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 ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut KLHL21 9903 broad.mit.edu 37 1 6655584 6655584 + Silent SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr1:6655584C>A uc001aoa.2 - 3 1513 c.1461G>T c.(1459-1461)CCG>CCT p.P487P KLHL21_uc001anz.1_Silent_p.P487P|KLHL21_uc009vme.2_Silent_p.P120P NM_014851 NP_055666 Q9UJP4 KLH21_HUMAN kelch-like 21 487 Kelch 5. anaphase|cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule central_nervous_system(1) 1 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644) CGTTCCTCGTCGGGTTGTACA 0.567 NA 11 33 2.32078e-09 3.56353e-09 0.003163 1 0 SLC45A1 50651 broad.mit.edu 37 1 8390292 8390292 + Missense_Mutation SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr1:8390292G>A uc001apb.2 + 4 739 c.739G>A c.(739-741)GTG>ATG p.V247M SLC45A1_uc001apc.2_Translation_Start_Site NM_001080397 NP_001073866 Q9Y2W3 S45A1_HUMAN DNB5 247 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) CTTTGGATACGTGGTCGGCGG 0.607 NA 5 75 0 0 0.000602 0 0 LOC440563 440563 broad.mit.edu 37 1 13183710 13183710 + Missense_Mutation SNP C C T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr1:13183710C>T uc010obg.1 - 1 258 c.163G>A c.(163-165)GTT>ATT p.V55I NM_001136561 NP_001130033 B2RXH8 B2RXH8_HUMAN heterogeneous nuclear ribonucleoprotein C-like 55 ribonucleoprotein complex nucleic acid binding|nucleotide binding 0 TCATATTGAACGAAGGCAAAG 0.473 NA 8 50 0 0 0.000673 0 0 SH2D5 400745 broad.mit.edu 37 1 21050589 21050589 + Silent SNP C C T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr1:21050589C>T uc001bdt.1 - 6 1159 c.534G>A c.(532-534)TCG>TCA p.S178S SH2D5_uc009vpy.1_Silent_p.S262S|SH2D5_uc001bdu.1_RNA NM_001103160 NP_001096630 Q6ZV89 SH2D5_HUMAN SH2 domain containing 5 isoform 2 178 0 Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CCTCCCGAGCCGACAGCTGCA 0.667 NA 6 28 0 0 0.001984 0 0 PHACTR4 65979 broad.mit.edu 37 1 28818172 28818172 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr1:28818172G>T uc001bpw.2 + 12 2171 c.1889G>T c.(1888-1890)AGG>ATG p.R630M PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Missense_Mutation_p.R614M|PHACTR4_uc001bpy.2_Missense_Mutation_p.R640M|PHACTR4_uc001bpz.2_RNA NM_001048183 NP_001041648 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 isoform 1 630 RPEL 3. actin binding|protein phosphatase inhibitor activity 0 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) CTCAGTCAAAGGCCAACTGTC 0.418 NA 35 82 1.836e-18 3.24884e-18 0.003755 1 0 Unknown 0 broad.mit.edu 37 1 33778171 33778171 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr1:33778171G>T uc001bxd.1 - 3 128 c.128C>A c.(127-129)CCC>CAC p.P43H NM_001080438 NP_001073907 RecName: Full=Alpha 1,3-galactosyltransferase 2; Short=A3galt2; EC=2.4.1.87; AltName: Full=Isoglobotriaosylceramide synthase; AltName: Full=iGb3 synthase; Short=iGb3S; Flags: Precursor; NA GACGCCCATGGGGATGAGGGC 0.627 NA 5 77 8.12818e-05 0.000105711 0.001984 1 0 MACF1 23499 broad.mit.edu 37 1 39852909 39852909 + Nonsense_Mutation SNP C C T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr1:39852909C>T uc010oiu.1 + 22 9846 c.9715C>T c.(9715-9717)CAG>TAG p.Q3239* MACF1_uc010ois.1_Nonsense_Mutation_p.Q2737*|MACF1_uc001cda.1_Nonsense_Mutation_p.Q2624*|MACF1_uc001cdc.1_Nonsense_Mutation_p.Q1803* NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 4804 Spectrin 4. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CCAGCAGTTCCAGCAAATGTT 0.443 NA 33 242 0 0 0.003755 0 0 ASB17 127247 broad.mit.edu 37 1 76387904 76387904 + Missense_Mutation SNP A A G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr1:76387904A>G uc001dhe.1 - 2 682 c.542T>C c.(541-543)ATT>ACT p.I181T ASB17_uc001dhf.1_RNA NM_080868 NP_543144 Q8WXJ9 ASB17_HUMAN ankyrin repeat and SOCS box-containing 17 181 intracellular signal transduction ovary(1) 1 TGTTAAGACAATGTTGATAGG 0.358 NA 15 48 0 0 0.00245 0 0 LPHN2 23266 broad.mit.edu 37 1 82456564 82456564 + Missense_Mutation SNP A A T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr1:82456564A>T uc001dit.3 + 21 4128 c.3947A>T c.(3946-3948)TAT>TTT p.Y1316F LPHN2_uc001dis.2_Missense_Mutation_p.Y296F|LPHN2_uc001diu.2_Missense_Mutation_p.Y1316F|LPHN2_uc001div.2_3'UTR|LPHN2_uc009wcd.2_3'UTR|LPHN2_uc001diw.2_Missense_Mutation_p.Y943F NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 1372 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) GACTCTCTTTATACAAGCATG 0.512 NA 7 91 0 0 0.001984 0 0 ZNF644 84146 broad.mit.edu 37 1 91403192 91403192 + Missense_Mutation SNP T T A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr1:91403192T>A uc001dnw.2 - 4 3680 c.3538A>T c.(3538-3540)ATG>TTG p.M1180L ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron NM_201269 NP_958357 Q9H582 ZN644_HUMAN zinc finger protein 644 isoform 1 1180 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) TCTTCTCCCATCCTTTTATTT 0.353 NA 19 95 0 0 0.007413 0 0 SASS6 163786 broad.mit.edu 37 1 100572478 100572478 + Silent SNP A A G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr1:100572478A>G uc001dsu.2 - 12 1539 c.1398T>C c.(1396-1398)AAT>AAC p.N466N SASS6_uc009wdz.2_Silent_p.N299N NM_194292 NP_919268 Q6UVJ0 SAS6_HUMAN spindle assembly abnormal protein 6 466 Potential. centriole replication centriole upper_aerodigestive_tract(1)|ovary(1) 2 all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197) ACTTTTCATTATTTTTTAGAA 0.204 NA 5 26 0 0 0.001168 0 0 ADORA3 140 broad.mit.edu 37 1 112028429 112028429 + Silent SNP C C T rs138501072 TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr1:112028429C>T uc001ebf.2 - 5 1673 c.906G>A c.(904-906)ACG>ACA p.T302T ADORA3_uc001ebg.3_Silent_p.T221T NM_020683 NP_065734 P33765 AA3R_HUMAN adenosine A3 receptor isoform 1 Error:Variant_position_missing_in_P33765_after_alignment activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction integral to plasma membrane adenosine receptor activity, G-protein coupled ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156) all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134) Adenosine(DB00640)|Aminophylline(DB01223) TTCCCAAACCCGTGATCAGTA 0.448 NA 13 57 0 0 0.004007 0 0 FAM19A3 284467 broad.mit.edu 37 1 113269262 113269262 + Nonstop_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr1:113269262G>T uc001ecv.2 + 5 471 c.402G>T c.(400-402)TAG>TAT p.*134Y FAM19A3_uc001ecu.2_Missense_Mutation_p.S157I|FAM19A3_uc010owk.1_RNA|FAM19A3_uc010owl.1_RNA NM_182759 NP_877436 Q7Z5A8 F19A3_HUMAN family with sequence similarity 19 (chemokine 134 extracellular region 0 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-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) TCACACGATAGCTCTTGGGGG 0.502 NA 15 43 6.31663e-08 9.25143e-08 0.003163 1 0 ZNF697 90874 broad.mit.edu 37 1 120166700 120166700 + Missense_Mutation SNP C C G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr1:120166700C>G uc001ehy.1 - 3 380 c.266G>C c.(265-267)GGG>GCG p.G89A NM_001080470 NP_001073939 Q5TEC3 ZN697_HUMAN zinc finger protein 697 89 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266) Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577) ATCCTCTTCCCCACGGACAGA 0.547 NA 4 21 0 0 0.000602 0 0 THEM5 284486 broad.mit.edu 37 1 151820280 151820280 + Nonsense_Mutation SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr1:151820280G>A uc009wnd.2 - 5 766 c.634C>T c.(634-636)CAG>TAG p.Q212* NM_182578 NP_872384 Q8N1Q8 THEM5_HUMAN thioesterase superfamily member 5 212 hydrolase activity ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TAAAGCTTCTGGTCCTCAATC 0.567 NA 27 59 0 0 0.00361 0 0 HRNR 388697 broad.mit.edu 37 1 152188290 152188290 + Missense_Mutation SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr1:152188290G>A uc001ezt.1 - 3 5891 c.5815C>T c.(5815-5817)CAT>TAT p.H1939Y NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 1939 21. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCAGACCCATGTTGGCCGTGG 0.587 NA 8 610 0 0 0.00308 0 0 FLG 2312 broad.mit.edu 37 1 152279834 152279834 + Missense_Mutation SNP A A T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr1:152279834A>T uc001ezu.1 - 3 7564 c.7528T>A c.(7528-7530)TCC>ACC p.S2510T NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2510 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) GCACTTCTGGATCCTGAGTGC 0.557 NA Ichthyosis 15 674 0 0 0.003163 0 0 UBE2Q1 55585 broad.mit.edu 37 1 154530853 154530853 + Silent SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr1:154530853G>A uc001fff.1 - 1 268 c.177C>T c.(175-177)TTC>TTT p.F59F NM_017582 NP_060052 Q7Z7E8 UB2Q1_HUMAN ubiquitin-conjugating enzyme E2Q 59 ATP binding|protein binding|ubiquitin-protein ligase activity 0 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) TGGCAATGCGGAAGCGCTCGT 0.423 NA 3 6 0 0 0.004672 0 0 CLK2 1196 broad.mit.edu 37 1 155237843 155237843 + Missense_Mutation SNP T T C TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr1:155237843T>C uc001fjy.2 - 6 919 c.629A>G c.(628-630)AAC>AGC p.N210S RAG1AP1_uc010pey.1_Intron|CLK2_uc001fjw.2_Missense_Mutation_p.N209S|CLK2_uc001fjx.2_5'UTR|CLK2_uc009wqm.2_Missense_Mutation_p.N210S NM_003993 NP_003984 P49760 CLK2_HUMAN CDC-like kinase 2 210 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 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) CTCTAGCACGTTGATCTCAAG 0.498 NA Other_conserved_DNA_damage_response_genes 85 125 0 0 0.00361 0 0 CD1D 912 broad.mit.edu 37 1 158152851 158152851 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr1:158152851G>T uc001frr.2 + 5 1290 c.791G>T c.(790-792)CGA>CTA p.R264L CD1D_uc009wss.2_Intron NM_001766 NP_001757 P15813 CD1D_HUMAN CD1D antigen precursor 264 Ig-like.|Extracellular (Potential). antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding ovary(1) 1 all_hematologic(112;0.0378) TGGTATCTCCGAGCAACCCTG 0.617 NA 49 95 4.86159e-25 9.29365e-25 0.00361 1 0 OR6K6 128371 broad.mit.edu 37 1 158725166 158725166 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr1:158725166G>T uc001fsw.1 + 1 561 c.561G>T c.(559-561)GAG>GAT p.E187D NM_001005184 NP_001005184 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, 187 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_hematologic(112;0.0378) TGCTTCCTGAGATTGCATGGA 0.483 NA 51 96 8.00217e-19 1.4266e-18 0.00361 1 0 IGSF8 93185 broad.mit.edu 37 1 160063849 160063849 + Silent SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr1:160063849G>T uc001fva.2 - 3 600 c.555C>A c.(553-555)GGC>GGA p.G185G IGSF8_uc001fuz.2_Silent_p.G185G|IGSF8_uc009wtf.2_Silent_p.G185G NM_052868 NP_443100 Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 185 Extracellular (Potential).|Ig-like C2-type 2. cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding 0 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) TCGCCAGGCAGCCCAGTGCCA 0.672 NA 5 75 0.000602214 0.000760356 0.000602 1 0 RGS4 5999 broad.mit.edu 37 1 163039313 163039313 + Missense_Mutation SNP G G C TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr1:163039313G>C uc009wuy.2 + 1 550 c.39G>C c.(37-39)TTG>TTC p.L13F RGS4_uc001gcl.3_Missense_Mutation_p.L110F|RGS4_uc009wuz.2_Missense_Mutation_p.L13F|RGS4_uc009wva.2_5'Flank NM_005613 NP_005604 P49798 RGS4_HUMAN regulator of G-protein signaling 4 isoform 2 13 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity ovary(2)|central_nervous_system(1) 3 CTTCTTGCTTGAGGAGGTAAG 0.428 Ovarian(76;1257 1738 3039 6086) NA OREG0013952 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 62 0 0 0.000602 0 0 BAT2L2 23215 broad.mit.edu 37 1 171504670 171504670 + Silent SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr1:171504670G>T uc010pmg.1 + 13 2237 c.1971G>T c.(1969-1971)CCG>CCT p.P657P NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN HBxAg transactivated protein 2 657 protein C-terminus binding 0 AACCTCGGCCGGCTGTATTAT 0.443 NA 61 189 2.81305e-35 5.67378e-35 0.00361 1 0 ASTN1 460 broad.mit.edu 37 1 176845701 176845701 + Silent SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr1:176845701G>A uc001glc.2 - 21 3647 c.3435C>T c.(3433-3435)TGC>TGT p.C1145C ASTN1_uc001glb.1_Silent_p.C1145C|ASTN1_uc001gld.1_Silent_p.C1145C NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 1153 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 CCACCACGGGGCATGGGGTCT 0.577 NA 25 64 0 0 0.005443 0 0 ASTN1 460 broad.mit.edu 37 1 176927584 176927584 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr1:176927584G>T uc001glc.2 - 10 1845 c.1633C>A c.(1633-1635)CCC>ACC p.P545T ASTN1_uc001glb.1_Missense_Mutation_p.P545T|ASTN1_uc001gld.1_Missense_Mutation_p.P545T|ASTN1_uc009wwx.1_Missense_Mutation_p.P545T NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 553 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 TTGCTGAGGGGCAACCACATG 0.557 NA 9 28 5.4927e-09 8.30008e-09 0.004482 1 0 FAM5C 339479 broad.mit.edu 37 1 190067324 190067324 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr1:190067324G>T uc001gse.1 - 8 2357 c.2125C>A c.(2125-2127)CGT>AGT p.R709S FAM5C_uc010pot.1_Missense_Mutation_p.R607S NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 709 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) TTATTTACACGGTCTCTGATC 0.483 NA 31 76 8.16721e-17 1.41883e-16 0.002096 1 0 PKP1 5317 broad.mit.edu 37 1 201293709 201293709 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr1:201293709G>T uc001gwd.2 + 11 2148 c.1897G>T c.(1897-1899)GGG>TGG p.G633W PKP1_uc001gwe.2_Missense_Mutation_p.G612W|PKP1_uc009wzm.2_Missense_Mutation_p.G220W NM_000299 NP_000290 Q13835 PKP1_HUMAN plakophilin 1 isoform 1b 633 ARM 8. 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 CAGAGTGATGGGTAAGGTCCC 0.572 NA 11 21 4.68919e-08 6.93185e-08 0.000673 1 0 CR1 1378 broad.mit.edu 37 1 207758146 207758146 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr1:207758146C>A uc001hfy.2 + 25 4245 c.4105C>A c.(4105-4107)CGC>AGC p.R1369S CR1_uc009xcl.1_Missense_Mutation_p.R919S|CR1_uc001hfx.2_Missense_Mutation_p.R1819S NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 1369 Extracellular (Potential).|Sushi 21. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 GAGCACCATCCGCTGCACAAG 0.522 NA 13 212 0.000308642 0.000390728 0.003163 1 0 USH2A 7399 broad.mit.edu 37 1 216592004 216592004 + Missense_Mutation SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr1:216592004G>A uc001hku.1 - 3 890 c.503C>T c.(502-504)ACA>ATA p.T168I USH2A_uc001hkv.2_Missense_Mutation_p.T168I NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 168 Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CCCATCTACTGTCTTTTCTAT 0.383 NA HNSCC(13;0.011) 8 107 0 0 0.00308 0 0 OBSCN 84033 broad.mit.edu 37 1 228557766 228557766 + Silent SNP C C T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr1:228557766C>T uc009xez.1 + 91 20135 c.20091C>T c.(20089-20091)TTC>TTT p.F6697F OBSCN_uc001hsr.1_Silent_p.F1326F NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 6697 Protein kinase 1. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) CCAAAGACTTCATCAAGGCTA 0.682 NA 5 77 0 0 0.001168 0 0 HEATR1 55127 broad.mit.edu 37 1 236761272 236761272 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr1:236761272C>A uc001hyd.1 - 5 634 c.509G>T c.(508-510)GGA>GTA p.G170V NM_018072 NP_060542 Q9H583 HEAT1_HUMAN protein BAP28 170 rRNA processing nucleolus|ribonucleoprotein complex protein binding ovary(2)|skin(1) 3 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TAACGGCACTCCAGATTGCTG 0.378 NA 26 54 1.04121e-07 1.51565e-07 0.005443 1 0 RYR2 6262 broad.mit.edu 37 1 237789031 237789031 + Silent SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr1:237789031C>A uc001hyl.1 + 40 6213 c.6093C>A c.(6091-6093)TCC>TCA p.S2031S NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2031 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GTCTGCTATCCCTGGTAGAAA 0.423 NA 26 81 1.42536e-11 2.27674e-11 0.004656 1 0 NLRP3 114548 broad.mit.edu 37 1 247592928 247592928 + Missense_Mutation SNP T T G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr1:247592928T>G uc001icr.2 + 6 2336 c.2198T>G c.(2197-2199)CTC>CGC p.L733R NLRP3_uc001ics.2_Missense_Mutation_p.L733R|NLRP3_uc001icu.2_Missense_Mutation_p.L733R|NLRP3_uc001icw.2_Intron|NLRP3_uc001icv.2_Intron|NLRP3_uc010pyw.1_Missense_Mutation_p.L731R NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 733 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TGCCGGGGCCTCTTTTCAGTT 0.478 NA 4 186 0 0 0.000248 0 0 OR11L1 391189 broad.mit.edu 37 1 248005039 248005039 + Nonsense_Mutation SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr1:248005039G>A uc001idn.1 - 1 160 c.160C>T c.(160-162)CGA>TGA p.R54* NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, 54 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GAGTGCAGTCGCAGGCCCTGG 0.537 NA 6 24 0 0 0.001168 0 0 OR2L3 391192 broad.mit.edu 37 1 248224863 248224863 + Missense_Mutation SNP A A C TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr1:248224863A>C uc001idx.1 + 1 880 c.880A>C c.(880-882)AAG>CAG p.K294Q OR2L13_uc001ids.2_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, 294 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CCTGAGGAACAAGGAGGTGAT 0.498 NA 27 79 0 0 0.00632 0 0 OR2M5 127059 broad.mit.edu 37 1 248308490 248308490 + Missense_Mutation SNP T T C TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr1:248308490T>C uc010pze.1 + 1 41 c.41T>C c.(40-42)CTC>CCC p.L14P NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, 14 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|kidney(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) GACTTCATCCTCCTGGGAATC 0.438 NA 9 449 0 0 0.000673 0 0 C10orf18 54906 broad.mit.edu 37 10 5788306 5788306 + Silent SNP A A G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr10:5788306A>G uc001iij.2 + 15 3547 c.2922A>G c.(2920-2922)CAA>CAG p.Q974Q C10orf18_uc001iik.2_Intron NM_017782 NP_060252 Q5VWN6 CJ018_HUMAN hypothetical protein LOC54906 974 ovary(1)|central_nervous_system(1) 2 CTGTTACTCAAGCCACATTCA 0.463 NA 6 85 0 0 0.001168 0 0 CACNB2 783 broad.mit.edu 37 10 18795447 18795447 + Missense_Mutation SNP G G C rs149253719 by1000genomes TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr10:18795447G>C uc001ipr.2 + 6 701 c.641G>C c.(640-642)AGT>ACT p.S214T CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Missense_Mutation_p.S214T|CACNB2_uc001ipt.2_Missense_Mutation_p.S214T|CACNB2_uc010qcl.1_RNA|CACNB2_uc001ipu.2_Missense_Mutation_p.S186T|CACNB2_uc001ipv.2_Missense_Mutation_p.S186T|CACNB2_uc009xka.1_Missense_Mutation_p.S186T|CACNB2_uc001ipw.2_Missense_Mutation_p.S159T|CACNB2_uc001ipx.2_Missense_Mutation_p.S159T|CACNB2_uc009xkb.1_Missense_Mutation_p.S160T|CACNB2_uc010qcm.1_Missense_Mutation_p.S160T|CACNB2_uc001ipz.2_Missense_Mutation_p.S160T|CACNB2_uc001ipy.2_Missense_Mutation_p.S160T|CACNB2_uc010qcn.1_Missense_Mutation_p.S166T|CACNB2_uc010qco.1_Missense_Mutation_p.S166T|CACNB2_uc001iqa.2_Missense_Mutation_p.S166T NM_201596 NP_963890 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 214 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity large_intestine(1)|central_nervous_system(1)|skin(1) 3 Magnesium Sulfate(DB00653)|Verapamil(DB00661) ATAGTACCTAGTTCCAGAAAA 0.373 NA 9 43 0 0 0.000673 0 0 CACNB2 783 broad.mit.edu 37 10 18795465 18795465 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr10:18795465C>A uc001ipr.2 + 6 719 c.659C>A c.(658-660)CCT>CAT p.P220H CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Missense_Mutation_p.P220H|CACNB2_uc001ipt.2_Missense_Mutation_p.P220H|CACNB2_uc010qcl.1_RNA|CACNB2_uc001ipu.2_Missense_Mutation_p.P192H|CACNB2_uc001ipv.2_Missense_Mutation_p.P192H|CACNB2_uc009xka.1_Missense_Mutation_p.P192H|CACNB2_uc001ipw.2_Missense_Mutation_p.P165H|CACNB2_uc001ipx.2_Missense_Mutation_p.P165H|CACNB2_uc009xkb.1_Missense_Mutation_p.P166H|CACNB2_uc010qcm.1_Missense_Mutation_p.P166H|CACNB2_uc001ipz.2_Missense_Mutation_p.P166H|CACNB2_uc001ipy.2_Missense_Mutation_p.P166H|CACNB2_uc010qcn.1_Missense_Mutation_p.P172H|CACNB2_uc010qco.1_Missense_Mutation_p.P172H|CACNB2_uc001iqa.2_Missense_Mutation_p.P172H NM_201596 NP_963890 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 220 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity large_intestine(1)|central_nervous_system(1)|skin(1) 3 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AAATCAACACCTCCATCATCT 0.363 NA 18 28 1.50039e-11 2.37271e-11 0.001882 1 0 ANKRD26 22852 broad.mit.edu 37 10 27375513 27375513 + Missense_Mutation SNP T T G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr10:27375513T>G uc001ith.2 - 5 836 c.664A>C c.(664-666)AAA>CAA p.K222Q ANKRD26_uc009xku.1_Missense_Mutation_p.K222Q NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 222 centrosome large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1) 4 CTTTCTTCTTTATATTCTGAA 0.264 NA 36 121 0 0 0.006999 0 0 PPYR1 5540 broad.mit.edu 37 10 47087519 47087519 + Missense_Mutation SNP C C A rs151042454 byFrequency TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr10:47087519C>A uc001jee.2 + 3 1155 c.736C>A c.(736-738)CGC>AGC p.R246S ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Missense_Mutation_p.R246S NM_005972 NP_005963 P50391 NPY4R_HUMAN pancreatic polypeptide receptor 1 246 Cytoplasmic (Potential). blood circulation|digestion|feeding behavior integral to plasma membrane ovary(1)|skin(1) 2 GAGGCAGGGGCGCGTGTTTCA 0.592 NA 12 70 0.00010058 0.000130452 0.001368 1 0 DNA2 1763 broad.mit.edu 37 10 70202766 70202766 + Silent SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr10:70202766G>A uc001jof.2 - 9 1581 c.1581C>T c.(1579-1581)TTC>TTT p.F527F DNA2_uc001jog.1_Silent_p.F441F|DNA2_uc001joh.1_RNA NM_001080449 NP_001073918 P51530 DNA2L_HUMAN DNA replication helicase 2 homolog 441 base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication mitochondrial nucleoid|nucleoplasm 5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base 0 ACCAAAGGCTGAAATATTCTA 0.398 NA 9 24 0 0 0.004482 0 0 HTR7 3363 broad.mit.edu 37 10 92616928 92616928 + Silent SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr10:92616928C>A uc001kha.2 - 1 744 c.501G>T c.(499-501)ACG>ACT p.T167T HTR7_uc001kgz.2_Silent_p.T167T|HTR7_uc001khb.2_Silent_p.T167T NM_019859 NP_062873 P34969 5HT7R_HUMAN 5-hydroxytryptamine receptor 7 isoform d 167 Helical; Name=3; (By similarity). blood circulation|circadian rhythm integral to plasma membrane protein binding|serotonin receptor activity ovary(1) 1 Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246) TGATCGAGGCCGTGCAGCACA 0.617 NA 17 7 5.3912e-06 7.26973e-06 0.006122 1 0 DNTT 1791 broad.mit.edu 37 10 98078206 98078206 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr10:98078206C>A uc001kmf.2 + 2 471 c.301C>A c.(301-303)CTC>ATC p.L101I DNTT_uc001kmg.2_Missense_Mutation_p.L101I NM_004088 NP_004079 P04053 TDT_HUMAN terminal deoxynucleotidyltransferase isoform 1 101 BRCT. DNA modification nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding ovary(1) 1 Colorectal(252;0.0815)|all_hematologic(284;0.224) Epithelial(162;7.97e-08)|all cancers(201;1.89e-06) ACAACCAGAGCTCCTCGATGT 0.488 NA 39 116 2.19358e-23 4.12705e-23 0.005524 1 0 C10orf28 27291 broad.mit.edu 37 10 99969246 99969246 + Missense_Mutation SNP A A G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr10:99969246A>G uc001kow.3 + 4 1670 c.1375A>G c.(1375-1377)ACA>GCA p.T459A C10orf28_uc001kox.3_Missense_Mutation_p.T459A|C10orf28_uc001koy.3_Missense_Mutation_p.T459A|C10orf28_uc009xvx.2_Missense_Mutation_p.T459A|C10orf28_uc009xvy.2_Intron|C10orf28_uc001koz.3_Intron NM_014472 NP_055287 Q4KMY3 Q4KMY3_HUMAN growth inhibition and differentiation related 459 nucleotide binding large_intestine(1)|skin(1) 2 Colorectal(252;0.234) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09) TACAGAGTCAACAGGAAAGTT 0.378 NA 8 70 0 0 0.004482 0 0 SH3PXD2A 9644 broad.mit.edu 37 10 105362429 105362429 + Missense_Mutation SNP C C G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr10:105362429C>G uc001kxj.1 - 14 2602 c.2462G>C c.