 c.766C>T c.(766-768)CGG>TGG p.R256W NAAA_uc003hja.2_Missense_Mutation_p.R256W|NAAA_uc003hjc.3_Missense_Mutation_p.R256W|NAAA_uc003hjd.3_RNA|NAAA_uc011cbq.1_Missense_Mutation_p.R155W NM_014435 NP_055250 Q02083 NAAA_HUMAN N-acylethanolamine acid amidase isoform 1 256 lipid metabolic process lysosome hydrolase activity skin(1) 1 ACCCCCTCCCGGGGGGACGTG 0.512 ANKRD56 345079 broad.mit.edu 37 4 77817102 77817102 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:77817102G>A uc003hki.2 - 1 1901 c.1901C>T c.(1900-1902)GCG>GTG p.A634V NM_001029870 NP_001025041 A6NEL2 ANR56_HUMAN ankyrin repeat domain 56 634 ANK 1. 0 CCAGTGCAACGCAGTGTACCC 0.522 FRAS1 80144 broad.mit.edu 37 4 79371314 79371314 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:79371314C>T uc003hlb.2 + 45 6724 c.6284C>T c.(6283-6285)GCA>GTA p.A2095V NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2094 CSPG 9.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 GGGTCTGTAGCACGCATCACA 0.453 PRDM8 56978 broad.mit.edu 37 4 81122567 81122567 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:81122567C>T uc010ijo.2 + 7 1182 c.343C>T c.(343-345)CGC>TGC p.R115C PRDM8_uc003hmb.3_Missense_Mutation_p.R115C|PRDM8_uc003hmc.3_Missense_Mutation_p.R115C NM_020226 NP_064611 Q9NQV8 PRDM8_HUMAN PR domain containing 8 115 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 GCTGTTCTACCGCTCTCTCCG 0.498 BMP3 651 broad.mit.edu 37 4 81952623 81952623 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:81952623G>A uc003hmg.3 + 1 505 c.185G>A c.(184-186)CGG>CAG p.R62Q NM_001201 NP_001192 P12645 BMP3_HUMAN bone morphogenetic protein 3 preproprotein 62 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity ovary(4)|central_nervous_system(1) 5 CACATGCTGCGGCTCTATGAC 0.687 SLC10A6 345274 broad.mit.edu 37 4 87754575 87754575 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:87754575A>G uc003hqd.2 - 2 528 c.380T>C c.(379-381)ATC>ACC p.I127T NM_197965 NP_932069 Q3KNW5 SOAT_HUMAN sodium-dependent organic anion transporter 127 Cytoplasmic (Potential). integral to membrane|plasma membrane bile acid:sodium symporter activity 0 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.00099) TGTCATACTGATGCTGAAAGT 0.438 KLHL8 57563 broad.mit.edu 37 4 88091757 88091757 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:88091757C>T uc011cdb.1 - 7 1604 c.1219G>A c.(1219-1221)GCC>ACC p.A407T KLHL8_uc003hql.1_Missense_Mutation_p.A407T|KLHL8_uc003hqm.1_Missense_Mutation_p.A331T|KLHL8_uc003hqn.1_Missense_Mutation_p.A224T|KLHL8_uc010ikj.1_Missense_Mutation_p.A56T NM_020803 NP_065854 Q9P2G9 KLHL8_HUMAN kelch-like 8 407 Kelch 2. 0 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000603) GAAGCCAAGGCAATTCCTCGC 0.358 HERC5 51191 broad.mit.edu 37 4 89388315 89388315 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:89388315G>A uc003hrt.2 + 7 1170 c.1017G>A c.(1015-1017)CCG>CCA p.P339P HERC5_uc011cdm.1_5'Flank NM_016323 NP_057407 Q9UII4 HERC5_HUMAN hect domain and RLD 5 339 RCC1 5. innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity ovary(4)|lung(3)|skin(2) 9 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) AGCTGATGCCGCTTCCAGTGA 0.393 PDHA2 5161 broad.mit.edu 37 4 96761964 96761964 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:96761964G>T uc003htr.3 + 1 726 c.663G>T c.(661-663)GAG>GAT p.E221D NM_005390 NP_005381 P29803 ODPAT_HUMAN pyruvate dehydrogenase E1 alpha 2 precursor 221 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) TCATCTGTGAGAATAACCTAT 0.453 TSPAN5 10098 broad.mit.edu 37 4 99397385 99397385 + Missense_Mutation SNP A A T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:99397385A>T uc003hub.2 - 7 1046 c.696T>A c.(694-696)AAT>AAA p.N232K TSPAN5_uc011cdz.1_Missense_Mutation_p.N161K NM_005723 NP_005714 P62079 TSN5_HUMAN transmembrane 4 superfamily member 9 232 Extracellular (Potential). integral to membrane 0 OV - Ovarian serous cystadenocarcinoma(123;1.89e-07) CGATGGTTAAATTGTCCTGCA 0.458 CASP6 839 broad.mit.edu 37 4 110618908 110618908 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:110618908C>T uc003hzn.1 - 3 178 c.100G>A c.(100-102)GCA>ACA p.A34T CASP6_uc003hzo.1_Intron NM_001226 NP_001217 P55212 CASP6_HUMAN caspase 6 isoform alpha preproprotein 34 cellular component disassembly involved in apoptosis|induction of apoptosis|proteolysis cytosol|nucleoplasm cysteine-type endopeptidase activity|protein binding ovary(1)|breast(1) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000171) TACTTTTCTGCCGGATCAAAC 0.398 RRH 10692 broad.mit.edu 37 4 110757242 110757242 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:110757242T>C uc003hzv.2 + 4 511 c.477T>C c.(475-477)CCT>CCC p.P159P NM_006583 NP_006574 O14718 OPSX_HUMAN peropsin 159 Helical; Name=4; (Potential). phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity ovary(1) 1 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00109) CTTTGATGCCTATCATAGGGT 0.438 AP1AR 55435 broad.mit.edu 37 4 113189356 113189356 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:113189356C>T uc003iaj.3 + 10 1053 c.700C>T c.(700-702)CGG>TGG p.R234W AP1AR_uc003iak.3_Missense_Mutation_p.R201W NM_018569 NP_061039 Q63HQ0 AP1AR_HUMAN adaptor-related protein complex 1 associated 234 protein transport early endosome|Golgi apparatus|late endosome|transport vesicle 0 AGACATTCTACGGGCAGCACT 0.388 C4orf21 55345 broad.mit.edu 37 4 113462250 113462250 + Missense_Mutation SNP G G C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:113462250G>C uc003iau.2 - 25 5984 c.5773C>G c.(5773-5775)CAG>GAG p.Q1925E C4orf21_uc003iav.2_RNA|C4orf21_uc003iat.2_Missense_Mutation_p.Q383E NM_018392 NP_060862 Q6ZU11 YD002_HUMAN prematurely terminated mRNA decay factor-like 747 integral to membrane zinc ion binding 0 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) TCATTTACCTGTTCTAGTCCT 0.363 KIAA1109 84162 broad.mit.edu 37 4 123120560 123120560 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:123120560T>C uc003ieh.2 + 12 1380 c.1335T>C c.(1333-1335)ACT>ACC p.T445T KIAA1109_uc003iei.1_Silent_p.T199T|KIAA1109_uc010ins.1_5'UTR NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 445 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 TGGATGCCACTACCAGCATGC 0.328 FAT4 79633 broad.mit.edu 37 4 126238642 126238642 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:126238642C>T uc003ifj.3 + 1 1076 c.1076C>T c.(1075-1077)CCG>CTG p.P359L NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 359 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CGCTACTTCCCGGCCACCTCG 0.632 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) KLHL2 11275 broad.mit.edu 37 4 166238981 166238981 + Missense_Mutation SNP T T G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:166238981T>G uc003irb.2 + 14 1872 c.1613T>G c.(1612-1614)GTT>GGT p.V538G KLHL2_uc011cjm.1_Missense_Mutation_p.V542G|KLHL2_uc003irc.2_Missense_Mutation_p.V450G|KLHL2_uc010ira.2_Missense_Mutation_p.V191G NM_007246 NP_009177 O95198 KLHL2_HUMAN kelch-like 2, Mayven isoform 1 538 Kelch 5. intracellular protein transport actin cytoskeleton|cytoplasm actin binding|transporter activity 0 all_hematologic(180;0.221) GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927) TTTAAAGGAGTTTGTGCAGTT 0.343 SPOCK3 50859 broad.mit.edu 37 4 167675677 167675677 + Missense_Mutation SNP A A C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:167675677A>C uc003iri.1 - 9 1063 c.922T>G c.(922-924)TGC>GGC p.C308G SPOCK3_uc011cjp.1_Missense_Mutation_p.C265G|SPOCK3_uc011cjq.1_Missense_Mutation_p.C317G|SPOCK3_uc011cjr.1_Missense_Mutation_p.C188G|SPOCK3_uc003irj.1_Missense_Mutation_p.C305G|SPOCK3_uc011cjs.1_Missense_Mutation_p.C257G|SPOCK3_uc011cjt.1_Missense_Mutation_p.C216G|SPOCK3_uc011cju.1_Missense_Mutation_p.C201G|SPOCK3_uc011cjv.1_Missense_Mutation_p.C210G|SPOCK3_uc003irk.3_Missense_Mutation_p.C305G NM_016950 NP_058646 Q9BQ16 TICN3_HUMAN testican 3 isoform 2 308 signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) CTCTGGAAGCAGTAGCACCAC 0.348 DDX60 55601 broad.mit.edu 37 4 169190007 169190007 + Silent SNP G G A rs145361158 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:169190007G>A uc003irp.2 - 20 3076 c.2784C>T c.(2782-2784)ACC>ACT p.T928T NM_017631 NP_060101 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 928 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) ATGCCTACTCGGTGAGATGTT 0.368 PALLD 23022 broad.mit.edu 37 4 169812119 169812119 + Nonsense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:169812119G>T uc011cjx.1 + 11 2222 c.2011G>T c.(2011-2013)GAG>TAG p.E671* CBR4_uc011cjy.1_Intron|PALLD_uc003iru.2_Nonsense_Mutation_p.E671*|PALLD_uc003irv.2_Nonsense_Mutation_p.E289*|PALLD_uc003irw.2_Nonsense_Mutation_p.E173* NM_016081 NP_057165 Q8WX93 PALLD_HUMAN palladin isoform 2 895 cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding ovary(1) 1 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) AGCCTCCGATGAGGAAATTCA 0.443 Pancreatic_Cancer_Familial_Clustering_of NEK1 4750 broad.mit.edu 37 4 170345785 170345785 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:170345785C>T uc003isb.1 - 29 3549 c.3057G>A c.(3055-3057)TCG>TCA p.S1019S NEK1_uc003isc.1_Silent_p.S975S|NEK1_uc003isd.1_Silent_p.S1047S|NEK1_uc003ise.1_Silent_p.S1003S|NEK1_uc003isf.1_Silent_p.S950S NM_012224 NP_036356 Q96PY6 NEK1_HUMAN NIMA-related kinase 1 1019 cell division|cilium assembly|mitosis nucleus|pericentriolar material ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(3)|ovary(2)|large_intestine(1) 6 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14) GTGGTAAATGCGAGTGAGATC 0.393 FBXO8 26269 broad.mit.edu 37 4 175183955 175183955 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:175183955C>T uc003itp.2 - 2 1139 c.289G>A c.(289-291)GTT>ATT p.V97I FBXO8_uc003itq.2_Intron NM_012180 NP_036312 Q9NRD0 FBX8_HUMAN F-box only protein 8 97 F-box. regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process cytoplasm|ubiquitin ligase complex ARF guanyl-nucleotide exchange factor activity breast(2) 2 Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107) all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1) TCCTGCCAAACACATGAAGCC 0.413 ODZ3 55714 broad.mit.edu 37 4 183600990 183600990 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:183600990A>G uc003ivd.1 + 7 1535 c.1498A>G c.(1498-1500)AAA>GAA p.K500E ODZ3_uc003ive.1_5'Flank NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 500 Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) TAATGATGGGAAAAATGCAGA 0.448 IRF2 3660 broad.mit.edu 37 4 185339687 185339687 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:185339687T>C uc003iwf.3 - 4 563 c.363A>G c.(361-363)AAA>AAG p.K121K NM_002199 NP_002190 P14316 IRF2_HUMAN interferon regulatory factor 2 121 blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway focal adhesion|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592) all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419) TGCCTTTACCTTTCTTAGAAG 0.398 MTNR1A 4543 broad.mit.edu 37 4 187455100 187455100 + Missense_Mutation SNP C C T rs148793802 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:187455100C>T uc003izd.1 - 2 814 c.796G>A c.(796-798)GCC>ACC p.A266T NM_005958 NP_005949 P48039 MTR1A_HUMAN melatonin receptor 1A 266 Extracellular (Potential). circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity ovary(1)|skin(1)|breast(1)|central_nervous_system(1)|pancreas(1) 5 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) ACCATGCTGGCGGGGTCAGAG 0.507 SLC9A3 6550 broad.mit.edu 37 5 488455 488455 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:488455C>T uc003jbe.2 - 3 763 c.651G>A c.(649-651)TCG>TCA p.S217S SLC9A3_uc011clx.1_Silent_p.S217S NM_004174 NP_004165 P48764 SL9A3_HUMAN solute carrier family 9 (sodium/hydrogen 217 Helical; Name=G/M5B; (Potential). cell surface|integral to membrane sodium:hydrogen antiporter activity 0 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) CGTTCAGCAGCGACTCCCCGA 0.667 LPCAT1 79888 broad.mit.edu 37 5 1466903 1466903 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:1466903G>A uc003jcm.2 - 13 1498 c.1381C>T c.(1381-1383)CGA>TGA p.R461* LPCAT1_uc003jcl.2_Nonsense_Mutation_p.R35* NM_024830 NP_079106 Q8NF37 PCAT1_HUMAN lysophosphatidylcholine acyltransferase 1 461 Lumenal (Potential).|EF-hand 2. phospholipid biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534) GBM - Glioblastoma multiforme(108;0.156) TCAATGGCTCGGAATAGGTCG 0.647 IRX4 50805 broad.mit.edu 37 5 1878859 1878859 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:1878859C>T uc003jcz.2 - 5 903 c.784G>A c.(784-786)GAC>AAC p.D262N IRX4_uc011cmf.1_Missense_Mutation_p.D123N NM_016358 NP_057442 P78413 IRX4_HUMAN iroquois homeobox 4 262 heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GBM - Glioblastoma multiforme(108;0.242) GGGTCGAAGTCGTCCAAGTCA 0.672 C5orf38 153571 broad.mit.edu 37 5 2752844 2752844 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:2752844G>A uc003jdc.2 + 2 426 c.309G>A c.(307-309)GCG>GCA p.A103A C5orf38_uc011cmg.1_Silent_p.A103A|C5orf38_uc011cmh.1_RNA|C5orf38_uc011cmi.1_RNA|C5orf38_uc011cmj.1_Intron NM_178569 NP_848664 Q86SI9 CEI_HUMAN hypothetical protein LOC153571 precursor 103 extracellular region 0 GBM - Glioblastoma multiforme(108;0.205) TCAGGTTGGCGCCGCCGGTGC 0.642 ADCY2 108 broad.mit.edu 37 5 7709334 7709334 + Missense_Mutation SNP G G A rs141886153 by1000genomes TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:7709334G>A uc003jdz.1 + 10 1479 c.1412G>A c.(1411-1413)CGG>CAG p.R471Q ADCY2_uc011cmo.1_Missense_Mutation_p.R291Q NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 471 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 GGAGAACGACGGAGCCCCCAG 0.587 ANKH 56172 broad.mit.edu 37 5 14769138 14769138 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:14769138C>T uc003jfm.3 - 2 590 c.259G>A c.(259-261)GTC>ATC p.V87I NM_054027 NP_473368 Q9HCJ1 ANKH_HUMAN progressive ankylosis protein 87 Helical; (Potential). locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity upper_aerodigestive_tract(1) 1 ATACACAGGACGGCTTTGGTC 0.547 MTMR12 54545 broad.mit.edu 37 5 32230244 32230244 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:32230244T>C uc003jhq.2 - 16 2054 c.1884A>G c.(1882-1884)TTA>TTG p.L628L MTMR12_uc010iuk.2_Silent_p.L574L|MTMR12_uc010iul.2_Silent_p.L518L NM_001040446 NP_001035536 Q9C0I1 MTMRC_HUMAN myotubularin related protein 12 628 Myotubularin phosphatase. cytoplasm phosphatase activity ovary(1) 1 CGATATGCGGTAACAACAAAC 0.488 ZFR 51663 broad.mit.edu 37 5 32404048 32404048 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:32404048G>A uc003jhr.1 - 7 1267 c.1187C>T c.(1186-1188)GCG>GTG p.A396V NM_016107 NP_057191 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 396 multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding 0 STAD - Stomach adenocarcinoma(35;0.19) GGCAGCATACGCATCTGCTCC 0.448 RAI14 26064 broad.mit.edu 37 5 34824014 34824014 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:34824014C>T uc003jir.2 + 15 2263 c.2067C>T c.(2065-2067)AAC>AAT p.N689N RAI14_uc010iur.2_Silent_p.N660N|RAI14_uc011coj.1_Silent_p.N689N|RAI14_uc003jis.2_Silent_p.N692N|RAI14_uc003jit.2_Silent_p.N689N|RAI14_uc011cok.1_Silent_p.N681N NM_015577 NP_056392 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 isoform a 689 Potential. cell cortex|cytoskeleton protein binding ovary(1) 1 all_lung(31;0.000191) AATTGACAAACGTGTCCAGGG 0.438 HEATR7B2 133558 broad.mit.edu 37 5 41009422 41009422 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:41009422G>A uc003jmj.3 - 32 3870 c.3380C>T c.(3379-3381)ACT>ATT p.T1127I HEATR7B2_uc003jmi.3_Missense_Mutation_p.T682I NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 1127 HEAT 12. binding ovary(6)|central_nervous_system(2) 8 TTCTAACTCAGTCTCCAGTTT 0.498 C6 729 broad.mit.edu 37 5 41203323 41203323 + Missense_Mutation SNP G G A rs150931891 byFrequency TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:41203323G>A uc003jmk.2 - 2 220 c.10C>T c.(10-12)CGC>TGC p.R4C C6_uc003jml.1_Missense_Mutation_p.R4C NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 4 complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) AAGACAGAGCGTCTGGCCATG 0.463 MGC42105 167359 broad.mit.edu 37 5 43280635 43280635 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:43280635G>A uc003jno.2 + 4 1996 c.1115G>A c.(1114-1116)CGA>CAA p.R372Q NM_153361 NP_699192 Q8IY84 NIM1_HUMAN serine/threonine-protein kinase NIM1 372 ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.R372*(2) lung(4)|ovary(2)|stomach(1)|large_intestine(1)|breast(1) 9 GAGCATATTCGAAATAACCAA 0.423 PELO 53918 broad.mit.edu 37 5 52096812 52096812 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:52096812G>A uc003jos.2 + 2 1569 c.584G>A c.(583-585)CGC>CAC p.R195H ITGA1_uc003jov.2_Intron|ITGA1_uc003jou.2_Intron|PELO_uc003jot.1_Intron NM_015946 NP_057030 Q9BRX2 PELO_HUMAN pelota homolog 195 cell cycle|cell division|translation cytoplasm|nucleus endonuclease activity|metal ion binding|protein binding 0 Lung NSC(810;4.94e-05)|Breast(144;0.0848) GCTATCCAGCGCCACATACAC 0.522 HTR1A 3350 broad.mit.edu 37 5 63256991 63256991 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:63256991C>T uc011cqt.1 - 1 556 c.556G>A c.(556-558)GCA>ACA p.A186T NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 186 Extracellular (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) ATGGTGCATGCGTCGGGGTCC 0.572 SFRS12 140890 broad.mit.edu 37 5 65473381 65473381 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:65473381C>T uc003juo.2 + 12 1932 c.1272C>T c.(1270-1272)GAC>GAT p.D424D SFRS12_uc003jun.2_Silent_p.D540D|SFRS12_uc010iwy.2_Silent_p.D423D NM_139168 NP_631907 Q8WXA9 SREK1_HUMAN splicing factor, arginine/serine-rich 12 isoform 424 Arg/Glu/Lys/Ser-rich. mRNA processing|RNA splicing spliceosomal complex nucleic acid binding|nucleotide binding|protein binding 0 Lung NSC(167;9.34e-06)|Prostate(74;0.00187)|Ovarian(174;0.0545)|Breast(144;0.0928)|Colorectal(97;0.234) Lung(70;0.00449) AAGAAAGGGACCACATCAGTG 0.333 ZNF366 167465 broad.mit.edu 37 5 71756348 71756348 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:71756348G>A uc003kce.1 - 2 1162 c.976C>T c.(976-978)CGC>TGC p.R326C NM_152625 NP_689838 Q8N895 ZN366_HUMAN zinc finger protein 366 326 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) ATCATGTGGCGCTTCAGGTGG 0.657 FCHO2 115548 broad.mit.edu 37 5 72377779 72377779 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:72377779C>T uc003kcl.2 + 23 2266 c.2150C>T c.(2149-2151)ACG>ATG p.T717M FCHO2_uc011csl.1_Missense_Mutation_p.T684M|FCHO2_uc010izb.2_Missense_Mutation_p.T145M|FCHO2_uc011csn.1_Missense_Mutation_p.T145M NM_138782 NP_620137 Q0JRZ9 FCHO2_HUMAN FCH domain only 2 isoform a 717 ovary(1) 1 Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;4.6e-53) GGAGGAGTAACGAACATGCAG 0.423 UTP15 84135 broad.mit.edu 37 5 72868406 72868406 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:72868406C>T uc003kcw.1 + 7 989 c.766C>T c.(766-768)CTA>TTA p.L256L UTP15_uc011cso.1_Silent_p.L237L|UTP15_uc011csp.1_Silent_p.L66L|UTP15_uc010ize.1_Silent_p.L256L NM_032175 NP_115551 Q8TED0 UTP15_HUMAN UTP15, U3 small nucleolar ribonucleoprotein, 256 WD 6. rRNA processing cytoplasm|nucleolus 0 Lung NSC(167;0.00405)|Ovarian(174;0.0129) OV - Ovarian serous cystadenocarcinoma(47;7.76e-55) ATGTTTATGTCTAAGCAGCTC 0.353 HOMER1 9456 broad.mit.edu 37 5 78697766 78697766 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:78697766G>A uc003kfy.2 - 6 1743 c.640C>T c.(640-642)CAA>TAA p.Q214* HOMER1_uc010jab.2_Intron|HOMER1_uc010jac.2_Intron|HOMER1_uc010jad.2_Nonsense_Mutation_p.Q40* NM_004272 NP_004263 Q86YM7 HOME1_HUMAN homer 1 214 Potential. activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane 0 Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36) GCAGCAAGTTGCTGTTTCCAT 0.478 ACOT12 134526 broad.mit.edu 37 5 80667576 80667576 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:80667576C>T uc003khl.3 - 3 306 c.251G>A c.(250-252)AGC>AAC p.S84N RNU5E_uc011cto.1_Intron|ACOT12_uc003khm.2_Missense_Mutation_p.S84N NM_130767 NP_570123 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 84 Coenzyme A binding.|Acyl coenzyme A hydrolase 1. acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity ovary(1)|kidney(1) 2 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) TACCTCCATGCTTGTGCTGAA 0.398 GPR98 84059 broad.mit.edu 37 5 89923028 89923028 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:89923028G>A uc003kju.2 + 7 769 c.673G>A c.(673-675)GTA>ATA p.V225I GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 225 Calx-beta 2.|Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CCTTTAACAGGTACCAGAAAA 0.318 GPR98 84059 broad.mit.edu 37 5 90015894 90015894 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:90015894G>A uc003kju.2 + 44 9573 c.9477G>A c.(9475-9477)ACG>ACA p.T3159T GPR98_uc003kjt.2_Silent_p.T865T|GPR98_uc003kjv.2_Silent_p.T759T NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 3159 Extracellular (Potential).|Calx-beta 22. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TATTAGACACGGAACCAGAAA 0.363 NR2F1 7025 broad.mit.edu 37 5 92923762 92923762 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:92923762G>A uc003kkj.2 + 2 2290 c.603G>A c.(601-603)TCG>TCA p.S201S NM_005654 NP_005645 P10589 COT1_HUMAN nuclear receptor subfamily 2, group F, member 1 201 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding urinary_tract(1)|ovary(1)|lung(1) 3 all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18) ACCCCACGTCGCGCTACGGCA 0.667 AQPEP 206338 broad.mit.edu 37 5 115299005 115299005 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:115299005C>T uc003kro.2 + 1 855 c.691C>T c.(691-693)CGC>TGC p.R231C AQPEP_uc003krp.2_RNA|uc003krn.1_5'Flank NM_173800 NP_776161 Q6Q4G3 AMPQ_HUMAN laeverin 231 Lumenal (Potential). proteolysis integral to membrane metallopeptidase activity|zinc ion binding 0 CCAGGGCGAGCGCAGGTAAGG 0.672 SNCAIP 9627 broad.mit.edu 37 5 121776408 121776408 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:121776408G>A uc003ksw.1 + 7 1587 c.1381G>A c.(1381-1383)GTT>ATT p.V461I SNCAIP_uc011cwl.1_Missense_Mutation_p.V19I|SNCAIP_uc010jct.2_Missense_Mutation_p.V461I|SNCAIP_uc003ksx.1_Missense_Mutation_p.V508I|SNCAIP_uc003ksy.1_Missense_Mutation_p.V95I|SNCAIP_uc003ksz.1_Missense_Mutation_p.V95I|SNCAIP_uc010jcu.2_Missense_Mutation_p.V57I|SNCAIP_uc011cwm.1_Missense_Mutation_p.V95I|SNCAIP_uc003kta.1_Missense_Mutation_p.V93I|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Missense_Mutation_p.V155I|SNCAIP_uc010jcx.1_Missense_Mutation_p.V401I|uc003ktb.1_Intron NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN synuclein alpha interacting protein 461 ANK 4. cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding ovary(1)|pancreas(1) 2 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) CAACAGTGCCGTTCACGTAGC 0.428 ZNF608 57507 broad.mit.edu 37 5 123984642 123984642 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:123984642G>A uc003ktq.1 - 4 1558 c.1435C>T c.(1435-1437)CGA>TGA p.R479* ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Nonsense_Mutation_p.R479*|ZNF608_uc003ktt.1_Nonsense_Mutation_p.R479* NM_020747 NP_065798 Q9ULD9 ZN608_HUMAN zinc finger protein 608 479 intracellular zinc ion binding skin(3)|ovary(2)|lung(1) 6 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) GGTGTCCTTCGTCCGCTGGCA 0.577 PRRC1 133619 broad.mit.edu 37 5 126874760 126874760 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:126874760G>A uc003kuk.2 + 7 1130 c.950G>A c.(949-951)CGT>CAT p.R317H PRRC1_uc003kuj.3_Missense_Mutation_p.R317H NM_130809 NP_570721 Q96M27 PRRC1_HUMAN proline-rich coiled-coil 1 317 Golgi apparatus 0 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113) GATAGCTTGCGTCGAACTGGG 0.373 P4HA2 8974 broad.mit.edu 37 5 131543466 131543466 + Missense_Mutation SNP C C T rs148040234 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:131543466C>T uc003kwh.2 - 8 1579 c.1015G>A c.(1015-1017)GTC>ATC p.V339I P4HA2_uc003kwg.2_Missense_Mutation_p.V339I|P4HA2_uc003kwi.2_Missense_Mutation_p.V339I|P4HA2_uc003kwk.2_Missense_Mutation_p.V339I|P4HA2_uc003kwl.2_Missense_Mutation_p.V339I|P4HA2_uc003kwj.2_Missense_Mutation_p.V339I NM_004199 NP_004190 O15460 P4HA2_HUMAN prolyl 4-hydroxylase, alpha II subunit isoform 1 339 endoplasmic reticulum lumen electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding 0 all_cancers(142;0.103)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Proline(DB00172)|Succinic acid(DB00139) TAGTACCTGACGATGTGCGGG 0.527 PDLIM4 8572 broad.mit.edu 37 5 131606656 131606656 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:131606656C>T uc003kwn.2 + 4 453 c.376C>T c.(376-378)CCA>TCA p.P126S uc003kwm.3_Intron|PDLIM4_uc003kwp.2_Missense_Mutation_p.P126S|PDLIM4_uc003kwo.2_Missense_Mutation_p.P126S NM_003687 NP_003678 P50479 PDLI4_HUMAN PDZ and LIM domain 4 isoform 1 126 protein binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CGGGACTGGGCCAGAAGATGG 0.627 RAD50 10111 broad.mit.edu 37 5 131953826 131953826 + Nonsense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:131953826C>T uc003kxi.2 + 21 3616 c.3229C>T c.(3229-3231)CGA>TGA p.R1077* RAD50_uc003kxh.2_Nonsense_Mutation_p.R938* NM_005732 NP_005723 Q92878 RAD50_HUMAN RAD50 homolog isoform 1 1077 Potential. DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding lung(2)|ovary(1)|skin(1) 4 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GGCATTAGGGCGACAGAAAGG 0.318 Homologous_recombination TRPC7 57113 broad.mit.edu 37 5 135692750 135692750 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:135692750G>A uc003lbn.1 - 1 326 c.323C>T c.(322-324)GCG>GTG p.A108V TRPC7_uc010jef.1_Missense_Mutation_p.A100V|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.A100V|TRPC7_uc010jei.1_Missense_Mutation_p.A100V|TRPC7_uc010jej.1_5'UTR NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, 109 Cytoplasmic (Potential).|ANK 3. axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CAGCAGCAGCGCGTCCCCCAC 0.667 FAM13B 51306 broad.mit.edu 37 5 137278577 137278577 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:137278577G>A uc003lbz.2 - 21 3043 c.2509C>T c.(2509-2511)CGA>TGA p.R837* FAM13B_uc003lcb.2_Nonsense_Mutation_p.R713*|FAM13B_uc003lca.2_Nonsense_Mutation_p.R809* NM_016603 NP_057687 Q9NYF5 FA13B_HUMAN hypothetical protein LOC51306 isoform 1 837 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 GAAGCTGCTCGAGAACTTGAC 0.328 FAM13B 51306 broad.mit.edu 37 5 137289904 137289904 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:137289904G>A uc003lbz.2 - 14 2137 c.1603C>T c.(1603-1605)CAT>TAT p.H535Y FAM13B_uc003lcb.2_Missense_Mutation_p.H439Y|FAM13B_uc003lca.2_Missense_Mutation_p.H535Y NM_016603 NP_057687 Q9NYF5 FA13B_HUMAN hypothetical protein LOC51306 isoform 1 535 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 TCTGGATCATGTAGGAAACGC 0.403 WNT8A 7478 broad.mit.edu 37 5 137420203 137420203 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:137420203C>T uc003lcd.1 + 3 124 c.119C>T c.(118-120)ACG>ATG p.T40M BRD8_uc003lcc.1_Intron|WNT8A_uc011cyj.1_Missense_Mutation_p.T58M|WNT8A_uc011cyk.1_Missense_Mutation_p.T58M NM_058244 NP_490645 Q9H1J5 WNT8A_HUMAN wingless-type MMTV integration site family, 40 brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity ovary(1)|lung(1)|breast(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) CTGACCTACACGACTAGTGTG 0.577 NRG2 9542 broad.mit.edu 37 5 139251390 139251390 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:139251390C>T uc003lex.1 - 4 1253 c.1028G>A c.(1027-1029)CGG>CAG p.R343Q NRG2_uc003lev.1_Missense_Mutation_p.R343Q|NRG2_uc003lew.1_Missense_Mutation_p.R343Q|NRG2_uc003ley.1_Missense_Mutation_p.R343Q NM_004883 NP_004874 O14511 NRG2_HUMAN neuregulin 2 isoform 1 343 EGF-like.|Extracellular (Potential). embryo development extracellular region|integral to membrane|plasma membrane growth factor activity pancreas(2)|breast(2)|ovary(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTGCACTTCCGGGCGTGCCC 0.567 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139905920 139905920 + Missense_Mutation SNP G G C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:139905920G>C uc003lfs.1 + 26 4956 c.4832G>C c.(4831-4833)AGC>ACC p.S1611T ANKHD1_uc003lfr.2_Missense_Mutation_p.S1611T|ANKHD1_uc003lfu.1_Missense_Mutation_p.S1091T|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.S350T|ANKHD1_uc003lfw.2_Missense_Mutation_p.S249T|ANKHD1_uc010jfl.2_Missense_Mutation_p.S46T|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 1611 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGGTAAAAGCCAAGAGTTA 0.428 PCDHA1 56147 broad.mit.edu 37 5 140166534 140166534 + Missense_Mutation SNP C C T rs149577981 byFrequency TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:140166534C>T uc003lhb.2 + 1 659 c.659C>T c.(658-660)CCG>CTG p.P220L PCDHA1_uc003lha.2_Missense_Mutation_p.P220L|PCDHA1_uc003lgz.2_Missense_Mutation_p.P220L NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 220 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGGGCAAACCGGAGCTGCAA 0.458 PCDHA1 56147 broad.mit.edu 37 5 140167731 140167731 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:140167731G>A uc003lhb.2 + 1 1856 c.1856G>A c.(1855-1857)CGC>CAC p.R619H PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.R619H NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 619 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCGGCGCGCGCATCCCGTTC 0.667 PCDHA3 56145 broad.mit.edu 37 5 140182842 140182842 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:140182842C>T uc003lhf.2 + 1 2060 c.2060C>T c.(2059-2061)ACG>ATG p.T687M PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.T687M NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 687 Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGGCGCCACGGGCCCGGAA 0.632 PCDHA5 56143 broad.mit.edu 37 5 140202765 140202765 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:140202765C>A uc003lhl.2 + 1 1405 c.1405C>A c.(1405-1407)CCA>ACA p.P469T PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.P469T|PCDHA5_uc003lhj.1_Missense_Mutation_p.P469T NM_018908 NP_061731 Q9Y5H7 PCDA5_HUMAN protocadherin alpha 5 isoform 1 precursor 469 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(1)|breast(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAACAACCCGCCAGGCTGCCA 0.677 PCDHA6 56142 broad.mit.edu 37 5 140209889 140209889 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:140209889C>T uc003lho.2 + 1 2240 c.2213C>T c.(2212-2214)ACG>ATG p.T738M PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Missense_Mutation_p.T738M NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 738 Cytoplasmic (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACAAGCCCACGCTGGTGTGC 0.692 PCDHA7 56141 broad.mit.edu 37 5 140215576 140215576 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:140215576C>T uc003lhq.2 + 1 1608 c.1608C>T c.(1606-1608)AGC>AGT p.S536S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.S536S NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 536 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCAGGTGAGCGCGCGCGATG 0.682 PCDHA13 56136 broad.mit.edu 37 5 140263515 140263515 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:140263515C>T uc003lif.2 + 1 1662 c.1662C>T c.(1660-1662)TTC>TTT p.F554F PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.F554F|PCDHA13_uc003lid.2_Silent_p.F554F NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 554 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCAGGTGTTCGTGCTGGACG 0.692 PCDHA13 56136 broad.mit.edu 37 5 140264043 140264043 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:140264043C>T uc003lif.2 + 1 2190 c.2190C>T c.(2188-2190)GGC>GGT p.G730G PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.G730G|PCDHA13_uc003lid.2_Silent_p.G730G NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 730 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCACCGAGGGCGCGTGCGCGC 0.662 PCDHAC1 56135 broad.mit.edu 37 5 140306840 140306840 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:140306840A>G uc003lih.2 + 1 539 c.363A>G c.(361-363)TCA>TCG p.S121S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Silent_p.S121S NM_018898 NP_061721 Q9H158 PCDC1_HUMAN protocadherin alpha subfamily C, 1 isoform 1 121 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGACAACTCACCTCTCTTTC 0.607 PCDHB7 56129 broad.mit.edu 37 5 140553146 140553146 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:140553146C>T uc003lit.2 + 1 904 c.730C>T c.(730-732)CGG>TGG p.R244W NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 244 Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGATTTTGTGCGGTCGCTCTA 0.542 PCDHB7 56129 broad.mit.edu 37 5 140554034 140554034 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:140554034G>A uc003lit.2 + 1 1792 c.1618G>A c.(1618-1620)GCG>ACG p.A540T NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 540 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGGCTCCCCCGCGCTGAGCAG 0.697 PCDHB16 57717 broad.mit.edu 37 5 140564007 140564007 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:140564007C>T uc003liv.2 + 1 3028 c.1873C>T c.(1873-1875)CGC>TGC p.R625C PCDHB9_uc003liw.1_5'Flank NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN protocadherin beta 16 precursor 625 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGGCGAGGTGCGCACCGCCAG 0.697 PCDHB9 56127 broad.mit.edu 37 5 140568534 140568534 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:140568534G>A uc003liw.1 + 3 1643 c.1643G>A c.(1642-1644)CGC>CAC p.R548H NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN protocadherin beta 9 precursor 548 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCGCTGGTGCGCGTACTGGTG 0.711 PCDHGA2 56113 broad.mit.edu 37 5 140719254 140719254 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:140719254C>T uc003ljk.1 + 1 901 c.716C>T c.(715-717)GCG>GTG p.A239V PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.A239V NM_018915 NP_061738 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 isoform 1 239 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACGACAATGCGCCTGTTTTT 0.592 PCDHGB4 8641 broad.mit.edu 37 5 140768432 140768432 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:140768432G>A uc003lkc.1 + 1 981 c.981G>A c.(979-981)GCG>GCA p.A327A PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Silent_p.A327A NM_003736 NP_003727 Q9UN71 PCDGG_HUMAN protocadherin gamma subfamily B, 4 isoform 1 327 Cadherin 3.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAATGATTGCGCAATGCACAG 0.428 ARHGAP26 23092 broad.mit.edu 37 5 142437258 142437258 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:142437258G>A uc011dbj.1 + 17 1519 c.1484G>A c.(1483-1485)CGG>CAG p.R495Q ARHGAP26_uc003lmt.2_Missense_Mutation_p.R495Q|ARHGAP26_uc003lmw.2_Missense_Mutation_p.R495Q NM_015071 NP_055886 Q9UNA1 RHG26_HUMAN GTPase regulator associated with the focal 495 Rho-GAP. actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding ovary(1) 1 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTTGTTCATCGGCTCCCAGAG 0.453 ARHGAP26 23092 broad.mit.edu 37 5 142513670 142513670 + Nonsense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:142513670C>T uc011dbj.1 + 19 1872 c.1837C>T c.(1837-1839)CAG>TAG p.Q613* ARHGAP26_uc003lmt.2_Nonsense_Mutation_p.Q613*|ARHGAP26_uc003lmw.2_Nonsense_Mutation_p.Q613* NM_015071 NP_055886 Q9UNA1 RHG26_HUMAN GTPase regulator associated with the focal 613 Ser-rich. actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding ovary(1) 1 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AACAGAGAAACGTGAGTCTTT 0.582 SH3RF2 153769 broad.mit.edu 37 5 145393517 145393517 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:145393517C>T uc003lnt.2 + 5 1190 c.952C>T c.(952-954)CGC>TGC p.R318C SH3RF2_uc011dbl.1_Missense_Mutation_p.R318C NM_152550 NP_689763 Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 318 ligase activity|protein phosphatase 1 binding|zinc ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCCTTCAGGGCGCCATATGGT 0.577 DPYSL3 1809 broad.mit.edu 37 5 146778698 146778698 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:146778698C>T uc003lon.1 - 11 1338 c.1228G>A c.(1228-1230)GTC>ATC p.V410I DPYSL3_uc003loo.2_Missense_Mutation_p.V524I NM_001387 NP_001378 Q14195 DPYL3_HUMAN dihydropyrimidinase-like 3 410 axon guidance|pyrimidine base catabolic process|signal transduction cytosol|growth cone dihydropyrimidinase activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCCAGATGACGAGGTCGCTG 0.527 ABLIM3 22885 broad.mit.edu 37 5 148577904 148577904 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:148577904G>A uc003lpy.2 + 4 525 c.274G>A c.(274-276)GAA>AAA p.E92K ABLIM3_uc003lpz.1_Missense_Mutation_p.E92K|ABLIM3_uc003lqa.1_Silent_p.A73A|ABLIM3_uc003lqb.2_Missense_Mutation_p.E92K|ABLIM3_uc003lqc.1_Missense_Mutation_p.E92K|ABLIM3_uc003lqd.1_Missense_Mutation_p.E92K|ABLIM3_uc003lqf.2_Missense_Mutation_p.E92K|ABLIM3_uc003lqe.1_Missense_Mutation_p.E92K NM_014945 NP_055760 O94929 ABLM3_HUMAN actin binding LIM protein family, member 3 92 LIM zinc-binding 2. axon guidance|cytoskeleton organization cytoplasm actin binding|zinc ion binding ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATCACAGGCGAAGTCATCTC 0.597 PDE6A 5145 broad.mit.edu 37 5 149263008 149263008 + Missense_Mutation SNP G G A rs142092713 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:149263008G>A uc003lrg.3 - 17 2239 c.2119C>T c.(2119-2121)CGG>TGG p.R707W NM_000440 NP_000431 P16499 PDE6A_HUMAN phosphodiesterase 6A 707 cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) ATTTCCTTCCGTGTCTGCTCC 0.473 FAT2 2196 broad.mit.edu 37 5 150948236 150948236 + Missense_Mutation SNP T T G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:150948236T>G uc003lue.3 - 1 270 c.257A>C c.(256-258)GAG>GCG p.E86A GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.E86A NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 86 Extracellular (Potential).|Cadherin 1. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CACCACATACTCCTCAGTTTT 0.507 ADRA1B 147 broad.mit.edu 37 5 159399008 159399008 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:159399008G>A uc003lxt.1 + 2 1245 c.1072G>A c.(1072-1074)GCT>ACT p.A358T NM_000679 NP_000670 P35368 ADA1B_HUMAN alpha-1B-adrenergic receptor 358 Cytoplasmic (By similarity). cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade integral to plasma membrane alpha1-adrenergic receptor activity lung(1) 1 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656) GTTCAAGCGCGCTTTCGTGCG 0.502 DOCK2 1794 broad.mit.edu 37 5 169129410 169129410 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:169129410G>A uc003maf.2 + 14 1442 c.1362G>A c.(1360-1362)GCG>GCA p.A454A DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_5'Flank|DOCK2_uc010jjl.1_Silent_p.A5A NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 454 DHR-1. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GTGTGTGCGCGGAGGATGGCA 0.512 OREG0017017 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) GABRP 2568 broad.mit.edu 37 5 170236617 170236617 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:170236617G>A uc003mau.2 + 9 1076 c.878G>A c.(877-879)CGC>CAC p.R293H GABRP_uc011dev.1_Intron NM_014211 NP_055026 O00591 GBRP_HUMAN gamma-aminobutyric acid (GABA) A receptor, pi 293 cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(1) 1 Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) ATCGGGTCCCGCACTTCTCTT 0.502 OREG0017032 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) STK10 6793 broad.mit.edu 37 5 171614943 171614943 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:171614943A>G uc003mbo.1 - 1 404 c.104T>C c.(103-105)GTG>GCG p.V35A NM_005990 NP_005981 O94804 STK10_HUMAN serine/threonine kinase 10 35 ATP binding|protein serine/threonine kinase activity ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1) 8 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GATCTCCCACACCTCGTTGGG 0.652 C5orf41 153222 broad.mit.edu 37 5 172513563 172513563 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:172513563G>A uc003mch.2 + 3 373 c.69G>A c.(67-69)TCG>TCA p.S23S C5orf41_uc003mcg.2_Silent_p.S23S|C5orf41_uc003mcf.2_Silent_p.S23S|C5orf41_uc011dfd.1_Silent_p.S23S NM_153607 NP_705835 Q8IUR6 CE041_HUMAN luman-recruiting factor 23 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) ACACCTTTTCGGAACAAACTC 0.413 HMP19 51617 broad.mit.edu 37 5 173491266 173491266 + Missense_Mutation SNP C C T rs142224266 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:173491266C>T uc003mcx.2 + 3 306 c.161C>T c.(160-162)CCG>CTG p.P54L NM_015980 NP_057064 Q9Y328 NSG2_HUMAN HMP19 protein 54 Cytoplasmic (Potential). dopamine receptor signaling pathway cytoplasmic vesicle membrane|Golgi cisterna membrane|integral to membrane|multivesicular body membrane dopamine receptor binding central_nervous_system(1) 1 Renal(175;0.000159)|Lung NSC(126;0.00925)|all_lung(126;0.0148) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GAATATCAGCCGGAACAGAAG 0.423 HK3 3101 broad.mit.edu 37 5 176310832 176310832 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:176310832C>T uc003mfa.2 - 15 2084 c.1992G>A c.(1990-1992)ACG>ACA p.T664T HK3_uc003mez.2_Silent_p.T220T NM_002115 NP_002106 P52790 HXK3_HUMAN hexokinase 3 664 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1) 7 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGGTCCCCACCGTGTCATTGA 0.582 RUFY1 80230 broad.mit.edu 37 5 179021923 179021923 + Missense_Mutation SNP A A T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:179021923A>T uc003mka.1 + 12 1470 c.1470A>T c.(1468-1470)AAA>AAT p.K490N RUFY1_uc003mkb.1_Missense_Mutation_p.K382N|RUFY1_uc003mkc.1_Missense_Mutation_p.K382N|RUFY1_uc003mkd.1_Missense_Mutation_p.K92N NM_025158 NP_079434 Q96T51 RUFY1_HUMAN RUN and FYVE domain-containing 1 isoform a 490 Potential. endocytosis|protein transport early endosome membrane lipid binding|zinc ion binding ovary(4)|breast(1) 5 all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195) all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTGAAGGAAAAACCAACCAAG 0.473 HNSCC(44;0.11) DUSP22 56940 broad.mit.edu 37 6 348155 348155 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:348155G>A uc003msx.2 + 6 755 c.316G>A c.(316-318)GTC>ATC p.V106I DUSP22_uc011dhn.1_Missense_Mutation_p.V106I|DUSP22_uc003msy.1_Missense_Mutation_p.V63I NM_020185 NP_064570 Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 106 Tyrosine-protein phosphatase. apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.V106I(1) ovary(1)|kidney(1)|central_nervous_system(1) 3 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) CATCATGACCGTCACTGACTT 0.602 EXOC2 55770 broad.mit.edu 37 6 637806 637806 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:637806G>A uc003mtd.2 - 2 147 c.13C>T c.(13-15)CGA>TGA p.R5* EXOC2_uc003mte.2_Nonsense_Mutation_p.R5*|EXOC2_uc011dho.1_Intron NM_018303 NP_060773 Q96KP1 EXOC2_HUMAN Sec5 protein 5 exocytosis|protein transport breast(4)|ovary(2)|pancreas(1) 7 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) GGGGGTTGTCGTGATCGAGAC 0.478 BPHL 670 broad.mit.edu 37 6 3127615 3127615 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:3127615T>C uc003mva.2 + 3 400 c.351T>C c.(349-351)GAT>GAC p.D117D BPHL_uc003muz.2_RNA|BPHL_uc011dht.1_RNA|BPHL_uc003muy.2_Silent_p.D100D NM_004332 NP_004323 Q86WA6 BPHL_HUMAN biphenyl hydrolase-like precursor 117 cellular amino acid metabolic process|response to toxin mitochondrion hydrolase activity 0 Ovarian(93;0.0386) all_hematologic(90;0.108) TTGAAAGGGATGCAAAAGATG 0.493 TUBB2A 7280 broad.mit.edu 37 6 3154798 3154798 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:3154798G>A uc003mvc.2 - 4 723 c.637C>T c.(637-639)CGC>TGC p.R213C TUBB2A_uc003mvb.2_Missense_Mutation_p.R206C|TUBB2A_uc003mvd.2_Missense_Mutation_p.R176C NM_001069 NP_001060 Q13885 TBB2A_HUMAN tubulin, beta 2 213 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity skin(1) 1 Ovarian(93;0.0386) all_hematologic(90;0.0895) TTCAGGGTGCGGAAGCAGATG 0.612 BMP6 654 broad.mit.edu 37 6 7862635 7862635 + Missense_Mutation SNP G G A rs144134653 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:7862635G>A uc003mxu.3 + 4 1286 c.1108G>A c.(1108-1110)GTG>ATG p.V370M NM_001718 NP_001709 P22004 BMP6_HUMAN bone morphogenetic protein 6 preproprotein 370 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity large_intestine(2)|ovary(1) 3 Ovarian(93;0.0721) TGAGGTGCACGTGCGCACCAC 0.642 ALDH5A1 7915 broad.mit.edu 37 6 24503644 24503644 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:24503644G>T uc003neg.2 + 3 620 c.592G>T c.(592-594)GCT>TCT p.A198S ALDH5A1_uc003nef.2_Missense_Mutation_p.A198S NM_001080 NP_001071 P51649 SSDH_HUMAN aldehyde dehydrogenase 5A1 isoform 2 precursor 198 acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process mitochondrial matrix|soluble fraction succinate-semialdehyde dehydrogenase activity 0 Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139) CATAGGCGTGGCTGCAGTCAT 0.567 SLC17A3 10786 broad.mit.edu 37 6 25862609 25862609 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:25862609G>A uc003nfi.3 - 3 265 c.155C>T c.(154-156)ACG>ATG p.T52M SLC17A3_uc003nfk.3_Missense_Mutation_p.T52M|SLC17A3_uc011djz.1_Missense_Mutation_p.T52M|SLC17A3_uc011dka.1_Missense_Mutation_p.T52M NM_006632 NP_006623 O00476 NPT4_HUMAN solute carrier family 17 (sodium phosphate), 52 glucose-6-phosphate transport|urate metabolic process apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity 0 TTGTGCTATCGTTGTGAAATT 0.408 ABT1 29777 broad.mit.edu 37 6 26598515 26598515 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:26598515C>T uc003nii.2 + 3 492 c.461C>T c.(460-462)TCC>TTC p.S154F NM_013375 NP_037507 Q9ULW3 ABT1_HUMAN activator of basal transcription 1 154 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleolus DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity ovary(1) 1 TTCACCTGGTCCCACCTCAGC 0.542 ZNF184 7738 broad.mit.edu 37 6 27419587 27419587 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:27419587C>T uc003njj.2 - 5 2562 c.1751G>A c.(1750-1752)CGA>CAA p.R584Q ZNF184_uc010jqv.2_Missense_Mutation_p.R584Q|ZNF184_uc003nji.2_Missense_Mutation_p.R584Q NM_007149 NP_009080 Q99676 ZN184_HUMAN zinc finger protein 184 584 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CTTGTAAGGTCGTTCTCCAGT 0.423 HIST1H3I 8354 broad.mit.edu 37 6 27839989 27839989 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:27839989G>A uc003njy.2 - 1 111 c.105C>T c.(103-105)GGC>GGT p.G35G NM_003533 NP_003524 P68431 H31_HUMAN histone cluster 1, H3i 35 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding ovary(1) 1 GCTTCTTGACGCCACCGGTGG 0.667 PGBD1 84547 broad.mit.edu 37 6 28251732 28251732 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:28251732C>T uc003nky.2 + 2 512 c.142C>T c.(142-144)CGG>TGG p.R48W PGBD1_uc003nkz.2_Missense_Mutation_p.R48W NM_032507 NP_115896 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 48 SCAN box. viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity ovary(4) 4 CCTGCGCTTTCGGCACTTCTG 0.582 TRIM26 7726 broad.mit.edu 37 6 30154048 30154048 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:30154048C>T uc003npr.2 - 9 1434 c.1225G>A c.(1225-1227)GAC>AAC p.D409N TRIM26_uc003nps.2_Missense_Mutation_p.D409N|TRIM26_uc010jry.2_Missense_Mutation_p.D139N|TRIM26_uc003npt.2_Missense_Mutation_p.D409N NM_003449 NP_003440 Q12899 TRI26_HUMAN tripartite motif-containing 26 409 B30.2/SPRY. DNA binding|zinc ion binding ovary(2)|lung(1) 3 GTTTCCCAGTCGTCATATCCA 0.313 ABCF1 23 broad.mit.edu 37 6 30554313 30554313 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:30554313A>G uc003nql.2 + 19 2043 c.1948A>G c.(1948-1950)ATG>GTG p.M650V ABCF1_uc003nqm.2_Missense_Mutation_p.M612V|ABCF1_uc010jsb.2_Intron NM_001025091 NP_001020262 Q8NE71 ABCF1_HUMAN ATP-binding cassette, sub-family F, member 1 650 ABC transporter 2. inflammatory response|translational initiation nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding ovary(2) 2 TGGCATCGACATGGATTCAAG 0.483 BAT2 7916 broad.mit.edu 37 6 31590652 31590652 + Missense_Mutation SNP A A C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:31590652A>C uc003nvb.3 + 2 335 c.86A>C c.(85-87)AAG>ACG p.K29T BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Missense_Mutation_p.K29T|SNORA38_uc003nvd.2_5'Flank|BAT2_uc003nve.2_5'Flank NM_080686 NP_542417 P48634 PRC2A_HUMAN HLA-B associated transcript-2 29 cytoplasm|nucleus protein binding 0 TATAAGGGCAAGTCCTTAGAG 0.502 BAT2 7916 broad.mit.edu 37 6 31597497 31597497 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:31597497G>A uc003nvb.3 + 14 2378 c.2129G>A c.(2128-2130)CGG>CAG p.R710Q BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.R710Q NM_080686 NP_542417 P48634 PRC2A_HUMAN HLA-B associated transcript-2 710 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding 0 GCTCTGGGCCGGCCCCCACCC 0.662 C6orf26 401251 broad.mit.edu 37 6 31731318 31731318 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:31731318G>A uc003nxa.3 + 2 300 c.241G>A c.(241-243)GGG>AGG p.G81R MSH5_uc003nwz.3_RNA NM_001039651 NP_001034740 Q5SSQ6 G7D_HUMAN hypothetical protein LOC401251 81 0 GCTGCATCTAGGGGCCCTTGG 0.607 SLC44A4 80736 broad.mit.edu 37 6 31833884 31833884 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:31833884G>A uc010jti.2 - 14 1319 c.1253C>T c.(1252-1254)TCG>TTG p.S418L NM_025257 NP_079533 Q53GD3 CTL4_HUMAN choline transporter-like protein 4 418 Extracellular (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity large_intestine(2)|ovary(1)|central_nervous_system(1) 4 Choline(DB00122) CCCTGGGCACGAGGAGTTCAC 0.582 EGFL8 80864 broad.mit.edu 37 6 32135153 32135153 + Missense_Mutation SNP G G A rs149576421 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:32135153G>A uc003oab.1 + 7 686 c.628G>A c.