Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample MEGF6 1953 broad.mit.edu 37 1 3407103 3407103 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr1:3407103C>T uc001akl.2 - 37 4842 c.4615G>A c.(4615-4617)GCG>ACG p.A1539T MEGF6_uc001akk.2_Missense_Mutation_p.A1227T NM_001409 NP_001400 O75095 MEGF6_HUMAN EGF-like-domain, multiple 3 precursor 1539 extracellular region calcium ion binding large_intestine(1) 1 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) TAGTGCCTCGCTGGTCCACCG 0.672 NaN 0 0 0 0.740014 0 30 58 GPR157 80045 broad.mit.edu 37 1 9164616 9164616 + Silent SNP G G C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr1:9164616G>C uc001apq.1 - 4 1013 c.870C>G c.(868-870)CTC>CTG p.L290L GPR157_uc010oad.1_Silent_p.L225L NM_024980 NP_079256 Q5UAW9 GP157_HUMAN G protein-coupled receptor 157 290 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_lung(157;0.185) all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642) AGAGAGAGAAGAGCCGAGTTC 0.612 NaN 0 0 0 0.740014 0 19 64 PRAMEF18 391003 broad.mit.edu 37 1 13475073 13475073 + Silent SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr1:13475073C>T uc009vnu.1 - 3 1103 c.1056G>A c.(1054-1056)CAG>CAA p.Q352Q NM_001099850 NP_001093320 Q5VWM3 PRA18_HUMAN PRAME family member 18 352 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) AGAAGAGGGTCTGAAGAGTGG 0.547 NaN 0 0 0 0.870114 0 145 223 LPHN2 23266 broad.mit.edu 37 1 82456786 82456786 + Missense_Mutation SNP G G C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr1:82456786G>C uc001dit.3 + 21 4350 c.4169G>C c.(4168-4170)GGA>GCA p.G1390A LPHN2_uc001dis.2_Missense_Mutation_p.G370A|LPHN2_uc001diu.2_Missense_Mutation_p.G1390A|LPHN2_uc001div.2_3'UTR|LPHN2_uc009wcd.2_3'UTR|LPHN2_uc001diw.2_Missense_Mutation_p.G1017A NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 1446 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) attccagAAGGAGATGTTAGA 0.199 NaN 0 0 0 0.335167 0 10 9 GBP6 163351 broad.mit.edu 37 1 89849217 89849217 + Missense_Mutation SNP G G C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr1:89849217G>C uc001dnf.2 + 9 1646 c.1372G>C c.(1372-1374)GAG>CAG p.E458Q GBP6_uc010ost.1_Missense_Mutation_p.E328Q NM_198460 NP_940862 Q6ZN66 GBP6_HUMAN guanylate binding protein family, member 6 458 GTP binding|GTPase activity ovary(2) 2 Lung NSC(277;0.0908) all cancers(265;0.0108)|Epithelial(280;0.0398) ATAGGCAAAAGAGGTCTTCCA 0.408 NaN 0 0 0 0.667858 0 23 24 OLFM3 118427 broad.mit.edu 37 1 102302527 102302527 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr1:102302527C>T uc001duf.2 - 2 255 c.184G>A c.(184-186)GAT>AAT p.D62N OLFM3_uc001dug.2_Missense_Mutation_p.D42N|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_5'UTR|OLFM3_uc001due.2_RNA NM_058170 NP_477518 Q96PB7 NOE3_HUMAN olfactomedin 3 62 extracellular region ovary(2)|skin(1) 3 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) CACCGCCCATCAGGATCCTGA 0.488 NaN 0 0 0 0.796494 0 36 39 PDE4DIP 9659 broad.mit.edu 37 1 144864168 144864168 + Missense_Mutation SNP T T G TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr1:144864168T>G uc001elw.3 - 36 6218 c.5927A>C c.(5926-5928)GAG>GCG p.E1976A NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.E1870A|PDE4DIP_uc001elv.3_Missense_Mutation_p.E983A|PDE4DIP_uc001ema.2_Missense_Mutation_p.E163A NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1976 Potential. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) AAGACGTTCCTCCCTGAAATG 0.448 NaN T PDGFRB MPD 0 0 0 0.870114 0 106 453 PDE4DIP 9659 broad.mit.edu 37 1 144864203 144864203 + Missense_Mutation SNP C C G TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr1:144864203C>G uc001elw.3 - 36 6183 c.5892G>C c.(5890-5892)TTG>TTC p.L1964F NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.L1858F|PDE4DIP_uc001elv.3_Missense_Mutation_p.L971F|PDE4DIP_uc001ema.2_Missense_Mutation_p.L151F NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1964 Potential. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GCTTCTCCCTCAAGTCTTCCA 0.547 NaN T PDGFRB MPD 0 0 0 0.870114 0 78 444 DENND4B 9909 broad.mit.edu 37 1 153907303 153907303 + Silent SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr1:153907303C>T uc001fdd.1 - 18 3107 c.2706G>A c.(2704-2706)CAG>CAA p.Q902Q uc001fdc.1_RNA NM_014856 NP_055671 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 902 Gln-rich. ovary(1) 1 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) gctgctgctgctgttgctgct 0.468 NaN 0 0 0 0.248553 0 5 69 TNR 7143 broad.mit.edu 37 1 175324643 175324643 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr1:175324643C>T uc001gkp.1 - 15 3326 c.3245G>A c.(3244-3246)CGC>CAC p.R1082H TNR_uc009wwu.1_Missense_Mutation_p.R1082H NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 1082 Fibronectin type-III 9. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) TCTCACCTTGCGGCTTCCATC 0.512 NaN 0 0 0 0.804634 0 35 66 KCNT2 343450 broad.mit.edu 37 1 196434452 196434452 + Silent SNP T T A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr1:196434452T>A uc001gtd.1 - 8 669 c.609A>T c.(607-609)ATA>ATT p.I203I KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Silent_p.I203I|KCNT2_uc001gtf.1_Silent_p.I203I|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Silent_p.I203I|KCNT2_uc009wyv.1_Silent_p.I178I NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 203 Helical; Name=Segment S5; (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 GTAATGTAGATATTAAAATCA 0.269 NaN 0 0 0 0.217242 0 5 68 FAM171A1 221061 broad.mit.edu 37 10 15326047 15326047 + Missense_Mutation SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr10:15326047G>A uc001iob.2 - 2 162 c.155C>T c.(154-156)GCG>GTG p.A52V NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN hypothetical protein LOC221061 precursor 52 Extracellular (Potential). integral to membrane ovary(2)|breast(1)|skin(1) 4 CTCGATGAGCGCATCTGCTAC 0.552 NaN 0 0 0 0.779181 0 33 45 SVIL 6840 broad.mit.edu 37 10 29752434 29752434 + Silent SNP G G C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr10:29752434G>C uc001iut.1 - 35 7017 c.6264C>G c.(6262-6264)CTC>CTG p.L2088L LOC387647_uc001iuo.1_Intron|LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Silent_p.L1002L|SVIL_uc001iuu.1_Silent_p.L1662L NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 2088 Gelsolin-like 5. cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) TGCAGTACTGGAGCACAGTCT 0.617 NaN 0 0 0 0.435327 0 12 43 CTNNA3 29119 broad.mit.edu 37 10 68381455 68381455 + Missense_Mutation SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr10:68381455G>A uc009xpn.1 - 10 1492 c.1369C>T c.(1369-1371)CCA>TCA p.P457S CTNNA3_uc001jmw.2_Missense_Mutation_p.P457S|CTNNA3_uc001jmx.3_Missense_Mutation_p.P457S NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 457 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 CATACCTGTGGACACAAGGTT 0.279 NaN 0 0 0 0.38729 0 11 25 PBLD 64081 broad.mit.edu 37 10 70048339 70048339 + Missense_Mutation SNP G G C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr10:70048339G>C uc001jns.1 - 8 795 c.592C>G c.