(2461-2463)AGC>ACC p.S821T SH3PXD2A_uc010qqr.1_Intron|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.S656T|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.S698T|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.S656T|SH3PXD2A_uc010qqu.1_Missense_Mutation_p.S764T NM_014631 NP_055446 Q5TCZ1 SPD2A_HUMAN SH3 multiple domains 1 849 SH3 4. 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) CTGGTAGGCGCTGCATGTCAT 0.612 NA 11 65 0 0 0.000978 0 0 SYCE1 93426 broad.mit.edu 37 10 135367822 135367822 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr10:135367822G>T uc009ybn.2 - 13 1034 c.929C>A c.(928-930)CCA>CAA p.P310Q CYP2E1_uc001lnl.1_Intron|SYCE1_uc001lnm.2_Missense_Mutation_p.P182Q|SYCE1_uc001lnn.2_Missense_Mutation_p.P274Q NM_001143763 NP_001137235 Q8N0S2 SYCE1_HUMAN synaptonemal complex central element protein 1 311 cell division central element ovary(1) 1 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) TGGTCTACCTGGTCTGGGAGC 0.468 NA 25 71 1.5548e-18 2.76151e-18 0.005443 1 0 OR52E2 119678 broad.mit.edu 37 11 5080209 5080209 + Missense_Mutation SNP G G C TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr11:5080209G>C uc010qyw.1 - 1 649 c.649C>G c.(649-651)CTT>GTT p.L217V NM_001005164 NP_001005164 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, 217 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) ACATAAGAAAGGGCAATGACT 0.408 NA 4 75 0 0 0.000602 0 0 UBQLN3 50613 broad.mit.edu 37 11 5529784 5529784 + Missense_Mutation SNP G G C TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr11:5529784G>C uc001may.1 - 2 1091 c.1005C>G c.(1003-1005)AAC>AAG p.N335K HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank NM_017481 NP_059509 Q9H347 UBQL3_HUMAN ubiquilin 3 335 ovary(3) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TACCCAGAAAGTTTGGAAACC 0.512 Ovarian(72;684 1260 12332 41642 52180) NA 3 118 0 0 0.004672 0 0 OLFML1 283298 broad.mit.edu 37 11 7530834 7530834 + Silent SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr11:7530834C>A uc001mfi.2 + 3 976 c.624C>A c.(622-624)ATC>ATA p.I208I OLFML1_uc010raz.1_Silent_p.I72I|OLFML1_uc010rba.1_Silent_p.I208I NM_198474 NP_940876 Q6UWY5 OLFL1_HUMAN olfactomedin-like 1 precursor 208 Olfactomedin-like. extracellular region ovary(2) 2 Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) GGAAGCAAATCCTAACACTTT 0.403 NA 24 36 3.7963e-18 6.69274e-18 0.00333 1 0 USP47 55031 broad.mit.edu 37 11 11976665 11976665 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr11:11976665G>T uc001mjs.2 + 27 4610 c.3847G>T c.(3847-3849)GTC>TTC p.V1283F USP47_uc001mjr.2_Missense_Mutation_p.V1215F|USP47_uc009ygi.2_Missense_Mutation_p.V85F NM_017944 NP_060414 Q96K76 UBP47_HUMAN ubiquitin specific protease 47 1303 base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding ovary(1)|skin(1) 2 Epithelial(150;0.000339) TACCCTGAATGTCTGGCCTCT 0.358 NA 46 101 2.56662e-36 5.19876e-36 0.003214 1 0 TPH1 7166 broad.mit.edu 37 11 18047172 18047172 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr11:18047172C>A uc001mnp.2 - 7 906 c.880G>T c.(880-882)GGC>TGC p.G294C TPH1_uc009yhe.2_RNA NM_004179 NP_004170 P17752 TPH1_HUMAN tryptophan hydroxylase 1 294 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity 0 L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360) GAAGCCAAGCCAATTTCTTGG 0.453 NA 42 83 3.43241e-23 6.40717e-23 0.002222 1 0 DCDC1 341019 broad.mit.edu 37 11 31329334 31329334 + Missense_Mutation SNP C C G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr11:31329334C>G uc001msv.2 - 4 488 c.286G>C c.(286-288)GAT>CAT p.D96H DCDC1_uc001msu.1_5'UTR NM_181807 NP_861523 P59894 DCDC1_HUMAN doublecortin domain containing 1 96 intracellular signal transduction skin(1) 1 Lung SC(675;0.225) GTGGAGCAATCTTGAAGTCCT 0.388 NA 5 279 0 0 0.001984 0 0 AMBRA1 55626 broad.mit.edu 37 11 46455071 46455071 + Nonsense_Mutation SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr11:46455071G>A uc010rgu.1 - 14 3289 c.2929C>T c.(2929-2931)CAG>TAG p.Q977* AMBRA1_uc010rgt.1_Nonsense_Mutation_p.Q543*|AMBRA1_uc009ylc.1_Nonsense_Mutation_p.Q948*|AMBRA1_uc001ncu.1_Nonsense_Mutation_p.Q887*|AMBRA1_uc001ncv.2_Nonsense_Mutation_p.Q980*|AMBRA1_uc001ncw.2_Nonsense_Mutation_p.Q858*|AMBRA1_uc001ncx.2_Nonsense_Mutation_p.Q917* NM_017749 NP_060219 Q9C0C7 AMRA1_HUMAN activating molecule in beclin-1-regulated 977 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) CTGAAGACCTGGGCCACCATG 0.582 NA 8 20 0 0 0.00308 0 0 MS4A14 84689 broad.mit.edu 37 11 60184410 60184410 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr11:60184410C>A uc001npj.2 + 5 2534 c.1969C>A c.(1969-1971)CAC>AAC p.H657N MS4A14_uc001npi.2_Missense_Mutation_p.H545N|MS4A14_uc001npn.2_Missense_Mutation_p.H395N|MS4A14_uc001npk.2_Missense_Mutation_p.H640N|MS4A14_uc001npl.2_Missense_Mutation_p.H395N|MS4A14_uc001npm.2_Missense_Mutation_p.H395N NM_032597 NP_115986 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 657 Gln-rich. integral to membrane receptor activity breast(1) 1 CTGGCAATTCCACAAAGGCAA 0.453 NA 34 85 1.62565e-12 2.62308e-12 0.002445 1 0 INTS5 80789 broad.mit.edu 37 11 62416483 62416483 + Nonsense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr11:62416483C>A uc001nud.2 - 2 1122 c.1069G>T c.(1069-1071)GGA>TGA p.G357* GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank NM_030628 NP_085131 Q6P9B9 INT5_HUMAN integrator complex subunit 5 357 snRNA processing integral to membrane|integrator complex protein binding ovary(2) 2 ACAAGCTCTCCAGAGACAGTG 0.602 NA 25 56 5.35047e-06 7.25591e-06 0.00333 1 0 ZBTB3 79842 broad.mit.edu 37 11 62519947 62519947 + Missense_Mutation SNP A A T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr11:62519947A>T uc001nuz.2 - 2 1462 c.1340T>A c.(1339-1341)CTG>CAG p.L447Q NM_024784 NP_079060 Q9H5J0 ZBTB3_HUMAN zinc finger and BTB domain containing 3 447 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1) 3 TGGCTCATGCAGGGATGCGGG 0.552 NA 21 54 0 0 0.00278 0 0 NXF1 10482 broad.mit.edu 37 11 62568674 62568674 + Splice_Site SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr11:62568674C>A uc001nvf.1 - 9 935 c.799_splice c.e9-1 p.L267_splice NXF1_uc001nvg.1_Splice_Site_p.L267_splice|NXF1_uc009yog.1_Splice_Site_p.L310_splice|NXF1_uc010rmh.1_Splice_Site_p.L130_splice NM_006362 NP_006353 Q9UBU9 NXF1_HUMAN nuclear RNA export factor 1 isoform 1 gene expression|interspecies interaction between organisms cytosol|nuclear speck nucleotide binding|protein binding skin(3) 3 AGGACAATAGCTGTGAGGAGA 0.493 NA 13 44 0.000151284 0.000194625 0.001855 1 0 NXF1 10482 broad.mit.edu 37 11 62571288 62571288 + Missense_Mutation SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr11:62571288G>A uc001nvf.1 - 2 327 c.191C>T c.(190-192)GCC>GTC p.A64V NXF1_uc001nvg.1_Missense_Mutation_p.A64V|NXF1_uc009yog.1_Missense_Mutation_p.A107V|NXF1_uc010rmh.1_Intron NM_006362 NP_006353 Q9UBU9 NXF1_HUMAN nuclear RNA export factor 1 isoform 1 64 Interaction with THOC4. gene expression|interspecies interaction between organisms cytosol|nuclear speck nucleotide binding|protein binding skin(3) 3 ACCATCCTGGGCATCACTCAT 0.483 NA 16 153 0 0 0.007413 0 0 SART1 9092 broad.mit.edu 37 11 65743992 65743992 + Missense_Mutation SNP C C G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr11:65743992C>G uc001ogl.2 + 13 1791 c.1699C>G c.(1699-1701)CCC>GCC p.P567A NM_005146 NP_005137 O43290 SNUT1_HUMAN squamous cell carcinoma antigen recognized by T 567 cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly Cajal body|catalytic step 2 spliceosome|cytosol ovary(1) 1 GGGGGAGATCCCCACCTACGG 0.697 NA 8 32 0 0 0.000978 0 0 SHANK2 22941 broad.mit.edu 37 11 70507767 70507767 + Missense_Mutation SNP C C G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr11:70507767C>G uc001oqc.2 - 13 1948 c.1870G>C c.(1870-1872)GAG>CAG p.E624Q SHANK2_uc010rqn.1_Missense_Mutation_p.E36Q|SHANK2_uc001opz.2_Missense_Mutation_p.E36Q|uc009ysn.1_Intron|SHANK2_uc010rqp.1_Missense_Mutation_p.E36Q NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 245 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) ACCGTCTTCTCCTCAATAATG 0.547 NA 27 202 0 0 0.00632 0 0 LRRC32 2615 broad.mit.edu 37 11 76371671 76371671 + Missense_Mutation SNP C C G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr11:76371671C>G uc001oxq.3 - 3 1209 c.966G>C c.(964-966)TTG>TTC p.L322F LRRC32_uc001oxr.3_Missense_Mutation_p.L322F|LRRC32_uc010rsf.1_Missense_Mutation_p.L322F NM_005512 NP_005503 Q14392 LRC32_HUMAN leucine rich repeat containing 32 precursor 322 LRR 11.|Extracellular (Potential). integral to plasma membrane 0 CATTGTAGCTCAAATCCAGAT 0.597 NA 22 45 0 0 0.002299 0 0 CADM1 23705 broad.mit.edu 37 11 115049441 115049441 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr11:115049441C>A uc001ppi.3 - 9 1262 c.1133G>T c.(1132-1134)GGT>GTT p.G378V CADM1_uc001ppf.3_Missense_Mutation_p.G350V|CADM1_uc001ppk.3_Missense_Mutation_p.G350V|CADM1_uc001ppj.3_Missense_Mutation_p.G379V|CADM1_uc001pph.3_Missense_Mutation_p.G141V NM_014333 NP_055148 Q9BY67 CADM1_HUMAN immunoglobulin superfamily, member 4D isoform 1 378 Helical; (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) CACGACGCCACCGATCACGGC 0.512 NA 10 131 7.48243e-07 1.03536e-06 0.006214 1 0 ZNF202 7753 broad.mit.edu 37 11 123597329 123597329 + Silent SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr11:123597329G>A uc001pzd.1 - 9 1723 c.1323C>T c.(1321-1323)GCC>GCT p.A441A ZNF202_uc001pzc.1_Silent_p.A217A|ZNF202_uc001pze.1_Silent_p.A441A|ZNF202_uc001pzf.1_Silent_p.A441A NM_003455 NP_003446 O95125 ZN202_HUMAN zinc finger protein 202 441 C2H2-type 2. 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) TTTGGTGCCTGGCAAGATGTG 0.468 NA 47 96 0 0 0.00361 0 0 ROBO3 64221 broad.mit.edu 37 11 124740965 124740965 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr11:124740965C>A uc001qbc.2 + 7 1281 c.1089C>A c.(1087-1089)AGC>AGA p.S363R NM_022370 NP_071765 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 363 Ig-like C2-type 4.|Extracellular (Potential). axon midline choice point recognition integral to membrane receptor activity breast(1)|central_nervous_system(1) 2 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) CTGGAGAGAGCGTGGCTTTCC 0.602 NA 22 46 1.22574e-08 1.83475e-08 0.002299 1 0 DCPS 28960 broad.mit.edu 37 11 126215396 126215396 + Missense_Mutation SNP T T C TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr11:126215396T>C uc001qdp.2 + 6 1231 c.902T>C c.(901-903)GTG>GCG p.V301A uc001qdq.1_Intron NM_014026 NP_054745 Q96C86 DCPS_HUMAN mRNA decapping enzyme 301 deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus exoribonuclease activity|protein binding 0 all_hematologic(175;0.145) Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604) BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08) CTGGCTGAGGTGATCGAGAAC 0.652 NA 19 108 0 0 0.001216 0 0 PRDM10 56980 broad.mit.edu 37 11 129784679 129784679 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr11:129784679G>T uc001qfm.2 - 18 3005 c.2773C>A c.(2773-2775)CAG>AAG p.Q925K PRDM10_uc001qfj.2_Missense_Mutation_p.Q839K|PRDM10_uc001qfk.2_Missense_Mutation_p.Q835K|PRDM10_uc001qfl.2_Missense_Mutation_p.Q839K|PRDM10_uc010sbx.1_Missense_Mutation_p.Q835K|PRDM10_uc001qfn.2_Missense_Mutation_p.Q921K|PRDM10_uc009zcs.1_Missense_Mutation_p.Q108K NM_020228 NP_064613 Q9NQV6 PRD10_HUMAN PR domain containing 10 isoform 1 925 Gln-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) GGGATGTACTGAATTCTCTGG 0.562 NA 78 123 4.75426e-39 9.67105e-39 0.00361 1 0 ACAD8 27034 broad.mit.edu 37 11 134131719 134131719 + Nonsense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr11:134131719G>T uc001qhk.2 + 9 1088 c.1027G>T c.(1027-1029)GAG>TAG p.E343* ACAD8_uc010scp.1_RNA|ACAD8_uc010scq.1_Nonsense_Mutation_p.E266*|ACAD8_uc001qhl.2_Nonsense_Mutation_p.E216* NM_014384 NP_055199 Q9UKU7 ACAD8_HUMAN acyl-Coenzyme A dehydrogenase family, member 8 343 branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding 0 all_hematologic(175;0.127) all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559) Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21) TCTGCAGGAGGAGAGGAAGGA 0.567 GBM(65;238 1125 33403 41853 48889) NA 16 31 2.62699e-14 4.37219e-14 0.003163 1 0 HSN2 378465 broad.mit.edu 37 12 977030 977030 + Missense_Mutation SNP A A G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr12:977030A>G uc001qiq.2 + 1 161 c.35A>G c.(34-36)CAG>CGG p.Q12R WNK1_uc001qio.3_Intron|WNK1_uc001qip.3_Intron|WNK1_uc001qir.3_Intron NM_213655 NP_998820 hereditary sensory neuropathy, type II 0 all_cancers(10;0.0107)|all_epithelial(11;0.0151)|Ovarian(42;0.0512)|all_lung(10;0.0521)|Lung NSC(10;0.0987) OV - Ovarian serous cystadenocarcinoma(31;0.000967)|BRCA - Breast invasive adenocarcinoma(9;0.0178) ATGTTGATACAGCCTCAGTCC 0.413 NA 14 30 0 0 0.00245 0 0 SPSB2 84727 broad.mit.edu 37 12 6981812 6981812 + Nonsense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr12:6981812G>T uc001qrl.2 - 2 410 c.254C>A c.(253-255)TCA>TAA p.S85* SPSB2_uc001qrm.2_Nonsense_Mutation_p.S85*|SPSB2_uc010sfp.1_Nonsense_Mutation_p.S85*|LRRC23_uc001qrn.1_5'Flank NM_001146316 NP_001139788 Q99619 SPSB2_HUMAN splA/ryanodine receptor domain and SOCS box 85 B30.2/SPRY. intracellular signal transduction cytoplasm protein binding kidney(1) 1 CAGGCCCCTTGAATAGCCCCT 0.662 NA OREG0021639 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 31 1.10513e-12 1.78926e-12 0.002299 1 0 A2M 2 broad.mit.edu 37 12 9231857 9231857 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr12:9231857C>A uc001qvk.1 - 25 3215 c.3102G>T c.(3100-3102)AGG>AGT p.R1034S A2M_uc001qvj.1_Missense_Mutation_p.R76S|A2M_uc009zgk.1_Missense_Mutation_p.R884S NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 1034 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) TGCCCTGGTTCCTGCCATATC 0.303 NA 20 61 5.26018e-13 8.57481e-13 0.001882 1 0 SLCO1A2 6579 broad.mit.edu 37 12 21471751 21471751 + Missense_Mutation SNP G G C TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr12:21471751G>C uc001rer.2 - 2 418 c.167C>G c.(166-168)TCT>TGT p.S56C SLCO1A2_uc001res.2_Missense_Mutation_p.S56C|SLCO1A2_uc010siq.1_Translation_Start_Site|SLCO1A2_uc010sio.1_Translation_Start_Site|SLCO1A2_uc010sip.1_Intron|SLCO1A2_uc001ret.2_Missense_Mutation_p.S54C|SLCO1A2_uc001reu.2_Missense_Mutation_p.S36C NM_021094 NP_066580 P46721 SO1A2_HUMAN organic anion transporting polypeptide A 56 Extracellular (Potential). bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(1)|pancreas(1)|ovary(1)|skin(1) 4 TCCAACTAGAGATGTTGGGAT 0.338 NA 37 90 0 0 0.00623 0 0 ABCC9 10060 broad.mit.edu 37 12 22068791 22068791 + Missense_Mutation SNP C C G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr12:22068791C>G uc001rfi.1 - 5 647 c.627G>C c.(625-627)CAG>CAC p.Q209H ABCC9_uc001rfh.2_Missense_Mutation_p.Q209H|ABCC9_uc001rfj.1_Missense_Mutation_p.Q209H NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 209 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) CTCCCAGATCCTGGAGGTCTT 0.363 NA 28 57 0 0 0.007291 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr12:25398284C>A uc001rgp.1 - 2 216 c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 15 16 8.60227e-14 1.42176e-13 0.004007 1 0 ANO6 196527 broad.mit.edu 37 12 45781954 45781954 + Missense_Mutation SNP T T A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr12:45781954T>A uc001roo.2 + 11 1511 c.1176T>A c.(1174-1176)TTT>TTA p.F392L ANO6_uc010sld.1_Missense_Mutation_p.F392L|ANO6_uc010sle.1_Missense_Mutation_p.F392L|ANO6_uc010slf.1_Missense_Mutation_p.F413L|ANO6_uc010slg.1_Missense_Mutation_p.F374L NM_001025356 NP_001020527 Q4KMQ2 ANO6_HUMAN anoctamin 6 isoform a 392 Helical; (Potential). activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet chloride channel complex|plasma membrane chloride channel activity ovary(1)|kidney(1) 2 TTACCTTGTTTTTGGAGTTTT 0.393 NA 7 136 0 0 0.004482 0 0 KRT6B 3854 broad.mit.edu 37 12 52843583 52843583 + Missense_Mutation SNP G G C TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr12:52843583G>C uc001sak.2 - 4 919 c.871C>G c.(871-873)CTT>GTT p.L291V NM_005555 NP_005546 P04259 K2C6B_HUMAN keratin 6B 291 Coil 1B.|Rod. ectoderm development keratin filament structural constituent of cytoskeleton ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.083) TCATCTGTAAGAGTGTCTGCC 0.498 NA 6 148 0 0 0.001984 0 0 TARBP2 6895 broad.mit.edu 37 12 53899014 53899014 + Missense_Mutation SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr12:53899014G>A uc001sdo.2 + 7 1197 c.709G>A c.(709-711)GAG>AAG p.E237K TARBP2_uc001sdp.2_Missense_Mutation_p.E216K|TARBP2_uc001sdq.2_Missense_Mutation_p.E93K|TARBP2_uc001sdr.2_Missense_Mutation_p.E93K|TARBP2_uc001sds.2_Intron|TARBP2_uc001sdt.2_Missense_Mutation_p.E216K|TARBP2_uc001sdu.2_Missense_Mutation_p.E93K|TARBP2_uc001sdv.2_RNA NM_134323 NP_599150 Q15633 TRBP2_HUMAN TAR RNA binding protein 2 isoform a 237 Sufficient for interaction with DICER1. miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex double-stranded RNA binding|protein homodimerization activity|siRNA binding central_nervous_system(1) 1 GGATGGCAATGAGGTGGAGCC 0.602 NA 6 86 0 0 0.001984 0 0 ARHGAP9 64333 broad.mit.edu 37 12 57867885 57867885 + Silent SNP G G T rs61758883 byFrequency TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr12:57867885G>T uc001sod.2 - 19 2321 c.2128C>A c.(2128-2130)CGG>AGG p.R710R ARHGAP9_uc001sny.2_Intron|ARHGAP9_uc001snz.2_Silent_p.R436R|ARHGAP9_uc001soa.2_Silent_p.R309R|ARHGAP9_uc001sob.2_Silent_p.R620R|ARHGAP9_uc001soc.2_Silent_p.R620R|ARHGAP9_uc001soe.1_Silent_p.R699R NM_032496 NP_115885 Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 isoform 1 639 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) GGCAGCTCCCGGAGAAAAAGC 0.572 NA 5 42 1.23904e-05 1.63375e-05 0.000602 1 0 KIF5A 3798 broad.mit.edu 37 12 57972080 57972080 + Silent SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr12:57972080C>A uc001sor.1 + 23 2701 c.2493C>A c.(2491-2493)TCC>TCA p.S831S KIF5A_uc010srr.1_Silent_p.S742S NM_004984 NP_004975 Q12840 KIF5A_HUMAN kinesin family member 5A 831 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity ovary(2)|skin(1) 3 AGAAGATTTCCTTTCTTGAGA 0.483 NA 49 105 2.74695e-27 5.31524e-27 0.00361 1 0 KCNC2 3747 broad.mit.edu 37 12 75444758 75444758 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr12:75444758C>A uc001sxg.1 - 3 1571 c.1027G>T c.(1027-1029)GTG>TTG p.V343L KCNC2_uc009zry.2_Missense_Mutation_p.V343L|KCNC2_uc001sxe.2_Missense_Mutation_p.V343L|KCNC2_uc001sxf.2_Missense_Mutation_p.V343L|KCNC2_uc010stw.1_Missense_Mutation_p.V343L NM_139137 NP_631875 Q96PR1 KCNC2_HUMAN Shaw-related voltage-gated potassium channel 343 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(2)|pancreas(2)|skin(1)|lung(1) 6 AAGCCAAGCACATCTTTAGCA 0.458 NA 16 53 1.01871e-10 1.59509e-10 0.001216 1 0 TBX5 6910 broad.mit.edu 37 12 114793673 114793673 + Nonsense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr12:114793673G>T uc001tvo.2 - 9 1716 c.1221C>A c.(1219-1221)TAC>TAA p.Y407* TBX5_uc001tvp.2_Nonsense_Mutation_p.Y407*|TBX5_uc001tvq.2_Nonsense_Mutation_p.Y357* NM_181486 NP_852259 Q99593 TBX5_HUMAN T-box 5 isoform 1 407 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) TGCAGCTGCTGTAGGAAGGCA 0.647 NSCLC(152;1358 1980 4050 23898 40356) NA 18 52 3.32936e-07 4.67485e-07 0.006122 1 0 ORAI1 84876 broad.mit.edu 37 12 122079355 122079355 + Missense_Mutation SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr12:122079355G>A uc010szz.1 + 3 905 c.712G>A c.(712-714)GCC>ACC p.A238T NM_032790 NP_116179 Q96D31 CRCM1_HUMAN calcium release-activated calcium channel 238 Helical; (Potential). platelet activation|positive regulation of calcium ion transport integral to plasma membrane protein binding|store-operated calcium channel activity 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148) AGCTGCCATCGCCTCGACCAC 0.642 NA 9 62 0 0 0.004482 0 0 IL31 386653 broad.mit.edu 37 12 122657105 122657105 + Nonsense_Mutation SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr12:122657105G>A uc001ubv.2 - 3 376 c.349C>T c.(349-351)CAA>TAA p.Q117* LRRC43_uc001ubw.3_Intron|LRRC43_uc009zxl.1_Intron NM_001014336 NP_001014358 Q6EBC2 IL31_HUMAN interleukin 31 precursor 117 extracellular space cytokine activity central_nervous_system(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;6.93e-05)|Breast(359;0.0544) OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223) GGTGCATCTTGAAATATGAGT 0.433 NA 18 116 0 0 0.007413 0 0 ABCB9 23457 broad.mit.edu 37 12 123419912 123419912 + Silent SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr12:123419912G>A uc001udm.3 - 10 2120 c.1810C>T c.(1810-1812)CTG>TTG p.L604L ABCB9_uc010tai.1_Silent_p.L211L|ABCB9_uc009zxr.2_Intron|ABCB9_uc001udo.3_Silent_p.L561L|ABCB9_uc010taj.1_Silent_p.L541L|ABCB9_uc001udp.2_Silent_p.L604L|ABCB9_uc001udq.2_Silent_p.L323L NM_019625 NP_062571 Q9NP78 ABCB9_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), 604 ABC transporter. positive regulation of T cell mediated cytotoxicity|protein transport lysosomal membrane|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111) ACAGTGGGCAGGCCGTAGGAG 0.617 Ovarian(49;786 1333 9175 38236) NA 4 63 0 0 0.000602 0 0 CHFR 55743 broad.mit.edu 37 12 133438086 133438086 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr12:133438086C>A uc001ulf.2 - 7 838 c.754G>T c.(754-756)GAT>TAT p.D252Y CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Missense_Mutation_p.D240Y|CHFR_uc010tbs.1_Missense_Mutation_p.D252Y|CHFR_uc001uld.2_Missense_Mutation_p.D211Y|CHFR_uc010tbt.1_Missense_Mutation_p.D160Y NM_001161344 NP_001154816 Q96EP1 CHFR_HUMAN checkpoint with forkhead and ring finger domains 252 cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination PML body nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(1) 1 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00552)|all_epithelial(31;0.226) OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05) GGCTCCAAATCCTCCTGATCC 0.567 NA 41 105 9.39024e-22 1.71914e-21 0.002222 1 0 TUBA3C 7278 broad.mit.edu 37 13 19751729 19751729 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr13:19751729G>T uc009zzj.2 - 4 443 c.394C>A c.(394-396)CTG>ATG p.L132M NM_006001 NP_005992 Q13748 TBA3C_HUMAN tubulin, alpha 3c 132 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(3)|skin(2) 5 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) AAGCCCTGCAGTCCCGTGCAC 0.582 NA 15 52 1.49906e-05 1.96571e-05 0.00245 1 0 SHISA2 387914 broad.mit.edu 37 13 26620766 26620766 + Missense_Mutation SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr13:26620766G>A uc001uqm.1 - 2 858 c.773C>T c.(772-774)CCC>CTC p.P258L NM_001007538 NP_001007539 Q6UWI4 SHSA2_HUMAN shisa homolog 2 precursor 258 Cytoplasmic (Potential). multicellular organismal development endoplasmic reticulum membrane|integral to membrane ovary(1)|central_nervous_system(1) 2 AGCTGTCATGGGCACAGAGTC 0.572 NA 20 52 0 0 0.001216 0 0 TRPC4 7223 broad.mit.edu 37 13 38320115 38320115 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr13:38320115G>T uc001uws.2 - 3 1091 c.856C>A c.(856-858)CTT>ATT p.L286I TRPC4_uc010abv.2_5'UTR|TRPC4_uc001uwt.2_Missense_Mutation_p.L286I|TRPC4_uc010tey.1_Missense_Mutation_p.L286I|TRPC4_uc010abw.2_Intron|TRPC4_uc010abx.2_Missense_Mutation_p.L286I|TRPC4_uc010aby.2_Missense_Mutation_p.L286I NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 286 Cytoplasmic (Potential).