(628-630)GCT>ACT p.A210T PPT2_uc003nzy.1_RNA|EGFL8_uc003oac.1_Missense_Mutation_p.A210T NM_030652 NP_085155 Q99944 EGFL8_HUMAN NG3 protein precursor 210 Potential. extracellular region|integral to membrane calcium ion binding 0 AGATGAGCGCGCTCTGAAGCA 0.652 HLA-DRA 3122 broad.mit.edu 37 6 32411064 32411064 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:32411064T>C uc003obh.2 + 3 512 c.431T>C c.(430-432)GTC>GCC p.V144A HLA-DRA_uc003obi.2_Missense_Mutation_p.V119A NM_019111 NP_061984 P01903 DRA_HUMAN major histocompatibility complex, class II, DR 144 Ig-like C1-type.|Extracellular (Potential).|Alpha-2. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity ovary(1)|skin(1) 2 GTGGTCAATGTCACGTGGCTT 0.527 T-cell_Lymphoma_(Cutaneous)__Familial_Clustering_of|Kaposi_Sarcoma_Familial_Clustering_of TAP2 6891 broad.mit.edu 37 6 32782287 32782287 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:32782287C>T uc011dqf.1 - 14 2396 c.2274G>A c.(2272-2274)GGG>GGA p.G758G HLA-DOB_uc003oca.2_Silent_p.G151G|HLA-DOB_uc011dqg.1_Silent_p.G151G NM_018833 NP_061313 Q03519 TAP2_HUMAN transporter 2, ATP-binding cassette, sub-family Error:Variant_position_missing_in_Q03519_after_alignment antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity nucleus|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding 0 TCTTGATATCCCCTGGATAGA 0.547 COL11A2 1302 broad.mit.edu 37 6 33144778 33144778 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:33144778G>A uc003ocx.1 - 25 2289 c.2061C>T c.(2059-2061)GAC>GAT p.D687D COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Silent_p.D601D|COL11A2_uc003ocz.1_Silent_p.D580D NM_080680 NP_542411 P13942 COBA2_HUMAN collagen, type XI, alpha 2 isoform 1 687 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging ovary(3)|skin(2) 5 CCGGGGGTCCGTCTGAGCCAG 0.607 B3GALT4 8705 broad.mit.edu 37 6 33245751 33245751 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:33245751G>A uc003odr.2 + 1 835 c.555G>A c.(553-555)CTG>CTA p.L185L NM_003782 NP_003773 O96024 B3GT4_HUMAN UDP-Gal:betaGlcNAc beta 185 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity ovary(1)|breast(1) 2 TCCCTGAACTGGTATCAGAGC 0.582 UHRF1BP1 54887 broad.mit.edu 37 6 34825149 34825149 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:34825149T>C uc003oju.3 + 12 1709 c.1475T>C c.(1474-1476)CTT>CCT p.L492P UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_5'Flank NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN ICBP90 binding protein 1 492 ovary(3) 3 TCTACACTCCTTTCCTGCAGT 0.443 MDGA1 266727 broad.mit.edu 37 6 37619917 37619917 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:37619917G>A uc003onu.1 - 7 2361 c.1182C>T c.(1180-1182)CCC>CCT p.P394P MDGA1_uc003onw.3_RNA NM_153487 NP_705691 Q8NFP4 MDGA1_HUMAN MAM domain containing 394 Ig-like 4. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2) 2 TGGTGACTGCGGGCAGCTCAG 0.602 ZFAND3 60685 broad.mit.edu 37 6 38120107 38120107 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:38120107T>C uc003onx.2 + 6 1041 c.626T>C c.(625-627)GTG>GCG p.V209A NM_021943 NP_068762 Q9H8U3 ZFAN3_HUMAN zinc finger, AN1-type domain 3 209 DNA binding|zinc ion binding ovary(1) 1 ATGAAAATGGTGAAGCTGGAC 0.597 DNAH8 1769 broad.mit.edu 37 6 38840746 38840746 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:38840746C>T uc003ooe.1 + 49 7251 c.6651C>T c.(6649-6651)TCC>TCT p.S2217S NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 ACTTAAATTCCGTTTTGGATG 0.378 UBR2 23304 broad.mit.edu 37 6 42633221 42633221 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:42633221A>G uc011dur.1 + 33 3773 c.3773A>G c.(3772-3774)CAG>CGG p.Q1258R UBR2_uc011dus.1_Missense_Mutation_p.Q903R|UBR2_uc003osh.2_RNA NM_015255 NP_056070 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 1258 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding ovary(3)|pancreas(1) 4 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) AAAGCATTACAGTTTCTTAGG 0.333 KIAA0240 23506 broad.mit.edu 37 6 42796237 42796237 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:42796237G>A uc003osn.1 + 6 317 c.166G>A c.(166-168)GAT>AAT p.D56N KIAA0240_uc003osm.1_Missense_Mutation_p.D56N|KIAA0240_uc011duw.1_Missense_Mutation_p.D56N|KIAA0240_uc003oso.1_Missense_Mutation_p.D56N|KIAA0240_uc003osp.1_Missense_Mutation_p.D56N NM_015349 NP_056164 Q6AI39 K0240_HUMAN hypothetical protein LOC23506 56 ovary(1) 1 Colorectal(47;0.196) Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104) TTAGAATGCTGATCCTAAGTC 0.343 CUL9 23113 broad.mit.edu 37 6 43152490 43152490 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:43152490G>A uc003ouk.2 + 2 517 c.442G>A c.(442-444)GTG>ATG p.V148M CUL9_uc003ouj.1_Missense_Mutation_p.V148M|CUL9_uc003oul.2_Missense_Mutation_p.V148M|CUL9_uc010jyk.2_Translation_Start_Site|CUL9_uc003oum.1_5'Flank NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 148 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1) 12 CACCATCCACGTGCTCAGTGC 0.622 TDRD6 221400 broad.mit.edu 37 6 46656522 46656522 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:46656522C>T uc003oyj.2 + 1 657 c.657C>T c.(655-657)AGC>AGT p.S219S TDRD6_uc010jze.2_Silent_p.S213S NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 219 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) CCACTGCTAGCGTGGGCTCCG 0.647 C6orf138 442213 broad.mit.edu 37 6 47846191 47846191 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:47846191G>T uc011dwm.1 - 3 2423 c.2338C>A c.(2338-2340)CTG>ATG p.L780M C6orf138_uc011dwn.1_Missense_Mutation_p.L544M NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN hypothetical protein LOC442213 797 Helical; (Potential). integral to membrane hedgehog receptor activity central_nervous_system(1) 1 AAACAGTGCAGAAGTGTGCAA 0.448 KIAA1586 57691 broad.mit.edu 37 6 56919147 56919147 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:56919147G>A uc003pdj.2 + 4 2020 c.1850G>A c.(1849-1851)CGC>CAC p.R617H KIAA1586_uc011dxm.1_Missense_Mutation_p.R590H NM_020931 NP_065982 Q9HCI6 K1586_HUMAN hypothetical protein LOC57691 617 nucleic acid binding 0 Lung NSC(77;0.0969) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) ATGAACCTACGCCTTTTATCT 0.308 EYS 346007 broad.mit.edu 37 6 66045023 66045023 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:66045023C>A uc011dxu.1 - 11 2154 c.1616G>T c.(1615-1617)TGC>TTC p.C539F EYS_uc003peq.2_Missense_Mutation_p.C539F|EYS_uc003per.1_Missense_Mutation_p.C539F NM_001142800 NP_001136272 Q5T1H1 EYS_HUMAN eyes shut homolog isoform 1 539 response to stimulus|visual perception extracellular region calcium ion binding lung(4)|ovary(1)|skin(1) 6 CAAACAACTGCATCCATTTGC 0.308 COL9A1 1297 broad.mit.edu 37 6 71011710 71011710 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:71011710G>A uc003pfg.3 - 2 241 c.82C>T c.(82-84)CGC>TGC p.R28C NM_001851 NP_001842 P20849 CO9A1_HUMAN alpha 1 type IX collagen isoform 1 precursor 28 Nonhelical region (NC4). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding ovary(4) 4 TTACTGGGGCGACGCTTGACA 0.463 RIMS1 22999 broad.mit.edu 37 6 72678706 72678706 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:72678706C>T uc003pga.2 + 2 262 c.185C>T c.(184-186)GCG>GTG p.A62V NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 62 RabBD. 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) AGGGACATGGCGAAGCCTGCT 0.453 KCNQ5 56479 broad.mit.edu 37 6 73902416 73902416 + Splice_Site SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:73902416T>C uc003pgk.2 + 13 2183 c.1836_splice c.e13+2 p.Q612_splice KCNQ5_uc011dyh.1_Splice_Site_p.Q631_splice|KCNQ5_uc011dyi.1_Splice_Site_p.Q622_splice|KCNQ5_uc010kat.2_Splice_Site_p.Q603_splice|KCNQ5_uc011dyj.1_Splice_Site_p.Q502_splice|KCNQ5_uc011dyk.1_Splice_Site_p.Q362_splice NM_019842 NP_062816 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(4)|large_intestine(2)|skin(1) 7 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) GAAAAACAGGTACAACTCAAC 0.353 COL12A1 1303 broad.mit.edu 37 6 75797321 75797321 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:75797321G>T uc003phs.2 - 65 9319 c.9153C>A c.(9151-9153)AGC>AGA p.S3051R COL12A1_uc003pht.2_Missense_Mutation_p.S1887R NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 3051 Nonhelical region (NC1). cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 TGTATGGGATGCTGGCACACT 0.537 COL12A1 1303 broad.mit.edu 37 6 75814988 75814988 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:75814988A>G uc003phs.2 - 54 8365 c.8199T>C c.(8197-8199)CCT>CCC p.P2733P COL12A1_uc003pht.2_Silent_p.P1569P NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 2733 Nonhelical region (NC3). cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 TTGGAAAAGCAGGGCATTTTC 0.428 SNX14 57231 broad.mit.edu 37 6 86223561 86223561 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:86223561T>C uc003pkr.2 - 26 2803 c.2610A>G c.(2608-2610)AAA>AAG p.K870K SNX14_uc003pkp.2_Silent_p.K733K|SNX14_uc003pkq.2_Silent_p.K476K|SNX14_uc011dzg.1_Silent_p.K818K|SNX14_uc003pks.2_Silent_p.K817K|SNX14_uc003pkt.2_Silent_p.K861K NM_153816 NP_722523 Q9Y5W7 SNX14_HUMAN sorting nexin 14 isoform a 870 cell communication|protein transport integral to membrane phosphatidylinositol binding|signal transducer activity 0 all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24) BRCA - Breast invasive adenocarcinoma(108;0.0423) GTTTTGCTCCTTTTTGCTTAT 0.308 ANKRD6 22881 broad.mit.edu 37 6 90340559 90340559 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:90340559G>A uc003pni.3 + 16 2361 c.2020G>A c.(2020-2022)GCT>ACT p.A674T ANKRD6_uc003pne.3_Missense_Mutation_p.A669T|ANKRD6_uc003pnf.3_Missense_Mutation_p.A639T|ANKRD6_uc011dzy.1_Missense_Mutation_p.A674T|ANKRD6_uc010kcd.2_Missense_Mutation_p.A610T|LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_Intron|ANKRD6_uc003pnh.3_Missense_Mutation_p.A270T|LYRM2_uc010kcf.1_Intron|ANKRD6_uc003pnj.3_Missense_Mutation_p.A270T NM_014942 NP_055757 Q9Y2G4 ANKR6_HUMAN ankyrin repeat domain 6 674 protein binding ovary(2)|pancreas(1) 3 all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239) BRCA - Breast invasive adenocarcinoma(108;0.0209) TTTTTTTGAGGCTGTTTCTAC 0.522 MDN1 23195 broad.mit.edu 37 6 90402442 90402442 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:90402442G>A uc003pnn.1 - 63 10423 c.10307C>T c.(10306-10308)GCC>GTC p.A3436V NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 3436 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CAAGGCTGTGGCCAGGGTCCC 0.567 BACH2 60468 broad.mit.edu 37 6 90642584 90642584 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:90642584G>A uc011eab.1 - 9 2878 c.2069C>T c.(2068-2070)TCA>TTA p.S690L BACH2_uc003pnw.2_Missense_Mutation_p.S690L NM_021813 NP_068585 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper 690 Leucine-zipper. nucleus protein dimerization activity|sequence-specific DNA binding ovary(3)|pancreas(1)|lung(1)|skin(1) 6 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) ATTCCTCTCTGACAACAGTTT 0.493 EPHA7 2045 broad.mit.edu 37 6 93967182 93967182 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:93967182T>C uc003poe.2 - 12 2411 c.2170A>G c.(2170-2172)AGG>GGG p.R724G EPHA7_uc003pof.2_Missense_Mutation_p.R719G|EPHA7_uc011eac.1_Missense_Mutation_p.R720G NM_004440 NP_004431 Q15375 EPHA7_HUMAN ephrin receptor EphA7 precursor 724 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1) 28 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) GTACTTACCCTGAGAAATGCA 0.328 KLHL32 114792 broad.mit.edu 37 6 97587132 97587132 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:97587132C>T uc010kcm.1 + 11 2309 c.1837C>T c.(1837-1839)CCT>TCT p.P613S KLHL32_uc011ead.1_Missense_Mutation_p.P577S|KLHL32_uc003poz.2_Missense_Mutation_p.P169S|KLHL32_uc011eae.1_Missense_Mutation_p.P544S|KLHL32_uc003ppa.2_RNA NM_052904 NP_443136 Q96NJ5 KLH32_HUMAN kelch-like 32 613 ovary(3)|skin(1) 4 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) BRCA - Breast invasive adenocarcinoma(108;0.0558) TCTTCAAGTGCCTCATCACAG 0.458 C6orf167 253714 broad.mit.edu 37 6 97711260 97711260 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:97711260A>G uc003ppb.2 - 9 1159 c.893T>C c.(892-894)GTT>GCT p.V298A C6orf167_uc011eaf.1_Missense_Mutation_p.V298A|C6orf167_uc010kcn.1_Missense_Mutation_p.V72A|C6orf167_uc010kco.1_Intron|C6orf167_uc003ppc.2_Missense_Mutation_p.V298A NM_198468 NP_940870 Q6ZRQ5 MMS22_HUMAN hypothetical protein LOC253714 298 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding 0 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198) BRCA - Breast invasive adenocarcinoma(108;0.0457) AATAAGTAGAACCCATAATTC 0.313 C6orf186 728464 broad.mit.edu 37 6 110620298 110620298 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:110620298C>A uc010kdu.1 - 4 613 c.613G>T c.(613-615)GTG>TTG p.V205L C6orf186_uc003pub.2_Missense_Mutation_p.V8L NM_001123364 NP_001116836 Q5JXM2 CF186_HUMAN chromosome 6 open reading frame 186 precursor 205 extracellular region 0 AAACGATGCACTTCACATCCG 0.458 ROS1 6098 broad.mit.edu 37 6 117674208 117674208 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:117674208C>A uc003pxp.1 - 26 4465 c.4266G>T c.(4264-4266)AAG>AAT p.K1422N ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 1422 Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TCCTTAGGGCCTTCACCTGGG 0.443 T GOPC|ROS1 glioblastoma|NSCLC GJA1 2697 broad.mit.edu 37 6 121768495 121768495 + Missense_Mutation SNP G G A rs111717577 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:121768495G>A uc003pyr.2 + 2 752 c.502G>A c.(502-504)GCC>ACC p.A168T GJA1_uc011ebo.1_Missense_Mutation_p.A69T|GJA1_uc011ebp.1_5'UTR NM_000165 NP_000156 P17302 CXA1_HUMAN connexin 43 168 Helical; (Potential). cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft ion transmembrane transporter activity|signal transducer activity ovary(2) 2 GBM - Glioblastoma multiforme(226;0.00252) Carvedilol(DB01136) CTTTGAGGTGGCCTTCTTGCT 0.473 PTPRK 5796 broad.mit.edu 37 6 128318068 128318068 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:128318068G>T uc003qbk.2 - 17 3109 c.2742C>A c.(2740-2742)AAC>AAA p.N914K PTPRK_uc003qbj.2_Missense_Mutation_p.N915K|PTPRK_uc010kfc.2_Missense_Mutation_p.N915K|PTPRK_uc011ebu.1_Missense_Mutation_p.N931K NM_002844 NP_002835 Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 914 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1) 8 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) TTCCATATCGGTTTTTTGCTC 0.318 ARHGAP18 93663 broad.mit.edu 37 6 129959703 129959703 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:129959703G>T uc003qbr.2 - 3 477 c.388C>A c.(388-390)CCA>ACA p.P130T ARHGAP18_uc011ebw.1_Missense_Mutation_p.P130T NM_033515 NP_277050 Q8N392 RHG18_HUMAN Rho GTPase activating protein 18 130 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074) CTTTCCTGTGGATCTCCAGCA 0.463 SHPRH 257218 broad.mit.edu 37 6 146262872 146262872 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:146262872G>A uc003qlf.2 - 10 2776 c.2377C>T c.(2377-2379)CGT>TGT p.R793C SHPRH_uc003qld.2_Missense_Mutation_p.R793C|SHPRH_uc003qle.2_Missense_Mutation_p.R793C|SHPRH_uc003qlg.1_Missense_Mutation_p.R349C|SHPRH_uc003qlj.1_Missense_Mutation_p.R682C NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase isoform a 793 Helicase ATP-binding; second part. DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1)|kidney(1)|central_nervous_system(1) 3 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) CGTAGGCGACGCCCATCCTCA 0.468 ULBP1 80329 broad.mit.edu 37 6 150290280 150290280 + Nonsense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:150290280G>T uc003qnp.2 + 3 452 c.409G>T c.(409-411)GGA>TGA p.G137* NM_025218 NP_079494 Q9BZM6 N2DL1_HUMAN UL16 binding protein 1 precursor 137 MHC class I alpha-2 like. antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response anchored to membrane|endoplasmic reticulum|MHC class I protein complex MHC class I receptor activity pancreas(1) 1 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.14e-11) ACACGGCAGAGGATCTTGGCA 0.512 C6orf211 79624 broad.mit.edu 37 6 151785658 151785658 + Missense_Mutation SNP A A T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:151785658A>T uc003qok.1 + 4 722 c.463A>T c.(463-465)ATC>TTC p.I155F C6orf211_uc011ees.1_Missense_Mutation_p.I36F NM_024573 NP_078849 Q9H993 CF211_HUMAN hypothetical protein LOC79624 155 protein binding 0 BRCA - Breast invasive adenocarcinoma(37;0.183) OV - Ovarian serous cystadenocarcinoma(155;5.27e-11) ACAGGAATCCATCATTGCTTT 0.328 SYNE1 23345 broad.mit.edu 37 6 152469223 152469223 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:152469223C>A uc010kiw.2 - 137 25535 c.24933G>T c.(24931-24933)CAG>CAT p.Q8311H SYNE1_uc010kiv.2_Missense_Mutation_p.Q2835H|SYNE1_uc003qos.3_Missense_Mutation_p.Q2835H|SYNE1_uc003qot.3_Missense_Mutation_p.Q8240H|SYNE1_uc003qou.3_Missense_Mutation_p.Q8311H|SYNE1_uc003qop.3_Missense_Mutation_p.Q473H|SYNE1_uc011eez.1_Missense_Mutation_p.Q513H|SYNE1_uc003qoq.3_Missense_Mutation_p.Q513H|SYNE1_uc003qor.3_Missense_Mutation_p.Q1211H NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8311 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTTTGTCATCCTGACCTTCTT 0.512 HNSCC(10;0.0054) TIAM2 26230 broad.mit.edu 37 6 155561718 155561718 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:155561718G>A uc003qqb.2 + 18 4496 c.3223G>A c.(3223-3225)GGC>AGC p.G1075S TIAM2_uc003qqe.2_Missense_Mutation_p.G1075S|TIAM2_uc010kjj.2_Missense_Mutation_p.G608S|TIAM2_uc003qqf.2_Missense_Mutation_p.G451S|TIAM2_uc011efl.1_Missense_Mutation_p.G411S|TIAM2_uc003qqg.2_Missense_Mutation_p.G387S|TIAM2_uc003qqh.2_5'UTR NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 1075 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) TCAGGCCAACGGCATGGAAGG 0.577 SYNJ2 8871 broad.mit.edu 37 6 158492720 158492720 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:158492720G>T uc003qqx.1 + 15 2102 c.2027G>T c.(2026-2028)AGC>ATC p.S676I SYNJ2_uc003qqw.1_Missense_Mutation_p.S676I|SYNJ2_uc003qqy.1_Missense_Mutation_p.S389I|SYNJ2_uc003qqz.1_Missense_Mutation_p.S293I|SYNJ2_uc003qra.1_Missense_Mutation_p.S19I NM_003898 NP_003889 O15056 SYNJ2_HUMAN synaptojanin 2 676 Catalytic (By similarity). nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) CAGTTCCACAGCACCAGCTTC 0.587 ACAT2 39 broad.mit.edu 37 6 160199806 160199806 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:160199806C>T uc010kjy.2 + 9 1270 c.1139C>T c.(1138-1140)GCA>GTA p.A380V ACAT2_uc011efw.1_Missense_Mutation_p.A409V|TCP1_uc003qsr.2_3'UTR|TCP1_uc003qss.2_3'UTR|TCP1_uc010kjz.2_3'UTR|TCP1_uc003qst.2_3'UTR NM_005891 NP_005882 Q9BWD1 THIC_HUMAN acetyl-Coenzyme A acetyltransferase 2 380 mitochondrion|nucleolus acetyl-CoA C-acetyltransferase activity|protein binding ovary(1)|central_nervous_system(1) 2 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) CGTGGTGTTGCAGCCCTGTGC 0.468 LPA 4018 broad.mit.edu 37 6 161027563 161027563 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:161027563C>T uc003qtl.2 - 18 2851 c.2731G>A c.(2731-2733)GTC>ATC p.V911I NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 3419 Kringle 30. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) GGAGGCGCGACGGCAGTCCCT 0.547 PHF10 55274 broad.mit.edu 37 6 170118937 170118937 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:170118937T>C uc011egy.1 - 3 351 c.272A>G c.(271-273)CAA>CGA p.Q91R PHF10_uc011egz.1_Missense_Mutation_p.Q91R|PHF10_uc011eha.1_5'Flank NM_018288 NP_060758 Q8WUB8 PHF10_HUMAN PHD finger protein 10 isoform a 91 SAY.|Essential to induce neural progenitor proliferation (By similarity). nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent npBAF complex zinc ion binding urinary_tract(1) 1 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176) GACTTGTTCTTGAAGCATATA 0.299 HEATR2 54919 broad.mit.edu 37 7 769421 769421 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:769421C>T uc010krz.1 + 2 737 c.717C>T c.(715-717)AAC>AAT p.N239N PRKAR1B_uc003siw.1_5'Flank|HEATR2_uc003siz.2_Silent_p.N107N NM_017802 NP_060272 Q86Y56 HEAT2_HUMAN HEAT repeat containing 2 239 HEAT 2. protein binding skin(1) 1 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14) ATTTTGGCAACGGGAAGTCCG 0.567 SUN1 23353 broad.mit.edu 37 7 872217 872217 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:872217C>T uc011jvp.1 + 2 135 c.56C>T c.(55-57)ACG>ATG p.T19M SUN1_uc010ksa.1_Missense_Mutation_p.T40M|SUN1_uc003sje.1_Missense_Mutation_p.T19M|SUN1_uc003sjf.2_Intron|SUN1_uc011jvq.1_Missense_Mutation_p.T19M NM_001130965 NP_001124437 O94901 SUN1_HUMAN unc-84 homolog A isoform a 19 Nuclear.|LMNA-binding. cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding 0 CCGGAGAACACGGGCTACACG 0.567 EIF3B 8662 broad.mit.edu 37 7 2418871 2418871 + Nonsense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:2418871C>T uc003slx.2 + 17 2418 c.2335C>T c.(2335-2337)CGA>TGA p.R779* EIF3B_uc003sly.2_Nonsense_Mutation_p.R779*|EIF3B_uc003sma.2_Nonsense_Mutation_p.R507*|EIF3B_uc003smb.2_RNA NM_003751 NP_003742 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, 779 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) CCTGGAGTTGCGAGGAGGTAA 0.592 CYTH3 9265 broad.mit.edu 37 7 6210230 6210230 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:6210230G>A uc003spt.2 - 9 863 c.759C>T c.(757-759)GAC>GAT p.D253D CYTH3_uc011jws.1_Silent_p.D168D NM_004227 NP_004218 O43739 CYH3_HUMAN cytohesin 3 253 regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport cytoplasm|membrane fraction|plasma membrane 1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity 0 CGTTCCCGTCGTCCTCCGGGA 0.602 DNAH11 8701 broad.mit.edu 37 7 21747335 21747335 + Nonsense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:21747335C>T uc003svc.2 + 41 6617 c.6586C>T c.(6586-6588)CGA>TGA p.R2196* NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2196 AAA 2 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 AACACTGAACCGAACATATGT 0.378 Kartagener_syndrome IGF2BP3 10643 broad.mit.edu 37 7 23509592 23509592 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:23509592G>A uc003swg.2 - 1 404 c.138C>T c.(136-138)GAC>GAT p.D46D IGF2BP3_uc003swh.1_RNA NM_006547 NP_006538 O00425 IF2B3_HUMAN insulin-like growth factor 2 mRNA binding 46 RRM 1. anatomical structure morphogenesis|negative regulation of translation|translation cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity ovary(2) 2 CCCAGCTCTCGTCCGGGCAGT 0.697 STK31 56164 broad.mit.edu 37 7 23811811 23811811 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:23811811G>A uc003sws.3 + 15 1946 c.1879G>A c.(1879-1881)GAT>AAT p.D627N STK31_uc003swt.3_Missense_Mutation_p.D604N|STK31_uc011jze.1_Missense_Mutation_p.D627N|STK31_uc010kuq.2_Missense_Mutation_p.D604N NM_031414 NP_113602 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 isoform a 627 ATP binding|nucleic acid binding|protein serine/threonine kinase activity skin(3)|lung(2)|ovary(2)|stomach(2) 9 TCCCAGTGTGGATCACTTGCT 0.303 HOXA3 3200 broad.mit.edu 37 7 27149829 27149829 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:27149829G>T uc011jzl.1 - 2 631 c.431C>A c.(430-432)CCC>CAC p.P144H HOXA3_uc011jzk.1_5'UTR|HOXA3_uc003syk.2_Missense_Mutation_p.P144H NM_030661 NP_109377 O43365 HXA3_HUMAN homeobox A3 isoform a 144 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2) 2 GTTGAGCAGGGGGCTCTTGGC 0.453 C7orf41 222166 broad.mit.edu 37 7 30185810 30185810 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:30185810C>T uc011kab.1 + 2 381 c.180C>T c.(178-180)AGC>AGT p.S60S C7orf41_uc010kvr.1_RNA|C7orf41_uc003tar.1_Silent_p.S60S NM_152793 NP_690006 Q8N3F0 CG041_HUMAN hypothetical protein LOC222166 60 0 GGAGTGAGAGCGAGGACTGCC 0.522 PDE1C 5137 broad.mit.edu 37 7 31890296 31890296 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:31890296G>A uc003tcm.1 - 8 1279 c.810C>T c.(808-810)TAC>TAT p.Y270Y PDE1C_uc003tcn.1_Silent_p.Y270Y|PDE1C_uc003tco.1_Silent_p.Y330Y|PDE1C_uc003tcr.2_Silent_p.Y270Y|PDE1C_uc003tcs.2_Silent_p.Y270Y NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C 270 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(3)|central_nervous_system(1) 4 GBM - Glioblastoma multiforme(11;0.216) CGGTATGCTCGTAGTCATGGA 0.443 GLI3 2737 broad.mit.edu 37 7 42005174 42005174 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:42005174C>A uc011kbh.1 - 15 3588 c.3497G>T c.(3496-3498)AGC>ATC p.S1166I GLI3_uc011kbg.1_Missense_Mutation_p.S1107I NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 1166 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 GCTTCCGGAGCTGACTTCGTT 0.667 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome GLI3 2737 broad.mit.edu 37 7 42012141 42012141 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:42012141C>A uc011kbh.1 - 13 1989 c.1898G>T c.(1897-1899)GGC>GTC p.G633V GLI3_uc011kbg.1_Missense_Mutation_p.G574V NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 633 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 AGCCTCTGGGCCATGCACTGT 0.577 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome AEBP1 165 broad.mit.edu 37 7 44151800 44151800 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:44151800T>C uc003tkb.2 + 17 2402 c.2097T>C c.(2095-2097)TTT>TTC p.F699F AEBP1_uc003tkc.3_Silent_p.F274F|AEBP1_uc003tkd.2_Intron NM_001129 NP_001120 Q8IUX7 AEBP1_HUMAN adipocyte enhancer binding protein 1 precursor 699 Interaction with PTEN (By similarity). cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 TTGACATCTTTGAAGATTTCC 0.587 ZMIZ2 83637 broad.mit.edu 37 7 44806205 44806205 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:44806205C>T uc003tlr.2 + 18 2721 c.2598C>T c.(2596-2598)GGC>GGT p.G866G ZMIZ2_uc003tlq.2_Silent_p.G808G|ZMIZ2_uc003tls.2_Silent_p.G840G|ZMIZ2_uc003tlt.2_Silent_p.G489G|ZMIZ2_uc010kyj.2_Silent_p.G388G|ZMIZ2_uc003tlu.2_Silent_p.G147G|ZMIZ2_uc010kyk.1_5'Flank NM_031449 NP_113637 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 isoform 1 866 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding ovary(2)|large_intestine(2)|breast(1) 5 CTGCCACAGGCGTGATGGGGC 0.677 MYO1G 64005 broad.mit.edu 37 7 45016545 45016545 + Missense_Mutation SNP C C T rs144045009 byFrequency TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:45016545C>T uc003tmh.2 - 2 365 c.221G>A c.(220-222)CGG>CAG p.R74Q MYO1G_uc003tmg.2_5'Flank|MYO1G_uc010kym.2_Intron|MYO1G_uc003tmi.1_5'UTR|MYO1G_uc003tmj.2_5'UTR NM_033054 NP_149043 B0I1T2 MYO1G_HUMAN myosin IG 74 Myosin head-like. myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity breast(2)|ovary(1)|pancreas(1) 4 ATGGGGTGGCCGCTCATAGAG 0.627 ABCA13 154664 broad.mit.edu 37 7 48375117 48375117 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:48375117G>T uc003toq.2 + 28 10123 c.10098G>T c.(10096-10098)ATG>ATT p.M3366I ABCA13_uc010kys.1_Missense_Mutation_p.M440I|ABCA13_uc003tos.1_Missense_Mutation_p.M192I NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 3366 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 GTGGCCAGATGTTCAACCAGC 0.483 ABCA13 154664 broad.mit.edu 37 7 48411974 48411974 + Missense_Mutation SNP T T G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:48411974T>G uc003toq.2 + 33 11038 c.11013T>G c.(11011-11013)TTT>TTG p.F3671L ABCA13_uc010kys.1_Missense_Mutation_p.F745L|ABCA13_uc003tos.1_Missense_Mutation_p.F497L NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 3671 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 TGAGTGCATTTTTCAGCCAAG 0.428 COBL 23242 broad.mit.edu 37 7 51097038 51097038 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:51097038C>T uc003tpr.3 - 10 1940 c.1755G>A c.(1753-1755)GAG>GAA p.E585E COBL_uc003tps.2_Silent_p.E642E|COBL_uc011kcl.1_Silent_p.E585E|COBL_uc003tpp.3_Silent_p.E371E|COBL_uc003tpq.3_Silent_p.E526E|COBL_uc003tpo.3_Silent_p.E127E NM_015198 NP_056013 O75128 COBL_HUMAN cordon-bleu homolog 585 skin(3)|ovary(2) 5 Glioma(55;0.08) GCTGGCTGTGCTCAGCTTGAA 0.547 AUTS2 26053 broad.mit.edu 37 7 70255840 70255840 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:70255840C>T uc003tvw.3 + 19 4381 c.3638C>T c.(3637-3639)CCG>CTG p.P1213L AUTS2_uc003tvx.3_Missense_Mutation_p.P1189L|AUTS2_uc011keg.1_Missense_Mutation_p.P665L NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 isoform 1 1213 ovary(2)|central_nervous_system(1) 3 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) AAGACCCCTCCGACAGCAGCG 0.677 TBL2 26608 broad.mit.edu 37 7 72985121 72985121 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:72985121T>C uc003tyh.2 - 7 1194 c.1060A>G c.(1060-1062)ATT>GTT p.I354V TBL2_uc011kex.1_Missense_Mutation_p.I318V|TBL2_uc010lbg.2_Missense_Mutation_p.I259V|TBL2_uc003tyi.2_Missense_Mutation_p.I189V|TBL2_uc011key.1_Missense_Mutation_p.I225V|TBL2_uc010lbh.2_Missense_Mutation_p.I259V NM_012453 NP_036585 Q9Y4P3 TBL2_HUMAN transducin (beta)-like 2 354 WD 6. 0 Lung NSC(55;0.0659)|all_lung(88;0.152) TAGAGATGAATACTACTGCCA 0.627 MLXIPL 51085 broad.mit.edu 37 7 73011554 73011554 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:73011554C>T uc003tyn.1 - 9 1609 c.1561G>A c.(1561-1563)GCG>ACG p.A521T MLXIPL_uc003tyj.1_5'UTR|MLXIPL_uc003tyk.1_Missense_Mutation_p.A521T|MLXIPL_uc003tyl.1_Missense_Mutation_p.A521T|MLXIPL_uc003tym.1_Missense_Mutation_p.A521T|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_Missense_Mutation_p.A428T|MLXIPL_uc003tyq.1_Missense_Mutation_p.A263T NM_032951 NP_116569 Q9NP71 WBS14_HUMAN Williams Beuren syndrome chromosome region 14 521 anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding pancreas(1) 1 Lung NSC(55;0.0659)|all_lung(88;0.152) TTGCTCCCCGCAGTGGTGGGG 0.687 GTF2I 2969 broad.mit.edu 37 7 74159243 74159243 + Missense_Mutation SNP G G A rs139477988 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:74159243G>A uc003uau.2 + 21 2267 c.1897G>A c.(1897-1899)GTC>ATC p.V633I GTF2I_uc003uav.2_Missense_Mutation_p.V612I|GTF2I_uc003uaw.2_Missense_Mutation_p.V613I|GTF2I_uc003uay.2_Missense_Mutation_p.V611I|GTF2I_uc003uax.2_Missense_Mutation_p.V592I NM_032999 NP_127492 P78347 GTF2I_HUMAN general transcription factor IIi isoform 1 633 GTF2I-like 4. negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 TGAAAGGATCGTCCGCGGGAG 0.418 POM121C 100101267 broad.mit.edu 37 7 75066870 75066870 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:75066870C>T uc010lde.1 - 5 1129 c.1129G>A c.(1129-1131)GCT>ACT p.A377T POM121C_uc003udk.3_Missense_Mutation_p.A135T A8CG34 P121C_HUMAN Homo sapiens POM121-2 mRNA for nuclear pore membrane protein 121-2, partial cds. 377 Required for targeting to the nucleus and nuclear pore complex.|Pore side (Potential).|Ser-rich. mRNA transport|protein transport|transmembrane transport endoplasmic reticulum membrane|nuclear membrane|nuclear pore protein binding 0 CTTGTGTAAGCGCCTGTCAAG 0.507 SRCRB4D 136853 broad.mit.edu 37 7 76029799 76029799 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:76029799G>A uc003ufb.2 - 4 627 c.279C>T c.(277-279)AAC>AAT p.N93N ZP3_uc003ufc.3_Intron NM_080744 NP_542782 Q8WTU2 SRB4D_HUMAN scavenger receptor cysteine rich domain 93 SRCR 1. extracellular region|membrane scavenger receptor activity pancreas(1) 1 GACACACTACGTTGGCGTCCA 0.697 PCLO 27445 broad.mit.edu 37 7 82390067 82390067 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:82390067G>T uc003uhx.2 - 24 15465 c.15176C>A c.(15175-15177)TCT>TAT p.S5059Y NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 4982 C2 2. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TTTTTGGGTAGAAATATTCAT 0.299 KIAA1324L 222223 broad.mit.edu 37 7 86522383 86522383 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:86522383A>G uc011kha.1 - 20 2904 c.2719T>C c.(2719-2721)TGC>CGC p.C907R KIAA1324L_uc003uif.1_Missense_Mutation_p.C667R|KIAA1324L_uc011kgz.1_Missense_Mutation_p.C793R|KIAA1324L_uc003uie.2_Missense_Mutation_p.C740R NM_001142749 NP_001136221 A8MWY0 K132L_HUMAN hypothetical protein LOC222223 isoform 1 907 Extracellular (Potential). integral to membrane ovary(6)|skin(1) 7 Esophageal squamous(14;0.0058) CCTTTAATGCACCATTTAGGT 0.398 FZD1 8321 broad.mit.edu 37 7 90894471 90894471 + Silent SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:90894471G>T uc003ula.2 + 1 689 c.276G>T c.(274-276)CCG>CCT p.P92P NM_003505 NP_003496 Q9UP38 FZD1_HUMAN frizzled 1 precursor 92 Poly-Pro.|Extracellular (Potential). autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding 0 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) CGCCGCCGCCGCCTCAGCAGC 0.517 MTERF 7978 broad.mit.edu 37 7 91503750 91503750 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:91503750C>T uc003ulb.1 - 2 402 c.358G>A c.(358-360)GTG>ATG p.V120M MTERF_uc010let.1_Intron|MTERF_uc003ulc.1_Missense_Mutation_p.V120M|MTERF_uc011khm.1_Missense_Mutation_p.V100M|MTERF_uc010leu.1_Missense_Mutation_p.V100M NM_006980 NP_008911 Q99551 MTERF_HUMAN mitochondrial transcription termination factor 120 DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription mitochondrial nucleoid double-stranded DNA binding 0 all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176) CTAGCGATCACTTCTTTGCTA 0.438 COL1A2 1278 broad.mit.edu 37 7 94054966 94054966 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:94054966C>T uc003ung.1 + 43 3297 c.2826C>T c.(2824-2826)CCC>CCT p.P942P COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 942 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) ATGGTCAACCCGGACACAAGG 0.488 HNSCC(75;0.22) DLX6 1750 broad.mit.edu 37 7 96639132 96639132 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:96639132C>T uc003uom.2 + 4 571 c.571C>T c.(571-573)CGC>TGC p.R191C DLX6AS_uc003uol.2_Intron|DLX6AS_uc010lfo.1_Intron NM_005222 NP_005213 P56179 DLX6_HUMAN distal-less homeobox 6 101 Homeobox. nervous system development|skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) TCAGAACAAACGCTCTAAGTT 0.527 TRRAP 8295 broad.mit.edu 37 7 98581030 98581030 + Silent SNP C C T rs148646770 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:98581030C>T uc003upp.2 + 59 9158 c.8949C>T c.(8947-8949)GAC>GAT p.D2983D TRRAP_uc011kis.1_Silent_p.D2965D|TRRAP_uc003upr.2_Silent_p.D2682D NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 2983 FAT. 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) TCGTGTCTGACGACTTGTCCC 0.408 ZSCAN21 7589 broad.mit.edu 37 7 99654966 99654966 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:99654966G>A uc003uso.2 + 2 481 c.337G>A c.(337-339)GCT>ACT p.A113T ZSCAN21_uc011kje.1_Missense_Mutation_p.A112T|ZSCAN21_uc003usn.1_Missense_Mutation_p.A112T NM_145914 NP_666019 Q9Y5A6 ZSC21_HUMAN zinc finger protein 38 113 SCAN box. positive regulation of transcription, DNA-dependent|viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) CCCGGAGAGCGCTGAAGAGGC 0.592 C7orf51 222950 broad.mit.edu 37 7 100087129 100087129 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:100087129C>T uc003uvd.1 + 4 1944 c.1785C>T c.(1783-1785)ACC>ACT p.T595T C7orf51_uc003uve.1_Silent_p.T377T NM_173564 NP_775835 Q6ZVC0 CG051_HUMAN hypothetical protein FLJ37538 595 skin(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AGCAAGGGACCGATGGGGGTG 0.637 TFR2 7036 broad.mit.edu 37 7 100218519 100218519 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:100218519C>T uc003uvv.1 - 18 2408 c.2367G>A c.(2365-2367)GCG>GCA p.A789A TFR2_uc010lhc.1_Silent_p.A330A|TFR2_uc003uvu.1_Silent_p.A618A NM_003227 NP_003218 Q9UP52 TFR2_HUMAN transferrin receptor 2 789 Extracellular (Potential). cellular iron ion homeostasis|iron ion transport|proteolysis cytoplasm|integral to plasma membrane peptidase activity|transferrin receptor activity ovary(1)|pancreas(1) 2 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) CCCCGCTAAGCGCATTGGCTG 0.632 TFR2 7036 broad.mit.edu 37 7 100226903 100226903 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:100226903G>A uc003uvv.1 - 10 1404 c.1363C>T c.(1363-1365)CGG>TGG p.R455W TFR2_uc010lhc.1_5'UTR|TFR2_uc003uvu.1_Missense_Mutation_p.R284W NM_003227 NP_003218 Q9UP52 TFR2_HUMAN transferrin receptor 2 455 Extracellular (Potential). cellular iron ion homeostasis|iron ion transport|proteolysis cytoplasm|integral to plasma membrane peptidase activity|transferrin receptor activity ovary(1)|pancreas(1) 2 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) GAAAAGGTCCGCACCAGCTCC 0.622 TRIP6 7205 broad.mit.edu 37 7 100468258 100468258 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:100468258C>T uc003uww.2 + 6 1062 c.892C>T c.(892-894)CGC>TGC p.R298C TRIP6_uc010lhk.1_RNA NM_003302 NP_003293 Q15654 TRIP6_HUMAN thyroid receptor-interacting protein 6 298 LIM zinc-binding 1. focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent cytoplasm|cytoskeleton|focal adhesion|nucleus identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding central_nervous_system(2) 2 Lung NSC(181;0.041)|all_lung(186;0.0581) GGCCCTTGATCGCGTCTTTCA 0.597 PIK3CG 5294 broad.mit.edu 37 7 106508373 106508373 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:106508373C>T uc003vdv.3 + 2 452 c.367C>T c.(367-369)CGC>TGC p.R123C PIK3CG_uc003vdu.2_Missense_Mutation_p.R123C|PIK3CG_uc003vdw.2_Missense_Mutation_p.R123C NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 123 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 GGACTGCCTGCGCTACTGGAA 0.652 PIK3CG 5294 broad.mit.edu 37 7 106523539 106523539 + Silent SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:106523539C>A uc003vdv.3 + 8 2776 c.2691C>A c.(2689-2691)GGC>GGA p.G897G PIK3CG_uc003vdu.2_Silent_p.G897G|PIK3CG_uc003vdw.2_Silent_p.G897G NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 897 PI3K/PI4K. G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 GCACAGTGGGCAACACGGGAG 0.463 COG5 10466 broad.mit.edu 37 7 107198538 107198538 + Silent SNP G G A rs138518242 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:107198538G>A uc003ved.2 - 2 735 c.210C>T c.(208-210)AAC>AAT p.N70N COG5_uc003vec.2_Silent_p.N70N|COG5_uc003vee.2_Silent_p.N70N NM_181733 NP_859422 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 isoform 70 intra-Golgi vesicle-mediated transport|protein transport cytosol|Golgi membrane|Golgi transport complex|nucleus protein binding central_nervous_system(2)|skin(2) 4 CAAAGTCTTCGTTTAAAAAGT 0.338 DOCK4 9732 broad.mit.edu 37 7 111377033 111377033 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:111377033T>C uc003vfx.2 - 49 5487 c.5218A>G c.(5218-5220)AAT>GAT p.N1740D DOCK4_uc011kml.1_Missense_Mutation_p.N621D|DOCK4_uc011kmm.1_Missense_Mutation_p.N647D|DOCK4_uc003vfw.2_Missense_Mutation_p.N1190D|DOCK4_uc003vfy.2_Missense_Mutation_p.N1785D|DOCK4_uc003vfv.2_Missense_Mutation_p.N53D NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1740 Ser-rich. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) CCAATATGATTAAACAGCATC 0.453 FOXP2 93986 broad.mit.edu 37 7 114284763 114284763 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:114284763C>T uc003vhb.2 + 8 1387 c.1013C>T c.(1012-1014)GCC>GTC p.A338V FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.A363V|FOXP2_uc003vha.2_Missense_Mutation_p.A246V|FOXP2_uc011kmu.1_Missense_Mutation_p.A355V|FOXP2_uc011kmv.1_Missense_Mutation_p.A337V|FOXP2_uc010ljz.1_Missense_Mutation_p.A246V|FOXP2_uc003vgx.2_Missense_Mutation_p.A338V|FOXP2_uc003vhd.2_Missense_Mutation_p.A338V|FOXP2_uc003vhc.2_Missense_Mutation_p.A363V NM_014491 NP_055306 O15409 FOXP2_HUMAN forkhead box P2 isoform I 338 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 GAGACTGGGGCCTCTCACACT 0.438 ZNF800 168850 broad.mit.edu 37 7 127014061 127014061 + Silent SNP T T C rs17868513 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:127014061T>C uc003vlx.1 - 5 1592 c.1329A>G c.(1327-1329)ACA>ACG p.T443T ZNF800_uc003vlw.1_Silent_p.T346T|ZNF800_uc003vly.1_Silent_p.T443T|ZNF800_uc010lla.2_Silent_p.T443T NM_176814 NP_789784 Q2TB10 ZN800_HUMAN zinc finger protein 800 443 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GTGCTGCCGGTGTGTTCTTTT 0.408 LRRC4 64101 broad.mit.edu 37 7 127669841 127669841 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:127669841G>T uc003vmk.2 - 2 990 c.853C>A c.(853-855)CTC>ATC p.L285I SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron NM_022143 NP_071426 Q9HBW1 LRRC4_HUMAN leucine rich repeat containing 4 precursor 285 LRR 9.|Extracellular (Potential). cell junction|integral to membrane|postsynaptic membrane large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1) 4 Lung(243;0.124) GGGGTAAAGAGGTCATGGGGC 0.522 SND1 27044 broad.mit.edu 37 7 127732057 127732057 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:127732057C>T uc003vmi.2 + 24 2906 c.2680C>T c.(2680-2682)CGC>TGC p.R894C SND1_uc010lle.2_Missense_Mutation_p.R547C NM_014390 NP_055205 Q7KZF4 SND1_HUMAN staphylococcal nuclease domain containing 1 894 gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent melanosome|nucleus|RNA-induced silencing complex nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity ovary(2)|central_nervous_system(1) 3 GAACCTGTGGCGCTATGGAGA 0.572 FLNC 2318 broad.mit.edu 37 7 128475506 128475506 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:128475506C>T uc003vnz.3 + 2 688 c.479C>T c.(478-480)ACG>ATG p.T160M FLNC_uc003voa.3_Missense_Mutation_p.T160M NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 160 CH 2.|Actin-binding. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 CGCAAACAGACGCCCAAGCAG 0.597 NRF1 4899 broad.mit.edu 37 7 129394908 129394908 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:129394908G>A uc003voz.2 + 11 1516 c.1399G>A c.(1399-1401)GCC>ACC p.A467T NRF1_uc003vpa.2_Missense_Mutation_p.A486T|NRF1_uc011kpa.1_Missense_Mutation_p.A306T|NRF1_uc003vpb.2_Missense_Mutation_p.A467T NM_005011 NP_005002 Q16656 NRF1_HUMAN nuclear respiratory factor 1 467 Required for transcriptional activation. generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 GACCAGCCTCGCCCAGGGCAA 0.612 CPA5 93979 broad.mit.edu 37 7 129986353 129986353 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:129986353G>A uc010lmd.1 + 4 647 c.27G>A c.(25-27)ACG>ACA p.T9T CPA5_uc003vps.2_Silent_p.T9T|CPA5_uc003vpt.2_Silent_p.T9T|CPA5_uc010lme.1_Silent_p.T9T|CPA5_uc003vpu.1_Silent_p.T9T NM_001127441 NP_001120913 Q8WXQ8 CBPA5_HUMAN carboxypeptidase A5 isoform 1 9 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 Melanoma(18;0.0435) GAGGCGGGACGCGCCCTGGGC 0.627 PLXNA4 91584 broad.mit.edu 37 7 131864546 131864546 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:131864546A>G uc003vra.3 - 20 4003 c.3774T>C c.(3772-3774)ATT>ATC p.I1258I NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1258 Helical; (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 GTTTATAGGCAATGAGCACGG 0.607 WDR91 29062 broad.mit.edu 37 7 134871064 134871064 + Missense_Mutation SNP C C T rs141164229 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:134871064C>T uc003vsp.2 - 15 2145 c.2083G>A c.(2083-2085)GGT>AGT p.G695S WDR91_uc010lmq.2_Missense_Mutation_p.G284S|WDR91_uc010lmr.2_RNA NM_014149 NP_054868 A4D1P6 WDR91_HUMAN WD repeat domain 91 695 WD 6. breast(2)|ovary(1)|skin(1) 4 TCATCGCCACCCAGCTGCAAG 0.587 NUP205 23165 broad.mit.edu 37 7 135277854 135277854 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:135277854C>T uc003vsw.2 + 12 1775 c.1744C>T c.(1744-1746)CGT>TGT p.R582C NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 582 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 TGTCCAGTACCGTCACCTTCC 0.483 DGKI 9162 broad.mit.edu 37 7 137237203 137237203 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:137237203C>A uc003vtt.2 - 20 2060 c.2059G>T c.(2059-2061)GCC>TCC p.A687S DGKI_uc003vtu.2_Missense_Mutation_p.A387S NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 687 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 ATAGCTGGGGCCAACCTACAG 0.517 KIAA1549 57670 broad.mit.edu 37 7 138554434 138554434 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:138554434C>T uc011kql.1 - 14 4674 c.4625G>A c.(4624-4626)CGC>CAC p.R1542H KIAA1549_uc011kqi.1_Missense_Mutation_p.R326H|KIAA1549_uc003vuk.3_Missense_Mutation_p.R1492H|KIAA1549_uc011kqj.1_Missense_Mutation_p.R1542H|KIAA1549_uc011kqk.1_Missense_Mutation_p.R326H NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 1542 integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 GTAGTGCCCGCGGCGCTTGGC 0.617 O BRAF pilocytic astrocytoma KIAA1549 57670 broad.mit.edu 37 7 138602725 138602725 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:138602725C>T uc011kql.1 - 2 1696 c.1647G>A c.(1645-1647)ACG>ACA p.T549T KIAA1549_uc003vuk.3_Silent_p.T499T|KIAA1549_uc011kqj.1_Silent_p.T549T NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 549 Ser-rich. integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 CGCTGGATGGCGTCACTTGGG 0.542 O BRAF pilocytic astrocytoma UBN2 254048 broad.mit.edu 37 7 138968777 138968777 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:138968777T>C uc011kqr.1 + 15 3126 c.3126T>C c.(3124-3126)TCT>TCC p.S1042S NM_173569 NP_775840 Q6ZU65 UBN2_HUMAN ubinuclein 2 1042 Ser-rich. ovary(1)|skin(1) 2 TTGCCGCATCTCCCAAGCCTG 0.527 MKRN1 23608 broad.mit.edu 37 7 140158906 140158906 + Silent SNP G G A rs1062761 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:140158906G>A uc003vvt.2 - 4 897 c.672C>T c.(670-672)TAC>TAT p.Y224Y MKRN1_uc003vvs.2_Silent_p.Y160Y|MKRN1_uc011krd.1_Intron|MKRN1_uc003vvv.3_Silent_p.Y224Y|MKRN1_uc003vvu.3_Silent_p.Y160Y NM_013446 NP_038474 Q9UHC7 MKRN1_HUMAN makorin ring finger protein 1 isoform 1 224 C3H1-type 3. ligase activity|nucleic acid binding|protein binding|zinc ion binding ovary(1) 1 Melanoma(164;0.00956) AGTTCTCCCCGTATCGGCACT 0.542 DENND2A 27147 broad.mit.edu 37 7 140273680 140273680 + Silent SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:140273680G>T uc010lnj.2 - 4 1519 c.1374C>A c.(1372-1374)CCC>CCA p.P458P DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Silent_p.P458P|DENND2A_uc003vvw.2_Silent_p.P458P|DENND2A_uc003vvx.2_Silent_p.P458P NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 458 ovary(3)|breast(1) 4 Melanoma(164;0.00956) CAGGGCTGCTGGGAGTGGAGG 0.507 CLCN1 1180 broad.mit.edu 37 7 143039045 143039045 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:143039045G>A uc003wcr.1 + 15 1693 c.1606G>A c.(1606-1608)GTT>ATT p.V536I CLCN1_uc011ktc.1_Missense_Mutation_p.V148I NM_000083 NP_000074 P35523 CLCN1_HUMAN chloride channel 1, skeletal muscle 536 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Melanoma(164;0.205) GACTGGTGCCGTTTCCCACAC 0.517 CNTNAP2 26047 broad.mit.edu 37 7 147914604 147914604 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:147914604G>A uc003weu.1 + 19 3751 c.3235G>A c.(3235-3237)GTC>ATC p.V1079I NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 1079 Laminin G-like 4.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GGCAGTCCTCGTCAAACCCAC 0.507 HNSCC(39;0.1) ZNF282 8427 broad.mit.edu 37 7 148921287 148921287 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:148921287G>A uc003wfm.2 + 8 1669 c.1564G>A c.(1564-1566)GAG>AAG p.E522K ZNF282_uc011kun.1_Intron|ZNF282_uc003wfo.2_Silent_p.P198P NM_003575 NP_003566 Q9UDV7 ZN282_HUMAN zinc finger protein 282 522 C2H2-type 1. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) Lung(243;0.145) CTCGTGCCCCGAGTGCGGCAA 0.582 ZNF212 7988 broad.mit.edu 37 7 148947336 148947336 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:148947336C>T uc003wfp.2 + 2 207 c.111C>T c.(109-111)ACC>ACT p.T37T NM_012256 NP_036388 Q9UDV6 ZN212_HUMAN zinc finger protein 212 37 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding ovary(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) TTCAGACCACCGAGATTTCAC 0.537 ZNF212 7988 broad.mit.edu 37 7 148951367 148951367 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:148951367C>T uc003wfp.2 + 5 1445 c.1349C>T c.(1348-1350)ACG>ATG p.T450M NM_012256 NP_036388 Q9UDV6 ZN212_HUMAN zinc finger protein 212 450 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding ovary(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) CGCATCCACACGGGTGAGCGG 0.597 KRBA1 84626 broad.mit.edu 37 7 149420936 149420936 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:149420936G>A uc003wfz.2 + 8 1283 c.884G>A c.(883-885)CGA>CAA p.R295Q KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_5'UTR NM_032534 NP_115923 A5PL33 KRBA1_HUMAN KRAB A domain containing 1 295 ovary(1)|central_nervous_system(1) 2 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GTGGGGAACCGACGGCTACAG 0.622 SSPO 23145 broad.mit.edu 37 7 149522374 149522374 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:149522374C>T uc010lpk.2 + 101 14001 c.14001C>T c.(13999-14001)TGC>TGT p.C4667C SSPO_uc010lpm.1_RNA|SSPO_uc003wgg.2_RNA|SSPO_uc003wgh.2_RNA|SSPO_uc003wgi.1_RNA NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 4667 TIL 6. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GTTAGAGCTGCGAGGCCCAAG 0.627 CHPF2 54480 broad.mit.edu 37 7 150934480 150934480 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:150934480C>T uc003wjr.1 + 4 2545 c.1032C>T c.(1030-1032)ACC>ACT p.T344T CHPF2_uc003wjq.1_Silent_p.T336T|MIR671_hsa-mir-671|MI0003760_5'Flank NM_019015 NP_061888 Q9P2E5 CHPF2_HUMAN chondroitin polymerizing factor 2 344 Lumenal (Potential). Golgi cisterna membrane|integral to membrane N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity ovary(1) 1 GGAACCTGACCGTGCTGACCC 0.567 CRYGN 155051 broad.mit.edu 37 7 151135154 151135154 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:151135154G>A uc003wke.2 - 2 294 c.198C>T c.(196-198)CAC>CAT p.H66H CRYGN_uc003wkf.2_Silent_p.H66H|CRYGN_uc003wkg.2_RNA|CRYGN_uc010lqd.1_5'Flank NM_144727 NP_653328 Q8WXF5 CRGN_HUMAN gammaN-crystallin 66 Beta/gamma crystallin 'Greek key' 2. 0 OV - Ovarian serous cystadenocarcinoma(82;0.00358) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGTAGTCGCCGTGCTCCAAGA 0.612 GALNT11 63917 broad.mit.edu 37 7 151818747 151818747 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:151818747G>A uc010lqg.1 + 12 2042 c.1812G>A c.