(592-594)CTT>GTT p.L198V PBLD_uc001jnr.1_Missense_Mutation_p.L165V|PBLD_uc001jnt.1_Missense_Mutation_p.L198V|PBLD_uc001jnu.1_Missense_Mutation_p.L198V|PBLD_uc001jnv.1_3'UTR NM_022129 NP_071412 P30039 PBLD_HUMAN MAWD binding protein isoform a 198 biosynthetic process isomerase activity skin(2)|ovary(1) 3 TTAAGGGTAAGAATAAGCCCT 0.468 NaN 0 0 0 0.870114 0 58 61 DNA2 1763 broad.mit.edu 37 10 70190242 70190242 + Missense_Mutation SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr10:70190242G>A uc001jof.2 - 14 2417 c.2417C>T c.(2416-2418)TCA>TTA p.S806L DNA2_uc001jog.1_Intron|DNA2_uc001joh.1_RNA NM_001080449 NP_001073918 P51530 DNA2L_HUMAN DNA replication helicase 2 homolog 720 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 AATGGACTTTGATCTGCAAAT 0.348 NaN 0 0 0 0.27861 0 7 13 TLL2 7093 broad.mit.edu 37 10 98155634 98155634 + Missense_Mutation SNP C C G TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr10:98155634C>G uc001kml.1 - 12 1754 c.1528G>C c.(1528-1530)GAG>CAG p.E510Q TLL2_uc009xvf.1_Missense_Mutation_p.E488Q NM_012465 NP_036597 Q9Y6L7 TLL2_HUMAN tolloid-like 2 precursor 510 CUB 2. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) GCACTCACCTCAAAAGCTTGG 0.478 NaN OREG0020398 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.859065 0 42 61 SFRP5 6425 broad.mit.edu 37 10 99527601 99527601 + Silent SNP G G T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr10:99527601G>T uc001kor.3 - 3 790 c.624C>A c.(622-624)ATC>ATA p.I208I NM_003015 NP_003006 Q5T4F7 SFRP5_HUMAN secreted frizzled-related protein 5 precursor 208 NTR. apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|vasculature development|visual perception cytoplasm|extracellular space|plasma membrane PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(1) 1 Colorectal(252;0.234) Epithelial(162;4.98e-10)|all cancers(201;3.58e-08) TGATCTCCTTGATGCGCATTT 0.542 NaN 1 0 2.96211e-45 0.870114 3.45253e-45 107 228 SORCS1 114815 broad.mit.edu 37 10 108439408 108439408 + Missense_Mutation SNP T T C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr10:108439408T>C uc001kym.2 - 11 1653 c.1645A>G c.(1645-1647)AGC>GGC p.S549G SORCS1_uc001kyl.2_Missense_Mutation_p.S549G|SORCS1_uc009xxs.2_Missense_Mutation_p.S549G|SORCS1_uc001kyn.1_Missense_Mutation_p.S549G|SORCS1_uc001kyo.2_Missense_Mutation_p.S549G NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 549 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) ACTATGATGCTTGGAGCTGTG 0.413 NaN 0 0 0 0.539581 0 15 17 MRGPRE 116534 broad.mit.edu 37 11 3249613 3249613 + Silent SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr11:3249613C>T uc001lxq.3 - 2 724 c.414G>A c.(412-414)CTG>CTA p.L138L NM_001039165 NP_001034254 Q86SM8 MRGRE_HUMAN MAS-related GPR, member E 138 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity large_intestine(1)|ovary(1) 2 Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19) CACAGGTGGTCAGGTGGCGTG 0.706 NaN 0 0 0 0.479597 0 13 18 OR51S1 119692 broad.mit.edu 37 11 4870194 4870194 + Missense_Mutation SNP A A T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr11:4870194A>T uc010qyo.1 - 1 245 c.245T>A c.(244-246)GTC>GAC p.V82D NM_001004758 NP_001004758 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, 82 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) CAGGGCAGTGACCAATCCAAT 0.547 NaN 0 0 0 0.608945 0 21 65 IMMP1L 196294 broad.mit.edu 37 11 31455050 31455050 + Missense_Mutation SNP C C A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr11:31455050C>A uc001msy.1 - 6 585 c.389G>T c.(388-390)GGA>GTA p.G130V IMMP1L_uc001msz.1_Missense_Mutation_p.G130V NM_144981 NP_659418 Q96LU5 IMP1L_HUMAN IMP1 inner mitochondrial membrane 130 proteolysis mitochondrial inner membrane serine-type peptidase activity 0 Lung SC(675;0.225) TGGAATAGGTCCATAGCACCT 0.368 NaN 1 0 7.04047e-22 0.812448 7.79323e-22 36 56 POLA2 23649 broad.mit.edu 37 11 65046238 65046238 + Nonsense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr11:65046238C>T uc001odj.2 + 6 841 c.499C>T c.(499-501)CGA>TGA p.R167* POLA2_uc009yqf.1_Nonsense_Mutation_p.R167*|POLA2_uc010rod.1_5'UTR|POLA2_uc001odk.2_5'Flank NM_002689 NP_002680 Q14181 DPOA2_HUMAN DNA-directed DNA polymerase alpha 2 167 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication nucleoplasm DNA binding 0 Dacarbazine(DB00851) ACGAAGTAACCGAGGAGAAGT 0.453 NaN 0 0 0 0.870114 0 66 169 PCF11 51585 broad.mit.edu 37 11 82877720 82877720 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr11:82877720C>T uc001ozx.3 + 5 2126 c.1781C>T c.(1780-1782)GCC>GTC p.A594V PCF11_uc010rsu.1_Missense_Mutation_p.A594V NM_015885 NP_056969 O94913 PCF11_HUMAN pre-mRNA cleavage complex II protein Pcf11 594 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex ovary(1) 1 TCCAAGTCTGCCAAAAGATGG 0.358 NaN 0 0 0 0.840704 0 43 78 BACE1 23621 broad.mit.edu 37 11 117164662 117164662 + Silent SNP G G C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr11:117164662G>C uc001pqz.2 - 4 1091 c.630C>G c.(628-630)CTC>CTG p.L210L BACE1_uc001pqw.2_Intron|BACE1_uc001pqx.2_Intron|BACE1_uc001pqy.2_Silent_p.L166L|BACE1_uc001pra.1_3'UTR|BACE1_uc010rxg.1_Intron|BACE1_uc010rxh.1_Silent_p.L110L|BACE1_uc009yzo.1_5'Flank NM_012104 NP_036236 P56817 BACE1_HUMAN beta-site APP-cleaving enzyme 1 isoform A 210 Extracellular (Potential). beta-amyloid metabolic process|membrane protein ectodomain proteolysis cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding ovary(1) 1 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032) GCAGGGAGAAGAGGTTGGGAA 0.567 NaN 0 0 0 0.870114 0 57 73 TECTA 7007 broad.mit.edu 37 11 121028601 121028601 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr11:121028601C>T uc010rzo.1 + 13 4357 c.4357C>T c.(4357-4359)CGT>TGT p.R1453C NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 1453 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CCGCTGTTTCCGTCGCAACGT 0.602 NaN 0 0 0 0.361761 0 9 177 TEAD4 7004 broad.mit.edu 37 12 3128321 3128321 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr12:3128321C>T uc010sej.1 + 8 842 c.565C>T c.(565-567)CCG>TCG p.P189S TEAD4_uc010sek.1_Missense_Mutation_p.P146S|TEAD4_uc001qln.2_Missense_Mutation_p.P61S NM_003213 NP_003204 Q15561 TEAD4_HUMAN TEA domain family member 4 isoform 1 190 hippo signaling cascade|muscle organ development|skeletal system development DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 Ovarian(42;0.211) OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831) TGTCCAGCCTCCGCTGCCTCT 0.682 NaN 0 0 0 0.870114 0 67 91 TAS2R13 50838 broad.mit.edu 37 12 11061864 11061864 + Missense_Mutation SNP C C G TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr12:11061864C>G uc001qzg.1 - 1 298 c.34G>C c.(34-36)GTA>CTA p.V12L PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron NM_023920 NP_076409 Q9NYV9 T2R13_HUMAN taste receptor, type 2, member 13 12 Helical; Name=1; (Potential). sensory perception of taste integral to membrane taste receptor activity breast(1)|skin(1) 2 GCAATTATTACAAGAGTGAAG 0.388 NaN 0 0 0 0.457914 0 12 27 ANP32D 23519 broad.mit.edu 37 12 48866717 48866717 + Silent SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr12:48866717C>T uc010slt.1 + 1 270 c.270C>T c.