|Multimerization domain (By similarity). 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) AGTCTTGCAAGATCATTTCCA 0.388 NA 10 203 0.000673444 0.000848041 0.000673 1 0 RB1 5925 broad.mit.edu 37 13 48947605 48947606 + Missense_Mutation DNP GA GA TT TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 GA GA - - GA GA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr13:48947605_48947606GA>TT uc001vcb.2 + 12 1358_1359 c.1192_1193GA>TT c.(1192-1194)GAA>TTA p.E398L RB1_uc010act.1_Missense_Mutation_p.E99L NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 398 Domain A.|Pocket; binds T and E1A. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(7) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TCAACCTTCAGAAAATCTGATT 0.287 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 5 197 0 0 0.004672 0 0 KLHL1 57626 broad.mit.edu 37 13 70456453 70456453 + Missense_Mutation SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr13:70456453G>A uc001vip.2 - 5 1983 c.1189C>T c.(1189-1191)CTT>TTT p.L397F KLHL1_uc010thm.1_Missense_Mutation_p.L336F NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 397 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) AAGGCAAGAAGCATGCTCAGG 0.398 NA 5 94 0 0 0.001168 0 0 UGGT2 55757 broad.mit.edu 37 13 96601613 96601613 + Silent SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr13:96601613G>A uc001vmt.2 - 13 1601 c.1431C>T c.(1429-1431)TCC>TCT p.S477S NM_020121 NP_064506 Q9NYU1 UGGG2_HUMAN UDP-glucose ceramide glucosyltransferase-like 2 477 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity ovary(2)|central_nervous_system(1) 3 TGCGCCTTATGGAAGGTACAC 0.294 NA 21 35 0 0 0.001216 0 0 MYO16 23026 broad.mit.edu 37 13 109699269 109699269 + Missense_Mutation SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr13:109699269G>A uc001vqt.1 + 24 2862 c.2736G>A c.(2734-2736)ATG>ATA p.M912I MYO16_uc010agk.1_Missense_Mutation_p.M934I|MYO16_uc001vqu.1_Missense_Mutation_p.M712I|MYO16_uc010tjh.1_Missense_Mutation_p.M424I NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 912 Myosin head-like 2. 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) TCTAGGTAATGTATGATGTTG 0.318 NA 13 113 0 0 0.00245 0 0 COL4A1 1282 broad.mit.edu 37 13 110813626 110813626 + Missense_Mutation SNP T T A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr13:110813626T>A uc001vqw.3 - 49 4675 c.4553A>T c.(4552-4554)GAC>GTC p.D1518V COL4A1_uc010agl.2_Intron NM_001845 NP_001836 P02462 CO4A1_HUMAN alpha 1 type IV collagen preproprotein 1518 Collagen IV NC1. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) GTACGAGTAGTCATTTCGTGA 0.517 NA 7 57 0 0 0.00308 0 0 OR11H12 440153 broad.mit.edu 37 14 19378063 19378063 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr14:19378063C>A uc010tkp.1 + 1 470 c.470C>A c.(469-471)GCC>GAC p.A157D NM_001013354 NP_001013372 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, 157 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CATCTCTGTGCCAAACTGGTC 0.468 NA 38 670 2.12129e-23 4.00687e-23 0.00361 1 0 RNASE13 440163 broad.mit.edu 37 14 21502073 21502073 + Nonsense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr14:21502073G>T uc001vzj.2 - 2 513 c.375C>A c.(373-375)TAC>TAA p.Y125* NDRG2_uc010tll.1_Intron NM_001012264 NP_001012264 Q5GAN3 RNS13_HUMAN ribonuclease, RNase A family, 13 precursor 125 extracellular region nucleic acid binding|pancreatic ribonuclease activity upper_aerodigestive_tract(1) 1 all_cancers(95;0.000759) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.019) GGGTGCTATTGTAGTAGCAGC 0.498 NA 21 171 1.55795e-14 2.62043e-14 0.001882 1 0 RPGRIP1 57096 broad.mit.edu 37 14 21795901 21795901 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr14:21795901G>T uc001wag.2 + 17 2830 c.2830G>T c.(2830-2832)GGG>TGG p.G944W RPGRIP1_uc001wah.2_Missense_Mutation_p.G586W|RPGRIP1_uc001wai.2_Missense_Mutation_p.G270W|RPGRIP1_uc001wak.2_Missense_Mutation_p.G419W|RPGRIP1_uc010aim.2_Missense_Mutation_p.G327W|RPGRIP1_uc001wal.2_Missense_Mutation_p.G303W|RPGRIP1_uc001wam.2_Missense_Mutation_p.G261W NM_020366 NP_065099 Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator 944 response to stimulus|visual perception cilium ovary(4)|breast(2)|pancreas(1) 7 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) TCAGACTAAGGGGAAGGATAC 0.483 NA 18 43 1.02788e-11 1.65295e-11 0.00499 1 0 AKAP6 9472 broad.mit.edu 37 14 33292102 33292102 + Missense_Mutation SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr14:33292102G>A uc001wrq.2 + 13 5253 c.5083G>A c.(5083-5085)GAC>AAC p.D1695N NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 1695 Ser-rich. 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) TAGCAGCAGTGACGAGCTCTC 0.463 Melanoma(49;821 1200 7288 13647 42351) NA 7 132 0 0 0.00308 0 0 PPP2R3C 55012 broad.mit.edu 37 14 35554835 35554835 + Silent SNP T T G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr14:35554835T>G uc001wss.2 - 13 1677 c.1323A>C c.(1321-1323)GCA>GCC p.A441A PPP2R3C_uc001wst.2_Silent_p.A325A|PPP2R3C_uc010tpr.1_Silent_p.A325A|PPP2R3C_uc001wsu.2_RNA NM_017917 NP_060387 Q969Q6 P2R3C_HUMAN serine/threonine-protein phosphatase 2A 441 centrosome|nucleus calcium ion binding ovary(1) 1 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491) GBM - Glioblastoma multiforme(112;0.0803) CACTGTCATTTGCAACAAGAG 0.383 NA 19 73 0 0 0.001882 0 0 MDGA2 161357 broad.mit.edu 37 14 47351411 47351411 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr14:47351411C>A uc001wwj.3 - 11 2241 c.2045G>T c.(2044-2046)CGC>CTC p.R682L MDGA2_uc001wwh.3_5'UTR|MDGA2_uc001wwi.3_Missense_Mutation_p.R453L|MDGA2_uc010ani.2_Missense_Mutation_p.R242L NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 682 spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 CTCCCACCAGCGCTGCTGTCC 0.323 NA 11 49 0.000151284 0.000194625 0.001855 1 0 ATL1 51062 broad.mit.edu 37 14 51058328 51058328 + Missense_Mutation SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr14:51058328G>A uc001wyf.3 + 4 734 c.493G>A c.(493-495)GCC>ACC p.A165T ATL1_uc001wyd.3_Missense_Mutation_p.A165T|ATL1_uc001wye.3_Missense_Mutation_p.A165T NM_015915 NP_056999 Q8WXF7 ATLA1_HUMAN atlastin GTPase 1 isoform a 165 Cytoplasmic. axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome GTP binding|GTPase activity|identical protein binding skin(3)|central_nervous_system(1) 4 CACAGTATTTGCCCTTAGCAC 0.353 NA 20 61 0 0 0.001523 0 0 SAMD4A 23034 broad.mit.edu 37 14 55231189 55231189 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr14:55231189G>T uc001xbb.2 + 7 1525 c.1524G>T c.(1522-1524)TTG>TTT p.L508F SAMD4A_uc001xbc.2_Missense_Mutation_p.L420F|SAMD4A_uc001xbg.2_Missense_Mutation_p.L100F NM_015589 NP_056404 Q9UPU9 SMAG1_HUMAN sterile alpha motif domain containing 4 isoform 509 positive regulation of translation cell junction|cytoplasm|dendrite|synapse|synaptosome translation repressor activity 0 CACAGCTCTTGGTCTCCAGAC 0.388 NA 127 205 1.8369e-69 3.78513e-69 0.00361 1 0 LGMN 5641 broad.mit.edu 37 14 93199091 93199091 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr14:93199091C>A uc001yav.2 - 3 367 c.41G>T c.(40-42)GGC>GTC p.G14V LGMN_uc001yat.2_Missense_Mutation_p.G14V|LGMN_uc001yau.2_Missense_Mutation_p.G14V|LGMN_uc001yaw.2_Missense_Mutation_p.G14V|LGMN_uc010aul.2_5'UTR|LGMN_uc001yax.2_Missense_Mutation_p.G14V|LGMN_uc001yay.2_Missense_Mutation_p.G14V NM_001008530 NP_001008530 Q99538 LGMN_HUMAN legumain preproprotein 14 hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process lysosome cysteine-type endopeptidase activity|protein serine/threonine kinase activity skin(1) 1 all_cancers(154;0.0706) COAD - Colon adenocarcinoma(157;0.224) GGCACCAATGCCCAGGGCCAC 0.483 NA 32 121 1.06801e-11 1.7117e-11 0.001786 1 0 KIAA1409 57578 broad.mit.edu 37 14 94048570 94048570 + Missense_Mutation SNP G G C TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr14:94048570G>C uc001ybv.1 + 17 2235 c.2152G>C c.(2152-2154)GAT>CAT p.D718H KIAA1409_uc001ybs.1_Missense_Mutation_p.D718H NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 895 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) CAGCCTGGAGGATAGCCTCCT 0.562 NA 3 108 0 0 0.004672 0 0 SERPINA4 5267 broad.mit.edu 37 14 95030054 95030054 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr14:95030054C>A uc001ydk.2 + 2 301 c.235C>A c.(235-237)CCG>ACG p.P79T SERPINA4_uc010avd.2_Missense_Mutation_p.P116T|SERPINA4_uc001ydl.2_Missense_Mutation_p.P79T NM_006215 NP_006206 P29622 KAIN_HUMAN serine (or cysteine) proteinase inhibitor, clade 79 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity ovary(3)|skin(1) 4 COAD - Colon adenocarcinoma(157;0.211) CTTTTTCTCCCCGCTGAGCAT 0.612 NA 40 71 2.59497e-14 4.33406e-14 0.007835 1 0 DYNC1H1 1778 broad.mit.edu 37 14 102508450 102508450 + Missense_Mutation SNP C C T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr14:102508450C>T uc001yks.2 + 66 12367 c.12203C>T c.(12202-12204)TCA>TTA p.S4068L NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 4068 AAA 6 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 CAGATCACTTCAATTGCAATC 0.542 NA 24 45 0 0 0.004656 0 0 TRAF3 7187 broad.mit.edu 37 14 103371649 103371649 + Missense_Mutation SNP C C T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr14:103371649C>T uc001ymc.1 + 12 1588 c.1235C>T c.(1234-1236)GCC>GTC p.A412V TRAF3_uc001yme.1_Missense_Mutation_p.A387V|TRAF3_uc001ymd.1_Missense_Mutation_p.A412V|TRAF3_uc010txy.1_Missense_Mutation_p.A329V NM_145725 NP_663777 Q13114 TRAF3_HUMAN TNF receptor-associated factor 3 isoform 1 412 apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 all_cancers(154;7.87e-06)|all_epithelial(191;0.0024) Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971) CTGGAGACCGCCAGCTACAAT 0.612 NA 22 50 0 0 0.001523 0 0 ADAM6 8755 broad.mit.edu 37 14 106349907 106349907 + Splice_Site SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr14:106349907G>A uc010tyt.1 - 3173 c.50075_splice c.e3173-1 Parts of antibodies, mostly variable regions. 0 AGAGAGCCTGGGGGCTGCTCA 0.677 NA 4 18 0 0 0.000248 0 0 ARHGAP11A 9824 broad.mit.edu 37 15 32915737 32915737 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr15:32915737C>A uc001zgy.1 + 3 967 c.245C>A c.(244-246)ACC>AAC p.T82N ARHGAP11A_uc010ubw.1_5'UTR|ARHGAP11A_uc001zgw.2_Missense_Mutation_p.T82N|ARHGAP11A_uc001zgx.2_Missense_Mutation_p.T82N|ARHGAP11A_uc010ubx.1_5'UTR NM_014783 NP_055598 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A isoform 1 82 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity skin(3)|breast(2)|urinary_tract(1) 6 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) CATATTCATACCGAAGGGCTT 0.378 Colon(45;757 1134 30003 36652) NA 5 74 0.000157383 0.000201383 0.00308 1 0 PML 5371 broad.mit.edu 37 15 74290522 74290522 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr15:74290522G>T uc002awv.2 + 2 447 c.307G>T c.(307-309)GCC>TCC p.A103S PML_uc002awm.2_Missense_Mutation_p.A103S|PML_uc002awl.2_Missense_Mutation_p.A103S|PML_uc002awj.1_Missense_Mutation_p.A103S|PML_uc002awk.2_Missense_Mutation_p.A103S|PML_uc002awn.2_Missense_Mutation_p.A103S|PML_uc002awo.2_Missense_Mutation_p.A103S|PML_uc002awp.2_Missense_Mutation_p.A103S|PML_uc002awq.2_Missense_Mutation_p.A103S|PML_uc002awr.2_Missense_Mutation_p.A103S|PML_uc002aws.2_Missense_Mutation_p.A103S|PML_uc002awt.2_Missense_Mutation_p.A103S|PML_uc002awu.2_Missense_Mutation_p.A103S|PML_uc010ule.1_Intron|PML_uc002aww.1_Missense_Mutation_p.A18S NM_033238 NP_150241 P29590 PML_HUMAN promyelocytic leukemia protein isoform 1 103 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 AGACACACCCGCCCTGGATAA 0.647 NA T RARA|PAX5 APL|ALL 6 37 1.06961e-07 1.55224e-07 0.00308 1 0 NTRK3 4916 broad.mit.edu 37 15 88669523 88669523 + Missense_Mutation SNP G G C TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr15:88669523G>C uc002bme.1 - 12 1537 c.1375C>G c.(1375-1377)CGG>GGG p.R459G NTRK3_uc002bmh.2_Missense_Mutation_p.R451G|NTRK3_uc002bmf.1_Missense_Mutation_p.R459G|NTRK3_uc010upl.1_Missense_Mutation_p.R361G|NTRK3_uc010bnh.1_Missense_Mutation_p.R451G|NTRK3_uc002bmg.2_Missense_Mutation_p.R459G NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 459 Cytoplasmic (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(234) soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1) 281 BRCA - Breast invasive adenocarcinoma(143;0.211) AATTTGGACCGTCGACCATAT 0.433 NA T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) 14 33 0 0 0.001855 0 0 MFGE8 4240 broad.mit.edu 37 15 89450563 89450563 + Missense_Mutation SNP A A G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr15:89450563A>G uc002bng.3 - 3 363 c.250T>C c.(250-252)TCA>CCA p.S84P MFGE8_uc002bnf.3_5'UTR|MFGE8_uc002bnh.3_Missense_Mutation_p.S84P|MFGE8_uc010bnn.2_Missense_Mutation_p.S76P|MFGE8_uc010upq.1_Missense_Mutation_p.S40P|MFGE8_uc010upr.1_Missense_Mutation_p.S84P|MFGE8_uc010bno.2_Missense_Mutation_p.S40P NM_005928 NP_005919 Q08431 MFGM_HUMAN milk fat globule-EGF factor 8 protein isoform a 84 F5/8 type C 1. angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization ovary(1) 1 Lung NSC(78;0.0392)|all_lung(78;0.077) GCGATCTGTGAGTTGGCAATG 0.632 NA 5 31 0 0 0.001168 0 0 ABHD2 11057 broad.mit.edu 37 15 89698682 89698682 + Missense_Mutation SNP A A G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr15:89698682A>G uc002bnj.2 + 10 1372 c.455A>G c.(454-456)AAA>AGA p.K152R ABHD2_uc002bnk.2_Missense_Mutation_p.K152R NM_007011 NP_008942 P08910 ABHD2_HUMAN alpha/beta hydrolase domain containing protein 152 integral to membrane carboxylesterase activity ovary(1)|lung(1) 2 Lung NSC(78;0.0472)|all_lung(78;0.089) TACGCCCAGAAAAATGGCTAT 0.507 Colon(11;252 417 24570 33239 41878) NA 18 113 0 0 0.006122 0 0 LRRK1 79705 broad.mit.edu 37 15 101464888 101464888 + Silent SNP G G C TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr15:101464888G>C uc002bwr.2 + 2 370 c.51G>C c.(49-51)CCG>CCC p.P17P LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bwq.1_Silent_p.P17P NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 17 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) GTGTGGGGCCGGAGGAGTCAG 0.592 NA 12 29 0 0 0.00245 0 0 ERCC4 2072 broad.mit.edu 37 16 14029250 14029250 + Missense_Mutation SNP G G C TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr16:14029250G>C uc002dce.2 + 8 1470 c.1461G>C c.(1459-1461)AAG>AAC p.K487N ERCC4_uc010uyz.1_Missense_Mutation_p.K37N NM_005236 NP_005227 Q92889 XPF_HUMAN excision repair cross-complementing rodent 487 Nuclear localization signal (Potential). double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity lung(4)|ovary(3)|skin(2)|pancreas(1) 10 CCCTCAAAAAGAAAAAACGGA 0.408 NA Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 3 46 0 0 0.000248 0 0 XYLT1 64131 broad.mit.edu 37 16 17228489 17228489 + Missense_Mutation SNP C C G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr16:17228489C>G uc002dfa.2 - 9 1953 c.1868G>C c.(1867-1869)GGT>GCT p.G623A NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN xylosyltransferase I 623 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity ovary(4) 4 GCCCGGGGTACCTGCAGGGTA 0.572 NA 46 120 0 0 0.00361 0 0 DNAH3 55567 broad.mit.edu 37 16 20996905 20996905 + Missense_Mutation SNP C C T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr16:20996905C>T uc010vbe.1 - 48 7159 c.7159G>A c.(7159-7161)GTG>ATG p.V2387M DNAH3_uc010vbd.1_5'Flank NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2387 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) TCCATGACCACAGTCAGCTGT 0.448 NA 8 142 0 0 0.00308 0 0 OTOA 146183 broad.mit.edu 37 16 21698947 21698947 + Missense_Mutation SNP C C G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr16:21698947C>G uc002djh.2 + 7 614 c.613C>G c.(613-615)CGC>GGC p.R205G uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.R126G NM_144672 NP_653273 Q7RTW8 OTOAN_HUMAN otoancorin isoform 1 205 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(48;0.0414) TCGGGACCTGCGCGAGGATGC 0.428 NA 7 17 0 0 0.001984 0 0 IL21R 50615 broad.mit.edu 37 16 27459937 27459937 + Missense_Mutation SNP A A G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr16:27459937A>G uc002doq.1 + 9 1183 c.950A>G c.(949-951)TAC>TGC p.Y317C IL21R_uc002dor.1_Missense_Mutation_p.Y317C|IL21R_uc002dos.1_Missense_Mutation_p.Y317C|uc002dot.2_RNA NM_181078 NP_851564 Q9HBE5 IL21R_HUMAN interleukin 21 receptor precursor 317 Cytoplasmic (Potential). natural killer cell activation integral to membrane interleukin-21 receptor activity ovary(2)|lung(1)|breast(1) 4 CTGGAGGTGTACAGCTGCCAC 0.632 NA T BCL6 NHL 8 49 0 0 0.00308 0 0 NUPR1 26471 broad.mit.edu 37 16 28550162 28550162 + Missense_Mutation SNP T T G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr16:28550162T>G uc002dqe.1 - 1 334 c.67A>C c.(67-69)AGC>CGC p.S23R uc010vct.1_Intron|NUPR1_uc002dqd.1_Missense_Mutation_p.S23R NM_012385 NP_036517 O60356 NUPR1_HUMAN p8 protein isoform b 23 cell growth|induction of apoptosis nucleus 0 TCATCCAGGCTGGAGTCCTCG 0.627 NA 18 56 0 0 0.006122 0 0 KCTD13 253980 broad.mit.edu 37 16 29934554 29934554 + Missense_Mutation SNP T T G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr16:29934554T>G uc002duv.2 - 2 562 c.371A>C c.(370-372)TAC>TCC p.Y124S uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|KCTD13_uc010vee.1_RNA NM_178863 NP_849194 Q8WZ19 BACD1_HUMAN potassium channel tetramerisation domain 124 cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex GTP-Rho binding|voltage-gated potassium channel activity 0 CTGCACCAGGTAGTAGCGTGC 0.607 NA 9 31 0 0 0.000673 0 0 FAM57B 83723 broad.mit.edu 37 16 30041831 30041831 + Silent SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr16:30041831C>A uc002dvt.2 - 1 356 c.18G>T c.(16-18)GTG>GTT p.V6V uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|FAM57B_uc002dvu.2_5'Flank NM_031478 NP_113666 Q71RH2 FA57B_HUMAN hypothetical protein LOC83723 6 endoplasmic reticulum|integral to membrane 0 CCCCCCCGGCCACCATCGGGG 0.672 NA 14 22 7.93312e-07 1.09454e-06 0.00245 1 0 PRR14 78994 broad.mit.edu 37 16 30667570 30667570 + Missense_Mutation SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr16:30667570G>A uc002dyy.2 + 12 1954 c.1696G>A c.(1696-1698)GAG>AAG p.E566K PRR14_uc002dyz.2_Missense_Mutation_p.E411K|PRR14_uc002dza.2_Missense_Mutation_p.E566K NM_024031 NP_076936 Q9BWN1 PRR14_HUMAN proline rich 14 566 0 Colorectal(24;0.103) GCGGCTGGAGGAGCTAGATGC 0.642 NA 6 72 0 0 0.001168 0 0 PRSS36 146547 broad.mit.edu 37 16 31157117 31157117 + Missense_Mutation SNP G G C TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr16:31157117G>C uc002ebd.2 - 6 772 c.713C>G c.(712-714)ACC>AGC p.T238S PRSS36_uc010vff.1_Missense_Mutation_p.T13S|PRSS36_uc010vfg.1_Missense_Mutation_p.T238S|PRSS36_uc010vfh.1_Missense_Mutation_p.T238S NM_173502 NP_775773 Q5K4E3 POLS2_HUMAN protease, serine, 36 precursor 238 Peptidase S1 1. proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity ovary(1) 1 CACCTGGCAGGTGTCCCTGCG 0.577 NA 33 102 0 0 0.004289 0 0 BRD7 29117 broad.mit.edu 37 16 50388360 50388360 + Missense_Mutation SNP T T C TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr16:50388360T>C uc002egf.1 - 5 489 c.422A>G c.(421-423)AAT>AGT p.N141S BRD7_uc002ege.1_Missense_Mutation_p.N141S NM_013263 NP_037395 Q9NPI1 BRD7_HUMAN bromodomain containing 7 141 cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleus histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding 0 all_cancers(37;0.0127) CATCAGTTGATTCAAAGCTTC 0.328 NA 31 328 0 0 0.001512 0 0 BCAR1 9564 broad.mit.edu 37 16 75269174 75269174 + Silent SNP A A T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr16:75269174A>T uc002fdv.2 - 5 1746 c.1623T>A c.(1621-1623)CTT>CTA p.L541L BCAR1_uc002fdt.2_5'UTR|BCAR1_uc002fdu.2_Silent_p.L331L|BCAR1_uc010cgu.2_Silent_p.L530L|BCAR1_uc010vna.1_Silent_p.L539L|BCAR1_uc010vnb.1_Silent_p.L587L|BCAR1_uc002fdw.2_Silent_p.L541L|BCAR1_uc010vnc.1_Silent_p.L393L|BCAR1_uc010vnd.1_Silent_p.L559L|BCAR1_uc002fdx.2_Silent_p.L559L NM_014567 NP_055382 P56945 BCAR1_HUMAN breast cancer anti-estrogen resistance 1 541 Ser-rich. actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway cytosol|focal adhesion|membrane fraction|ruffle protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity central_nervous_system(5)|breast(2)|prostate(1) 8 BRCA - Breast invasive adenocarcinoma(221;0.169) GCTGCCGGCTAAGCTTGGCAT 0.662 NA 14 33 0 0 0.003163 0 0 KLHDC4 54758 broad.mit.edu 37 16 87743082 87743082 + Silent SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr16:87743082C>A uc002fki.2 - 10 1282 c.1236G>T c.(1234-1236)CGG>CGT p.R412R KLHDC4_uc002fkh.1_RNA|KLHDC4_uc010cht.1_Intron|KLHDC4_uc002fkj.2_Silent_p.R381R|KLHDC4_uc002fkk.2_Silent_p.R231R|KLHDC4_uc002fkl.2_Silent_p.R355R|KLHDC4_uc010chu.1_Silent_p.R231R NM_017566 NP_060036 Q8TBB5 KLDC4_HUMAN kelch domain containing 4 412 pancreas(2) 2 BRCA - Breast invasive adenocarcinoma(80;0.0283) CGTCCTCAGACCGGGGCTGCC 0.682 NA 7 15 0.000274275 0.000348147 0.004482 1 0 MYOCD 93649 broad.mit.edu 37 17 12666716 12666716 + Missense_Mutation SNP C C G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr17:12666716C>G uc002gnn.2 + 13 2871 c.2572C>G c.(2572-2574)CCA>GCA p.P858A MYOCD_uc002gno.2_Missense_Mutation_p.P906A|MYOCD_uc002gnq.2_Missense_Mutation_p.P582A NM_153604 NP_705832 Q8IZQ8 MYCD_HUMAN myocardin isoform 2 858 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding central_nervous_system(2)|skin(2)|ovary(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) TGAGATCTTGCCAGGCCCCCT 0.498 NA 6 61 0 0 0.001168 0 0 KRT35 3886 broad.mit.edu 37 17 39633867 39633867 + Missense_Mutation SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr17:39633867G>A uc002hws.2 - 6 1166 c.1123C>T c.(1123-1125)CGG>TGG p.R375W NM_002280 NP_002271 Q92764 KRT35_HUMAN keratin 35 375 Rod.|Coil 2. anatomical structure morphogenesis intermediate filament protein binding|structural molecule activity ovary(1)|skin(1) 2 Breast(137;0.000286) TGGTTCTGCCGCTCCAGGTCA 0.652 NA 7 97 0 0 0.001984 0 0 NFE2L1 4779 broad.mit.edu 37 17 46128597 46128597 + Silent SNP C C T rs141933946 byFrequency TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr17:46128597C>T uc002imz.3 + 2 768 c.117C>T c.(115-117)CTC>CTT p.L39L NFE2L1_uc002ina.3_Silent_p.L39L|NFE2L1_uc002inb.3_Silent_p.L39L|NFE2L1_uc002inc.1_Silent_p.L39L NM_003204 NP_003195 Q14494 NF2L1_HUMAN nuclear factor erythroid 2-like 1 39 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 TTCCCCCACTCCGGGAGATCA 0.522 NA 38 109 0 0 0.00623 0 0 SPAG9 9043 broad.mit.edu 37 17 49079164 49079164 + Missense_Mutation SNP C C G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr17:49079164C>G uc002itc.2 - 13 1728 c.1519G>C c.(1519-1521)GAA>CAA p.E507Q SPAG9_uc002itb.2_Missense_Mutation_p.E493Q|SPAG9_uc002itd.2_Missense_Mutation_p.E493Q|SPAG9_uc002itf.2_Missense_Mutation_p.E328Q|SPAG9_uc002ita.2_Missense_Mutation_p.E350Q|SPAG9_uc002ite.2_Missense_Mutation_p.E337Q NM_001130528 NP_001124000 O60271 JIP4_HUMAN sperm associated antigen 9 isoform 1 507 Potential. positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm lung(4)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) CGGGCCATTTCTACTCTAGTA 0.413 NA 12 89 0 0 0.001855 0 0 INTS2 57508 broad.mit.edu 37 17 59967149 59967149 + Missense_Mutation SNP A A G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr17:59967149A>G uc002izn.2 - 15 2082 c.2006T>C c.(2005-2007)TTA>TCA p.L669S INTS2_uc002izm.2_Missense_Mutation_p.L661S NM_020748 NP_065799 Q9H0H0 INT2_HUMAN integrator complex subunit 2 669 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding ovary(1)|lung(1)|pancreas(1) 3 CAACTTACCTAAAGTCTTCGT 0.368 NA 7 11 0 0 0.001984 0 0 RHBDF2 79651 broad.mit.edu 37 17 74473792 74473792 + Nonsense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr17:74473792C>A uc002jrq.1 - 7 1128 c.835G>T c.