(1810-1812)TGG>TGA p.W604* GALNT11_uc011kvm.1_Nonsense_Mutation_p.W523*|GALNT11_uc003wku.2_Nonsense_Mutation_p.W604* NM_022087 NP_071370 Q8NCW6 GLT11_HUMAN N-acetylgalactosaminyltransferase 11 604 Lumenal (Potential).|Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding 0 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.214) OV - Ovarian serous cystadenocarcinoma(82;0.00168) UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932) CACAGCAGTGGCATTTGGAAG 0.582 ZNF596 169270 broad.mit.edu 37 8 192901 192901 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:192901C>T uc003wot.2 + 3 315 c.27C>T c.(25-27)TTC>TTT p.F9F ZNF596_uc003wou.2_5'UTR|ZNF596_uc003wov.2_Silent_p.F9F|ZNF596_uc003wow.2_Silent_p.F9F NM_173539 NP_775810 Q8TC21 ZN596_HUMAN zinc finger protein 596 9 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242) Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702) CCATGACCTTCGAGGATATCA 0.438 FBXO25 26260 broad.mit.edu 37 8 400034 400034 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:400034C>T uc003wox.2 + 6 692 c.426C>T c.(424-426)GGC>GGT p.G142G FBXO25_uc003woy.2_Silent_p.G142G|FBXO25_uc003woz.2_Silent_p.G75G|FBXO25_uc003wpa.2_5'UTR NM_183421 NP_904357 Q8TCJ0 FBX25_HUMAN F-box only protein 25 isoform 1 142 nucleus|SCF ubiquitin ligase complex actin binding|ubiquitin-protein ligase activity lung(1) 1 Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122) Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06) CATTGAGTGGCGTGGCACAGA 0.318 CSMD1 64478 broad.mit.edu 37 8 2857580 2857580 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:2857580C>T uc011kwk.1 - 53 8496 c.8106G>A c.(8104-8106)ACG>ACA p.T2702T CSMD1_uc011kwj.1_Silent_p.T2031T|CSMD1_uc010lrg.2_Silent_p.T712T NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2702 Extracellular (Potential).|Sushi 18. 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) GGTAAACCACCGTGTCTCTGT 0.493 SGK223 157285 broad.mit.edu 37 8 8176553 8176553 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:8176553G>A uc003wsh.3 - 5 3332 c.3332C>T c.(3331-3333)GCG>GTG p.A1111V NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN pragmin 1111 Protein kinase. A -> T. ATP binding|non-membrane spanning protein tyrosine kinase activity 0 CTCGGGCTCCGCCTGGTGGCT 0.682 SGK223 157285 broad.mit.edu 37 8 8233918 8233918 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:8233918C>T uc003wsh.3 - 2 2001 c.2001G>A c.(1999-2001)ACG>ACA p.T667T NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN pragmin 667 ATP binding|non-membrane spanning protein tyrosine kinase activity 0 GGTGCCAGGTCGTGGAGTTTG 0.562 MFHAS1 9258 broad.mit.edu 37 8 8747883 8747883 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:8747883C>T uc003wsj.1 - 1 3249 c.2686G>A c.(2686-2688)GCA>ACA p.A896T NM_004225 NP_004216 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified 896 0 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) CTGTAGCGTGCAAACAACCCA 0.458 XKR6 286046 broad.mit.edu 37 8 11058385 11058385 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:11058385C>T uc003wtk.1 - 1 491 c.464G>A c.(463-465)CGC>CAC p.R155H NM_173683 NP_775954 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related 155 integral to membrane ovary(1)|skin(1) 2 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) GTCCCCCTTGCGGTAGTAGTC 0.652 MTMR9 66036 broad.mit.edu 37 8 11157593 11157593 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:11157593A>G uc003wtm.2 + 3 751 c.353A>G c.(352-354)GAA>GGA p.E118G MTMR9_uc010lrx.2_Missense_Mutation_p.E11G|MTMR9_uc011kxa.1_Missense_Mutation_p.E33G NM_015458 NP_056273 Q96QG7 MTMR9_HUMAN myotubularin related protein 9 118 cytoplasm phosphatase activity|protein binding 0 STAD - Stomach adenocarcinoma(15;0.215) COAD - Colon adenocarcinoma(149;0.0678) CCTATGTTTGAAGTGATAGAA 0.403 MTMR9 66036 broad.mit.edu 37 8 11172485 11172485 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:11172485A>G uc003wtm.2 + 7 1423 c.1025A>G c.(1024-1026)CAG>CGG p.Q342R MTMR9_uc010lrx.2_Missense_Mutation_p.Q235R|MTMR9_uc011kxa.1_Missense_Mutation_p.Q257R NM_015458 NP_056273 Q96QG7 MTMR9_HUMAN myotubularin related protein 9 342 Myotubularin phosphatase. cytoplasm phosphatase activity|protein binding 0 STAD - Stomach adenocarcinoma(15;0.215) COAD - Colon adenocarcinoma(149;0.0678) TCCACACTCCAGGTGACCTCC 0.478 FAM167A 83648 broad.mit.edu 37 8 11301555 11301555 + Nonsense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:11301555C>T uc010lry.1 - 2 986 c.366G>A c.(364-366)TGG>TGA p.W122* FAM167A_uc003wtw.2_Nonsense_Mutation_p.W122* NM_053279 NP_444509 Q96KS9 F167A_HUMAN hypothetical protein LOC83648 122 Potential. 0 CCTTCCTGAGCCAGGCTATAG 0.488 GATA4 2626 broad.mit.edu 37 8 11615981 11615981 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:11615981G>A uc003wuc.2 + 7 1880 c.1326G>A c.(1324-1326)GCG>GCA p.A442A GATA4_uc003wub.1_Silent_p.A236A|GATA4_uc011kxc.1_Silent_p.A443A|uc003wud.1_5'Flank NM_002052 NP_002043 P43694 GATA4_HUMAN GATA binding protein 4 442 atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development nucleoplasm activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1) 1 all_epithelial(15;0.0839) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.199) TAATCACTGCGTAATCTTCCC 0.602 HR 55806 broad.mit.edu 37 8 21985180 21985180 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:21985180G>A uc003xas.2 - 3 1440 c.775C>T c.(775-777)CGG>TGG p.R259W HR_uc003xat.2_Missense_Mutation_p.R259W NM_005144 NP_005135 O43593 HAIR_HUMAN hairless protein isoform a 259 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1) 2 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) TTCTGCTGCCGGCCAGCTCCC 0.627 NKX3-1 4824 broad.mit.edu 37 8 23538896 23538896 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:23538896T>C uc011kzx.1 - 2 591 c.543A>G c.(541-543)CGA>CGG p.R181R NKX3-1_uc003xdv.1_Intron NM_006167 NP_006158 Q99801 NKX31_HUMAN NK3 homeobox 1 181 Homeobox. negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter nucleus estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding 0 Prostate(55;0.114) Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708) AGAGCTGCTTTCGCTTAGTCT 0.582 ADAMDEC1 27299 broad.mit.edu 37 8 24256965 24256965 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:24256965C>A uc003xdz.2 + 10 1209 c.989C>A c.(988-990)CCA>CAA p.P330Q ADAMDEC1_uc010lub.2_Missense_Mutation_p.P251Q|ADAMDEC1_uc011lab.1_Missense_Mutation_p.P251Q NM_014479 NP_055294 O15204 ADEC1_HUMAN ADAM-like, decysin 1 isoform 1 330 Peptidase M12B. integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding skin(2) 2 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) TTGTGTTCCCCATCTTCGGTT 0.333 NEFM 4741 broad.mit.edu 37 8 24771893 24771893 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:24771893G>A uc003xed.3 + 1 620 c.587G>A c.(586-588)CGC>CAC p.R196H NEFM_uc011lac.1_Missense_Mutation_p.R196H|NEFM_uc010lue.2_5'Flank|uc010luc.1_Missense_Mutation_p.R59C NM_005382 NP_005373 P07197 NFM_HUMAN neurofilament, medium polypeptide 150kDa isoform 196 Rod.|Coil 1B. neurofilament protein binding|structural constituent of cytoskeleton breast(1) 1 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) GCGCGGTTGCGCGACGACACT 0.632 DOCK5 80005 broad.mit.edu 37 8 25246735 25246735 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:25246735G>A uc003xeg.2 + 41 4397 c.4260G>A c.(4258-4260)TCG>TCA p.S1420S PPP2R2A_uc003xek.2_Silent_p.S209S|DOCK5_uc003xei.2_Silent_p.S990S|DOCK5_uc003xej.2_RNA NM_024940 NP_079216 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 1420 DHR-2. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3) 3 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) ACATCAAGTCGTCCCCCAAGC 0.567 PNMA2 10687 broad.mit.edu 37 8 26365705 26365705 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:26365705C>T uc003xez.2 - 3 1337 c.567G>A c.(565-567)ACG>ACA p.T189T NM_007257 NP_009188 Q9UL42 PNMA2_HUMAN paraneoplastic antigen MA2 189 apoptosis nucleolus protein binding 0 all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105) UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123) tgactatctccgtggcctgtt 0 PTK2B 2185 broad.mit.edu 37 8 27297938 27297938 + Silent SNP C C T rs149334019 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:27297938C>T uc003xfn.1 + 26 2827 c.2019C>T c.(2017-2019)ACC>ACT p.T673T PTK2B_uc003xfo.1_Silent_p.T673T|PTK2B_uc003xfp.1_Silent_p.T673T|PTK2B_uc003xfq.1_Silent_p.T673T|PTK2B_uc003xfr.1_Silent_p.T419T NM_173174 NP_775266 Q14289 FAK2_HUMAN PTK2B protein tyrosine kinase 2 beta isoform a 673 Protein kinase. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity lung(3)|ovary(1)|skin(1) 5 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) CCCGCTTCACCGAGCTGGTGT 0.647 CCDC25 55246 broad.mit.edu 37 8 27606032 27606032 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:27606032C>A uc003xgc.2 - 6 441 c.328G>T c.(328-330)GGC>TGC p.G110C CCDC25_uc003xgd.2_Missense_Mutation_p.G42C|CCDC25_uc011lan.1_Intron|CCDC25_uc011lao.1_Intron|CCDC25_uc003xge.2_Intron|CCDC25_uc003xgf.1_RNA NM_018246 NP_060716 Q86WR0 CCD25_HUMAN coiled-coil domain containing 25 110 0 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154) CTGTGAAAGCCTATCTGCCCC 0.473 EXTL3 2137 broad.mit.edu 37 8 28574843 28574843 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:28574843G>A uc003xgz.1 + 3 1860 c.1267G>A c.(1267-1269)GAA>AAA p.E423K NM_001440 NP_001431 O43909 EXTL3_HUMAN exostoses-like 3 423 Lumenal (Potential). integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding skin(2) 2 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) GGACCGCTTGGAATTGCTGAA 0.587 DUSP4 1846 broad.mit.edu 37 8 29195944 29195944 + Silent SNP G G A rs111661543 byFrequency TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:29195944G>A uc003xhm.2 - 3 1044 c.654C>T c.(652-654)GAC>GAT p.D218D DUSP4_uc003xhl.2_Silent_p.D127D NM_001394 NP_001385 Q13115 DUS4_HUMAN dual specificity phosphatase 4 isoform 1 218 Tyrosine-protein phosphatase. endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity lung(1) 1 KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113) TGCCCAGGGCGTCCAGCATGT 0.562 WRN 7486 broad.mit.edu 37 8 30999110 30999110 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:30999110G>A uc003xio.3 + 25 3920 c.3132G>A c.(3130-3132)ACG>ACA p.T1044T WRN_uc010lvk.2_Silent_p.T511T NM_000553 NP_000544 Q14191 WRN_HUMAN Werner syndrome protein 1044 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 7 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) GCGCCCTTACGAAAAAGGTAA 0.403 Mis|N|F|S osteosarcoma|meningioma|others Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Werner_syndrome GPR124 25960 broad.mit.edu 37 8 37689008 37689008 + Nonsense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:37689008C>T uc003xkj.2 + 8 1363 c.1000C>T c.(1000-1002)CAA>TAA p.Q334* GPR124_uc010lvy.2_Nonsense_Mutation_p.Q334* NM_032777 NP_116166 Q96PE1 GP124_HUMAN G protein-coupled receptor 124 precursor 334 Extracellular (Potential).|Ig-like. central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity large_intestine(2)|ovary(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) GTCCATGGCCCAAGGCAACGC 0.647 BRF2 55290 broad.mit.edu 37 8 37702376 37702376 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:37702376C>T uc003xkk.2 - 4 1002 c.892G>A c.(892-894)GGT>AGT p.G298S NM_018310 NP_060780 Q9HAW0 BRF2_HUMAN RNA polymerase III transcription initiation 298 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent nucleoplasm protein binding|zinc ion binding 0 Lung NSC(58;0.118)|all_lung(54;0.195) BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10) AGAAGGTCACCGATGTGCTTC 0.622 BAG4 9530 broad.mit.edu 37 8 38066655 38066655 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:38066655G>A uc003xky.1 + 4 1040 c.758G>A c.(757-759)GGC>GAC p.G253D BAG4_uc003xkz.1_Missense_Mutation_p.G217D NM_004874 NP_004865 O95429 BAG4_HUMAN BCL2-associated athanogene 4 253 anti-apoptosis|apoptosis|protein folding cytoplasm|nucleus receptor signaling protein activity ovary(1) 1 Colorectal(12;0.000442) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121) GGAATGGGTGGCCGTTATCCC 0.532 HTRA4 203100 broad.mit.edu 37 8 38835575 38835575 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:38835575C>T uc003xmj.2 + 4 990 c.875C>T c.(874-876)GCA>GTA p.A292V NM_153692 NP_710159 P83105 HTRA4_HUMAN HtrA serine peptidase 4 precursor 292 Serine protease. proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity 0 all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955) LUSC - Lung squamous cell carcinoma(45;1.5e-07) ACAGCTACTGCAGGAATTGTC 0.493 IKBKB 3551 broad.mit.edu 37 8 42176093 42176093 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:42176093G>A uc003xow.1 + 13 1441 c.1264G>A c.(1264-1266)GCC>ACC p.A422T IKBKB_uc010lxh.1_Missense_Mutation_p.A317T|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Missense_Mutation_p.A199T|IKBKB_uc003xox.1_Missense_Mutation_p.A143T|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Missense_Mutation_p.A420T|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Missense_Mutation_p.A363T NM_001556 NP_001547 O14920 IKKB_HUMAN inhibitor of nuclear factor kappa B kinase beta 422 anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(3)|ovary(2)|lung(1)|skin(1) 7 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) GAGGAATCTCGCCTTCTTCCA 0.522 HOOK3 84376 broad.mit.edu 37 8 42828458 42828458 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:42828458C>T uc003xpr.2 + 12 1391 c.1149C>T c.(1147-1149)TCC>TCT p.S383S HOOK3_uc010lxq.1_Silent_p.S383S NM_032410 NP_115786 Q86VS8 HOOK3_HUMAN golgi-associated microtubule-binding protein 383 Potential. cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport cis-Golgi network|FHF complex|microtubule|pericentriolar material identical protein binding|microtubule binding ovary(1)|breast(1) 2 Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114) ACAGATTATCCGAAGAATCAA 0.294 T RET papillary thyroid MCM4 4173 broad.mit.edu 37 8 48887498 48887498 + Missense_Mutation SNP G G A rs140026188 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:48887498G>A uc003xqk.1 + 15 2436 c.2341G>A c.(2341-2343)GTG>ATG p.V781M MCM4_uc003xql.1_Missense_Mutation_p.V781M|MCM4_uc011ldi.1_Missense_Mutation_p.V768M NM_182746 NP_877423 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 781 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding ovary(2)|skin(2) 4 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) GACTGGCATCGTGGACATATC 0.403 PXDNL 137902 broad.mit.edu 37 8 52321164 52321164 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:52321164G>A uc003xqu.3 - 17 3121 c.3020C>T c.(3019-3021)GCG>GTG p.A1007V PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 1007 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CTGCAGCTCCGCGCCCACGAT 0.622 SOX17 64321 broad.mit.edu 37 8 55370898 55370898 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:55370898G>A uc003xsb.3 + 1 404 c.200G>A c.(199-201)CGT>CAT p.R67H NM_022454 NP_071899 Q9H6I2 SOX17_HUMAN SRY-box 17 67 angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway transcription factor complex beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding lung(1) 1 Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159) GGCGAGTCCCGTATCCGGCGG 0.682 XKR4 114786 broad.mit.edu 37 8 56015724 56015724 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:56015724G>A uc003xsf.2 + 1 708 c.676G>A c.(676-678)GCG>ACG p.A226T NM_052898 NP_443130 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related 226 integral to membrane pancreas(2) 2 Epithelial(17;0.000117)|all cancers(17;0.000836) CAACATCGCCGCGGCCAACAG 0.652 PDE7A 5150 broad.mit.edu 37 8 66639133 66639133 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:66639133G>T uc003xvq.2 - 9 909 c.897C>A c.(895-897)TTC>TTA p.F299L PDE7A_uc003xvr.2_Missense_Mutation_p.F299L|PDE7A_uc003xvp.2_Missense_Mutation_p.F273L NM_002604 NP_002595 Q13946 PDE7A_HUMAN phosphodiesterase 7A isoform b 299 Catalytic (By similarity). cell fraction|cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding 0 Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238) Dyphylline(DB00651)|Ketotifen(DB00920) GCAGATGTGAGAATAAGCCTG 0.348 ADHFE1 137872 broad.mit.edu 37 8 67361171 67361171 + Nonsense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:67361171C>T uc003xwb.3 + 8 734 c.700C>T c.(700-702)CGA>TGA p.R234* ADHFE1_uc003xwd.3_RNA|ADHFE1_uc003xwc.3_Nonsense_Mutation_p.R186*|ADHFE1_uc003xwe.3_RNA|ADHFE1_uc003xwf.3_RNA|ADHFE1_uc011les.1_Nonsense_Mutation_p.R164*|ADHFE1_uc011leq.1_RNA|ADHFE1_uc011ler.1_RNA NM_144650 NP_653251 Q8IWW8 HOT_HUMAN alcohol dehydrogenase, iron containing, 1 234 2-oxoglutarate metabolic process|molecular hydrogen transport mitochondrial matrix hydroxyacid-oxoacid transhydrogenase activity|metal ion binding ovary(1)|lung(1)|breast(1)|skin(1) 4 Lung NSC(129;0.197) Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226) CATGCCTGCCCGAGTGGTCGC 0.498 C8orf46 254778 broad.mit.edu 37 8 67405939 67405939 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:67405939T>C uc003xwg.2 + 1 449 c.56T>C c.(55-57)GTG>GCG p.V19A C8orf46_uc003xwh.2_RNA|C8orf46_uc011let.1_Missense_Mutation_p.V19A NM_152765 NP_689978 Q8TAG6 CH046_HUMAN hypothetical protein LOC254778 19 skin(2) 2 Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226) TTCACCACCGTGATTCCTTCC 0.507 C8orf45 157777 broad.mit.edu 37 8 67803139 67803139 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:67803139A>G uc003xwz.3 + 10 1284 c.1113A>G c.(1111-1113)ATA>ATG p.I371M C8orf45_uc011lev.1_Missense_Mutation_p.I371M|C8orf45_uc011lew.1_Missense_Mutation_p.I302M|C8orf45_uc011lex.1_Missense_Mutation_p.I129M|C8orf45_uc003xwy.3_Missense_Mutation_p.I371M NM_173518 NP_775789 Q4G0Z9 CH045_HUMAN minichromosome maintenance complex 371 DNA replication ATP binding|DNA binding ovary(1) 1 Breast(64;0.186) Epithelial(68;0.00384)|OV - Ovarian serous cystadenocarcinoma(28;0.00913)|all cancers(69;0.0175)|BRCA - Breast invasive adenocarcinoma(89;0.206) CCCGTGGTATACGTCATCTAG 0.363 CSPP1 79848 broad.mit.edu 37 8 67998286 67998286 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:67998286C>T uc003xxi.2 + 4 383 c.352C>T c.(352-354)CGG>TGG p.R118W CSPP1_uc003xxg.1_Missense_Mutation_p.R118W|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.R118W|CSPP1_uc003xxk.2_Translation_Start_Site NM_001077204 NP_001070672 Q1MSJ5 CSPP1_HUMAN centrosome spindle pole associated protein 1 118 Potential. centrosome|microtubule|spindle ovary(3)|breast(2) 5 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) AGACTATGAACGGAAGAAACA 0.303 PREX2 80243 broad.mit.edu 37 8 68989660 68989660 + Missense_Mutation SNP T T A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:68989660T>A uc003xxv.1 + 15 1625 c.1598T>A c.(1597-1599)ATG>AAG p.M533K PREX2_uc003xxu.1_Missense_Mutation_p.M533K|PREX2_uc011lez.1_Missense_Mutation_p.M468K NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 533 DEP 2. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 GAAGAGGCAATGATATTTGGC 0.438 PREX2 80243 broad.mit.edu 37 8 69046300 69046300 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:69046300A>G uc003xxv.1 + 32 3800 c.3773A>G c.(3772-3774)GAG>GGG p.E1258G NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 1258 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 ACAGATAGTGAGACACAGCTC 0.458 PREX2 80243 broad.mit.edu 37 8 69046345 69046345 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:69046345C>T uc003xxv.1 + 32 3845 c.3818C>T c.(3817-3819)GCC>GTC p.A1273V NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 1273 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 ACTCTTGTGGCCACTGTCTGT 0.483 C8orf34 116328 broad.mit.edu 37 8 69351816 69351816 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:69351816A>G uc010lyz.2 + 2 201 c.152A>G c.(151-153)AAC>AGC p.N51S C8orf34_uc010lyx.1_Missense_Mutation_p.N51S|C8orf34_uc010lyy.1_Missense_Mutation_p.N51S|C8orf34_uc003xyb.2_Missense_Mutation_p.N26S NM_052958 NP_443190 Q49A92 CH034_HUMAN hypothetical protein LOC116328 51 signal transduction cAMP-dependent protein kinase regulator activity large_intestine(1) 1 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) AAACAAGGGAACCGTGGACAA 0.408 SULF1 23213 broad.mit.edu 37 8 70501233 70501233 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:70501233C>T uc010lza.1 + 8 1308 c.591C>T c.(589-591)AAC>AAT p.N197N SULF1_uc003xyd.2_Silent_p.N197N|SULF1_uc003xye.2_Silent_p.N197N|SULF1_uc003xyf.2_Silent_p.N197N|SULF1_uc003xyg.2_Silent_p.N197N NM_015170 NP_055985 Q8IWU6 SULF1_HUMAN sulfatase 1 precursor 197 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1) 7 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TAATCACTAACGAGAGCATTA 0.423 SULF1 23213 broad.mit.edu 37 8 70517125 70517125 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:70517125C>T uc010lza.1 + 13 2052 c.1335C>T c.(1333-1335)TGC>TGT p.C445C SULF1_uc003xyd.2_Silent_p.C445C|SULF1_uc003xye.2_Silent_p.C445C|SULF1_uc003xyf.2_Silent_p.C445C|SULF1_uc003xyg.2_Silent_p.C445C|SULF1_uc003xyh.1_RNA NM_015170 NP_055985 Q8IWU6 SULF1_HUMAN sulfatase 1 precursor 445 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1) 7 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) AAGAACTATGCCAGCAGGCCA 0.458 SULF1 23213 broad.mit.edu 37 8 70536319 70536319 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:70536319A>G uc010lza.1 + 15 2454 c.1737A>G c.(1735-1737)GAA>GAG p.E579E SULF1_uc003xyd.2_Silent_p.E579E|SULF1_uc003xye.2_Silent_p.E579E|SULF1_uc003xyf.2_Silent_p.E579E|SULF1_uc003xyg.2_Silent_p.E579E|SULF1_uc003xyh.1_RNA NM_015170 NP_055985 Q8IWU6 SULF1_HUMAN sulfatase 1 precursor 579 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1) 7 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) GTCATGATGAAGGCCACAAGG 0.502 EYA1 2138 broad.mit.edu 37 8 72229848 72229848 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:72229848G>A uc003xys.3 - 6 782 c.495C>T c.(493-495)AGC>AGT p.S165S EYA1_uc003xyr.3_Silent_p.S160S|EYA1_uc003xyt.3_Silent_p.S132S|EYA1_uc010lzf.2_Silent_p.S92S|EYA1_uc003xyu.2_Silent_p.S165S|EYA1_uc011lfe.1_Silent_p.S159S|EYA1_uc003xyv.2_Silent_p.S43S NM_172058 NP_742055 Q99502 EYA1_HUMAN eyes absent 1 isoform b 165 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 5 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) TTGTGCCATAGCTGAGAAATC 0.463 STAU2 27067 broad.mit.edu 37 8 74464497 74464497 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:74464497C>T uc003xzm.2 - 13 1516 c.1280G>A c.(1279-1281)CGC>CAC p.R427H STAU2_uc011lfg.1_Missense_Mutation_p.R255H|STAU2_uc003xzn.2_Missense_Mutation_p.R395H|STAU2_uc011lfh.1_Missense_Mutation_p.R323H|STAU2_uc003xzo.2_Missense_Mutation_p.R427H|STAU2_uc003xzp.2_Missense_Mutation_p.R395H|STAU2_uc011lfi.1_Missense_Mutation_p.R389H|STAU2_uc003xzq.2_Missense_Mutation_p.R207H|STAU2_uc010lzk.2_Missense_Mutation_p.R395H|STAU2_uc010lzl.1_Missense_Mutation_p.R255H NM_014393 NP_055208 Q9NUL3 STAU2_HUMAN staufen homolog 2 isoform e 427 Required for dendritic transport (By similarity). transport endoplasmic reticulum|microtubule|nucleolus double-stranded RNA binding 0 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) TACTTTGTGGCGGCTGGCTTC 0.373 ZNF704 619279 broad.mit.edu 37 8 81555314 81555314 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:81555314C>T uc003yby.1 - 8 1315 c.1083G>A c.(1081-1083)GCG>GCA p.A361A NM_001033723 NP_001028895 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 361 intracellular zinc ion binding 0 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) GGACCGTGTGCGCATGCTGTC 0.522 ATP6V0D2 245972 broad.mit.edu 37 8 87111213 87111213 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:87111213C>T uc003ydp.1 + 1 75 c.6C>T c.(4-6)CTC>CTT p.L2L NM_152565 NP_689778 Q8N8Y2 VA0D2_HUMAN ATPase, H+ transporting, lysosomal 38kDa, V0 2 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex hydrogen ion transmembrane transporter activity|protein binding 0 CCCCCATGCTCGAAGGTGCGG 0.552 RIPK2 8767 broad.mit.edu 37 8 90796355 90796355 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:90796355T>C uc003yee.2 + 8 1331 c.1017T>C c.(1015-1017)CAT>CAC p.H339H RIPK2_uc003yef.2_Silent_p.H202H NM_003821 NP_003812 O43353 RIPK2_HUMAN receptor-interacting serine-threonine kinase 2 339 activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(11;0.0474) CTGTAAATCATGGTCCACAAG 0.239 RUNX1T1 862 broad.mit.edu 37 8 93088227 93088227 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:93088227G>A uc003yfd.2 - 1 138 c.54C>T c.(52-54)GAC>GAT p.D18D RUNX1T1_uc003yfe.1_Intron|RUNX1T1_uc010mao.2_5'UTR|RUNX1T1_uc011lgi.1_Intron|RUNX1T1_uc003yfh.1_Intron NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 18 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) TTTTCCGGCAGTCACCTATTA 0.363 KIAA1429 25962 broad.mit.edu 37 8 95501084 95501084 + Nonsense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:95501084G>T uc003ygo.1 - 24 5302 c.5289C>A c.(5287-5289)TAC>TAA p.Y1763* KIAA1429_uc010maz.1_RNA NM_015496 NP_056311 Q69YN4 VIR_HUMAN hypothetical protein LOC25962 isoform 1 1763 mRNA processing|RNA splicing nucleus ovary(1)|skin(1) 2 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) GACTTGGGCGGTAACCTGTAA 0.453 KIAA1429 25962 broad.mit.edu 37 8 95538496 95538496 + Missense_Mutation SNP A A T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:95538496A>T uc003ygo.1 - 8 1989 c.1976T>A c.(1975-1977)ATT>AAT p.I659N KIAA1429_uc003ygp.2_Missense_Mutation_p.I659N|KIAA1429_uc010maz.1_RNA NM_015496 NP_056311 Q69YN4 VIR_HUMAN hypothetical protein LOC25962 isoform 1 659 mRNA processing|RNA splicing nucleus ovary(1)|skin(1) 2 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) AGGTCCAGTAATTCGTGCCAT 0.393 UQCRB 7381 broad.mit.edu 37 8 97243341 97243341 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:97243341G>A uc003yhq.3 - 4 382 c.278C>T c.(277-279)CCG>CTG p.P93L UQCRB_uc011lgt.1_RNA|UQCRB_uc010mbc.2_RNA NM_006294 NP_006285 P14927 QCR7_HUMAN ubiquinol-cytochrome c reductase binding 93 aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c mitochondrial respiratory chain ubiquinol-cytochrome-c reductase activity ovary(1) 1 Breast(36;5.16e-05) TTTCAGATACGGTTCAAGGTA 0.353 DCAF13 25879 broad.mit.edu 37 8 104427572 104427572 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:104427572T>C uc003yln.2 + 1 631 c.354T>C c.(352-354)ACT>ACC p.T118T SLC25A32_uc003yll.2_5'Flank|SLC25A32_uc011lhr.1_5'Flank|DCAF13_uc003ylm.1_5'UTR|DCAF13_uc003ylo.2_5'UTR NM_015420 NP_056235 Q9NV06 DCA13_HUMAN WD repeats and SOF1 domain containing Error:Variant_position_missing_in_Q9NV06_after_alignment rRNA processing CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex breast(1) 1 GTCACGTGACTGGAAGTAGTC 0.637 RIMS2 9699 broad.mit.edu 37 8 104897787 104897787 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:104897787C>T uc003yls.2 + 2 535 c.294C>T c.(292-294)TAC>TAT p.Y98Y RIMS2_uc003ylp.2_Silent_p.Y320Y|RIMS2_uc003ylw.2_Silent_p.Y128Y|RIMS2_uc003ylq.2_Silent_p.Y128Y|RIMS2_uc003ylr.2_Silent_p.Y128Y NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 351 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GAGATGAATACGAAAGGCAAA 0.428 HNSCC(12;0.0054) RIMS2 9699 broad.mit.edu 37 8 104922390 104922390 + Missense_Mutation SNP T T G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:104922390T>G uc003yls.2 + 3 1228 c.987T>G c.(985-987)CAT>CAG p.H329Q RIMS2_uc003ylp.2_Missense_Mutation_p.H551Q|RIMS2_uc003ylw.2_Missense_Mutation_p.H359Q|RIMS2_uc003ylq.2_Missense_Mutation_p.H359Q|RIMS2_uc003ylr.2_Intron|RIMS2_uc003ylt.2_5'Flank NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GGTTGGATCATACGTCTTGGC 0.393 HNSCC(12;0.0054) OXR1 55074 broad.mit.edu 37 8 107691480 107691480 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:107691480G>A uc011lht.1 + 3 365 c.266G>A c.(265-267)CGA>CAA p.R89Q OXR1_uc003ymf.2_Missense_Mutation_p.R88Q|OXR1_uc011lhu.1_Missense_Mutation_p.R81Q|OXR1_uc010mcg.2_Intron|OXR1_uc003ymg.1_Missense_Mutation_p.R21Q|OXR1_uc003ymi.1_5'UTR NM_018002 NP_060472 Q8N573 OXR1_HUMAN oxidation resistance 1 isoform 1 89 cell wall macromolecule catabolic process|response to oxidative stress mitochondrion 0 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) GATGGAAGACGAATGTCTTTT 0.338 CSMD3 114788 broad.mit.edu 37 8 113301668 113301668 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:113301668C>T uc003ynu.2 - 57 9233 c.9074G>A c.(9073-9075)CGT>CAT p.R3025H CSMD3_uc003yns.2_Missense_Mutation_p.R2227H|CSMD3_uc003ynt.2_Missense_Mutation_p.R2985H|CSMD3_uc011lhx.1_Missense_Mutation_p.R2856H NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3025 Sushi 21.|Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TAAAAGGGAACGCTTTCCTGT 0.468 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) CSMD3 114788 broad.mit.edu 37 8 113308134 113308134 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:113308134G>A uc003ynu.2 - 54 8701 c.8542C>T c.(8542-8544)CGA>TGA p.R2848* CSMD3_uc003yns.2_Nonsense_Mutation_p.R2050*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.R2808*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.R2679* NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2848 Extracellular (Potential).|Sushi 18. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CCAATCAATCGAAAACCAGGA 0.403 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) CSMD3 114788 broad.mit.edu 37 8 113314034 113314034 + Missense_Mutation SNP T T A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:113314034T>A uc003ynu.2 - 53 8587 c.8428A>T c.(8428-8430)ACC>TCC p.T2810S CSMD3_uc003yns.2_Missense_Mutation_p.T2012S|CSMD3_uc003ynt.2_Missense_Mutation_p.T2770S|CSMD3_uc011lhx.1_Missense_Mutation_p.T2641S NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2810 Extracellular (Potential).|Sushi 17. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 AGGCATCTGGTTTCAGATTCA 0.438 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) CSMD3 114788 broad.mit.edu 37 8 113702263 113702263 + Missense_Mutation SNP A A C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:113702263A>C uc003ynu.2 - 14 2148 c.1989T>G c.(1987-1989)AGT>AGG p.S663R CSMD3_uc003yns.2_5'UTR|CSMD3_uc003ynt.2_Missense_Mutation_p.S623R|CSMD3_uc011lhx.1_Missense_Mutation_p.S559R NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 663 Extracellular (Potential).|Sushi 3. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GATCACCACAACTTTCTTTCT 0.363 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) TRPS1 7227 broad.mit.edu 37 8 116617110 116617110 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:116617110T>C uc003ynz.2 - 3 1506 c.1047A>G c.(1045-1047)GAA>GAG p.E349E TRPS1_uc011lhy.1_Silent_p.E353E|TRPS1_uc003yny.2_Silent_p.E362E|TRPS1_uc010mcy.2_Silent_p.E349E NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 349 C2H2-type 2; atypical. negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) GTTGTTCTAATTCGGTGGATG 0.413 Langer-Giedion_syndrome RAD21 5885 broad.mit.edu 37 8 117866524 117866524 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:117866524G>A uc003yod.2 - 9 1409 c.1121C>T c.(1120-1122)TCT>TTT p.S374F NM_006265 NP_006256 O60216 RAD21_HUMAN RAD21 homolog 374 Interaction with WAPAL and PDS5B.|Interaction with STAG1. apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding lung(1)|skin(1) 2 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) AGCAGGTAAAGAAAACAGTTT 0.348 C8orf85 441376 broad.mit.edu 37 8 117950593 117950593 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:117950593C>T uc003yof.2 + 1 130 c.111C>T c.(109-111)TTC>TTT p.F37F NM_001025357 NP_001020528 Q4LEZ3 AARD_HUMAN alanine and arginine-rich domain-containing 37 0 GCGACTTCTTCGGGGACGGCA 0.687 ENPP2 5168 broad.mit.edu 37 8 120583061 120583061 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:120583061G>A uc003yot.1 - 20 1887 c.1801C>T c.(1801-1803)CGA>TGA p.R601* ENPP2_uc011lic.1_Nonsense_Mutation_p.R139*|ENPP2_uc003yor.1_Nonsense_Mutation_p.R236*|ENPP2_uc003yos.1_Nonsense_Mutation_p.R653*|ENPP2_uc010mdd.1_Nonsense_Mutation_p.R626* NM_001040092 NP_001035181 Q13822 ENPP2_HUMAN autotaxin isoform 2 preproprotein 601 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1) 7 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) ACTGCAGGTCGCCCATAGAGG 0.338 TAF2 6873 broad.mit.edu 37 8 120754889 120754889 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:120754889C>T uc003you.2 - 25 3492 c.3222G>A c.(3220-3222)TCG>TCA p.S1074S NM_003184 NP_003175 Q6P1X5 TAF2_HUMAN TBP-associated factor 2 1074 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding large_intestine(2)|ovary(2)|kidney(1)|skin(1) 6 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) GCCGATATTTCGAGAGCCCTA 0.438 DSCC1 79075 broad.mit.edu 37 8 120865444 120865444 + Missense_Mutation SNP C C T rs143137070 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:120865444C>T uc003yov.2 - 2 329 c.194G>A c.(193-195)CGT>CAT p.R65H NM_024094 NP_076999 Q9BVC3 DCC1_HUMAN defective in sister chromatid cohesion 1 65 DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication chromatin|chromosome, centromeric region|nucleoplasm DNA binding|protein binding pancreas(1) 1 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TTTATCACCACGAATCACAAG 0.393 ATAD2 29028 broad.mit.edu 37 8 124335285 124335285 + Nonsense_Mutation SNP T T A rs147415119 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:124335285T>A uc003yqh.3 - 27 4132 c.4024A>T c.(4024-4026)AAA>TAA p.K1342* ATAD2_uc011lii.1_Nonsense_Mutation_p.K1133*|ATAD2_uc003yqi.3_RNA NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 1342 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity ovary(2) 2 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) TGACTTTTTTTAACAACAGTC 0.328 ANXA13 312 broad.mit.edu 37 8 124707927 124707927 + Splice_Site SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:124707927C>T uc003yqu.2 - 5 464 c.391_splice c.e5+1 p.L131_splice ANXA13_uc003yqt.2_Splice_Site_p.L172_splice NM_004306 NP_004297 P27216 ANX13_HUMAN annexin A13 isoform a cell differentiation plasma membrane calcium ion binding|calcium-dependent phospholipid binding ovary(1)|pancreas(1)|skin(1) 3 Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00288) AAGTCACTTACGCCTTTGGTA 0.363 FER1L6 654463 broad.mit.edu 37 8 125131185 125131185 + Missense_Mutation SNP A A T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:125131185A>T uc003yqw.2 + 40 5596 c.5390A>T c.(5389-5391)AAC>ATC p.N1797I uc003yqy.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 1797 Cytoplasmic (Potential). integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) GCCAAGCCCAAGTGAGTGGAG 0.517 KIAA0196 9897 broad.mit.edu 37 8 126079934 126079934 + Missense_Mutation SNP C C T rs151298198 byFrequency TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:126079934C>T uc003yrt.2 - 10 1507 c.1178G>A c.(1177-1179)CGT>CAT p.R393H KIAA0196_uc011lir.1_Missense_Mutation_p.R245H|KIAA0196_uc003yru.1_5'UTR NM_014846 NP_055661 Q12768 STRUM_HUMAN strumpellin 393 cell death WASH complex ovary(2) 2 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) CTTGATTTGACGAAGGCGTTT 0.373 ADCY8 114 broad.mit.edu 37 8 131797706 131797706 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:131797706G>A uc003ytd.3 - 16 3332 c.3076C>T c.(3076-3078)CGA>TGA p.R1026* ADCY8_uc010mds.2_Nonsense_Mutation_p.R895* NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 1026 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TCTTGAAATCGGTCTTCACCA 0.502 HNSCC(32;0.087) ADCY8 114 broad.mit.edu 37 8 131848567 131848567 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:131848567G>A uc003ytd.3 - 12 2887 c.2631C>T c.(2629-2631)TAC>TAT p.Y877Y ADCY8_uc010mds.2_Silent_p.Y746Y NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 877 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) AGAGGCCTGCGTAGACGGTCT 0.542 HNSCC(32;0.087) EFR3A 23167 broad.mit.edu 37 8 133008660 133008660 + Missense_Mutation SNP T T G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:133008660T>G uc003yte.2 + 19 2274 c.2073T>G c.(2071-2073)GAT>GAG p.D691E NM_015137 NP_055952 Q14156 EFR3A_HUMAN EFR3 homolog A 691 plasma membrane binding ovary(3)|breast(1)|central_nervous_system(1) 5 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) TAGATGAAGATCGACTTTCTA 0.308 TG 7038 broad.mit.edu 37 8 133894824 133894824 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:133894824G>A uc003ytw.2 + 7 897 c.856G>A c.(856-858)GCA>ACA p.A286T NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 286 Thyroglobulin type-1 3. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) ACGGTTCCTCGCAGTTCAATC 0.473 WISP1 8840 broad.mit.edu 37 8 134237661 134237661 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:134237661C>T uc003yub.2 + 4 715 c.639C>T c.(637-639)CAC>CAT p.H213H WISP1_uc003yuc.2_Silent_p.H126H|WISP1_uc010meb.2_Silent_p.H41H|WISP1_uc010mec.2_Intron|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_Intron NM_003882 NP_003873 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 213 cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|kidney(1) 2 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) AGGCATGGCACAGGAACTGCA 0.592 COL22A1 169044 broad.mit.edu 37 8 139820047 139820047 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:139820047C>A uc003yvd.2 - 10 1905 c.1458G>T c.(1456-1458)ATG>ATT p.M486I NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 486 Collagen-like 1.|Pro-rich.|Gly-rich. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CAGCAACTCCCATTTCACCCT 0.448 HNSCC(7;0.00092) COL22A1 169044 broad.mit.edu 37 8 139890011 139890011 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:139890011G>A uc003yvd.2 - 3 1087 c.640C>T c.(640-642)CGG>TGG p.R214W NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 214 cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) AGACGGCGCCGCAGCTTGCCC 0.652 HNSCC(7;0.00092) PTK2 5747 broad.mit.edu 37 8 141753359 141753359 + Nonsense_Mutation SNP G G A rs139298046 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:141753359G>A uc003yvu.2 - 20 1935 c.1705C>T c.(1705-1707)CGA>TGA p.R569* PTK2_uc003yvo.2_Nonsense_Mutation_p.R197*|PTK2_uc011ljq.1_Nonsense_Mutation_p.R264*|PTK2_uc003yvp.2_Nonsense_Mutation_p.R237*|PTK2_uc003yvq.2_Nonsense_Mutation_p.R95*|PTK2_uc003yvr.2_Nonsense_Mutation_p.R509*|PTK2_uc003yvs.2_Nonsense_Mutation_p.R569*|PTK2_uc003yvt.2_Nonsense_Mutation_p.R591*|PTK2_uc003yvv.2_Nonsense_Mutation_p.R469*|PTK2_uc011ljr.1_Nonsense_Mutation_p.R569* NM_153831 NP_722560 Q05397 FAK1_HUMAN PTK2 protein tyrosine kinase 2 isoform a 569 Protein kinase. axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly cytoskeleton|cytosol|focal adhesion ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity ovary(2)|lung(2)|central_nervous_system(1)|skin(1) 6 all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;2.72e-05)|Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.137) TCCATATATCGGGATAATCCA 0.348 DENND3 22898 broad.mit.edu 37 8 142176464 142176464 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:142176464G>A uc003yvy.2 + 12 1767 c.1489G>A c.(1489-1491)GCA>ACA p.A497T DENND3_uc010mep.2_Missense_Mutation_p.A458T|DENND3_uc003yvz.1_Missense_Mutation_p.A181T NM_014957 NP_055772 A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 497 ovary(1) 1 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) GACGGACACCGCAGGCTGTAG 0.632 DENND3 22898 broad.mit.edu 37 8 142178455 142178455 + Silent SNP C C T rs147231668 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:142178455C>T uc003yvy.2 + 13 2144 c.1866C>T c.(1864-1866)AGC>AGT p.S622S DENND3_uc010mep.2_Silent_p.S583S|DENND3_uc003yvz.1_Silent_p.S306S NM_014957 NP_055772 A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 622 ovary(1) 1 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) GGCTCATCAGCGAGATCCTGG 0.592 FLJ43860 389690 broad.mit.edu 37 8 142517187 142517187 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:142517187G>A uc003ywi.2 - 1 144 c.63C>T c.(61-63)GCC>GCT p.A21A NM_207414 NP_997297 Q6ZUA9 Q6ZUA9_HUMAN hypothetical protein LOC389690 21 binding 0 all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) TTTGGGACACGGCTGACGACA 0.632 GPIHBP1 338328 broad.mit.edu 37 8 144295734 144295734 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:144295734C>A uc003yxu.1 + 2 165 c.90C>A c.(88-90)GAC>GAA p.D30E NM_178172 NP_835466 Q8IV16 HDBP1_HUMAN glycosylphosphatidylinositol anchored high 30 Poly-Glu. cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity 0 all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) aggaagaggacgaggaccacg 0.378 ZNF696 79943 broad.mit.edu 37 8 144375210 144375210 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:144375210C>T uc003yxy.3 + 2 448 c.39C>T c.(37-39)AGC>AGT p.S13S NM_030895 NP_112157 Q9H7X3 ZN696_HUMAN zinc finger protein 696 13 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) CTAAAGAGAGCAGTACCCTGA 0.493 NRBP2 340371 broad.mit.edu 37 8 144919209 144919209 + Splice_Site SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:144919209A>G uc011lkt.1 - 14 1403 c.1263_splice c.e14+1 p.K421_splice NRBP2_uc003yzv.2_Splice_Site_p.K178_splice|NRBP2_uc003yzz.1_Intron|NRBP2_uc003yzw.2_Splice_Site_p.K213_splice|NRBP2_uc010mfl.2_Splice_Site_p.K213_splice|NRBP2_uc010mfm.2_Splice_Site_p.K178_splice|NRBP2_uc011lks.1_Splice_Site_p.K178_splice|NRBP2_uc003yzy.2_Splice_Site_p.K178_splice NM_178564 NP_848659 Q9NSY0 NRBP2_HUMAN nuclear receptor binding protein 2 negative regulation of neuron apoptosis|neuron differentiation cytoplasm ATP binding|protein kinase activity central_nervous_system(2) 2 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) GAGGGGACTCACCTTTCTGGT 0.637 EPPK1 83481 broad.mit.edu 37 8 144941617 144941617 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:144941617G>A uc003zaa.1 - 1 5818 c.5805C>T c.(5803-5805)GCC>GCT p.A1935A NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 1935 Plectin 32. cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ACCCGGTGGCGGCCTGCGCCT 0.657 PLEC 5339 broad.mit.edu 37 8 144998442 144998442 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:144998442C>T uc003zaf.1 - 31 6236 c.6066G>A c.(6064-6066)GCG>GCA p.A2022A PLEC_uc003zab.1_Silent_p.A1885A|PLEC_uc003zac.1_Silent_p.A1889A|PLEC_uc003zad.2_Silent_p.A1885A|PLEC_uc003zae.1_Silent_p.A1853A|PLEC_uc003zag.1_Silent_p.A1863A|PLEC_uc003zah.2_Silent_p.A1871A|PLEC_uc003zaj.2_Silent_p.A1912A NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 2022 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 CCTTGTGTTGCGCGGCCTGCT 0.706 GPR172A 79581 broad.mit.edu 37 8 145583577 145583577 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:145583577G>A uc003zcc.1 + 3 582 c.425G>A c.(424-426)CGC>CAC p.R142H FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Missense_Mutation_p.R142H|GPR172A_uc003zce.1_Missense_Mutation_p.R142H|GPR172A_uc010mfy.1_Missense_Mutation_p.R142H|GPR172A_uc003zcf.1_Missense_Mutation_p.R142H|GPR172A_uc011llc.1_Missense_Mutation_p.R54H NM_024531 NP_078807 Q9HAB3 RFT3_HUMAN G protein-coupled receptor 172A precursor 142 integral to plasma membrane receptor activity|riboflavin transporter activity 0 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) CTGCCACCTCGCTTCTTACGG 0.617 CPSF1 29894 broad.mit.edu 37 8 145621823 145621823 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:145621823C>A uc003zcj.2 - 25 2891 c.2816G>T c.(2815-2817)GGC>GTC p.G939V NM_013291 NP_037423 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 939 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding skin(1) 1 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) CCCTGAGTAGCCATAAATATC 0.632 ZNF34 80778 broad.mit.edu 37 8 145999196 145999196 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:145999196G>A uc003zdy.3 - 6 1240 c.1138C>T c.(1138-1140)CGA>TGA p.R380* ZNF34_uc010mgb.2_Nonsense_Mutation_p.R277*|ZNF34_uc003zdx.3_Nonsense_Mutation_p.R359* NM_030580 NP_085057 Q8IZ26 ZNF34_HUMAN zinc finger protein 34 380 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.221) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.0179) CGACGATGTCGGATAAGGATT 0.453 C9orf66 157983 broad.mit.edu 37 9 214857 214857 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:214857C>T uc003zge.3 - 1 1037 c.540G>A c.(538-540)GCG>GCA p.A180A DOCK8_uc011lls.1_5'Flank|DOCK8_uc003zgf.2_5'Flank NM_152569 NP_689782 Q5T8R8 CI066_HUMAN hypothetical protein LOC157983 180 central_nervous_system(1) 1 all_lung(41;0.218) all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) AAGTTTCCAGCGCCGACCGAC 0.701 SMARCA2 6595 broad.mit.edu 37 9 2054701 2054701 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:2054701G>A uc003zhc.2 + 6 1250 c.1151G>A c.(1150-1152)CGG>CAG p.R384Q SMARCA2_uc003zhd.2_Missense_Mutation_p.R384Q|SMARCA2_uc010mha.2_Missense_Mutation_p.R375Q NM_003070 NP_003061 P51531 SMCA2_HUMAN SWI/SNF-related matrix-associated 384 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1) 3 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) AAAGCACTTCGGTTACTCAAT 0.418 SMARCA2 6595 broad.mit.edu 37 9 2123835 2123835 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:2123835G>T uc003zhc.2 + 27 3978 c.3879G>T c.(3877-3879)AGG>AGT p.R1293S SMARCA2_uc003zhd.2_Missense_Mutation_p.R1293S|SMARCA2_uc010mha.2_Missense_Mutation_p.R1226S NM_003070 NP_003061 P51531 SMCA2_HUMAN SWI/SNF-related matrix-associated 1293 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1) 3 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) AAGTAGAAAGGCTCACCTGTG 0.572 KLHL9 55958 broad.mit.edu 37 9 21334793 21334793 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:21334793T>C uc003zoy.2 - 1 637 c.66A>G c.(64-66)GGA>GGG p.G22G KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_RNA NM_018847 NP_061335 Q9P2J3 KLHL9_HUMAN kelch-like 9 22 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex|midbody ovary(3)|skin(1) 4 Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118) AGCGTGTGGTTCCTGCCTTAC 0.483 TEK 7010 broad.mit.edu 37 9 27206739 27206739 + Missense_Mutation SNP C C T rs147231791 by1000genomes TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:27206739C>T uc003zqi.3 + 15 2966 c.2524C>T c.(2524-2526)CGC>TGC p.R842C TEK_uc011lno.1_Missense_Mutation_p.R799C|TEK_uc011lnp.1_Missense_Mutation_p.R694C|TEK_uc003zqj.1_Missense_Mutation_p.R776C NM_000459 NP_000450 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial precursor 842 Protein kinase.|Cytoplasmic (Potential). angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1) 12 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) TCTTAAGGCGCGCATCAAGAA 0.453 SPAG8 26206 broad.mit.edu 37 9 35812118 35812118 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:35812118T>C uc003zye.2 - 1 142 c.27A>G c.(25-27)GGA>GGG p.G9G SPAG8_uc003zyf.2_5'UTR|SPAG8_uc003zyg.2_Silent_p.G9G NM_172312 NP_758516 Q99932 SPAG8_HUMAN sperm associated antigen 8 isoform 2 9 acrosomal vesicle|membrane ovary(1) 1 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) GCGACCGCGATCCCTCCGTAG 0.592 C9orf128 392307 broad.mit.edu 37 9 35825359 35825359 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:35825359G>A uc010mlc.2 - 3 895 c.610C>T c.(610-612)CGC>TGC p.R204C C9orf128_uc003zyj.2_RNA|C9orf128_uc011lpg.1_Missense_Mutation_p.R204C NM_001012446 NP_001012448 A6H8Z2 CI128_HUMAN hypothetical protein LOC392307 204 0 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) AACACTGGGCGGGCTGTGTTA 0.527 CCIN 881 broad.mit.edu 37 9 36171031 36171031 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:36171031G>A uc003zzb.3 + 1 1643 c.1532G>A c.(1531-1533)TGC>TAC p.C511Y NM_005893 NP_005884 Q13939 CALI_HUMAN calicin 511 Kelch 5. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton ovary(1)|skin(1) 2 STAD - Stomach adenocarcinoma(86;0.228) CCCAACAGCTGCCCCTTGGAT 0.547 ZCCHC7 84186 broad.mit.edu 37 9 37126308 37126308 + Splice_Site SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:37126308G>T uc003zzq.2 + 2 153 c.-20_splice c.e2-1 ZCCHC7_uc011lqh.1_Intron|ZCCHC7_uc011lqi.1_Splice_Site|ZCCHC7_uc010mlt.2_Splice_Site|ZCCHC7_uc003zzs.1_Splice_Site NM_032226 NP_115602 Q8N3Z6 ZCHC7_HUMAN zinc finger, CCHC domain containing 7 nucleic acid binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(29;0.0137) CTCTTTTGCAGCTTCAAGGTT 0.363 FRMPD1 22844 broad.mit.edu 37 9 37745690 37745690 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:37745690G>A uc004aag.1 + 16 3705 c.3661G>A c.(3661-3663)GTC>ATC p.V1221I FRMPD1_uc004aah.1_Missense_Mutation_p.V1221I NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 1221 cytoskeleton|cytosol|plasma membrane ovary(4)|central_nervous_system(2)|skin(2)|breast(1) 9 GBM - Glioblastoma multiforme(29;0.00655) TTCACCAGCCGTCCCTCCAGA 0.527 PGM5 5239 broad.mit.edu 37 9 70993121 70993121 + Nonsense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:70993121C>T uc004agr.2 + 2 497 c.268C>T c.(268-270)CGA>TGA p.R90* NM_021965 NP_068800 Q15124 PGM5_HUMAN phosphoglucomutase 5 90 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity ovary(1)|pancreas(1) 2 TTAGATTGGACGACTGATTAT 0.443 PGM5 5239 broad.mit.edu 37 9 70993145 70993145 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:70993145A>G uc004agr.2 + 2 521 c.292A>G c.(292-294)ATC>GTC p.I98V NM_021965 NP_068800 Q15124 PGM5_HUMAN phosphoglucomutase 5 98 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity ovary(1)|pancreas(1) 2 ACAGAATGGCATCTTGTCGAC 0.478 C9orf41 138199 broad.mit.edu 37 9 77598694 77598694 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:77598694T>C uc004ajq.2 - 8 1372 c.1219A>G c.