(268-270)CTC>CTT p.L90L NM_012404 NP_036536 O95626 AN32D_HUMAN acidic nuclear phosphoprotein 32D 90 LRR 4. ovary(1)|central_nervous_system(1) 2 GTCCAAACCTCATACATCTAA 0.398 NaN 0 0 0 0.796494 0 35 53 MLL2 8085 broad.mit.edu 37 12 49425078 49425078 + Missense_Mutation SNP C C G TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr12:49425078C>G uc001rta.3 - 39 13410 c.13410G>C c.(13408-13410)AAG>AAC p.K4470N NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 4470 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 GTTGCACATTCTTTGCCCGGA 0.617 NaN N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 0 0 0 0.870114 0 92 135 MLL2 8085 broad.mit.edu 37 12 49427906 49427906 + Nonsense_Mutation SNP C C A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 C A C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr12:49427906C>A uc001rta.3 - 38 10684 c.10684G>T c.(10684-10686)GAG>TAG p.E3562* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 3562 Potential.|Gln-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 TTGAGCTTCTCAGCATCAGCT 0.547 NaN N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 1 0 3.4887e-51 0.870114 4.12088e-51 77 113 HOXC11 3227 broad.mit.edu 37 12 54367330 54367330 + Missense_Mutation SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr12:54367330G>A uc001sem.2 + 1 421 c.305G>A c.(304-306)CGG>CAG p.R102Q NM_014212 NP_055027 O43248 HXC11_HUMAN homeobox C11 102 endoderm development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 CTTATGCACCGGGAGTGCCTG 0.672 NaN T NUP98 AML 0 0 0 0.870114 0 205 294 SMARCC2 6601 broad.mit.edu 37 12 56567574 56567574 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr12:56567574C>T uc001skb.2 - 17 1662 c.1556G>A c.(1555-1557)CGA>CAA p.R519Q SMARCC2_uc001skd.2_Missense_Mutation_p.R519Q|SMARCC2_uc001ska.2_Missense_Mutation_p.R519Q|SMARCC2_uc001skc.2_Missense_Mutation_p.R519Q|SMARCC2_uc010sqf.1_Missense_Mutation_p.R408Q NM_003075 NP_003066 Q8TAQ2 SMRC2_HUMAN SWI/SNF-related matrix-associated 519 SWIRM. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity lung(2)|central_nervous_system(2)|ovary(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(18;0.123) TGGGGTTGGTCGACTCTCAGC 0.577 NaN 0 0 0 0.870114 0 141 233 SYT1 6857 broad.mit.edu 37 12 79611344 79611344 + Silent SNP C C A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr12:79611344C>A uc001sys.2 + 5 716 c.45C>A c.(43-45)GTC>GTA p.V15V SYT1_uc001syt.2_Silent_p.V15V|SYT1_uc001syu.2_Silent_p.V15V|SYT1_uc001syv.2_Silent_p.V15V NM_001135805 NP_001129277 P21579 SYT1_HUMAN synaptotagmin I 15 Vesicular (Potential). detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity skin(3)|pancreas(2)|ovary(1) 6 CCCCGCCTGTCACCACTGTCG 0.517 NaN 1 0 3.08376e-08 0.654019 3.1926e-08 18 25 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr12:132547087G>A uc001ujn.2 + 46 8210 c.8175G>A c.(8173-8175)CAG>CAA p.Q2725Q EP400_uc001ujl.2_Silent_p.Q2724Q|EP400_uc001ujm.2_Silent_p.Q2644Q|EP400_uc001ujp.2_5'UTR NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 2761 Poly-Gln.|Interaction with ZNF42 (By similarity). histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.289 NaN 0 0 0 0.27861 0 6 66 P2RX2 22953 broad.mit.edu 37 12 133196152 133196152 + Missense_Mutation SNP C C A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr12:133196152C>A uc001ukj.1 + 2 301 c.301C>A c.(301-303)CCC>ACC p.P101T P2RX2_uc001uki.1_Missense_Mutation_p.P101T|P2RX2_uc001ukk.1_Missense_Mutation_p.P101T|P2RX2_uc001ukl.1_Missense_Mutation_p.P101T|P2RX2_uc001ukm.1_Missense_Mutation_p.A78D|P2RX2_uc001ukn.1_Intron|P2RX2_uc009zyt.1_Missense_Mutation_p.P101T|P2RX2_uc001uko.1_Missense_Mutation_p.P101T NM_170682 NP_733782 Q9UBL9 P2RX2_HUMAN purinergic receptor P2X2 isoform A 101 Extracellular (Potential). positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization integral to membrane ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0767) OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06) GTACGTGAAGCCCCCCGAGGT 0.577 NaN 1 0 3.05275e-18 0.864702 3.25626e-18 46 88 ZC3H13 23091 broad.mit.edu 37 13 46539484 46539484 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr13:46539484C>T uc010tfw.1 - 15 4408 c.4402G>A c.(4402-4404)GAA>AAA p.E1468K ZC3H13_uc001vaq.2_Missense_Mutation_p.E53K|ZC3H13_uc001vas.1_Missense_Mutation_p.E1469K NM_015070 NP_055885 Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 1468 nucleic acid binding|zinc ion binding ovary(1)|lung(1) 2 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) TCATCTAGTTCGTCATCACTG 0.438 NaN 0 0 0 0.307466 0 9 124 FOS 2353 broad.mit.edu 37 14 75745827 75745827 + Splice_Site SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr14:75745827G>A uc001xrn.2 + 1 346 c.141_splice c.e1+1 p.Q47_splice FOS_uc010tva.1_Splice_Site_p.Q47_splice|FOS_uc010asi.2_5'Flank|FOS_uc001xro.2_5'Flank NM_005252 NP_005243 P01100 FOS_HUMAN v-fos FBJ murine osteosarcoma viral oncogene cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding lung(2)|ovary(1) 3 all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112) BRCA - Breast invasive adenocarcinoma(234;0.0117) CAACGCGCAGGTAAGGCTGGC 0.692 NaN 0 0 0 0.870114 0 41 62 SETD3 84193 broad.mit.edu 37 14 99866554 99866554 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr14:99866554C>T uc001ygc.2 - 12 1390 c.1220G>A c.(1219-1221)AGA>AAA p.R407K NM_032233 NP_115609 Q86TU7 SETD3_HUMAN SET domain containing 3 isoform a 407 peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity 0 all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866) GGTGAAGATTCTATCAATAGC 0.333 NaN 0 0 0 0.870114 0 54 102 C15orf2 23742 broad.mit.edu 37 15 24921378 24921378 + Missense_Mutation SNP A A C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr15:24921378A>C uc001ywo.2 + 1 838 c.364A>C c.(364-366)ATG>CTG p.M122L NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 122 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) TCCCAGCCGCATGTTCACTCT 0.647 NaN 0 0 0 0.870114 0 65 129 DTWD1 56986 broad.mit.edu 37 15 49926748 49926748 + Missense_Mutation SNP C C A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr15:49926748C>A uc001zxq.2 + 5 701 c.424C>A c.(424-426)CCT>ACT p.P142T DTWD1_uc001zxs.2_Missense_Mutation_p.P142T|DTWD1_uc001zxr.2_Missense_Mutation_p.P55T|DTWD1_uc001zxo.2_Missense_Mutation_p.P142T NM_020234 NP_064619 Q8N5C7 DTWD1_HUMAN DTW domain containing 1 142 0 all_lung(180;0.0384) all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05) ACTCATTTTTCCTGGACCTCA 0.308 NaN 1 0 8.16277e-20 0.827153 8.81379e-20 35 51 SCG3 29106 broad.mit.edu 37 15 51975502 51975502 + Missense_Mutation SNP G G C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr15:51975502G>C uc002abh.2 + 4 676 c.268G>C c.(268-270)GAA>CAA p.E90Q SCG3_uc010ufz.1_5'UTR NM_013243 NP_037375 Q8WXD2 SCG3_HUMAN secretogranin III isoform 1 precursor 90 platelet activation|platelet degranulation extracellular region|stored secretory granule ovary(1) 1 all cancers(107;0.00488) AATTGAGAAAGAAAGACAATC 0.358 NaN 0 0 0 0.870114 0 98 144 HCN4 10021 broad.mit.edu 37 15 73624589 73624589 + Silent SNP G G T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr15:73624589G>T uc002avp.2 - 3 2248 c.1254C>A c.