(835-837)GAG>TAG p.E279* RHBDF2_uc002jrp.1_Nonsense_Mutation_p.E250*|RHBDF2_uc002jrr.1_Nonsense_Mutation_p.E131*|RHBDF2_uc010wtf.1_Nonsense_Mutation_p.E250*|RHBDF2_uc002jrs.1_Nonsense_Mutation_p.E274* NM_024599 NP_078875 Q6PJF5 RHDF2_HUMAN rhomboid, veinlet-like 6 isoform 1 279 Cytoplasmic (Potential). negative regulation of protein secretion|protein transport|proteolysis endoplasmic reticulum membrane|integral to membrane growth factor binding|serine-type endopeptidase activity 0 ACATCCTCCTCCAGGAAGCTC 0.637 NA 49 76 9.45407e-15 1.60147e-14 0.00361 1 0 ENPP7 339221 broad.mit.edu 37 17 77709206 77709206 + Missense_Mutation SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr17:77709206G>A uc002jxa.2 + 3 784 c.764G>A c.(763-765)CGG>CAG p.R255Q NM_178543 NP_848638 Q6UWV6 ENPP7_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 255 negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity central_nervous_system(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GTGGACAAACGGGCTGGCGAC 0.597 NA 24 57 0 0 0.001512 0 0 AATK 9625 broad.mit.edu 37 17 79094822 79094822 + Missense_Mutation SNP C C G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr17:79094822C>G uc010dia.2 - 11 2994 c.2914G>C c.(2914-2916)GGC>CGC p.G972R AATK_uc010dhz.2_Intron NM_001080395 NP_001073864 Q6ZMQ8 LMTK1_HUMAN apoptosis-associated tyrosine kinase 972 integral to membrane|mitochondrion|perinuclear region of cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1) 9 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) GGCCCGGGGCCCTCACCCTCT 0.622 NA 5 16 0 0 0.001168 0 0 NARF 26502 broad.mit.edu 37 17 80436742 80436742 + Missense_Mutation SNP C C T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr17:80436742C>T uc002kfg.3 + 6 727 c.587C>T c.(586-588)TCC>TTC p.S196F NARF_uc002kff.3_Missense_Mutation_p.S137F|NARF_uc010wvo.1_Missense_Mutation_p.S151F|NARF_uc010wvp.1_Missense_Mutation_p.S68F|NARF_uc010dit.2_Missense_Mutation_p.S196F|NARF_uc002kfj.3_Missense_Mutation_p.S148F|NARF_uc002kfi.3_RNA|NARF_uc002kfh.3_Missense_Mutation_p.S196F|NARF_uc002kfk.2_RNA NM_012336 NP_036468 Q9UHQ1 NARF_HUMAN nuclear prelamin A recognition factor isoform a 196 lamin filament lamin binding skin(1) 1 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) ACCGCCAAGTCCCCCCAGCAG 0.627 NA 14 33 0 0 0.001855 0 0 AFG3L2 10939 broad.mit.edu 37 18 12356752 12356752 + Missense_Mutation SNP A A G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr18:12356752A>G uc002kqz.1 - 9 1218 c.1105T>C c.(1105-1107)TTC>CTC p.F369L NM_006796 NP_006787 Q9Y4W6 AFG32_HUMAN AFG3 ATPase family gene 3-like 2 369 cell death|protein catabolic process|proteolysis integral to membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding 0 Adenosine triphosphate(DB00171) ACGGTGATGAAGGGGACATTG 0.512 NA 3 67 0 0 0.004672 0 0 CEP192 55125 broad.mit.edu 37 18 13087217 13087217 + Missense_Mutation SNP G G C TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr18:13087217G>C uc010xac.1 + 31 5898 c.5818G>C c.(5818-5820)GAT>CAT p.D1940H CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.D1465H|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Missense_Mutation_p.D362H|CEP192_uc002krw.2_Missense_Mutation_p.D89H|CEP192_uc002krx.2_5'UTR|CEP192_uc002kry.2_5'Flank NM_032142 NP_115518 E9PF99 E9PF99_HUMAN centrosomal protein 192kDa 1940 ovary(4)|pancreas(1) 5 AGTTTTGCTGGATCCTAAAGT 0.343 NA 3 72 0 0 0.004672 0 0 MIB1 57534 broad.mit.edu 37 18 19345792 19345792 + Nonsense_Mutation SNP C C T rs151095403 TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr18:19345792C>T uc002ktq.2 + 2 289 c.289C>T c.(289-291)CGA>TGA p.R97* MIB1_uc002ktp.2_5'UTR NM_020774 NP_065825 Q86YT6 MIB1_HUMAN mindbomb homolog 1 97 ZZ-type. Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding ovary(4) 4 STAD - Stomach adenocarcinoma(5;0.212) CATTGGCATTCGATGGAAGTG 0.393 NA 12 61 0 0 0.001368 0 0 CTAGE1 64693 broad.mit.edu 37 18 19997690 19997690 + Silent SNP A A G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr18:19997690A>G uc002ktv.1 - 1 189 c.85T>C c.(85-87)TTG>CTG p.L29L NM_172241 NP_758441 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 29 Helical; (Potential). integral to membrane ovary(1) 1 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) CTTCTCCACAAGAAGAGAACA 0.408 NA 13 38 0 0 0.001368 0 0 ASXL3 80816 broad.mit.edu 37 18 31324042 31324042 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr18:31324042C>A uc010dmg.1 + 12 4285 c.4230C>A c.(4228-4230)CAC>CAA p.H1410Q ASXL3_uc002kxq.2_Missense_Mutation_p.H1117Q NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1410 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 TGGTTGCACACCCGACCGTCG 0.498 NA OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 48 158 5.7616e-29 1.12398e-28 0.00361 1 0 CELF4 56853 broad.mit.edu 37 18 34850743 34850743 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr18:34850743G>T uc002lae.2 - 8 1483 c.1087C>A c.(1087-1089)CAC>AAC p.H363N CELF4_uc010dnd.1_Missense_Mutation_p.H361N|CELF4_uc002lag.2_Missense_Mutation_p.H353N|CELF4_uc002laf.2_Missense_Mutation_p.H358N|CELF4_uc002lai.2_Missense_Mutation_p.H348N|CELF4_uc002lah.1_Missense_Mutation_p.H88N NM_020180 NP_064565 Q9BZC1 CELF4_HUMAN bruno-like 4, RNA binding protein isoform 1 363 embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding ovary(2) 2 GGGTAGGGGTGGATGCCATTG 0.557 NA 22 72 1.9806e-07 2.83113e-07 0.002299 1 0 GPR108 56927 broad.mit.edu 37 19 6731116 6731116 + Missense_Mutation SNP C C T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr19:6731116C>T uc002mfp.2 - 17 1487 c.1441G>A c.(1441-1443)GTG>ATG p.V481M GPR108_uc010duv.2_Missense_Mutation_p.V32M|GPR108_uc002mfn.2_Missense_Mutation_p.V136M|GPR108_uc002mfo.3_Missense_Mutation_p.V239M|GPR108_uc010duw.2_RNA NM_001080452 NP_001073921 Q9NPR9 GP108_HUMAN G protein-coupled receptor 108 isoform 1 481 Helical; Name=7; (Potential). integral to membrane 0 GAGCCCTCCACCAAGAGCTGG 0.701 NA 6 39 0 0 0.001984 0 0 FCER2 2208 broad.mit.edu 37 19 7754258 7754258 + Missense_Mutation SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr19:7754258G>A uc002mhn.2 - 11 971 c.787C>T c.(787-789)CGG>TGG p.R263W FCER2_uc010xjs.1_Missense_Mutation_p.R185W|FCER2_uc010xjt.1_Missense_Mutation_p.R185W|FCER2_uc002mhm.2_Missense_Mutation_p.R263W NM_002002 NP_001993 P06734 FCER2_HUMAN Fc fragment of IgE, low affinity II, receptor 263 C-type lectin.|Extracellular (Potential). positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity extracellular region|integral to plasma membrane IgE binding|integrin binding|receptor activity|sugar binding 0 CCGGAGCCCCGCATCATCACG 0.687 NA 5 14 0 0 0.000602 0 0 HNRNPM 4670 broad.mit.edu 37 19 8550609 8550609 + Missense_Mutation SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr19:8550609G>A uc010dwe.2 + 14 1377 c.1297G>A c.(1297-1299)GAG>AAG p.E433K HNRNPM_uc010xke.1_Missense_Mutation_p.E379K|HNRNPM_uc010dwd.2_Missense_Mutation_p.E394K|HNRNPM_uc002mka.2_Missense_Mutation_p.E298K|HNRNPM_uc002mkb.1_5'Flank NM_005968 NP_005959 P52272 HNRPM_HUMAN heterogeneous nuclear ribonucleoprotein M 433 5.|27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV]. 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 CGTGGGCTCCGAGATCGAGCG 0.706 NA 12 131 0 0 0.000978 0 0 MUC16 94025 broad.mit.edu 37 19 9048993 9048993 + Missense_Mutation SNP G G C TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr19:9048993G>C uc002mkp.2 - 5 32842 c.32638C>G c.(32638-32640)CCT>GCT p.P10880A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 10882 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 GTGACCAAAGGGGTCACTACT 0.493 NA 27 114 0 0 0.004656 0 0 OR7G2 390882 broad.mit.edu 37 19 9213076 9213076 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr19:9213076G>T uc010xkk.1 - 1 907 c.907C>A c.(907-909)CCT>ACT p.P303T NM_001005193 NP_001005193 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, 282 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 ACCATTTGAGGGAACACAGAA 0.458 Esophageal Squamous(67;143 1448 28637 40648) NA 24 58 7.88262e-20 1.42126e-19 0.00333 1 0 KANK2 25959 broad.mit.edu 37 19 11303645 11303645 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr19:11303645C>A uc010dxv.2 - 6 1669 c.1111G>T c.(1111-1113)GGT>TGT p.G371C KANK2_uc002mqm.2_Missense_Mutation_p.G371C|KANK2_uc002mqo.3_Missense_Mutation_p.G371C|KANK2_uc002mqp.1_Missense_Mutation_p.G180C|KANK2_uc002mqq.2_Missense_Mutation_p.G371C NM_015493 NP_056308 Q63ZY3 KANK2_HUMAN ankyrin repeat domain 25 isoform 1 371 0 TCAGGCCTACCAGGCATTGCC 0.667 NA 17 42 5.3912e-06 7.26973e-06 0.006122 1 0 ZNF442 79973 broad.mit.edu 37 19 12461717 12461717 + Nonsense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr19:12461717C>A uc002mtr.1 - 6 1293 c.682G>T c.(682-684)GAA>TAA p.E228* ZNF442_uc010xmk.1_Nonsense_Mutation_p.E159* NM_030824 NP_110451 Q9H7R0 ZN442_HUMAN zinc finger protein 442 228 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|breast(1)|kidney(1) 4 TGAGTTCTTTCATGCATACGA 0.393 NA 37 117 2.20474e-14 3.69526e-14 0.003755 1 0 DNASE2 1777 broad.mit.edu 37 19 12986926 12986926 + Missense_Mutation SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr19:12986926G>A uc002mvn.1 - 6 1107 c.961C>T c.(961-963)CGG>TGG p.R321W DNASE2_uc010xmr.1_Missense_Mutation_p.R266W NM_001375 NP_001366 O00115 DNS2A_HUMAN deoxyribonuclease II, lysosomal precursor 321 apoptosis lysosome deoxyribonuclease II activity|DNA binding|protein binding 0 CCCCCACCCCGTTGCTCCTCT 0.607 NA Direct_reversal_of_damage 13 71 0 0 0.001368 0 0 ATP13A1 57130 broad.mit.edu 37 19 19760641 19760641 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr19:19760641C>A uc002nnh.3 - 18 2472 c.2444G>T c.(2443-2445)GGC>GTC p.G815V ATP13A1_uc002nne.2_5'UTR|ATP13A1_uc002nnf.3_Missense_Mutation_p.G183V|ATP13A1_uc002nng.2_Missense_Mutation_p.G697V NM_020410 NP_065143 Q9HD20 AT131_HUMAN ATPase type 13A1 815 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(3)|large_intestine(2)|central_nervous_system(1) 6 GTGGGCCAAGCCGTCGCCTGT 0.677 Esophageal Squamous(142;920 1789 9047 14684 24777) NA 5 41 0.00116845 0.00145979 0.001168 1 0 C19orf2 8725 broad.mit.edu 37 19 30498451 30498451 + Missense_Mutation SNP G G C TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr19:30498451G>C uc002nsr.2 + 7 622 c.592G>C c.(592-594)GAT>CAT p.D198H C19orf2_uc002nsq.2_Missense_Mutation_p.D180H|C19orf2_uc002nss.2_Missense_Mutation_p.D158H|C19orf2_uc002nst.2_Missense_Mutation_p.D122H NM_003796 NP_003787 O94763 RMP_HUMAN RPB5-mediating protein isoform a 198 protein folding|regulation of transcription from RNA polymerase II promoter|response to virus DNA-directed RNA polymerase II, core complex|prefoldin complex transcription corepressor activity|unfolded protein binding ovary(1)|kidney(1) 2 Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195) Hepatocellular(1079;0.137)|Renal(1328;0.228) STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115) STAD - Stomach adenocarcinoma(1328;0.18) TATTGCAAATGATGTGAAATC 0.383 Melanoma(75;661 1306 1472 28422 37948) NA 6 36 0 0 0.001168 0 0 HKR1 284459 broad.mit.edu 37 19 37854368 37854368 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr19:37854368G>T uc002ogb.2 + 6 1940 c.1671G>T c.(1669-1671)GAG>GAT p.E557D HKR1_uc002ofx.2_Missense_Mutation_p.E273D|HKR1_uc002ofy.2_Missense_Mutation_p.E273D|HKR1_uc002oga.2_Missense_Mutation_p.E539D|HKR1_uc010xto.1_Missense_Mutation_p.E539D|HKR1_uc002ogc.2_Missense_Mutation_p.E538D|HKR1_uc010xtp.1_Missense_Mutation_p.E496D|HKR1_uc002ogd.2_Missense_Mutation_p.E496D NM_181786 NP_861451 P10072 HKR1_HUMAN GLI-Kruppel family member HKR1 557 C2H2-type 10. multicellular organismal development|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) TGTGCAGGGAGTGTGGCAGAA 0.502 NA 21 34 1.50039e-11 2.37271e-11 0.001882 1 0 FCGBP 8857 broad.mit.edu 37 19 40368642 40368642 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr19:40368642C>A uc002omp.3 - 28 12714 c.12706G>T c.(12706-12708)GCT>TCT p.A4236S NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 4236 VWFD 10. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) ATGGAGGGAGCCAGTGTGCCA 0.642 NA 15 203 1.50039e-11 2.37271e-11 0.001882 1 0 HNRNPUL1 11100 broad.mit.edu 37 19 41782090 41782090 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr19:41782090G>T uc002oqb.3 + 5 962 c.673G>T c.(673-675)GCC>TCC p.A225S CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Missense_Mutation_p.A125S|HNRNPUL1_uc002oqa.3_Missense_Mutation_p.A125S|HNRNPUL1_uc010ehm.2_Missense_Mutation_p.A225S|HNRNPUL1_uc002oqc.3_Missense_Mutation_p.A182S|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Missense_Mutation_p.A125S|HNRNPUL1_uc010ehn.2_Missense_Mutation_p.A125S|HNRNPUL1_uc010eho.2_Missense_Mutation_p.A125S|HNRNPUL1_uc010xvy.1_Missense_Mutation_p.A125S|HNRNPUL1_uc010ehp.2_Missense_Mutation_p.A81S|HNRNPUL1_uc010ehl.1_Missense_Mutation_p.A125S NM_007040 NP_008971 Q9BUJ2 HNRL1_HUMAN heterogeneous nuclear ribonucleoprotein U-like 1 225 B30.2/SPRY.|Necessary for interaction with TP53. nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent heterogeneous nuclear ribonucleoprotein complex|nucleoplasm enzyme binding|RNA binding central_nervous_system(1)|skin(1) 2 CTTCAAGGTGGCCCGAGATCG 0.443 NA 38 95 2.87052e-16 4.93273e-16 0.005524 1 0 MEGF8 1954 broad.mit.edu 37 19 42867243 42867243 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr19:42867243G>T uc002otl.3 + 34 6536 c.5901G>T c.(5899-5901)TGG>TGT p.W1967C MEGF8_uc002otm.3_Missense_Mutation_p.W1575C NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 2034 Extracellular (Potential). integral to membrane calcium ion binding|structural molecule activity ovary(1) 1 Prostate(69;0.00682) CCTATGACTGGACGTGCTTCA 0.532 NA 8 16 5.4927e-09 8.30008e-09 0.004482 1 0 PSG4 5672 broad.mit.edu 37 19 43698709 43698709 + Silent SNP G G C rs146368793 TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr19:43698709G>C uc002ovy.2 - 5 1128 c.1026C>G c.(1024-1026)ACC>ACG p.T342T PSG6_uc010xwk.1_Intron|PSG4_uc002owa.2_Intron|PSG4_uc002owb.2_Silent_p.T249T|PSG4_uc002ovz.2_Silent_p.T249T NM_002780 NP_002771 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 isoform 342 Ig-like C2-type 3. defense response|female pregnancy extracellular region ovary(1) 1 Prostate(69;0.00682) AACGGTAATAGGTGAATGAAG 0.488 NA 79 209 0 0 0.00361 0 0 ZNF235 9310 broad.mit.edu 37 19 44792687 44792687 + Missense_Mutation SNP T T C TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr19:44792687T>C uc002oza.3 - 5 1004 c.901A>G c.(901-903)AGT>GGT p.S301G ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Missense_Mutation_p.S297G|ZNF235_uc010xwx.1_Missense_Mutation_p.S215G NM_004234 NP_004225 Q14590 ZN235_HUMAN zinc finger protein 93 homolog 301 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1) 3 Prostate(69;0.0352)|all_neural(266;0.116) GAGCTATAACTGGTGTCCTTC 0.418 NA 6 78 0 0 0.001984 0 0 SYMPK 8189 broad.mit.edu 37 19 46326729 46326729 + Silent SNP G G C TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr19:46326729G>C uc002pdn.2 - 20 2846 c.2601C>G c.(2599-2601)GTC>GTG p.V867V SYMPK_uc002pdo.1_Silent_p.V867V|SYMPK_uc002pdp.1_Silent_p.V867V NM_004819 NP_004810 Q92797 SYMPK_HUMAN symplekin 867 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding ovary(1) 1 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) GGGAGGGTGGGACTGCATGGA 0.637 NA 3 31 0 0 0.004672 0 0 FAM71E1 112703 broad.mit.edu 37 19 50979147 50979147 + Silent SNP C C T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr19:50979147C>T uc002psh.2 - 2 661 c.303G>A c.(301-303)CAG>CAA p.Q101Q FAM71E1_uc002psg.2_Silent_p.Q101Q|FAM71E1_uc002psi.2_RNA|C19orf63_uc002psj.2_5'Flank|C19orf63_uc002psk.2_5'Flank|C19orf63_uc002psl.2_5'Flank NM_138411 NP_612420 Q6IPT2 F71E1_HUMAN hypothetical protein LOC112703 101 breast(1) 1 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026) ATTCGCCGCTCTGGAGGTAGC 0.627 NA 11 9 0 0 0.001855 0 0 KLK2 3817 broad.mit.edu 37 19 51379887 51379887 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr19:51379887G>T uc002ptv.2 + 3 407 c.366G>T c.(364-366)ATG>ATT p.M122I KLK2_uc010eog.2_Missense_Mutation_p.M20I|KLK2_uc010yck.1_Missense_Mutation_p.M122I|KLK2_uc002ptu.2_Missense_Mutation_p.M122I|KLK2_uc002ptt.2_RNA|KLK2_uc010ycl.1_Missense_Mutation_p.M105I|KLK2_uc010ycm.1_Missense_Mutation_p.M20I|KLK2_uc010eoh.2_Missense_Mutation_p.M20I NM_005551 NP_005542 P20151 KLK2_HUMAN kallikrein 2, prostatic isoform 1 122 Peptidase S1. proteolysis serine-type endopeptidase activity ovary(1)|skin(1) 2 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871) ATGACCTCATGCTGCTCCGCC 0.587 NA T ETV4 prostate 24 34 1.64293e-13 2.69668e-13 0.00333 1 0 C19orf75 284369 broad.mit.edu 37 19 51768813 51768813 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr19:51768813C>A uc002pwb.1 + 3 595 c.214C>A c.(214-216)CTA>ATA p.L72I C19orf75_uc010eov.1_Intron|C19orf75_uc010ycw.1_Intron NM_173635 NP_775906 Q8N7X8 CS075_HUMAN hypothetical protein LOC284369 72 integral to membrane ovary(1)|pancreas(1) 2 CACCATCAGCCTAACTGAAGA 0.557 NA 13 70 5.50884e-06 7.36575e-06 0.001368 1 0 NLRP2 55655 broad.mit.edu 37 19 55494060 55494060 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr19:55494060C>A uc002qij.2 + 6 1080 c.994C>A c.(994-996)CTG>ATG p.L332M NLRP2_uc010yfp.1_Missense_Mutation_p.L309M|NLRP2_uc010esn.2_Missense_Mutation_p.L308M|NLRP2_uc010eso.2_Missense_Mutation_p.L329M|NLRP2_uc010esp.2_Missense_Mutation_p.L310M NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 332 NACHT. 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) CAAGGCCGCCCTGCTGGTCAC 0.652 NA 6 27 0.00116845 0.00145979 0.001168 1 0 ZNF530 348327 broad.mit.edu 37 19 58117956 58117956 + Missense_Mutation SNP G G A rs35182752 TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr19:58117956G>A uc002qpk.2 + 3 1283 c.1063G>A c.(1063-1065)GAA>AAA p.E355K ZNF547_uc002qpm.3_Intron|ZNF530_uc002qpl.2_RNA NM_020880 NP_065931 Q6P9A1 ZN530_HUMAN zinc finger protein 530 355 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TGAGTGCAGTGAATGTGGAAA 0.463 NA 6 116 0 0 0.001984 0 0 ZNF587 84914 broad.mit.edu 37 19 58262174 58262174 + Translation_Start_Site SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr19:58262174G>A uc002qqb.2 + 2 318 c.-455G>A c.(-457--453)ATGTG>ATATG ZNF776_uc002qpx.2_Missense_Mutation_p.V19M|ZNF776_uc002qqa.2_Missense_Mutation_p.V19M NM_032828 NP_116217 Q96SQ5 ZN587_HUMAN zinc finger protein 587 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264) CTTTGAAGATGTGGCTGTGAA 0.488 Pancreas(59;641 1233 1885 20055 50741) NA 10 139 0 0 0.001368 0 0 ZNF586 54807 broad.mit.edu 37 19 58287980 58287980 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr19:58287980C>A uc002qqd.2 + 2 292 c.106C>A c.(106-108)CAG>AAG p.Q36K ZNF587_uc002qqb.2_Intron|ZNF586_uc002qqe.2_Intron|ZNF586_uc010euh.2_5'UTR|ZNF586_uc002qqf.1_Intron NM_017652 NP_060122 Q9NXT0 ZN586_HUMAN zinc finger protein 586 36 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TAATGAGGCTCAGAGATGCCT 0.468 NA 47 220 4.64027e-19 8.30363e-19 0.00361 1 0 ZNF418 147686 broad.mit.edu 37 19 58439157 58439157 + Missense_Mutation SNP T T A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr19:58439157T>A uc002qqs.1 - 4 684 c.392A>T c.(391-393)TAC>TTC p.Y131F ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Missense_Mutation_p.Y46F NM_133460 NP_597717 Q8TF45 ZN418_HUMAN zinc finger protein 418 131 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158) CTCTCCAAGGTACTGATTCTG 0.453 NA 17 163 0 0 0.00499 0 0 MYT1L 23040 broad.mit.edu 37 2 1893159 1893159 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr2:1893159G>T uc002qxe.2 - 16 3201 c.2374C>A c.(2374-2376)CCT>ACT p.P792T MYT1L_uc002qxd.2_Missense_Mutation_p.P790T|MYT1L_uc010ewl.1_RNA NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 792 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) GGCTCCAGAGGGGTCAGGATG 0.622 NA 25 74 1.64293e-13 2.69668e-13 0.00333 1 0 NBAS 51594 broad.mit.edu 37 2 15496520 15496520 + Silent SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr2:15496520G>T uc002rcc.1 - 33 3864 c.3838C>A c.(3838-3840)CGG>AGG p.R1280R NBAS_uc010exl.1_Silent_p.R352R|NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 1280 ovary(2)|liver(1)|skin(1) 4 ACCTGTCCCCGCCTTTCTTCT 0.453 NA 18 81 2.94398e-08 4.36553e-08 0.007413 1 0 MSH6 2956 broad.mit.edu 37 2 48033436 48033436 + Missense_Mutation SNP C C G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr2:48033436C>G uc002rwd.3 + 8 3892 c.3740C>G c.(3739-3741)ACT>AGT p.T1247S MSH6_uc010fbj.2_Missense_Mutation_p.T945S|MSH6_uc010yoi.1_Missense_Mutation_p.T1117S|MSH6_uc010yoj.1_Missense_Mutation_p.T945S NM_000179 NP_000170 P52701 MSH6_HUMAN mutS homolog 6 1247 determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1) 168 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TTATTTTCAACTCACTACCAT 0.353 NA Mis|N|F|S colorectal colorectal|endometrial|ovarian MMR Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 6 84 0 0 0.00308 0 0 WDR54 84058 broad.mit.edu 37 2 74650614 74650614 + Missense_Mutation SNP T T G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr2:74650614T>G uc002slb.2 + 5 422 c.362T>G c.(361-363)GTG>GGG p.V121G NM_032118 NP_115494 Q9H977 WDR54_HUMAN WD repeat domain 54 121 WD 1. 0 GTACAGGCTGTGTTTGCCCGG 0.587 NA 23 62 0 0 0.005443 0 0 LRRTM1 347730 broad.mit.edu 37 2 80529975 80529975 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr2:80529975C>A uc002sok.1 - 2 1240 c.970G>T c.(970-972)GCC>TCC p.A324S 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 1 324 LRRCT.|Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GAGGCTAGGGCACACACGTTG 0.642 NA HNSCC(69;0.2) 4 24 1.024e-07 1.49517e-07 0.000602 1 0 ACTR1B 10120 broad.mit.edu 37 2 98277062 98277062 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr2:98277062C>A uc002syb.2 - 3 369 c.161G>T c.(160-162)GGG>GTG p.G54V NM_005735 NP_005726 P42025 ACTY_HUMAN ARP1 actin-related protein 1 homolog B, 54 centrosome|dynactin complex ATP binding|protein binding skin(1) 1 GAAGAGGTCCCCCTCCAGGGC 0.607 NA 24 85 3.17567e-06 4.31891e-06 0.001512 1 0 ST6GAL2 84620 broad.mit.edu 37 2 107460276 107460276 + Missense_Mutation SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr2:107460276G>A uc002tdq.2 - 2 277 c.158C>T c.(157-159)CCG>CTG p.P53L ST6GAL2_uc002tdr.2_Missense_Mutation_p.P53L|ST6GAL2_uc002tds.3_Missense_Mutation_p.P53L NM_001142351 NP_001135823 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide 53 Lumenal (Potential). growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity pancreas(6)|ovary(4)|skin(1) 11 CCCCTGCACCGGCAGGAGCCT 0.682 NA 8 41 0 0 0.00308 0 0 SAP130 79595 broad.mit.edu 37 2 128712558 128712558 + Splice_Site SNP A A C TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr2:128712558A>C uc002tpp.2 - 15 2527 c.2395_splice c.e15+1 p.A799_splice SAP130_uc002tpn.2_Splice_Site_p.A559_splice|SAP130_uc002tpo.2_Splice_Site_p.A579_splice|SAP130_uc010fmd.2_Splice_Site_p.A834_splice NM_024545 NP_078821 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa isoform b histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity ovary(2)|skin(2) 4 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) GGACGGACTTACCAGAAACTG 0.488 NA 12 72 0 0 0.00245 0 0 LRP1B 53353 broad.mit.edu 37 2 142238044 142238044 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr2:142238044G>T uc002tvj.1 - 3 1236 c.264C>A c.(262-264)AAC>AAA p.N88K LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 88 Extracellular (Potential).|LDL-receptor class A 2. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GAACACATTTGTTGGTACCAA 0.433 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 5 56 1.23904e-05 1.63375e-05 0.000602 1 0 DLX2 1746 broad.mit.edu 37 2 172966194 172966194 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr2:172966194G>T uc002uhn.2 - 2 793 c.581C>A c.(580-582)ACT>AAT p.T194N DLX2_uc010zdx.1_Missense_Mutation_p.T194N NM_004405 NP_004396 Q07687 DLX2_HUMAN distal-less homeobox 2 194 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.216) CCCCACCTGAGTCTGGGTGAG 0.602 GBM(188;775 2993 11256 23072) NA 3 10 6.4e-05 8.36923e-05 0.004672 1 0 TTC30A 92104 broad.mit.edu 37 2 178483345 178483345 + Missense_Mutation SNP C C T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr2:178483345C>T uc002ulo.2 - 1 350 c.85G>A c.(85-87)GAG>AAG p.E29K NM_152275 NP_689488 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A 29 TPR 1. cell projection organization cilium binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) TGCACCGCCTCGGCGTAGCGG 0.677 NA 5 21 0 0 0.000602 0 0 DFNB59 494513 broad.mit.edu 37 2 179320856 179320856 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr2:179320856G>T uc002umi.3 + 4 883 c.527G>T c.(526-528)GGA>GTA p.G176V DFNB59_uc002umj.3_Missense_Mutation_p.G176V NM_001042702 NP_001036167 Q0ZLH3 PJVK_HUMAN deafness, autosomal recessive 59 176 sensory perception of sound 0 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) GTGCATGCTGGAATTCGAGGG 0.453 NA 12 26 1.08611e-07 1.5619e-07 0.000978 1 0 TTN 7273 broad.mit.edu 37 2 179592313 179592313 + Silent SNP T T A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr2:179592313T>A uc010zfg.1 - 65 16484 c.16260A>T c.(16258-16260)ACA>ACT p.T5420T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.T2081T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6347 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) TTTGCACACCTGTCACAAGCA 0.378 NA 17 227 0 0 0.007413 0 0 PMS1 5378 broad.mit.edu 37 2 190738322 190738322 + Missense_Mutation SNP A A T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr2:190738322A>T uc002urh.3 + 12 3103 c.2574A>T c.(2572-2574)TTA>TTT p.L858F PMS1_uc002urk.3_Missense_Mutation_p.L819F|PMS1_uc002uri.3_Missense_Mutation_p.L696F|PMS1_uc010zgc.1_Missense_Mutation_p.L682F|PMS1_uc010zgd.1_Missense_Mutation_p.L682F|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_3'UTR|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Missense_Mutation_p.L481F|PMS1_uc002urm.2_RNA NM_000534 NP_000525 P54277 PMS1_HUMAN postmeiotic segregation 1 isoform a 858 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) ATGCTATATTAAACAGAAATG 0.279 NA Mis|N colorectal|endometrial|ovarian Direct_reversal_of_damage|MMR 38 77 0 0 0.005524 0 0 PLCL1 5334 broad.mit.edu 37 2 198949108 198949108 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr2:198949108G>T uc010fsp.2 + 2 1158 c.867G>T c.(865-867)AAG>AAT p.K289N PLCL1_uc002uuv.3_Missense_Mutation_p.K210N 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; 289 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) AAATCCAGAAGAGCAAGGAAA 0.403 NA 8 129 5.4927e-09 8.30008e-09 0.004482 1 0 PLCL1 5334 broad.mit.edu 37 2 198950297 198950297 + Missense_Mutation SNP C C G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr2:198950297C>G uc010fsp.2 + 2 2347 c.2056C>G c.(2056-2058)CTT>GTT p.L686V PLCL1_uc002uuv.3_Missense_Mutation_p.L607V 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; 686 PI-PLC Y-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) GGGCTGGTTTCTTCAAAACGG 0.453 NA 5 140 0 0 0.000602 0 0 MDH1B 130752 broad.mit.edu 37 2 207621721 207621721 + Missense_Mutation SNP A A C TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr2:207621721A>C uc002vbs.2 - 4 369 c.314T>G c.(313-315)ATG>AGG p.M105R MDH1B_uc010ziw.1_RNA|MDH1B_uc010fui.2_Missense_Mutation_p.M105R|MDH1B_uc010fuj.2_Missense_Mutation_p.M7R|MDH1B_uc002vbt.2_RNA NM_001039845 NP_001034934 Q5I0G3 MDH1B_HUMAN malate dehydrogenase 1B, NAD (soluble) 105 carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle binding|malate dehydrogenase activity ovary(3)|kidney(1) 4 LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145) AGCAATTACCATCATCAGTTC 0.418 Pancreas(76;29 1355 28675 37177 51207) NA 14 53 0 0 0.004007 0 0 IDH1 3417 broad.mit.edu 37 2 209103826 209103826 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr2:209103826C>A uc002vcs.2 - 9 1369 c.1123G>T c.(1123-1125)GAC>TAC p.D375Y IDH1_uc002vct.2_Missense_Mutation_p.D375Y|IDH1_uc002vcu.2_Missense_Mutation_p.D375Y NM_005896 NP_005887 O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 375 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1) 2868 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) GCAGCCAAGTCCTTGGTCATG 0.423 Pancreas(158;264 1958 3300 35450 36047) NA Mis gliobastoma 19 79 1.78486e-19 3.20602e-19 0.007413 1 0 IDH1 3417 broad.mit.edu 37 2 209104696 209104696 + Silent SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr2:209104696C>A uc002vcs.2 - 8 1128 c.882G>T c.(880-882)GTG>GTT p.V294V IDH1_uc002vct.2_Silent_p.V294V|IDH1_uc002vcu.2_Silent_p.V294V NM_005896 NP_005887 O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 294 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1) 2868 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) GACAAACCAGCACGCTGGTCA 0.542 Pancreas(158;264 1958 3300 35450 36047) NA Mis gliobastoma 25 61 5.61819e-17 9.79581e-17 0.005443 1 0 CCDC108 255101 broad.mit.edu 37 2 219890792 219890792 + Silent SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr2:219890792G>A uc002vjl.1 - 14 2385 c.2301C>T c.(2299-2301)TTC>TTT p.F767F NM_194302 NP_919278 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 isoform 1 767 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) CAAAGCCAGCGAAATAGCTGT 0.597 NA 5 59 0 0 0.000602 0 0 ALPP 250 broad.mit.edu 37 2 233246046 233246046 + Silent SNP C C T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr2:233246046C>T uc002vsq.2 + 10 1443 c.1278C>T c.(1276-1278)GGC>GGT p.G426G ALPP_uc002vsr.2_RNA NM_001632 NP_001623 P05187 PPB1_HUMAN placental alkaline phosphatase preproprotein 426 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding ovary(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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) TCAAGGACGGCGCCCGGCCGG 0.697 NA 6 74 0 0 0.001984 0 0 UGT1A7 54577 broad.mit.edu 37 2 234590853 234590853 + Silent SNP C C T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr2:234590853C>T uc002vut.2 + 1 270 c.270C>T c.(268-270)TTC>TTT p.F90F UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Silent_p.F90F NM_019077 NP_061950 Q9HAW7 UD17_HUMAN UDP glycosyltransferase 1 family, polypeptide A7 90 drug metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome drug binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|retinoic acid binding ovary(1) 1 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746) ACCGGGAGTTCATGGTTTTTG 0.433 NA 55 139 0 0 0.00361 0 0 HDAC4 9759 broad.mit.edu 37 2 239988418 239988418 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr2:239988418C>A uc002vyk.3 - 24 3780 c.2988G>T c.(2986-2988)GAG>GAT p.E996D HDAC4_uc010fyy.2_Missense_Mutation_p.E953D NM_006037 NP_006028 P56524 HDAC4_HUMAN histone deacetylase 4 996 Histone deacetylase. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase 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)|potassium ion binding|repressing transcription factor binding|zinc ion binding breast(3)|skin(2)|ovary(1) 6 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) GTCTTCCTACCTCGTTTCCCA 0.637 NA 53 126 3.21867e-24 6.12835e-24 0.00361 1 0 GPR35 2859 broad.mit.edu 37 2 241569993 241569993 + Silent SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr2:241569993G>A uc002vzs.1 + 1 1199 c.624G>A c.(622-624)CAG>CAA p.Q208Q GPR35_uc010fzh.1_Silent_p.Q239Q|GPR35_uc010fzi.1_Silent_p.Q239Q NM_005301 NP_005292 Q9HC97 GPR35_HUMAN G protein-coupled receptor 35 208 Cytoplasmic (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) ACGTGGGGCAGGCAGAGGCCA 0.687 NA 21 28 0 0 0.001523 0 0 AQP12B 653437 broad.mit.edu 37 2 241622061 241622061 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr2:241622061C>A uc010fzj.2 - 1 257 c.194G>T c.(193-195)GGG>GTG p.G65V AQP12B_uc002vzt.2_Intron NM_001102467 NP_001095937 A6NM10 AQ12B_HUMAN aquaporin 12B 53 integral to membrane transporter activity 0 all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|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;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757) CCCAAAGTCCCCAGCCCAGGG 0.701 NA 20 32 1.33834e-09 2.06165e-09 0.007413 1 0 MYH7B 57644 broad.mit.edu 37 20 33578063 33578063 + Missense_Mutation SNP G G C TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr20:33578063G>C uc002xbi.1 + 20 2145 c.2053G>C c.(2053-2055)GAG>CAG p.E685Q MIR499_hsa-mir-499|MI0003183_5'Flank NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN myosin, heavy polypeptide 7B, cardiac muscle, 643 Myosin head-like. membrane|myosin filament actin binding|ATP binding|motor activity ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00691) TGGGGTGAAAGAGAAGCGTAA 0.597 NA 5 252 0 0 0.001984 0 0 DLGAP4 22839 broad.mit.edu 37 20 35060507 35060507 + Silent SNP C C T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr20:35060507C>T uc002xff.2 + 3 822 c.387C>T c.(385-387)GCC>GCT p.A129A DLGAP4_uc010zvp.1_Silent_p.A129A NM_014902 NP_055717 Q9Y2H0 DLGP4_HUMAN disks large-associated protein 4 isoform a 129 cell-cell signaling membrane protein binding skin(2)|ovary(1) 3 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) GTGGCGAGGCCAAGGCCCGTG 0.642 NA 25 232 0 0 0.00333 0 0 PPP1R16B 26051 broad.mit.edu 37 20 37547132 37547132 + Silent SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr20:37547132G>T uc002xje.2 + 11 1716 c.1527G>T c.(1525-1527)ACG>ACT p.T509T PPP1R16B_uc010ggc.2_Silent_p.T467T NM_015568 NP_056383 Q96T49 PP16B_HUMAN protein phosphatase 1 regulatory inhibitor 509 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding upper_aerodigestive_tract(1)|kidney(1)|skin(1) 3 Myeloproliferative disorder(115;0.00878) TGGCCAGGACGGGCGAGAGTA 0.622 NA 22 21 5.26018e-13 8.57481e-13 0.001882 1 0 CASS4 57091 broad.mit.edu 37 20 55027049 55027050 + Missense_Mutation DNP CC CC AA TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr20:55027049_55027050CC>AA uc002xxp.2 + 6 1042_1043 c.817_818CC>AA c.(817-819)CCC>AAC p.P273N CASS4_uc002xxq.3_Missense_Mutation_p.P273N|CASS4_uc002xxr.2_Missense_Mutation_p.P273N|CASS4_uc010zze.1_Missense_Mutation_p.P219N|CASS4_uc010gio.2_Intron NM_001164116 NP_001157588 Q9NQ75 CASS4_HUMAN HEF-like protein isoform a 273 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity ovary(2)|skin(1) 3 CCACGCTCTCCCCAGTTCCAGC 0.515 NA 37 176 0 0 0.004672 0 0 EDN3 1908 broad.mit.edu 37 20 57876513 57876513 + Missense_Mutation SNP C C T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr20:57876513C>T uc002yap.2 + 2 470 c.101C>T c.(100-102)TCC>TTC p.S34F EDN3_uc002yao.1_Missense_Mutation_p.S34F|EDN3_uc002yaq.2_Missense_Mutation_p.S34F|EDN3_uc002yar.2_Missense_Mutation_p.S34F|EDN3_uc002yas.2_Missense_Mutation_p.S34F NM_000114 NP_000105 P14138 EDN3_HUMAN endothelin 3 isoform 1 preproprotein 34 cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space|soluble fraction endothelin B receptor binding|hormone activity skin(1) 1 all_lung(29;0.0115) CGCGGCGTGTCCCAGGCCCCC 0.657 NA 78 31 0 0 0.00361 0 0 C20orf20 55257 broad.mit.edu 37 20 61430850 61430850 + Missense_Mutation SNP C C G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr20:61430850C>G uc002ydi.2 + 5 541 c.470C>G c.(469-471)TCC>TGC p.S157C NM_018270 NP_060740 Q9NV56 MRGBP_HUMAN MRG-binding protein 157 chromatin modification|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent H4/H2A histone acetyltransferase complex 0 Breast(26;3.65e-08) TCAGAAAAATCCAGCAAAGAC 0.453 NA 9 170 0 0 0.004482 0 0 TPTE 7179 broad.mit.edu 37 21 10908861 10908861 + Missense_Mutation SNP T T C TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr21:10908861T>C uc002yip.1 - 23 1852 c.1484A>G c.(1483-1485)TAC>TGC p.Y495C TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.Y477C|TPTE_uc002yir.1_Missense_Mutation_p.Y457C|TPTE_uc010gkv.1_Missense_Mutation_p.Y357C NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 495 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CAACCAGAAGTAAAATGAGCA 0.279 NA 4 97 0 0 0.000602 0 0 NRIP1 8204 broad.mit.edu 37 21 16339433 16339433 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr21:16339433C>A uc002yjx.2 - 4 1679 c.1081G>T c.(1081-1083)GGT>TGT p.G361C NM_003489 NP_003480 P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 361 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) TTCTTATAACCTGCATTTTTA 0.363 NA 51 100 3.07002e-29 6.01369e-29 0.00361 1 0 TMPRSS15 5651 broad.mit.edu 37 21 19687463 19687463 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr21:19687463C>A uc002ykw.2 - 17 2063 c.2032G>T c.(2032-2034)GTG>TTG p.V678L NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 678 Extracellular (Potential).|LDL-receptor class A 2.|SRCR. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 TAAGACATACCACAATCTGCT 0.398 NA 10 83 7.48243e-07 1.03536e-06 0.006214 1 0 TIAM1 7074 broad.mit.edu 37 21 32559330 32559330 + Missense_Mutation SNP T T A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr21:32559330T>A uc002yow.1 - 15 3121 c.2649A>T c.(2647-2649)TTA>TTT p.L883F TIAM1_uc011adk.1_Missense_Mutation_p.L883F|TIAM1_uc011adl.1_Missense_Mutation_p.L823F NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 883 PDZ. 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 TCTTGGAAGCTAAACCGGTTT 0.438 NA 109 176 0 0 0.00361 0 0 PRMT2 3275 broad.mit.edu 37 21 48064292 48064292 + Silent SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr21:48064292G>T uc002zjx.2 + 5 533 c.219G>T c.(217-219)GCG>GCT p.A73A PRMT2_uc002zjw.2_Silent_p.A73A|PRMT2_uc002zjy.2_Silent_p.A73A|PRMT2_uc010gqm.2_Silent_p.A73A|PRMT2_uc011aga.1_Silent_p.A73A|PRMT2_uc011agb.1_Silent_p.A73A|PRMT2_uc011agc.1_Silent_p.A73A|PRMT2_uc002zjz.1_5'UTR NM_206962 NP_996845 P55345 ANM2_HUMAN HMT1 hnRNP methyltransferase-like 1 73 SH3. developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway cytosol|nucleus androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity ovary(1) 1 Breast(49;0.247) Lung NSC(3;0.245) Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248) GTGAGCGTGCGGGCTGCTGTG 0.488 NA 54 67 9.22156e-22 1.70134e-21 0.00361 1 0 MICAL3 57553 broad.mit.edu 37 22 18301725 18301725 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr22:18301725C>A uc002zng.3 - 26 4055 c.3702G>T c.(3700-3702)AGG>AGT p.R1234S MICAL3_uc011agl.1_Missense_Mutation_p.R1150S NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN microtubule associated monoxygenase, calponin 1234 Pro-rich. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding 0 all_epithelial(15;0.198) Lung(27;0.0427) AGACAGGAGTCCTAGCTTCTG 0.652 NA 9 21 0.00448238 0.005499 0.004482 1 0 NEFH 4744 broad.mit.edu 37 22 29881765 29881765 + Silent SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr22:29881765C>A uc003afo.2 + 3 1208 c.1137C>A c.(1135-1137)GCC>GCA p.A379A NM_021076 NP_066554 P12036 NFH_HUMAN neurofilament, heavy polypeptide 200kDa 379 Coil 2B.|Rod. cell death|nervous system development neurofilament 0 GGGAGATGGCCGCCCAGCTGC 0.572 NA 12 43 4.3838e-07 6.10143e-07 0.001855 1 0 TBC1D10A 83874 broad.mit.edu 37 22 30688782 30688782 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr22:30688782C>A uc011akt.1 - 11 1133 c.1109G>T c.(1108-1110)CGG>CTG p.R370L GATSL3_uc003ahf.2_RNA|GATSL3_uc003ahg.2_Intron|GATSL3_uc003ahh.2_Intron|GATSL3_uc010gvq.2_Intron|GATSL3_uc003ahi.2_Missense_Mutation_p.R228L|TBC1D10A_uc003ahj.3_Missense_Mutation_p.R282L|TBC1D10A_uc010gvu.2_Missense_Mutation_p.R377L|TBC1D10A_uc003ahk.3_Missense_Mutation_p.R370L NM_031937 NP_114143 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 370 intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity ovary(1) 1 CTGCCAGCGCCGCAGCTGAAT 0.647 NA 3 22 0.004672 0.00570224 0.004672 1 0 CSF2RB 1439 broad.mit.edu 37 22 37333578 37333578 + Silent SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr22:37333578C>A uc003aqa.3 + 14 1945 c.1728C>A c.(1726-1728)GCC>GCA p.A576A CSF2RB_uc003aqc.3_Silent_p.A582A NM_000395 NP_000386 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta 576 Cytoplasmic (Potential). respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity skin(2)|pancreas(1) 3 Sargramostim(DB00020) CGCCTGCCGCCTCCCACACAC 0.657 NA 5 22 0.00448238 0.005499 0.004482 1 0 TMEM184B 25829 broad.mit.edu 37 22 38620938 38620938 + Missense_Mutation SNP T T A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr22:38620938T>A uc003avf.1 - 8 1060 c.836A>T c.(835-837)CAC>CTC p.H279L TMEM184B_uc003avg.1_Missense_Mutation_p.H279L|TMEM184B_uc003avh.1_Missense_Mutation_p.H213L NM_012264 NP_036396 Q9Y519 T184B_HUMAN transmembrane protein 184B 279 integral to membrane 0 Melanoma(58;0.045) GCGGGCCGAGTGGATTTTGGG 0.632 NA 5 14 0 0 0.000602 0 0 APOBEC3A 200315 broad.mit.edu 37 22 39358206 39358206 + Silent SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr22:39358206G>T uc003awn.2 + 4 743 c.573G>T c.(571-573)CGG>CGT p.R191R APOBEC3A_uc011aob.1_Silent_p.R173R|APOBEC3A_uc011aoc.1_Silent_p.R191R NM_145699 NP_663745 P31941 ABC3A_HUMAN phorbolin 1 191 cellular response to xenobiotic stimulus|defense response to virus|DNA cytosine deamination|DNA demethylation|innate immune response|negative regulation of transposition|negative regulation of viral genome replication cytoplasm|nucleus cytidine deaminase activity|zinc ion binding ovary(1) 1 Melanoma(58;0.04) GGAGGCTGCGGGCCATTCTCC 0.468 NA 14 52 0.000151284 0.000194625 0.001855 1 0 TNRC6B 23112 broad.mit.edu 37 22 40661419 40661419 + Silent SNP C C T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr22:40661419C>T uc011aor.1 + 5 1396 c.1185C>T c.(1183-1185)CCC>CCT p.P395P TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Silent_p.P395P|TNRC6B_uc003ayo.2_Silent_p.P199P NM_001162501 NP_001155973 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B isoform 1 395 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding 0 AGGGAATGCCCTTTGGAATGG 0.478 NA 12 38 0 0 0.000978 0 0 SCN11A 11280 broad.mit.edu 37 3 38991610 38991610 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr3:38991610C>A uc011ays.1 - 1 443 c.244G>T c.(244-246)GAC>TAC p.D82Y NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 82 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TAGAATGGGTCCAAGTCTTCC 0.443 NA 29 79 5.61819e-17 9.79581e-17 0.005443 1 0 CX3CR1 1524 broad.mit.edu 37 3 39307362 39307362 + Missense_Mutation SNP T T G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr3:39307362T>G uc003cjl.2 - 2 731 c.639A>C c.(637-639)AGA>AGC p.R213S NM_001337 NP_001328 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 213 Helical; Name=5; (Potential). cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity lung(3) 3 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) TCTGGATGATTCTGAAGTAGC 0.478 NA 43 101 0 0 0.002222 0 0 FYCO1 79443 broad.mit.edu 37 3 46014653 46014653 + Nonsense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr3:46014653C>A uc003cpb.3 - 6 672 c.466G>T c.(466-468)GAG>TAG p.E156* FYCO1_uc011bal.1_Nonsense_Mutation_p.E156* NM_024513 NP_078789 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 156 RUN. transport integral to membrane metal ion binding|protein binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) TCAGTCAGCTCATAGAGTTGG 0.478 NA 45 56 3.7052e-28 7.19868e-28 0.003214 1 0 DNASE1L3 1776 broad.mit.edu 37 3 58183597 58183597 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr3:58183597C>A uc003djo.1 - 6 752 c.655G>T c.(655-657)GAC>TAC p.D219Y DNASE1L3_uc011bfd.1_Missense_Mutation_p.D189Y|DNASE1L3_uc003djp.1_Missense_Mutation_p.D219Y|DNASE1L3_uc003djq.1_Missense_Mutation_p.D219Y NM_004944 NP_004935 Q13609 DNSL3_HUMAN deoxyribonuclease I-like 3 precursor 219 apoptosis|DNA catabolic process nucleus calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters breast(2)|large_intestine(1) 3 BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202) TCCTCTTGGTCCCCGATCAGC 0.572 Esophageal Squamous(96;1069 1424 4841 43466 52325) NA 23 51 6.44725e-10 1.00291e-09 0.002299 1 0 OR5K3 403277 broad.mit.edu 37 3 98109910 98109910 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr3:98109910C>A uc011bgw.1 + 1 401 c.401C>A c.(400-402)ACC>AAC p.T134N NM_001005516 NP_001005516 A6NET4 OR5K3_HUMAN olfactory receptor, family 5, subfamily K, 134 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CAGTACCACACCATGATGTCC 0.468 NA 54 138 5.57489e-27 1.07435e-26 0.00361 1 0 ABI3BP 25890 broad.mit.edu 37 3 100604424 100604424 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr3:100604424C>A uc003dun.2 - 6 758 c.673G>T c.(673-675)GTA>TTA p.V225L ABI3BP_uc003duo.2_Missense_Mutation_p.V218L|ABI3BP_uc003dup.3_Missense_Mutation_p.V218L NM_015429 NP_056244 Q7Z7G0 TARSH_HUMAN ABI gene family, member 3 (NESH) binding protein 225 extracellular space ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1) 4 TTCCCATTTACTTTTTTACCT 0.303 NA 6 8 0.00198382 0.00247198 0.001984 1 0 SENP7 57337 broad.mit.edu 37 3 101090930 101090930 + Missense_Mutation SNP T T G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr3:101090930T>G uc003dut.2 - 7 829 c.718A>C c.(718-720)AAG>CAG p.K240Q SENP7_uc003duu.2_Missense_Mutation_p.K175Q|SENP7_uc003duv.2_Missense_Mutation_p.K207Q|SENP7_uc003duw.2_Missense_Mutation_p.K174Q|SENP7_uc003dux.2_Missense_Mutation_p.K76Q NM_020654 NP_065705 Q9BQF6 SENP7_HUMAN sentrin/SUMO-specific protease 7 isoform 1 240 proteolysis nucleus cysteine-type peptidase activity ovary(3)|lung(2) 5 GCAGTCTGCTTTGCAGAATTG 0.373 NA 5 127 0 0 0.001168 0 0 BOC 91653 broad.mit.edu 37 3 113002297 113002297 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr3:113002297C>A uc003dzx.2 + 16 3092 c.2471C>A c.(2470-2472)CCA>CAA p.P824Q BOC_uc003dzy.2_Missense_Mutation_p.P824Q|BOC_uc003dzz.2_Missense_Mutation_p.P825Q|BOC_uc003eab.2_Missense_Mutation_p.P525Q|BOC_uc003eac.2_Missense_Mutation_p.P139Q NM_033254 NP_150279 Q9BWV1 BOC_HUMAN brother of CDO precursor 824 Extracellular (Potential). cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1) 6 Epithelial(53;0.227) CTGCCACCCCCAACTCTGGCC 0.557 NA 66 164 1.37693e-34 2.76549e-34 0.00361 1 0 WDR52 55779 broad.mit.edu 37 3 113119471 113119471 + Silent SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr3:113119471G>T uc003eae.1 - 12 1441 c.1395C>A c.(1393-1395)CTC>CTA p.L465L NM_018338 NP_060808 Q96MT7 WDR52_HUMAN WD repeat domain 52 isoform 2 465 central_nervous_system(1) 1 GGAAGGAGAAGAGGCATTCTG 0.408 NA 7 77 0.00307968 0.00379774 0.00308 1 0 MYLK 4638 broad.mit.edu 37 3 123458825 123458825 + Nonsense_Mutation SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr3:123458825G>A uc003ego.2 - 6 679 c.397C>T c.(397-399)CAG>TAG p.Q133* MYLK_uc011bjw.1_Nonsense_Mutation_p.Q133*|MYLK_uc003egp.2_Nonsense_Mutation_p.Q133*|MYLK_uc003egq.2_Nonsense_Mutation_p.Q133*|MYLK_uc003egr.2_Nonsense_Mutation_p.Q133*|MYLK_uc003egs.2_5'UTR|MYLK_uc010hrs.1_Nonsense_Mutation_p.Q133* NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 133 Q -> H. 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) ACAACAGGCTGACCAAGCTGC 0.463 NA 6 241 0 0 0.001168 0 0 UMPS 7372 broad.mit.edu 37 3 124462773 124462773 + Missense_Mutation SNP G G A rs121917891 TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr3:124462773G>A uc003ehl.3 + 6 1391 c.1285G>A c.