(1219-1221)AAG>GAG p.K407E uc004ajp.2_Intron NM_152420 NP_689633 Q8N4J0 CI041_HUMAN hypothetical protein LOC138199 407 ovary(1)|skin(1) 2 TATTGTGGCTTACGGACCACA 0.363 PCSK5 5125 broad.mit.edu 37 9 78710821 78710821 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:78710821G>A uc004ajz.2 + 8 1448 c.910G>A c.(910-912)GGC>AGC p.G304S PCSK5_uc004ajy.2_Missense_Mutation_p.G304S|PCSK5_uc004aka.2_RNA NM_006200 NP_006191 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 304 Catalytic. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity ovary(2)|skin(1) 3 GAGAGGCCTCGGCTCTGTGTT 0.493 FLJ46321 389763 broad.mit.edu 37 9 84609582 84609582 + Silent SNP T T G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:84609582T>G uc004amn.2 + 4 4244 c.4197T>G c.(4195-4197)ACT>ACG p.T1399T NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 1399 integral to membrane 0 TTACTGGGACTACTGAAGCTC 0.453 AGTPBP1 23287 broad.mit.edu 37 9 88248234 88248234 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:88248234C>T uc011ltd.1 - 13 1391 c.1358G>A c.(1357-1359)CGT>CAT p.R453H AGTPBP1_uc004aod.3_Missense_Mutation_p.R79H|AGTPBP1_uc011ltc.1_Missense_Mutation_p.R351H|AGTPBP1_uc010mqc.2_Missense_Mutation_p.R413H|AGTPBP1_uc011lte.1_Missense_Mutation_p.R465H NM_015239 NP_056054 Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 453 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(4)|large_intestine(2)|skin(1) 7 AATAGGACCACGTACTTTTCC 0.333 SHC3 53358 broad.mit.edu 37 9 91680487 91680487 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:91680487A>G uc004aqg.2 - 6 1099 c.792T>C c.(790-792)ACT>ACC p.T264T NM_016848 NP_058544 Q92529 SHC3_HUMAN src homology 2 domain-containing transforming 264 PID. central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol protein binding|signal transducer activity lung(3)|skin(1) 4 CAACATAGTCAGTTGTGTCCT 0.453 SYK 6850 broad.mit.edu 37 9 93606314 93606314 + Missense_Mutation SNP G G A rs16906862 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:93606314G>A uc004aqz.2 + 2 339 c.134G>A c.(133-135)CGC>CAC p.R45H SYK_uc004aqy.2_Missense_Mutation_p.R45H|SYK_uc004ara.2_Missense_Mutation_p.R45H|SYK_uc004arb.2_Missense_Mutation_p.R45H|SYK_uc004arc.2_Missense_Mutation_p.R45H|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA NM_003177 NP_003168 P43405 KSYK_HUMAN spleen tyrosine kinase isoform 1 45 SH2 1. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly cytosol|T cell receptor complex ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity lung(2)|stomach(1)|ovary(1)|skin(1) 5 CGCCAGAGCCGCAACTACCTG 0.617 T ETV6|ITK MDS|peripheral T-cell lymphoma AUH 549 broad.mit.edu 37 9 93983200 93983200 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:93983200C>T uc004arf.3 - 7 765 c.730G>A c.(730-732)GAT>AAT p.D244N AUH_uc004arg.3_Missense_Mutation_p.D215N NM_001698 NP_001689 Q13825 AUHM_HUMAN AU RNA binding protein/enoyl-Coenzyme A 244 branched chain family amino acid catabolic process|mRNA catabolic process mitochondrial matrix enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding 0 TCTTTGCCATCGAGGACTCGC 0.577 ROR2 4920 broad.mit.edu 37 9 94495598 94495598 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:94495598G>A uc004arj.1 - 6 942 c.743C>T c.(742-744)CCG>CTG p.P248L ROR2_uc004ari.1_Missense_Mutation_p.P108L|ROR2_uc004ark.2_Missense_Mutation_p.P248L NM_004560 NP_004551 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 248 FZ.|Extracellular (Potential). negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1) 20 CAGCTCACGCGGCTTGGGTGT 0.647 PHF2 5253 broad.mit.edu 37 9 96428129 96428129 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:96428129C>T uc004aub.2 + 15 2246 c.2099C>T c.(2098-2100)CCG>CTG p.P700L PHF2_uc011lug.1_Missense_Mutation_p.P583L|PHF2_uc004auc.2_Missense_Mutation_p.P119L NM_005392 NP_005383 O75151 PHF2_HUMAN PHD finger protein 2 700 liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) AAAAACGCCCCGAAAAGGGAC 0.612 ZNF169 169841 broad.mit.edu 37 9 97062823 97062823 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:97062823G>A uc004aum.1 + 5 1088 c.983G>A c.(982-984)CGC>CAC p.R328H NM_194320 NP_919301 Q14929 ZN169_HUMAN zinc finger protein 169 328 C2H2-type 4. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Acute lymphoblastic leukemia(62;0.136) CGAGGCTTTCGCCAGAAGATA 0.547 HIATL1 84641 broad.mit.edu 37 9 97203311 97203311 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:97203311C>T uc004aur.2 + 5 709 c.440C>T c.(439-441)ACG>ATG p.T147M HIATL1_uc011luh.1_Missense_Mutation_p.T82M NM_032558 NP_115947 Q5SR56 HIAL1_HUMAN hippocampus abundant transcript-like 1 147 Helical; (Potential). transmembrane transport integral to membrane|plasma membrane protein binding|transporter activity ovary(2) 2 Acute lymphoblastic leukemia(62;0.136) TTCTCGGTCACGTTTTCTGTT 0.368 FBP1 2203 broad.mit.edu 37 9 97382707 97382707 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:97382707G>A uc004auw.3 - 2 568 c.237C>T c.(235-237)AAC>AAT p.N79N FBP1_uc010mrl.2_Silent_p.N79N NM_000507 NP_000498 P09467 F16P1_HUMAN fructose-1,6-bisphosphatase 1 79 gluconeogenesis cytosol fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding 0 Acute lymphoblastic leukemia(62;0.136) Adenosine monophosphate(DB00131) TAACCAGGTCGTTGGAGAGGA 0.458 ZNF510 22869 broad.mit.edu 37 9 99521928 99521928 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:99521928C>T uc004awn.1 - 6 1373 c.1184G>A c.(1183-1185)CGA>CAA p.R395Q ZNF510_uc004awo.1_Missense_Mutation_p.R395Q NM_014930 NP_055745 Q9Y2H8 ZN510_HUMAN zinc finger protein 510 395 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Acute lymphoblastic leukemia(62;0.0527) GTGACTTCTTCGGCGAACTCT 0.398 TBC1D2 55357 broad.mit.edu 37 9 100961787 100961787 + Missense_Mutation SNP C C T rs145458773 byFrequency TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:100961787C>T uc011lvb.1 - 13 2843 c.2663G>A c.(2662-2664)CGG>CAG p.R888Q TBC1D2_uc004ayp.2_Missense_Mutation_p.R428Q|TBC1D2_uc004ayq.2_Missense_Mutation_p.R877Q|TBC1D2_uc004ayr.2_Missense_Mutation_p.R670Q|TBC1D2_uc004ayo.3_3'UTR NM_018421 NP_060891 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 888 Potential. cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity ovary(3) 3 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) AGCCTCCAGCCGCTCCCGGTG 0.637 GABBR2 9568 broad.mit.edu 37 9 101304194 101304194 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:101304194G>A uc004ays.2 - 3 747 c.591C>T c.(589-591)CGC>CGT p.R197R NM_005458 NP_005449 O75899 GABR2_HUMAN G protein-coupled receptor 51 precursor 197 Extracellular (Potential). negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(2)|skin(2) 4 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) GCGTGCCCACGCGCTTCCACT 0.522 ANKS6 203286 broad.mit.edu 37 9 101536250 101536250 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:101536250G>A uc004ayu.2 - 9 1751 c.1730C>T c.(1729-1731)ACG>ATG p.T577M ANKS6_uc004ayt.2_Missense_Mutation_p.T276M|ANKS6_uc004ayv.1_Missense_Mutation_p.T39M|ANKS6_uc004ayw.1_Missense_Mutation_p.T159M|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA NM_173551 NP_775822 Q68DC2 ANKS6_HUMAN ankyrin repeat and sterile alpha motif domain 577 ovary(2) 2 Acute lymphoblastic leukemia(62;0.0527) GTTGTGACGCGTCCGGGACCG 0.632 COL15A1 1306 broad.mit.edu 37 9 101832036 101832036 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:101832036G>A uc004azb.1 + 42 4241 c.4035G>A c.(4033-4035)GCG>GCA p.A1345A NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 1345 Nonhelical region 10 (NC10). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) GGCGAACCGCGGACACAGCGG 0.537 INVS 27130 broad.mit.edu 37 9 103035177 103035177 + Nonsense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:103035177G>T uc004bap.1 + 12 1815 c.1603G>T c.(1603-1605)GAG>TAG p.E535* INVS_uc010mta.1_Nonsense_Mutation_p.E439*|INVS_uc011lve.1_Nonsense_Mutation_p.E439*|INVS_uc004bao.1_Nonsense_Mutation_p.E535*|INVS_uc004baq.1_Nonsense_Mutation_p.E439*|INVS_uc004bar.1_Nonsense_Mutation_p.E439*|INVS_uc010mtb.1_Nonsense_Mutation_p.E209* NM_014425 NP_055240 Q9Y283 INVS_HUMAN inversin isoform a 535 ANK 16. negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|membrane|microtubule|nucleus|spindle calmodulin binding ovary(2) 2 Acute lymphoblastic leukemia(62;0.056) TTTGCTTGGTGAGCGCCATGA 0.428 SMC2 10592 broad.mit.edu 37 9 106876290 106876290 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:106876290G>A uc004bbv.2 + 12 1748 c.1460G>A c.(1459-1461)CGT>CAT p.R487H SMC2_uc004bbu.1_Missense_Mutation_p.R487H|SMC2_uc004bbw.2_Missense_Mutation_p.R487H|SMC2_uc011lvl.1_Missense_Mutation_p.R487H|SMC2_uc004bbx.2_Missense_Mutation_p.R487H NM_001042551 NP_001036016 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 487 Potential. cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1) 9 CAGCTGTCTCGTGATATTGGT 0.343 KLF4 9314 broad.mit.edu 37 9 110249320 110249320 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:110249320C>T uc004bdh.2 - 3 1949 c.1328G>A c.(1327-1329)CGA>CAA p.R443Q KLF4_uc004bdf.1_Missense_Mutation_p.R368Q|KLF4_uc004bdg.2_Missense_Mutation_p.R418Q NM_004235 NP_004226 O43474 KLF4_HUMAN Kruppel-like factor 4 (gut) 452 C2H2-type 1. fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter nucleus RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(2)|lung(1) 3 TGTGTGGGTTCGCAGGTGTGC 0.587 EPB41L4B 54566 broad.mit.edu 37 9 112015826 112015826 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:112015826G>A uc004bdz.1 - 12 1469 c.1174C>T c.(1174-1176)CGG>TGG p.R392W EPB41L4B_uc004bea.2_Missense_Mutation_p.R392W NM_019114 NP_061987 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 392 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton ovary(1)|central_nervous_system(1)|skin(1) 3 TATTCTGTCCGCCCACTGGGA 0.423 PALM2-AKAP2 445815 broad.mit.edu 37 9 112687354 112687354 + Missense_Mutation SNP C C T rs150674445 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:112687354C>T uc004bei.2 + 5 578 c.386C>T c.(385-387)ACG>ATG p.T129M PALM2_uc004bef.2_Missense_Mutation_p.T131M|PALM2_uc004beg.2_Missense_Mutation_p.T131M|PALM2_uc004beh.3_Missense_Mutation_p.T129M|PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.T129M|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.T129M|PALM2-AKAP2_uc004bel.1_Translation_Start_Site NM_001136562 NP_001130034 Q9Y2D5 AKAP2_HUMAN A kinase (PRKA) anchor protein 2 isoform 2 Error:Variant_position_missing_in_Q9Y2D5_after_alignment enzyme binding ovary(3)|central_nervous_system(2)|skin(1) 6 TTCTCCAGTACGGATGGAGGT 0.458 RGS3 5998 broad.mit.edu 37 9 116359161 116359161 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:116359161G>A uc004bhq.2 + 26 3734 c.3525G>A c.(3523-3525)TCG>TCA p.S1175S RGS3_uc004bhs.2_Silent_p.S1065S|RGS3_uc004bht.2_Silent_p.S894S|RGS3_uc010muy.2_Silent_p.S568S|RGS3_uc004bhv.2_Silent_p.S496S|RGS3_uc004bhw.2_Silent_p.S145S|RGS3_uc011lxh.1_Silent_p.S485S|RGS3_uc004bhx.2_Silent_p.S496S|RGS3_uc004bhz.2_Silent_p.S517S|RGS3_uc004bia.2_Silent_p.S288S NM_144488 NP_652759 P49796 RGS3_HUMAN regulator of G-protein signalling 3 isoform 6 1175 RGS. inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity ovary(1)|lung(1)|skin(1) 3 AAAAGGACTCGTACCCTCGCT 0.582 AMBP 259 broad.mit.edu 37 9 116838907 116838907 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:116838907C>T uc004bie.3 - 2 494 c.231G>A c.(229-231)GCG>GCA p.A77A AMBP_uc011lxk.1_Silent_p.A18A|AMBP_uc010mvc.1_RNA NM_001633 NP_001624 P02760 AMBP_HUMAN alpha-1-microglobulin/bikunin preproprotein 77 cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage extracellular region|plasma membrane calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity skin(1) 1 Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) TGCTGATCTCCGCCTCTGTAG 0.607 TNFSF8 944 broad.mit.edu 37 9 117692480 117692480 + Missense_Mutation SNP C C A rs139509296 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:117692480C>A uc004bji.1 - 1 291 c.104G>T c.(103-105)AGC>ATC p.S35I NM_001244 NP_001235 P32971 TNFL8_HUMAN tumor necrosis factor (ligand) superfamily, 35 Cytoplasmic (Potential). cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction extracellular space|integral to plasma membrane cytokine activity|tumor necrosis factor receptor binding lung(3)|skin(2)|ovary(1) 6 ATAGCTGCGGCTCGTGGTCCC 0.602 TNC 3371 broad.mit.edu 37 9 117853061 117853061 + Silent SNP C C T rs149512169 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:117853061C>T uc004bjj.3 - 2 599 c.237G>A c.(235-237)CCG>CCA p.P79P TNC_uc010mvf.2_Silent_p.P79P NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 79 cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 GCTCTGAAGGCGGTGCCAGGT 0.562 ASTN2 23245 broad.mit.edu 37 9 119737508 119737508 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:119737508G>A uc004bjs.1 - 10 1969 c.1868C>T c.(1867-1869)ACG>ATG p.T623M ASTN2_uc004bjr.1_Missense_Mutation_p.T619M|ASTN2_uc004bjt.1_Missense_Mutation_p.T572M NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 623 Extracellular (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 AGGGTCTTCCGTGACGAGCAC 0.552 ASTN2 23245 broad.mit.edu 37 9 120053685 120053685 + Missense_Mutation SNP C C G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:120053685C>G uc004bjs.1 - 2 651 c.550G>C c.(550-552)GCC>CCC p.A184P ASTN2_uc004bjr.1_Missense_Mutation_p.A184P|ASTN2_uc004bjt.1_Missense_Mutation_p.A184P NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 184 Extracellular (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 GTGGCTTGGGCCAGCTGCCCG 0.602 GOLGA1 2800 broad.mit.edu 37 9 127652731 127652731 + Silent SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:127652731C>A uc004bpc.2 - 16 1776 c.1434G>T c.(1432-1434)GTG>GTT p.V478V GOLGA1_uc010mws.2_RNA NM_002077 NP_002068 Q92805 GOGA1_HUMAN golgin 97 478 Potential.|Gln-rich. Golgi cisterna membrane ovary(1) 1 TGGCCACGCTCACAATTTCTC 0.532 SCAI 286205 broad.mit.edu 37 9 127818218 127818218 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:127818218C>A uc004bpe.2 - 3 248 c.167G>T c.(166-168)AGG>ATG p.R56M SCAI_uc004bpd.2_Missense_Mutation_p.R79M|SCAI_uc010mwu.2_RNA NM_001144877 NP_001138349 Q8N9R8 SCAI_HUMAN suppressor of cancer cell invasion isoform 2 56 Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity). negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|integral to membrane|nucleus protein binding|transcription corepressor activity ovary(2)|breast(2)|central_nervous_system(1) 5 AACTGTTTTCCTCTCTCCCTG 0.378 RABEPK 10244 broad.mit.edu 37 9 127982827 127982827 + Missense_Mutation SNP C C T rs144370574 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:127982827C>T uc004bpi.2 + 6 547 c.374C>T c.(373-375)ACG>ATG p.T125M RABEPK_uc004bph.1_Missense_Mutation_p.R149C|RABEPK_uc004bpj.2_Missense_Mutation_p.T74M|RABEPK_uc004bpk.2_Missense_Mutation_p.T125M|RABEPK_uc004bpl.1_Missense_Mutation_p.T74M|RABEPK_uc004bpm.2_Missense_Mutation_p.T125M NM_005833 NP_005824 Q7Z6M1 RABEK_HUMAN Rab9 effector protein with kelch motifs 125 Kelch 2. receptor-mediated endocytosis|vesicle docking involved in exocytosis endosome membrane|plasma membrane ovary(1) 1 GAAACCAGGACGTGGACCACG 0.537 HSPA5 3309 broad.mit.edu 37 9 127998919 127998919 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:127998919G>A uc004bpn.2 - 8 2173 c.1917C>T c.(1915-1917)GGC>GGT p.G639G NM_005347 NP_005338 P11021 GRP78_HUMAN heat shock 70kDa protein 5 639 anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding ovary(3)|skin(1) 4 Antihemophilic Factor(DB00025) TTGGGGGAGGGCCTGCACTTC 0.413 Prostate(1;0.17) ZBTB43 23099 broad.mit.edu 37 9 129595780 129595780 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:129595780A>G uc004bql.2 + 3 1265 c.992A>G c.(991-993)GAT>GGT p.D331G ZBTB43_uc010mxf.2_Missense_Mutation_p.D331G NM_014007 NP_054726 O43298 ZBT43_HUMAN zinc finger and BTB domain containing 43 331 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GAGAGGTCAGATGGGAATCTA 0.458 ANGPTL2 23452 broad.mit.edu 37 9 129870416 129870416 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:129870416G>A uc004bqr.1 - 2 1095 c.595C>T c.(595-597)CAG>TAG p.Q199* RALGPS1_uc004bqo.1_Intron|RALGPS1_uc011mab.1_Intron|RALGPS1_uc011mac.1_Intron|RALGPS1_uc004bqq.3_Intron|ANGPTL2_uc010mxg.1_Intron NM_012098 NP_036230 Q9UKU9 ANGL2_HUMAN angiopoietin-like 2 precursor 199 Potential. multicellular organismal development|signal transduction extracellular space receptor binding 0 TCCTCAAGCTGCGCGATGATC 0.662 RPL12 6136 broad.mit.edu 37 9 130210644 130210644 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:130210644C>T uc004bqy.1 - 5 439 c.351G>A c.(349-351)CGG>CGA p.R117R RPL12_uc004bqx.1_RNA|RPL12_uc004bqz.1_Silent_p.R84R NM_000976 NP_000967 P30050 RL12_HUMAN ribosomal protein L12 117 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome RNA binding|structural constituent of ribosome 0 AGGATCGGTGCCGCATCTGTC 0.418 SH2D3C 10044 broad.mit.edu 37 9 130507045 130507045 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:130507045G>A uc004bsc.2 - 7 1740 c.1598C>T c.(1597-1599)GCC>GTC p.A533V SH2D3C_uc010mxo.2_Missense_Mutation_p.A373V|SH2D3C_uc004bry.2_Missense_Mutation_p.A375V|SH2D3C_uc004brz.3_Missense_Mutation_p.A179V|SH2D3C_uc011mak.1_Missense_Mutation_p.A179V|SH2D3C_uc004bsa.2_Missense_Mutation_p.A376V|SH2D3C_uc004bsb.2_Missense_Mutation_p.A465V NM_170600 NP_733745 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C isoform a 533 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity ovary(1) 1 CCCTTCAGGGGCCCCATTTTC 0.607 LRRC8A 56262 broad.mit.edu 37 9 131670129 131670129 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:131670129C>T uc004bwl.3 + 3 940 c.686C>T c.(685-687)ACG>ATG p.T229M LRRC8A_uc010myp.2_Missense_Mutation_p.T229M|LRRC8A_uc010myq.2_Missense_Mutation_p.T229M NM_019594 NP_062540 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member 229 pre-B cell differentiation integral to membrane 0 CGCTCAGAGACGGGCGTGCTG 0.602 NUP188 23511 broad.mit.edu 37 9 131755602 131755602 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:131755602A>G uc004bws.1 + 26 2789 c.2767A>G c.(2767-2769)ACT>GCT p.T923A NUP188_uc004bwu.2_Missense_Mutation_p.T266A NM_015354 NP_056169 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 923 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1) 7 AGAGTTCCTCACTGTTGCAGT 0.502 OREG0019527 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) FAM78A 286336 broad.mit.edu 37 9 134136213 134136213 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:134136213C>T uc004cak.2 - 2 1188 c.848G>A c.(847-849)CGG>CAG p.R283Q FAM78A_uc004caj.2_Missense_Mutation_p.R280Q NM_033387 NP_203745 Q5JUQ0 FA78A_HUMAN hypothetical protein LOC286336 283 ovary(1) 1 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267) TGGCTGTCACCGGTGCTTGGG 0.567 NTNG2 84628 broad.mit.edu 37 9 135073517 135073517 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:135073517G>A uc004cbh.2 + 3 1154 c.378G>A c.(376-378)TCG>TCA p.S126S NM_032536 NP_115925 Q96CW9 NTNG2_HUMAN netrin G2 precursor 126 Laminin N-terminal. axonogenesis anchored to plasma membrane 0 OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173) TCACCCTTTCGTGGAACAAGA 0.632 SARDH 1757 broad.mit.edu 37 9 136536721 136536721 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:136536721C>T uc004cep.3 - 18 2396 c.2262G>A c.(2260-2262)GCG>GCA p.A754A SARDH_uc004ceo.2_Silent_p.A754A|SARDH_uc011mdn.1_Silent_p.A754A|SARDH_uc011mdo.1_Silent_p.A586A|SARDH_uc004cen.2_Silent_p.A182A NM_001134707 NP_001128179 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase precursor 754 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity 0 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) GCTTGGCACCCGCGGCCATCA 0.662 VAV2 7410 broad.mit.edu 37 9 136660824 136660824 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:136660824C>A uc004ces.2 - 12 1113 c.1067G>T c.(1066-1068)AGG>ATG p.R356M VAV2_uc004cer.2_Missense_Mutation_p.R351M NM_001134398 NP_001127870 P52735 VAV2_HUMAN vav 2 guanine nucleotide exchange factor isoform 356 DH. angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol metal ion binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(3)|ovary(2)|lung(2)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) GAGCTGCTGCCTCTCAGGCCG 0.587 COL5A1 1289 broad.mit.edu 37 9 137674515 137674515 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:137674515T>C uc004cfe.2 + 29 2815 c.2433T>C c.(2431-2433)GGT>GGC p.G811G NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 811 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) ATATTCAGGGTGAAGACGGCT 0.577 FCN1 2219 broad.mit.edu 37 9 137803098 137803098 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:137803098C>T uc004cfi.2 - 8 706 c.614G>A c.(613-615)CGT>CAT p.R205H NM_002003 NP_001994 O00602 FCN1_HUMAN ficolin 1 precursor 205 Fibrinogen C-terminal. opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|receptor binding|sugar binding large_intestine(1)|ovary(1) 2 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07) CAGGTCTACACGGAGCTCGCT 0.488 LHX3 8022 broad.mit.edu 37 9 139092502 139092502 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:139092502G>A uc004cha.2 - 2 274 c.177C>T c.(175-177)AGC>AGT p.S59S LHX3_uc004cgz.2_Silent_p.S64S NM_178138 NP_835258 Q9UBR4 LHX3_HUMAN LIM homeobox protein 3 isoform a 59 LIM zinc-binding 1. inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 Myeloproliferative disorder(178;0.0511) Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07) TGTGGCAGTCGCTGCACTTGA 0.607 PMPCA 23203 broad.mit.edu 37 9 139310805 139310805 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:139310805C>T uc004chl.2 + 6 600 c.595C>T c.(595-597)CCT>TCT p.P199S PMPCA_uc011mdy.1_Missense_Mutation_p.P199S|PMPCA_uc010nbk.2_RNA|PMPCA_uc010nbl.2_Missense_Mutation_p.P99S|PMPCA_uc011mdz.1_Missense_Mutation_p.P68S|PMPCA_uc004chm.1_5'UTR|PMPCA_uc004chn.1_5'Flank NM_015160 NP_055975 Q10713 MPPA_HUMAN peptidase (mitochondrial processing) alpha 199 proteolysis mitochondrial inner membrane|mitochondrial matrix metalloendopeptidase activity|zinc ion binding 0 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05) GAACCTGCGGCCTGACCCAGA 0.562 INPP5E 56623 broad.mit.edu 37 9 139328514 139328514 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:139328514C>T uc004cho.2 - 3 1394 c.1009G>A c.(1009-1011)GGG>AGG p.G337R INPP5E_uc010nbm.2_Missense_Mutation_p.G337R NM_019892 NP_063945 Q9NRR6 INP5E_HUMAN inositol polyphosphate-5-phosphatase E 337 cilium axoneme|cytoskeleton|Golgi cisterna membrane inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity skin(1) 1 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05) TCCTGGACCCCGATGACATAC 0.672 LCN10 414332 broad.mit.edu 37 9 139635288 139635288 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:139635288G>A uc010nbq.2 - 3 495 c.436C>T c.(436-438)CAT>TAT p.H146Y LCN10_uc004civ.2_Missense_Mutation_p.H159Y|LCN10_uc011med.1_Intron|LCN10_uc011mee.1_Intron|LCN10_uc011mef.1_Intron|LCN10_uc004ciw.2_RNA Q6JVE6 LCN10_HUMAN SubName: Full=LCN10 protein; 146 transport extracellular region binding large_intestine(1) 1 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05) GCCTGCTCACGGAAGAGCAGC 0.368 C9orf139 401563 broad.mit.edu 37 9 139927540 139927540 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:139927540C>T uc004ckp.1 + 2 1539 c.25C>T c.(25-27)CCC>TCC p.P9S FUT7_uc004ckq.2_5'Flank NM_207511 NP_997394 Q6ZV77 CI139_HUMAN hypothetical protein LOC401563 9 0 all_cancers(76;0.0893) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493) TCACCCTGAGCCCCAGCCAAC 0.652 ANAPC2 29882 broad.mit.edu 37 9 140079368 140079368 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:140079368G>A uc004clr.1 - 4 1118 c.1045C>T c.(1045-1047)CGA>TGA p.R349* ANAPC2_uc004clq.1_Nonsense_Mutation_p.R208* NM_013366 NP_037498 Q9UJX6 ANC2_HUMAN anaphase-promoting complex subunit 2 349 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity anaphase-promoting complex|cytosol|nucleoplasm ubiquitin protein ligase binding|ubiquitin-protein ligase activity ovary(1) 1 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858) GGACCACCTCGGACGATGCTG 0.672 ENTPD8 377841 broad.mit.edu 37 9 140331728 140331728 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:140331728G>A uc004cmw.2 - 4 462 c.278C>T c.(277-279)GCA>GTA p.A93V C9orf167_uc011mew.1_Intron|ENTPD8_uc004cmx.2_Missense_Mutation_p.A93V|ENTPD8_uc004cmy.2_Missense_Mutation_p.A93V NM_001033113 NP_001028285 Q5MY95 ENTP8_HUMAN ectonucleoside triphosphate diphosphohydrolase 8 93 Extracellular (Potential). integral to membrane|plasma membrane ATP binding skin(1) 1 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898) ACCAGCCTGTGCAGCATTAGA 0.642 NELF 26012 broad.mit.edu 37 9 140347017 140347017 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:140347017C>T uc004cna.2 - 11 1385 c.1153G>A c.(1153-1155)GAG>AAG p.E385K C9orf167_uc011mew.1_Intron|NELF_uc011mex.1_Missense_Mutation_p.E182K|NELF_uc010nci.2_Missense_Mutation_p.E129K|NELF_uc011mey.1_RNA|NELF_uc011mez.1_Missense_Mutation_p.E362K|NELF_uc004cmz.2_Missense_Mutation_p.E383K|NELF_uc004cnc.2_Missense_Mutation_p.E360K|NELF_uc004cnb.2_Missense_Mutation_p.E355K NM_001130969 NP_001124441 Q6X4W1 NELF_HUMAN nasal embryonic LHRH factor isoform a 385 nucleus|plasma membrane 0 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888) AGGATGTCCTCGAAGGTTGCG 0.657 PNPLA7 375775 broad.mit.edu 37 9 140392668 140392668 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:140392668A>G uc004cnf.2 - 16 2049 c.1712T>C c.(1711-1713)CTG>CCG p.L571P C9orf167_uc011mew.1_Intron|PNPLA7_uc011mfa.1_Intron|PNPLA7_uc010ncj.1_Missense_Mutation_p.L596P NM_152286 NP_689499 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 571 cNMP 2. lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity skin(1) 1 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) CGCCACACCCAGGACGACGGT 0.637 EHMT1 79813 broad.mit.edu 37 9 140676805 140676805 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:140676805G>A uc011mfc.1 + 15 2375 c.2338G>A c.(2338-2340)GCG>ACG p.A780T EHMT1_uc004coa.2_Missense_Mutation_p.A780T|EHMT1_uc004cob.1_Missense_Mutation_p.A749T NM_024757 NP_079033 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 780 ANK 2. DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|pancreas(1) 3 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) ACTGCACGCCGCGGCAGAGGC 0.522 IL3RA 3563 broad.mit.edu 37 X 1471117 1471117 + Silent SNP C C T rs142385163 byFrequency TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:1471117C>T uc004cps.2 + 5 772 c.423C>T c.(421-423)AAC>AAT p.N141N IL3RA_uc011mhd.1_Silent_p.N63N NM_002183 NP_002174 P26951 IL3RA_HUMAN interleukin 3 receptor, alpha precursor 141 Extracellular (Potential). integral to membrane|plasma membrane interleukin-3 receptor activity skin(2)|lung(1) 3 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) TGTACTTGAACGTTGCCAAGT 0.647 SFRS17A 8227 broad.mit.edu 37 X 1712726 1712726 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:1712726G>A uc004cqa.2 + 2 567 c.371G>A c.(370-372)CGC>CAC p.R124H SFRS17A_uc010ncx.1_Missense_Mutation_p.R124H|SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_5'Flank NM_005088 NP_005079 Q02040 AK17A_HUMAN DNA segment on chromosome X and Y (unique) 155 124 B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction nuclear speck|spliceosomal complex nucleotide binding|protein binding|RNA binding 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TTCCCCACCCGCCACGACTGG 0.647 ARSD 414 broad.mit.edu 37 X 2825515 2825515 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:2825515G>A uc004cqy.2 - 10 1655 c.1579C>T c.(1579-1581)CGG>TGG p.R527W ARSD_uc004cqz.1_RNA NM_001669 NP_001660 P51689 ARSD_HUMAN arylsulfatase D isoform a precursor 527 lysosome arylsulfatase activity|metal ion binding 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GTCAGGGGCCGTGCCTCGGAG 0.687 MXRA5 25878 broad.mit.edu 37 X 3240641 3240641 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:3240641G>T uc004crg.3 - 5 3242 c.3085C>A c.(3085-3087)CCA>ACA p.P1029T NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 1029 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) GATTGGCCTGGGACACCTGGT 0.443 SHROOM2 357 broad.mit.edu 37 X 9914758 9914758 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:9914758C>T uc004csu.1 + 10 4722 c.4632C>T c.(4630-4632)GAC>GAT p.D1544D SHROOM2_uc004csv.2_Silent_p.D378D|SHROOM2_uc011mic.1_Silent_p.D379D|SHROOM2_uc004csw.1_Silent_p.D379D NM_001649 NP_001640 Q13796 SHRM2_HUMAN apical protein of Xenopus-like 1544 ASD2. apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 Hepatocellular(5;0.000888) AGCACGAGGACGCCAAGGAGC 0.557 FRMPD4 9758 broad.mit.edu 37 X 12722594 12722594 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:12722594C>T uc004cuz.1 + 11 1693 c.1187C>T c.(1186-1188)CCG>CTG p.P396L FRMPD4_uc011mij.1_Missense_Mutation_p.P388L NM_014728 NP_055543 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 396 FERM. positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1) 13 TTGGTACCACCGGGTAAAAAG 0.338 TLR8 51311 broad.mit.edu 37 X 12939203 12939203 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:12939203A>G uc004cve.2 + 2 2112 c.2044A>G c.(2044-2046)ACA>GCA p.T682A TLR8_uc004cvd.2_Missense_Mutation_p.T700A NM_138636 NP_619542 Q9NR97 TLR8_HUMAN toll-like receptor 8 precursor 682 Extracellular (Potential).|LRR 20. cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity ovary(4)|lung(2)|large_intestine(1) 7 TTTTAACTGGACATTACTCCA 0.378 ACE2 59272 broad.mit.edu 37 X 15607507 15607507 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:15607507C>T uc004cxa.1 - 5 824 c.656G>A c.(655-657)CGC>CAC p.R219H ACE2_uc004cxb.2_Missense_Mutation_p.R219H NM_021804 NP_068576 Q9BYF1 ACE2_HUMAN angiotensin I converting enzyme 2 precursor 219 Extracellular (Potential). R->D: No effect on interaction with SARS- CoV spike glycoprotein. angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding ovary(3) 3 Hepatocellular(33;0.183) Moexipril(DB00691) CAACTGGCCGCGGCTGTAGTC 0.423 CTPS2 56474 broad.mit.edu 37 X 16720886 16720886 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:16720886G>A uc004cxk.2 - 2 884 c.140C>T c.(139-141)GCT>GTT p.A47V CTPS2_uc004cxl.2_Missense_Mutation_p.A47V|CTPS2_uc004cxm.2_Missense_Mutation_p.A47V NM_001144002 NP_001137474 Q9NRF8 PYRG2_HUMAN cytidine triphosphate synthase II 47 glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process cytosol ATP binding|CTP synthase activity ovary(1) 1 Hepatocellular(33;0.0997) AAAAGTGCCAGCATCGATGTT 0.418 CDKL5 6792 broad.mit.edu 37 X 18622107 18622107 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:18622107C>T uc004cym.2 + 12 1316 c.1063C>T c.(1063-1065)CGG>TGG p.R355W CDKL5_uc004cyn.2_Missense_Mutation_p.R355W NM_003159 NP_003150 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 355 neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1) 6 Hepatocellular(33;0.183) AGGCCTGCCCCGGGCTGACGA 0.493 KLHL34 257240 broad.mit.edu 37 X 21674083 21674083 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:21674083C>T uc004czz.1 - 1 2366 c.1824G>A c.(1822-1824)GCG>GCA p.A608A NM_153270 NP_695002 Q8N239 KLH34_HUMAN kelch-like 34 608 Kelch 6. ovary(1) 1 CCCAGGGCAACGCGCAGCCGA 0.692 MAGEB6 158809 broad.mit.edu 37 X 26212473 26212473 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:26212473C>T uc004dbr.2 + 2 659 c.510C>T c.(508-510)GCC>GCT p.A170A MAGEB6_uc010ngc.1_5'UTR NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 170 ovary(3) 3 ATGTGGCTGCCGAGGGTGAAG 0.517 FAM47A 158724 broad.mit.edu 37 X 34149285 34149285 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:34149285G>A uc004ddg.2 - 1 1144 c.1111C>T c.(1111-1113)CGG>TGG p.R371W NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 371 ovary(4)|central_nervous_system(1) 5 CTGGACCCCCGACGAGTCTTG 0.642 FAM47B 170062 broad.mit.edu 37 X 34962859 34962859 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:34962859C>T uc004ddi.1 + 1 1929 c.1911C>T c.(1909-1911)GAC>GAT p.D637D NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 637 ovary(3)|breast(1) 4 ACAAAGAAGACGTCACAGATG 0.378 USP9X 8239 broad.mit.edu 37 X 40996215 40996215 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:40996215A>G uc004dfb.2 + 6 1227 c.594A>G c.(592-594)TCA>TCG p.S198S USP9X_uc004dfc.2_Silent_p.S198S NM_001039590 NP_001034679 Q93008 USP9X_HUMAN ubiquitin specific protease 9, X-linked isoform 198 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity lung(3)|breast(2)|ovary(1) 6 CAGTTTCCTCAAGTGTTCAGT 0.378 RGN 9104 broad.mit.edu 37 X 46943850 46943850 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:46943850C>T uc004dgz.1 + 4 1166 c.197C>T c.(196-198)TCG>TTG p.S66L RGN_uc004dha.1_Missense_Mutation_p.S66L|RGN_uc010nho.1_Missense_Mutation_p.S13L|RGN_uc010nhp.1_Missense_Mutation_p.S66L NM_152869 NP_690608 Q15493 RGN_HUMAN regucalcin 66 cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling cytoplasm|nucleus calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding 0 CTTCGCCAGTCGGGAGGCTAT 0.483 SSX5 6758 broad.mit.edu 37 X 48053565 48053565 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:48053565C>A uc004dja.1 - 4 333 c.280G>T c.(280-282)GTT>TTT p.V94F SSX5_uc004diz.1_Missense_Mutation_p.V135F NM_175723 NP_783729 O60225 SSX5_HUMAN synovial sarcoma, X breakpoint 5 isoform b 94 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding 0 ATCTACTCACCCTGATTCCCA 0.493 TBC1D25 4943 broad.mit.edu 37 X 48399811 48399811 + Nonsense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:48399811C>T uc004dka.1 + 2 325 c.214C>T c.(214-216)CGA>TGA p.R72* TBC1D25_uc011mly.1_5'UTR|TBC1D25_uc004dkb.1_5'UTR|TBC1D25_uc011mlz.1_Intron|TBC1D25_uc011mma.1_5'UTR|TBC1D25_uc004dkc.1_5'UTR|TBC1D25_uc011mmb.1_Nonsense_Mutation_p.R76*|TBC1D25_uc011mmc.1_5'UTR|TBC1D25_uc011mmd.1_5'UTR NM_002536 NP_002527 Q3MII6 TBC25_HUMAN TBC1 domain family, member 25 72 intracellular Rab GTPase activator activity ovary(1) 1 CATCCTCATCCGAGCCTTTGA 0.552 PQBP1 10084 broad.mit.edu 37 X 48759706 48759706 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:48759706C>T uc004dle.2 + 5 678 c.489C>T c.(487-489)CGC>CGT p.R163R PQBP1_uc004dlf.2_Silent_p.R163R|PQBP1_uc004dlg.2_Silent_p.R163R|PQBP1_uc004dld.2_Intron|PQBP1_uc004dlh.2_Silent_p.R163R|PQBP1_uc004dli.2_Silent_p.R163R|PQBP1_uc004dlj.1_Silent_p.R163R|PQBP1_uc004dln.2_Silent_p.R163R|PQBP1_uc010nih.2_RNA|PQBP1_uc010nii.2_Silent_p.R121R|PQBP1_uc004dlk.2_Intron|PQBP1_uc004dll.2_Intron|PQBP1_uc004dlm.2_Silent_p.R121R|PQBP1_uc010nij.2_Intron NM_001032382 NP_001027554 O60828 PQBP1_HUMAN polyglutamine binding protein 1 163 Arg-rich.|3-7.|7 X 2 AA tandem repeats of [DE]-R. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|transcription coactivator activity large_intestine(1) 1 ATCGGGACCGCGGGTATGACA 0.612 SYP 6855 broad.mit.edu 37 X 49049793 49049793 + Missense_Mutation SNP C C T rs150959416 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:49049793C>T uc004dmz.1 - 5 567 c.551G>A c.(550-552)CGC>CAC p.R184H SYP_uc011mmz.1_Missense_Mutation_p.R66H|SYP_uc004dna.1_Missense_Mutation_p.R178H NM_003179 NP_003170 P08247 SYPH_HUMAN synaptophysin 184 Vesicular (Potential).|MARVEL. regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization cell junction|integral to synaptic vesicle membrane|synaptosome calcium ion binding|cholesterol binding|transporter activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_lung(315;0.00016) CCCTGTCTGGCGGCAGACAGG 0.577 GPR173 54328 broad.mit.edu 37 X 53106173 53106173 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:53106173G>A uc004dru.2 + 2 628 c.370G>A c.(370-372)GCC>ACC p.A124T NM_018969 NP_061842 Q9NS66 GP173_HUMAN G protein-coupled receptor 173 124 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 CCGCTACATGGCCATCGCCCA 0.592 HUWE1 10075 broad.mit.edu 37 X 53587313 53587313 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:53587313G>A uc004dsp.2 - 56 7974 c.7572C>T c.(7570-7572)GAC>GAT p.D2524D HUWE1_uc004dsn.2_Silent_p.D1348D NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 2524 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 GAGAACTGTGGTCTGCATGGC 0.552 HUWE1 10075 broad.mit.edu 37 X 53589102 53589102 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:53589102C>T uc004dsp.2 - 54 7710 c.7308G>A c.(7306-7308)GAG>GAA p.E2436E HUWE1_uc004dsn.2_Silent_p.E1260E NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 2436 Asp-rich.|Glu-rich. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 cctcctcctcctcctcttcat 0.428 MAGED2 10916 broad.mit.edu 37 X 54841883 54841883 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:54841883G>A uc004dtk.1 + 12 1683 c.1589G>A c.(1588-1590)CGG>CAG p.R530Q MAGED2_uc004dtl.1_Missense_Mutation_p.R530Q|MAGED2_uc004dtm.1_Missense_Mutation_p.R445Q|MAGED2_uc010nkc.1_Intron|MAGED2_uc004dtn.1_Missense_Mutation_p.R530Q|MAGED2_uc004dto.1_Missense_Mutation_p.R504Q NM_177433 NP_803182 Q9UNF1 MAGD2_HUMAN melanoma antigen family D, 2 530 ovary(2)|breast(1) 3 GCCAAAGCCCGGATCCAGGCG 0.448 TRO 7216 broad.mit.edu 37 X 54957360 54957360 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:54957360C>T uc004dtq.2 + 12 4310 c.4203C>T c.(4201-4203)AAC>AAT p.N1401N TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_RNA|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Silent_p.N932N|TRO_uc004dtw.2_Silent_p.N1004N|TRO_uc004dtx.2_Silent_p.N784N NM_001039705 NP_001034794 Q12816 TROP_HUMAN trophinin isoform 5 1401 60; approximate.|62 X 10 AA approximate tandem repeats. embryo implantation|homophilic cell adhesion integral to plasma membrane ovary(1) 1 GTGGACCAAACACTGGTGCTG 0.617 USP51 158880 broad.mit.edu 37 X 55514444 55514444 + Missense_Mutation SNP C C G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:55514444C>G uc004dun.1 - 2 1008 c.929G>C c.(928-930)AGA>ACA p.R310T USP51_uc011moo.1_Intron NM_201286 NP_958443 Q70EK9 UBP51_HUMAN ubiquitin specific protease 51 310 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 AGTTAATAATCTCAAAATTTT 0.358 OPHN1 4983 broad.mit.edu 37 X 67293039 67293039 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:67293039G>A uc004dww.3 - 20 2083 c.1789C>T c.(1789-1791)CGA>TGA p.R597* OPHN1_uc011mpg.1_Nonsense_Mutation_p.R597* NM_002547 NP_002538 O60890 OPHN1_HUMAN oligophrenin 1 597 axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension axon|cell junction|cytosol|dendritic spine|synapse cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding ovary(2) 2 GTCCTTTCTCGCAGCAAGCGC 0.498 NLGN3 54413 broad.mit.edu 37 X 70389754 70389754 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:70389754G>A uc004dzb.2 + 7 2598 c.2294G>A c.(2293-2295)CGC>CAC p.R765H NLGN3_uc004dzc.2_Missense_Mutation_p.R648H|NLGN3_uc011mps.1_Missense_Mutation_p.R745H|NLGN3_uc004dze.2_Missense_Mutation_p.R583H NM_018977 NP_061850 Q9NZ94 NLGN3_HUMAN neuroligin 3 785 Cytoplasmic (Potential). neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity ovary(1) 1 Renal(35;0.156) GACACGCTGCGCCTCACTGCA 0.647 ACRC 93953 broad.mit.edu 37 X 70823624 70823624 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:70823624C>T uc004eae.2 + 8 998 c.497C>T c.(496-498)TCG>TTG p.S166L BCYRN1_uc011mpt.1_Intron NM_052957 NP_443189 Q96QF7 ACRC_HUMAN ACRC protein 166 Asp/Ser-rich. nucleus ovary(3) 3 Renal(35;0.156) AGTGATGATTCGGAAGCTCCC 0.498 HDAC8 55869 broad.mit.edu 37 X 71681927 71681927 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:71681927G>A uc004eau.2 - 9 974 c.932C>T c.(931-933)ACG>ATG p.T311M HDAC8_uc011mqe.1_Missense_Mutation_p.T168M|HDAC8_uc011mqf.1_Missense_Mutation_p.T116M|HDAC8_uc011mqg.1_Missense_Mutation_p.T220M NM_018486 NP_060956 Q9BY41 HDAC8_HUMAN histone deacetylase 8 311 Histone deacetylase. chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nuclear chromosome histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding 0 Renal(35;0.156) Vorinostat(DB02546) GCATCGAGCCGTGTTGGCAAG 0.478 ZCCHC13 389874 broad.mit.edu 37 X 73524363 73524363 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:73524363C>T uc004ebs.3 + 1 339 c.262C>T c.(262-264)CGC>TGC p.R88C NM_203303 NP_976048 Q8WW36 ZCH13_HUMAN zinc finger, CCHC domain containing 13 88 nucleic acid binding|zinc ion binding 0 ACGAGAGAGACGCCAACACTG 0.498 KIAA2022 340533 broad.mit.edu 37 X 73961202 73961202 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:73961202G>A uc004eby.2 - 3 3807 c.3190C>T c.(3190-3192)CGC>TGC p.R1064C NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 1064 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 GAAGAGTGGCGGAATTTGTCA 0.493 MAGEE1 57692 broad.mit.edu 37 X 75650737 75650737 + Missense_Mutation SNP T T G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:75650737T>G uc004ecm.1 + 1 2621 c.2414T>G c.(2413-2415)CTT>CGT p.L805R NM_020932 NP_065983 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 805 Interaction with DTNA (By similarity).|MAGE 2. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|ovary(1)|pancreas(1)|skin(1) 6 CTAGTGGTACTTGATCCCAGG 0.502 TBX22 50945 broad.mit.edu 37 X 79279656 79279656 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:79279656C>T uc010nmg.1 + 4 585 c.451C>T c.(451-453)CGC>TGC p.R151C TBX22_uc004edi.1_Missense_Mutation_p.R31C|TBX22_uc004edj.1_Missense_Mutation_p.R151C NM_001109878 NP_001103348 Q9Y458 TBX22_HUMAN T-box 22 isoform 1 151 T-box. multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1) 15 GGATTCCAAACGCTATAGGTA 0.527 BRWD3 254065 broad.mit.edu 37 X 79980463 79980463 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:79980463C>T uc004edt.2 - 15 1753 c.1490G>A c.(1489-1491)CGG>CAG p.R497Q BRWD3_uc004edo.2_Missense_Mutation_p.R93Q|BRWD3_uc004edp.2_Missense_Mutation_p.R326Q|BRWD3_uc004edq.2_Missense_Mutation_p.R93Q|BRWD3_uc010nmj.1_Missense_Mutation_p.R93Q|BRWD3_uc004edr.2_Missense_Mutation_p.R167Q|BRWD3_uc004eds.2_Missense_Mutation_p.R93Q|BRWD3_uc004edu.2_Missense_Mutation_p.R167Q|BRWD3_uc004edv.2_Missense_Mutation_p.R93Q|BRWD3_uc004edw.2_Missense_Mutation_p.R93Q|BRWD3_uc004edx.2_Missense_Mutation_p.R93Q|BRWD3_uc004edy.2_Missense_Mutation_p.R93Q|BRWD3_uc004edz.2_Missense_Mutation_p.R167Q|BRWD3_uc004eea.2_Missense_Mutation_p.R167Q|BRWD3_uc004eeb.2_Missense_Mutation_p.R93Q NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 497 WD 8. ovary(4) 4 TTTGGTCCCCCGGTCAAGGTC 0.373 POU3F4 5456 broad.mit.edu 37 X 82764299 82764299 + Missense_Mutation SNP C C T rs104894924 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:82764299C>T uc004eeg.2 + 1 1031 c.967C>T c.(967-969)CGT>TGT p.R323C NM_000307 NP_000298 P49335 PO3F4_HUMAN POU domain, class 3, transcription factor 4 323 Homeobox. R -> G (in DFNX2; somatic mosaicism in 50% of the peripheral blood lymphocytes). sensory perception of sound nucleus sequence-specific DNA binding transcription factor activity ovary(1) 1 GGAAGTGGTGCGTGTCTGGTT 0.542 NAP1L3 4675 broad.mit.edu 37 X 92927271 92927271 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:92927271G>T uc004efq.2 - 1 1338 c.1033C>A c.(1033-1035)CTG>ATG p.L345M FAM133A_uc004efr.1_5'Flank NM_004538 NP_004529 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 345 nucleosome assembly chromatin assembly complex ovary(1)|skin(1) 2 GAGAACTTCAGGCTAACATCC 0.413 PCDH19 57526 broad.mit.edu 37 X 99551449 99551449 + Silent SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:99551449G>T uc010nmz.2 - 6 4949 c.3273C>A c.(3271-3273)GCC>GCA p.A1091A PCDH19_uc004efw.3_Silent_p.A1043A|PCDH19_uc004efx.3_Silent_p.A1044A NM_020766 NP_001098713 Q8TAB3 PCD19_HUMAN protocadherin 19 isoform b 1091 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 7 CCAGATCACGGGCTGGGGGAG 0.582 XKRX 402415 broad.mit.edu 37 X 100169452 100169452 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:100169452G>A uc004egn.2 - 3 1830 c.1225C>T c.(1225-1227)CGC>TGC p.R409C XKRX_uc011mre.1_Missense_Mutation_p.R205C NM_212559 NP_997724 Q6PP77 XKR2_HUMAN XK, Kell blood group complex subunit-related, 409 integral to membrane|plasma membrane breast(1) 1 AAGAGTGAGCGCAATGGATGC 0.468 CENPI 2491 broad.mit.edu 37 X 100387216 100387216 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:100387216G>A uc004egx.2 + 13 1595 c.1325G>A c.(1324-1326)AGC>AAC p.S442N CENPI_uc011mrg.1_Missense_Mutation_p.S442N|CENPI_uc004egy.2_Missense_Mutation_p.S442N NM_006733 NP_006724 Q92674 CENPI_HUMAN centromere protein I 442 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase cytosol|kinetochore|nucleoplasm protein binding skin(1) 1 CTGTATAAGAGCCTTCCTCTC 0.398 HNRNPH2 3188 broad.mit.edu 37 X 100667790 100667790 + Missense_Mutation SNP T T G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:100667790T>G uc004ehm.2 + 2 984 c.814T>G c.(814-816)TCT>GCT p.S272A HNRNPH2_uc004ehn.2_Missense_Mutation_p.S272A NM_019597 NP_062543 P55795 HNRH2_HUMAN heterogeneous nuclear ribonucleoprotein H2 272 2 X 16 AA Gly-rich approximate repeats. nuclear mRNA splicing, via spliceosome actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding 0 TTCAGGAATGTCTGATCATAG 0.453 NXF5 55998 broad.mit.edu 37 X 101095488 101095488 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:101095488G>A uc011mrk.1 - 10 1041 c.681C>T c.(679-681)GAC>GAT p.D227D NXF5_uc004eih.1_RNA|NXF5_uc004eii.1_RNA|NXF5_uc004eij.1_RNA|NXF5_uc004eik.1_RNA|NXF5_uc004eil.1_RNA NM_032946 NP_116564 Q9H1B4 NXF5_HUMAN nuclear RNA export factor 5 227 LRR 3. mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding central_nervous_system(1) 1 AGGCAGACTGGTCCGAGAAGG 0.577 ZMAT1 84460 broad.mit.edu 37 X 101138866 101138866 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:101138866G>A uc004eim.2 - 2 4518 c.1020C>T c.(1018-1020)TAC>TAT p.Y340Y ZMAT1_uc011mrl.1_Silent_p.Y511Y|ZMAT1_uc004ein.2_Silent_p.Y340Y|ZMAT1_uc011mrm.1_Silent_p.Y340Y NM_032441 NP_115817 Q5H9K5 ZMAT1_HUMAN zinc finger, matrin type 1 isoform 3 340 nucleus zinc ion binding ovary(1) 1 ATTCTACACTGTATGAGCCAG 0.408 FAM199X 139231 broad.mit.edu 37 X 103434329 103434329 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:103434329G>A uc004elw.2 + 6 1203 c.1037G>A c.(1036-1038)CGC>CAC p.R346H FAM199X_uc004elx.2_Missense_Mutation_p.R120H NM_207318 NP_997201 Q6PEV8 F199X_HUMAN hypothetical protein LOC139231 346 ovary(1) 1 AAGGCCTTCCGCAAGAGGCAG 0.488 NRK 203447 broad.mit.edu 37 X 105153047 105153047 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:105153047C>T uc004emd.2 + 13 1717 c.1414C>T c.(1414-1416)CGG>TGG p.R472W NRK_uc010npc.1_Missense_Mutation_p.R140W NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 472 Gln-rich. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 TCCACGACTACGGAGGGCAGC 0.557 HNSCC(51;0.14) CXorf57 55086 broad.mit.edu 37 X 105865880 105865880 + Splice_Site SNP G G C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:105865880G>C uc004emi.3 + 2 795 c.644_splice c.e2-1 p.D215_splice CXorf57_uc004emj.3_Splice_Site_p.D215_splice|CXorf57_uc004emh.2_Splice_Site_p.D215_splice NM_018015 NP_060485 Q6NSI4 CX057_HUMAN hypothetical protein LOC55086 ovary(1)|lung(1)|breast(1) 3 TTATATTCTAGATACCAAAAT 0.308 IRS4 8471 broad.mit.edu 37 X 107978724 107978724 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:107978724C>T uc004eoc.2 - 1 884 c.851G>A c.(850-852)CGC>CAC p.R284H NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 284 IRS-type PTB. plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 GTGTCCACAGCGACGGATGCT 0.592 CHRDL1 91851 broad.mit.edu 37 X 109964646 109964646 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:109964646C>T uc004eou.3 - 5 763 c.414G>A c.(412-414)CGG>CGA p.R138R CHRDL1_uc004eov.2_Silent_p.R132R|CHRDL1_uc004eow.2_Silent_p.R137R|CHRDL1_uc010nps.2_Silent_p.R137R|CHRDL1_uc004eot.2_Intron|CHRDL1_uc011mss.1_Intron|CHRDL1_uc004eox.3_Silent_p.R131R NM_001143981 NP_001137453 Q9BU40 CRDL1_HUMAN chordin-like 1 isoform 1 precursor 131 VWFC 2. BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region 0 GATTGGGTTGCCGATTCTGAA 0.483 ALG13 79868 broad.mit.edu 37 X 110954936 110954936 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:110954936C>T uc011msy.1 + 6 902 c.868C>T c.(868-870)CGG>TGG p.R290W ALG13_uc011msw.1_Missense_Mutation_p.R212W|ALG13_uc011msx.1_Missense_Mutation_p.R186W|ALG13_uc011msz.1_Missense_Mutation_p.R212W|ALG13_uc011mta.1_Missense_Mutation_p.R186W|ALG13_uc011mtb.1_Missense_Mutation_p.R186W Q9NP73 ALG13_HUMAN SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae); 290 OTU. dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity lung(1) 1 ATACCTGGAACGGTTGGGAGA 0.308 TRPC5 7224 broad.mit.edu 37 X 111090440 111090440 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:111090440T>C uc004epl.1 - 6 2521 c.1602A>G c.(1600-1602)GGA>GGG p.G534G TRPC5_uc004epm.1_Silent_p.G534G NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 534 Extracellular (Potential). axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 GCTGGTTCAGTCCATTGGCAA 0.458 HTR2C 3358 broad.mit.edu 37 X 113965896 113965896 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:113965896G>T uc004epu.1 + 4 957 c.229G>T c.(229-231)GCA>TCA p.A77S HTR2C_uc010nqc.1_Missense_Mutation_p.A77S|HTR2C_uc004epv.1_Missense_Mutation_p.A77S NM_000868 NP_000859 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C 77 Helical; Name=1; (By similarity). cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity ovary(3) 3 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) TGTGATCATGGCAGTAAGCAT 0.448 LRCH2 57631 broad.mit.edu 37 X 114419019 114419019 + Silent SNP T T A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:114419019T>A uc010nqe.2 - 3 607 c.576A>T c.