(1252-1254)ATC>ATA p.I418I NM_005477 NP_005468 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic 418 Cytoplasmic (Potential). blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity ovary(5)|liver(1) 6 COAD - Colon adenocarcinoma(1;0.142) TGAGGTTCACGATGCGCACCA 0.612 NaN 1 0 1.1794e-34 0.870114 1.3567e-34 70 96 RPP25 54913 broad.mit.edu 37 15 75248520 75248520 + Silent SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr15:75248520G>A uc002azj.1 - 1 1256 c.405C>T c.(403-405)CTC>CTT p.L135L NM_017793 NP_060263 Q9BUL9 RPP25_HUMAN ribonuclease P 25kDa subunit 135 tRNA processing nucleus protein binding|ribonuclease P activity|RNA binding 0 GTAGGATGGCGAGGCCGGGCA 0.697 NaN 0 0 0 0.479597 0 15 19 CHD2 1106 broad.mit.edu 37 15 93563313 93563313 + Missense_Mutation SNP G G T rs61752830 TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr15:93563313G>T uc002bsp.2 + 38 5553 c.4978G>T c.(4978-4980)GAC>TAC p.D1660Y CHD2_uc002bso.1_Missense_Mutation_p.D1660Y NM_001271 NP_001262 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1660 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|skin(1) 2 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) ATGGGGAAGCGACAGGCACCA 0.512 NaN 1 0 1.1804e-14 0.667858 1.24401e-14 25 42 ADAMTS17 170691 broad.mit.edu 37 15 100673517 100673517 + Silent SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr15:100673517G>A uc002bvv.1 - 11 1556 c.1477C>T c.(1477-1479)CTA>TTA p.L493L ADAMTS17_uc002bvx.1_Silent_p.L250L NM_139057 NP_620688 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 493 Disintegrin. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) gcacacattagatgctGCAGG 0.244 NaN 0 0 0 0.248553 0 6 18 C16orf91 283951 broad.mit.edu 37 16 1476162 1476162 + Missense_Mutation SNP G G T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr16:1476162G>T uc010uvd.1 - 3 461 c.461C>A c.(460-462)GCT>GAT p.A154D NM_001010878 NP_001010878 Q4G0I0 CSMT1_HUMAN hypothetical protein LOC283951 127 Cytoplasmic (Potential). integral to membrane 0 GGACCTGGGAGCACCCACTGT 0.637 NaN 1 0 2.59497e-14 0.834066 2.71854e-14 43 270 CORO7 79585 broad.mit.edu 37 16 4411441 4411441 + Silent SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr16:4411441C>T uc002cwh.3 - 17 1728 c.1608G>A c.(1606-1608)ACG>ACA p.T536T CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Silent_p.T536T|CORO7_uc002cwg.3_Silent_p.T316T|CORO7_uc010uxh.1_Silent_p.T518T|CORO7_uc010uxi.1_Silent_p.T451T|CORO7_uc002cwi.1_Silent_p.T316T|CORO7_uc010uxj.1_RNA NM_024535 NP_078811 P57737 CORO7_HUMAN coronin 7 536 cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction 0 TGGGCAGTGCCGTGTCGGGCA 0.687 NaN 0 0 0 0.804634 0 35 95 SRCAP 10847 broad.mit.edu 37 16 30723437 30723437 + Missense_Mutation SNP G G C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr16:30723437G>C uc002dze.1 + 12 2159 c.1774G>C c.(1774-1776)GAA>CAA p.E592Q SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.E449Q|SRCAP_uc010bzz.1_Missense_Mutation_p.E162Q NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 592 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) TGCAGCAGCTGAAAGTCTCCA 0.542 NaN 0 0 0 0.847076 0 42 85 SRCAP 10847 broad.mit.edu 37 16 30724116 30724116 + Missense_Mutation SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr16:30724116G>A uc002dze.1 + 14 2495 c.2110G>A c.(2110-2112)GAG>AAG p.E704K SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.E561K|SRCAP_uc010bzz.1_Missense_Mutation_p.E274K NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 704 Helicase ATP-binding. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) AGCCCAGAAAGAGAGGAAGCT 0.463 NaN 0 0 0 0.870114 0 77 125 SRCAP 10847 broad.mit.edu 37 16 30724634 30724634 + Missense_Mutation SNP G G C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr16:30724634G>C uc002dze.1 + 15 2621 c.2236G>C c.(2236-2238)GAT>CAT p.D746H SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.D603H|SRCAP_uc010bzz.1_Missense_Mutation_p.D316H NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 746 Helicase ATP-binding. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) TCTCATTCTGGATGAGGCGCA 0.527 NaN 0 0 0 0.870114 0 96 132 ABCC12 94160 broad.mit.edu 37 16 48177903 48177903 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr16:48177903C>T uc002efc.1 - 2 539 c.193G>A c.(193-195)GTG>ATG p.V65M ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.V65M|ABCC12_uc010vgj.1_RNA NM_033226 NP_150229 Q96J65 MRP9_HUMAN ATP-binding cassette protein C12 65 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 all_cancers(37;0.0474)|all_lung(18;0.047) TAGCCTTTCACCATCACCGGC 0.547 NaN 0 0 0 0.788014 0 38 65 CDH15 1013 broad.mit.edu 37 16 89261395 89261395 + Silent SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr16:89261395G>A uc002fmt.2 + 14 2354 c.2277G>A c.(2275-2277)GAG>GAA p.E759E NM_004933 NP_004924 P55291 CAD15_HUMAN cadherin 15 preproprotein 759 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0261) AGGGCGATGAGGACCAGGACT 0.657 NaN 0 0 0 0.706142 0 28 32 ALOX12B 242 broad.mit.edu 37 17 7976982 7976982 + Missense_Mutation SNP G G T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr17:7976982G>T uc002gjy.1 - 13 2009 c.1748C>A c.(1747-1749)ACA>AAA p.T583K NM_001139 NP_001130 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type 583 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity 0 TACCTGGCCTGTGTTGACAGC 0.358 NaN Multiple Myeloma(8;0.094) OREG0024152 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 2.20262e-25 0.769981 2.45355e-25 33 63 MED24 9862 broad.mit.edu 37 17 38178227 38178227 + Silent SNP G G T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr17:38178227G>T uc002htt.2 - 23 2917 c.2604C>A c.(2602-2604)GCC>GCA p.A868A MED24_uc010weq.1_5'Flank|MED24_uc002htr.2_5'UTR|MED24_uc010wer.1_Silent_p.A203A|MED24_uc010wes.1_Silent_p.A728A|MED24_uc010wet.1_RNA|MED24_uc002hts.2_Silent_p.A893A|MED24_uc002htu.2_Silent_p.A855A|MED24_uc010cwn.2_Silent_p.A855A|MED24_uc010weu.1_Silent_p.A778A|MED24_uc010wev.1_Silent_p.A818A NM_014815 NP_055630 O75448 MED24_HUMAN mediator complex subunit 24 isoform 1 868 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1) 1 Colorectal(19;0.000442) AAAGGATGTTGGCATCGTCCT 0.587 NaN 1 0 8.79861e-51 0.870114 1.03237e-50 75 129 BRCA1 672 broad.mit.edu 37 17 41246211 41246211 + Missense_Mutation SNP C C G TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr17:41246211C>G uc002icq.2 - 10 1569 c.1337G>C c.