(1285-1287)GGC>AGC p.G429S UMPS_uc003ehm.3_RNA|UMPS_uc011bka.1_Missense_Mutation_p.G251S|UMPS_uc011bkb.1_Missense_Mutation_p.G337S|UMPS_uc011bkc.1_Missense_Mutation_p.G251S|UMPS_uc003ehn.3_Missense_Mutation_p.G251S|UMPS_uc011bkd.1_Missense_Mutation_p.G154S NM_000373 NP_000364 P11172 UMPS_HUMAN uridine monophosphate synthase 429 OMPdecase. G -> R (in ORAC1). 'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process cytosol|nucleus orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity kidney(1) 1 GBM - Glioblastoma multiforme(114;0.146) AGATAATCTTGGCCAACAGTA 0.398 NA 28 59 0 0 0.001786 0 0 MSL2 55167 broad.mit.edu 37 3 135870109 135870109 + Missense_Mutation SNP G G T rs138536154 byFrequency TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr3:135870109G>T uc003eqx.1 - 2 2347 c.1614C>A c.(1612-1614)AAC>AAA p.N538K MSL2_uc011bmb.1_Missense_Mutation_p.N464K NM_018133 NP_060603 Q9HCI7 MSL2_HUMAN ring finger protein 184 isoform 1 538 histone H4-K16 acetylation MSL complex zinc ion binding central_nervous_system(1) 1 TGGTACTAGCGTTACGCACAG 0.483 NA 7 79 8.12818e-05 0.000105711 0.001984 1 0 CRYGS 1427 broad.mit.edu 37 3 186257351 186257351 + Silent SNP A A T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr3:186257351A>T uc003fqe.2 - 2 109 c.57T>A c.(55-57)CGT>CGA p.R19R CRYGS_uc003fqf.2_Silent_p.R19R NM_017541 NP_060011 P22914 CRBS_HUMAN crystallin, gamma S 19 Beta/gamma crystallin 'Greek key' 1. structural constituent of eye lens 0 all_cancers(143;3.75e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.5e-22) GBM - Glioblastoma multiforme(93;0.0906) AGTCATAGCGACGGCCTTGAA 0.443 NA 24 40 0 0 0.003954 0 0 BCL6 604 broad.mit.edu 37 3 187447128 187447128 + Silent SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr3:187447128G>T uc003frp.3 - 5 1522 c.1065C>A c.(1063-1065)ATC>ATA p.I355I BCL6_uc011bsf.1_Silent_p.I355I|BCL6_uc010hza.2_Silent_p.I253I|BCL6_uc003frq.1_Silent_p.I355I NM_001130845 NP_001124317 P41182 BCL6_HUMAN B-cell lymphoma 6 protein isoform 1 355 negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|lung(2)|central_nervous_system(1) 5 all_cancers(143;9.45e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0141) AAGCCTGGAGGATGCAGGCAT 0.572 NA T|Mis IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3 NHL|CLL 27 208 7.41945e-09 1.11409e-08 0.005443 1 0 SORCS2 57537 broad.mit.edu 37 4 7728606 7728606 + Missense_Mutation SNP G G C TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr4:7728606G>C uc003gkb.3 + 21 2845 c.2845G>C c.(2845-2847)GAC>CAC p.D949H SORCS2_uc011bwi.1_Missense_Mutation_p.D777H NM_020777 NP_065828 Q96PQ0 SORC2_HUMAN VPS10 domain receptor protein SORCS 2 precursor 949 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(1)|central_nervous_system(1) 2 GGTGCTGCAGGACTCCAGGGT 0.632 NA 21 34 0 0 0.001216 0 0 N4BP2 55728 broad.mit.edu 37 4 40104287 40104287 + Silent SNP C C T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr4:40104287C>T uc003guy.3 + 4 1160 c.822C>T c.(820-822)TGC>TGT p.C274C N4BP2_uc010ifq.2_Silent_p.C194C|N4BP2_uc010ifr.2_Silent_p.C194C NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Nedd4 binding protein 2 274 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding lung(3)|breast(2)|kidney(2)|ovary(1) 8 AATCTGAGTGCGTTGAGGCTC 0.433 NA 19 92 0 0 0.007413 0 0 REST 5978 broad.mit.edu 37 4 57777171 57777171 + Missense_Mutation SNP C C G rs149829250 byFrequency TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr4:57777171C>G uc003hch.2 + 2 714 c.367C>G c.(367-369)CCT>GCT p.P123A REST_uc003hci.2_Missense_Mutation_p.P123A|REST_uc003hcj.1_Missense_Mutation_p.P123A|REST_uc010ihf.2_5'UTR NM_005612 NP_005603 Q13127 REST_HUMAN RE1-silencing transcription factor 123 cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1) 9 Glioma(25;0.08)|all_neural(26;0.181) AGAACCTCAGCCTGTATTTGA 0.463 NA 18 60 0 0 0.001216 0 0 LPHN3 23284 broad.mit.edu 37 4 62778453 62778453 + Missense_Mutation SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr4:62778453G>A uc010ihh.2 + 10 2059 c.1886G>A c.(1885-1887)CGC>CAC p.R629H LPHN3_uc003hcq.3_Missense_Mutation_p.R629H|LPHN3_uc003hct.2_Intron|LPHN3_uc003hcs.1_Intron NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 AAAAGAGAGCGCTCTTGCAGA 0.363 NA 23 92 0 0 0.002299 0 0 TECRL 253017 broad.mit.edu 37 4 65147240 65147240 + Silent SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr4:65147240G>T uc003hcv.2 - 10 979 c.870C>A c.(868-870)CCC>CCA p.P290P TECRL_uc010ihi.2_RNA NM_001010874 NP_001010874 Q5HYJ1 TECRL_HUMAN steroid 5 alpha-reductase 2-like 2 290 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors 0 TCCATGTGAAGGGGTTATAAT 0.328 NA 18 46 1.15919e-05 1.54126e-05 0.001216 1 0 MUC7 4589 broad.mit.edu 37 4 71347156 71347156 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr4:71347156C>A uc011cat.1 + 4 983 c.695C>A c.(694-696)CCA>CAA p.P232Q MUC7_uc011cau.1_Missense_Mutation_p.P232Q|MUC7_uc003hfj.2_Missense_Mutation_p.P232Q|uc011cav.1_Intron NM_001145006 NP_001138478 Q8TAX7 MUC7_HUMAN mucin 7, secreted precursor 232 3.|Thr-rich. extracellular region protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 Lung(101;0.211) TCAGCTCCACCAGAGACCACA 0.587 NA 66 114 1.63498e-16 2.81975e-16 0.00361 1 0 PDHA2 5161 broad.mit.edu 37 4 96762444 96762444 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr4:96762444G>T uc003htr.3 + 1 1206 c.1143G>T c.(1141-1143)TGG>TGT p.W381C NM_005390 NP_005381 P29803 ODPAT_HUMAN pyruvate dehydrogenase E1 alpha 2 precursor 381 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) CAAATCCATGGATCAAGTTTA 0.413 NA 13 90 4.3838e-07 6.10143e-07 0.001855 1 0 FAT4 79633 broad.mit.edu 37 4 126372404 126372404 + Silent SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr4:126372404G>T uc003ifj.3 + 9 10233 c.10233G>T c.(10231-10233)GTG>GTT p.V3411V FAT4_uc011cgp.1_Silent_p.V1709V|FAT4_uc003ifi.1_Silent_p.V889V NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 3411 Cadherin 33.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TCTACAGTGTGCAGATCAGTG 0.463 NA 14 192 4.36969e-10 6.81958e-10 0.001855 1 0 PCDH10 57575 broad.mit.edu 37 4 134071514 134071514 + Silent SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr4:134071514G>T uc003iha.2 + 1 1045 c.219G>T c.(217-219)CTG>CTT p.L73L uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.L73L NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 73 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) CAGGGGTGCTGTACGTGAACG 0.542 NA 7 112 0.00307968 0.00379774 0.00308 1 0 TIGD4 201798 broad.mit.edu 37 4 153691222 153691222 + Missense_Mutation SNP G G A rs149761550 byFrequency TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr4:153691222G>A uc003imy.2 - 2 1717 c.935C>T c.(934-936)TCT>TTT p.S312F NM_145720 NP_663772 Q8IY51 TIGD4_HUMAN tigger transposable element derived 4 312 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|DNA binding ovary(1) 1 all_hematologic(180;0.093) ACATTTGGAAGATAAACATGA 0.348 NA 49 81 0 0 0.00361 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5200305 5200305 + Missense_Mutation SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr5:5200305G>A uc003jdl.2 + 9 1512 c.1374G>A c.(1372-1374)ATG>ATA p.M458I ADAMTS16_uc003jdk.1_Missense_Mutation_p.M458I|ADAMTS16_uc003jdj.1_Missense_Mutation_p.M458I NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 458 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 GCAACATCATGTCCCCTACAT 0.423 NA 9 50 0 0 0.004482 0 0 CDH12 1010 broad.mit.edu 37 5 21975358 21975358 + Missense_Mutation SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr5:21975358G>A uc010iuc.2 - 3 826 c.368C>T c.(367-369)CCT>CTT p.P123L CDH12_uc011cno.1_Missense_Mutation_p.P123L|CDH12_uc003jgk.2_Missense_Mutation_p.P123L NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 123 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 AGTGTAGAAAGGTTTCTCTTC 0.443 NA HNSCC(59;0.17) 4 175 0 0 0.000248 0 0 CDH10 1008 broad.mit.edu 37 5 24537674 24537674 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr5:24537674G>T uc003jgr.1 - 3 673 c.341C>A c.(340-342)ACA>AAA p.T114K CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 114 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) AATTCGCCTTGTGGCATGAAT 0.408 NA HNSCC(23;0.051) 26 118 4.22769e-11 6.66352e-11 0.00632 1 0 DNAJC21 134218 broad.mit.edu 37 5 34937468 34937468 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr5:34937468G>T uc003jjc.2 + 5 703 c.476G>T c.(475-477)TGC>TTC p.C159F DNAJC21_uc003jjb.2_Missense_Mutation_p.C159F|DNAJC21_uc010iuu.1_Missense_Mutation_p.C43F NM_001012339 NP_001012339 Q5F1R6 DJC21_HUMAN DnaJ homology subfamily A member 5 isoform 2 159 protein folding ribosome heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding breast(1)|skin(1) 2 all_lung(31;7.08e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) CAGAGTTTCTGCACTCAAAAG 0.373 NA 28 33 2.2171e-23 4.15488e-23 0.001786 1 0 NUP155 9631 broad.mit.edu 37 5 37299057 37299057 + Missense_Mutation SNP T T C TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr5:37299057T>C uc003jku.1 - 32 3824 c.3706A>G c.(3706-3708)AGC>GGC p.S1236G NUP155_uc003jkt.1_Missense_Mutation_p.S1177G|NUP155_uc010iuz.1_Missense_Mutation_p.S1172G NM_153485 NP_705618 O75694 NU155_HUMAN nucleoporin 155kDa isoform 1 1236 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity ovary(1) 1 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TCCGAGGAGCTCAATGTCACA 0.368 NA 3 46 0 0 0.000602 0 0 EGFLAM 133584 broad.mit.edu 37 5 38458490 38458490 + Missense_Mutation SNP C C A rs139285515 byFrequency TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr5:38458490C>A uc003jlc.1 + 21 3113 c.2789C>A c.(2788-2790)GCC>GAC p.A930D EGFLAM_uc003jlb.1_Missense_Mutation_p.A922D|EGFLAM_uc003jle.1_Missense_Mutation_p.A688D|EGFLAM_uc003jlf.1_Missense_Mutation_p.A288D|EGFLAM_uc003jlg.1_Missense_Mutation_p.A65D NM_152403 NP_689616 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G 930 Laminin G-like 3. cell junction|proteinaceous extracellular matrix|synapse pancreas(3)|skin(3)|ovary(1) 7 all_lung(31;0.000385) CGAGTTAAGGCCGTTAGGTGA 0.562 Colon(62;485 1295 3347 17454) NA 18 66 1.15919e-05 1.54126e-05 0.001216 1 0 OSMR 9180 broad.mit.edu 37 5 38883971 38883971 + Missense_Mutation SNP A A T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr5:38883971A>T uc003jln.1 + 5 828 c.461A>T c.(460-462)AAA>ATA p.K154I OSMR_uc003jlm.1_Missense_Mutation_p.K154I NM_003999 NP_003990 Q99650 OSMR_HUMAN oncostatin M receptor precursor 154 Extracellular (Potential). cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 all_lung(31;0.000365) GTTTTCCCTAAAGATAAGCTG 0.348 NA 33 120 0 0 0.004289 0 0 DAB2 1601 broad.mit.edu 37 5 39383196 39383196 + Missense_Mutation SNP T T A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr5:39383196T>A uc003jlx.2 - 10 1396 c.865A>T c.(865-867)ACC>TCC p.T289S DAB2_uc003jlw.2_Missense_Mutation_p.T268S NM_001343 NP_001334 P98082 DAB2_HUMAN disabled homolog 2 289 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding kidney(2)|skin(1) 3 all_lung(31;0.000197) Epithelial(62;0.137) GGATTAGGGGTGGGAAAGAAG 0.473 NA 47 160 0 0 0.00361 0 0 ANKRD34B 340120 broad.mit.edu 37 5 79855060 79855060 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr5:79855060C>A uc010jam.2 - 4 1129 c.779G>T c.(778-780)AGA>ATA p.R260I ANKRD34B_uc003kgw.2_Missense_Mutation_p.R260I|ANKRD34B_uc010jan.2_Missense_Mutation_p.R260I NM_001004441 NP_001004441 A5PLL1 AN34B_HUMAN ankyrin repeat domain 34B 260 cytoplasm|nucleus pancreas(1) 1 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36) TGAAGCCACTCTGTTCTGGTG 0.532 NA 31 90 4.4194e-11 6.94269e-11 0.002836 1 0 PCSK1 5122 broad.mit.edu 37 5 95764992 95764992 + Missense_Mutation SNP G G C TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr5:95764992G>C uc003kls.1 - 2 416 c.210C>G c.(208-210)TTC>TTG p.F70L NM_000439 NP_000430 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 70 cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity ovary(2) 2 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TTTTATGTTTGAATAAGTAGT 0.328 NA 5 103 0 0 0.000602 0 0 CSNK1G3 1456 broad.mit.edu 37 5 122909090 122909090 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr5:122909090G>T uc003ktm.2 + 5 1012 c.293G>T c.(292-294)GGT>GTT p.G98V CSNK1G3_uc003ktl.2_Missense_Mutation_p.G98V|CSNK1G3_uc003ktn.2_Missense_Mutation_p.G98V|CSNK1G3_uc003kto.2_Missense_Mutation_p.G98V|CSNK1G3_uc011cwr.1_Missense_Mutation_p.G23V|CSNK1G3_uc011cws.1_5'UTR|CSNK1G3_uc010jda.2_Missense_Mutation_p.G98V NM_004384 NP_004375 Q9Y6M4 KC1G3_HUMAN casein kinase 1, gamma 3 isoform 1 98 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity 0 all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245) KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229) OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176) CCCCCAGATGGTATACCTCAA 0.338 Pancreas(187;2868 2964 4353 6297) NA 8 159 0.000274275 0.000348147 0.004482 1 0 FBN2 2201 broad.mit.edu 37 5 127713551 127713551 + Missense_Mutation SNP C C G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr5:127713551C>G uc003kuu.2 - 13 2182 c.1743G>C c.(1741-1743)CAG>CAC p.Q581H FBN2_uc003kuv.2_Missense_Mutation_p.Q548H NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 581 EGF-like 8; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GAACCCCATTCTGGATGCACT 0.358 NA 15 203 0 0 0.003163 0 0 FBN2 2201 broad.mit.edu 37 5 127713567 127713567 + Missense_Mutation SNP A A T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr5:127713567A>T uc003kuu.2 - 13 2166 c.1727T>A c.(1726-1728)ATT>AAT p.I576N FBN2_uc003kuv.2_Missense_Mutation_p.I543N NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 576 EGF-like 8; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GCACTCATCAATATCTAGGAA 0.348 NA 11 180 0 0 0.001855 0 0 ACSL6 23305 broad.mit.edu 37 5 131324551 131324551 + Missense_Mutation SNP A A G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr5:131324551A>G uc010jdo.1 - 6 607 c.524T>C c.(523-525)GTC>GCC p.V175A ACSL6_uc003kvv.1_RNA|ACSL6_uc003kvx.1_Missense_Mutation_p.V200A|ACSL6_uc003kvy.1_Missense_Mutation_p.V200A|ACSL6_uc003kwb.2_Missense_Mutation_p.V165A|ACSL6_uc003kvz.1_Missense_Mutation_p.V140A|ACSL6_uc003kwa.1_Missense_Mutation_p.V186A|ACSL6_uc010jdn.1_Missense_Mutation_p.V175A|ACSL6_uc010jdp.1_5'Flank NM_015256 NP_056071 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 175 Cytoplasmic (Potential). fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ATAGAGCGGGACCACCACCAT 0.587 NA 4 151 0 0 0.001168 0 0 PCDHB4 56131 broad.mit.edu 37 5 140502877 140502877 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr5:140502877C>A uc003lip.1 + 1 1297 c.1297C>A c.(1297-1299)CAG>AAG p.Q433K NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 precursor 433 Cadherin 4.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTGAAAACCCAGCAGAACAT 0.582 NA 33 123 1.02151e-06 1.40531e-06 0.002836 1 0 PCDHB7 56129 broad.mit.edu 37 5 140554464 140554464 + Nonsense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr5:140554464C>A uc003lit.2 + 1 2222 c.2048C>A c.(2047-2049)TCG>TAG p.S683* PCDHB8_uc011dai.1_5'Flank NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 683 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) CAGGCCAACTCGCTCACCGTC 0.706 NA 39 80 2.05212e-20 3.7141e-20 0.005524 1 0 PCDHGB1 56104 broad.mit.edu 37 5 140732045 140732045 + Missense_Mutation SNP A A T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr5:140732045A>T uc003ljo.1 + 1 2218 c.2218A>T c.(2218-2220)AGC>TGC p.S740C PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA4_uc003ljq.1_5'Flank|PCDHGB1_uc011daq.1_Missense_Mutation_p.S740C|PCDHGA4_uc003ljp.1_5'Flank NM_018922 NP_061745 Q9Y5G3 PCDGD_HUMAN protocadherin gamma subfamily B, 1 isoform 1 740 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCCAACCACAGCGAGGGGAC 0.562 NA 27 131 0 0 0.00632 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140735712 140735712 + Nonsense_Mutation SNP T T A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr5:140735712T>A uc003ljq.1 + 1 945 c.945T>A c.(943-945)TAT>TAA p.Y315* PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Nonsense_Mutation_p.Y315* NM_018917 NP_061740 Q9Y5G9 PCDG4_HUMAN protocadherin gamma subfamily A, 4 isoform 1 315 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGATTCTATGACATAGATG 0.438 NA 7 19 0 0 0.001984 0 0 PCDHGB5 56101 broad.mit.edu 37 5 140779378 140779378 + Missense_Mutation SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr5:140779378G>A uc003lkf.1 + 1 1684 c.1684G>A c.(1684-1686)GCG>ACG p.A562T 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_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.A562T NM_018925 NP_061748 Q9Y5G0 PCDGH_HUMAN protocadherin gamma subfamily B, 5 isoform 1 562 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGTACCCCGCGCTGGGTCC 0.692 NA 5 34 0 0 0.001168 0 0 GNPDA1 10007 broad.mit.edu 37 5 141387389 141387389 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr5:141387389C>A uc003lmf.3 - 2 960 c.201G>T c.(199-201)AAG>AAT p.K67N GNPDA1_uc003lmg.3_Missense_Mutation_p.K67N|GNPDA1_uc010jgh.2_Missense_Mutation_p.K67N|GNPDA1_uc003lmh.3_Intron NM_005471 NP_005462 P46926 GNPI1_HUMAN glucosamine-6-phosphate deaminase 1 67 generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization cytoplasm glucosamine-6-phosphate deaminase activity|hydrolase activity 0 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTTGAAGGTCTTCACATATT 0.478 NA 64 202 2.03652e-46 4.16045e-46 0.00361 1 0 PDE6A 5145 broad.mit.edu 37 5 149240474 149240474 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr5:149240474G>T uc003lrg.3 - 22 2687 c.2567C>A c.(2566-2568)TCC>TAC p.S856Y NM_000440 NP_000431 P16499 PDE6A_HUMAN phosphodiesterase 6A 856 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) GATGCAGCAGGACTTGGATGT 0.562 NA 9 24 1.08611e-07 1.5619e-07 0.000978 1 0 GABRA1 2554 broad.mit.edu 37 5 161317997 161317997 + Missense_Mutation SNP T T A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr5:161317997T>A uc010jiw.2 + 9 1265 c.797T>A c.(796-798)ATT>AAT p.I266N GABRA1_uc010jix.2_Missense_Mutation_p.I266N|GABRA1_uc010jiy.2_Missense_Mutation_p.I266N|GABRA1_uc003lyx.3_Missense_Mutation_p.I266N|GABRA1_uc010jiz.2_Missense_Mutation_p.I266N|GABRA1_uc010jja.2_Missense_Mutation_p.I266N|GABRA1_uc010jjb.2_Missense_Mutation_p.I266N NM_000806 NP_000797 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 266 Helical; (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|pancreas(1) 3 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) ATGACAGTGATTCTCTCACAA 0.413 NA 5 113 0 0 0.000602 0 0 HMMR 3161 broad.mit.edu 37 5 162896811 162896811 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr5:162896811G>T uc003lzf.2 + 5 617 c.435G>T c.(433-435)AGG>AGT p.R145S HMMR_uc003lzh.2_Missense_Mutation_p.R146S|HMMR_uc003lzg.2_Missense_Mutation_p.R130S|HMMR_uc011dem.1_Missense_Mutation_p.R59S NM_012484 NP_036616 O75330 HMMR_HUMAN hyaluronan-mediated motility receptor isoform b 145 cell surface|cytoplasm hyaluronic acid binding 0 Renal(175;0.000281) Medulloblastoma(196;0.00853)|all_neural(177;0.0408) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848) AATTGACCAGGACTAATGAAC 0.294 NA 19 22 3.85864e-22 7.14674e-22 0.00278 1 0 UIMC1 51720 broad.mit.edu 37 5 176332314 176332314 + Missense_Mutation SNP T T A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr5:176332314T>A uc011dfp.1 - 15 2296 c.2129A>T c.(2128-2130)AAA>ATA p.K710I UIMC1_uc003mfc.1_Missense_Mutation_p.K587I|UIMC1_uc003mfd.1_Missense_Mutation_p.K340I NM_016290 NP_057374 Q96RL1 UIMC1_HUMAN ubiquitin interaction motif containing 1 710 double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent BRCA1-A complex histone binding|K63-linked polyubiquitin binding ovary(3)|skin(1) 4 all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806) Medulloblastoma(196;0.0145)|all_neural(177;0.0325) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCTGCCAGCTTTGGTCCGTGT 0.448 NA 9 95 0 0 0.001368 0 0 PRPF4B 8899 broad.mit.edu 37 6 4032758 4032758 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr6:4032758G>T uc003mvv.2 + 2 1098 c.1007G>T c.(1006-1008)GGG>GTG p.G336V PRPF4B_uc011dhv.1_RNA NM_003913 NP_003904 Q13523 PRP4B_HUMAN serine/threonine-protein kinase PRP4K 336 Arg/Lys-rich (basic). catalytic step 2 spliceosome ATP binding|protein binding|protein serine/threonine kinase activity breast(5) 5 Ovarian(93;0.0925) all_hematologic(90;0.0895) GCTTCATCTGGGAAAGAAAAT 0.408 NA 69 59 1.43987e-31 2.85574e-31 0.00361 1 0 F13A1 2162 broad.mit.edu 37 6 6196057 6196057 + Silent SNP T T C TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr6:6196057T>C uc003mwv.2 - 10 1401 c.1278A>G c.(1276-1278)CAA>CAG p.Q426Q F13A1_uc011dib.1_Silent_p.Q363Q NM_000129 NP_000120 P00488 F13A_HUMAN coagulation factor XIII A1 subunit precursor 426 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1) 6 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) GTGCATCAAATTGGAAGCAGA 0.493 NA 4 76 0 0 0.000602 0 0 CDKAL1 54901 broad.mit.edu 37 6 21065370 21065370 + Missense_Mutation SNP G G C TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr6:21065370G>C uc003ndc.1 + 12 1321 c.1147G>C c.(1147-1149)GAG>CAG p.E383Q CDKAL1_uc003ndd.1_Missense_Mutation_p.E383Q|CDKAL1_uc003nde.1_Missense_Mutation_p.E313Q|CDKAL1_uc003ndf.1_5'UTR NM_017774 NP_060244 Q5VV42 CDKAL_HUMAN CDK5 regulatory subunit associated protein 383 RNA modification integral to membrane 4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity ovary(2) 2 all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227) OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248) ACTTGTTGAAGAGTACAAATT 0.373 NA 26 71 0 0 0.005443 0 0 TRIM10 10107 broad.mit.edu 37 6 30121946 30121946 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr6:30121946C>A uc003npo.3 - 7 1322 c.1246G>T c.(1246-1248)GGC>TGC p.G416C TRIM10_uc003npn.2_Intron NM_006778 NP_006769 Q9UDY6 TRI10_HUMAN tripartite motif-containing 10 isoform 1 416 B30.2/SPRY. cytoplasm zinc ion binding 0 GGGAAGGAGCCCAGAGCCGAG 0.662 NA 22 19 1.33986e-20 2.44358e-20 0.004656 1 0 PGK2 5232 broad.mit.edu 37 6 49753968 49753968 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr6:49753968C>A uc003ozu.2 - 1 1040 c.933G>T c.(931-933)TGG>TGT p.W311C NM_138733 NP_620061 P07205 PGK2_HUMAN phosphoglycerate kinase 2 311 glycolysis cytosol ATP binding|phosphoglycerate kinase activity ovary(1) 1 Lung NSC(77;0.0402) CCAAACCCATCCAGCCAGGAG 0.453 NA 111 122 8.62921e-31 1.69732e-30 0.00361 1 0 BEND6 221336 broad.mit.edu 37 6 56857338 56857338 + Missense_Mutation SNP T T A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr6:56857338T>A uc010kab.2 + 3 869 c.283T>A c.(283-285)TTG>ATG p.L95M BEND6_uc003pdg.2_RNA NM_152731 NP_689944 Q5SZJ8 BEND6_HUMAN BEN domain containing 6 95 Potential. 0 TCGACAGTCTTTGGTCATGCT 0.353 NA 20 243 0 0 0.002299 0 0 BAI3 577 broad.mit.edu 37 6 69728293 69728293 + Missense_Mutation SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr6:69728293G>A uc003pev.3 + 13 2457 c.2009G>A c.(2008-2010)GGG>GAG p.G670E BAI3_uc010kak.2_Missense_Mutation_p.G670E NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 670 Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) ATTTATCCAGGGTCAATAGAG 0.303 NA 7 108 0 0 0.00308 0 0 LMBRD1 55788 broad.mit.edu 37 6 70490434 70490434 + Missense_Mutation SNP C C G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr6:70490434C>G uc003pfa.2 - 3 374 c.259G>C c.