(574-576)GTA>GTT p.V192V LRCH2_uc004epz.2_Silent_p.V192V NM_020871 NP_065922 Q5VUJ6 LRCH2_HUMAN leucine-rich repeats and calponin homology (CH) 192 LRR 5. ovary(1) 1 CTGGAATGGATACCAGTTTAT 0.303 LRCH2 57631 broad.mit.edu 37 X 114422934 114422934 + Splice_Site SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:114422934C>T uc010nqe.2 - 2 381 c.350_splice c.e2-1 p.D117_splice LRCH2_uc004epz.2_Splice_Site_p.D117_splice|RBMXL3_uc011mte.1_5'Flank NM_020871 NP_065922 Q5VUJ6 LRCH2_HUMAN leucine-rich repeats and calponin homology (CH) ovary(1) 1 CTGGAAAGATCTGAAAAGAAA 0.299 FAM70A 55026 broad.mit.edu 37 X 119419025 119419025 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:119419025G>A uc004eso.3 - 7 768 c.541C>T c.(541-543)CGG>TGG p.R181W FAM70A_uc004esp.3_Missense_Mutation_p.R157W|FAM70A_uc010nqo.2_Intron NM_017938 NP_060408 Q5JRV8 FA70A_HUMAN hypothetical protein LOC55026 isoform 1 181 integral to membrane lung(1)|breast(1) 2 GTGTTGCCCCGGATGCGAGGT 0.527 SASH3 54440 broad.mit.edu 37 X 128924995 128924995 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:128924995C>T uc011mun.1 + 4 562 c.380C>T c.(379-381)GCG>GTG p.A127V SASH3_uc004euu.2_Missense_Mutation_p.A127V|SASH3_uc011muo.1_Missense_Mutation_p.A44V NM_018990 NP_061863 O75995 SASH3_HUMAN SAM and SH3 domain containing 3 127 ovary(2)|pancreas(1) 3 GAGAAGATGGCGCTGGCCTTT 0.627 ARHGAP36 158763 broad.mit.edu 37 X 130222706 130222706 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:130222706C>T uc004evz.2 + 12 1936 c.1591C>T c.(1591-1593)CGT>TGT p.R531C ARHGAP36_uc004ewa.2_Missense_Mutation_p.R519C|ARHGAP36_uc004ewb.2_Missense_Mutation_p.R500C|ARHGAP36_uc004ewc.2_Missense_Mutation_p.R395C NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN hypothetical protein LOC158763 precursor 531 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3) 3 CCCATTGCTCCGTGTGCCCCG 0.582 GPC4 2239 broad.mit.edu 37 X 132445391 132445391 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:132445391G>A uc004exc.1 - 4 984 c.772C>T c.(772-774)CGG>TGG p.R258W GPC4_uc011mvg.1_Missense_Mutation_p.R188W NM_001448 NP_001439 O75487 GPC4_HUMAN glypican 4 precursor 258 anatomical structure morphogenesis|cell proliferation anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding 0 Acute lymphoblastic leukemia(192;0.000127) ACGAGACCCCGGCAGTGGGAG 0.483 FAM127A 8933 broad.mit.edu 37 X 134166473 134166473 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:134166473G>A uc004eyd.2 + 1 141 c.60G>A c.(58-60)ACG>ACA p.T20T uc004eye.1_RNA NM_001078171 NP_001071639 A6ZKI3 F127A_HUMAN family with sequence similarity 127, member A 20 0 Acute lymphoblastic leukemia(192;0.000127) GGCCTGCGACGCGTCGCTGGA 0.642 SAGE1 55511 broad.mit.edu 37 X 134989148 134989148 + Missense_Mutation SNP A A C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:134989148A>C uc004ezh.2 + 8 967 c.800A>C c.(799-801)AAC>ACC p.N267T SAGE1_uc010nry.1_Missense_Mutation_p.N236T|SAGE1_uc011mvv.1_Intron NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 267 ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(192;0.000127) CAACCTGATAACATCTTGTCA 0.463 MMGT1 93380 broad.mit.edu 37 X 135047268 135047268 + Missense_Mutation SNP G G A rs150859420 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:135047268G>A uc004ezi.1 - 4 611 c.311C>T c.(310-312)TCG>TTG p.S104L MMGT1_uc011mvw.1_Missense_Mutation_p.S169L NM_173470 NP_775741 Q8N4V1 MMGT1_HUMAN membrane magnesium transporter 1 precursor 104 Cytoplasmic (Potential). early endosome membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane magnesium ion transmembrane transporter activity 0 TGCTGTATCCGAAGGCCGGAA 0.358 ARHGEF6 9459 broad.mit.edu 37 X 135751673 135751673 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:135751673C>T uc004fab.2 - 21 2620 c.2158G>A c.(2158-2160)GCC>ACC p.A720T ARHGEF6_uc011mwd.1_Missense_Mutation_p.A593T|ARHGEF6_uc011mwe.1_Missense_Mutation_p.A566T NM_004840 NP_004831 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor 6 720 apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity 0 Acute lymphoblastic leukemia(192;0.000127) TCCTTCAAGGCGTAAACAGTA 0.368 FGF13 2258 broad.mit.edu 37 X 137793063 137793063 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:137793063T>C uc004fam.2 - 1 765 c.103A>G c.(103-105)AAG>GAG p.K35E FGF13_uc004fan.2_Intron|FGF13_uc011mwi.1_Intron|FGF13_uc004faq.2_Intron|FGF13_uc004far.2_Intron|FGF13_uc011mwj.1_Intron|FGF13_uc011mwk.1_Intron|uc004fao.2_5'Flank NM_004114 NP_004105 Q92913 FGF13_HUMAN fibroblast growth factor 13 isoform 1 35 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) CAGCTGGTCTTGCCTTTGCTG 0.567 SPANXC 64663 broad.mit.edu 37 X 140335784 140335784 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:140335784G>A uc004fbk.2 - 2 216 c.160C>T c.(160-162)CGC>TGC p.R54C SPANXC_uc004fbl.2_RNA NM_022661 NP_073152 Q9NY87 SPNXC_HUMAN sperm protein associated with the nucleus, X 54 cytoplasm|nucleus 0 Acute lymphoblastic leukemia(192;7.65e-05) CTCCTGTAGCGAACCACTAGT 0.498 SPANXN3 139067 broad.mit.edu 37 X 142605183 142605183 + Missense_Mutation SNP T T A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:142605183T>A uc004fbw.2 - 1 125 c.37A>T c.(37-39)ACG>TCG p.T13S NM_001009609 NP_001009609 Q5MJ09 SPXN3_HUMAN SPANX-N3 protein 13 ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) GGGCTCTTCGTCTTCTCCCCA 0.328 CXorf1 9142 broad.mit.edu 37 X 144909328 144909328 + Missense_Mutation SNP T T G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:144909328T>G uc004fch.2 + 1 401 c.133T>G c.(133-135)TTA>GTA p.L45V NM_004709 NP_004700 O96002 CX001_HUMAN hypothetical protein LOC9142 45 0 Acute lymphoblastic leukemia(192;6.56e-05) CTGTTTTGCTTTATCTGCTCA 0.294 ATP2B3 492 broad.mit.edu 37 X 152813442 152813442 + Nonsense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:152813442C>T uc004fht.1 + 7 1234 c.1108C>T c.(1108-1110)CAG>TAG p.Q370* ATP2B3_uc004fhs.1_Nonsense_Mutation_p.Q370* NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN plasma membrane calcium ATPase 3 isoform 3b 370 Helical; (Potential). ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCTAGCCGTGCAGATCGGGAA 0.607 SRPK3 26576 broad.mit.edu 37 X 153047269 153047269 + Missense_Mutation SNP T T A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:153047269T>A uc004fil.2 + 4 403 c.371T>A c.(370-372)ATC>AAC p.I124N SRPK3_uc004fik.2_Missense_Mutation_p.I190N|SRPK3_uc010nul.2_Missense_Mutation_p.I82N|SRPK3_uc004fin.2_Missense_Mutation_p.I124N|SRPK3_uc004fim.2_Missense_Mutation_p.I124N NM_014370 NP_055185 Q9UPE1 SRPK3_HUMAN serine arginine rich protein-specific kinase 3 124 Protein kinase. cell differentiation|muscle organ development|muscle tissue development ATP binding|protein serine/threonine kinase activity pancreas(2)|lung(1) 3 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) GTGGATGAGATCAAGCTCCTG 0.617 L1CAM 3897 broad.mit.edu 37 X 153128277 153128277 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:153128277G>A uc004fjb.2 - 28 3723 c.3615C>T c.(3613-3615)GAC>GAT p.D1205D L1CAM_uc004fjc.2_Silent_p.D1201D|L1CAM_uc010nuo.2_Silent_p.D1196D NM_000425 NP_000416 P32004 L1CAM_HUMAN L1 cell adhesion molecule isoform 1 precursor 1205 Cytoplasmic (Potential). axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane ovary(8)|central_nervous_system(1) 9 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCAGGCTGTCGTCACTGCCCA 0.602 RENBP 5973 broad.mit.edu 37 X 153207102 153207102 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:153207102G>A uc004fjo.1 - 8 944 c.774C>T c.(772-774)CAC>CAT p.H258H RENBP_uc011mzh.1_Missense_Mutation_p.T231I NM_002910 NP_002901 P51606 RENBP_HUMAN renin binding protein 258 mannose metabolic process|regulation of blood pressure endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity ovary(1)|pancreas(1) 2 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) N-Acetyl-D-glucosamine(DB00141) CTTCCAGCGTGTGGCCTGGTG 0.627 FLNA 2316 broad.mit.edu 37 X 153581719 153581719 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:153581719C>T uc004fkk.2 - 37 6216 c.5967G>A c.(5965-5967)CCG>CCA p.P1989P FLNA_uc004fki.2_Silent_p.P32P|FLNA_uc011mzn.1_Silent_p.P122P|FLNA_uc010nuu.1_Silent_p.P1981P NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 1989 Filamin 18. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GGCCCGAGGGCGGGACCACAG 0.627 GDI1 2664 broad.mit.edu 37 X 153669509 153669509 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:153669509C>T uc004fli.3 + 7 1128 c.786C>T c.(784-786)AAC>AAT p.N262N GDI1_uc011mzo.1_3'UTR|GDI1_uc004flj.2_5'Flank|FAM50A_uc004fll.3_5'Flank NM_001493 NP_001484 P31150 GDIA_HUMAN GDP dissociation inhibitor 1 262 protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|midbody GTPase activator activity|protein binding 0 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TCATGGAGAACGGCAAGGTGG 0.572 FAM50A 9130 broad.mit.edu 37 X 153678623 153678623 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:153678623C>T uc004fll.3 + 12 1065 c.967C>T c.(967-969)CGC>TGC p.R323C NM_004699 NP_004690 Q14320 FA50A_HUMAN XAP-5 protein 323 spermatogenesis nucleus ovary(1) 1 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TCCCGCCAGCCGCTGGGAACC 0.627 PLXNA3 55558 broad.mit.edu 37 X 153689602 153689602 + Missense_Mutation SNP C C T rs147390702 byFrequency TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:153689602C>T uc004flm.2 + 3 931 c.758C>T c.(757-759)GCG>GTG p.A253V NM_017514 NP_059984 P51805 PLXA3_HUMAN plexin A3 precursor 253 Sema.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TTGGACACAGCGGGCGAGAAA 0.577 LAGE3 8270 broad.mit.edu 37 X 153706395 153706395 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:153706395C>T uc004fln.1 - 3 662 c.320G>A c.(319-321)CGC>CAC p.R107H NM_006014 NP_006005 Q14657 LAGE3_HUMAN L antigen family, member 3 107 protein binding 0 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AGCTTTCCAGCGGCTAAAAGT 0.562 RAB39B 116442 broad.mit.edu 37 X 154490449 154490449 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:154490449C>T uc004fne.2 - 2 560 c.281G>A c.(280-282)CGC>CAC p.R94H NM_171998 NP_741995 Q96DA2 RB39B_HUMAN RAB39B, member RAS oncogene family 94 protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport Golgi apparatus|plasma membrane GTP binding 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GAAGGACCTGCGGTTGGTAAT 0.448 GPR64 10149 broad.mit.edu 37 X 19046358 19046359 + Splice_Site INS - - A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:19046358_19046359insA uc004cyx.2 - 10 523 c.359_splice c.e10-1 p.A120_splice GPR64_uc004cyy.2_Splice_Site_p.A117_splice|GPR64_uc004cyz.2_Splice_Site_p.A106_splice|GPR64_uc004czb.2_Splice_Site_p.A120_splice|GPR64_uc004czc.2_Splice_Site_p.A104_splice|GPR64_uc004czd.2_Splice_Site_p.A96_splice|GPR64_uc004cze.2_Splice_Site_p.A90_splice|GPR64_uc004czf.2_Splice_Site_p.A82_splice|GPR64_uc004cza.2_Splice_Site_p.A98_splice|GPR64_uc004cyw.2_Splice_Site_p.A104_splice|GPR64_uc010nfj.2_Splice_Site_p.A90_splice NM_001079858 NP_001073327 Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 isoform 1 neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity 0 Hepatocellular(33;0.183) TAAAAAATGCTAAAAATAAATT 0.262 C2orf42 54980 broad.mit.edu 37 2 70406777 70406777 + Splice_Site DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:70406776_70406776TA>T uc002sgh.3 - 4 1152 c.824_splice c.e4-1 p.G275_splice NM_017880 NP_060350 Q9NWW7 CB042_HUMAN Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA. 275 endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 12 CTTTAAGACCTAAAAAAAAGA 0.353 SCRN3 79634 broad.mit.edu 37 2 175263005 175263005 + Splice_Site DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:175263004_175263004TA>T uc002uiq.3 + 2 90 c.-8_splice c.e2-1 CIR1_uc002uim.3_5'Flank|CIR1_uc002uin.3_5'Flank|SCRN3_uc010zen.2_Intron|SCRN3_uc010zeo.2_Splice_Site|SCRN3_uc002uir.1_Splice_Site NM_024583 NP_078859 Q0VDG4 SCRN3_HUMAN Homo sapiens secernin 3 (SCRN3), transcript variant 1, mRNA. proteolysis dipeptidase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3) 13 OV - Ovarian serous cystadenocarcinoma(117;0.229) AATTTTTAGTTAAAAAAAATG 0.279 GTF3C3 9330 broad.mit.edu 37 2 197650315 197650315 + Splice_Site DEL A A - rs35643383 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:197650314_197650314TA>T uc002uts.3 - 7 1051 c.894_splice c.e7-1 p.K298_splice GTF3C3_uc010zgu.2_Splice_Site_p.K298_splice|GTF3C3_uc002utu.3_Splice_Site_p.K298_splice|GTF3C3_uc002utt.4_Splice_Site NM_012086 NP_036218 Q9Y5Q9 TF3C3_HUMAN Homo sapiens general transcription factor IIIC, polypeptide 3, 102kDa (GTF3C3), transcript variant 1, mRNA. 298 transcription factor TFIIIC complex DNA binding|protein binding breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 TAGTAACTCCTAAAAAAAAGT 0.323 ERBB4 2066 broad.mit.edu 37 2 212288881 212288882 + Splice_Site INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:212288880_212288881A>AT uc002veg.1 - 23 2964 c.2866_splice c.e23+1 p.C956_splice ERBB4_uc002veh.1_Splice_Site_p.C956_splice|ERBB4_uc010zji.1_Splice_Site_p.C946_splice|ERBB4_uc010zjj.1_Splice_Site_p.C946_splice NM_005235 NP_005226 Q15303 ERBB4_HUMAN Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA. 956 Protein kinase. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) GCAGTCTTACATTTGACCATGA 0.366 TSP Lung(8;0.080) SCN11A 11280 broad.mit.edu 37 3 38949441 38949442 + Splice_Site INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:38949440_38949441C>CT uc021wvy.1 - 10 1672 c.1473_splice c.e10+1 p.K491_splice NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 491 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) AAAGACTTACCTTTTTTTGGCA 0.386 FYB 2533 broad.mit.edu 37 5 39124357 39124358 + Splice_Site INS - - A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:39124356_39124357C>CA uc003jls.3 - 11 2000 c.1933_splice c.e11+1 p.D645_splice FYB_uc003jlt.3_Splice_Site_p.D691_splice|FYB_uc003jlu.3_Splice_Site_p.D645_splice|FYB_uc011cpl.2_Splice_Site_p.D701_splice NM_199335 NP_955367 O15117 FYB_HUMAN Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA. 645 NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) ATTACTTACCCAATTGTTTAGG 0.351 LARS 51520 broad.mit.edu 37 5 145508683 145508683 + Splice_Site DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:145508682_145508682CT>C uc003lnx.1 - 26 2867 c.2629_splice c.e26-1 p.P877_splice LARS_uc003lnw.1_Splice_Site_p.P35_splice|LARS_uc011dbq.1_Splice_Site_p.P831_splice|LARS_uc011dbr.1_Splice_Site_p.P823_splice|LARS_uc011dbs.1_Splice_Site_p.P850_splice NM_020117 NP_064502 Q9P2J5 SYLC_HUMAN Homo sapiens leucyl-tRNA synthetase (LARS), mRNA. 877 leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8) 34 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) TTGAGTCAGGCTTTTAAAAAA 0.333 DTNBP1 84062 broad.mit.edu 37 6 15638038 15638038 + Splice_Site DEL A A - rs140124163 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:15638037_15638037TA>T uc003nbm.3 - 4 351 c.162_splice c.e4-1 p.R54_splice DTNBP1_uc003nbl.3_Splice_Site|DTNBP1_uc010jph.3_Splice_Site_p.R41_splice|DTNBP1_uc003nbp.3_Splice_Site_p.R54_splice NM_032122 NP_115498 Q96EV8 DTBP1_HUMAN Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA. 54 actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway BLOC-1 complex|axon part|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome identical protein binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2) 14 Breast(50;0.0289)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.211) TCCTCATACCTAAAAAAAAGC 0.363 Hermansky-Pudlak syndrome C9orf11 54586 broad.mit.edu 37 9 27296739 27296739 + Splice_Site DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:27296738_27296738TA>T uc003zql.3 - 2 161 c.77_splice c.e2-1 p.A26_splice C9orf11_uc011lnq.2_Splice_Site_p.A26_splice|C9orf11_uc003zqm.3_Splice_Site_p.A26_splice NM_020641 NP_065692 Q9NQ60 AFAF_HUMAN Homo sapiens chromosome 9 open reading frame 11 (C9orf11), transcript variant 1, mRNA. 26 acrosomal membrane|integral to membrane breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 17 OV - Ovarian serous cystadenocarcinoma(39;7.39e-08)|Lung(218;1.26e-05)|LUSC - Lung squamous cell carcinoma(38;0.000106) TAGGCAATGCTAAAAAAAAGT 0.323 RNF38 152006 broad.mit.edu 37 9 36342424 36342424 + Splice_Site DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:36342423_36342423TA>T uc003zzh.3 - 11 1577 c.1386_splice c.e11-1 p.L462_splice RNF38_uc003zzi.3_Splice_Site_p.L412_splice|RNF38_uc003zzj.3_Splice_Site_p.L379_splice|RNF38_uc003zzk.3_Splice_Site_p.L379_splice|RNF38_uc003zzl.3_Splice_Site_p.L386_splice|RNF38_uc003zzm.3_Splice_Site_p.L379_splice NM_022781 NP_919313 Q9H0F5 RNF38_HUMAN Homo sapiens ring finger protein 38 (RNF38), transcript variant 1, mRNA. 462 zinc ion binding breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1) 11 STAD - Stomach adenocarcinoma(86;0.228) ACTACACACCTAAAAAAAGCA 0.358 FUBP3 8939 broad.mit.edu 37 9 133506014 133506015 + Splice_Site INS - - G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:133506013_133506014A>AG uc004bzr.1 + 13 1226 c.1118_splice c.e13-1 p.G373_splice NM_003934 NP_003925 Q96I24 FUBP3_HUMAN Homo sapiens far upstream element (FUSE) binding protein 3 (FUBP3), mRNA. 373 KH 4. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|RNA binding|protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2) 21 OV - Ovarian serous cystadenocarcinoma(145;0.000279) TGCTGTCCGCAGGGGGTGAGAA 0.589 KIN 22944 broad.mit.edu 37 10 7817765 7817765 + Splice_Site DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:7817764_7817764TA>T uc001ijt.3 - 6 653 c.559_splice c.e6-1 p.E187_splice KIN_uc010qaz.2_Splice_Site|KIN_uc010qba.2_Splice_Site_p.E81_splice NM_012311 NP_036443 O60870 KIN17_HUMAN Homo sapiens KIN, antigenic determinant of recA protein homolog (mouse) (KIN), transcript variant 1, mRNA. 187 DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing cytoplasm|nuclear matrix RNA binding|double-stranded DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2) 19 AGGGACCTCCTAAAAAAAAGA 0.318 TALDO1 6888 broad.mit.edu 37 11 755877 755885 + Splice_Site DEL AGCCATCGA AGCCATCGA - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:755876_755884TAGCCATCGA>T uc001lqz.3 + 2 148 c.98_splice c.e2-1 p.A33_splice TALDO1_uc010qwl.2_Splice_Site_p.A33_splice|TALDO1_uc001lra.3_Splice_Site_p.A33_splice NM_006755 NP_006746 P37837 TALDO_HUMAN Homo sapiens transaldolase 1 (TALDO1), mRNA. 33 energy reserve metabolic process|xylulose biosynthetic process cytosol protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2) 14 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712) ACTATTTCCCTAGCCATCGACGAGTACAA 0.541 ATL3 25923 broad.mit.edu 37 11 63420050 63420050 + Splice_Site DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:63420049_63420049TA>T uc001nxk.1 - 4 682 c.406_splice c.e4-1 p.V136_splice ATL3_uc010rms.1_Splice_Site_p.V118_splice NM_015459 NP_056274 Q6DD88 ATLA3_HUMAN Homo sapiens atlastin GTPase 3 (ATL3), mRNA. 136 Golgi organization|endoplasmic reticulum organization|protein homooligomerization endoplasmic reticulum membrane|integral to membrane GTP binding|GTPase activity|identical protein binding endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 11 AACTGCAACCTAAAAAAAAGG 0.373 DDX6 1656 broad.mit.edu 37 11 118629614 118629614 + Splice_Site DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:118629613_118629613TG>T uc001pub.2 - 9 1226 c.865_splice c.e9-1 p.N289_splice DDX6_uc001pua.2_5'UTR|DDX6_uc001puc.2_Splice_Site_p.N289_splice NM_004397 NP_004388 P26196 DDX6_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA. 289 Helicase ATP-binding. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|stress granule ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|protein binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 13 all_hematologic(175;0.0839) Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103) OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377) ATGGGAATTCTGGGGGGGGAG 0.423 T IGH@ B-NHL PXN 5829 broad.mit.edu 37 12 120657167 120657168 + RNA INS - - C rs61741284 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:120657166_120657167T>TC uc001tya.3 - 0 c.754_755A>GA PXN_uc001txu.3_5'Flank|PXN_uc001txx.3_Intron|PXN_uc001txt.3_Intron|PXN_uc001txv.3_Intron|PXN_uc001txy.3_Intron|PXN_uc001txz.3_Non-coding_Transcript P49023 PAXI_HUMAN Homo sapiens cDNA: FLJ23042 fis, clone LNG02323. cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly cytoplasm|focal adhesion|lamellipodium|microtubule associated complex beta-catenin binding|vinculin binding|zinc ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGGCCACACTTCCCCTCTCGGT 0.634 HERC2 8924 broad.mit.edu 37 15 28366578 28366578 + Splice_Site DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:28366577_28366577TA>T uc001zbj.3 - 86 13295 c.13189_splice c.e86-1 p.E4397_splice NM_004667 NP_004658 O95714 HERC2_HUMAN Homo sapiens hect domain and RLD 2 (HERC2), mRNA. 4397 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) AGCCGCCTCCTAAAACACATC 0.438 HERC2 8924 broad.mit.edu 37 15 28463820 28463820 + Splice_Site DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:28463819_28463819TA>T uc001zbj.3 - 38 5952 c.5846_splice c.e38-1 p.E1949_splice NM_004667 NP_004658 O95714 HERC2_HUMAN Homo sapiens hect domain and RLD 2 (HERC2), mRNA. 1949 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GTTCGGCTTCTAAAAAAAATA 0.333 CACNA1H 8912 broad.mit.edu 37 16 1260974 1260974 + Splice_Site DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:1260973_1260973TG>T uc002cks.3 + 21 4471 c.4223_splice c.e21+2 p.R1408_splice CACNA1H_uc002ckt.3_Splice_Site_p.R1408_splice|CACNA1H_uc002cku.3_Splice_Site_p.R114_splice|CACNA1H_uc010brj.3_Splice_Site_p.R114_splice|CACNA1H_uc002ckv.3_Splice_Site_p.R114_splice NM_021098 NP_066921 O95180 CAC1H_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA. 1408 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) GCCTCTGAGGTGGGGGGCTCC 0.697 ZC3H7A 29066 broad.mit.edu 37 16 11873222 11873222 + Splice_Site DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:11873221_11873221TA>T uc002dbk.3 - 3 307 c.109_splice c.e3-1 p.V37_splice ZC3H7A_uc002dbl.3_Splice_Site_p.V37_splice|ZC3H7A_uc002dbm.2_Splice_Site_p.V37_splice NM_014153 NP_054872 Q8IWR0 Z3H7A_HUMAN Homo sapiens zinc finger CCCH-type containing 7A (ZC3H7A), mRNA. 37 nucleus nucleic acid binding|zinc ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2) 25 CAAATATACCTAAAAAAAAGA 0.338 ARHGAP17 55114 broad.mit.edu 37 16 24958802 24958802 + Splice_Site DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:24958801_24958801AC>A uc002dnb.3 - 14 1334 c.1241_splice c.e14+1 p.G414_splice ARHGAP17_uc002dna.3_Splice_Site_p.G141_splice|ARHGAP17_uc002dnc.3_Splice_Site_p.G414_splice|ARHGAP17_uc010vcf.2_Splice_Site_p.G235_splice NM_001006634 NP_001006635 Q68EM7 RHG17_HUMAN Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA. 414 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) AAGATGACTTACCCTTCATTT 0.403 ATP6V0A1 535 broad.mit.edu 37 17 40642658 40642658 + Splice_Site DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:40642657_40642657TA>T uc002hzs.3 + 11 1362 c.1195_splice c.e11+2 p.A399_splice ATP6V0A1_uc002hzr.3_Splice_Site_p.A392_splice|ATP6V0A1_uc002hzq.3_Splice_Site_p.A392_splice|ATP6V0A1_uc010wgj.2_Splice_Site_p.A349_splice|ATP6V0A1_uc010wgk.2_Splice_Site_p.A349_splice|ATP6V0A1_uc010cyg.3_Splice_Site_p.A38_splice|ATP6V0A1_uc010wgl.2_Splice_Site_p.A251_splice NM_001130020 NP_001123492 Q93050 VPP1_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a1 (ATP6V0A1), transcript variant 1, mRNA. 392 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport Golgi apparatus|cytoplasmic vesicle membrane|endosome membrane|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3) 26 all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254) BRCA - Breast invasive adenocarcinoma(366;0.137) TAAATCCAGGTAAAAAAAAGC 0.388 PSTPIP2 9050 broad.mit.edu 37 18 43595906 43595906 + Splice_Site DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr18:43595905_43595905TA>T uc002lbp.4 - 4 309 c.213_splice c.e4-1 p.N71_splice PSTPIP2_uc002lbq.4_Splice_Site_p.N71_splice NM_024430 NP_077748 Q9H939 PPIP2_HUMAN Homo sapiens proline-serine-threonine phosphatase interacting protein 2 (PSTPIP2), mRNA. 71 FCH. membrane endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 17 TTCAGGGTGCTAAAAAAAACA 0.383 GPR64 10149 broad.mit.edu 37 X 19046359 19046360 + Splice_Site INS - - A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:19046358_19046359T>TA uc004cyx.3 - 10 601 c.359_splice c.e10-1 p.A120_splice GPR64_uc004cze.3_Splice_Site_p.A90_splice|GPR64_uc004cza.3_Splice_Site_p.A98_splice|GPR64_uc004czf.3_Splice_Site_p.A82_splice|GPR64_uc004cyy.3_Splice_Site_p.A117_splice|GPR64_uc004czc.3_Splice_Site_p.A104_splice|GPR64_uc004cyz.3_Splice_Site_p.A106_splice|GPR64_uc004czb.3_Splice_Site_p.A120_splice|GPR64_uc004czd.3_Splice_Site_p.A96_splice|GPR64_uc004cyw.3_Splice_Site_p.A104_splice|GPR64_uc010nfj.3_Splice_Site_p.A90_splice NM_001079858 NP_001073327 Q8IZP9 GPR64_HUMAN Homo sapiens G protein-coupled receptor 64 (GPR64), transcript variant 1, mRNA. 120 neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1) 42 Hepatocellular(33;0.183) TAAAAAATGCTAAAAATAAATT 0.262 SPSB1 80176 broad.mit.edu 37 1 9416314 9416315 + Frame_Shift_Ins INS - - C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:9416314_9416315insC uc010oae.1 + 2 703_704 c.364_365insC c.(364-366)GCCfs p.A122fs SPSB1_uc001apv.2_Frame_Shift_Ins_p.A122fs NM_025106 NP_079382 Q96BD6 SPSB1_HUMAN splA/ryanodine receptor domain and SOCS box 122 B30.2/SPRY. intracellular signal transduction cytoplasm 0 all_lung(157;0.194) all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419) GACGGCAGACGCCCCCCTGCAC 0.658 PRDM2 7799 broad.mit.edu 37 1 14107246 14107246 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:14107246delC uc001avi.2 + 8 3812 c.2956delC c.(2956-2958)CCCfs p.P986fs PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Frame_Shift_Del_p.P986fs|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Frame_Shift_Del_p.P785fs|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron NM_012231 NP_036363 Q13029 PRDM2_HUMAN retinoblastoma protein-binding zinc finger 986 Pro-rich.|SH3-binding (Potential). Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) TGCCACTCCGCCCCCTCCCCT 0.617 PRDM2 7799 broad.mit.edu 37 1 14107892 14107893 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:14107892_14107893insT uc001avi.2 + 8 4458_4459 c.3602_3603insT c.(3601-3603)GCTfs p.A1201fs PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Frame_Shift_Ins_p.A1201fs|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Frame_Shift_Ins_p.A1000fs|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron NM_012231 NP_036363 Q13029 PRDM2_HUMAN retinoblastoma protein-binding zinc finger 1201 C2H2-type 6. Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) AAAGAATTTGCTTTTTTGTGCA 0.431 MAP3K6 9064 broad.mit.edu 37 1 27687696 27687696 + Frame_Shift_Del DEL G G - rs139401154 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:27687696delG uc001bny.1 - 13 2033 c.1784delC c.(1783-1785)CCGfs p.P595fs MAP3K6_uc009vsw.1_Frame_Shift_Del_p.P587fs|MAP3K6_uc001bnz.1_Frame_Shift_Del_p.P118fs NM_004672 NP_004663 O95382 M3K6_HUMAN mitogen-activated protein kinase kinase kinase 595 activation of JUN kinase activity ATP binding|magnesium ion binding|MAP kinase kinase kinase activity breast(4)|lung(3)|ovary(1)|central_nervous_system(1) 9 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) GTCCTGAGCCGGGGGGAGTGC 0.662 TIE1 7075 broad.mit.edu 37 1 43770692 43770692 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:43770692delC uc001ciu.2 + 2 308 c.229delC c.(229-231)CCCfs p.P77fs TIE1_uc010okd.1_Frame_Shift_Del_p.P77fs|TIE1_uc010oke.1_Frame_Shift_Del_p.P32fs|TIE1_uc009vwq.2_Frame_Shift_Del_p.P77fs|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.1_5'Flank|TIE1_uc010oka.1_Frame_Shift_Del_p.P77fs|TIE1_uc010okb.1_Frame_Shift_Del_p.P77fs|TIE1_uc010okc.1_Frame_Shift_Del_p.P77fs NM_005424 NP_005415 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and 77 Extracellular (Potential).|Ig-like C2-type 1. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GCCCGGGCCACCCCTGCGCCT 0.746 WDR63 126820 broad.mit.edu 37 1 85598680 85598680 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:85598680delA uc001dkt.2 + 23 2866 c.2675delA c.(2674-2676)TAAfs p.*892fs WDR63_uc009wcl.2_Frame_Shift_Del_p.*853fs NM_145172 NP_660155 Q8IWG1 WDR63_HUMAN WD repeat domain 63 892 upper_aerodigestive_tract(2)|ovary(2)|skin(1) 5 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) GAGGTGATGTAAAAAAGCTTC 0.388 RWDD3 25950 broad.mit.edu 37 1 95709927 95709928 + Frame_Shift_Del DEL TG TG - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:95709927_95709928delTG uc009wdu.2 + 2 322_323 c.246_247delTG c.(244-249)ACTGTGfs p.T82fs RWDD3_uc001drd.3_3'UTR|RWDD3_uc010oty.1_Frame_Shift_Del_p.T67fs|RWDD3_uc009wdt.2_Frame_Shift_Del_p.T82fs|RWDD3_uc001drf.3_Frame_Shift_Del_p.T82fs|RWDD3_uc001drh.3_Frame_Shift_Del_p.T67fs|RWDD3_uc009wdv.2_Intron|RWDD3_uc001drg.3_RNA|RWDD3_uc001dri.3_Frame_Shift_Del_p.T82fs NM_015485 NP_056300 Q9Y3V2 RWDD3_HUMAN RWD domain containing 3 isoform a 82_83 RWD. cytoplasm|nucleus protein binding ovary(1) 1 all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769) all cancers(265;0.112)|Epithelial(280;0.229) AGTGTGTGACTGTGAAAGAGAA 0.460 SLC27A3 11000 broad.mit.edu 37 1 153749150 153749150 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:153749150delC uc001fcz.2 + 2 1030 c.965delC c.(964-966)TCCfs p.S322fs SLC27A3_uc009won.2_RNA NM_024330 NP_077306 Q5K4L6 S27A3_HUMAN solute carrier family 27 member 3 322 fatty acid metabolic process integral to membrane|mitochondrial membrane ligase activity|nucleotide binding ovary(1) 1 all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TACCTCTCTTCCCCCCAGAGC 0.597 ILDR2 387597 broad.mit.edu 37 1 166890564 166890564 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:166890564delC uc001gdx.1 - 9 1320 c.1264delG c.(1264-1266)GTGfs p.V422fs NM_199351 NP_955383 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 422 Cytoplasmic (Potential). integral to membrane ovary(1) 1 ACGGCCGGCACCCCCGTGGCG 0.721 LARP4B 23185 broad.mit.edu 37 10 890939 890939 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:890939delT uc001ifs.1 - 5 528 c.487delA c.(487-489)ACAfs p.T163fs NM_015155 NP_055970 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 163 HTH La-type RNA-binding. nucleotide binding|RNA binding ovary(2)|central_nervous_system(1) 3 AATTCCAATGTTTTTTTAAGT 0.353 MASTL 84930 broad.mit.edu 37 10 27459254 27459254 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:27459254delA uc001itm.2 + 8 2005 c.1366delA c.(1366-1368)AAAfs p.K456fs MASTL_uc001itl.2_Frame_Shift_Del_p.K456fs|MASTL_uc009xkw.1_Frame_Shift_Del_p.K456fs|MASTL_uc009xkx.1_RNA NM_032844 NP_116233 Q96GX5 GWL_HUMAN microtubule associated serine/threonine 456 Protein kinase. cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus centrosome|cleavage furrow|nucleus ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity stomach(1)|ovary(1)|lung(1) 3 CAGTCCTTGTAAAAAAATTAT 0.338 SIRT1 23411 broad.mit.edu 37 10 69676036 69676036 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:69676036delT uc001jnd.2 + 9 1983 c.1930delT c.(1930-1932)TTTfs p.F644fs SIRT1_uc010qis.1_Frame_Shift_Del_p.F349fs|SIRT1_uc009xpp.2_Frame_Shift_Del_p.F452fs|SIRT1_uc001jne.2_Frame_Shift_Del_p.F341fs NM_012238 NP_036370 Q96EB6 SIRT1_HUMAN sirtuin 1 isoform a 644 apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding 0 TCAGTATCTGTTTTTGCCACC 0.393 MYPN 84665 broad.mit.edu 37 10 69881820 69881822 + In_Frame_Del DEL TCT TCT - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:69881820_69881822delTCT uc001jnm.3 + 3 810_812 c.625_627delTCT c.(625-627)TCTdel p.S210del MYPN_uc001jnl.1_In_Frame_Del_p.S210del|MYPN_uc001jnn.3_Intron|MYPN_uc001jno.3_In_Frame_Del_p.S210del|MYPN_uc001jnp.1_In_Frame_Del_p.S210del|MYPN_uc009xps.2_In_Frame_Del_p.S210del|MYPN_uc009xpt.2_In_Frame_Del_p.S210del|MYPN_uc010qit.1_5'UTR|MYPN_uc010qiu.1_RNA NM_032578 NP_115967 Q86TC9 MYPN_HUMAN myopalladin 210 Interaction with CARP. nucleus|sarcomere actin binding ovary(3)|skin(2) 5 ACGAGAAAGATCTTCTGTTCCCA 0.488 KIF20B 9585 broad.mit.edu 37 10 91483767 91483767 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:91483767delA uc001kgs.1 + 14 1841 c.1769delA c.(1768-1770)GAAfs p.E590fs KIF20B_uc001kgr.1_Frame_Shift_Del_p.E590fs|KIF20B_uc001kgt.1_5'UTR NM_016195 NP_057279 Q96Q89 KI20B_HUMAN M-phase phosphoprotein 1 590 Potential. cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding ovary(1)|pancreas(1)|skin(1) 3 CTGATAAATGAAAAAAAGGAA 0.284 LDB1 8861 broad.mit.edu 37 10 103871226 103871226 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:103871226delG uc009xwz.2 - 2 436 c.93delC c.(91-93)CCCfs p.P31fs LDB1_uc001kuk.3_5'UTR|LDB1_uc001kul.3_5'UTR NM_001113407 NP_001106878 Q86U70 LDB1_HUMAN LIM domain binding 1 isoform 1 31 histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery nuclear chromatin|protein complex LIM domain binding|protein homodimerization activity|transcription corepressor activity large_intestine(1) 1 Colorectal(252;0.122) Epithelial(162;1.11e-07)|all cancers(201;1.82e-06) CGGGATGGAAGGGGGGAAAGG 0.537 PRDX3 10935 broad.mit.edu 37 10 120936633 120936634 + Frame_Shift_Ins INS - - C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:120936633_120936634insC uc001lec.2 - 2 111_112 c.68_69insG c.(67-69)GGCfs p.G23fs NM_006793 NP_006784 P30048 PRDX3_HUMAN peroxiredoxin 3 isoform a precursor 23 cell redox homeostasis|hydrogen peroxide catabolic process|mitochondrion organization|myeloid cell differentiation|negative regulation of kinase activity|positive regulation of cell proliferation|positive regulation of NF-kappaB transcription factor activity|regulation of mitochondrial membrane potential|response to lipopolysaccharide early endosome|mitochondrion alkyl hydroperoxide reductase activity|caspase inhibitor activity|peroxidase activity|peroxiredoxin activity|protein C-terminus binding|protein kinase binding 0 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0245) TGGCAGAAATGCCCCAAGGAAT 0.475 OR52H1 390067 broad.mit.edu 37 11 5565960 5565960 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:5565960delA uc010qzh.1 - 1 794 c.794delT c.(793-795)TTCfs p.F265fs HBG2_uc001mak.1_Intron NM_001005289 NP_001005289 Q8NGJ2 O52H1_HUMAN olfactory receptor, family 52, subfamily H, 265 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAGGATGGAGAAAAAGGCAGG 0.507 DNHD1 144132 broad.mit.edu 37 11 6585775 6585775 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:6585775delC uc001mdw.3 + 32 11061 c.10497delC c.(10495-10497)AACfs p.N3499fs DNHD1_uc001mea.3_5'UTR|DNHD1_uc001meb.2_5'UTR|DNHD1_uc001mec.2_5'Flank|DNHD1_uc010rao.1_5'Flank NM_144666 NP_653267 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 isoform 1 3499 microtubule-based movement dynein complex microtubule motor activity ovary(2) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) CACCAAAGAACCCCCTGCTGG 0.537 ALX4 60529 broad.mit.edu 37 11 44286624 44286624 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:44286624delG uc001myb.2 - 4 1120 c.1016delC c.(1015-1017)CCTfs p.P339fs NM_021926 NP_068745 Q9H161 ALX4_HUMAN aristaless-like homeobox 4 339 hair follicle development 0 CCCAGAGCCAGGGGGGTGGGC 0.692 OR4A16 81327 broad.mit.edu 37 11 55111418 55111419 + Frame_Shift_Ins INS - - T rs141537673 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:55111418_55111419insT uc010rie.1 + 1 742_743 c.742_743insT c.(742-744)GTTfs p.V248fs NM_001005274 NP_001005274 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, 248 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(2)|pancreas(1) 3 GGTTGCCCTCGTTTTTGTTCCC 0.396 FAM111A 63901 broad.mit.edu 37 11 58920101 58920101 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:58920101delA uc010rkp.1 + 5 1187 c.960delA c.(958-960)GTAfs p.V320fs FAM111A_uc010rkq.1_Frame_Shift_Del_p.V320fs|FAM111A_uc010rkr.1_Frame_Shift_Del_p.V320fs|FAM111A_uc001nno.2_Frame_Shift_Del_p.V320fs|FAM111A_uc001nnp.2_Frame_Shift_Del_p.V320fs|FAM111A_uc001nnq.2_Frame_Shift_Del_p.V320fs NM_001142521 NP_001135993 Q96PZ2 F111A_HUMAN hypothetical protein LOC63901 320 proteolysis serine-type endopeptidase activity ovary(3) 3 all_epithelial(135;0.139) AAATGAAAGTAAAAAATGGGG 0.328 INCENP 3619 broad.mit.edu 37 11 61912525 61912527 + In_Frame_Del DEL GGA GGA - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:61912525_61912527delGGA uc001nsw.1 + 12 1879_1881 c.1677_1679delGGA c.(1675-1680)GTGGAG>GTG p.E561del INCENP_uc009ynw.1_In_Frame_Del_p.E561del|INCENP_uc001nsx.1_In_Frame_Del_p.E557del|INCENP_uc001nsy.1_5'UTR NM_001040694 NP_001035784 Q9NQS7 INCE_HUMAN inner centromere protein antigens 135/155kDa 561 Potential. chromosome segregation|cytokinesis|mitotic prometaphase centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle protein binding lung(1) 1 GGCAGAAGGTGGAGGAGGACAAG 0.675 PLCZ1 89869 broad.mit.edu 37 12 18889158 18889158 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:18889158delA uc010sid.1 - 3 323 c.132delT c.(130-132)TTTfs p.F44fs PLCZ1_uc001rdv.3_5'UTR|PLCZ1_uc001rdw.3_5'UTR|CAPZA3_uc001rdy.2_5'Flank NM_033123 NP_149114 Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 44 EF-hand. intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|lung(1)|skin(1) 3 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) ATCTTACCTTAAAAATCTGTT 0.353 SLC4A8 9498 broad.mit.edu 37 12 51844775 51844775 + Frame_Shift_Del DEL G G - rs139949142 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:51844775delG uc001rys.1 + 3 424 c.246delG c.(244-246)CAGfs p.Q82fs SLC4A8_uc010sni.1_Frame_Shift_Del_p.Q29fs|SLC4A8_uc001rym.2_Frame_Shift_Del_p.Q29fs|SLC4A8_uc001ryn.2_Frame_Shift_Del_p.Q29fs|SLC4A8_uc001ryo.2_Frame_Shift_Del_p.Q29fs|SLC4A8_uc001ryp.1_Frame_Shift_Del_p.Q29fs|SLC4A8_uc010snj.1_Frame_Shift_Del_p.Q109fs|SLC4A8_uc001ryq.3_Frame_Shift_Del_p.Q82fs|SLC4A8_uc001ryr.2_Frame_Shift_Del_p.Q82fs|SLC4A8_uc010snk.1_Frame_Shift_Del_p.Q29fs NM_001039960 NP_001035049 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate 82 Extracellular (Potential). bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity ovary(3)|pancreas(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.15) GAGCCAGCCAGGGGGAGGAAG 0.672 CDK2 1017 broad.mit.edu 37 12 56362650 56362650 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:56362650delT uc001sit.3 + 4 641 c.404delT c.(403-405)ATTfs p.I135fs CDK2_uc001siu.3_Frame_Shift_Del_p.I135fs|CDK2_uc010spy.1_Frame_Shift_Del_p.I109fs NM_001798 NP_001789 P24941 CDK2_HUMAN cyclin-dependent kinase 2 isoform 1 135 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|blood coagulation|cell division|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA replication|G1/S transition of mitotic cell cycle|G2 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|histone phosphorylation|M/G1 transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation|Ras protein signal transduction|regulation of DNA replication|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol ATP binding|cyclin-dependent protein kinase activity|identical protein binding stomach(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235) AATCTGCTTATTAACACAGAG 0.507 MVK 4598 broad.mit.edu 37 12 110019240 110019240 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:110019240delC uc001toy.3 + 5 596 c.412delC c.(412-414)CCCfs p.P138fs MVK_uc009zvk.2_Frame_Shift_Del_p.P138fs|MVK_uc010sxr.1_Intron|MVK_uc001toz.3_Intron|MVK_uc001tpc.3_RNA NM_001114185 NP_001107657 Q03426 KIME_HUMAN mevalonate kinase 138 ATP (By similarity). cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|peroxisome ATP binding|identical protein binding|mevalonate kinase activity 0 GTCGGAGCTGCCCCCCGGGGC 0.667 EP400 57634 broad.mit.edu 37 12 132538120 132538121 + Frame_Shift_Ins INS - - G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:132538120_132538121insG uc001ujn.2 + 42 7741_7742 c.7706_7707insG c.(7705-7707)ACGfs p.T2569fs EP400_uc001ujl.2_Frame_Shift_Ins_p.T2568fs|EP400_uc001ujm.2_Frame_Shift_Ins_p.T2488fs NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 2605 Interaction with ZNF42 (By similarity). histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) GCAATCACGACGGGGGGCAGTG 0.515 EDNRB 1910 broad.mit.edu 37 13 78475267 78475267 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr13:78475267delA uc001vko.2 - 4 1135 c.877delT c.(877-879)TATfs p.Y293fs EDNRB_uc001vkq.1_Frame_Shift_Del_p.Y293fs|uc001vkn.1_Intron|EDNRB_uc010aez.1_Frame_Shift_Del_p.Y293fs|EDNRB_uc001vkp.1_Frame_Shift_Del_p.Y376fs NM_001122659 NP_001116131 P24530 EDNRB_HUMAN endothelin receptor type B isoform 1 precursor 293 Helical; Name=5; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding 0 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) ATTAGTGTATAAAAAAATGCA 0.343 DOCK9 23348 broad.mit.edu 37 13 99502312 99502312 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr13:99502312delA uc001vnt.2 - 36 4060 c.4005delT c.(4003-4005)TTTfs p.F1335fs DOCK9_uc001vnw.2_Frame_Shift_Del_p.F1334fs|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Frame_Shift_Del_p.F1335fs|DOCK9_uc001vnr.2_5'Flank|DOCK9_uc010tin.1_5'Flank|DOCK9_uc001vns.2_5'Flank|DOCK9_uc010tio.1_Frame_Shift_Del_p.F4fs|DOCK9_uc010tip.1_Frame_Shift_Del_p.F22fs|DOCK9_uc001vnu.1_5'Flank|DOCK9_uc010tiq.1_Frame_Shift_Del_p.F313fs NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 isoform a 1335 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity central_nervous_system(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CAGATATTGTAAAAAAATCCA 0.318 G2E3 55632 broad.mit.edu 37 14 31071214 31071214 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:31071214delA uc001wqk.2 + 10 1041 c.887delA c.(886-888)CAAfs p.Q296fs G2E3_uc010tpe.1_Frame_Shift_Del_p.Q211fs|G2E3_uc010tpf.1_Frame_Shift_Del_p.Q250fs NM_017769 NP_060239 Q7L622 G2E3_HUMAN G2/M-phase specific E3 ubiquitin ligase 296 apoptosis|multicellular organismal development|protein modification process Golgi apparatus|nucleolus acid-amino acid ligase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 GGAGAGTTCCAAAAAGCCAAA 0.299 PAPLN 89932 broad.mit.edu 37 14 73718481 73718481 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:73718481delG uc010ttx.1 + 8 943 c.780delG c.(778-780)GAGfs p.E260fs PAPLN_uc001xnw.3_Frame_Shift_Del_p.E233fs|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Frame_Shift_Del_p.E260fs NM_173462 NP_775733 O95428 PPN_HUMAN papilin 260 proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) GGGGTGCTGAGGGGGACCTGG 0.672 C14orf43 91748 broad.mit.edu 37 14 74205773 74205773 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:74205773delG uc001xot.2 - 2 1722 c.939delC c.(937-939)CCCfs p.P313fs C14orf43_uc001xou.2_Frame_Shift_Del_p.P313fs|C14orf43_uc010tud.1_Frame_Shift_Del_p.P313fs|C14orf43_uc010arw.2_RNA NM_194278 NP_919254 Q6PJG2 CN043_HUMAN hypothetical protein LOC91748 313 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(4)|central_nervous_system(1) 5 BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115) TATCTGGGTTGGGGGGGAAGG 0.662 YLPM1 56252 broad.mit.edu 37 14 75265533 75265533 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:75265533delA uc001xqj.3 + 5 3657 c.3533delA c.(3532-3534)GAAfs p.E1178fs YLPM1_uc001xql.3_RNA NM_019589 NP_062535 P49750 YLPM1_HUMAN YLP motif containing 1 983 Arg-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck ovary(2)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) GATGGTGGGGAAAAAATGTAT 0.517 MEIS2 4212 broad.mit.edu 37 15 37329090 37329090 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:37329090delT uc001zjr.2 - 8 1862 c.825delA c.(823-825)AAAfs p.K275fs MEIS2_uc001zjl.2_Frame_Shift_Del_p.K262fs|MEIS2_uc010ucj.1_Frame_Shift_Del_p.K262fs|MEIS2_uc001zjm.2_Frame_Shift_Del_p.K187fs|MEIS2_uc001zjn.2_Frame_Shift_Del_p.K129fs|MEIS2_uc001zjo.2_Frame_Shift_Del_p.K275fs|MEIS2_uc001zjp.2_Frame_Shift_Del_p.K275fs|MEIS2_uc001zjs.2_Frame_Shift_Del_p.K275fs|MEIS2_uc001zju.2_Frame_Shift_Del_p.K262fs|MEIS2_uc001zjt.2_Frame_Shift_Del_p.K275fs NM_170675 NP_733775 O14770 MEIS2_HUMAN Meis homeobox 2 isoform c 275 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(2) 2 all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155) all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288) TCTTCTGGCGTTTTTTGTCCT 0.398 DYX1C1 161582 broad.mit.edu 37 15 55759182 55759182 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:55759182delT uc002adc.2 - 5 951 c.583delA c.(583-585)ATAfs p.I195fs CCPG1_uc002acy.2_5'UTR|DYX1C1_uc010ugh.1_RNA|DYX1C1_uc010ugi.1_Intron|DYX1C1_uc002adb.2_Frame_Shift_Del_p.I195fs|DYX1C1_uc002add.2_Frame_Shift_Del_p.I195fs NM_130810 NP_570722 Q8WXU2 DYXC1_HUMAN dyslexia susceptibility 1 candidate 1 isoform a 195 neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process cytoplasm|nucleus estrogen receptor binding skin(1) 1 all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171) ttatattttattttttttctt 0.154 TRIP4 9325 broad.mit.edu 37 15 64686305 64686305 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:64686305delA uc002anm.2 + 2 305 c.262delA c.(262-264)AAAfs p.K88fs NM_016213 NP_057297 Q15650 TRIP4_HUMAN thyroid hormone receptor interactor 4 88 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding ovary(1)|kidney(1)|skin(1) 3 GCAGTGCTTCAAAAAAGATGG 0.318 IGDCC4 57722 broad.mit.edu 37 15 65678319 65678319 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:65678319delG uc002aou.1 - 18 3240 c.3030delC c.(3028-3030)CCCfs p.P1010fs IGDCC4_uc002aot.1_Frame_Shift_Del_p.P598fs NM_020962 NP_066013 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 1010 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(1)|pancreas(1)|skin(1) 3 CTGGGGGGCTGGGGGGGCCAA 0.662 OREG0023195 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) FSD2 123722 broad.mit.edu 37 15 83434691 83434691 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:83434691delC uc002bjd.2 - 10 1813 c.1646delG c.(1645-1647)GGCfs p.G549fs FSD2_uc010uol.1_Frame_Shift_Del_p.G504fs|FSD2_uc010uom.1_Frame_Shift_Del_p.G504fs NM_001007122 NP_001007123 A1L4K1 FSD2_HUMAN fibronectin type III and SPRY domain containing 549 Fibronectin type-III 2.|B30.2/SPRY. central_nervous_system(1) 1 CACGCTGGGGCCCCCCATATT 0.617 PDE8A 5151 broad.mit.edu 37 15 85634360 85634360 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:85634360delA uc002blh.2 + 8 989 c.800delA c.(799-801)GAAfs p.E267fs PDE8A_uc002bli.2_Intron|PDE8A_uc010bnc.2_Frame_Shift_Del_p.E20fs|PDE8A_uc010bnd.2_Frame_Shift_Del_p.E20fs|PDE8A_uc002blj.2_Intron|PDE8A_uc002blk.2_Intron NM_002605 NP_002596 O60658 PDE8A_HUMAN phosphodiesterase 8A isoform 1 267 PAS. cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity ovary(2)|pancreas(1)|skin(1) 4 Colorectal(223;0.227) BRCA - Breast invasive adenocarcinoma(143;0.0608) CCTATAAATGAAAAAAAGGCT 0.388 UNKL 64718 broad.mit.edu 37 16 1417261 1417263 + In_Frame_Del DEL CTT CTT - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:1417261_1417263delCTT uc010brn.1 - 8 1015_1017 c.997_999delAAG c.(997-999)AAGdel p.K333del UNKL_uc002cln.2_In_Frame_Del_p.K125del|UNKL_uc002clo.2_In_Frame_Del_p.K122del|UNKL_uc002clp.2_In_Frame_Del_p.K125del Q9H9P5 UNKL_HUMAN SubName: Full=Putative ubiquitin-protein ligase; EC=6.3.2.19; Flags: Fragment; 623 cytoplasm|nucleus ligase activity|nucleic acid binding|zinc ion binding 0 Hepatocellular(780;0.0893) CCACCTCCTCCTTCTTCTGCAGC 0.690 PKD1 5310 broad.mit.edu 37 16 2166583 2166583 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:2166583delG uc002cos.1 - 8 1878 c.1669delC c.(1669-1671)CTGfs p.L557fs PKD1_uc002cot.1_Frame_Shift_Del_p.L557fs NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 557 Extracellular (Potential). calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 AGAGGCGTCAGGGGTCCCTGC 0.716 ZNF48 197407 broad.mit.edu 37 16 30409310 30409310 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:30409310delC uc002dya.1 + 2 798 c.739delC c.(739-741)CCCfs p.P247fs ZNF48_uc002dxz.1_Frame_Shift_Del_p.P124fs NM_152652 NP_689865 Q96MX3 ZNF48_HUMAN zinc finger protein 48 247 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GGGGGAGCAGCCCCCCCGACC 0.637 ZNF689 115509 broad.mit.edu 37 16 30616641 30616641 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:30616641delG uc002dyx.2 - 3 767 c.447delC c.(445-447)CCCfs p.P149fs ZNF689_uc010bzy.2_5'UTR NM_138447 NP_612456 Q96CS4 ZN689_HUMAN zinc finger protein HIT-39 149 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(24;0.198) CAGGGCAGATGGGGCCCCCGG 0.607 CNOT1 23019 broad.mit.edu 37 16 58555109 58555110 + In_Frame_Ins INS - - TAC TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:58555109_58555110insTAC uc002env.2 - 48 7322_7323 c.7029_7030insGTA c.(7027-7032)insGTA p.2343_2344insV CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_In_Frame_Ins_p.2338_2339insV|CNOT1_uc002ent.2_In_Frame_Ins_p.281_282insV|CNOT1_uc010vik.1_In_Frame_Ins_p.1300_1301insV NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 2343_2344 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) GGGGCACAGTGTACAAATTCAT 0.401 GFOD2 81577 broad.mit.edu 37 16 67719395 67719395 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:67719395delG uc002eub.2 - 2 519 c.224delC c.(223-225)CCTfs p.P75fs GFOD2_uc002euc.2_Intron|GFOD2_uc010cen.2_Frame_Shift_Del_p.P75fs NM_030819 NP_110446 Q3B7J2 GFOD2_HUMAN glucose-fructose oxidoreductase domain 75 proteinaceous extracellular matrix binding|oxidoreductase activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242) GGTGAGTGGAGGGGGGATGCT 0.582 TERF2IP 54386 broad.mit.edu 37 16 75690320 75690320 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:75690320delA uc002fet.1 + 3 1108 c.1011delA c.