(1336-1338)AGA>ACA p.R446T BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.R375T|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.R399T|BRCA1_uc002ict.2_Missense_Mutation_p.R446T|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.R446T|BRCA1_uc002ide.1_Missense_Mutation_p.R277T|BRCA1_uc010cyy.1_Missense_Mutation_p.R446T|BRCA1_uc010whs.1_Missense_Mutation_p.R446T|BRCA1_uc010cyz.2_Missense_Mutation_p.R399T|BRCA1_uc010cza.2_Missense_Mutation_p.R420T|BRCA1_uc010wht.1_Missense_Mutation_p.R150T NM_007294 NP_009225 P38398 BRCA1_HUMAN breast cancer 1, early onset isoform 1 446 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1) 52 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) GGAGTGAACTCTTTCACTTTT 0.378 NaN D|Mis|N|F|S ovarian breast|ovarian Homologous_recombination Hereditary_Breast-Ovarian_Cancer_BRCA1_type TCGA Ovarian(2;0.000030) 0 0 0 0.864702 0 47 70 SCN4A 6329 broad.mit.edu 37 17 62020234 62020234 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr17:62020234C>T uc002jds.1 - 23 4317 c.4240G>A c.(4240-4242)GTT>ATT p.V1414I NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 1414 Helical; Name=S3 of repeat IV; (Potential).|IV. muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) TTCCAGCCAACGGTGAAGTAG 0.572 NaN 0 0 0 0.870114 0 63 190 GRIN2C 2905 broad.mit.edu 37 17 72843023 72843023 + Missense_Mutation SNP A A C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr17:72843023A>C uc002jlt.1 - 10 2194 c.2038T>G c.(2038-2040)TTC>GTC p.F680V GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.F680V NM_000835 NP_000826 Q14957 NMDE3_HUMAN N-methyl-D-aspartate receptor subunit 2C 680 Extracellular (Potential). glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity ovary(2)|breast(2) 4 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) ACCGTGCCGAAGCGGAAAGGT 0.612 NaN 0 0 0 0.870114 0 104 260 GGA3 23163 broad.mit.edu 37 17 73235616 73235616 + Silent SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr17:73235616G>A uc002jni.1 - 14 1629 c.1620C>T c.(1618-1620)CTC>CTT p.L540L GGA3_uc002jnj.1_Silent_p.L507L|GGA3_uc010wrw.1_Silent_p.L418L|GGA3_uc002jnk.1_Silent_p.L468L|GGA3_uc010wrx.1_Silent_p.L418L|GGA3_uc010wry.1_Silent_p.L468L NM_138619 NP_619525 Q9NZ52 GGA3_HUMAN ADP-ribosylation factor binding protein 3 540 Unstructured hinge. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|trans-Golgi network ADP-ribosylation factor binding ovary(1)|breast(1) 2 all cancers(21;2.39e-06)|Epithelial(20;2.38e-05) TGGTGGGGATGAGAGGGGAGG 0.667 NaN OREG0024729 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.27861 0 8 24 SLC25A19 60386 broad.mit.edu 37 17 73269536 73269536 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr17:73269536C>T uc002jns.3 - 6 1869 c.959G>A c.(958-960)CGC>CAC p.R320H SLC25A19_uc010dge.2_Missense_Mutation_p.R263H|SLC25A19_uc002jnv.3_Missense_Mutation_p.R320H|SLC25A19_uc002jnu.3_Missense_Mutation_p.R320H|SLC25A19_uc002jnw.3_Missense_Mutation_p.R320H|SLC25A19_uc002jnt.3_Missense_Mutation_p.R320H NM_021734 NP_068380 Q9HC21 TPC_HUMAN solute carrier family 25, member 19 320 integral to membrane|mitochondrial inner membrane binding|deoxynucleotide transmembrane transporter activity ovary(1) 1 all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08) all cancers(21;6.82e-07)|Epithelial(20;6.86e-06) CTGCACTCAGCGCTGGCTGGC 0.567 NaN 0 0 0 0.870114 0 46 185 GAA 2548 broad.mit.edu 37 17 78079575 78079575 + Nonsense_Mutation SNP G G T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr17:78079575G>T uc002jxo.2 + 4 756 c.574G>T c.(574-576)GAG>TAG p.E192* GAA_uc002jxp.2_Nonsense_Mutation_p.E192*|GAA_uc002jxq.2_Nonsense_Mutation_p.E192* NM_001079803 NP_001073271 P10253 LYAG_HUMAN acid alpha-glucosidase preproprotein 192 cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity ovary(1) 1 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) CAGGCGCTACGAGGTGCCCTT 0.602 NaN 1 0 7.47603e-22 0.870114 8.22363e-22 49 193 ZADH2 284273 broad.mit.edu 37 18 72913894 72913894 + Missense_Mutation SNP C C A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr18:72913894C>A uc002llx.2 - 2 879 c.611G>T c.(610-612)TGC>TTC p.C204F ZADH2_uc010dqv.2_Missense_Mutation_p.C81F NM_175907 NP_787103 Q8N4Q0 ZADH2_HUMAN zinc binding alcohol dehydrogenase domain 204 peroxisome oxidoreductase activity|zinc ion binding 0 Esophageal squamous(42;0.131)|Prostate(75;0.155) READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216) ATCAGAAGAGCAGGTTCCAAT 0.468 NaN 1 0 1.47391e-114 0.870114 1.75275e-114 267 687 PLIN5 440503 broad.mit.edu 37 19 4523684 4523684 + Silent SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr19:4523684C>T uc002mas.2 - 8 1301 c.1248G>A c.(1246-1248)CAG>CAA p.Q416Q NM_001013706 NP_001013728 Q00G26 PLIN5_HUMAN lipid storage droplet protein 5 416 lipid particle 0 CCCAGGCTCTCTGCTGGGCCG 0.711 NaN OREG0025168 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.870114 0 129 177 LOC55908 55908 broad.mit.edu 37 19 11350372 11350372 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr19:11350372C>T uc010dxx.2 + 2 220 c.218C>T c.(217-219)TCA>TTA p.S73L DOCK6_uc010xlq.1_5'Flank|DOCK6_uc002mqs.3_Intron|LOC55908_uc010dxw.2_Intron NM_018687 NP_061157 Q6UXH0 TD26_HUMAN hepatocellular carcinoma-associated gene TD26 20 extracellular region 0 CGGCCTGCCTCAGCGGCCCCC 0.642 NaN 0 0 0 0.796494 0 37 53 LPHN1 22859 broad.mit.edu 37 19 14274115 14274115 + Silent SNP A A C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr19:14274115A>C uc010xnn.1 - 6 809 c.513T>G c.(511-513)GGT>GGG p.G171G LPHN1_uc010xno.1_Silent_p.G166G|uc002myf.2_Intron NM_001008701 NP_001008701 O94910 LPHN1_HUMAN latrophilin 1 isoform 1 precursor 171 Olfactomedin-like.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding ovary(2)|lung(2)|central_nervous_system(1) 5 AGATGCGGTCACCCGCCTGCA 0.652 NaN 0 0 0 0.840704 0 11 53 MLL4 9757 broad.mit.edu 37 19 36223287 36223287 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr19:36223287C>T uc010eei.2 + 29 5837 c.5837C>T c.(5836-5838)TCA>TTA p.S1946L NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 1946 chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCTCCTACCTCAGTCGTCACA 0.677 NaN 0 0 0 0.693898 0 24 29 ZNF780B 163131 broad.mit.edu 37 19 40541026 40541026 + Silent SNP G G A rs143352640 by1000genomes TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr19:40541026G>A uc002omu.2 - 5 1805 c.1740C>T c.(1738-1740)ACC>ACT p.T580T ZNF780B_uc002omv.2_Silent_p.T432T NM_001005851 NP_001005851 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 580 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) GTTTCTTTCCGGTATGAATAC 0.388 NaN 0 0 0 0.796494 0 36 123 ERF 2077 broad.mit.edu 37 19 42752674 42752674 + Silent SNP C C A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr19:42752674C>A uc002ote.3 - 4 1748 c.1590G>T c.(1588-1590)GTG>GTT p.V530V ERF_uc002otd.3_Silent_p.V261V NM_006494 NP_006485 P50548 ERF_HUMAN Ets2 repressor factor 530 cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity lung(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Prostate(69;0.00682) GGTCAGAGCTCACCCGCCTTG 0.711 NaN 1 0 2.68985e-26 0.870114 3.05428e-26 48 72 ZNF234 10780 broad.mit.edu 37 19 44662014 44662014 + Missense_Mutation SNP G G C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr19:44662014G>C uc002oym.2 + 6 2152 c.1845G>C c.(1843-1845)CAG>CAC p.Q615H ZNF234_uc002oyl.3_Missense_Mutation_p.Q615H NM_006630 NP_006621 Q14588 ZN234_HUMAN zinc finger protein 234 615 C2H2-type 17. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0435) AACTTCATCAGAGTGTCCACA 0.473 NaN 0 0 0 0.870114 0 55 81 PNMAL1 55228 broad.mit.edu 37 19 46973800 46973800 + Missense_Mutation SNP C C G TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr19:46973800C>G uc002peq.3 - 2 799 c.493G>C c.(493-495)GAT>CAT p.D165H PNMAL1_uc002per.3_Missense_Mutation_p.D165H NM_018215 NP_060685 Q86V59 PNML1_HUMAN PNMA-like 1 isoform a 165 0 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) ATCTCGGCATCCATGCAGAAG 0.428 NaN 0 0 0 0.870114 0 121 175 FAM71E1 112703 broad.mit.edu 37 19 50978631 50978631 + Silent SNP A A G TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr19:50978631A>G uc002psh.2 - 3 848 c.490T>C c.(490-492)TTG>CTG p.L164L FAM71E1_uc002psg.2_Silent_p.L148L|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 164 breast(1) 1 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026) GCCAGAAGCAATAGGTCCGGG 0.647 NaN 0 0 0 0.457914 0 14 36 MBOAT7 79143 broad.mit.edu 37 19 54677813 54677813 + Silent SNP A A C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr19:54677813A>C uc002qdq.2 - 9 1610 c.1344T>G c.(1342-1344)GGT>GGG p.G448G TMC4_uc010erf.2_5'Flank|TMC4_uc002qdo.2_5'Flank|MBOAT7_uc010erg.2_Silent_p.G132G|MBOAT7_uc010yem.1_Silent_p.G430G|MBOAT7_uc002qdr.2_Silent_p.G448G|MBOAT7_uc002qds.2_Silent_p.G375G|MBOAT7_uc010yen.1_Silent_p.G375G NM_024298 NP_077274 Q96N66 MBOA7_HUMAN membrane bound O-acyltransferase domain 448 Helical; (Potential). phospholipid biosynthetic process integral to membrane acyltransferase activity 0 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GGCTGCCCCCACCTAAAGCCA 0.662 NaN 0 0 0 0.479597 0 10 105 SLC4A1AP 22950 broad.mit.edu 37 2 27898484 27898484 + Silent SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr2:27898484G>A uc002rlk.3 + 6 1713 c.1431G>A c.(1429-1431)CTG>CTA p.L477L NM_018158 NP_060628 Q9BWU0 NADAP_HUMAN solute carrier family 4 (anion exchanger), 477 cytoplasm|nucleus double-stranded RNA binding|protein binding 0 Acute lymphoblastic leukemia(172;0.155) GGACTGGCCTGATTGAGAAGA 0.398 NaN 0 0 0 0.729181 0 30 61 EFEMP1 2202 broad.mit.edu 37 2 56108800 56108800 + Missense_Mutation SNP G G T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr2:56108800G>T uc002rzh.2 - 5 917 c.587C>A c.(586-588)TCC>TAC p.S196Y EFEMP1_uc002rzi.2_Missense_Mutation_p.S196Y|EFEMP1_uc002rzj.2_Missense_Mutation_p.S196Y|EFEMP1_uc010ypc.1_Missense_Mutation_p.S138Y NM_004105 NP_004096 Q12805 FBLN3_HUMAN EGF-containing fibulin-like extracellular matrix 196 EGF-like 2; calcium-binding (Potential). negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception extracellular space|proteinaceous extracellular matrix calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity ovary(4)|pancreas(1)|skin(1) 6 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) ACATGCAAAGGATCCCCGTAA 0.507 NaN 1 0 7.76418e-22 0.693898 8.48756e-22 27 48 ATOH8 84913 broad.mit.edu 37 2 85982034 85982034 + Missense_Mutation SNP C C G TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr2:85982034C>G uc002sqn.2 + 1 1126 c.722C>G c.(721-723)ACG>AGG p.T241R ATOH8_uc002sqm.3_Missense_Mutation_p.T241R NM_032827 NP_116216 Q96SQ7 ATOH8_HUMAN atonal homolog 8 241 Basic motif. cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 AGGGAGCGGACGCGGGTGCAC 0.706 NaN 0 0 0 0.870114 0 70 101 LYG2 254773 broad.mit.edu 37 2 99858848 99858848 + Missense_Mutation SNP G G T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr2:99858848G>T uc002szw.1 - 6 731 c.618C>A c.(616-618)TTC>TTA p.F206L MRPL30_uc002szl.1_Intron|LYG2_uc010fip.1_3'UTR NM_175735 NP_783862 Q86SG7 LYG2_HUMAN lysozyme G-like 2 precursor 206 cell wall macromolecule catabolic process|peptidoglycan catabolic process extracellular region lysozyme activity ovary(1) 1 GTCTTTTATAGAACTTAGCTC 0.463 NaN 1 0 1.4709e-25 0.870114 1.64891e-25 58 100 GCC2 9648 broad.mit.edu 37 2 109103046 109103046 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr2:109103046C>T uc002tec.2 + 16 4026 c.3872C>T c.(3871-3873)ACG>ATG p.T1291M GCC2_uc002ted.2_Missense_Mutation_p.T1190M NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain-containing 2 1291 Potential. Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding ovary(1) 1 CACCAGCGTACGCTAAGTGCA 0.502 NaN 0 0 0 0.812448 0 40 43 NFE2L2 4780 broad.mit.edu 37 2 178098953 178098953 + Missense_Mutation SNP C C G TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr2:178098953C>G uc002ulh.3 - 2 647 c.92G>C c.(91-93)GGA>GCA p.G31A NFE2L2_uc002ulg.3_Missense_Mutation_p.G15A|NFE2L2_uc010zfa.1_Missense_Mutation_p.G15A|NFE2L2_uc002uli.3_Missense_Mutation_p.G15A|NFE2L2_uc010fra.2_Missense_Mutation_p.G15A|NFE2L2_uc010frb.2_Missense_Mutation_p.G15A NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 31 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.G31R(1) central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TCGACTTACTCCAAGATCTAT 0.363 NaN Mis NSCLC|HNSCC HNSCC(56;0.16) 0 0 0 0.608945 0 22 39 TTN 7273 broad.mit.edu 37 2 179412782 179412782 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr2:179412782C>T uc010zfg.1 - 288 86091 c.85867G>A c.(85867-85869)GAT>AAT p.D28623N uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D22318N|TTN_uc010zfi.1_Missense_Mutation_p.D22251N|TTN_uc010zfj.1_Missense_Mutation_p.D22126N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 29550 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) TAGCCAGCATCATTCTTGGCC 0.458 NaN 0 0 0 0.750413 0 34 68 TTN 7273 broad.mit.edu 37 2 179412881 179412881 + Missense_Mutation SNP C C G TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr2:179412881C>G uc010zfg.1 - 288 85992 c.85768G>C c.(85768-85770)GAC>CAC p.D28590H uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D22285H|TTN_uc010zfi.1_Missense_Mutation_p.D22218H|TTN_uc010zfj.1_Missense_Mutation_p.D22093H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 29517 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) ACCCAGAAGTCAGATCCCTTT 0.468 NaN 0 0 0 0.870114 0 88 163 TTN 7273 broad.mit.edu 37 2 179412928 179412928 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr2:179412928C>T uc010zfg.1 - 288 85945 c.85721G>A c.(85720-85722)GGC>GAC p.G28574D uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G22269D|TTN_uc010zfi.1_Missense_Mutation_p.G22202D|TTN_uc010zfj.1_Missense_Mutation_p.G22077D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 29501 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) GATCCGGCTGCCTCCATCGTG 0.498 NaN 0 0 0 0.870114 0 74 130 TTN 7273 broad.mit.edu 37 2 179413248 179413248 + Silent SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr2:179413248C>T uc010zfg.1 - 288 85625 c.85401G>A c.(85399-85401)TTG>TTA p.L28467L uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L22162L|TTN_uc010zfi.1_Silent_p.L22095L|TTN_uc010zfj.1_Silent_p.L21970L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 29394 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) CATCCCACATCAATGTAGCAG 0.507 NaN 0 0 0 0.870114 0 99 175 TTN 7273 broad.mit.edu 37 2 179413427 179413427 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr2:179413427C>T uc010zfg.1 - 288 85446 c.85222G>A c.