(259-261)GCT>CCT p.A87P LMBRD1_uc003pez.2_Missense_Mutation_p.A14P|LMBRD1_uc010kal.2_Missense_Mutation_p.A14P|LMBRD1_uc003pfb.2_RNA NM_018368 NP_060838 Q9NUN5 LMBD1_HUMAN liver regeneration p-53 related protein 87 Extracellular (Potential). interspecies interaction between organisms|transport integral to membrane|lysosomal membrane cobalamin binding ovary(1) 1 CTGACATTAGCATTAGCCCAG 0.333 NA 38 32 0 0 0.001951 0 0 PTPRK 5796 broad.mit.edu 37 6 128294253 128294253 + Missense_Mutation SNP C C T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr6:128294253C>T uc003qbk.2 - 29 4547 c.4180G>A c.(4180-4182)GAA>AAA p.E1394K PTPRK_uc003qbj.2_Missense_Mutation_p.E1395K|PTPRK_uc010kfc.2_Missense_Mutation_p.E1401K|PTPRK_uc011ebu.1_Missense_Mutation_p.E1417K NM_002844 NP_002835 Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 1394 Tyrosine-protein phosphatase 2.|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) TTCACCATTTCAACAACGATG 0.443 NA 30 167 0 0 0.00632 0 0 ALDH8A1 64577 broad.mit.edu 37 6 135263563 135263563 + Silent SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr6:135263563C>A uc003qew.2 - 3 479 c.426G>T c.(424-426)CGG>CGT p.R142R ALDH8A1_uc003qex.2_Silent_p.R142R|ALDH8A1_uc010kgh.2_5'UTR|ALDH8A1_uc011ecx.1_Silent_p.R142R NM_022568 NP_072090 Q9H2A2 AL8A1_HUMAN aldehyde dehydrogenase 8A1 isoform 1 142 retinal metabolic process cytoplasm retinal dehydrogenase activity ovary(2)|pancreas(1)|skin(1) 4 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058) CCACCGGGGCCCGCACCGTGT 0.582 NA 27 40 1.50538e-07 2.15832e-07 0.00632 1 0 GRM1 2911 broad.mit.edu 37 6 146720434 146720434 + Silent SNP G G C TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr6:146720434G>C uc010khw.1 + 8 2729 c.2259G>C c.(2257-2259)GTG>GTC p.V753V GRM1_uc010khv.1_Silent_p.V753V|GRM1_uc003qll.2_Silent_p.V753V|GRM1_uc011edz.1_Silent_p.V753V|GRM1_uc011eea.1_Silent_p.V753V NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 753 Helical; Name=5; (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) ACCTGGGTGTGGTGGCCCCTT 0.512 NA 52 84 0 0 0.00361 0 0 CLDN20 49861 broad.mit.edu 37 6 155597138 155597138 + Missense_Mutation SNP C C G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr6:155597138C>G uc003qql.1 + 2 665 c.285C>G c.(283-285)ATC>ATG p.I95M TFB1M_uc003qqj.3_Intron|TFB1M_uc003qqk.2_Intron NM_001001346 NP_001001346 P56880 CLD20_HUMAN claudin 20 95 Helical; (Potential). calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity 0 OV - Ovarian serous cystadenocarcinoma(155;7.82e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0114) CTTTGGGGATCTGCACTTCCA 0.542 NA 3 75 0 0 0.004672 0 0 T 6862 broad.mit.edu 37 6 166571970 166571970 + Missense_Mutation SNP C C T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr6:166571970C>T uc003quu.1 - 9 1634 c.1141G>A c.(1141-1143)GCG>ACG p.A381T T_uc003qut.1_Missense_Mutation_p.A382T|T_uc003quv.1_Missense_Mutation_p.A323T NM_003181 NP_003172 O15178 BRAC_HUMAN transcription factor T 381 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) GTGTAGTGCGCGGGGGAGCCC 0.711 NA Chordoma_Familial_Clustering_of 4 53 0 0 0.000248 0 0 RPS6KA2 6196 broad.mit.edu 37 6 166872949 166872949 + Missense_Mutation SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr6:166872949G>A uc003qvb.1 - 12 1282 c.1063C>T c.(1063-1065)CGG>TGG p.R355W RPS6KA2_uc011ego.1_Missense_Mutation_p.R266W|RPS6KA2_uc010kkl.1_Missense_Mutation_p.R266W|RPS6KA2_uc003qvc.1_Missense_Mutation_p.R363W|RPS6KA2_uc003qvd.1_Missense_Mutation_p.R380W NM_021135 NP_066958 Q15349 KS6A2_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 355 AGC-kinase C-terminal. axon guidance|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|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 cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1) 8 Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05) GTGGGCGTCCGCGCTGTGAAC 0.552 NA 4 20 0 0 0.000248 0 0 COX19 90639 broad.mit.edu 37 7 1012907 1012907 + Missense_Mutation SNP T T C TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr7:1012907T>C uc003sjp.1 - 2 194 c.104A>G c.(103-105)GAG>GGG p.E35G ADAP1_uc010ksc.2_5'UTR NM_001031617 NP_001026788 Q49B96 COX19_HUMAN COX19 cytochrome c oxidase assembly homolog 35 CHCH. cytosol 0 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;2.15e-15) CATGAATTTCTCTTTAAAGCT 0.363 NA 8 64 0 0 0.00308 0 0 COL28A1 340267 broad.mit.edu 37 7 7480482 7480482 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr7:7480482C>A uc003src.1 - 21 1778 c.1661G>T c.(1660-1662)GGC>GTC p.G554V COL28A1_uc011jxe.1_Missense_Mutation_p.G237V|COL28A1_uc003srd.2_Missense_Mutation_p.G109V NM_001037763 NP_001032852 Q2UY09 COSA1_HUMAN collagen, type XXVIII precursor 554 Collagen-like 5. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity skin(3) 3 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) CCCTTTCTTGCCTTCGTCACC 0.443 NA 15 50 4.7546e-09 7.25382e-09 0.004007 1 0 GLCCI1 113263 broad.mit.edu 37 7 8110750 8110750 + Missense_Mutation SNP A A T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr7:8110750A>T uc003srk.2 + 6 1725 c.1166A>T c.(1165-1167)GAT>GTT p.D389V NM_138426 NP_612435 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 389 0 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) TTGCTCTATGATCGTGATAAA 0.443 NA 19 88 0 0 0.001216 0 0 TWIST1 7291 broad.mit.edu 37 7 19156565 19156565 + Missense_Mutation SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr7:19156565G>A uc003sum.2 - 1 731 c.380C>T c.(379-381)GCG>GTG p.A127V NM_000474 NP_000465 Q15672 TWST1_HUMAN twist 127 Helix-loop-helix motif. aortic valve morphogenesis|cellular response to hypoxia|embryonic camera-type eye formation|embryonic cranial skeleton morphogenesis|eyelid development in camera-type eye|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of histone phosphorylation|negative regulation of osteoblast differentiation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of cell motility|positive regulation of epithelial to mesenchymal transition|positive regulation of fatty acid beta-oxidation|positive regulation of monocyte chemotactic protein-1 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of tumor necrosis factor production|regulation of bone mineralization nucleus bHLH transcription factor binding|E-box binding|sequence-specific DNA binding RNA polymerase II transcription factor activity 0 CGCGGCGAACGCCTCGTTCAG 0.597 NA Saethre-Chotzen_syndrome 4 25 0 0 0.000602 0 0 PDE1C 5137 broad.mit.edu 37 7 31917643 31917643 + Silent SNP A A G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr7:31917643A>G uc003tcm.1 - 5 901 c.432T>C c.(430-432)TAT>TAC p.Y144Y PDE1C_uc003tcn.1_Silent_p.Y144Y|PDE1C_uc003tco.1_Silent_p.Y204Y|PDE1C_uc003tcr.2_Silent_p.Y144Y|PDE1C_uc003tcs.2_Silent_p.Y144Y NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C 144 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) ATGTCCGTCTATACATTCTGA 0.348 NA 26 28 0 0 0.00632 0 0 VPS41 27072 broad.mit.edu 37 7 38783118 38783118 + Missense_Mutation SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr7:38783118G>A uc003tgy.2 - 24 2032 c.2006C>T c.(2005-2007)GCC>GTC p.A669V VPS41_uc003tgz.2_Missense_Mutation_p.A644V|VPS41_uc010kxn.2_Missense_Mutation_p.A580V|VPS41_uc003tgx.2_RNA NM_014396 NP_055211 P49754 VPS41_HUMAN vacuolar protein sorting 41 isoform 1 669 Clathrin. Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 CATCTTCAGGGCACTTCGGCT 0.368 NA 4 103 0 0 0.000602 0 0 ABCA13 154664 broad.mit.edu 37 7 48314884 48314884 + Nonsense_Mutation SNP C C G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr7:48314884C>G uc003toq.2 + 17 5646 c.5621C>G c.(5620-5622)TCA>TGA p.S1874* ABCA13_uc010kyr.2_Nonsense_Mutation_p.S1377* NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 1874 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 TCACCATGTTCAAATGAAAGC 0.423 NA 9 69 0 0 0.006214 0 0 GBAS 2631 broad.mit.edu 37 7 56049250 56049250 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr7:56049250G>T uc003tre.1 + 4 371 c.363G>T c.(361-363)CAG>CAT p.Q121H GBAS_uc003trf.1_Missense_Mutation_p.R106M NM_001483 NP_001474 O75323 NIPS2_HUMAN nipsnap homolog 2 121 integral to plasma membrane|membrane fraction|mitochondrion protein binding central_nervous_system(1) 1 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) ATGGCGAGCAGGACCAAGCTG 0.398 NA 43 98 8.69298e-16 1.48844e-15 0.006999 1 0 CLDN4 1364 broad.mit.edu 37 7 73245707 73245707 + Missense_Mutation SNP C C T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr7:73245707C>T uc003tzi.3 + 1 515 c.176C>T c.(175-177)ACC>ATC p.T59I RFC2_uc011kfa.1_Intron|CLDN4_uc003tzh.1_RNA NM_001305 NP_001296 O14493 CLD4_HUMAN claudin 4 59 Extracellular (Potential). calcium-independent cell-cell adhesion integral to plasma membrane|tight junction identical protein binding|structural molecule activity|transmembrane receptor activity 0 Lung NSC(55;0.159) GTGCAGAGCACCGGCCAGATG 0.642 NA 10 47 0 0 0.000978 0 0 SAMD9 54809 broad.mit.edu 37 7 92730825 92730825 + Missense_Mutation SNP C C A rs149966534 TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr7:92730825C>A uc003umf.2 - 3 4842 c.4586G>T c.(4585-4587)CGT>CTT p.R1529L SAMD9_uc003umg.2_Missense_Mutation_p.R1529L NM_017654 NP_060124 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1529 cytoplasm ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) ACCTTGTAAACGAAGCAAAAG 0.368 NA 19 60 3.32936e-07 4.67485e-07 0.006122 1 0 DLX5 1749 broad.mit.edu 37 7 96650227 96650227 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr7:96650227G>T uc003uon.2 - 3 899 c.691C>A c.(691-693)CGC>AGC p.R231S NM_005221 NP_005212 P56178 DLX5_HUMAN distal-less homeobox 5 231 cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(1) 1 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) CTGAGCGAGCGGGACGAGCCC 0.657 NA 15 30 6.81908e-15 1.15924e-14 0.00245 1 0 TRRAP 8295 broad.mit.edu 37 7 98592340 98592340 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr7:98592340G>T uc003upp.2 + 66 10345 c.10136G>T c.(10135-10137)GGG>GTG p.G3379V TRRAP_uc011kis.1_Missense_Mutation_p.G3350V|TRRAP_uc003upr.2_Missense_Mutation_p.G3085V NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 3379 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) AGCACGTTTGGGGTGGGCCTG 0.562 NA 60 167 2.50483e-33 5.00965e-33 0.00361 1 0 STAG3 10734 broad.mit.edu 37 7 99809101 99809101 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr7:99809101C>A uc003utx.1 + 31 3609 c.3454C>A c.(3454-3456)CCA>ACA p.P1152T STAG3_uc011kjk.1_Missense_Mutation_p.P1094T|GATS_uc003uty.3_RNA|GATS_uc003utz.3_Intron|GATS_uc003uua.3_Intron|GATS_uc010lgt.2_Intron|STAG3_uc003uub.1_Missense_Mutation_p.P377T|GATS_uc011kjl.1_RNA|GATS_uc010lgu.2_RNA NM_012447 NP_036579 Q9UJ98 STAG3_HUMAN stromal antigen 3 1152 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GTTCTTGGGTCCACAATATTT 0.507 NA 33 121 9.80977e-26 1.88284e-25 0.004289 1 0 MUC17 140453 broad.mit.edu 37 7 100683794 100683794 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr7:100683794G>T uc003uxp.1 + 3 9150 c.9097G>T c.(9097-9099)GGT>TGT p.G3033C MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3033 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|49. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) AACTGCTGAAGGTACCGGCAT 0.522 NA 13 573 1.05317e-09 1.62763e-09 0.00245 1 0 MUC17 140453 broad.mit.edu 37 7 100684511 100684511 + Missense_Mutation SNP C C T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr7:100684511C>T uc003uxp.1 + 3 9867 c.9814C>T c.(9814-9816)CCA>TCA p.P3272S MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3272 Extracellular (Potential).|Ser-rich.|53.|59 X approximate tandem repeats. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) TACCAGCATGCCAACCTCAAC 0.502 NA 6 648 0 0 0.001168 0 0 SLC26A5 375611 broad.mit.edu 37 7 103018234 103018234 + Missense_Mutation SNP C C T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr7:103018234C>T uc003vbz.2 - 18 2034 c.1798G>A c.(1798-1800)GAT>AAT p.D600N SLC26A5_uc003vbt.1_Missense_Mutation_p.D600N|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Missense_Mutation_p.D568N|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA NM_198999 NP_945350 P58743 S26A5_HUMAN prestin isoform a 600 Cytoplasmic (Potential).|STAS. regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity ovary(1) 1 TCCTCTCCATCTACTTCTGCA 0.363 NA 21 72 0 0 0.002299 0 0 RELN 5649 broad.mit.edu 37 7 103206713 103206713 + Missense_Mutation SNP A A T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr7:103206713A>T uc003vca.2 - 33 5054 c.4894T>A c.(4894-4896)TGT>AGT p.C1632S RELN_uc010liz.2_Missense_Mutation_p.C1632S NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1632 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) ATAGAGAGACAGTCAATATCA 0.363 NSCLC(146;835 1944 15585 22231 52158) NA 15 58 0 0 0.006122 0 0 PUS7 54517 broad.mit.edu 37 7 105108805 105108805 + Missense_Mutation SNP C C T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr7:105108805C>T uc003vcx.2 - 12 1723 c.1504G>A c.(1504-1506)GGG>AGG p.G502R PUS7_uc010lji.2_Missense_Mutation_p.G508R|PUS7_uc003vcy.2_Missense_Mutation_p.G502R|PUS7_uc003vcz.1_Missense_Mutation_p.G502R NM_019042 NP_061915 Q96PZ0 PUS7_HUMAN pseudouridylate synthase 7 homolog 502 TRUD. pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(1) 1 ACGAGGTCCCCTGGAACAGGT 0.408 Colon(138;2387 3051 17860) NA 52 183 0 0 0.00361 0 0 EIF3IP1 442720 broad.mit.edu 37 7 109599684 109599684 + Silent SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr7:109599684G>T uc003vfp.1 - 1 587 c.414C>A c.(412-414)TCC>TCA p.S138S NR_003024 Homo sapiens eukaryotic translation initiation factor 3, subunit I pseudogene 1 (EIF3IP1), non-coding RNA. 0 TAATCTGCTAGGAGTGCTCCT 0.478 NA 11 43 2.27111e-07 3.20786e-07 0.001368 1 0 ARF5 381 broad.mit.edu 37 7 127231284 127231284 + Silent SNP C C T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr7:127231284C>T uc003vmb.1 + 6 510 c.474C>T c.(472-474)ACC>ACT p.T158T FSCN3_uc003vmc.1_5'Flank|FSCN3_uc011kog.1_5'Flank|FSCN3_uc011koh.1_5'Flank|FSCN3_uc003vmd.1_5'Flank|FSCN3_uc010llc.1_5'Flank NM_001662 NP_001653 P84085 ARF5_HUMAN ADP-ribosylation factor 5 158 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport Golgi apparatus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding ovary(1) 1 TCCAGGCCACCTGTGCCACCC 0.572 NA 13 25 0 0 0.00245 0 0 KLHDC10 23008 broad.mit.edu 37 7 129765721 129765721 + Missense_Mutation SNP T T A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr7:129765721T>A uc003vpj.1 + 7 1016 c.881T>A c.(880-882)CTT>CAT p.L294H KLHDC10_uc003vpk.1_Missense_Mutation_p.L265H|KLHDC10_uc010lmb.1_Missense_Mutation_p.L191H NM_014997 NP_055812 Q6PID8 KLD10_HUMAN kelch domain containing 10 294 Kelch 4. 0 GCATACAACCTTGAAACGAAT 0.264 NA 12 48 0 0 0.00245 0 0 CPA2 1358 broad.mit.edu 37 7 129916550 129916550 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr7:129916550C>A uc003vpq.2 + 7 687 c.668C>A c.(667-669)CCT>CAT p.P223H CPA2_uc011kpc.1_Missense_Mutation_p.P223H NM_001869 NP_001860 P48052 CBPA2_HUMAN carboxypeptidase A2 (pancreatic) precursor 223 proteolysis|vacuolar protein catabolic process extracellular region|vacuole metallocarboxypeptidase activity|zinc ion binding ovary(1) 1 Melanoma(18;0.0435) GTCACAAACCCTGATGGATAC 0.423 NA 30 93 5.60225e-13 9.10126e-13 0.001786 1 0 MGAM 8972 broad.mit.edu 37 7 141738391 141738391 + Silent SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr7:141738391C>A uc003vwy.2 + 19 2346 c.2292C>A c.(2290-2292)CTC>CTA p.L764L NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 764 Lumenal (Potential).|Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GGCCCGGCCTCCTCATCACTC 0.498 NA 8 22 0.00307968 0.00379774 0.00308 1 0 TRPV6 55503 broad.mit.edu 37 7 142575519 142575519 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr7:142575519C>A uc003wbx.1 - 3 450 c.234G>T c.(232-234)ATG>ATT p.M78I TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_5'UTR NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, 78 Cytoplasmic (Potential).|ANK 2. regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding ovary(2) 2 Melanoma(164;0.059) CTGTTTCCCCCATGGCTCCTG 0.572 NA 32 98 1.61788e-16 2.8004e-16 0.002445 1 0 CLCN1 1180 broad.mit.edu 37 7 143043748 143043748 + Silent SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr7:143043748C>A uc003wcr.1 + 19 2448 c.2361C>A c.(2359-2361)ACC>ACA p.T787T CLCN1_uc011ktc.1_Silent_p.T399T NM_000083 NP_000074 P35523 CLCN1_HUMAN chloride channel 1, skeletal muscle 787 Cytoplasmic (By similarity). 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) AGAAAACAACCCAGGTGAGAG 0.547 NA 26 93 1.32003e-05 1.73573e-05 0.005443 1 0 CNTNAP2 26047 broad.mit.edu 37 7 146997239 146997239 + Missense_Mutation SNP G G C TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr7:146997239G>C uc003weu.1 + 9 1871 c.1355G>C c.(1354-1356)GGG>GCG p.G452A NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 452 Extracellular (Potential).|Laminin G-like 2. 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) CCAGGTTCTGGGTTGAATGAT 0.373 NA HNSCC(39;0.1) 3 73 0 0 0.004672 0 0 GIMAP1 170575 broad.mit.edu 37 7 150417162 150417162 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr7:150417162C>A uc003whq.2 + 3 157 c.70C>A c.(70-72)CAG>AAG p.Q24K GIMAP1_uc003whp.2_Missense_Mutation_p.Q32K NM_130759 NP_570115 Q8WWP7 GIMA1_HUMAN GTPase, IMAP family member 1 24 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane GTP binding ovary(1)|breast(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCAGTCCCGGCAGGAGTCCAC 0.532 NA 82 219 5.10314e-47 1.04702e-46 0.00361 1 0 RP1L1 94137 broad.mit.edu 37 8 10465877 10465877 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr8:10465877C>A uc003wtc.2 - 4 5960 c.5731G>T c.(5731-5733)GCA>TCA p.A1911S NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1911 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) TCCTTTTCTGCCTCCGGGGCT 0.597 NA 8 268 0.000157383 0.000201383 0.00308 1 0 ADAM28 10863 broad.mit.edu 37 8 24184143 24184143 + Missense_Mutation SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr8:24184143G>A uc003xdy.2 + 10 1050 c.967G>A c.(967-969)GTT>ATT p.V323I ADAM28_uc003xdx.2_Missense_Mutation_p.V323I|ADAM28_uc011kzz.1_Missense_Mutation_p.V90I|ADAM28_uc011laa.1_RNA|ADAM28_uc010lua.2_Missense_Mutation_p.V10I NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 isoform 1 323 Peptidase M12B.|Extracellular (Potential). proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding skin(3)|lung(1)|central_nervous_system(1) 5 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) TGTTGGCGTTGTTCAGGTCTG 0.279 NSCLC(193;488 2149 22258 34798 40734) NA 101 95 0 0 0.00361 0 0 KIAA0146 23514 broad.mit.edu 37 8 48309124 48309124 + Silent SNP T T A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr8:48309124T>A uc003xqd.2 + 6 723 c.714T>A c.(712-714)CCT>CCA p.P238P KIAA0146_uc011lcz.1_Intron|KIAA0146_uc011lda.1_Intron|KIAA0146_uc011ldb.1_Silent_p.P238P|KIAA0146_uc010lxs.2_5'UTR|KIAA0146_uc011ldc.1_Silent_p.P168P|KIAA0146_uc011ldd.1_Silent_p.P178P|KIAA0146_uc003xqe.2_Intron|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Intron NM_001080394 NP_001073863 Q14159 K0146_HUMAN hypothetical protein LOC23514 238 0 Lung NSC(58;0.175) TGCATACACCTCAGAAACCCA 0.373 NA 11 474 0 0 0.001855 0 0 CEBPD 1052 broad.mit.edu 37 8 48650524 48650524 + Silent SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr8:48650524G>A uc003xqh.1 - 1 203 c.159C>T c.(157-159)TAC>TAT p.Y53Y KIAA0146_uc003xqg.1_Intron NM_005195 NP_005186 P49716 CEBPD_HUMAN CCAAT/enhancer binding protein delta 53 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(86;0.0782)|Lung NSC(58;0.00363)|all_epithelial(80;0.0042)|all_lung(54;0.00914) TCTCGTCGTCGTACATGGCGG 0.726 GBM(26;131 685 21356 28665) NA 4 61 0 0 0.000602 0 0 NSMAF 8439 broad.mit.edu 37 8 59511849 59511849 + Missense_Mutation SNP C C G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr8:59511849C>G uc003xtt.2 - 19 1741 c.1527G>C c.(1525-1527)TGG>TGC p.W509C NSMAF_uc011lee.1_Missense_Mutation_p.W540C NM_003580 NP_003571 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation 509 BEACH. ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity ovary(1) 1 all_lung(136;0.174)|Lung NSC(129;0.2) TTAGATCAATCCACTCGTGAA 0.373 NA 36 336 0 0 0.005524 0 0 CSPP1 79848 broad.mit.edu 37 8 68031019 68031019 + Missense_Mutation SNP A A G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr8:68031019A>G uc003xxi.2 + 15 1781 c.1750A>G c.(1750-1752)AGT>GGT p.S584G CSPP1_uc003xxg.1_Missense_Mutation_p.S576G|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.S549G|CSPP1_uc003xxk.2_Missense_Mutation_p.S255G NM_001077204 NP_001070672 Q1MSJ5 CSPP1_HUMAN centrosome spindle pole associated protein 1 584 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) AGCTTATGTTAGTGCTCCTGT 0.279 NA 11 97 0 0 0.003163 0 0 EYA1 2138 broad.mit.edu 37 8 72156924 72156924 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr8:72156924G>T uc003xys.3 - 11 1341 c.1054C>A c.(1054-1056)CCA>ACA p.P352T EYA1_uc003xyr.3_Intron|EYA1_uc003xyt.3_Missense_Mutation_p.P319T|EYA1_uc010lzf.2_Missense_Mutation_p.P279T|EYA1_uc003xyu.2_Missense_Mutation_p.P352T|EYA1_uc011lfe.1_Missense_Mutation_p.P346T|EYA1_uc003xyv.2_Missense_Mutation_p.P230T NM_172058 NP_742055 Q99502 EYA1_HUMAN eyes absent 1 isoform b 352 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) GAAGTGGGTGGATCCTAAAAT 0.373 NA 13 37 7.03913e-09 1.06032e-08 0.001368 1 0 PI15 51050 broad.mit.edu 37 8 75757410 75757410 + Missense_Mutation SNP A A C TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr8:75757410A>C uc003yal.2 + 4 619 c.440A>C c.(439-441)AAA>ACA p.K147T uc003yak.1_Intron|PI15_uc003yam.2_Missense_Mutation_p.K147T NM_015886 NP_056970 O43692 PI15_HUMAN protease inhibitor 15 preproprotein 147 extracellular region peptidase inhibitor activity central_nervous_system(2)|ovary(1) 3 Breast(64;0.137) BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118) GATGAAGTGAAAGATTATGCT 0.398 NA 9 309 0 0 0.004482 0 0 ZFHX4 79776 broad.mit.edu 37 8 77766034 77766034 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr8:77766034G>T uc003yav.2 + 10 7129 c.6742G>T c.(6742-6744)GAT>TAT p.D2248Y ZFHX4_uc003yau.1_Missense_Mutation_p.D2293Y|ZFHX4_uc003yaw.1_Missense_Mutation_p.D2248Y NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2248 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) AGAAACAAAAGATAATGAAAA 0.408 NA HNSCC(33;0.089) 31 54 8.58068e-18 1.50716e-17 0.007291 1 0 ZFHX4 79776 broad.mit.edu 37 8 77766282 77766282 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr8:77766282C>A uc003yav.2 + 10 7377 c.6990C>A c.(6988-6990)AAC>AAA p.N2330K ZFHX4_uc003yau.1_Missense_Mutation_p.N2375K|ZFHX4_uc003yaw.1_Missense_Mutation_p.N2330K NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2330 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.N2359N(1) ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CAGCTAAAAACGCTGCTGCCC 0.507 NA HNSCC(33;0.089) 85 196 1.8615e-32 3.70742e-32 0.00361 1 0 ODF1 4956 broad.mit.edu 37 8 103572936 103572936 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr8:103572936G>T uc003ykt.2 + 2 685 c.577G>T c.(577-579)GGC>TGC p.G193C NM_024410 NP_077721 Q14990 ODFP1_HUMAN outer dense fiber of sperm tails 1 193 cell differentiation|multicellular organismal development|spermatogenesis outer dense fiber structural molecule activity ovary(2) 2 all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826) CTATGGGCTCGGCAGCTGTGT 0.368 NA 21 84 1.2644e-06 1.73446e-06 0.001523 1 0 RIMS2 9699 broad.mit.edu 37 8 104973292 104973292 + Splice_Site SNP G G C TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr8:104973292G>C uc003yls.2 + 13 2277 c.2036_splice c.e13-1 p.R679_splice RIMS2_uc003ylp.2_Splice_Site_p.R901_splice|RIMS2_uc003ylw.2_Splice_Site_p.R693_splice|RIMS2_uc003ylq.2_Splice_Site_p.R693_splice|RIMS2_uc003ylr.2_Splice_Site_p.R740_splice|RIMS2_uc003ylt.2_Splice_Site_p.R286_splice NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 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) TTACTTTATAGGGTCAAAGAG 0.294 NA HNSCC(12;0.0054) 92 262 0 0 0.00361 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110523010 110523010 + Silent SNP A A T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr8:110523010A>T uc003yne.2 + 71 11504 c.11400A>T c.