(1009-1011)CTAfs p.L337fs NM_018975 NP_061848 Q9NYB0 TE2IP_HUMAN telomeric repeat binding factor 2, interacting 337 negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent cytoplasm|nuclear telomere cap complex|nucleoplasm DNA binding|protein binding central_nervous_system(1) 1 AGGCCTTCCTAAAAAATAGTG 0.443 TXNDC17 84817 broad.mit.edu 37 17 6544520 6544520 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:6544520delA uc002gdf.3 + 1 299 c.118delA c.(118-120)AAAfs p.K40fs KIAA0753_uc002gde.3_5'Flank|KIAA0753_uc010vte.1_5'Flank NM_032731 NP_116120 Q9BRA2 TXD17_HUMAN thioredoxin-like 5 40 tumor necrosis factor-mediated signaling pathway cytosol electron carrier activity|peroxidase activity|protein binding|protein-disulfide reductase activity ovary(1) 1 CGCCGGGGGGAAAAGCTGGTG 0.632 MPRIP 23164 broad.mit.edu 37 17 17046886 17046886 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:17046886delC uc002gqu.1 + 9 1108 c.1052delC c.(1051-1053)GCCfs p.A351fs MPRIP_uc002gqv.1_Frame_Shift_Del_p.A351fs|MPRIP_uc002gqw.1_Intron NM_201274 NP_958431 Q6WCQ1 MPRIP_HUMAN myosin phosphatase-Rho interacting protein 351 Interaction with F-actin (By similarity). cytoplasm|cytoskeleton actin binding 0 ACCAATGAAGCCCCCCCAGCT 0.652 RAI1 10743 broad.mit.edu 37 17 17696624 17696624 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:17696624delG uc002grm.2 + 3 831 c.362delG c.(361-363)TGGfs p.W121fs RAI1_uc002grn.1_Frame_Shift_Del_p.W121fs NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 121 cytoplasm|nucleus zinc ion binding central_nervous_system(1)|skin(1) 2 READ - Rectum adenocarcinoma(1115;0.0276) CTTCAGGCTTGGGGGGCCCCA 0.652 NF1 4763 broad.mit.edu 37 17 29684298 29684298 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:29684298delA uc002hgg.2 + 54 8214 c.7881delA c.(7879-7881)GTAfs p.V2627fs NF1_uc002hgh.2_Frame_Shift_Del_p.V2606fs|NF1_uc010cso.2_Frame_Shift_Del_p.V815fs|NF1_uc010wbt.1_Frame_Shift_Del_p.V105fs|NF1_uc010wbu.1_RNA NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 2627 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) CTACACTGGTAAAATATACCA 0.378 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) MPP2 4355 broad.mit.edu 37 17 41959741 41959741 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:41959741delG uc010wip.1 - 6 784 c.727delC c.(727-729)CGCfs p.R243fs MPP2_uc002ien.1_Frame_Shift_Del_p.R215fs|MPP2_uc010wim.1_Frame_Shift_Del_p.R187fs|MPP2_uc002ieo.1_Frame_Shift_Del_p.R198fs|MPP2_uc010win.1_Frame_Shift_Del_p.R59fs|MPP2_uc010wio.1_Frame_Shift_Del_p.R187fs|MPP2_uc010czm.1_Frame_Shift_Del_p.R181fs NM_005374 NP_005365 Q14168 MPP2_HUMAN palmitoylated membrane protein 2 222 PDZ. signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity 0 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) TGCAGTGCGCGGGGGTCACTG 0.652 MTMR4 9110 broad.mit.edu 37 17 56590291 56590291 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:56590291delC uc002iwj.2 - 3 125 c.15delG c.(13-15)GGGfs p.G5fs MTMR4_uc010dcx.1_Frame_Shift_Del_p.G19fs NM_004687 NP_004678 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 5 cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity skin(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGCTGGGGGGCCCCTCCTCAC 0.562 POLG2 11232 broad.mit.edu 37 17 62492629 62492630 + Frame_Shift_Del DEL AG AG - rs149446102 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:62492629_62492630delAG uc002jei.2 - 1 540_541 c.457_458delCT c.(457-459)CTAfs p.L153fs POLG2_uc010deg.1_Frame_Shift_Del_p.L153fs NM_007215 NP_009146 Q9UHN1 DPOG2_HUMAN DNA polymerase subunit gamma-2, mitochondrial 153 DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation mitochondrial chromosome ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding central_nervous_system(1) 1 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;4.97e-11) GATTTCGCGTAGAGTTTCTGCA 0.495 CHST9 83539 broad.mit.edu 37 18 24524315 24524316 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr18:24524315_24524316insT uc002kwd.2 - 4 415_416 c.217_218insA c.(217-219)ATCfs p.I73fs C18orf16_uc010xbm.1_Intron|CHST9_uc002kwc.2_Intron|CHST9_uc002kwe.2_Frame_Shift_Ins_p.I73fs NM_031422 NP_113610 Q7L1S5 CHST9_HUMAN GalNAc-4-sulfotransferase 2 73 Lumenal (Potential). carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process extracellular region|Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity ovary(2)|skin(1) 3 all_lung(6;0.0145)|Ovarian(20;0.124) ATGTTCCTGGATTTTTTCTGTA 0.302 ONECUT2 9480 broad.mit.edu 37 18 55104001 55104001 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr18:55104001delC uc002lgo.2 + 1 1085 c.1053delC c.(1051-1053)ATCfs p.I351fs NM_004852 NP_004843 O95948 ONEC2_HUMAN one cut domain, family member 2 351 CUT. organ morphogenesis nucleus sequence-specific DNA binding ovary(2)|central_nervous_system(1) 3 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) GCTACAGTATCCCCCAGGCGA 0.602 ATP8B1 5205 broad.mit.edu 37 18 55371796 55371798 + In_Frame_Del DEL AAG AAG - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr18:55371796_55371798delAAG uc002lgw.2 - 3 382_384 c.382_384delCTT c.(382-384)CTTdel p.L128del uc002lgv.1_Intron NM_005603 NP_005594 O43520 AT8B1_HUMAN ATPase, class I, type 8B, member 1 128 Helical; (Potential). ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(5)|ovary(2)|central_nervous_system(2)|lung(1) 10 Colorectal(73;0.229) CCTGTAAGATAAGAAGAGCCAGG 0.315 Byler_disease ALPK2 115701 broad.mit.edu 37 18 56246941 56246941 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr18:56246941delA uc002lhj.3 - 4 1281 c.1067delT c.(1066-1068)TTAfs p.L356fs NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 356 ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 GCTTTCTAATAAAAAAACATG 0.478 OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) APBA3 9546 broad.mit.edu 37 19 3752611 3752611 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:3752611delC uc002lyp.1 - 8 1467 c.1290delG c.(1288-1290)GGGfs p.G430fs APBA3_uc002lyo.1_Frame_Shift_Del_p.G188fs NM_004886 NP_004877 O96018 APBA3_HUMAN amyloid beta (A4) precursor protein-binding, 430 PDZ 1. intracellular signal transduction|protein transport intracellular|membrane protein binding 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18) GCTCAGCAGGCCCCCCGTGCA 0.746 KDM4B 23030 broad.mit.edu 37 19 5131158 5131158 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:5131158delC uc002mbq.3 + 12 1613 c.1387delC c.(1387-1389)CCCfs p.P463fs KDM4B_uc010xim.1_Frame_Shift_Del_p.P497fs|KDM4B_uc002mbr.3_Frame_Shift_Del_p.P221fs NM_015015 NP_055830 O94953 KDM4B_HUMAN jumonji domain containing 2B 463 Pro-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding lung(1) 1 CGGCCTGCTGCCCCCACAGCT 0.697 CCDC97 90324 broad.mit.edu 37 19 41828552 41828554 + In_Frame_Del DEL GAG GAG - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:41828552_41828554delGAG uc002oqg.2 + 5 1086_1088 c.964_966delGAG c.(964-966)GAGdel p.E324del CYP2F1_uc010xvw.1_Intron NM_052848 NP_443080 Q96F63 CCD97_HUMAN coiled-coil domain containing 97 324 0 GGCACGGGATGAGGAGGAGAGGT 0.631 FAM83E 54854 broad.mit.edu 37 19 49107038 49107038 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:49107038delG uc002pjn.2 - 4 954 c.889delC c.(889-891)CAGfs p.Q297fs SPACA4_uc002pjo.2_5'Flank NM_017708 NP_060178 Q2M2I3 FA83E_HUMAN hypothetical protein LOC54854 297 ovary(1) 1 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) GAGGGTTTCTGGGGGGGCGCA 0.721 LILRA5 353514 broad.mit.edu 37 19 54822823 54822823 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:54822823delG uc002qfe.2 - 5 693 c.573delC c.(571-573)CCCfs p.P191fs LILRA5_uc002qff.2_Frame_Shift_Del_p.P179fs|LILRA5_uc010yev.1_Frame_Shift_Del_p.P191fs|LILRA5_uc010yew.1_Frame_Shift_Del_p.P179fs|LILRA5_uc002qfh.1_Frame_Shift_Del_p.P179fs|LILRA5_uc002qfg.1_Frame_Shift_Del_p.P191fs NM_021250 NP_067073 A6NI73 LIRA5_HUMAN leukocyte immunoglobulin-like receptor subfamily 191 Extracellular (Potential).|Ig-like C2-type 2. innate immune response extracellular region|integral to membrane receptor activity upper_aerodigestive_tract(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ACTGCCCACTGGGGGTCAGCT 0.592 MERTK 10461 broad.mit.edu 37 2 112704982 112704982 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:112704982delT uc002thk.1 + 4 717 c.595delT c.(595-597)TTTfs p.F199fs MERTK_uc002thl.1_Frame_Shift_Del_p.F23fs NM_006343 NP_006334 Q12866 MERTK_HUMAN MER receptor tyrosine kinase precursor 199 Extracellular (Potential).|Ig-like C2-type 2. cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1) 9 ACTTCCTCACTTTACTAAGCA 0.493 FAM128B 80097 broad.mit.edu 37 2 130948157 130948157 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:130948157delG uc002tqu.2 + 3 588 c.435delG c.(433-435)AAGfs p.K145fs NM_025029 NP_079305 Q6NZ67 MZT2B_HUMAN hypothetical protein LOC80097 145 centrosome|gamma-tubulin ring complex|spindle protein binding 0 Colorectal(110;0.1) GGCTGCCCAAGGGGGGCGGGC 0.657 LCT 3938 broad.mit.edu 37 2 136594278 136594279 + Frame_Shift_Del DEL AT AT - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:136594278_136594279delAT uc002tuu.1 - 1 472_473 c.461_462delAT c.(460-462)TATfs p.Y154fs NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 154 Extracellular (Potential).|4 X approximate repeats.|1. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) CGAATGTGGCATAGTCGGCGAA 0.574 TTN 7273 broad.mit.edu 37 2 179403334 179403334 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:179403334delA uc010zfg.1 - 303 91742 c.91518delT c.(91516-91518)TTTfs p.F30506fs uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Frame_Shift_Del_p.F24201fs|TTN_uc010zfi.1_Frame_Shift_Del_p.F24134fs|TTN_uc010zfj.1_Frame_Shift_Del_p.F24009fs NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 31433 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CATTCTCAGCAAAAACCCTGA 0.418 TTN 7273 broad.mit.edu 37 2 179535860 179535860 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:179535860delT uc010zfg.1 - 151 31586 c.31362delA c.(31360-31362)AAAfs p.K10454fs TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Frame_Shift_Del_p.K7115fs|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_5'UTR NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 11381 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TAGTGGGCGGTTTTTTTGGAG 0.368 C2orf69 205327 broad.mit.edu 37 2 200790166 200790167 + Frame_Shift_Ins INS - - A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:200790166_200790167insA uc010zhb.1 + 2 898_899 c.715_716insA c.(715-717)GAAfs p.E239fs NM_153689 NP_710156 Q8N8R5 CB069_HUMAN hypothetical protein LOC205327 precursor 239 extracellular region central_nervous_system(1) 1 GAGGACCTGTGAAAAATCTGAT 0.386 ERBB4 2066 broad.mit.edu 37 2 213403254 213403254 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:213403254delT uc002veg.1 - 1 99 c.1delA c.(1-3)ATGfs p.M1fs ERBB4_uc002veh.1_Frame_Shift_Del_p.M1fs|ERBB4_uc010zji.1_Frame_Shift_Del_p.M1fs|ERBB4_uc010zjj.1_Frame_Shift_Del_p.M1fs|ERBB4_uc010fut.1_Frame_Shift_Del_p.M1fs NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 1 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) GCCGGCTTCATTTTTTGGAAG 0.537 TSP Lung(8;0.080) RBCK1 10616 broad.mit.edu 37 20 409650 409652 + In_Frame_Del DEL AGA AGA - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:409650_409652delAGA uc002wdp.3 + 11 2057_2059 c.1364_1366delAGA c.(1363-1368)CAGAAG>CAG p.K457del RBCK1_uc002wdq.3_In_Frame_Del_p.K415del|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_In_Frame_Del_p.K287del NM_031229 NP_112506 Q9BYM8 HOIL1_HUMAN RanBP-type and C3HC4-type zinc finger containing 457 IBR-type 2. interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway LUBAC complex protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding 0 all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231) ATCGTGGTACAGAAGAAGGACGG 0.685 SLC23A2 9962 broad.mit.edu 37 20 4843454 4843454 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:4843454delC uc002wlg.1 - 14 1831 c.1456delG c.(1456-1458)GTGfs p.V486fs SLC23A2_uc010zqr.1_Frame_Shift_Del_p.V371fs|SLC23A2_uc002wlh.1_Frame_Shift_Del_p.V486fs NM_005116 NP_005107 Q9UGH3 S23A2_HUMAN solute carrier family 23 (nucleobase 486 Helical; (Potential). L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity ovary(2) 2 GCTCCCAGCACAGGATCCGGA 0.552 ISM1 140862 broad.mit.edu 37 20 13260483 13260483 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:13260483delG uc010gce.1 + 3 587 c.581delG c.(580-582)AGGfs p.R194fs TASP1_uc010zri.1_Intron NM_080826 NP_543016 B1AKI9 ISM1_HUMAN isthmin 1 homolog precursor 194 extracellular region 0 AACCCCCCCAGGGGGTGGGAC 0.542 TP53INP2 58476 broad.mit.edu 37 20 33296578 33296578 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:33296578delC uc002xau.1 + 3 370 c.35delC c.(34-36)ACCfs p.T12fs NM_021202 NP_067025 Q8IXH6 T53I2_HUMAN tumor protein p53 inducible nuclear protein 2 12 nucleus 0 TTCTTCAGCACCCCCTCGCCC 0.662 NTSR1 4923 broad.mit.edu 37 20 61341143 61341143 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:61341143delC uc002ydf.2 + 1 955 c.584delC c.(583-585)GCCfs p.A195fs NM_002531 NP_002522 P30989 NTR1_HUMAN neurotensin receptor 1 195 Helical; Name=4; (Potential). endoplasmic reticulum|Golgi apparatus|integral to plasma membrane neurotensin receptor activity, G-protein coupled skin(2)|lung(1)|central_nervous_system(1) 4 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;3.63e-06) ATCTGGCTCGCCTCGGCCCTG 0.667 CELSR1 9620 broad.mit.edu 37 22 46931227 46931227 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr22:46931227delC uc003bhw.1 - 1 1841 c.1841delG c.(1840-1842)GGCfs p.G614fs NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 614 Extracellular (Potential).|Cadherin 4. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) AGCGCTGCCGCCCCCCAGAAA 0.657 TOP2B 7155 broad.mit.edu 37 3 25670433 25670433 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:25670433delT uc011awn.1 - 15 1854 c.1811delA c.(1810-1812)AATfs p.N604fs TOP2B_uc003cdj.2_Frame_Shift_Del_p.N599fs NM_001068 NP_001059 Q02880 TOP2B_HUMAN DNA topoisomerase II, beta isozyme 604 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|ovary(1)|lung(1)|skin(1) 5 TTCCTGCTTATTTTTGCTTGC 0.279 KIF9 64147 broad.mit.edu 37 3 47315092 47315092 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:47315092delC uc010hjp.2 - 5 920 c.316delG c.(316-318)GCAfs p.A106fs KIF9_uc003cqx.2_Frame_Shift_Del_p.A106fs|KIF9_uc003cqy.2_Frame_Shift_Del_p.A106fs|KIF9_uc011bat.1_Intron|KIF9_uc011bau.1_RNA NM_001134878 NP_001128350 Q9HAQ2 KIF9_HUMAN kinesin family member 9 isoform 2 106 Kinesin-motor. blood coagulation|microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity skin(1) 1 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) TTCTCAGTTGCCCCCATCATG 0.557 GRM2 2912 broad.mit.edu 37 3 51746928 51746928 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:51746928delG uc010hlv.2 + 3 1129 c.890delG c.(889-891)TGGfs p.W297fs GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA NM_000839 NP_000830 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 isoform a 297 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) AGTGATGGTTGGGGGGCCCTG 0.642 SLC25A26 115286 broad.mit.edu 37 3 66293635 66293635 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:66293635delT uc011bfq.1 + 4 927 c.199delT c.(199-201)TTTfs p.F67fs SLC25A26_uc011bfs.1_5'UTR|SLC25A26_uc011bft.1_RNA|SLC25A26_uc011bfr.1_Frame_Shift_Del_p.F67fs|SLC25A26_uc003dmt.2_5'UTR NM_173471 NP_775742 Q70HW3 SAMC_HUMAN solute carrier family 25, member 26 isoform a 67 Solcar 1.|Helical; Name=2; (Potential). integral to membrane|mitochondrial inner membrane|nucleus S-adenosylmethionine transmembrane transporter activity pancreas(1) 1 Lung NSC(201;0.00774) BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648) AGCTGCTGCATTTTTTATCAC 0.328 PLXNA1 5361 broad.mit.edu 37 3 126735391 126735391 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:126735391delC uc003ejg.2 + 15 2981 c.2977delC c.(2977-2979)CCCfs p.P993fs NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 1016 IPT/TIG 2.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) GTGCCTGACACCCCCCGGGCA 0.627 MED12L 116931 broad.mit.edu 37 3 150845633 150845633 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:150845633delG uc003eyp.2 + 4 456 c.418delG c.(418-420)GAGfs p.E140fs MED12L_uc011bnz.1_Frame_Shift_Del_p.E140fs|MED12L_uc003eym.1_Frame_Shift_Del_p.E140fs|MED12L_uc003eyn.2_Frame_Shift_Del_p.E140fs|MED12L_uc003eyo.2_Frame_Shift_Del_p.E140fs NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 140 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TAGTAAAAAAGAGGATGTTTT 0.343 SERPINI1 5274 broad.mit.edu 37 3 167507159 167507159 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:167507159delA uc003ffa.3 + 2 441 c.243delA c.(241-243)CTAfs p.L81fs SERPINI1_uc003ffb.3_Frame_Shift_Del_p.L81fs NM_001122752 NP_001116224 Q99574 NEUS_HUMAN neuroserpin precursor 81 central nervous system development|peripheral nervous system development|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity skin(1) 1 ATGACAGCCTAAAAAATGGTA 0.388 GPR160 26996 broad.mit.edu 37 3 169802469 169802469 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:169802469delA uc003fgi.2 + 4 1299 c.709delA c.(709-711)AAAfs p.K237fs GPR160_uc010hwq.2_Frame_Shift_Del_p.K237fs NM_014373 NP_055188 Q9UJ42 GP160_HUMAN G protein-coupled receptor 160 237 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) TGTGAGATCTAAAAAAATATT 0.328 HGFAC 3083 broad.mit.edu 37 4 3450973 3450973 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:3450973delG uc003ghc.2 + 14 1798 c.1795delG c.(1795-1797)GGGfs p.G599fs HGFAC_uc010icw.2_Frame_Shift_Del_p.G606fs NM_001528 NP_001519 Q04756 HGFA_HUMAN HGF activator preproprotein 599 Peptidase S1. proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(2) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) GGGGGACTCAGGGGGGCCCCT 0.682 SLC34A2 10568 broad.mit.edu 37 4 25665878 25665878 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:25665878delT uc003grr.2 + 4 386 c.305delT c.(304-306)ATTfs p.I102fs SLC34A2_uc003grs.2_Frame_Shift_Del_p.I101fs|SLC34A2_uc010iev.2_Frame_Shift_Del_p.I101fs NM_006424 NP_006415 O95436 NPT2B_HUMAN solute carrier family 34 (sodium phosphate), 102 Helical; Name=M1; (Potential). cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity skin(3)|ovary(1)|kidney(1) 5 Breast(46;0.0503) GGGAGATTGATTTTACTTCTC 0.483 KCTD8 386617 broad.mit.edu 37 4 44177044 44177044 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:44177044delT uc003gwu.2 - 2 1469 c.1185delA c.(1183-1185)AAAfs p.K395fs NM_198353 NP_938167 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerisation domain 395 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(2)|ovary(1) 3 GTACAGGTGCTTTTTTAGAGG 0.502 HNSCC(17;0.042) SDAD1 55153 broad.mit.edu 37 4 76892547 76892547 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:76892547delT uc003hje.3 - 9 895 c.776delA c.(775-777)AACfs p.N259fs SDAD1_uc003hjf.3_Frame_Shift_Del_p.N162fs|SDAD1_uc011cbr.1_Frame_Shift_Del_p.N222fs NM_018115 NP_060585 Q9NVU7 SDA1_HUMAN SDA1 domain containing 1 259 Potential. protein transport|ribosomal large subunit biogenesis nucleolus protein binding ovary(1) 1 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) CTTTTTCTTGTTTTTGGAACT 0.368 KIAA1712 80817 broad.mit.edu 37 4 175231156 175231158 + In_Frame_Del DEL TCT TCT - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:175231156_175231158delTCT uc003itr.2 + 8 1248_1250 c.834_836delTCT c.(832-837)AATCTT>AAT p.L280del KIAA1712_uc010iro.2_In_Frame_Del_p.L280del|KIAA1712_uc003its.2_RNA NM_001040157 NP_001035247 Q9C0F1 CEP44_HUMAN HBV PreS1-transactivated protein 3 isoform a 280 centrosome|midbody|spindle pole 0 Prostate(90;0.00276)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196) all cancers(43;4.06e-18)|Epithelial(43;1.18e-15)|OV - Ovarian serous cystadenocarcinoma(60;4.65e-09)|GBM - Glioblastoma multiforme(59;0.00098)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0949) CCTGGACTAATCTTCTTAGTCGT 0.305 CDH6 1004 broad.mit.edu 37 5 31294199 31294199 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:31294199delA uc003jhe.1 + 3 685 c.359delA c.(358-360)GAAfs p.E120fs CDH6_uc003jhd.1_Frame_Shift_Del_p.E120fs NM_004932 NP_004923 P55285 CADH6_HUMAN cadherin 6, type 2 preproprotein 120 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding ovary(4)|skin(2)|large_intestine(1) 7 GACAGGGAAGAAAAACCCGTT 0.448 CMYA5 202333 broad.mit.edu 37 5 79030050 79030050 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:79030050delA uc003kgc.2 + 2 5534 c.5462delA c.(5461-5463)CAAfs p.Q1821fs NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1821 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) CTTGTAGAACAAAAAAAGACA 0.383 RASA1 5921 broad.mit.edu 37 5 86675571 86675571 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:86675571delA uc003kiw.2 + 19 2625 c.2507delA c.(2506-2508)GAAfs p.E836fs RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Frame_Shift_Del_p.E659fs|RASA1_uc011ctv.1_Frame_Shift_Del_p.E669fs|RASA1_uc011ctw.1_Frame_Shift_Del_p.E670fs|RASA1_uc010jaw.2_Frame_Shift_Del_p.E658fs NM_002890 NP_002881 P20936 RASA1_HUMAN RAS p21 protein activator 1 isoform 1 836 Ras-GAP. cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding upper_aerodigestive_tract(3)|ovary(1)|lung(1) 5 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) TCAAAGTTAGAAAAAAATGAA 0.308 TSSK1B 83942 broad.mit.edu 37 5 112769462 112769462 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:112769462delG uc003kqm.2 - 1 1267 c.1075delC c.(1075-1077)CAAfs p.Q359fs MCC_uc003kql.3_Intron NM_032028 NP_114417 Q9BXA7 TSSK1_HUMAN testis-specific serine kinase 1 359 cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(2)|skin(2)|stomach(1) 5 all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156) Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449) GGAGGCTGTTGGGGGGGCCCT 0.597 KCNN2 3781 broad.mit.edu 37 5 113822813 113822813 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:113822813delA uc003kqo.2 + 6 1778 c.1321delA c.(1321-1323)AAAfs p.K441fs KCNN2_uc003kqp.2_Frame_Shift_Del_p.K93fs|KCNN2_uc010jcg.2_RNA|uc003kqr.1_Intron NM_021614 NP_067627 Q9H2S1 KCNN2_HUMAN small conductance calcium-activated potassium 441 Calmodulin-binding (By similarity). integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity ovary(2) 2 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) AAAGCTAGTGAAAAAGATAGA 0.323 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139892956 139892957 + Frame_Shift_Ins INS - - A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:139892956_139892957insA uc003lfs.1 + 24 4333_4334 c.4209_4210insA c.(4207-4212)TTGAAAfs p.L1403fs ANKHD1_uc003lfq.1_Frame_Shift_Ins_p.L1422fs|ANKHD1_uc003lfr.2_Frame_Shift_Ins_p.L1403fs|ANKHD1_uc003lft.1_Frame_Shift_Ins_p.L614fs|ANKHD1_uc003lfu.1_Frame_Shift_Ins_p.L883fs|ANKHD1_uc003lfv.1_Frame_Shift_Ins_p.L480fs|ANKHD1-EIF4EBP3_uc011czh.1_Frame_Shift_Ins_p.L142fs|ANKHD1_uc003lfw.2_Frame_Shift_Ins_p.L41fs NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 1403_1404 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGAACTGTTGAAAAAATGTCA 0.347 RREB1 6239 broad.mit.edu 37 6 7247181 7247181 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:7247181delC uc003mxc.2 + 11 4723 c.4333delC c.(4333-4335)CCCfs p.P1445fs RREB1_uc003mxb.2_Frame_Shift_Del_p.P1500fs|RREB1_uc010jnx.2_Intron NM_001003698 NP_001003698 Q92766 RREB1_HUMAN ras responsive element binding protein 1 isoform 1445 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1) 11 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) GGAGGAGAAGCCCCCCGAGAC 0.746 JARID2 3720 broad.mit.edu 37 6 15496722 15496722 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:15496722delG uc003nbj.2 + 7 1510 c.1266delG c.(1264-1266)GTGfs p.V422fs JARID2_uc011diu.1_Frame_Shift_Del_p.V286fs|JARID2_uc011div.1_Frame_Shift_Del_p.V250fs|JARID2_uc011diw.1_Frame_Shift_Del_p.V384fs NM_004973 NP_004964 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 protein 422 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding ovary(2)|lung(1)|pancreas(1) 4 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) CTAAGGAGGTGGGGGGGCGGC 0.667 KIAA0319 9856 broad.mit.edu 37 6 24596507 24596508 + Frame_Shift_Ins INS - - C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:24596507_24596508insC uc011djo.1 - 3 631_632 c.394_395insG c.(394-396)GACfs p.D132fs KIAA0319_uc011djp.1_Frame_Shift_Ins_p.D87fs|KIAA0319_uc003neh.1_Frame_Shift_Ins_p.D132fs|KIAA0319_uc011djq.1_Frame_Shift_Ins_p.D123fs|KIAA0319_uc011djr.1_Frame_Shift_Ins_p.D132fs NM_014809 NP_055624 Q5VV43 K0319_HUMAN KIAA0319 precursor 132 Extracellular (Potential). negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding ovary(1)|skin(1) 2 CTCAGGTGAGTCCCCCCAGATC 0.550 MDC1 9656 broad.mit.edu 37 6 30675170 30675172 + In_Frame_Del DEL CTT CTT - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:30675170_30675172delCTT uc003nrg.3 - 9 3513_3515 c.3073_3075delAAG c.(3073-3075)AAGdel p.K1025del MDC1_uc003nrf.3_In_Frame_Del_p.K415del|MDC1_uc011dmp.1_In_Frame_Del_p.K632del NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1025 Missing (in Ref. 2; CAH18685). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 CCCTGGAAACCTTCTCAGCAGCT 0.458 Other_conserved_DNA_damage_response_genes ARMC2 84071 broad.mit.edu 37 6 109294600 109294600 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:109294600delA uc003pss.3 + 18 2661 c.2487delA c.(2485-2487)CTAfs p.L829fs ARMC2_uc011eao.1_Frame_Shift_Del_p.L664fs NM_032131 NP_115507 Q8NEN0 ARMC2_HUMAN armadillo repeat containing 2 829 binding 0 all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11) Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434) ATCCAGACCTAAAAAACTATC 0.373 SNX13 23161 broad.mit.edu 37 7 17855827 17855827 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:17855827delT uc003stw.1 - 19 2177 c.1964delA c.(1963-1965)AAGfs p.K655fs SNX13_uc003stv.2_Frame_Shift_Del_p.K644fs|SNX13_uc010kuc.2_Frame_Shift_Del_p.K441fs|SNX13_uc010kub.2_Frame_Shift_Del_p.K50fs Q9Y5W8 SNX13_HUMAN SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g; 655 PX. cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity early endosome membrane phosphatidylinositol binding|signal transducer activity central_nervous_system(2)|kidney(1) 3 Lung NSC(10;0.0261)|all_lung(11;0.0521) ATTTAGATCCTTTTTTCTCTT 0.274 OGDH 4967 broad.mit.edu 37 7 44747227 44747228 + Frame_Shift_Ins INS - - C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:44747227_44747228insC uc003tln.2 + 22 2952_2953 c.2843_2844insC c.(2842-2844)TACfs p.Y948fs OGDH_uc011kbx.1_Frame_Shift_Ins_p.Y944fs|OGDH_uc011kby.1_Frame_Shift_Ins_p.Y798fs|OGDH_uc003tlp.2_Frame_Shift_Ins_p.Y959fs|OGDH_uc011kbz.1_Frame_Shift_Ins_p.Y743fs NM_002541 NP_002532 Q02218 ODO1_HUMAN oxoglutarate dehydrogenase isoform 1 precursor 948 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding upper_aerodigestive_tract(1)|ovary(1) 2 NADH(DB00157) GTGCAGAAGTACCCCAATGCTG 0.564 CTTNBP2 83992 broad.mit.edu 37 7 117431604 117431604 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:117431604delT uc003vjf.2 - 4 1738 c.1646delA c.(1645-1647)AAGfs p.K549fs NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 549 Pro-rich. ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) GAGCCCTGGCTTTTTTGGAGG 0.522 NUP205 23165 broad.mit.edu 37 7 135301910 135301911 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:135301910_135301911insT uc003vsw.2 + 26 3636_3637 c.3605_3606insT c.(3604-3606)GATfs p.D1202fs NUP205_uc003vsx.2_5'Flank NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 1202 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 TTGCAGTTGGATTTTTTTGATC 0.371 SSPO 23145 broad.mit.edu 37 7 149501110 149501110 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:149501110delG uc010lpk.2 + 57 8246 c.8246delG c.(8245-8247)TGGfs p.W2749fs NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 2749 TSP type-1 6. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCGGCAGCCTGGGGGGGTGCC 0.667 TLR8 51311 broad.mit.edu 37 X 12939876 12939876 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:12939876delA uc004cve.2 + 2 2785 c.2717delA c.(2716-2718)GAAfs p.E906fs TLR8_uc004cvd.2_Frame_Shift_Del_p.E924fs NM_138636 NP_619542 Q9NR97 TLR8_HUMAN toll-like receptor 8 precursor 906 Cytoplasmic (Potential).|TIR. cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity ovary(4)|lung(2)|large_intestine(1) 7 TACCACCTTGAAGAGAGCCGA 0.468 GPR64 10149 broad.mit.edu 37 X 19046358 19046359 + Splice_Site INS - - A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:19046358_19046359insA uc004cyx.2 - 10 523 c.359_splice c.e10-1 p.A120_splice GPR64_uc004cyy.2_Splice_Site_p.A117_splice|GPR64_uc004cyz.2_Splice_Site_p.A106_splice|GPR64_uc004czb.2_Splice_Site_p.A120_splice|GPR64_uc004czc.2_Splice_Site_p.A104_splice|GPR64_uc004czd.2_Splice_Site_p.A96_splice|GPR64_uc004cze.2_Splice_Site_p.A90_splice|GPR64_uc004czf.2_Splice_Site_p.A82_splice|GPR64_uc004cza.2_Splice_Site_p.A98_splice|GPR64_uc004cyw.2_Splice_Site_p.A104_splice|GPR64_uc010nfj.2_Splice_Site_p.A90_splice NM_001079858 NP_001073327 Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 isoform 1 neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity 0 Hepatocellular(33;0.183) TAAAAAATGCTAAAAATAAATT 0.262 YY2 404281 broad.mit.edu 37 X 21863335 21863335 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:21863335delT uc010nfq.2 + 3 468 c.271delT c.(271-273)TTTfs p.F91fs MBTPS2_uc004dae.2_Frame_Shift_Del_p.F91fs|MBTPS2_uc004dab.2_Frame_Shift_Del_p.F91fs NM_206923 NP_996806 O15391 TYY2_HUMAN YY2 transcription factor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|plasma membrane DNA binding|zinc ion binding breast(1)|skin(1) 2 GTTTAGCTCATTTTTTCTCCT 0.284 TEX13B 56156 broad.mit.edu 37 X 107224932 107224933 + Frame_Shift_Del DEL CT CT - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:107224932_107224933delCT uc004enn.1 - 2 518_519 c.425_426delAG c.(424-426)GAGfs p.E142fs NM_031273 NP_112563 Q9BXU2 TX13B_HUMAN testis expressed 13B 142 ovary(1) 1 GCATGTCCCGCTCTCTCTGCAC 0.589 MAGEA8 4107 broad.mit.edu 37 X 149013887 149013888 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:149013887_149013888insT uc004fdw.1 + 3 1056_1057 c.841_842insT c.(841-843)CTTfs p.L281fs NM_005364 NP_005355 P43361 MAGA8_HUMAN melanoma antigen family A, 8 281 MAGE. 0 Acute lymphoblastic leukemia(192;6.56e-05) TCCAAGGGCCCTTGCTGAAACC 0.579 RERE 473 broad.mit.edu 37 1 8674690 8674691 + Frame_Shift_Ins INS - - G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:8674689_8674690T>TG uc001ape.3 - 4 1262_1263 c.452_453A>CA c.(451-453)ccafs p.P151fs RERE_uc001apf.3_Frame_Shift_Ins_p.P151fs|RERE_uc001aph.1_Frame_Shift_Ins_p.P151fs NM_012102 NP_036234 Q9P2R6 RERE_HUMAN Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA. 151 BAH. NLS-bearing substrate import into nucleus|multicellular organismal development mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 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) GAGAGCATGCTGGGGGGTCACA 0.520 SPSB1 80176 broad.mit.edu 37 1 9416315 9416316 + Frame_Shift_Ins INS - - C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:9416314_9416315G>GC uc010oae.2 + 1 703_704 c.364_365G>GC c.(364-366)gccfs p.A122fs SPSB1_uc001apv.3_Frame_Shift_Ins_p.A122fs NM_025106 NP_079382 Q96BD6 SPSB1_HUMAN Homo sapiens splA/ryanodine receptor domain and SOCS box containing 1 (SPSB1), mRNA. 122 B30.2/SPRY. intracellular signal transduction cytoplasm breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2) 13 all_lung(157;0.194) all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419) GACGGCAGACGCCCCCCTGCAC 0.658 PRDM2 7799 broad.mit.edu 37 1 14107893 14107894 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:14107892_14107893C>CT uc001avi.3 + 7 4458_4459 c.3602_3603C>CT c.(3601-3603)gctfs p.A1201fs PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Frame_Shift_Ins_p.A1201fs|PRDM2_uc001avk.3_Frame_Shift_Ins_p.A1000fs|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron NM_012231 NP_036363 Q13029 PRDM2_HUMAN Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA. 1201 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) AAAGAATTTGCTTTTTTGTGCA 0.431 LYPLA2 11313 broad.mit.edu 37 1 24119502 24119502 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:24119501_24119501AT>A uc001bht.3 + 2 203 c.82_82AT>A c.(82-84)attfs p.I28fs NM_007260 NP_009191 O95372 LYPA2_HUMAN Homo sapiens lysophospholipase II (LYPLA2), mRNA. 28 fatty acid metabolic process cytoplasm hydrolase activity endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184) TTTCCAGGTTATTTTTTTACA 0.582 ARID1A 8289 broad.mit.edu 37 1 27105931 27105931 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:27105930_27105930TG>T uc001bmv.1 + 19 5914 c.5541_5541TG>T c.(5539-5541)ggtfs p.G1847fs ARID1A_uc001bmu.1_Frame_Shift_Del_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.G89fs NM_006015 NP_006006 O14497 ARI1A_HUMAN Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA. 1847 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 SWI/SNF complex|nBAF complex|npBAF complex DNA binding|protein binding p.G1848fs*6(3)|p.G1847fs*36(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 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) GGCGGATTGGTGGGGGGGACA 0.582 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" FGGY 55277 broad.mit.edu 37 1 59812017 59812017 + Frame_Shift_Del DEL G G - rs145440779 by1000genomes TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:59812016_59812016CG>C uc009wac.3 + 3 623 c.411_411CG>C c.(409-411)gtcfs p.V137fs FGGY_uc001czg.2_Frame_Shift_Del_p.V25fs|FGGY_uc001czh.2_Non-coding_Transcript|FGGY_uc001czi.4_Frame_Shift_Del_p.V137fs|FGGY_uc001czl.4_Intron NM_001113411 NP_001106882 Q96C11 FGGY_HUMAN Homo sapiens FGGY carbohydrate kinase domain containing (FGGY), transcript variant 1, mRNA. 137 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(7;7.36e-05) TCCAGTACGTCGGGGGGGTGA 0.502 PLEKHO1 51177 broad.mit.edu 37 1 150131249 150131249 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:150131248_150131248AC>A uc001ett.3 + 5 1038 c.760_760AC>A c.(760-762)accfs p.T254fs PLEKHO1_uc001ets.3_Frame_Shift_Del_p.T71fs|PLEKHO1_uc001etu.3_Frame_Shift_Del_p.T82fs|PLEKHO1_uc021oyc.1_Frame_Shift_Del_p.T71fs NM_016274 NP_057358 Q53GL0 PKHO1_HUMAN Homo sapiens pleckstrin homology domain containing, family O member 1 (PLEKHO1), mRNA. 254 Interaction with ATM, CKIP, IFP35 and NMI. cytoplasm|nucleus|plasma membrane breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2) 22 Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) GGCCACCTACACCCCCCAGGC 0.647 SLC39A1 27173 broad.mit.edu 37 1 153934781 153934782 + Frame_Shift_Ins INS - - C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:153934780_153934781G>GC uc001fdl.3 - 3 699_700 c.233_234C>GC c.(232-234)ggcfs p.G78fs SLC39A1_uc001fdi.3_Frame_Shift_Ins_p.G78fs|SLC39A1_uc001fdj.3_Frame_Shift_Ins_p.G78fs|SLC39A1_uc001fdk.3_Frame_Shift_Ins_p.G78fs|SLC39A1_uc010pee.2_Intron NM_014437 NP_055252 Q9NY26 S39A1_HUMAN Homo sapiens solute carrier family 39 (zinc transporter), member 1 (SLC39A1), mRNA. 78 endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane zinc ion transmembrane transporter activity kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1) 12 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Colorectal(1306;0.019) CCAAAAAGACGCCCCCCGCGAA 0.614 CREB3L4 148327 broad.mit.edu 37 1 153941173 153941174 + Frame_Shift_Del DEL TG TG - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:153941172_153941173CTG>C uc001fdm.1 + 1 439_440 c.171_172CTG>C c.(169-174)ggctgtfs p.G57fs SLC39A1_uc001fdl.3_5'Flank|CREB3L4_uc001fdn.3_Frame_Shift_Del_p.G57fs|CREB3L4_uc010pef.1_5'UTR|CREB3L4_uc001fdo.3_Intron|CREB3L4_uc010peg.1_Frame_Shift_Del_p.G57fs|CREB3L4_uc001fdr.2_Frame_Shift_Del_p.G57fs|CREB3L4_uc001fdq.2_Intron NM_130898 NP_570968 Q8TEY5 CR3L4_HUMAN Homo sapiens cAMP responsive element binding protein 3-like 4 (CREB3L4), transcript variant 1, mRNA. 57 response to unfolded protein Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3) 13 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GGGACCGTGGCTGTGTGAGTGT 0.599 USP21 27005 broad.mit.edu 37 1 161134660 161134660 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:161134659_161134659CA>C uc010pkc.2 + 11 1796 c.1419_1419CA>C c.(1417-1419)atcfs p.I473fs USP21_uc010pkd.2_Frame_Shift_Del_p.I473fs|USP21_uc021pbv.1_Non-coding_Transcript|PPOX_uc001fyj.2_5'Flank|PPOX_uc001fyg.2_5'Flank|PPOX_uc010pkg.1_5'Flank|PPOX_uc001fyi.2_5'Flank|PPOX_uc010pkh.1_5'Flank NM_001014443 NP_036607 Q9UK80 UBP21_HUMAN Homo sapiens ubiquitin specific peptidase 21 (USP21), transcript variant 3, mRNA. 473 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process nucleus NEDD8-specific protease activity|metal ion binding|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3) 29 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GAGGCTCCATCAAAAAAAGTT 0.517 ADCY10 55811 broad.mit.edu 37 1 167863166 167863167 + Frame_Shift_Ins INS - - AA TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:167863165_167863166C>CAA uc001ger.3 - 7 1051_1052 c.753_754G>TTG c.(751-756)cttgcafs p.L251fs ADCY10_uc010plj.2_Frame_Shift_Ins_p.L98fs|ADCY10_uc009wvk.3_Frame_Shift_Ins_p.L159fs|ADCY10_uc009wvl.3_Frame_Shift_Ins_p.L250fs|ADCY10_uc009wvm.2_Non-coding_Transcript NM_018417 NP_001161221 Q96PN6 ADCYA_HUMAN Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA. 251 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction ATP binding|adenylate cyclase activity|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 AGCGTGCATGCAAGCCTCAGGA 0.490 ADCY10 55811 broad.mit.edu 37 1 167870995 167870995 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:167870994_167870994GT>G uc001ger.3 - 4 640 c.342_342AC>C c.(340-342)aacfs p.N114fs ADCY10_uc010plj.2_Intron|ADCY10_uc009wvk.3_Frame_Shift_Del_p.N22fs|ADCY10_uc009wvl.3_Frame_Shift_Del_p.N113fs|ADCY10_uc009wvm.2_Intron NM_018417 NP_001161221 Q96PN6 ADCYA_HUMAN Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA. 114 Guanylate cyclase 1. intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction ATP binding|adenylate cyclase activity|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 CTGTGATAATGTTTTTCAGCT 0.507 FAM5C 339479 broad.mit.edu 37 1 190067583 190067583 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:190067582_190067582CA>C uc001gse.1 - 7 2099 c.1867_1867TG>G c.(1867-1869)gagfs p.E623fs FAM5C_uc010pot.1_Frame_Shift_Del_p.E521fs NM_199051 NP_950252 Q76B58 FAM5C_HUMAN Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA. 623 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) TGTACTGTCTCAAAAAATGTC 0.448 GOLT1A 127845 broad.mit.edu 37 1 204170836 204170836 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:204170835_204170835AC>A uc001has.1 - 2 408 c.222_222GT>T c.(220-222)ggtfs p.G74fs GOLT1A_uc001hat.1_Frame_Shift_Del_p.G74fs NM_198447 NP_940849 Q6ZVE7 GOT1A_HUMAN Homo sapiens golgi transport 1A (GOLT1A), mRNA. 74 protein transport|vesicle-mediated transport Golgi membrane|integral to membrane kidney(1)|lung(2)|urinary_tract(1) 4 all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244) CGATAACCACACCCCCCAGGA 0.542 SRGAP2 23380 broad.mit.edu 37 1 206516357 206516357 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:206516356_206516356TA>T uc001hdy.3 + 0 157 c.156_156TA>T c.(154-156)tttfs p.F52fs SRGAP2_uc009xbt.3_5'UTR|SRGAP2_uc010prt.1_5'UTR|SRGAP2_uc001hdx.3_Frame_Shift_Del_p.F52fs|SRGAP2_uc010pru.2_Frame_Shift_Del_p.F52fs NM_015326 NP_056141 O75044 FNBP2_HUMAN Homo sapiens SLIT-ROBO Rho GTPase activating protein 2 (SRGAP2), transcript variant 1, mRNA. 139 FCH. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(1)|breast(1)|kidney(1)|lung(1) 4 Breast(84;0.137) GAAGACTCTTTAAAAAGGTAC 0.408 DYRK3 8444 broad.mit.edu 37 1 206820772 206820772 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:206820771_206820771CT>C uc001hej.3 + 2 396 c.228_228CT>C c.(226-228)cacfs p.H76fs DYRK3_uc001hek.3_Intron|DYRK3_uc001hei.3_Frame_Shift_Del_p.H56fs NM_003582 NP_003573 O43781 DYRK3_HUMAN Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 (DYRK3), transcript variant 1, mRNA. 76 erythrocyte differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2) 25 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) ATACTCAGCACTTTTTGGATG 0.373 KIAA1383 54627 broad.mit.edu 37 1 232943122 232943123 + Frame_Shift_Ins INS - - A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:232943121_232943122G>GA uc001hvh.2 + 0 2484_2485 c.2352_2353G>GA c.(2350-2355)atgaaafs p.M784fs NM_019090 NP_061963 Q9P2G4 K1383_HUMAN Homo sapiens KIAA1383 (KIAA1383), mRNA. 642 Ser-rich. breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1) 20 all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169) ATGTGGAAATGAAAATCCAAAG 0.361 EXO1 9156 broad.mit.edu 37 1 242045292 242045292 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr1:242045291_242045291CA>C uc021plj.1 + 11 2497 c.2183_2183CA>C c.(2182-2184)tcafs p.S728fs EXO1_uc001hzh.3_Frame_Shift_Del_p.S728fs|EXO1_uc009xgq.3_Frame_Shift_Del_p.S727fs|EXO1_uc021plk.1_Frame_Shift_Del_p.S728fs NM_006027 NP_569082 Q9UQ84 EXO1_HUMAN Homo sapiens exonuclease 1 (EXO1), transcript variant 1, mRNA. 728 Interaction with MSH2. meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2) 45 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) TCTCATTTCTCAAAAAAAGAC 0.318 Editing and processing nucleases SULT6B1 391365 broad.mit.edu 37 2 37395141 37395142 + Frame_Shift_Del DEL TT TT - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:37395140_37395141CTT>C uc002rpu.3 - 6 756_757 c.735_736AAG>G c.(733-738)aaagagfs p.K245fs SULT6B1_uc010yni.2_Non-coding_Transcript NM_001032377 NP_001027549 Q6IMI4 ST6B1_HUMAN Homo sapiens sulfotransferase family, cytosolic, 6B, member 1 (SULT6B1), mRNA. 283 cytoplasm sulfotransferase activity NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1) 12 all_hematologic(82;0.248) GCTAAGCACTCTTTGAATTTTT 0.391 LOC728819 728819 broad.mit.edu 37 2 43903432 43903432 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:43903431_43903431TA>T uc010fav.1 - 0 31 c.31_31TA>A c.(31-33)aagfs p.K11fs PLEKHH2_uc002rte.3_Intron|PLEKHH2_uc002rtf.3_Intron|PLEKHH2_uc010yny.2_Intron NM_001101330 NP_001094800 Homo sapiens hCG1645220 (LOC728819), mRNA. all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) AACATACCCTTAAAAAATGAT 0.512 CCDC104 112942 broad.mit.edu 37 2 55756040 55756042 + In_Frame_Del DEL AGA AGA - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:55756039_55756041CAGA>C uc002ryx.2 + 4 581_583 c.383_385CAGA>C c.(382-387)gcagaa>gCaa p.E129del CCDC104_uc002ryy.2_In_Frame_Del_p.E104del NM_080667 NP_542398 Q96G28 CC104_HUMAN Homo sapiens coiled-coil domain containing 104 (CCDC104), mRNA. 104 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2) 14 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GTGTTGGCAGCAGAAGATTTTAC 0.355 C2orf42 54980 broad.mit.edu 37 2 70406777 70406777 + Splice_Site DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:70406776_70406776TA>T uc002sgh.3 - 4 1152 c.824_splice c.e4-1 p.G275_splice NM_017880 NP_060350 Q9NWW7 CB042_HUMAN Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA. 275 endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 12 CTTTAAGACCTAAAAAAAAGA 0.353 UPP2 151531 broad.mit.edu 37 2 158980303 158980303 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:158980302_158980302GA>G uc002tzo.3 + 7 897 c.877_877GA>G c.(877-879)gaafs p.E293fs UPP2_uc002tzp.3_Frame_Shift_Del_p.E236fs NM_001135098 NP_775491 O95045 UPP2_HUMAN Homo sapiens uridine phosphorylase 2 (UPP2), transcript variant 2, mRNA. 236 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process cytosol|type III intermediate filament uridine phosphorylase activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 CTTTTCCAGAGAAAAAAAGTT 0.473 C2orf69 205327 broad.mit.edu 37 2 200790167 200790168 + Frame_Shift_Ins INS - - A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:200790166_200790167G>GA uc010zhb.2 + 1 898_899 c.715_716G>GA c.(715-717)gaafs p.E239fs NM_153689 NP_710156 Q8N8R5 CB069_HUMAN Homo sapiens chromosome 2 open reading frame 69 (C2orf69), mRNA. 239 extracellular region central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)|stomach(1)|urinary_tract(1) 11 GAGGACCTGTGAAAAATCTGAT 0.386 CASP8 841 broad.mit.edu 37 2 202151290 202151290 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:202151289_202151289GA>G uc002uxr.1 + 9 1621 c.1412_1412GA>G c.(1411-1413)agafs p.R471fs CASP8_uc002uxq.1_Frame_Shift_Del_p.R456fs|CASP8_uc002uxp.1_Frame_Shift_Del_p.R488fs|CASP8_uc002uxu.1_Non-coding_Transcript|CASP8_uc002uxt.1_Frame_Shift_Del_p.R530fs|CASP8_uc002uxw.1_Frame_Shift_Del_p.R456fs|CASP8_uc010ftf.2_Frame_Shift_Del_p.R387fs NM_033355 NP_203519 Q14790 CASP8_HUMAN Homo sapiens caspase 8, apoptosis-related cysteine peptidase (CASP8), transcript variant B, mRNA. 471 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 TTCACACTAAGAAAAAAACTT 0.398 HNSCC(4;0.00038) CRYGD 1421 broad.mit.edu 37 2 209025577 209025578 + Frame_Shift_Ins INS - - C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:209025576_209025577A>AC uc002vcq.4 - 2 493_494 c.476_477T>GT c.(475-477)ggtfs p.G159fs CRYGD_uc021vvu.1_Intron NM_014617 NP_055432 P07320 CRGD_HUMAN Homo sapiens crystallin, gamma A (CRYGA), mRNA. 159 Beta/gamma crystallin 'Greek key' 4. cellular response to reactive oxygen species|visual perception soluble fraction protein binding|structural constituent of eye lens breast(1)|endometrium(1)|lung(3) 5 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133) TGGCATCTGCACCCCCCCAGTC 0.530 ERBB4 2066 broad.mit.edu 37 2 212288881 212288882 + Splice_Site INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr2:212288880_212288881A>AT uc002veg.1 - 23 2964 c.2866_splice c.e23+1 p.C956_splice ERBB4_uc002veh.1_Splice_Site_p.C956_splice|ERBB4_uc010zji.1_Splice_Site_p.C946_splice|ERBB4_uc010zjj.1_Splice_Site_p.C946_splice NM_005235 NP_005226 Q15303 ERBB4_HUMAN Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA. 956 Protein kinase. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) GCAGTCTTACATTTGACCATGA 0.366 TSP Lung(8;0.080) C3orf20 84077 broad.mit.edu 37 3 14802989 14802990 + Frame_Shift_Ins INS - - G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:14802988_14802989C>CG uc003byy.3 + 14 2813_2814 c.2361_2362C>CG c.(2359-2364)gccgggfs p.A787fs C3orf20_uc003byz.3_Frame_Shift_Ins_p.A665fs|C3orf20_uc003bza.3_Frame_Shift_Ins_p.A665fs|C3orf20_uc003bzb.1_Frame_Shift_Ins_p.A288fs|C3orf20_uc011avj.2_Frame_Shift_Ins_p.A114fs NM_032137 NP_001171887 Q8ND61 CC020_HUMAN Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA. 787 cytoplasm|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40 AGATGTTTGCCGGGGGGAAGCT 0.470 SCN11A 11280 broad.mit.edu 37 3 38949441 38949442 + Splice_Site INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:38949440_38949441C>CT uc021wvy.1 - 10 1672 c.1473_splice c.e10+1 p.K491_splice NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 491 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) AAAGACTTACCTTTTTTTGGCA 0.386 SCN11A 11280 broad.mit.edu 37 3 38962726 38962726 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:38962725_38962725GC>G uc021wvy.1 - 5 933 c.734_734GC>C c.(733-735)gccfs p.A245fs NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 245 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity p.A245A(1) NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GCGTAGCAAGGCCCCCACGAT 0.537 KIF15 56992 broad.mit.edu 37 3 44879832 44879832 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:44879831_44879831CA>C uc003cnx.4 + 26 3385 c.3236_3236CA>C c.(3235-3237)tcafs p.S1079fs KIF15_uc010hiq.3_Frame_Shift_Del_p.S982fs|KIF15_uc010hir.3_Frame_Shift_Del_p.S127fs NM_020242 NP_064627 Q9NS87 KIF15_HUMAN Homo sapiens kinesin family member 15 (KIF15), mRNA. 1079 blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) ACAGAGGCCTCAAAAAAACAC 0.498 GLT8D1 55830 broad.mit.edu 37 3 52731828 52731828 + Frame_Shift_Del DEL C C - rs138720022 byFrequency TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:52731827_52731827GC>G uc003dfi.4 - 3 470 c.239_239GC>C c.(238-240)gccfs p.A80fs GLT8D1_uc003dfk.3_Frame_Shift_Del_p.A80fs|GLT8D1_uc003dfl.3_Frame_Shift_Del_p.A80fs|GLT8D1_uc003dfm.3_Frame_Shift_Del_p.A80fs|GLT8D1_uc003dfn.3_Frame_Shift_Del_p.A80fs NM_152932 NP_690909 Q68CQ7 GL8D1_HUMAN Homo sapiens glycosyltransferase 8 domain containing 1 (GLT8D1), transcript variant 1, mRNA. 80 integral to membrane|mitochondrion transferase activity, transferring glycosyl groups breast(1)|endometrium(1)|kidney(3)|large_intestine(3) 8 BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) AGCTGCAATGGCCCCCCCAAG 0.488 GBE1 2632 broad.mit.edu 37 3 81548302 81548302 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:81548301_81548301GA>G uc021xav.1 - 14 2294 c.2012_2012TC>C c.(2011-2013)tctfs p.S671fs NM_000158 NP_000149 Q04446 GLGB_HUMAN Homo sapiens glucan (1,4-alpha-), branching enzyme 1 (GBE1), mRNA. 671 glucose metabolic process|glycogen biosynthetic process cytosol 1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Lung NSC(201;0.0117) UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247) AAAAGCCTCAGAAAAAAAGTC 0.368 Glycogen Storage Disease, type IV FILIP1L 11259 broad.mit.edu 37 3 99568273 99568273 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:99568272_99568272GT>G uc003dtm.3 - 4 2711 c.2248_2248AC>C c.