(85222-85224)GAT>AAT p.D28408N uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D22103N|TTN_uc010zfi.1_Missense_Mutation_p.D22036N|TTN_uc010zfj.1_Missense_Mutation_p.D21911N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 29335 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) CTGAAGGAATCTGTTGTATGG 0.448 NaN 0 0 0 0.812448 0 38 72 SF3B1 23451 broad.mit.edu 37 2 198267484 198267484 + Missense_Mutation SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr2:198267484G>A uc002uue.2 - 14 1921 c.1873C>T c.(1873-1875)CGT>TGT p.R625C NM_012433 NP_036565 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1 isoform 1 625 HEAT 3. nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding pancreas(3)|ovary(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.246) GTTGTGTTACGGACATACTCA 0.433 NaN 0 0 0 0.740014 0 30 49 NIF3L1 60491 broad.mit.edu 37 2 201756682 201756682 + Missense_Mutation SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr2:201756682G>A uc002uwm.2 + 2 107 c.16G>A c.(16-18)GTA>ATA p.V6I PPIL3_uc002uwh.2_5'Flank|PPIL3_uc002uwi.2_5'Flank|PPIL3_uc002uwj.2_5'Flank|PPIL3_uc002uwk.2_5'Flank|NIF3L1_uc002uwl.2_Intron|NIF3L1_uc002uwn.2_Intron|NIF3L1_uc002uwo.2_Missense_Mutation_p.V6I|NIF3L1_uc002uwp.2_Missense_Mutation_p.V6I|NIF3L1_uc002uwq.2_Missense_Mutation_p.V6I NM_001136039 NP_001129511 Q9GZT8 NIF3L_HUMAN NIF3 NGG1 interacting factor 3-like 1 isoform 1 6 positive regulation of transcription, DNA-dependent transcription factor binding skin(1) 1 GTCATCTTGCGTACGCCCAGT 0.438 NaN 0 0 0 0.457914 0 15 24 USP37 57695 broad.mit.edu 37 2 219360635 219360635 + Silent SNP C C A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr2:219360635C>A uc002vie.2 - 14 1773 c.1320G>T c.(1318-1320)CTG>CTT p.L440L USP37_uc010fvs.1_Silent_p.L440L|USP37_uc010zkf.1_Silent_p.L440L|USP37_uc002vif.2_Silent_p.L440L|USP37_uc002vig.2_Silent_p.L368L NM_020935 NP_065986 Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 440 ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity skin(3)|ovary(1)|prostate(1) 5 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) TATCTTCTTTCAGCTGGTCCA 0.338 NaN 1 0 4.62619e-21 0.796494 5.02598e-21 36 63 ZNF142 7701 broad.mit.edu 37 2 219503085 219503085 + Missense_Mutation SNP G G C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr2:219503085G>C uc002vin.2 - 10 5477 c.5041C>G c.(5041-5043)CCC>GCC p.P1681A ZNF142_uc002vil.2_Missense_Mutation_p.P1642A|ZNF142_uc010fvt.2_Missense_Mutation_p.P1518A|ZNF142_uc002vim.2_Missense_Mutation_p.P1518A NM_001105537 NP_001099007 P52746 ZN142_HUMAN zinc finger protein 142 1681 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) CCAGTGTGGGGAGCGGCAGGA 0.627 NaN 0 0 0 0.557998 0 14 26 ZNF142 7701 broad.mit.edu 37 2 219503172 219503172 + Nonsense_Mutation SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr2:219503172G>A uc002vin.2 - 10 5390 c.4954C>T c.(4954-4956)CAG>TAG p.Q1652* ZNF142_uc002vil.2_Nonsense_Mutation_p.Q1613*|ZNF142_uc010fvt.2_Nonsense_Mutation_p.Q1489*|ZNF142_uc002vim.2_Nonsense_Mutation_p.Q1489* NM_001105537 NP_001099007 P52746 ZN142_HUMAN zinc finger protein 142 1652 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) CCCACACCCTGGTTTGGGTCG 0.622 NaN 0 0 0 0.788014 0 30 66 INHA 3623 broad.mit.edu 37 2 220439578 220439578 + Missense_Mutation SNP C C A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr2:220439578C>A uc002vmk.1 + 2 575 c.431C>A c.(430-432)GCC>GAC p.A144D NM_002191 NP_002182 P05111 INHA_HUMAN inhibin alpha subunit precursor 144 cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development inhibin A complex|inhibin-betaglycan-ActRII complex cytokine activity|growth factor activity|hormone activity|signal transducer activity ovary(1) 1 Renal(207;0.0183) Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) GGCACAGCAGCCTCCAATAGC 0.642 NaN 1 0 7.34454e-26 0.870114 8.28615e-26 52 61 DOCK10 55619 broad.mit.edu 37 2 225653783 225653783 + Missense_Mutation SNP C C G TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr2:225653783C>G uc010fwz.1 - 48 5655 c.5416G>C c.(5416-5418)GAG>CAG p.E1806Q DOCK10_uc002vob.2_Missense_Mutation_p.E1800Q|DOCK10_uc002voa.2_Missense_Mutation_p.E462Q|DOCK10_uc002voc.2_Missense_Mutation_p.E627Q NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1806 DHR-2. GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) GGTCTAACCTCATTGTATGGT 0.393 NaN 0 0 0 0.217242 0 6 21 SP140 11262 broad.mit.edu 37 2 231113635 231113635 + Missense_Mutation SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr2:231113635G>A uc002vql.2 + 9 1043 c.928G>A c.(928-930)GAA>AAA p.E310K SP140_uc010zma.1_RNA|SP140_uc002vqk.2_Missense_Mutation_p.E310K|SP140_uc002vqn.2_Missense_Mutation_p.E257K|SP140_uc002vqm.2_Missense_Mutation_p.E284K|SP140_uc010fxl.2_Missense_Mutation_p.E310K NM_007237 NP_009168 Q13342 LY10_HUMAN SP140 nuclear body protein isoform 1 310 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AGTCACTAATGAAGGAGAACC 0.398 NaN 0 0 0 0.740014 0 30 66 PSMD1 5707 broad.mit.edu 37 2 231947666 231947666 + Missense_Mutation SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr2:231947666G>A uc002vrn.1 + 13 1614 c.1483G>A c.(1483-1485)GAT>AAT p.D495N PSMD1_uc002vrm.1_Missense_Mutation_p.D495N|PSMD1_uc010fxu.1_Missense_Mutation_p.D359N NM_002807 NP_002798 Q99460 PSMD1_HUMAN proteasome 26S non-ATPase subunit 1 495 PC 3. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding ovary(1)|skin(1) 2 Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168) Bortezomib(DB00188) AGATGTTTATGATTTGCTAAA 0.363 NaN 0 0 0 0.681144 0 25 40 BAGE2 85319 broad.mit.edu 37 21 11058303 11058303 + Missense_Mutation SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr21:11058303G>A uc002yit.1 - 3 345 c.137C>T c.(136-138)ACT>ATT p.T46I BAGE_uc002yiw.1_RNA NM_182482 NP_872288 B melanoma antigen family, member 2 precursor 0 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) TGGCTCCAAAGTGCTTACAAA 0.388 NaN 0 0 0 0.435327 0 10 268 RNF160 26046 broad.mit.edu 37 21 30365173 30365173 + Missense_Mutation SNP C C A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr21:30365173C>A uc002ymr.2 - 1 105 c.92G>T c.(91-93)CGT>CTT p.R31L NM_015565 NP_056380 O94822 LTN1_HUMAN zinc finger protein 294 Error:Variant_position_missing_in_O94822_after_alignment ligase activity|zinc ion binding 0 CCGGTTGACACGTCCGGGACA 0.622 NaN 1 0 0.000229342 0.608945 0.000234675 22 44 TMEM50B 757 broad.mit.edu 37 21 34823156 34823156 + Missense_Mutation SNP T T C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr21:34823156T>C uc002yrt.1 - 7 624 c.446A>G c.(445-447)AAA>AGA p.K149R TMEM50B_uc002yrs.1_RNA|TMEM50B_uc010gmb.1_RNA NM_006134 NP_006125 P56557 TM50B_HUMAN transmembrane protein 50B 149 endoplasmic reticulum|integral to membrane|plasma membrane ovary(1)|skin(1) 2 TCTTCCAAATTTGTAGATCAG 0.348 NaN 0 0 0 0.840704 0 38 45 CECR6 27439 broad.mit.edu 37 22 17600373 17600373 + Nonsense_Mutation SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr22:17600373G>A uc002zmb.2 - 1 1841 c.1645C>T c.