(11398-11400)CCA>CCT p.P3800P NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 3800 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATTTAGGCCCACAGGATCATG 0.373 NA HNSCC(38;0.096) 38 487 0 0 0.002852 0 0 HAS2 3037 broad.mit.edu 37 8 122641478 122641478 + Nonsense_Mutation SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr8:122641478G>A uc003yph.2 - 2 641 c.103C>T c.(103-105)CAG>TAG p.Q35* NM_005328 NP_005319 Q92819 HAS2_HUMAN hyaluronan synthase 2 35 Extracellular (Potential). integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) soft_tissue(10)|ovary(5) 15 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) TGGATAAACTGGTAGCCAACA 0.418 NA 8 149 0 0 0.00308 0 0 FER1L6 654463 broad.mit.edu 37 8 124992922 124992922 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr8:124992922G>T uc003yqw.2 + 11 1487 c.1281G>T c.(1279-1281)AAG>AAT p.K427N NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 427 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) TGCCTTCCAAGGACAAAGACT 0.458 NA OREG0018964 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 200 2.80697e-09 4.29621e-09 0.000978 1 0 CYP11B2 1585 broad.mit.edu 37 8 143996605 143996605 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr8:143996605G>T uc003yxk.1 - 3 455 c.452C>A c.(451-453)CCC>CAC p.P151H NM_000498 NP_000489 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, 151 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity 0 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) CACGGCCTTGGGCGACAGCAC 0.637 NA Familial_Hyperaldosteronism_type_I 34 41 1.36615e-20 2.48201e-20 0.002836 1 0 SCRIB 23513 broad.mit.edu 37 8 144876106 144876106 + Silent SNP C C T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr8:144876106C>T uc003yzp.1 - 28 3880 c.3873G>A c.(3871-3873)AAG>AAA p.K1291K SCRIB_uc003yzn.1_5'UTR|SCRIB_uc003yzo.1_Silent_p.K1291K NM_015356 NP_056171 Q14160 SCRIB_HUMAN scribble isoform b 1291 activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1) 5 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;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) ATTCAGCCATCTTCCCTCCAG 0.662 Pancreas(51;966 1133 10533 14576 29674) NA 7 80 0 0 0.00308 0 0 CYC1 1537 broad.mit.edu 37 8 145151255 145151255 + Missense_Mutation SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr8:145151255G>A uc003zaz.3 + 4 512 c.469G>A c.(469-471)GGC>AGC p.G157S CYC1_uc003zay.2_Missense_Mutation_p.G98S NM_001916 NP_001907 P08574 CY1_HUMAN cytochrome c-1 157 Cytochrome c. respiratory electron transport chain|transport cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding 0 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GGTTCAAGACGGCCCCAATGA 0.587 NA OREG0019052 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 283 0 0 0.005524 0 0 MAF1 84232 broad.mit.edu 37 8 145161786 145161786 + Missense_Mutation SNP G G C TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr8:145161786G>C uc003zbc.1 + 7 1170 c.669G>C c.(667-669)GAG>GAC p.E223D SHARPIN_uc003zba.2_5'Flank|SHARPIN_uc003zbb.2_5'Flank|KIAA1875_uc003zbd.3_5'Flank|KIAA1875_uc011lky.1_5'Flank NM_032272 NP_115648 Q9H063 MAF1_HUMAN MAF1 protein 223 negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent cytoplasm|nucleus 0 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TGGACATGGAGCTGGGGGAGG 0.637 NA 4 48 0 0 0.000248 0 0 SMARCA2 6595 broad.mit.edu 37 9 2047450 2047450 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr9:2047450G>T uc003zhc.2 + 5 1111 c.1012G>T c.(1012-1014)GAC>TAC p.D338Y SMARCA2_uc003zhd.2_Missense_Mutation_p.D338Y|SMARCA2_uc010mha.2_Missense_Mutation_p.D329Y NM_003070 NP_003061 P51531 SMCA2_HUMAN SWI/SNF-related matrix-associated 338 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) GCAAGGCCTGGACCCCGTGGA 0.697 NA 9 18 1.76689e-08 2.63649e-08 0.006214 1 0 FREM1 158326 broad.mit.edu 37 9 14846066 14846066 + Missense_Mutation SNP A A T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr9:14846066A>T uc003zlm.2 - 8 1875 c.1285T>A c.(1285-1287)TCT>ACT p.S429T FREM1_uc010mic.2_RNA NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 429 CSPG 2. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) ATGGCTCGAGACTGCCCCTCA 0.408 NA 6 11 0 0 0.001168 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18905849 18905849 + Missense_Mutation SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr9:18905849G>A uc003zne.3 + 27 5048 c.4921G>A c.(4921-4923)GGC>AGC p.G1641S ADAMTSL1_uc003znf.3_Missense_Mutation_p.G342S|ADAMTSL1_uc003zng.1_Missense_Mutation_p.G32S NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 1641 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) GACACGGGATGGCATCACCTT 0.527 NA 9 16 0 0 0.000673 0 0 ALDH1B1 219 broad.mit.edu 37 9 38396338 38396338 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr9:38396338C>A uc004aay.2 + 2 705 c.593C>A c.(592-594)CCG>CAG p.P198Q NM_000692 NP_000683 P30837 AL1B1_HUMAN aldehyde dehydrogenase 1B1 precursor 198 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity skin(1) 1 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) AAACTTGCCCCGGCACTCGCC 0.597 NA 28 72 1.39806e-14 2.35984e-14 0.001512 1 0 C9orf71 169693 broad.mit.edu 37 9 71152351 71152351 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr9:71152351G>T uc004agt.2 - 2 390 c.337C>A c.(337-339)CCT>ACT p.P113T uc004ags.1_RNA NM_153237 NP_694969 Q8N6L7 CI071_HUMAN hypothetical protein LOC169693 113 integral to membrane 0 CTCTCTGCAGGACAGCTCTGC 0.527 NA 15 60 1.99824e-07 2.84779e-07 0.00499 1 0 APBA1 320 broad.mit.edu 37 9 72130971 72130971 + Missense_Mutation SNP T T C TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr9:72130971T>C uc004ahh.2 - 2 1432 c.1156A>G c.(1156-1158)AGC>GGC p.S386G NM_001163 NP_001154 Q02410 APBA1_HUMAN amyloid beta A4 precursor protein-binding, 386 LIN-2/CASK binding.|Pro-rich. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle lung(1) 1 CTGGTGGGGCTAATGTCCTGG 0.622 NA 3 136 0 0 0.000248 0 0 TRPM3 80036 broad.mit.edu 37 9 73399097 73399097 + Missense_Mutation SNP G G C TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr9:73399097G>C uc004aid.2 - 7 1316 c.1072C>G c.(1072-1074)CCA>GCA p.P358A TRPM3_uc004ahu.2_Missense_Mutation_p.P188A|TRPM3_uc004ahv.2_Missense_Mutation_p.P188A|TRPM3_uc004ahw.2_Missense_Mutation_p.P230A|TRPM3_uc004ahx.2_Missense_Mutation_p.P205A|TRPM3_uc004ahy.2_Missense_Mutation_p.P230A|TRPM3_uc004ahz.2_Missense_Mutation_p.P205A|TRPM3_uc004aia.2_Missense_Mutation_p.P205A|TRPM3_uc004aib.2_Missense_Mutation_p.P205A|TRPM3_uc004aic.2_Missense_Mutation_p.P358A|TRPM3_uc010mor.2_Missense_Mutation_p.P358A|TRPM3_uc004aie.2_Missense_Mutation_p.P205A|TRPM3_uc004aif.2_Missense_Mutation_p.P230A|TRPM3_uc004aig.2_Missense_Mutation_p.P205A NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 383 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 ACAACCACTGGCACGGGAGGG 0.542 NA 20 74 0 0 0.001216 0 0 TRPM6 140803 broad.mit.edu 37 9 77353458 77353458 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr9:77353458C>A uc004ajl.1 - 36 5879 c.5641G>T c.(5641-5643)GGG>TGG p.G1881W TRPM6_uc004ajk.1_Missense_Mutation_p.G1876W|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.G832W|TRPM6_uc010mpd.1_Missense_Mutation_p.G714W|TRPM6_uc010mpe.1_Missense_Mutation_p.G428W|TRPM6_uc004ajj.1_Missense_Mutation_p.G837W NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 1881 Alpha-type protein kinase.|Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 CGGAACTCCCCTGTCATATAC 0.468 NA 11 64 2.27111e-07 3.20786e-07 0.001368 1 0 PCSK5 5125 broad.mit.edu 37 9 78686767 78686767 + Missense_Mutation SNP G G C TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr9:78686767G>C uc004ajz.2 + 7 1385 c.847G>C c.(847-849)GGA>CGA p.G283R PCSK5_uc004ajy.2_Missense_Mutation_p.G283R|PCSK5_uc004aka.2_RNA NM_006200 NP_006191 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 283 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 GACTGTGGACGGACCAGCCCC 0.527 NA 47 199 0 0 0.00361 0 0 LPPR1 54886 broad.mit.edu 37 9 104071741 104071741 + Missense_Mutation SNP A A G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr9:104071741A>G uc004bbb.2 + 5 1033 c.634A>G c.(634-636)ACG>GCG p.T212A LPPR1_uc011lvi.1_Missense_Mutation_p.T188A|LPPR1_uc004bbc.2_Missense_Mutation_p.T212A|LPPR1_uc010mtc.2_Missense_Mutation_p.T196A NM_207299 NP_997182 Q8TBJ4 LPPR1_HUMAN plasticity related gene 3 212 Helical; (Potential). integral to membrane catalytic activity 0 CTTATATGCCACGGTGAGTGT 0.483 NA 16 52 0 0 0.007413 0 0 RAD23B 5887 broad.mit.edu 37 9 110068802 110068802 + Missense_Mutation SNP C C A rs111972101 TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr9:110068802C>A uc004bde.2 + 4 738 c.371C>A c.(370-372)GCA>GAA p.A124E RAD23B_uc011lwa.1_Missense_Mutation_p.A124E|RAD23B_uc011lwb.1_Missense_Mutation_p.A103E NM_002874 NP_002865 P54727 RD23B_HUMAN UV excision repair protein RAD23 homolog B 124 nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process cytoplasm|nucleoplasm|proteasome complex|XPC complex damaged DNA binding|polyubiquitin binding|single-stranded DNA binding ovary(1) 1 TCCACACCTGCATCCATCACT 0.567 NA Direct_reversal_of_damage|NER 11 91 5.50884e-06 7.36575e-06 0.001368 1 0 NUP188 23511 broad.mit.edu 37 9 131743636 131743636 + Missense_Mutation SNP C C T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr9:131743636C>T uc004bws.1 + 15 1505 c.1483C>T c.(1483-1485)CGG>TGG p.R495W NM_015354 NP_056169 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 495 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 AACTCTTTGGCGGAGACAAAC 0.348 NA 5 166 0 0 0.000602 0 0 NUP214 8021 broad.mit.edu 37 9 134073549 134073549 + Silent SNP T T C TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr9:134073549T>C uc004cag.2 + 29 4779 c.4668T>C c.(4666-4668)TCT>TCC p.S1556S NUP214_uc004cah.2_Silent_p.S1546S|NUP214_uc004cai.2_Silent_p.S986S|NUP214_uc010mzg.2_RNA|NUP214_uc011mcg.1_Silent_p.S382S|NUP214_uc011mcf.1_Silent_p.S333S|NUP214_uc010mzh.1_Silent_p.S70S|NUP214_uc010mzi.1_Silent_p.S70S NM_005085 NP_005076 P35658 NU214_HUMAN nucleoporin 214kDa 1556 Pro/Ser/Thr-rich.|11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1) 16 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) CTGCAGCATCTAGTACTAGTC 0.562 Pancreas(4;24 48 25510 30394 32571) NA T DEK|SET|ABL1 AML|T-ALL 3 88 0 0 0.004672 0 0 CACNA1B 774 broad.mit.edu 37 9 140809117 140809117 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr9:140809117G>T uc004cog.2 + 5 779 c.634G>T c.(634-636)GTG>TTG p.V212L NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 212 Cytoplasmic (Potential).|I. membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity breast(3)|large_intestine(2)|ovary(1) 6 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TTTGCAGGTGGTGCTCAAGTC 0.557 NA 11 23 1.08611e-07 1.5619e-07 0.000978 1 0 DMD 1756 broad.mit.edu 37 X 32663166 32663166 + Missense_Mutation SNP A A C TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chrX:32663166A>C uc004dda.1 - 10 1308 c.1064T>G c.(1063-1065)CTT>CGT p.L355R DMD_uc004dcz.2_Missense_Mutation_p.L232R|DMD_uc004dcy.1_Missense_Mutation_p.L351R|DMD_uc004ddb.1_Missense_Mutation_p.L347R|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.L347R|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron|DMD_uc010ngr.1_Missense_Mutation_p.L66R NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 355 Spectrin 1. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AGCAGAAAGAAGCCACGATAA 0.408 NA 13 95 0 0 0.001368 0 0 CXorf22 170063 broad.mit.edu 37 X 35974306 35974306 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chrX:35974306G>T uc004ddj.2 + 8 1462 c.1403G>T c.(1402-1404)GGT>GTT p.G468V CXorf22_uc010ngv.2_RNA NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN hypothetical protein LOC170063 468 large_intestine(1)|lung(1)|ovary(1) 3 ACTGGAGGGGGTATGGTGGTA 0.358 NA 15 8 6.31663e-08 9.25143e-08 0.003163 1 0 DGKK 139189 broad.mit.edu 37 X 50112015 50112015 + Missense_Mutation SNP T T C TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chrX:50112015T>C uc010njr.1 - 29 3800 c.3740A>G c.(3739-3741)AAT>AGT p.N1247S NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN diacylglycerol kinase kappa 1247 Required for localization to the plasma membrane. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1) 2 Ovarian(276;0.236) GTGCCATAAATTGCCTTCAGA 0.433 NA 3 31 0 0 0.000248 0 0 CXorf26 51260 broad.mit.edu 37 X 75396788 75396788 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chrX:75396788G>T uc004ecl.1 + 5 573 c.370G>T c.(370-372)GAT>TAT p.D124Y NM_016500 NP_057584 Q9BVG4 CX026_HUMAN hypothetical protein LOC51260 124 0 GCTGCGACTAGATTGTTCTCA 0.423 NA 29 23 3.90053e-15 6.65466e-15 0.002445 1 0 TNMD 64102 broad.mit.edu 37 X 99854659 99854659 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chrX:99854659G>T uc004efy.3 + 7 1125 c.899G>T c.(898-900)TGT>TTT p.C300F TNMD_uc004efz.2_3'UTR NM_022144 NP_071427 Q9H2S6 TNMD_HUMAN tenomodulin 300 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 CGAGTCATCTGTCGTGTCATC 0.507 NA 13 8 5.50884e-06 7.36575e-06 0.001368 1 0 ODZ1 10178 broad.mit.edu 37 X 123554295 123554295 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chrX:123554295C>A uc004euj.2 - 24 4891 c.4827G>T c.(4825-4827)TGG>TGT p.W1609C ODZ1_uc011muj.1_Missense_Mutation_p.W1615C|ODZ1_uc010nqy.2_Missense_Mutation_p.W1616C NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 1609 Extracellular (Potential).|YD 3. immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 TTATAGTCAGCCAGTATACTT 0.527 NA 13 21 2.27111e-07 3.20786e-07 0.001368 1 0 ODZ1 10178 broad.mit.edu 37 X 123787580 123787580 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chrX:123787580C>A uc004euj.2 - 7 1286 c.1222G>T c.(1222-1224)GTC>TTC p.V408F ODZ1_uc011muj.1_Missense_Mutation_p.V407F|ODZ1_uc010nqy.2_Missense_Mutation_p.V408F NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 408 Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 GTCTGCATGACCTGTGCACCA 0.398 NA 4 89 0.00116845 0.00145979 0.001168 1 0 PASD1 139135 broad.mit.edu 37 X 150828215 150828215 + Missense_Mutation SNP T T G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chrX:150828215T>G uc004fev.3 + 10 1080 c.748T>G c.(748-750)TAT>GAT p.Y250D NM_173493 NP_775764 Q8IV76 PASD1_HUMAN PAS domain containing 1 250 nucleus signal transducer activity ovary(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) GGTTGAGCAGTATGGACCACA 0.393 NA 5 64 0 0 0.000602 0 0 OR10Z1 128368 broad.mit.edu 37 1 158576531 158576532 + Frame_Shift_Ins INS - - TT TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr1:158576531_158576532insTT uc010pio.1 + 1 303_304 c.303_304insTT c.(301-306)ATGTTCfs p.M101fs NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, 101_102 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1)|skin(1) 2 all_hematologic(112;0.0378) CTGCCCAGATGTTCTTTTCTGC 0.554 NA 8 362 --- --- --- --- NA NA NA NA NA LAD1 3898 broad.mit.edu 37 1 201355939 201355939 + Frame_Shift_Del DEL A A - TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr1:201355939delA uc001gwm.2 - 3 785 c.550delT c.(550-552)TCCfs p.S184fs LAD1_uc009wzu.1_Frame_Shift_Del_p.S206fs NM_005558 NP_005549 O00515 LAD1_HUMAN ladinin 1 184 basement membrane structural molecule activity 0 TTTGGCATGGAGGACTTCTCC 0.562 NA 57 135 --- --- --- --- NA NA NA NA NA NLRP10 338322 broad.mit.edu 37 11 7981515 7981515 + Frame_Shift_Del DEL A A - TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr11:7981515delA uc001mfv.1 - 2 1661 c.1644delT c.(1642-1644)TTTfs p.F548fs NM_176821 NP_789791 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 548 ATP binding lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1) 9 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TCTGTTCTTTAAAATGCTTCA 0.393 NA 26 106 --- --- --- --- NA NA NA NA NA ARAP1 116985 broad.mit.edu 37 11 72422487 72422487 + Frame_Shift_Del DEL A A - TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr11:72422487delA uc001osu.2 - 8 1269 c.1080delT c.(1078-1080)TTTfs p.F360fs ARAP1_uc001osv.2_Frame_Shift_Del_p.F360fs|ARAP1_uc001osr.2_Frame_Shift_Del_p.F120fs|ARAP1_uc001oss.2_Frame_Shift_Del_p.F115fs|ARAP1_uc009yth.2_Frame_Shift_Del_p.F115fs|ARAP1_uc010rre.1_Frame_Shift_Del_p.F115fs NM_001040118 NP_001035207 Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 360 PH 1. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding skin(1) 1 TGTTACTGTCAAAGTATCGCA 0.567 Ovarian(102;1198 1520 13195 17913 37529) NA 37 106 --- --- --- --- NA NA NA NA NA MLL 4297 broad.mit.edu 37 11 118380757 118380758 + Frame_Shift_Ins INS - - A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr11:118380757_118380758insA uc001pta.2 + 30 11009_11010 c.10986_10987insA c.(10984-10989)GAGAAAfs p.E3662fs MLL_uc001ptb.2_Frame_Shift_Ins_p.E3665fs NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3662_3663 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) GCATTACTGAGAAAAAACCCAA 0.396 NA T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 40 85 --- --- --- --- NA NA NA NA NA MYO1H 283446 broad.mit.edu 37 12 109845649 109845649 + Frame_Shift_Del DEL G G - TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr12:109845649delG uc010sxn.1 + 9 1038 c.1038delG c.(1036-1038)ATGfs p.M346fs NM_001101421 NP_001094891 Q8N1T3 MYO1H_HUMAN myosin 1H Error:Variant_position_missing_in_B4DNW6_after_alignment myosin complex motor activity 0 GAGATGCAATGGCAAAGGCTG 0.443 NA 33 88 --- --- --- --- NA NA NA NA NA POSTN 10631 broad.mit.edu 37 13 38148759 38148759 + Frame_Shift_Del DEL G G - TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr13:38148759delG uc001uwo.3 - 17 2157 c.2039delC c.(2038-2040)CCAfs p.P680fs POSTN_uc010tet.1_Intron|POSTN_uc001uwp.3_Intron|POSTN_uc001uwr.2_Intron|POSTN_uc001uwq.2_Intron|POSTN_uc010teu.1_Intron|POSTN_uc010tev.1_Intron|POSTN_uc010tew.1_Intron NM_006475 NP_006466 Q15063 POSTN_HUMAN periostin, osteoblast specific factor isoform 1 680 cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding ovary(2) 2 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) TTTAATTTTTGGTTCCACAAC 0.269 NA 10 28 --- --- --- --- NA NA NA NA NA MAP2 4133 broad.mit.edu 37 2 210560407 210560408 + Frame_Shift_Ins INS - - T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr2:210560407_210560408insT uc002vde.1 + 7 3761_3762 c.3513_3514insT c.(3511-3516)GTGGAAfs p.V1171fs MAP2_uc002vdc.1_Frame_Shift_Ins_p.V1171fs|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Frame_Shift_Ins_p.V1167fs NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 1171_1172 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) AATTGTCAGTGGAAATACCTTG 0.441 Pancreas(27;423 979 28787 29963) NA 26 63 --- --- --- --- NA NA NA NA NA LPHN3 23284 broad.mit.edu 37 4 62453151 62453152 + Frame_Shift_Del DEL TC TC - TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 TC TC - - TC TC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr4:62453151_62453152delTC uc010ihh.2 + 2 435_436 c.262_263delTC c.(262-264)TCTfs p.S88fs LPHN3_uc003hcq.3_Frame_Shift_Del_p.S88fs|LPHN3_uc010ihg.1_Frame_Shift_Del_p.S156fs NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 88 SUEL-type lectin.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 TAAGATTATGTCTCAAAGGTAT 0.361 NA 8 25 --- --- --- --- NA NA NA NA NA TGFBI 7045 broad.mit.edu 37 5 135379758 135379758 + Frame_Shift_Del DEL A A - TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr5:135379758delA uc003lbf.3 + 3 406 c.245delA c.(244-246)TACfs p.Y82fs TGFBI_uc003lbg.3_5'UTR|TGFBI_uc003lbh.3_5'UTR|TGFBI_uc011cyb.1_5'Flank NM_000358 NP_000349 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 82 EMI. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(3)|ovary(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GTCATCAGCTACGAGTGCTGT 0.537 NA 39 160 --- --- --- --- NA NA NA NA NA PCDHGA2 56113 broad.mit.edu 37 5 140720800 140720801 + Frame_Shift_Ins INS - - A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr5:140720800_140720801insA uc003ljk.1 + 1 2447_2448 c.2262_2263insA c.(2260-2265)TCCCACfs p.S754fs PCDHGA1_uc003lji.1_Intron|PCDHGA3_uc003ljm.1_5'Flank|PCDHGA3_uc010jfx.1_5'Flank|PCDHGA2_uc011dao.1_Frame_Shift_Ins_p.S754fs|PCDHGA3_uc011dap.1_5'Flank NM_018915 NP_061738 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 isoform 1 754_755 Cytoplasmic (Potential). 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) AGACCTATTCCCACGAGGTCTC 0.599 NA 48 104 --- --- --- --- NA NA NA NA NA MYO6 4646 broad.mit.edu 37 6 76572390 76572390 + Frame_Shift_Del DEL C C - TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr6:76572390delC uc003pih.1 + 16 1903 c.1624delC c.(1624-1626)CACfs p.H542fs MYO6_uc003pig.1_Frame_Shift_Del_p.H542fs|MYO6_uc003pii.1_Frame_Shift_Del_p.H542fs NM_004999 NP_004990 Q9UM54 MYO6_HUMAN myosin VI 542 Myosin head-like. actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding kidney(1)|pancreas(1) 2 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) AAGTGATCAACACTTTACATC 0.373 NA 9 70 --- --- --- --- NA NA NA NA NA SND1 27044 broad.mit.edu 37 7 127732042 127732046 + Splice_Site DEL CAGCT CAGCT - rs113048090 TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 CAGCT CAGCT - - CAGCT CAGCT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr7:127732042_127732046delCAGCT uc003vmi.2 + 24 2894 c.2668_splice c.e24-1 p.L890_splice SND1_uc010lle.2_Splice_Site_p.L543_splice NM_014390 NP_055205 Q7KZF4 SND1_HUMAN staphylococcal nuclease domain containing 1 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 TTTTTTCTTACAGCTGAACCTGTGG 0.571 NA 18 284 --- --- --- --- NA NA NA NA NA PTN 5764 broad.mit.edu 37 7 136936041 136936041 + Frame_Shift_Del DEL G G - TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr7:136936041delG uc003vtq.2 - 4 750 c.387delC c.(385-387)GCCfs p.A129fs PTN_uc010lmx.2_Frame_Shift_Del_p.A129fs|PTN_uc003vtr.1_Frame_Shift_Del_p.A129fs NM_002825 NP_002816 P21246 PTN_HUMAN pleiotrophin 129 nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway endoplasmic reticulum|extracellular space growth factor activity|heparin binding|protein phosphatase inhibitor activity upper_aerodigestive_tract(1)|pancreas(1) 2 TCTGGCATTCGGCATTGTGCA 0.507 NA 65 303 --- --- --- --- NA NA NA NA NA PXDNL 137902 broad.mit.edu 37 8 52370103 52370103 + Frame_Shift_Del DEL C C - TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr8:52370103delC uc003xqu.3 - 9 1038 c.937delG c.(937-939)GAAfs p.E313fs NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 313 Ig-like C2-type 1. 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) GTCTTGGCTTCCCCAGCGGAA 0.428 NA 47 152 --- --- --- --- NA NA NA NA NA ANKRD20A3 441425 broad.mit.edu 37 9 67934791 67934794 + Frame_Shift_Del DEL AAAG AAAG - TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 AAAG AAAG - - AAAG AAAG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 99f819f2-4340-4303-8ff0-fdb03ef0151a e202283d-04a1-4fbc-9e8e-8b5abae14385 g.chr9:67934791_67934794delAAAG uc004aeu.2 + 4 673_676 c.561_564delAAAG c.(559-564)AAAAGGfs p.K187fs ANKRD20A3_uc010mnn.2_Frame_Shift_Del_p.K187fs NM_001012419 NP_001012419 Q5VUR7 A20A3_HUMAN ankyrin repeat domain 20 family, member A3 187_188 ANK 4. 0 TTTTATTGAAAAAGAAAGCAAGTT 0.309 NA 2 4 --- --- --- --- NA NA NA NA NA