(2248-2250)ctafs p.L750fs MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Frame_Shift_Del_p.L750fs|FILIP1L_uc010hpf.3_Frame_Shift_Del_p.L326fs|FILIP1L_uc010hpg.3_Frame_Shift_Del_p.L510fs|FILIP1L_uc003dtn.3_Frame_Shift_Del_p.L510fs|FILIP1L_uc021xbr.1_Frame_Shift_Del_p.L510fs|FILIP1L_uc003dtp.1_Frame_Shift_Del_p.L510fs NM_182909 NP_878913 Q4L180 FIL1L_HUMAN Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA. 750 cytoplasm|membrane|myosin complex|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 TGTTGATTTAGTTTTTTTTGC 0.403 FILIP1L 11259 broad.mit.edu 37 3 99568990 99568990 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:99568989_99568989AT>A uc003dtm.3 - 4 1994 c.1531_1531AT>T c.(1531-1533)ttafs p.L511fs MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Frame_Shift_Del_p.L511fs|FILIP1L_uc010hpf.3_Frame_Shift_Del_p.L87fs|FILIP1L_uc010hpg.3_Frame_Shift_Del_p.L271fs|FILIP1L_uc003dtn.3_Frame_Shift_Del_p.L271fs|FILIP1L_uc021xbr.1_Frame_Shift_Del_p.L271fs|FILIP1L_uc003dtp.1_Frame_Shift_Del_p.L271fs NM_182909 NP_878913 Q4L180 FIL1L_HUMAN Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA. 511 cytoplasm|membrane|myosin complex|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 GTTTTCTTTAATTTTTCACTC 0.318 TOPBP1 11073 broad.mit.edu 37 3 133329880 133329880 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr3:133329879_133329879AT>A uc003eps.3 - 24 4274 c.4142_4142AT>T c.(4141-4143)atcfs p.I1381fs NM_007027 NP_008958 Q92547 TOPB1_HUMAN Homo sapiens topoisomerase (DNA) II binding protein 1 (TOPBP1), mRNA. 1381 DNA repair|response to ionizing radiation PML body|microtubule organizing center|spindle pole DNA binding|protein C-terminus binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 40 TCTTTGCTGGATTTTTTTTCT 0.343 Other conserved DNA damage response genes FRAS1 80144 broad.mit.edu 37 4 79362354 79362354 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:79362353_79362353AT>A uc003hlb.2 + 40 6007 c.5567_5567AT>A c.(5566-5568)catfs p.H1856fs FRAS1_uc003hkw.3_Frame_Shift_Del_p.H1856fs|FRAS1_uc010ijj.2_Frame_Shift_Del_p.H276fs NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA. 1855 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TCATTTCACCATTTTTTTGCT 0.418 CXXC4 80319 broad.mit.edu 37 4 105411999 105412000 + Frame_Shift_Del DEL CA CA - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:105411998_105411999CCA>C uc003hxg.3 - 0 469_470 c.454_455TGG>G c.(454-456)ggcfs p.G152fs AK094561_uc003hxh.1_5'Flank|CXXC4_uc010ilo.3_Intron NM_025212 NP_079488 Q9H2H0 CXXC4_HUMAN Homo sapiens CXXC finger protein 4 (CXXC4), mRNA. 152 Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis DNA binding|PDZ domain binding|zinc ion binding kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(123;3.05e-08) GCTGCAGACGCCACAGTTGATG 0.540 IL21 59067 broad.mit.edu 37 4 123534051 123534052 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr4:123534050_123534051G>GT uc003ies.2 - 3 438_439 c.393_394C>AC c.(391-396)aaaccafs p.K131fs IL21_uc010int.3_Frame_Shift_Ins_p.K131fs NM_021803 NP_068575 Q9HBE4 IL21_HUMAN Homo sapiens interleukin 21 (IL21), transcript variant 1, mRNA. 124 cell maturation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|signal transduction extracellular space cytokine activity|interleukin-2 receptor binding NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3) 8 TCTTTGGGTGGTTTTTTCTCAT 0.287 FYB 2533 broad.mit.edu 37 5 39124357 39124358 + Splice_Site INS - - A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:39124356_39124357C>CA uc003jls.3 - 11 2000 c.1933_splice c.e11+1 p.D645_splice FYB_uc003jlt.3_Splice_Site_p.D691_splice|FYB_uc003jlu.3_Splice_Site_p.D645_splice|FYB_uc011cpl.2_Splice_Site_p.D701_splice NM_199335 NP_955367 O15117 FYB_HUMAN Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA. 645 NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) ATTACTTACCCAATTGTTTAGG 0.351 C6 729 broad.mit.edu 37 5 41181535 41181535 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:41181534_41181534TA>T uc003jmk.2 - 6 1064 c.854_854TA>A c.(853-855)tatfs p.Y285fs C6_uc003jml.1_Frame_Shift_Del_p.Y285fs NM_000065 NP_001108603 P13671 CO6_HUMAN Homo sapiens complement component 6 (C6), transcript variant 1, mRNA. 285 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CTTTGAGGAATAAAAAATTGG 0.368 TNPO1 3842 broad.mit.edu 37 5 72173171 72173174 + Frame_Shift_Del DEL TAAG TAAG - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:72173170_72173173CTAAG>C uc003kck.4 + 8 1064_1067 c.917_920CTAAG>C c.(916-921)cctaagfs p.P306fs TNPO1_uc011csi.1_Non-coding_Transcript|TNPO1_uc011csj.1_Frame_Shift_Del_p.P256fs|TNPO1_uc003kci.4_Frame_Shift_Del_p.P298fs|TNPO1_uc003kcg.4_Frame_Shift_Del_p.P298fs|MIR4804_uc021yal.1_5'Flank NM_002270 NP_694858 Q92973 TNPO1_HUMAN Homo sapiens transportin 1 (TNPO1), transcript variant 1, mRNA. 306 interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation cytosol|nucleus nuclear localization sequence binding|protein binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 Lung NSC(167;0.0053)|Ovarian(174;0.0175) OV - Ovarian serous cystadenocarcinoma(47;6.14e-54) AGGCATCTTCCTAAGTAAGTGTTC 0.343 CETN3 1070 broad.mit.edu 37 5 89701581 89701581 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:89701580_89701580CT>C uc003kjo.3 - 2 315 c.190_190AG>G c.(190-192)gctfs p.A64fs NM_004365 NP_004356 O15182 CETN3_HUMAN Homo sapiens centrin, EF-hand protein, 3 (CETN3), mRNA. 64 EF-hand 2. cell division|centrosome cycle|mitosis centriole calcium ion binding lung(3) 3 all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23) AGTACATCAGCTTTTTTTACA 0.313 SEPT8 23176 broad.mit.edu 37 5 132096640 132096642 + In_Frame_Del DEL CTC CTC - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:132096639_132096641TCTC>T uc003kxr.2 - 8 1377_1379 c.1139_1141GAGA>A c.(1138-1143)gagaag>gAag p.K381del SEPT8_uc003kxs.1_In_Frame_Del_p.K381del|SEPT8_uc003kxu.2_In_Frame_Del_p.K381del|SEPT8_uc011cxi.1_In_Frame_Del_p.K379del|SEPT8_uc003kxv.2_In_Frame_Del_p.K379del|SEPT8_uc003kxt.2_In_Frame_Del_p.K321del NM_001098811 NP_001092281 Q92599 SEPT8_HUMAN Homo sapiens septin 8 (SEPT8), transcript variant 1, mRNA. 381 cell cycle septin complex GTP binding|protein binding SEPT8/AFF4(2) kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1) 11 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ACCTTGCGCTTCTCCTCCTGGTG 0.626 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139892957 139892958 + Frame_Shift_Ins INS - - A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:139892956_139892957G>GA uc003lfs.2 + 23 4363_4364 c.4209_4210G>GA c.(4207-4212)ttgaaafs p.L1403fs ANKHD1-EIF4EBP3_uc003lfq.2_Frame_Shift_Ins_p.L1422fs|ANKHD1-EIF4EBP3_uc003lfr.3_Frame_Shift_Ins_p.L1403fs|ANKHD1-EIF4EBP3_uc003lft.1_Frame_Shift_Ins_p.L614fs|ANKHD1-EIF4EBP3_uc003lfu.1_Frame_Shift_Ins_p.L883fs|ANKHD1-EIF4EBP3_uc003lfv.1_Frame_Shift_Ins_p.L480fs|ANKHD1-EIF4EBP3_uc011czh.1_Frame_Shift_Ins_p.L142fs|ANKHD1-EIF4EBP3_uc003lfw.3_Frame_Shift_Ins_p.L41fs NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA. 1403 cytoplasm|nucleus RNA binding breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2) 57 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGAACTGTTGAAAAAATGTCA 0.347 LARS 51520 broad.mit.edu 37 5 145508683 145508683 + Splice_Site DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:145508682_145508682CT>C uc003lnx.1 - 26 2867 c.2629_splice c.e26-1 p.P877_splice LARS_uc003lnw.1_Splice_Site_p.P35_splice|LARS_uc011dbq.1_Splice_Site_p.P831_splice|LARS_uc011dbr.1_Splice_Site_p.P823_splice|LARS_uc011dbs.1_Splice_Site_p.P850_splice NM_020117 NP_064502 Q9P2J5 SYLC_HUMAN Homo sapiens leucyl-tRNA synthetase (LARS), mRNA. 877 leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8) 34 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) TTGAGTCAGGCTTTTAAAAAA 0.333 CNOT6 57472 broad.mit.edu 37 5 179994114 179994114 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr5:179994113_179994113GT>G uc003mlx.3 + 7 1092 c.743_743GT>G c.(742-744)agtfs p.S248fs CNOT6_uc010jld.3_Frame_Shift_Del_p.S248fs|CNOT6_uc010jle.3_Frame_Shift_Del_p.S243fs NM_015455 NP_056270 Q9ULM6 CNOT6_HUMAN Homo sapiens CCR4-NOT transcription complex, subunit 6 (CNOT6), mRNA. 248 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus RNA binding|exonuclease activity|metal ion binding|protein binding central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1) 23 all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.023) CAGTATTACAGTTTTTTTCTG 0.348 NOL7 51406 broad.mit.edu 37 6 13620992 13620993 + Frame_Shift_Ins INS - - A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:13620991_13620992C>CA uc003naz.3 + 7 738_739 c.706_707C>CA c.(706-708)caafs p.Q236fs NM_016167 NP_057251 Q9UMY1 NOL7_HUMAN Homo sapiens nucleolar protein 7, 27kDa (NOL7), mRNA. 236 mitochondrion|nucleolus p.Q239fs*7(1)|p.K238fs*16(1) breast(1)|large_intestine(3)|lung(1) 5 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.135) Epithelial(50;0.176) TCTAGGAATCCAAAAAAAACAA 0.267 KIAA0319 9856 broad.mit.edu 37 6 24596508 24596509 + Frame_Shift_Ins INS - - C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:24596507_24596508T>TC uc011djo.2 - 2 894_895 c.394_395A>GA c.(394-396)gacfs p.D132fs KIAA0319_uc011djp.2_Frame_Shift_Ins_p.D87fs|KIAA0319_uc003neh.1_Frame_Shift_Ins_p.D132fs|KIAA0319_uc011djq.1_Frame_Shift_Ins_p.D123fs|KIAA0319_uc011djr.1_Frame_Shift_Ins_p.D132fs NM_001168375 NP_001161848 Q5VV43 K0319_HUMAN Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA. 132 negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 CTCAGGTGAGTCCCCCCAGATC 0.550 OR12D3 81797 broad.mit.edu 37 6 29342751 29342752 + Frame_Shift_Ins INS - - A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:29342750_29342751C>CA uc003nme.3 - 0 318_319 c.314_315G>TG c.(313-315)ttgfs p.L105fs NM_030959 NP_112221 Q9UGF7 O12D3_HUMAN Homo sapiens olfactory receptor, family 12, subfamily D, member 3 (OR12D3), mRNA. 105 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3) 23 CTGTGCTTCCCAAAAAGTGGAA 0.495 UHRF1BP1 54887 broad.mit.edu 37 6 34839369 34839369 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:34839368_34839368TC>T uc003oju.4 + 18 4223 c.3989_3989TC>T c.(3988-3990)atcfs p.I1330fs UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA. 1330 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 CAGGATGATATCCCCCCCATC 0.512 PTCRA 171558 broad.mit.edu 37 6 42890866 42890866 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:42890865_42890865AC>A uc021yzp.1 + 1 240 c.159_159AC>A c.(157-159)gcafs p.A53fs PTCRA_uc011duz.1_Frame_Shift_Del_p.H64fs|PTCRA_uc010jxx.1_Intron|PTCRA_uc010jxy.3_Intron|PTCRA_uc003osx.3_Frame_Shift_Del_p.A53fs|PTCRA_uc010jxz.3_Intron NM_001243168 NP_001230097 Q6ISU1 PTCRA_HUMAN Homo sapiens pre T-cell antigen receptor alpha (PTCRA), transcript variant 1, mRNA. 53 integral to membrane receptor activity p.V52D(1) large_intestine(2)|lung(4)|ovary(2) 8 Colorectal(47;0.196) all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388) TTGATGTTGCACCCCCTGGCC 0.607 PLA2G7 7941 broad.mit.edu 37 6 46677134 46677134 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:46677133_46677133AT>A uc010jzf.3 - 8 1069 c.800_800AT>T c.(799-801)atafs p.I267fs PLA2G7_uc021zae.1_Frame_Shift_Del_p.I267fs NM_005084 NP_005075 Q13093 PAFA_HUMAN Homo sapiens phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) (PLA2G7), transcript variant 1, mRNA. 267 inflammatory response|lipid catabolic process extracellular space 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1) 14 Lung(136;0.192) AATTACTGCTATTTTTTCCCT 0.308 BAI3 577 broad.mit.edu 37 6 69640508 69640508 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:69640507_69640507GA>G uc010kak.3 + 2 1090 c.814_814GA>G c.(814-816)gaafs p.E272fs BAI3_uc003pev.4_Frame_Shift_Del_p.E272fs NM_001704 NP_001695 O60242 BAI3_HUMAN Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA. 272 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) ATCTGTTCATGAAAAAAGGGT 0.338 USP45 85015 broad.mit.edu 37 6 99893879 99893879 + Frame_Shift_Del DEL A A - rs12203426 byFrequency TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr6:99893878_99893878TA>T uc003ppx.2 - 13 2303 c.1770_1770TA>A c.(1768-1770)ttafs p.L590fs USP45_uc003ppv.2_Intron|USP45_uc003ppw.2_Frame_Shift_Del_p.L270fs NM_001080481 NP_001073950 Q70EL2 UBP45_HUMAN Homo sapiens ubiquitin specific peptidase 45 (USP45), mRNA. 590 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 22 all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133) BRCA - Breast invasive adenocarcinoma(108;0.0718) GCTTCCCCTCTAAAAAACATA 0.353 CARD11 84433 broad.mit.edu 37 7 2968323 2968324 + Frame_Shift_Ins INS - - G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:2968322_2968323C>CG uc003smv.3 - 12 1997_1998 c.1663_1664G>CG c.(1663-1665)cggfs p.R555fs NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA. 555 T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity p.R548L(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) GCTGCGGCTCCGGGGGGGCTGC 0.589 Mis DLBCL GLI3 2737 broad.mit.edu 37 7 42064869 42064869 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:42064868_42064868GC>G uc011kbh.2 - 8 1442 c.1351_1351GC>C c.(1351-1353)cagfs p.Q451fs GLI3_uc011kbg.2_Frame_Shift_Del_p.Q392fs NM_000168 NP_000159 P10071 GLI3_HUMAN Homo sapiens GLI family zinc finger 3 (GLI3), mRNA. 451 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 CCTACCTGCTGCCCCCGAGCC 0.622 Pallister-Hall syndrome;Greig Cephalopolysyndactyly OGDH 4967 broad.mit.edu 37 7 44747228 44747229 + Frame_Shift_Ins INS - - C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:44747227_44747228A>AC uc003tln.3 + 21 3002_3003 c.2843_2844A>AC c.(2842-2844)tacfs p.Y948fs OGDH_uc011kbx.2_Frame_Shift_Ins_p.Y944fs|OGDH_uc011kby.2_Frame_Shift_Ins_p.Y798fs|OGDH_uc003tlp.3_Frame_Shift_Ins_p.Y959fs|OGDH_uc011kbz.2_Frame_Shift_Ins_p.Y743fs NM_002541 NP_002532 Q02218 ODO1_HUMAN Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 948 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) GTGCAGAAGTACCCCAATGCTG 0.564 MLL5 55904 broad.mit.edu 37 7 104753027 104753028 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:104753026_104753027A>AT uc003vcm.3 + 26 5357_5358 c.4823_4824A>AT c.(4822-4824)catfs p.H1608fs MLL5_uc010ljc.3_Frame_Shift_Ins_p.H1608fs|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.3_Frame_Shift_Ins_p.H342fs NM_182931 NP_891847 Q8IZD2 MLL5_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA. 1608 Pro-rich. DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent MLL5-L complex|nuclear speck enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 63 ACTCCAGGGCATTTTTTGCCCT 0.535 NUP205 23165 broad.mit.edu 37 7 135301911 135301912 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:135301910_135301911A>AT uc003vsw.3 + 25 3636_3637 c.3605_3606A>AT c.(3604-3606)gatfs p.D1202fs NM_015135 NP_055950 Q92621 NU205_HUMAN Homo sapiens nucleoporin 205kDa (NUP205), mRNA. 1202 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 TTGCAGTTGGATTTTTTTGATC 0.371 MLL3 58508 broad.mit.edu 37 7 151878070 151878071 + Frame_Shift_Ins INS - - G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr7:151878069_151878070T>TG uc003wla.3 - 35 7094_7095 c.6875_6876A>CA c.(6874-6876)ccafs p.P2292fs MLL3_uc003wkz.3_Frame_Shift_Ins_p.P1353fs|MLL3_uc003wky.3_5'Flank NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA. 2292 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15) 365 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) GGGCAGCAGATGGGGAAACACG 0.520 N medulloblastoma MTUS1 57509 broad.mit.edu 37 8 17513479 17513480 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:17513478_17513479G>GT uc003wxv.3 - 8 3475_3476 c.3001_3002C>AC c.(3001-3003)acafs p.T1001fs MTUS1_uc003wxt.3_Frame_Shift_Ins_p.T248fs|MTUS1_uc011kyg.2_Frame_Shift_Ins_p.T146fs|MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Frame_Shift_Ins_p.T947fs|MTUS1_uc003wxs.3_Frame_Shift_Ins_p.T167fs NM_001001924 NP_001001924 Q9ULD2 MTUS1_HUMAN Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA. 1001 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 36 Colorectal(111;0.0778) CTCTCGTTCTGTTTTTTCAGCC 0.416 FUT10 84750 broad.mit.edu 37 8 33246853 33246853 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:33246852_33246852CA>C uc011lbi.2 - 3 1157 c.991_991TG>G c.(991-993)gagfs p.E331fs FUT10_uc003xjc.3_Frame_Shift_Del_p.E288fs|FUT10_uc003xjd.3_Frame_Shift_Del_p.E253fs|FUT10_uc003xje.3_Frame_Shift_Del_p.E281fs|FUT10_uc003xjf.3_Frame_Shift_Del_p.E219fs|FUT10_uc003xjg.3_Frame_Shift_Del_p.E253fs|FUT10_uc003xjh.3_Frame_Shift_Del_p.E281fs Q6P4F1 FUT10_HUMAN Homo sapiens fucosyltransferase 10 (alpha (1,3) fucosyltransferase) (FUT10), mRNA. 281 L-fucose catabolic process|embryo development|fertilization|hemopoiesis|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 29 KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154) ACTGCATTCTCAAAAGCTAGG 0.458 ST18 9705 broad.mit.edu 37 8 53055565 53055565 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:53055564_53055564CT>C uc003xqz.2 - 11 2250 c.2094_2094AG>G c.(2092-2094)aagfs p.K698fs ST18_uc011ldq.1_Frame_Shift_Del_p.K345fs|ST18_uc011ldr.1_Frame_Shift_Del_p.K663fs|ST18_uc011lds.1_Frame_Shift_Del_p.K603fs|ST18_uc003xra.2_Frame_Shift_Del_p.K698fs NM_014682 NP_055497 O60284 ST18_HUMAN Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA. 698 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) CTCCAGGAAACTTTTTTTCCT 0.428 STAU2 27067 broad.mit.edu 37 8 74507471 74507472 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:74507470_74507471A>AT uc003xzm.3 - 10 1432_1433 c.1091_1092T>AT c.(1090-1092)aatfs p.N364fs STAU2_uc011lfh.2_Frame_Shift_Ins_p.N260fs|STAU2_uc003xzn.3_Frame_Shift_Ins_p.N332fs|STAU2_uc011lfg.2_Frame_Shift_Ins_p.N192fs|STAU2_uc003xzo.3_Frame_Shift_Ins_p.N364fs|STAU2_uc003xzq.3_Frame_Shift_Ins_p.N144fs|STAU2_uc003xzp.3_Frame_Shift_Ins_p.N332fs|STAU2_uc011lfi.2_Frame_Shift_Ins_p.N326fs|STAU2_uc010lzk.3_Frame_Shift_Ins_p.N332fs|STAU2_uc010lzl.1_Frame_Shift_Ins_p.N192fs NM_001164380 NP_001157855 Q9NUL3 STAU2_HUMAN Homo sapiens staufen, RNA binding protein, homolog 2 (Drosophila) (STAU2), transcript variant 1, mRNA. 364 DRBM 4. transport endoplasmic reticulum|microtubule|nucleolus double-stranded RNA binding p.N332fs*67(1)|p.G364V(1) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1) 19 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) CTTCTGCAGCATTTTTTTTGGC 0.327 GDAP1 54332 broad.mit.edu 37 8 75263642 75263642 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:75263641_75263641GA>G uc003yah.3 + 1 329 c.250_250GA>G c.(250-252)gaafs p.E84fs GDAP1_uc011lfj.2_Intron|GDAP1_uc003yai.3_Frame_Shift_Del_p.E16fs NM_018972 NP_001035808 Q8TB36 GDAP1_HUMAN Homo sapiens ganglioside-induced differentiation-associated protein 1 (GDAP1), transcript variant 1, mRNA. 84 GST N-terminal. cytoplasm endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Breast(64;0.00769) Myeloproliferative disorder(644;0.0122) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234) TATCCACGGGGAAAACATAAT 0.433 SLC26A7 115111 broad.mit.edu 37 8 92406218 92406218 + Frame_Shift_Del DEL T T - rs149495064 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:92406217_92406217AT>A uc003yez.3 + 17 2124 c.1885_1885AT>A c.(1885-1887)attfs p.I629fs SLC26A7_uc003yex.3_Frame_Shift_Del_p.I629fs|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Frame_Shift_Del_p.I629fs NM_134266 NP_599028 Q8TE54 S26A7_HUMAN Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA. 629 STAS. basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) AGAGAAACCAATTTTTTTTGA 0.338 ESRP1 54845 broad.mit.edu 37 8 95683842 95683843 + Frame_Shift_Ins INS - - G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:95683841_95683842T>TG uc003ygq.4 + 10 1577_1578 c.1394_1395T>TG c.(1393-1395)ctgfs p.L465fs ESRP1_uc003ygr.4_Frame_Shift_Ins_p.L465fs|ESRP1_uc003ygs.4_Frame_Shift_Ins_p.L465fs|ESRP1_uc003ygt.4_Frame_Shift_Ins_p.L465fs|ESRP1_uc003ygu.4_Frame_Shift_Ins_p.L465fs|ESRP1_uc003ygv.3_Frame_Shift_Ins_p.L305fs|ESRP1_uc003ygw.3_Frame_Shift_Ins_p.L305fs NM_017697 NP_060167 Q6NXG1 ESRP1_HUMAN Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA. 465 RRM 3. RNA splicing|mRNA processing|regulation of RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2) 20 CTGGATTTCCTGGGGGAGTTCG 0.446 RIMS2 9699 broad.mit.edu 37 8 104927779 104927779 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:104927778_104927778TA>T uc003yls.3 + 4 1443 c.1202_1202TA>T c.(1201-1203)gtafs p.V401fs RIMS2_uc003ylp.3_Frame_Shift_Del_p.V623fs|RIMS2_uc003ylw.2_Frame_Shift_Del_p.V431fs|RIMS2_uc003ylq.3_Frame_Shift_Del_p.V431fs|RIMS2_uc003ylr.3_Frame_Shift_Del_p.V478fs|RIMS2_uc003ylt.3_Frame_Shift_Del_p.V24fs|RIMS2_uc003ylu.1_Frame_Shift_Del_p.V14fs|RIMS2_uc003ylv.1_Frame_Shift_Del_p.V14fs NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA. 701 intracellular protein transport cell junction|presynaptic membrane Rab GTPase binding|metal ion binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) ATTACTAAAGTAAAAAAAGGA 0.323 HNSCC(12;0.0054) EIF2C2 27161 broad.mit.edu 37 8 141554345 141554346 + Frame_Shift_Ins INS - - G rs148575703 byFrequency TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr8:141554344_141554345C>CG uc003yvn.3 - 13 1847_1848 c.1806_1807G>CG c.(1804-1809)cccgccfs p.P602fs EIF2C2_uc010meo.3_Frame_Shift_Ins_p.P602fs|EIF2C2_uc010men.3_Frame_Shift_Ins_p.P525fs NM_012154 NP_036286 Q9UKV8 AGO2_HUMAN Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA. 602 Piwi. mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 33 all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.158) CCATCCCCGGCGGGGGGGTGAG 0.644 TYRP1 7306 broad.mit.edu 37 9 12702411 12702414 + Frame_Shift_Del DEL ACAA ACAA - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:12702410_12702413TACAA>T uc003zkv.4 + 4 1231_1234 c.1053_1056TACAA>T c.(1051-1056)tctacafs p.S351fs NM_000550 NP_000541 P17643 TYRP1_HUMAN Homo sapiens tyrosinase-related protein 1 (TYRP1), mRNA. 351 melanin biosynthetic process clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity p.N353fs*31(2) NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1) 22 all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744) GBM - Glioblastoma multiforme(50;9.85e-06) ATTCCAACTCTACAAACAGTTTCC 0.387 Oculocutaneous Albinism BNC2 54796 broad.mit.edu 37 9 16436375 16436375 + Frame_Shift_Del DEL G G - rs142872531 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:16436374_16436374CG>C uc003zml.3 - 5 1958 c.1818_1818CG>G c.(1816-1818)ccgfs p.P606fs BNC2_uc011lmw.2_Frame_Shift_Del_p.P511fs|BNC2_uc003zmm.3_Frame_Shift_Del_p.P564fs|BNC2_uc003zmq.1_Frame_Shift_Del_p.P620fs|BNC2_uc003zmr.1_Frame_Shift_Del_p.P643fs|BNC2_uc003zmp.1_Frame_Shift_Del_p.P634fs|BNC2_uc010mij.1_Frame_Shift_Del_p.P528fs|BNC2_uc011lmv.2_Frame_Shift_Del_p.P432fs|BNC2_uc003zmo.1_Frame_Shift_Del_p.P528fs|BNC2_uc003zmj.3_Frame_Shift_Del_p.P371fs|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Frame_Shift_Del_p.P371fs|BNC2_uc003zmn.1_Frame_Shift_Del_p.P371fs NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN Homo sapiens basonuclin 2 (BNC2), mRNA. 606 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) CAGAGGGTGGCGGGGGGTGCT 0.567 RNF38 152006 broad.mit.edu 37 9 36342424 36342424 + Splice_Site DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:36342423_36342423TA>T uc003zzh.3 - 11 1577 c.1386_splice c.e11-1 p.L462_splice RNF38_uc003zzi.3_Splice_Site_p.L412_splice|RNF38_uc003zzj.3_Splice_Site_p.L379_splice|RNF38_uc003zzk.3_Splice_Site_p.L379_splice|RNF38_uc003zzl.3_Splice_Site_p.L386_splice|RNF38_uc003zzm.3_Splice_Site_p.L379_splice NM_022781 NP_919313 Q9H0F5 RNF38_HUMAN Homo sapiens ring finger protein 38 (RNF38), transcript variant 1, mRNA. 462 zinc ion binding breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1) 11 STAD - Stomach adenocarcinoma(86;0.228) ACTACACACCTAAAAAAAGCA 0.358 RG9MTD3 158234 broad.mit.edu 37 9 37763633 37763633 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:37763632_37763632GC>G uc004aai.3 + 3 379 c.302_302GC>G c.(301-303)tgcfs p.C101fs RG9MTD3_uc011lqo.2_Frame_Shift_Del_p.C101fs|RG9MTD3_uc011lqp.2_Intron|RG9MTD3_uc011lqq.2_Intron|RG9MTD3_uc004aaj.3_Non-coding_Transcript|RG9MTD3_uc004aak.3_Frame_Shift_Del_p.C6fs NM_144964 NP_659401 Q6PF06 RG9D3_HUMAN Homo sapiens RNA (guanine-9-) methyltransferase domain containing 3 (RG9MTD3), mRNA. 101 methyltransferase activity endometrium(1)|large_intestine(2)|lung(1) 4 GBM - Glioblastoma multiforme(29;0.00817)|Lung(182;0.226) TTAGGCATTTGCCCCCAGCAC 0.383 SECISBP2 79048 broad.mit.edu 37 9 91956315 91956316 + Frame_Shift_Ins INS - - G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:91956314_91956315T>TG uc004aqj.1 + 9 1435_1436 c.1355_1356T>TG c.(1354-1356)ttgfs p.L452fs SECISBP2_uc010mqo.1_Frame_Shift_Ins_p.L157fs|SECISBP2_uc004aqk.1_Frame_Shift_Ins_p.L379fs|SECISBP2_uc011ltk.1_Frame_Shift_Ins_p.L451fs|SECISBP2_uc011ltl.1_Frame_Shift_Ins_p.L384fs NM_024077 NP_076982 Q96T21 SEBP2_HUMAN Homo sapiens SECIS binding protein 2 (SECISBP2), mRNA. 452 translation nucleus mRNA 3'-UTR binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2) 32 CAGTTGGACTTGGGGGGCATGC 0.421 PALM2-AKAP2 445815 broad.mit.edu 37 9 112898790 112898790 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:112898789_112898789GC>G uc004bei.2 + 8 1853 c.1661_1661GC>G c.(1660-1662)agcfs p.S554fs PALM2-AKAP2_uc004bej.4_Frame_Shift_Del_p.S322fs|PALM2-AKAP2_uc004bek.4_Frame_Shift_Del_p.S322fs|PALM2-AKAP2_uc004bel.1_Frame_Shift_Del_p.S132fs|PALM2-AKAP2_uc011lwi.2_Frame_Shift_Del_p.S180fs|PALM2-AKAP2_uc004bem.3_Frame_Shift_Del_p.S180fs|PALM2-AKAP2_uc010mtw.1_Frame_Shift_Del_p.S140fs|PALM2-AKAP2_uc011lwj.2_Frame_Shift_Del_p.S91fs|PALM2-AKAP2_uc004ben.3_Frame_Shift_Del_p.S91fs NM_001136562 NP_001130034 Q9Y2D5 AKAP2_HUMAN Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA. 91 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 GGCGGCCTAAGCCCCCCTGTC 0.602 GOLGA1 2800 broad.mit.edu 37 9 127684160 127684160 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:127684159_127684159CT>C uc004bpc.3 - 8 916 c.574_574AG>G c.(574-576)gaafs p.E192fs GOLGA1_uc010mws.3_Non-coding_Transcript|GOLGA1_uc010mwt.1_Frame_Shift_Del_p.E167fs NM_002077 NP_002068 Q92805 GOGA1_HUMAN Homo sapiens golgin A1 (GOLGA1), mRNA. 192 Golgi cisterna membrane NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 20 AGACTTTCTTCTTTTTTTAAA 0.408 FUBP3 8939 broad.mit.edu 37 9 133506014 133506015 + Splice_Site INS - - G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:133506013_133506014A>AG uc004bzr.1 + 13 1226 c.1118_splice c.e13-1 p.G373_splice NM_003934 NP_003925 Q96I24 FUBP3_HUMAN Homo sapiens far upstream element (FUSE) binding protein 3 (FUBP3), mRNA. 373 KH 4. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|RNA binding|protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2) 21 OV - Ovarian serous cystadenocarcinoma(145;0.000279) TGCTGTCCGCAGGGGGTGAGAA 0.589 SETX 23064 broad.mit.edu 37 9 135203509 135203509 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr9:135203508_135203508CT>C uc004cbk.3 - 9 3660 c.3477_3477AG>G c.(3475-3477)aagfs p.K1159fs SETX_uc004cbj.3_Frame_Shift_Del_p.K778fs|SETX_uc010mzt.3_Frame_Shift_Del_p.K778fs NM_015046 NP_055861 Q7Z333 SETX_HUMAN Homo sapiens senataxin (SETX), mRNA. 1159 RNA processing|cell death|double-strand break repair cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) TTCTCTTAGGCTTTTTTACTT 0.388 IDI1 3422 broad.mit.edu 37 10 1087271 1087272 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:1087270_1087271C>CT uc001iga.3 - 4 829_830 c.711_712G>AG c.(709-714)aaagaafs p.K237fs IDI2-AS1_uc010qaf.1_Intron|IDI2-AS1_uc001ifx.3_Intron|IDI2-AS1_uc001ifw.3_Intron|IDI2-AS1_uc001ify.3_Intron|IDI1_uc001ifz.3_Frame_Shift_Ins_p.K181fs|IDI1_uc001igb.3_Non-coding_Transcript|IDI1_uc001igc.3_Frame_Shift_Ins_p.K181fs NM_004508 NP_004499 Q13907 IDI1_HUMAN Homo sapiens isopentenyl-diphosphate delta isomerase 1 (IDI1), mRNA. 180 carotenoid biosynthetic process|cholesterol biosynthetic process cytosol|peroxisome hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding large_intestine(3)|lung(2)|prostate(1) 6 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.221) Epithelial(11;0.0972) TTCAGAAGTTCTTTTAGTTCTT 0.327 KIN 22944 broad.mit.edu 37 10 7817765 7817765 + Splice_Site DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:7817764_7817764TA>T uc001ijt.3 - 6 653 c.559_splice c.e6-1 p.E187_splice KIN_uc010qaz.2_Splice_Site|KIN_uc010qba.2_Splice_Site_p.E81_splice NM_012311 NP_036443 O60870 KIN17_HUMAN Homo sapiens KIN, antigenic determinant of recA protein homolog (mouse) (KIN), transcript variant 1, mRNA. 187 DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing cytoplasm|nuclear matrix RNA binding|double-stranded DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2) 19 AGGGACCTCCTAAAAAAAAGA 0.318 GATA3 2625 broad.mit.edu 37 10 8115780 8115780 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:8115779_8115779CA>C uc001ijz.3 + 5 1685 c.1128_1128CA>C c.(1126-1128)tgcfs p.C376fs GATA3_uc001ika.3_Frame_Shift_Del_p.C375fs NM_001002295 NP_001002295 P23771 GATA3_HUMAN Homo sapiens GATA binding protein 3 (GATA3), transcript variant 1, mRNA. 375 T cell receptor signaling pathway|TOR signaling cascade|aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of T cell differentiation|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|transcription coactivator activity|transcription factor binding|zinc ion binding NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2) 87 CCAAAAAGTGCAAAAAAGTGC 0.463 """F, N, S""" breast """HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)""" CACNB2 783 broad.mit.edu 37 10 18828599 18828600 + Frame_Shift_Ins INS - - A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:18828598_18828599C>CA uc001ipr.2 + 13 1988_1989 c.1928_1929C>CA c.(1927-1929)tcafs p.S643fs CACNB2_uc001ipt.2_Frame_Shift_Ins_p.S605fs|CACNB2_uc009xjz.1_Frame_Shift_Ins_p.S393fs|CACNB2_uc001ips.2_Frame_Shift_Ins_p.S619fs|CACNB2_uc001ipu.3_Frame_Shift_Ins_p.S615fs|CACNB2_uc001ipv.3_Frame_Shift_Ins_p.S591fs|CACNB2_uc009xka.2_Frame_Shift_Ins_p.S577fs|CACNB2_uc001ipw.2_Frame_Shift_Ins_p.S550fs|CACNB2_uc001ipx.2_Frame_Shift_Ins_p.S588fs|CACNB2_uc001ipz.2_Frame_Shift_Ins_p.S565fs|CACNB2_uc001ipy.2_Frame_Shift_Ins_p.S589fs|CACNB2_uc010qco.1_Frame_Shift_Ins_p.S557fs|CACNB2_uc001iqa.2_Frame_Shift_Ins_p.S595fs|NSUN6_uc001iqb.3_Intron NM_201596 NP_963890 Q08289 CACB2_HUMAN Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA. 643 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GAAGTGATATCAAAAAAACGGA 0.450 PIP4K2A 5305 broad.mit.edu 37 10 22830828 22830828 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:22830827_22830827TG>T uc001irl.4 - 7 1190 c.942_942CA>A c.(940-942)ccafs p.P314fs PIP4K2A_uc010qcu.2_Frame_Shift_Del_p.P174fs NM_005028 NP_005019 P48426 PI42A_HUMAN Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, alpha (PIP4K2A), mRNA. 314 PIPK. 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 29 CGGGGCTATCTGGGGGGGTTC 0.582 GPR158 57512 broad.mit.edu 37 10 25887916 25887917 + Frame_Shift_Ins INS - - C rs147989919 byFrequency TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:25887915_25887916G>GC uc001isj.3 + 10 3420_3421 c.3360_3361G>GC c.(3358-3363)ctgcccfs p.L1120fs GPR158_uc001isk.3_Frame_Shift_Ins_p.L495fs NM_020752 NP_065803 Q5T848 GP158_HUMAN Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA. 1120 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 GCGAAGAACTGCCCCCCAAAGC 0.485 ANKRD26 22852 broad.mit.edu 37 10 27295869 27295869 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:27295868_27295868AT>A uc009xku.1 - 32 5149 c.4977_4977AT>T c.(4975-4977)aatfs p.N1659fs ANKRD26_uc001itg.2_Frame_Shift_Del_p.N1345fs|ANKRD26_uc001ith.2_Frame_Shift_Del_p.N1658fs NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA. 1658 centrosome breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 CTCTAGTTATATTTTTTTCCA 0.274 JMJD1C 221037 broad.mit.edu 37 10 64950825 64950828 + Frame_Shift_Del DEL TCTT TCTT - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:64950824_64950827CTCTT>C uc001jmn.3 - 16 6418_6421 c.6118_6121AAGAG>G c.(6118-6123)agagaafs p.R2040fs JMJD1C_uc001jml.3_Frame_Shift_Del_p.R1803fs|JMJD1C_uc001jmm.3_Frame_Shift_Del_p.R1752fs|JMJD1C_uc010qiq.2_Frame_Shift_Del_p.R1858fs|JMJD1C_uc009xpi.3_Frame_Shift_Del_p.R1858fs|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc001jmo.3_5'UTR NM_032776 NP_116165 Q15652 JHD2C_HUMAN Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA. 2040 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) TTGTCTTGTTCTCTTTCTTCTTTA 0.368 SH3PXD2A 9644 broad.mit.edu 37 10 105363001 105363002 + Frame_Shift_Ins INS - - G rs11818820 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:105363000_105363001T>TG uc010qqu.1 - 11 1786_1787 c.1719_1720A>CA c.(1717-1722)cccaaafs p.P573fs SH3PXD2A_uc010qqr.2_Intron|SH3PXD2A_uc010qqs.1_Frame_Shift_Ins_p.P465fs|SH3PXD2A_uc010qqt.1_Frame_Shift_Ins_p.P507fs|SH3PXD2A_uc009xxn.1_Frame_Shift_Ins_p.P465fs|SH3PXD2A_uc001kxj.1_Frame_Shift_Ins_p.P630fs NM_014631 NP_055446 Q5TCZ1 SPD2A_HUMAN Homo sapiens SH3 and PX domains 2A (SH3PXD2A), mRNA. 658 cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding p.R572W(2) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) GAGCCTGATTTGGGGGAGTTTT 0.584 PRDX3 10935 broad.mit.edu 37 10 120936634 120936635 + Frame_Shift_Ins INS - - C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr10:120936633_120936634G>GC uc001lec.3 - 1 111_112 c.68_69C>GC c.(67-69)ggcfs p.G23fs PRDX3_uc021pzp.1_Frame_Shift_Ins_p.G23fs NM_006793 NP_006784 P30048 PRDX3_HUMAN Homo sapiens peroxiredoxin 3 (PRDX3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 23 cell redox homeostasis|hydrogen peroxide catabolic process|mitochondrion organization|myeloid cell differentiation|negative regulation of kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|regulation of mitochondrial membrane potential|response to lipopolysaccharide early endosome|mitochondrion alkyl hydroperoxide reductase activity|caspase inhibitor activity|peroxidase activity|peroxiredoxin activity|protein C-terminus binding|protein kinase binding p.I24fs*50(1) endometrium(1)|lung(2) 3 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0245) TGGCAGAAATGCCCCAAGGAAT 0.475 EPS8L2 64787 broad.mit.edu 37 11 723305 723305 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:723304_723304AC>A uc001lqt.3 + 14 1652 c.1405_1405AC>A c.(1405-1407)accfs p.T469fs EPS8L2_uc001lqu.3_Frame_Shift_Del_p.T469fs|EPS8L2_uc010qwk.2_Frame_Shift_Del_p.T485fs|EPS8L2_uc001lqv.3_Frame_Shift_Del_p.T424fs|EPS8L2_uc001lqw.3_Frame_Shift_Del_p.T81fs|EPS8L2_uc001lqx.3_Frame_Shift_Del_p.T81fs|EPS8L2_uc001lqy.3_5'Flank NM_022772 NP_073609 Q9H6S3 ES8L2_HUMAN Homo sapiens EPS8-like 2 (EPS8L2), mRNA. 469 cytoplasm p.D473fs*30(1) NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1) 13 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703) TTCAGAGCCCACCCCCCCGGG 0.587 OREG0020659 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TALDO1 6888 broad.mit.edu 37 11 755877 755885 + Splice_Site DEL AGCCATCGA AGCCATCGA - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:755876_755884TAGCCATCGA>T uc001lqz.3 + 2 148 c.98_splice c.e2-1 p.A33_splice TALDO1_uc010qwl.2_Splice_Site_p.A33_splice|TALDO1_uc001lra.3_Splice_Site_p.A33_splice NM_006755 NP_006746 P37837 TALDO_HUMAN Homo sapiens transaldolase 1 (TALDO1), mRNA. 33 energy reserve metabolic process|xylulose biosynthetic process cytosol protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2) 14 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712) ACTATTTCCCTAGCCATCGACGAGTACAA 0.541 PGAP2 27315 broad.mit.edu 37 11 3846303 3846305 + In_Frame_Del DEL CTT CTT - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:3846302_3846304CCTT>C uc010qxw.2 + 6 957_959 c.932_934CCTT>C c.(931-936)tccttc>tCtc p.F313del PGAP2_uc001lyl.3_In_Frame_Del_p.F213del|PGAP2_uc010qxy.2_In_Frame_Del_p.F248del|PGAP2_uc001lyn.4_In_Frame_Del_p.146_147LL>L|PGAP2_uc010qya.2_Non-coding_Transcript|PGAP2_uc010qyb.2_In_Frame_Del_p.196_197LL>L|PGAP2_uc001lys.3_In_Frame_Del_p.F256del|PGAP2_uc001lyt.3_In_Frame_Del_p.F39del|PGAP2_uc021qcm.1_In_Frame_Del_p.F195del NM_014489 NP_055304 Q9UHJ9 PGAP2_HUMAN Homo sapiens post-GPI attachment to proteins 2 (PGAP2), transcript variant 1, mRNA. 256 GPI anchor biosynthetic process Golgi membrane|endoplasmic reticulum membrane|integral to membrane protein transporter activity NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1) 11 AACTTCATCTCCTTCTTCTCGGC 0.552 OREG0020703 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) OR51L1 119682 broad.mit.edu 37 11 5020584 5020585 + Frame_Shift_Ins INS - - T rs146166863 byFrequency TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:5020583_5020584G>GT uc010qyu.2 + 0 371_372 c.371_372G>GT c.(370-372)cgtfs p.R124fs NM_001004755 NP_001004755 Q8NGJ5 O51L1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA. 124 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R124H(2)|p.R124L(2) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1) 31 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) GCCTTTGACCGTTTTGTTGCTA 0.505 AMPD3 272 broad.mit.edu 37 11 10500145 10500146 + Frame_Shift_Ins INS - - C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:10500144_10500145G>GC uc001min.1 + 2 665_666 c.320_321G>GC c.(319-321)ggcfs p.G107fs AMPD3_uc010rbz.1_Intron|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc009yfx.1_Frame_Shift_Ins_p.G98fs|AMPD3_uc001mio.1_Frame_Shift_Ins_p.G98fs|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Frame_Shift_Ins_p.G105fs|AMPD3_uc009yfy.2_Frame_Shift_Ins_p.G98fs NM_000480 NP_001165902 Q01432 AMPD3_HUMAN Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA. 98 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1) 25 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) GATTGGAAGGGCCCCCCGGCAG 0.579 MAPK8IP1 9479 broad.mit.edu 37 11 45926551 45926551 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:45926550_45926550TA>T uc001nbr.3 + 9 2247 c.1922_1922TA>T c.(1921-1923)ttafs p.L641fs NM_005456 NP_005447 Q9UQF2 JIP1_HUMAN Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 (MAPK8IP1), mRNA. 641 PID. vesicle-mediated transport nucleus|perinuclear region of cytoplasm MAP-kinase scaffold activity|kinesin binding|protein kinase inhibitor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2) 24 GBM - Glioblastoma multiforme(35;0.231) TTTTTCCAGTTAAAAAACATC 0.522 C11orf94 143678 broad.mit.edu 37 11 45928456 45928457 + Frame_Shift_Ins INS - - G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:45928455_45928456A>AG uc001nbs.4 - 1 176_177 c.139_140T>CT c.(139-141)ctgfs p.L47fs NM_001080446 NP_001073915 C9JXX5 CK094_HUMAN Homo sapiens chromosome 11 open reading frame 94 (C11orf94), mRNA. 47 extracellular region NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|ovary(1)|pancreas(1)|prostate(1) 7 CGAGAGTTCCAGGGGGGCGGAA 0.619 CELF1 10658 broad.mit.edu 37 11 47494745 47494746 + Frame_Shift_Ins INS - - G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:47494744_47494745T>TG uc001nfp.3 - 13 1714_1715 c.1312_1313A>CA c.(1312-1314)cagfs p.Q438fs CELF1_uc001nfl.3_Frame_Shift_Ins_p.Q410fs|CELF1_uc010rhm.2_Frame_Shift_Ins_p.Q409fs|CELF1_uc001nfm.3_Frame_Shift_Ins_p.Q407fs|CELF1_uc001nfk.2_Frame_Shift_Ins_p.Q436fs|CELF1_uc001nfn.3_Frame_Shift_Ins_p.Q406fs|CELF1_uc001nfr.1_Frame_Shift_Ins_p.Q410fs NM_001025596 NP_001020767 Q92879 CELF1_HUMAN Homo sapiens CUGBP, Elav-like family member 1 (CELF1), transcript variant 3, mRNA. 410 RRM 3. RNA interference|embryo development|mRNA splice site selection|regulation of RNA splicing cytoplasm|nucleus|ribonucleoprotein complex BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2) 18 ACCAAACTCCTGGGGCAGGTGG 0.500 OR4A16 81327 broad.mit.edu 37 11 55111419 55111420 + Frame_Shift_Ins INS - - T rs141537673 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:55111418_55111419G>GT uc010rie.2 + 0 742_743 c.742_743G>GT c.(742-744)gttfs p.V248fs NM_001005274 NP_001005274 Q8NH70 O4A16_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA. 248 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 GGTTGCCCTCGTTTTTGTTCCC 0.396 CCDC88B 283234 broad.mit.edu 37 11 64111891 64111892 + Frame_Shift_Ins INS - - A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:64111890_64111891G>GA uc001nzy.3 + 13 1926_1927 c.1877_1878G>GA c.(1876-1878)ggafs p.G626fs CCDC88B_uc009ypo.2_Frame_Shift_Ins_p.G623fs|CCDC88B_uc001nzz.1_Frame_Shift_Ins_p.G275fs NM_032251 NP_115627 A6NC98 CC88B_HUMAN Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA. 626 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GAGACAGAGGGAAGAGAGGCTC 0.653 MEN1 4221 broad.mit.edu 37 11 64575083 64575084 + Frame_Shift_Ins INS - - CA TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:64575082_64575083G>GCA uc001obj.3 - 3 812_813 c.739_740C>TGC c.(739-741)gccfs p.A247fs MEN1_uc001obk.3_Frame_Shift_Ins_p.A247fs|MEN1_uc001obl.3_Frame_Shift_Ins_p.A207fs|MEN1_uc001obm.3_Frame_Shift_Ins_p.A242fs|MEN1_uc001obn.3_Frame_Shift_Ins_p.A247fs|MEN1_uc001obo.3_Frame_Shift_Ins_p.A247fs|MEN1_uc001obq.3_Frame_Shift_Ins_p.A247fs|MEN1_uc001obr.3_Frame_Shift_Ins_p.A247fs NM_130800 NP_570716 O00255 MEN1_HUMAN Homo sapiens multiple endocrine neoplasia I (MEN1), transcript variant e1B, mRNA. 247 Interaction with FANCD2. A -> V (in MEN1; almost complete loss of histone methylation; loss of JUND- binding; no repression of JUND transactivation). DNA repair|MAPKKK cascade|histone lysine methylation|negative regulation of JNK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to UV|response to gamma radiation|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction R-SMAD binding|Y-form DNA binding|double-stranded DNA binding|four-way junction DNA binding|protein N-terminus binding|protein binding, bridging|transcription regulatory region DNA binding p.A242_I247del(2)|p.C241fs*39(1) NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2) 337 AGGGTTGATGGCACACACCATG 0.569 """D, Mis, N, F, S""" """parathyroid tumors, Pancreatic neuroendocrine tumors""" """parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid""" Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated SLC25A45 283130 broad.mit.edu 37 11 65146856 65146856 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:65146855_65146855AC>A uc001odr.1 - 4 535 c.331_331GT>T c.(331-333)ttcfs p.F111fs SLC25A45_uc009yqi.1_Intron|SLC25A45_uc001odq.1_Frame_Shift_Del_p.F87fs|SLC25A45_uc001ods.1_Frame_Shift_Del_p.F69fs|SLC25A45_uc001odt.1_Frame_Shift_Del_p.F69fs NM_182556 NP_001070709 Q8N413 S2545_HUMAN Homo sapiens solute carrier family 25, member 45 (SLC25A45), transcript variant 1, mRNA. 111 transmembrane transport integral to membrane|mitochondrial inner membrane binding p.G110W(1) endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 14 ACCTGCAGGAACCCCCCGGTG 0.657 SHANK2 22941 broad.mit.edu 37 11 70507741 70507742 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:70507740_70507741C>CT uc001oqc.3 - 12 1816_1817 c.1704_1705G>AG c.(1702-1707)aaagacfs p.K568fs SHANK2_uc010rqn.2_Frame_Shift_Ins_p.K44fs|SHANK2_uc001opz.3_Frame_Shift_Ins_p.K44fs|BC127192_uc009ysn.1_Intron|SHANK2_uc010rqp.1_Frame_Shift_Ins_p.K44fs NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA. 253 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) CCCTCATTGTCTTTTTTCTGCA 0.510 C2CD3 26005 broad.mit.edu 37 11 73829364 73829364 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:73829363_73829363AT>A uc001ouu.2 - 8 1657 c.1430_1430AT>T c.(1429-1431)atafs p.I477fs C2CD3_uc001ouv.2_Frame_Shift_Del_p.I477fs NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA. 477 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) TGACTGGCTTATTTTTTTAGA 0.428 AMICA1 120425 broad.mit.edu 37 11 118068766 118068768 + In_Frame_Del DEL TCT TCT - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:118068765_118068767GTCT>G uc001psk.2 - 7 1125_1127 c.951_953AGAC>C c.(949-954)aagact>aaCt p.317_318KT>N AMICA1_uc001psg.2_In_Frame_Del_p.127_128KT>N|AMICA1_uc001psh.2_In_Frame_Del_p.278_279KT>N|AMICA1_uc009yzw.1_Non-coding_Transcript|AMICA1_uc001psi.2_In_Frame_Del_p.307_308KT>N|AMICA1_uc010rxw.1_In_Frame_Del_p.278_279KT>N|AMICA1_uc010rxx.1_In_Frame_Del_p.317_318KT>N|AMICA1_uc001psl.1_In_Frame_Del_p.273_274KT>N NM_001098526 NP_001091996 Q86YT9 JAML1_HUMAN Homo sapiens adhesion molecule, interacts with CXADR antigen 1 (AMICA1), transcript variant 1, mRNA. 317 blood coagulation|cell adhesion|leukocyte migration|regulation of immune response cell junction|integral to membrane central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2) 20 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) CTCTGGATTAGTCTTCTTCGTGT 0.443 OREG0021382 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) DPAGT1 1798 broad.mit.edu 37 11 118969143 118969144 + Frame_Shift_Ins INS - - A rs35482889 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:118969142_118969143G>GA uc001pvi.3 - 4 1118_1119 c.698_699C>TC c.(697-699)ttcfs p.F233fs H2AFX_uc001pvg.3_5'Flank|DPAGT1_uc001pvj.3_Frame_Shift_Ins_p.F126fs|DPAGT1_uc001pvk.3_Frame_Shift_Ins_p.F61fs|DPAGT1_uc001pvm.1_Frame_Shift_Ins_p.F126fs|DPAGT1_uc010rza.2_Frame_Shift_Ins_p.F126fs NM_001382 NP_001373 Q9H3H5 GPT_HUMAN Homo sapiens dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) (DPAGT1), mRNA. 233 dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization integral to endoplasmic reticulum membrane|microsome UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity|phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups p.?(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 17 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.55e-05) CCAAAGTGGTGAAAAAAAAGGG 0.441 FLI1 2313 broad.mit.edu 37 11 128680805 128680806 + Frame_Shift_Ins INS - - G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr11:128680804_128680805C>CG uc010sbu.2 + 8 1623_1624 c.1280_1281C>CG c.(1279-1281)acgfs p.T427fs FLI1_uc010sbt.2_Frame_Shift_Ins_p.T234fs|FLI1_uc010sbv.2_Frame_Shift_Ins_p.T394fs|FLI1_uc009zci.3_Frame_Shift_Ins_p.T361fs NM_002017 NP_001161153 Q01543 FLI1_HUMAN Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA. 427 hemostasis|organ morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/FLI1(2569) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2) 31 all_hematologic(175;0.0641) Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182) OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327) ACCTCCCCCACGGGGGGAATCT 0.564 T EWSR1 Ewing sarcoma RAD51AP1 10635 broad.mit.edu 37 12 4668106 4668107 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:4668105_4668106C>CT uc001qmw.3 + 9 1161_1162 c.1005_1006C>CT c.(1003-1008)ggcttgfs p.G335fs RAD51AP1_uc001qmu.3_Frame_Shift_Ins_p.G318fs|RAD51AP1_uc010sep.2_Frame_Shift_Ins_p.G216fs|RAD51AP1_uc010seq.2_Frame_Shift_Ins_p.G216fs|RAD51AP1_uc009zeg.3_Non-coding_Transcript NM_001130862 NP_001124334 Q96B01 R51A1_HUMAN Homo sapiens RAD51 associated protein 1 (RAD51AP1), transcript variant 1, mRNA. 335 Interaction with RAD51. double-strand break repair via homologous recombination RNA binding|double-stranded DNA binding|protein binding|single-stranded DNA binding p.L319M(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1) 13 Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389) TCCGCCTTGGCTTGTCCAGATT 0.490 DYRK4 8798 broad.mit.edu 37 12 4719362 4719362 + Frame_Shift_Del DEL A A - rs80196697 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:4719361_4719361GA>G uc009zeh.1 + 12 1443 c.1401_1401GA>G c.(1399-1401)gggfs p.G467fs DYRK4_uc001qmx.3_Frame_Shift_Del_p.G352fs|DYRK4_uc001qmy.2_Frame_Shift_Del_p.G352fs|DYRK4_uc021qtq.1_Frame_Shift_Del_p.G206fs|DYRK4_uc001qmz.2_Frame_Shift_Del_p.G66fs|DYRK4_uc001qna.2_5'UTR|DYRK4_uc010ser.2_5'UTR NM_003845 NP_003836 Q9NR20 DYRK4_HUMAN Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA. 352 Golgi apparatus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.G754G(1) central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 Colorectal(7;0.103) ACAACAGGGGGAAAAAAAGAT 0.393 ZNF384 171017 broad.mit.edu 37 12 6787521 6787521 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:6787520_6787520AG>A uc010sfh.2 - 5 729 c.459_459CT>T c.(457-459)cctfs p.P153fs ZNF384_uc001qqa.3_Frame_Shift_Del_p.P153fs|ZNF384_uc001qqd.3_Intron|ZNF384_uc009zew.1_Frame_Shift_Del_p.P8fs NM_001135734 NP_001129206 Q8TF68 ZN384_HUMAN Homo sapiens zinc finger protein 384 (ZNF384), transcript variant 7, mRNA. 153 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/ZNF384(4) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1) 18 CTTGTGAGCCAGGGGGAAGAG 0.582 T """EWSR1, TAF15 """ ALL KLRC2 3822 broad.mit.edu 37 12 10587929 10587929 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:10587928_10587928GT>G uc001qyh.3 - 1 276 c.269_269AC>C c.(268-270)acafs p.T90fs KLRC2_uc010she.1_Frame_Shift_Del_p.T90fs|KLRC2_uc001qyk.2_Frame_Shift_Del_p.T90fs NM_002261 NP_002252 P26717 NKG2C_HUMAN Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 1, mRNA. 90 cellular defense response integral to plasma membrane sugar binding|transmembrane receptor activity kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 AAGAACTATTGTTTTTAACAC 0.398 HEBP1 50865 broad.mit.edu 37 12 13128322 13128322 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:13128321_13128321TC>T uc001rbd.3 - 3 686 c.491_491GA>A c.(490-492)gacfs p.D164fs NM_015987 NP_057071 Q9NRV9 HEBP1_HUMAN Homo sapiens heme binding protein 1 (HEBP1), mRNA. 164 circadian rhythm extracellular region breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1) 7 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.153) GAAGTAGATGTCCCCCCGGTA 0.582 ATF7IP 55729 broad.mit.edu 37 12 14577802 14577803 + Frame_Shift_Ins INS - - A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:14577801_14577802G>GA uc001rbw.3 + 1 1110_1111 c.952_953G>GA c.(952-954)gaafs p.E318fs ATF7IP_uc010shs.1_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rbu.3_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rbv.1_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rbx.3_Frame_Shift_Ins_p.E318fs|ATF7IP_uc010sht.1_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rby.4_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rbz.1_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rca.3_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rcb.3_5'Flank NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA. 318 DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 TGATTTTCTTGAAAAAAATGGA 0.317 ATF7IP 55729 broad.mit.edu 37 12 14578360 14578360 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:14578359_14578359GA>G uc001rbw.3 + 1 1668 c.1510_1510GA>G c.(1510-1512)gaafs p.E504fs ATF7IP_uc010shs.1_Frame_Shift_Del_p.E504fs|ATF7IP_uc001rbu.3_Frame_Shift_Del_p.E504fs|ATF7IP_uc001rbv.1_Frame_Shift_Del_p.E504fs|ATF7IP_uc001rbx.3_Frame_Shift_Del_p.E504fs|ATF7IP_uc010sht.1_Frame_Shift_Del_p.E504fs|ATF7IP_uc001rby.4_Frame_Shift_Del_p.E504fs|ATF7IP_uc001rbz.1_Frame_Shift_Del_p.E504fs|ATF7IP_uc001rca.3_Frame_Shift_Del_p.E504fs|ATF7IP_uc001rcb.3_Frame_Shift_Del_p.E115fs NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA. 504 Glu-rich. DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 TATTTCGGGTGAAAAAGATGA 0.353 TROAP 10024 broad.mit.edu 37 12 49725381 49725382 + Frame_Shift_Ins INS - - C rs78835037 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:49725380_49725381G>GC uc009zlh.3 + 13 2754_2755 c.2587_2588G>GC c.(2587-2589)gccfs p.A863fs TROAP_uc001rtx.4_Frame_Shift_Ins_p.A773fs NM_005480 NP_005471 Q12815 TROAP_HUMAN Homo sapiens trophinin associated protein (tastin) (TROAP), transcript variant 1, mRNA. 0 cell adhesion cytoplasm breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 32 TGGTTCTGCTGCCCCCCAGGGC 0.550 OREG0021792 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) LARP4 113251 broad.mit.edu 37 12 50847267 50847268 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:50847266_50847267A>AT uc001rwp.2 + 8 1030_1031 c.828_829A>AT c.(826-831)acatttfs p.T276fs LARP4_uc001rwq.2_Intron|LARP4_uc001rwt.2_Intron|LARP4_uc001rws.2_Frame_Shift_Ins_p.T275fs|LARP4_uc001rwr.2_Frame_Shift_Ins_p.T276fs|LARP4_uc021qxv.1_Frame_Shift_Ins_p.T206fs|LARP4_uc009zlr.1_Frame_Shift_Ins_p.T95fs|LARP4_uc001rwm.3_Frame_Shift_Ins_p.T276fs|LARP4_uc001rwn.3_Frame_Shift_Ins_p.T206fs NM_052879 NP_443111 Q71RC2 LARP4_HUMAN Homo sapiens La ribonucleoprotein domain family, member 4 (LARP4), transcript variant 1, mRNA. 276 RRM. RNA binding|nucleotide binding breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1) 23 CCATCAATACATTTTTTGCTAA 0.322 ITGA7 3679 broad.mit.edu 37 12 56094788 56094788 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:56094787_56094787TG>T uc001shh.3 - 3 786 c.566_566CA>A c.(565-567)caafs p.Q189fs ITGA7_uc001shg.3_Frame_Shift_Del_p.Q189fs|ITGA7_uc010sps.2_Frame_Shift_Del_p.Q92fs|ITGA7_uc009znx.3_Frame_Shift_Del_p.Q76fs NM_001144996 NP_001138468 Q13683 ITA7_HUMAN Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA. 189 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 TTCATGGCCTTGGGGGCGTCC 0.582 MBD6 114785 broad.mit.edu 37 12 57921401 57921401 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:57921400_57921400AC>A uc001soj.1 + 7 2417 c.2193_2193AC>A c.(2191-2193)agafs p.R731fs MBD6_uc001sok.1_Frame_Shift_Del_p.R598fs|MBD6_uc001sol.1_Non-coding_Transcript NM_052897 NP_443129 Q96DN6 MBD6_HUMAN Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA. 731 Pro-rich. chromosome|nucleus DNA binding|chromatin binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 ACTCAGGGAGACCCCCCCAAC 0.602 MON2 23041 broad.mit.edu 37 12 62960172 62960172 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:62960171_62960171CA>C uc001sre.3 + 28 4655 c.4264_4264CA>C c.(4264-4266)caafs p.Q1422fs MON2_uc010ssn.2_Frame_Shift_Del_p.Q1416fs|MON2_uc009zqj.3_Frame_Shift_Del_p.Q1422fs|MON2_uc010ssl.2_Frame_Shift_Del_p.Q1350fs|MON2_uc010ssm.2_Frame_Shift_Del_p.Q1393fs|MON2_uc001srf.3_Frame_Shift_Del_p.Q1185fs|MON2_uc001srg.3_Frame_Shift_Del_p.Q291fs NM_015026 NP_055841 Q7Z3U7 MON2_HUMAN Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA. 1423 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 57 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) GGATTTATACCAAAAAACAGC 0.358 APAF1 317 broad.mit.edu 37 12 99071207 99071208 + Frame_Shift_Ins INS - - A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:99071206_99071207C>CA uc001tfz.3 + 12 2374_2375 c.1797_1798C>CA c.(1795-1800)aacaaafs p.N599fs APAF1_uc001tfy.3_Frame_Shift_Ins_p.N588fs|APAF1_uc001tga.3_Frame_Shift_Ins_p.N588fs|APAF1_uc001tgb.3_Frame_Shift_Ins_p.N599fs|APAF1_uc001tgc.3_Intron|APAF1_uc009zto.3_Frame_Shift_Ins_p.N8fs NM_181861 NP_863651 O14727 APAF_HUMAN Homo sapiens apoptotic peptidase activating factor 1 (APAF1), transcript variant 3, mRNA. 599 activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development Golgi apparatus|cytosol|nucleus ATP binding|caspase activator activity|protein binding p.N602fs*23(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1) 42 Adenosine triphosphate(DB00171) TATTTAGAAACAAAAAAAACAT 0.347 PXN 5829 broad.mit.edu 37 12 120657167 120657168 + RNA INS - - C rs61741284 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr12:120657166_120657167T>TC uc001tya.3 - 0 c.754_755A>GA PXN_uc001txu.3_5'Flank|PXN_uc001txx.3_Intron|PXN_uc001txt.3_Intron|PXN_uc001txv.3_Intron|PXN_uc001txy.3_Intron|PXN_uc001txz.3_Non-coding_Transcript P49023 PAXI_HUMAN Homo sapiens cDNA: FLJ23042 fis, clone LNG02323. cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly cytoplasm|focal adhesion|lamellipodium|microtubule associated complex beta-catenin binding|vinculin binding|zinc ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGGCCACACTTCCCCTCTCGGT 0.634 ATP12A 479 broad.mit.edu 37 13 25255820 25255821 + Frame_Shift_Ins INS - - A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr13:25255819_25255820G>GA uc010aaa.3 + 1 462_463 c.129_130G>GA c.(127-132)aagaaafs p.K43fs ATP12A_uc001upp.3_Frame_Shift_Ins_p.K43fs NM_001185085 NP_001172014 P54707 AT12A_HUMAN Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA. 43 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) AACTCAAAAAGAAAAATCACAA 0.525 LMO7 4008 broad.mit.edu 37 13 76415965 76415966 + Frame_Shift_Ins INS - - GA TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr13:76415964_76415965T>TGA uc021rkq.1 + 23 4211_4212 c.3876_3877T>TGA c.(3874-3879)attgagfs p.I1292fs LMO7_uc010thv.2_Frame_Shift_Ins_p.I1010fs|LMO7_uc001vjt.1_Frame_Shift_Ins_p.I958fs|LMO7_uc001vjv.3_Frame_Shift_Ins_p.I1059fs|LMO7_uc010thw.2_Frame_Shift_Ins_p.I936fs|LMO7_uc001vjw.1_Frame_Shift_Ins_p.I965fs NM_005358 NP_005349 Q8WWI1 LMO7_HUMAN Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA. 1344 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) AGCTTGTTATTGAGAGAGAGAG 0.535 APEX1 328 broad.mit.edu 37 14 20925577 20925578 + Frame_Shift_Del DEL CT CT - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:20925576_20925577ACT>A uc001vxg.3 + 4 1198_1199 c.866_867ACT>A c.(865-867)cacfs p.H289fs OSGEP_uc001vxf.3_5'Flank|APEX1_uc001vxh.3_Frame_Shift_Del_p.H289fs|APEX1_uc001vxi.3_Frame_Shift_Del_p.H289fs|APEX1_uc021rnr.1_Frame_Shift_Del_p.H289fs NM_001641 NP_001632 P27695 APEX1_HUMAN Homo sapiens APEX nuclease (multifunctional DNA repair enzyme) 1 (APEX1), transcript variant 1, mRNA. 289 Mitochondrial targeting sequence (MTS). DNA demethylation|DNA recombination|base-excision repair|positive regulation of DNA repair|positive regulation of anti-apoptosis|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome 3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|RNA binding|chromatin DNA binding|damaged DNA binding|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity breast(2)|endometrium(1)|large_intestine(4)|ovary(2) 9 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;1.09e-07)|all cancers(55;1.19e-06) GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193) Lucanthone(DB04967) TTGTTGTCCCACTCTCTGTTAC 0.490 Other BER factors CPNE6 9362 broad.mit.edu 37 14 24542776 24542777 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:24542775_24542776A>AT uc010tnv.2 + 3 547_548 c.401_402A>AT c.(400-402)tatfs p.Y134fs CPNE6_uc001wlm.3_5'UTR|CPNE6_uc001wll.3_Frame_Shift_Ins_p.Y79fs|CPNE6_uc001wln.3_5'Flank NM_006032 NP_006023 O95741 CPNE6_HUMAN Homo sapiens copine VI (neuronal) (CPNE6), mRNA. 79 lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport calcium ion binding|transporter activity endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 22 GBM - Glioblastoma multiforme(265;0.0184) GCCCTTGAGTATTTTTTTGAGG 0.594 FANCM 57697 broad.mit.edu 37 14 45642288 45642289 + Frame_Shift_Ins INS - - CT rs117392855 by1000genomes TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:45642287_45642288A>ACT uc001wwd.4 + 12 2289_2290 c.2190_2191A>ACT c.(2188-2193)caactcfs p.Q730fs FANCM_uc010anf.3_Frame_Shift_Ins_p.Q704fs|FANCM_uc001wwe.4_Frame_Shift_Ins_p.Q266fs|FANCM_uc010ang.3_5'Flank NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA. 730 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 GAATTCATCAACTCTCTCTCTC 0.347 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia SOS2 6655 broad.mit.edu 37 14 50605445 50605446 + Frame_Shift_Ins INS - - T rs139974077 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:50605444_50605445C>CT uc001wxs.4 - 17 2941_2942 c.2843_2844G>AG c.(2842-2844)aagfs p.K948fs SOS2_uc010tql.2_Frame_Shift_Ins_p.K915fs|SOS2_uc010tqm.1_Non-coding_Transcript NM_006939 NP_008870 Q07890 SOS2_HUMAN Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA. 948 Ras-GEF. K -> R (in Ref. 1; AAA35914). apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding p.K948N(1) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1) 39 all_epithelial(31;0.000822)|Breast(41;0.0065) CTTTCCCTTTCTTTTTTAAAAA 0.272 NID2 22795 broad.mit.edu 37 14 52481919 52481919 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:52481918_52481918CG>C uc001wzo.3 - 14 3338 c.3104_3104CG>G c.(3103-3105)cggfs p.R1035fs NID2_uc010tqs.2_Frame_Shift_Del_p.R987fs|NID2_uc010tqt.1_Frame_Shift_Del_p.R1035fs|NID2_uc001wzp.3_Frame_Shift_Del_p.R1035fs NM_007361 NP_031387 Q14112 NID2_HUMAN Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA. 1035 Thyroglobulin type-1 2. basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) CTGGTCATCCCGGGGGGTGCC 0.627 FUT8 2530 broad.mit.edu 37 14 66082954 66082956 + In_Frame_Del DEL GAG GAG - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:66082953_66082955TGAG>T uc001xin.3 + 4 2071_2073 c.344_346TGAG>T c.(343-348)ctgagg>cTgg p.R118del FUT8_uc001xio.3_In_Frame_Del_p.R118del|FUT8_uc010tsp.2_5'UTR|FUT8_uc001xir.4_Non-coding_Transcript|FUT8_uc001xip.3_In_Frame_Del_p.R118del|FUT8_uc001xiq.3_5'UTR|FUT8_uc021ruy.1_5'Flank NM_178155 NP_004471 Q9BYC5 FUT8_HUMAN Homo sapiens fucosyltransferase 8 (alpha (1,6) fucosyltransferase) (FUT8), transcript variant 1, mRNA. 118 L-fucose catabolic process|N-glycan processing|in utero embryonic development|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein glycosylation in Golgi Golgi cisterna membrane|integral to membrane SH3 domain binding|glycoprotein 6-alpha-L-fucosyltransferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) CATGAAATCCTGAGGAGGAGGAT 0.369 FLRT2 23768 broad.mit.edu 37 14 86088949 86088949 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:86088948_86088948AC>A uc021rxf.1 + 0 1090 c.1090_1090AC>A c.(1090-1092)accfs p.T364fs FLRT2_uc001xvr.3_Frame_Shift_Del_p.T364fs|FLRT2_uc010atd.3_Frame_Shift_Del_p.T364fs NM_013231 NP_037363 O43155 FLRT2_HUMAN Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA. 364 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) TCCCACCACGACCCCCGGCCT 0.567 YY1 7528 broad.mit.edu 37 14 100728644 100728645 + Frame_Shift_Ins INS - - A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:100728643_100728644G>GA uc001ygy.1 + 1 1162_1163 c.682_683G>GA c.(682-684)gaafs p.E228fs NM_003403 NP_003394 P25490 TYY1_HUMAN Homo sapiens YY1 transcription factor (YY1), mRNA. 228 cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis Ino80 complex|nuclear matrix|plasma membrane four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1) 11 Melanoma(154;0.152) TGTTTCAGATGAAAAAAAAGAT 0.327 ADSSL1 122622 broad.mit.edu 37 14 105207522 105207523 + Frame_Shift_Ins INS - - C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr14:105207521_105207522G>GC uc001ypd.3 + 7 808_809 c.734_735G>GC c.(733-735)ggcfs p.G245fs ADSSL1_uc001ype.3_Frame_Shift_Ins_p.G288fs|ADSSL1_uc001ypf.3_Non-coding_Transcript NM_152328 NP_689541 Q8N142 PURA1_HUMAN Homo sapiens adenylosuccinate synthase like 1 (ADSSL1), transcript variant 2, mRNA. 245 AMP biosynthetic process|immune system process|purine base metabolic process cytosol GTP binding|adenylosuccinate synthase activity|magnesium ion binding|phosphate binding central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1) 11 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.18) L-Aspartic Acid(DB00128) GCACTCCACGGCCCCCCCAAGA 0.594 HERC2 8924 broad.mit.edu 37 15 28366578 28366578 + Splice_Site DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:28366577_28366577TA>T uc001zbj.3 - 86 13295 c.13189_splice c.e86-1 p.E4397_splice NM_004667 NP_004658 O95714 HERC2_HUMAN Homo sapiens hect domain and RLD 2 (HERC2), mRNA. 4397 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) AGCCGCCTCCTAAAACACATC 0.438 HERC2 8924 broad.mit.edu 37 15 28463820 28463820 + Splice_Site DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:28463819_28463819TA>T uc001zbj.3 - 38 5952 c.5846_splice c.e38-1 p.E1949_splice NM_004667 NP_004658 O95714 HERC2_HUMAN Homo sapiens hect domain and RLD 2 (HERC2), mRNA. 1949 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GTTCGGCTTCTAAAAAAAATA 0.333 RTF1 23168 broad.mit.edu 37 15 41749961 41749963 + In_Frame_Del DEL AGA AGA - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:41749960_41749962GAGA>G uc001zny.3 + 3 560_562 c.548_550GAGA>G c.(547-552)ggagaa>gGaa p.E184del NM_015138 NP_055953 Q92541 RTF1_HUMAN Homo sapiens Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (RTF1), mRNA. 184 Glu-rich. histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent nucleoplasm protein binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1) 18 all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119) GATGGCTATGGAGAAGACCTCAT 0.483 IGDCC4 57722 broad.mit.edu 37 15 65686807 65686807 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:65686806_65686806TG>T uc002aou.1 - 8 1867 c.1657_1657CA>A c.(1657-1659)agcfs p.S553fs IGDCC4_uc002aot.1_Frame_Shift_Del_p.S141fs NM_020962 NP_066013 Q8TDY8 IGDC4_HUMAN Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA. 553 Fibronectin type-III 2. integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 TTGCTCAGGCTGGGGGGCAGG 0.597 MEGF11 84465 broad.mit.edu 37 15 66220800 66220800 + Frame_Shift_Del DEL G G - rs137866207 byFrequency TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:66220799_66220799CG>C uc002apm.2 - 12 1780 c.1639_1639CG>G c.(1639-1641)gtcfs p.V547fs MEGF11_uc002apl.2_Frame_Shift_Del_p.V472fs|MEGF11_uc002apn.1_Frame_Shift_Del_p.V547fs NM_032445 NP_115821 A6BM72 MEG11_HUMAN Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA. 547 basolateral plasma membrane|integral to membrane breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 19 TGGCCTGTGACGGGGTCACAT 0.542 SPESP1 246777 broad.mit.edu 37 15 69238555 69238555 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:69238554_69238554GA>G uc002arn.2 + 1 835 c.681_681GA>G c.(679-681)ttgfs p.L227fs MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Intron|NOX5_uc002arp.2_Intron|NOX5_uc010bid.2_Intron NM_145658 NP_663633 Q6UW49 SPESP_HUMAN Homo sapiens sperm equatorial segment protein 1 (SPESP1), mRNA. 227 multicellular organismal development acrosomal vesicle breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1) 19 ATGACATTTTGAAAAAAATTT 0.393 UACA 55075 broad.mit.edu 37 15 70961076 70961077 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:70961075_70961076A>AT uc002asr.3 - 15 2051_2052 c.1947_1948T>AT c.(1945-1950)aaattafs p.K649fs UACA_uc010uke.2_Frame_Shift_Ins_p.K540fs|UACA_uc002asq.3_Frame_Shift_Ins_p.K636fs|UACA_uc010bin.1_Frame_Shift_Ins_p.K624fs NM_018003 NP_060473 Q9BZF9 UACA_HUMAN Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA. 649 cytoskeleton|extracellular region p.E650D(1) breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 50 ATTTCTACTAATTTTTTTGCTT 0.351 NEIL1 79661 broad.mit.edu 37 15 75644674 75644674 + Frame_Shift_Del DEL C C - rs34322656 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:75644673_75644673TC>T uc002bae.3 + 3 974 c.821_821TC>T c.(820-822)atcfs p.I274fs NEIL1_uc002bad.3_Frame_Shift_Del_p.I188fs NM_024608 NP_078884 Q96FI4 NEIL1_HUMAN Homo sapiens nei endonuclease VIII-like 1 (E. coli) (NEIL1), mRNA. 188 base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress cytoplasm|nucleus DNA-(apurinic or apyrimidinic site) lyase activity|damaged DNA binding|protein C-terminus binding|zinc ion binding p.R274R(1) breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1) 13 AGGCTGAAGATCCCCCCCTTT 0.647 Base excision repair (BER), DNA glycosylases BTBD1 53339 broad.mit.edu 37 15 83725144 83725147 + Frame_Shift_Del DEL AGTA AGTA - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:83725143_83725146GAGTA>G uc002bjn.3 - 1 756_759 c.553_556TACTC>C c.(553-558)actcagfs p.T185fs BTBD1_uc002bjo.3_Frame_Shift_Del_p.T185fs NM_025238 NP_079514 Q9H0C5 BTBD1_HUMAN Homo sapiens BTB (POZ) domain containing 1 (BTBD1), transcript variant 1, mRNA. 185 cytoplasmic mRNA processing body|protein complex protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1) 10 all cancers(203;0.000186) TTACTTACCTGAGTAAGTAACATA 0.338 TM6SF1 53346 broad.mit.edu 37 15 83805312 83805312 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr15:83805311_83805311CT>C uc002bjp.3 + 9 1109 c.1000_1000CT>C c.(1000-1002)cttfs p.L334fs TM6SF1_uc010bmq.3_Frame_Shift_Del_p.L303fs|TM6SF1_uc002bjq.3_3'UTR|TM6SF1_uc010bmr.3_Non-coding_Transcript|TM6SF1_uc002bjr.3_Frame_Shift_Del_p.L186fs NM_023003 NP_075379 Q9BZW5 TM6S1_HUMAN Homo sapiens transmembrane 6 superfamily member 1 (TM6SF1), transcript variant 1, mRNA. 334 integral to membrane endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 AGCAAAAATCCTTTTTTTAGC 0.368 CACNA1H 8912 broad.mit.edu 37 16 1260974 1260974 + Splice_Site DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:1260973_1260973TG>T uc002cks.3 + 21 4471 c.4223_splice c.e21+2 p.R1408_splice CACNA1H_uc002ckt.3_Splice_Site_p.R1408_splice|CACNA1H_uc002cku.3_Splice_Site_p.R114_splice|CACNA1H_uc010brj.3_Splice_Site_p.R114_splice|CACNA1H_uc002ckv.3_Splice_Site_p.R114_splice NM_021098 NP_066921 O95180 CAC1H_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA. 1408 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) GCCTCTGAGGTGGGGGGCTCC 0.697 PPL 5493 broad.mit.edu 37 16 4935689 4935689 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:4935688_4935688GC>G uc002cyd.1 - 21 3058 c.2968_2968GC>C c.(2968-2970)cagfs p.Q990fs NM_002705 NP_002696 O60437 PEPL_HUMAN Homo sapiens periplakin (PPL), mRNA. 990 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 ACGTACTCCTGCCCCCCGTCT 0.667 ZC3H7A 29066 broad.mit.edu 37 16 11873222 11873222 + Splice_Site DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:11873221_11873221TA>T uc002dbk.3 - 3 307 c.109_splice c.e3-1 p.V37_splice ZC3H7A_uc002dbl.3_Splice_Site_p.V37_splice|ZC3H7A_uc002dbm.2_Splice_Site_p.V37_splice NM_014153 NP_054872 Q8IWR0 Z3H7A_HUMAN Homo sapiens zinc finger CCCH-type containing 7A (ZC3H7A), mRNA. 37 nucleus nucleic acid binding|zinc ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2) 25 CAAATATACCTAAAAAAAAGA 0.338 DNAH3 55567 broad.mit.edu 37 16 21008625 21008625 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:21008624_21008624TC>T uc010vbe.2 - 43 6582 c.6582_6582GA>A c.(6580-6582)ggafs p.G2194fs NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 2194 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CATTCCTTCCTCCCCCGGGGG 0.542 ARHGAP17 55114 broad.mit.edu 37 16 24958802 24958802 + Splice_Site DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:24958801_24958801AC>A uc002dnb.3 - 14 1334 c.1241_splice c.e14+1 p.G414_splice ARHGAP17_uc002dna.3_Splice_Site_p.G141_splice|ARHGAP17_uc002dnc.3_Splice_Site_p.G414_splice|ARHGAP17_uc010vcf.2_Splice_Site_p.G235_splice NM_001006634 NP_001006635 Q68EM7 RHG17_HUMAN Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA. 414 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) AAGATGACTTACCCTTCATTT 0.403 NETO2 81831 broad.mit.edu 37 16 47120148 47120149 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:47120147_47120148A>AT uc002eer.2 - 7 1399_1400 c.986_987T>AT c.(985-987)aatfs p.N329fs NETO2_uc002eeq.2_Intron|NETO2_uc010vgf.2_Frame_Shift_Ins_p.N322fs NM_018092 NP_060562 Q8NC67 NETO2_HUMAN Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 2 (NETO2), transcript variant 1, mRNA. 329 LDL-receptor class A. integral to membrane receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 29 all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174) CTTTACAATGATTTTCATCCCA 0.371 HNSCC(25;0.065) CNOT1 23019 broad.mit.edu 37 16 58555110 58555111 + In_Frame_Ins INS - - TAC TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:58555109_58555110G>GTAC uc002env.3 - 47 7322_7323 c.7029_7030C>GTAC c.(7027-7032)gtacac>gtGTACac p.H2344Y CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_In_Frame_Ins_p.H2339Y|CNOT1_uc002ent.3_In_Frame_Ins_p.H282Y|CNOT1_uc010vik.2_In_Frame_Ins_p.H1301Y NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA. 2344 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) GGGGCACAGTGTACAAATTCAT 0.401 LRRC36 55282 broad.mit.edu 37 16 67397608 67397608 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:67397607_67397607TG>T uc002esv.3 + 5 711 c.692_692TG>T c.(691-693)ctgfs p.L231fs LRRC36_uc002esw.3_Non-coding_Transcript|LRRC36_uc010ceh.3_Frame_Shift_Del_p.L110fs|LRRC36_uc002esx.3_Frame_Shift_Del_p.L110fs|LRRC36_uc010vjk.2_Frame_Shift_Del_p.L110fs|LRRC36_uc010vjl.2_5'UTR NM_018296 NP_060766 Q1X8D7 LRC36_HUMAN Homo sapiens leucine rich repeat containing 36 (LRRC36), transcript variant 1, mRNA. 231 endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 24 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161) ACCTTCCCACTGGGGACACAG 0.418 KIAA0182 23199 broad.mit.edu 37 16 85682290 85682291 + Frame_Shift_Ins INS - - C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr16:85682289_85682290A>AC uc002fix.3 + 2 432_433 c.358_359A>AC c.(358-360)accfs p.T120fs KIAA0182_uc002fiw.3_Frame_Shift_Ins_p.T16fs|KIAA0182_uc002fiy.3_Frame_Shift_Ins_p.T47fs NM_014615 NP_055430 Q14687 GSE1_HUMAN Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA. 120 protein binding p.V123fs*2(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 35 CGTGCCCAGCACCCCCCCCGTG 0.688 PAFAH1B1 5048 broad.mit.edu 37 17 2570437 2570437 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:2570436_2570436AT>A uc002fuw.4 + 4 911 c.343_343AT>A c.(343-345)attfs p.I115fs PAFAH1B1_uc010ckb.2_Non-coding_Transcript NM_000430 NP_000421 P43034 LIS1_HUMAN Homo sapiens platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) (PAFAH1B1), mRNA. 115 Interaction with dynein and dynactin. G2/M transition of mitotic cell cycle|acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1) 11 CACTCGAGTCATTTTCCATCC 0.458 ALOX15 246 broad.mit.edu 37 17 4539247 4539247 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:4539246_4539246TG>T uc002fyh.3 - 7 994 c.969_969CA>A c.(967-969)acafs p.T323fs ALOX15_uc010vsd.2_Frame_Shift_Del_p.T284fs|ALOX15_uc010vse.2_Frame_Shift_Del_p.T345fs NM_001140 NP_001131 P16050 LOX15_HUMAN Homo sapiens arachidonate 15-lipoxygenase (ALOX15), mRNA. 323 Lipoxygenase. inflammatory response|leukotriene biosynthetic process nucleus arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5) 20 READ - Rectum adenocarcinoma(115;0.0327) Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744) GTGGGGATCCTGTGCGGGGCA 0.617 ELAC2 60528 broad.mit.edu 37 17 12919107 12919108 + Frame_Shift_Del DEL AC AC - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:12919106_12919107TAC>T uc002gnz.4 - 3 527_528 c.410_411GTA>A c.(409-411)gtafs p.V137fs ELAC2_uc010vvo.2_5'Flank|ELAC2_uc010vvp.2_Frame_Shift_Del_p.V118fs|ELAC2_uc010vvq.2_Frame_Shift_Del_p.V137fs|ELAC2_uc010vvr.2_Frame_Shift_Del_p.V137fs NM_018127 NP_060597 Q9BQ52 RNZ2_HUMAN Homo sapiens elaC homolog 2 (E. coli) (ELAC2), transcript variant 1, mRNA. 137 tRNA processing nucleus endonuclease activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1) 23 GTCCAGAAAGTACACACTTTGG 0.371 KRTAP4-1 85285 broad.mit.edu 37 17 39340921 39340921 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:39340920_39340920TG>T uc002hwe.4 - 0 228 c.187_187CA>A c.(187-189)agcfs p.S63fs KRTAP4-1_uc010cxm.1_Non-coding_Transcript NM_033060 NP_149049 Q9BYQ7 KRA41_HUMAN Homo sapiens keratin associated protein 4-1 (KRTAP4-1), mRNA. 63 18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL]. keratin filament kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) TGGCAGCAGCTGGGGCGACAG 0.647 RNF43 54894 broad.mit.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:56435160_56435160AC>A uc002iwf.3 - 7 3933 c.1977_1977GT>T c.(1975-1977)ggtfs p.G659fs RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs NM_017763 NP_060233 Q68DV7 RNF43_HUMAN Homo sapiens ring finger protein 43 (RNF43), mRNA. 659 Pro-rich. endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding p.G659fs*41(1) NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) GCTCGGAGGGACCCCCCCGCC 0.597 RNF43 54894 broad.mit.edu 37 17 56435355 56435357 + In_Frame_Del DEL AGG AGG - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:56435354_56435356CAGG>C uc002iwf.3 - 7 3737_3739 c.1781_1783CCTG>G c.(1780-1785)cctgat>cGat p.594_595PD>R RNF43_uc010wnv.2_In_Frame_Del_p.553_554PD>R|RNF43_uc002iwh.4_In_Frame_Del_p.594_595PD>R|RNF43_uc002iwg.4_In_Frame_Del_p.594_595PD>R|RNF43_uc010dcw.3_In_Frame_Del_p.467_468PD>R NM_017763 NP_060233 Q68DV7 RNF43_HUMAN Homo sapiens ring finger protein 43 (RNF43), mRNA. 594 Pro-rich. endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) ACTTGCTGATCAGGAGAAGGTGG 0.650 CD300C 10871 broad.mit.edu 37 17 72541038 72541038 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:72541037_72541037TC>T uc002jky.1 - 1 472 c.111_111GA>A c.(109-111)ggafs p.G37fs NM_006678 NP_006669 Q08708 CLM6_HUMAN Homo sapiens CD300c molecule (CD300C), mRNA. 37 Ig-like V-type. cellular defense response integral to plasma membrane transmembrane receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1) 21 CACTCAGGGATCCCCCCACGG 0.542 SLC16A5 9121 broad.mit.edu 37 17 73094188 73094188 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:73094187_73094187TG>T uc002jmr.3 + 3 626 c.254_254TG>T c.(253-255)ctgfs p.L85fs SLC16A5_uc002jmt.3_Frame_Shift_Del_p.L85fs|SLC16A5_uc002jmu.3_Frame_Shift_Del_p.L85fs|SLC16A5_uc010wrt.2_Frame_Shift_Del_p.L125fs NM_004695 NP_004686 O15375 MOT6_HUMAN Homo sapiens solute carrier family 16, member 5 (monocarboxylic acid transporter 6) (SLC16A5), mRNA. 85 organic anion transport integral to plasma membrane|membrane fraction secondary active monocarboxylate transmembrane transporter activity|symporter activity central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 all_lung(278;0.226) LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235) Pyruvic acid(DB00119) ACCGTGATGCTGGGGGGCGTG 0.617 HEXDC 284004 broad.mit.edu 37 17 80400208 80400209 + Frame_Shift_Ins INS - - C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr17:80400207_80400208G>GC uc002kev.4 + 11 1913_1914 c.1497_1498G>GC c.(1495-1500)ctgcccfs p.L499fs HEXDC_uc002kew.3_Frame_Shift_Ins_p.A470fs|HEXDC_uc010wvm.2_Non-coding_Transcript NM_173620 NP_775891 Q8WVB3 HEXDC_HUMAN Homo sapiens hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing (HEXDC), mRNA. 0 carbohydrate metabolic process cytoplasm|nucleus beta-N-acetylhexosaminidase activity|cation binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) CGAGGTGTCTGCCCCCCCGCTG 0.688 CHST9 83539 broad.mit.edu 37 18 24524316 24524317 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr18:24524315_24524316A>AT uc002kwd.3 - 3 446_447 c.217_218T>AT c.(217-219)atcfs p.I73fs CHST9-AS1_uc010xbm.2_Intron|CHST9_uc002kwe.3_Frame_Shift_Ins_p.I73fs|CHST9_uc021uij.1_Intron NM_001243848 NP_001230777 Q7L1S5 CHST9_HUMAN Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 (CHST9), transcript variant 2, mRNA. 73 carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|extracellular region|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3) 28 all_lung(6;0.0145)|Ovarian(20;0.124) ATGTTCCTGGATTTTTTCTGTA 0.302 FHOD3 80206 broad.mit.edu 37 18 34205516 34205516 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr18:34205515_34205515AC>A uc021uiv.1 + 9 1096 c.999_999AC>A c.(997-999)ccafs p.P333fs FHOD3_uc002kzr.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzs.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzt.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzu.1_Frame_Shift_Del_p.P158fs|FHOD3_uc010dmz.1_Frame_Shift_Del_p.P86fs NM_025135 NP_079411 Q2V2M9 FHOD3_HUMAN Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA. 333 GBD/FH3. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CCACGGAGCCACCCCCCAGTG 0.677 ZBTB7C 201501 broad.mit.edu 37 18 45566519 45566520 + Frame_Shift_Ins INS - - C rs113275715 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr18:45566518_45566519G>GC uc010dnv.3 - 2 1462_1463 c.1026_1027C>GC c.(1024-1029)gggcctfs p.G342fs ZBTB7C_uc002ldb.3_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010dnu.3_Frame_Shift_Ins_p.G329fs|ZBTB7C_uc010dnw.3_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010dnx.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010dny.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010dnz.1_Frame_Shift_Ins_p.G342fs|ZBTB7C_uc010doi.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010doj.1_Frame_Shift_Ins_p.G329fs|ZBTB7C_uc010dok.1_Frame_Shift_Ins_p.G369fs|ZBTB7C_uc010dol.1_Frame_Shift_Ins_p.G329fs|ZBTB7C_uc010doa.1_Frame_Shift_Ins_p.G342fs|ZBTB7C_uc010dob.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010doc.1_Frame_Shift_Ins_p.G329fs|ZBTB7C_uc010dod.1_Frame_Shift_Ins_p.G342fs|ZBTB7C_uc010doe.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010dof.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010dog.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010doh.1_Frame_Shift_Ins_p.G329fs|ZBTB7C_uc010dom.1_Frame_Shift_Ins_p.G329fs|ZBTB7C_uc010don.1_Frame_Shift_Ins_p.G328fs|ZBTB7C_uc010dop.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010doq.1_Frame_Shift_Ins_p.G329fs|ZBTB7C_uc010dor.1_Frame_Shift_Ins_p.G342fs|ZBTB7C_uc010dos.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010dot.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010doo.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010dou.1_Frame_Shift_Ins_p.G329fs NM_001039360 NP_001034449 A1YPR0 ZBT7C_HUMAN Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA. 320 intracellular nucleic acid binding|zinc ion binding p.L343L(1) endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 GGTCCCAGAGGCCCCCCCGGCA 0.624 ALPK2 115701 broad.mit.edu 37 18 56278998 56278998 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr18:56278997_56278997CG>C uc002lhj.4 - 1 247 c.33_33CG>G c.(31-33)ccgfs p.P11fs NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN Homo sapiens alpha-kinase 2 (ALPK2), mRNA. 11 Ig-like 1. ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 AAAAACACAGCGGGGGCCTCT 0.453 CDH19 28513 broad.mit.edu 37 18 64172527 64172527 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr18:64172526_64172526CA>C uc002lkc.1 - 11 1980 c.1842_1842TG>G c.(1840-1842)ttgfs p.L614fs CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_Frame_Shift_Del_p.*491fs NM_021153 NP_066976 Q9H159 CAD19_HUMAN Homo sapiens cadherin 19, type 2 (CDH19), mRNA. 614 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) AACCCAAAGTCAAAAAAATAA 0.323 DOT1L 84444 broad.mit.edu 37 19 2191141 2191141 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:2191140_2191140TC>T uc002lvb.4 + 4 430 c.394_394TC>T c.(394-396)tccfs p.S132fs NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA. 132 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 Hepatocellular(1079;0.137) 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) CGAGCCCTTCTCCCCCGAGGT 0.602 ZNF426 79088 broad.mit.edu 37 19 9639888 9639888 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:9639887_9639887CT>C uc002mlq.3 - 7 1098 c.834_834AG>G c.(832-834)aagfs p.K278fs ZNF426_uc010dws.3_Frame_Shift_Del_p.K240fs NM_024106 NP_077011 Q9BUY5 ZN426_HUMAN Homo sapiens zinc finger protein 426 (ZNF426), mRNA. 278 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 20 ATTTGTAGGGCTTTTTTGCAT 0.423 FBXL12 54850 broad.mit.edu 37 19 9922291 9922291 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:9922290_9922290TG>T uc002mme.3 - 2 505 c.263_263CA>A c.(262-264)cagfs p.Q88fs FBXL12_uc002mmd.3_Frame_Shift_Del_p.Q35fs|FBXL12_uc002mmf.3_Frame_Shift_Del_p.Q35fs|FBXL12_uc002mmg.3_Frame_Shift_Del_p.Q35fs NM_017703 NP_060173 Q9NXK8 FXL12_HUMAN Homo sapiens F-box and leucine-rich repeat protein 12 (FBXL12), mRNA. 88 protein binding p.Q88fs*7(1) endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2) 10 AGGGGACAACTGGGGGGCCTG 0.632 NCAN 1463 broad.mit.edu 37 19 19338309 19338310 + Frame_Shift_Ins INS - - C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:19338308_19338309T>TC uc002nlz.3 + 7 1978_1979 c.1879_1880T>TC c.(1879-1881)tccfs p.S627fs NCAN_uc010ecc.1_Frame_Shift_Ins_p.S191fs NM_004386 NP_004377 O14594 NCAN_HUMAN Homo sapiens neurocan (NCAN), mRNA. 627 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) TGTGGCCACCTCCCCAGATCTC 0.629 PSMC4 5704 broad.mit.edu 37 19 40480654 40480655 + Frame_Shift_Ins INS - - C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:40480653_40480654T>TC uc002omq.3 + 5 628_629 c.591_592T>TC c.(589-594)gatcccfs p.D197fs PSMC4_uc002omr.3_Frame_Shift_Ins_p.D166fs NM_006503 NP_006494 P43686 PRS6B_HUMAN Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 4 (PSMC4), transcript variant 1, mRNA. 197 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TCGGCATCGATCCCCCCCGAGG 0.614 SHKBP1 92799 broad.mit.edu 37 19 41083179 41083181 + In_Frame_Del DEL CTT CTT - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:41083178_41083180CCTT>C uc002oob.3 + 1 177_179 c.128_130CCTT>C c.(127-132)tccttc>tCtc p.F45del SHKBP1_uc002ooc.3_In_Frame_Del_p.F45del|SHKBP1_uc010xvl.1_5'UTR|SHKBP1_uc002ooe.3_5'UTR|SHKBP1_uc010xvm.2_5'Flank|SHKBP1_uc010xvn.2_5'Flank NM_138392 NP_612401 Q8TBC3 SHKB1_HUMAN Homo sapiens SH3KBP1 binding protein 1 (SHKBP1), mRNA. 45 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1) 29 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) ATCCCAGACTCCTTCTTCTCCAG 0.611 BAX 581 broad.mit.edu 37 19 49458971 49458972 + Frame_Shift_Ins INS - - G rs141306106 byFrequency TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:49458970_49458971T>TG uc002plk.3 + 2 182_183 c.113_114T>TG c.(112-114)atgfs p.M38fs BAX_uc002plf.1_Frame_Shift_Ins_p.M38fs|BAX_uc002plg.1_Frame_Shift_Ins_p.M1fs|BAX_uc002plh.1_Intron|BAX_uc010xzx.2_Non-coding_Transcript|BAX_uc002plj.3_Frame_Shift_Ins_p.M38fs|BAX_uc002pll.3_Intron|BAX_uc002plm.3_Intron NM_138761 NP_620116 Q07812 BAX_HUMAN Homo sapiens BCL2-associated X protein (BAX), transcript variant alpha, mRNA. 38 B cell apoptosis|DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|cleavage of lamin|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity p.E41fs*19(1)|p.R37*(1) central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4) 17 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279) GCAGGGCGAATGGGGGGGGAGG 0.594 ZNF324 25799 broad.mit.edu 37 19 58980596 58980596 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr19:58980595_58980595TG>T uc002qsw.2 + 1 188 c.43_43TG>T c.(43-45)tggfs p.W15fs NM_014347 NP_055162 O75467 Z324A_HUMAN Homo sapiens zinc finger protein 324 (ZNF324), mRNA. 15 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2) 16 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) CCAGGAGGAGTGGGGGCTCCT 0.572 C20orf194 25943 broad.mit.edu 37 20 3321163 3321164 + Frame_Shift_Ins INS - - AA TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:3321162_3321163C>CAA uc002wii.2 - 9 1020_1021 c.969_970G>TTG c.(967-972)tttgccfs p.F323fs C20orf194_uc002wij.3_Frame_Shift_Ins_p.F62fs|C20orf194_uc002wik.2_5'UTR|C20orf194_uc010gay.1_Non-coding_Transcript NM_001009984 NP_001009984 Q5TEA3 CT194_HUMAN Homo sapiens chromosome 20 open reading frame 194 (C20orf194), mRNA. 323 NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 39 ATGTGCTTGGCAAAGCTCCCGC 0.505 OTOR 56914 broad.mit.edu 37 20 16729577 16729578 + Frame_Shift_Ins INS - - A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:16729576_16729577T>TA uc002wpj.3 + 1 224_225 c.180_181T>TA c.(178-183)gttaaafs p.V60fs NM_020157 NP_064542 Q9NRC9 OTOR_HUMAN Homo sapiens otoraplin (OTOR), mRNA. 60 SH3. sensory perception of sound extracellular region breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 10 TCATTAACGTTAAAAAAGGGCA 0.356 RALGAPB 57148 broad.mit.edu 37 20 37146233 37146233 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr20:37146232_37146232AC>A uc002xiw.3 + 7 1392 c.1135_1135AC>A c.(1135-1137)accfs p.T379fs RALGAPB_uc010zvz.1_Frame_Shift_Del_p.T379fs|RALGAPB_uc002xix.3_Frame_Shift_Del_p.T379fs|RALGAPB_uc002xiy.1_Frame_Shift_Del_p.T379fs|RALGAPB_uc002xiz.3_Frame_Shift_Del_p.T157fs|RALGAPB_uc002xja.1_Frame_Shift_Del_p.T106fs NM_020336 NP_065069 Q86X10 RLGPB_HUMAN Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA. 379 activation of Ral GTPase activity intracellular Ral GTPase activator activity|protein heterodimerization activity p.H382fs*2(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 TGTCAGTACCACCCCCCCACA 0.443 MRAP 56246 broad.mit.edu 37 21 33684272 33684272 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr21:33684271_33684271TC>T uc002ypj.3 + 4 670 c.483_483TC>T c.(481-483)cctfs p.P161fs MRAP_uc002ypk.3_Intron|URB1_uc002ypn.2_3'UTR|MRAP_uc011ado.2_Frame_Shift_Del_p.P102fs|MRAP_uc002ypl.3_Frame_Shift_Del_p.P161fs NM_178817 NP_848932 Q8TCY5 MRAP_HUMAN Homo sapiens melanocortin 2 receptor accessory protein (MRAP), transcript variant 1, mRNA. 161 positive regulation of cAMP biosynthetic process|protein localization at cell surface endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding p.E160E(1) endometrium(1)|large_intestine(2)|lung(3) 6 CCAGCGAGCCTCCCCCTGGAG 0.587 RCAN1 1827 broad.mit.edu 37 21 35890429 35890430 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr21:35890428_35890429A>AT uc002yue.3 - 3 784_785 c.712_713T>AT c.(712-714)attfs p.I238fs RCAN1_uc002yuc.3_Frame_Shift_Ins_p.I157fs|RCAN1_uc002yud.3_Frame_Shift_Ins_p.I103fs|RCAN1_uc002yub.3_Frame_Shift_Ins_p.I183fs NM_004414 NP_004405 P53805 RCAN1_HUMAN Homo sapiens regulator of calcineurin 1 (RCAN1), transcript variant 1, mRNA. 238 blood circulation|calcium-mediated signaling|central nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|kidney(1)|large_intestine(1)|lung(2) 5 GGTCTGGATAATTTTTGGCTTA 0.510 TTC3 7267 broad.mit.edu 37 21 38555143 38555144 + Frame_Shift_Del DEL AA AA - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr21:38555142_38555143GAA>G uc002yvz.3 + 35 4789_4790 c.4684_4685GAA>G c.(4684-4686)gaafs p.E1562fs TTC3_uc002ywa.3_Frame_Shift_Del_p.E1562fs|TTC3_uc002ywb.3_Frame_Shift_Del_p.E1562fs|TTC3_uc010gnf.3_Frame_Shift_Del_p.E1327fs|TTC3_uc002ywc.3_Frame_Shift_Del_p.E1252fs|TTC3_uc002ywd.1_Frame_Shift_Del_p.E626fs NM_001001894 NP_003307 P53804 TTC3_HUMAN Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA. 1562 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) ATGGCAACAGGAAAAAAAAGAA 0.287 RIPK4 54101 broad.mit.edu 37 21 43165935 43165936 + Frame_Shift_Ins INS - - G rs144324321 TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr21:43165934_43165935C>CG uc002yzn.1 - 5 968_969 c.920_921G>CG c.(919-921)ccgfs p.P307fs NM_020639 NP_065690 Q96T11 Q96T11_HUMAN Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA. 307 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 TCCTGGGCTCCGGGGGGCTTTT 0.535 MCM3AP 8888 broad.mit.edu 37 21 47704673 47704673 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr21:47704672_47704672TA>T uc002zir.1 - 0 565 c.529_529TA>A c.(529-531)acafs p.T177fs YBEY_uc002zit.1_5'Flank|YBEY_uc002ziu.1_5'Flank|YBEY_uc010gqh.3_5'Flank|YBEY_uc002ziv.3_5'Flank|YBEY_uc002ziw.3_5'Flank|YBEY_uc002zix.3_5'Flank|YBEY_uc002ziy.3_5'Flank NM_003906 NP_003897 O60318 MCM3A_HUMAN Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA. 177 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) TGGGAAAATGTAAAAAACCCA 0.433 SERPIND1 3053 broad.mit.edu 37 22 21134078 21134079 + Frame_Shift_Ins INS - - CCTGC TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr22:21134077_21134078T>TCCTGC uc002ztc.2 + 0 564_565 c.561_562T>TCCTGC c.(559-564)tctactfs p.S187fs PI4KA_uc002zsz.4_Intron|SERPIND1_uc002ztb.1_Frame_Shift_Ins_p.S159fs NM_000185 NP_000176 P05546 HEP2_HUMAN Homo sapiens serpin peptidase inhibitor, clade D (heparin cofactor), member 1 (SERPIND1), mRNA. 159 blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) Ardeparin(DB00407) TTGGCATTTCTACTGCGATGGG 0.441 CARD10 29775 broad.mit.edu 37 22 37893150 37893150 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr22:37893149_37893149TG>T uc003asx.1 - 11 1841 c.1824_1824CA>A c.(1822-1824)ccafs p.P608fs CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asv.1_5'Flank|CARD10_uc011ank.1_5'Flank|CARD10_uc003asw.1_Frame_Shift_Del_p.P322fs|CARD10_uc003asy.1_Frame_Shift_Del_p.P608fs NM_014550 NP_055365 Q9BWT7 CAR10_HUMAN Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA. 608 activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis CBM complex receptor signaling complex scaffold activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 17 Melanoma(58;0.0574) CTGGGCCCCCTGGGGGGCTCC 0.587 ZBED4 9889 broad.mit.edu 37 22 50277679 50277680 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr22:50277678_50277679A>AT uc003bix.2 + 1 838_839 c.368_369A>AT c.(367-369)catfs p.H123fs ZBED4_uc021wrx.1_Frame_Shift_Ins_p.H123fs NM_014838 NP_055653 O75132 ZBED4_HUMAN Homo sapiens zinc finger, BED-type containing 4 (ZBED4), mRNA. 123 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) GCCTGGAAGCATTTTTTTATCT 0.510 MOV10L1 54456 broad.mit.edu 37 22 50559005 50559005 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chr22:50559004_50559004CA>C uc003bjj.3 + 9 1611 c.1528_1528CA>C c.(1528-1530)caafs p.Q510fs MOV10L1_uc003bjk.4_Frame_Shift_Del_p.Q510fs|MOV10L1_uc011arp.2_Frame_Shift_Del_p.Q490fs|MOV10L1_uc011arq.1_Frame_Shift_Del_p.Q271fs|MOV10L1_uc010hao.1_Intron NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA. 510 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) ATGTGTGGAACAAAAAATTGA 0.393 PPP2R3B 28227 broad.mit.edu 37 X 302052 302052 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:302051_302051GT>G uc004cpg.3 - 8 1430 c.1166_1166AC>C c.(1165-1167)acafs p.T389fs PPP2R3B_uc004cpf.3_5'UTR NM_013239 NP_037371 Q9Y5P8 P2R3B_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit B'', beta (PPP2R3B), mRNA. 389 EF-hand. cell cycle arrest|protein dephosphorylation nucleus|protein phosphatase type 2A complex calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity endometrium(5)|lung(5)|skin(1) 11 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CCTGGTCGGTGTTTTTTTGTC 0.562 GPR64 10149 broad.mit.edu 37 X 19046359 19046360 + Splice_Site INS - - A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:19046358_19046359T>TA uc004cyx.3 - 10 601 c.359_splice c.e10-1 p.A120_splice GPR64_uc004cze.3_Splice_Site_p.A90_splice|GPR64_uc004cza.3_Splice_Site_p.A98_splice|GPR64_uc004czf.3_Splice_Site_p.A82_splice|GPR64_uc004cyy.3_Splice_Site_p.A117_splice|GPR64_uc004czc.3_Splice_Site_p.A104_splice|GPR64_uc004cyz.3_Splice_Site_p.A106_splice|GPR64_uc004czb.3_Splice_Site_p.A120_splice|GPR64_uc004czd.3_Splice_Site_p.A96_splice|GPR64_uc004cyw.3_Splice_Site_p.A104_splice|GPR64_uc010nfj.3_Splice_Site_p.A90_splice NM_001079858 NP_001073327 Q8IZP9 GPR64_HUMAN Homo sapiens G protein-coupled receptor 64 (GPR64), transcript variant 1, mRNA. 120 neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1) 42 Hepatocellular(33;0.183) TAAAAAATGCTAAAAATAAATT 0.262 CXorf22 170063 broad.mit.edu 37 X 35993957 35993959 + In_Frame_Del DEL TTG TTG - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:35993956_35993958ATTG>A uc004ddj.3 + 14 2705_2707 c.2639_2641ATTG>A c.(2638-2643)aattgt>aAgt p.880_881NC>K CXorf22_uc010ngv.3_Non-coding_Transcript NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA. 880 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 AATCGTCAGAATTGTTGTGCTCA 0.384 HS6ST2 90161 broad.mit.edu 37 X 131762582 131762583 + Frame_Shift_Ins INS - - A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:131762581_131762582C>CA uc011mvd.1 - 5 2023_2024 c.1607_1608G>TG c.(1606-1608)ttgfs p.L536fs HS6ST2_uc011mvb.1_Frame_Shift_Ins_p.L390fs|HS6ST2_uc011mvc.1_Frame_Shift_Ins_p.L350fs|HS6ST2_uc011mve.1_Frame_Shift_Ins_p.L496fs|HS6ST2_uc011mva.1_Frame_Shift_Ins_p.L222fs NM_001077188 NP_001070656 Q96MM7 H6ST2_HUMAN Homo sapiens heparan sulfate 6-O-sulfotransferase 2 (HS6ST2), transcript variant L, mRNA. 496 integral to membrane sulfotransferase activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2) 9 Acute lymphoblastic leukemia(192;0.000127) GATACCTCTGCAAAAAAAGGTC 0.450 AFF2 2334 broad.mit.edu 37 X 148039963 148039963 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:148039962_148039962AC>A uc004fcp.3 + 11 3143 c.2664_2664AC>A c.(2662-2664)ccafs p.P888fs AFF2_uc004fcq.3_Frame_Shift_Del_p.P878fs|AFF2_uc004fcr.3_Frame_Shift_Del_p.P849fs|AFF2_uc011mxb.2_Frame_Shift_Del_p.P853fs|AFF2_uc004fcs.3_Frame_Shift_Del_p.P855fs|AFF2_uc011mxc.2_Frame_Shift_Del_p.P529fs NM_002025 NP_002016 P51816 AFF2_HUMAN Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA. 888 RNA splicing|brain development|mRNA processing|regulation of RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) CACCAGCCCCACCCCACAAGC 0.512 MAGEA8 4107 broad.mit.edu 37 X 149013702 149013702 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:149013701_149013701GC>G uc022cgq.1 + 0 655 c.655_655GC>G c.(655-657)gccfs p.A219fs MAGEA8_uc022cgo.1_Frame_Shift_Del_p.A219fs|MAGEA8_uc004fdw.2_Frame_Shift_Del_p.A219fs|MAGEA8_uc022cgp.1_Frame_Shift_Del_p.A219fs NM_005364 NP_005355 P43361 MAGA8_HUMAN Homo sapiens melanoma antigen family A, 8 (MAGEA8), transcript variant 3, mRNA. 219 MAGE. p.R218H(1) NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(192;6.56e-05) GGGCAGCCGCGCCCCGGAGGA 0.577 MAGEA8 4107 broad.mit.edu 37 X 149013888 149013889 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:149013887_149013888C>CT uc022cgq.1 + 0 841_842 c.841_842C>CT c.(841-843)cttfs p.L281fs MAGEA8_uc022cgo.1_Frame_Shift_Ins_p.L281fs|MAGEA8_uc004fdw.2_Frame_Shift_Ins_p.L281fs|MAGEA8_uc022cgp.1_Frame_Shift_Ins_p.L281fs NM_005364 NP_005355 P43361 MAGA8_HUMAN Homo sapiens melanoma antigen family A, 8 (MAGEA8), transcript variant 3, mRNA. 281 MAGE. NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(192;6.56e-05) TCCAAGGGCCCTTGCTGAAACC 0.579 PRRG3 79057 broad.mit.edu 37 X 150869297 150869298 + Frame_Shift_Ins INS - - G rs139807152 byFrequency TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:150869296_150869297C>CG uc022cgt.1 + 3 536_537 c.487_488C>CG c.(487-489)cggfs p.R163fs PRRG3_uc004few.2_Frame_Shift_Ins_p.R163fs NM_024082 NP_076987 Q9BZD7 TMG3_HUMAN Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA. 163 extracellular region|integral to membrane calcium ion binding p.R163P(2) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3) 24 Acute lymphoblastic leukemia(192;6.56e-05) GGGGCCCAGTCGGGGGGGCAGG 0.673 CNGA2 1260 broad.mit.edu 37 X 150912002 150912002 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:150912001_150912001AC>A uc004fey.1 + 6 1250 c.1026_1026AC>A c.(1024-1026)ccafs p.P342fs NM_005140 NP_005131 Q16280 CNGA2_HUMAN Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA. 342 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) GGGAGACACCACCCCCTGTAA 0.493 GABRQ 55879 broad.mit.edu 37 X 151821591 151821591 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:151821590_151821590GC>G uc004ffp.1 + 8 1765 c.1745_1745GC>G c.(1744-1746)tgcfs p.C582fs NM_018558 NP_061028 Q9UN88 GBRT_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA. 582 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) GAGGATAGTTGCCCCCCAAGC 0.517 F8 2157 broad.mit.edu 37 X 154158195 154158195 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc g.chrX:154158194_154158194CT>C uc004fmt.3 - 13 4042 c.3871_3871AG>G c.(3871-3873)gggfs p.G1291fs NM_000132 NP_000123 P00451 FA8_HUMAN Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA. 1291 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TCTTCCTCCCCTTTTTTTGAG 0.378