(1645-1647)CAG>TAG p.Q549* CECR6_uc002zma.2_Nonsense_Mutation_p.Q194*|uc002zmc.2_5'Flank NM_031890 NP_114096 Q9BXQ6 CECR6_HUMAN cat eye syndrome chromosome region, candidate 6 549 0 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.221) GAGCCTCCCTGAGGTGGTGGC 0.687 NaN 0 0 0 0.335167 0 8 20 GNAZ 2781 broad.mit.edu 37 22 23438310 23438310 + Missense_Mutation SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr22:23438310G>A uc002zwu.1 + 2 965 c.428G>A c.(427-429)CGC>CAC p.R143H RTDR1_uc002zwt.2_Intron NM_002073 NP_002064 P19086 GNAZ_HUMAN guanine nucleotide binding protein, alpha z 143 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity kidney(1)|skin(1) 2 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) TGCTTCAGCCGCTCCAGCGAG 0.657 NaN 0 0 0 0.361761 0 7 140 MTP18 51537 broad.mit.edu 37 22 30822725 30822725 + Missense_Mutation SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr22:30822725G>A uc003ahw.1 + 2 236 c.88G>A c.(88-90)GAG>AAG p.E30K SEC14L2_uc010gvw.1_Intron|MTP18_uc010gvx.1_Intron|MTP18_uc003ahv.1_Missense_Mutation_p.E192K|MTP18_uc010gvy.1_Intron|MTP18_uc003ahx.1_Missense_Mutation_p.E30K NM_016498 NP_057582 Q9UDX5 MTFP1_HUMAN mitochondrial protein 18 kDa isoform a 30 apoptosis|carbon utilization integral to membrane|mitochondrial inner membrane carbonate dehydratase activity|zinc ion binding 0 TGAGGTGGGCGAGGCTTTCCG 0.502 NaN OREG0026460 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.870114 0 37 73 HMGXB4 10042 broad.mit.edu 37 22 35684398 35684398 + Missense_Mutation SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr22:35684398G>A uc003anl.2 + 9 1810 c.1636G>A c.(1636-1638)GAG>AAG p.E546K HMGXB4_uc003ank.2_Missense_Mutation_p.E437K NM_001003681 NP_001003681 Q9UGU5 HMGX4_HUMAN high-mobility group protein 2-like 1 546 endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway NURF complex DNA binding breast(1)|skin(1) 2 GCAGGAAACTGAGGTGAATAC 0.348 NaN 0 0 0 0.681144 0 25 53 C22orf9 23313 broad.mit.edu 37 22 45601515 45601515 + Missense_Mutation SNP G G T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr22:45601515G>T uc003bfx.1 - 4 476 c.410C>A c.(409-411)TCT>TAT p.S137Y C22orf9_uc010gzw.1_5'UTR|C22orf9_uc003bfv.1_Missense_Mutation_p.S146Y|C22orf9_uc003bfw.1_Missense_Mutation_p.S142Y|C22orf9_uc010gzx.2_Missense_Mutation_p.S119Y NM_001009880 NP_001009880 Q6ICG6 K0930_HUMAN hypothetical protein LOC23313 isoform b 137 protein binding 0 Ovarian(80;0.00965)|all_neural(38;0.0244) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|READ - Rectum adenocarcinoma(1;0.000617)|Colorectal(1;0.0024) GCTCACCTGAGATTTCTTCTT 0.597 NaN 1 0 7.63091e-17 0.834066 8.09061e-17 41 81 IL5RA 3568 broad.mit.edu 37 3 3144421 3144421 + Missense_Mutation SNP G G C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr3:3144421G>C uc011ask.1 - 5 810 c.166C>G c.(166-168)CAA>GAA p.Q56E IL5RA_uc010hbq.2_Missense_Mutation_p.Q56E|IL5RA_uc010hbr.2_Missense_Mutation_p.Q56E|IL5RA_uc010hbs.2_Missense_Mutation_p.Q56E|IL5RA_uc011asl.1_Missense_Mutation_p.Q56E|IL5RA_uc011asm.1_Missense_Mutation_p.Q56E|IL5RA_uc010hbt.2_Missense_Mutation_p.Q56E|IL5RA_uc011asn.1_Missense_Mutation_p.Q56E|IL5RA_uc010hbu.2_Missense_Mutation_p.Q56E NM_000564 NP_000555 Q01344 IL5RA_HUMAN interleukin 5 receptor, alpha isoform 1 56 Extracellular (Potential). cell proliferation extracellular space|integral to membrane|plasma membrane interleukin-5 receptor activity ovary(1) 1 Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944) CTTTGCTCTTGATCAGGATTT 0.333 NaN 0 0 0 0.575678 0 20 27 SCN10A 6336 broad.mit.edu 37 3 38739749 38739749 + Silent SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr3:38739749G>A uc003ciq.2 - 27 4962 c.4962C>T c.(4960-4962)CTC>CTT p.L1654L NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 1654 IV. sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TAATCTGGAAGAGGCACAGCA 0.582 NaN 0 0 0 0.870114 0 48 88 PROS1 5627 broad.mit.edu 37 3 93646147 93646147 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr3:93646147C>T uc003drb.3 - 2 522 c.181G>A c.(181-183)GAA>AAA p.E61K PROS1_uc010hoo.2_5'UTR|PROS1_uc003dqz.3_5'UTR NM_000313 NP_000304 P07225 PROS_HUMAN protein S, alpha preproprotein 61 Gla. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity large_intestine(1) 1 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) TTGCACAGTTCTTCGATGCAT 0.413 NaN 0 0 0 0.740014 0 31 75 IFT122 55764 broad.mit.edu 37 3 129195584 129195584 + Missense_Mutation SNP T T A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr3:129195584T>A uc003emm.2 + 11 1293 c.1087T>A c.(1087-1089)TAT>AAT p.Y363N IFT122_uc003eml.2_Missense_Mutation_p.Y414N|IFT122_uc003emn.2_Missense_Mutation_p.Y304N|IFT122_uc003emo.2_Missense_Mutation_p.Y252N|IFT122_uc003emp.2_Missense_Mutation_p.Y213N|IFT122_uc010htc.2_Missense_Mutation_p.Y355N|IFT122_uc011bky.1_Missense_Mutation_p.Y154N|IFT122_uc003emq.2_Missense_Mutation_p.Y203N|IFT122_uc003emr.2_Missense_Mutation_p.Y154N|IFT122_uc011bla.1_Missense_Mutation_p.Y154N|IFT122_uc011bkx.1_Missense_Mutation_p.Y203N|IFT122_uc011bkz.1_RNA NM_052989 NP_443715 Q9HBG6 IF122_HUMAN WD repeat domain 10 isoform 2 363 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium ovary(1)|skin(1) 2 CAAGGACCGCTATGCCTACAG 0.547 NaN 0 0 0 0.870114 0 54 89 ABCC5 10057 broad.mit.edu 37 3 183689484 183689484 + Missense_Mutation SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr3:183689484G>A uc003fmg.2 - 11 1793 c.1628C>T c.(1627-1629)GCA>GTA p.A543V ABCC5_uc011bqt.1_Missense_Mutation_p.A71V|ABCC5_uc010hxl.2_Missense_Mutation_p.A543V NM_005688 NP_005679 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C, member 5 543 integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TTTCTGCTCTGCCAGCACCGC 0.597 NaN 0 0 0 0.870114 0 49 100 C3orf59 151963 broad.mit.edu 37 3 192516318 192516318 + Missense_Mutation SNP C C G TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr3:192516318C>G uc011bsp.1 - 2 1654 c.1333G>C c.(1333-1335)GGG>CGG p.G445R NM_178496 NP_848591 Q8IYB1 M21D2_HUMAN hypothetical protein LOC151963 445 0 all_cancers(143;1.56e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06) GBM - Glioblastoma multiforme(46;3.86e-05) TTGGGGTCCCCTCCGTCAGAC 0.567 NaN 0 0 0 0.870114 0 69 217 PPARGC1A 10891 broad.mit.edu 37 4 23814419 23814419 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr4:23814419C>T uc003gqs.2 - 10 2090 c.1970G>A c.(1969-1971)CGA>CAA p.R657Q PPARGC1A_uc003gqt.2_RNA NM_013261 NP_037393 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor 657 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding ovary(2)|lung(2)|kidney(2)|skin(2) 8 Breast(46;0.0503) CTCAGACTCTCGCTTCTCATA 0.453 NaN 0 0 0 0.870114 0 68 97 PPARGC1A 10891 broad.mit.edu 37 4 23815883 23815883 + Missense_Mutation SNP C C G TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr4:23815883C>G uc003gqs.2 - 8 1343 c.1223G>C c.(1222-1224)AGA>ACA p.R408T PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA NM_013261 NP_037393 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor 408 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding ovary(2)|lung(2)|kidney(2)|skin(2) 8 Breast(46;0.0503) TTCTAGTTGTCTAGAGTCTTG 0.448 NaN 0 0 0 0.608945 0 22 40 SDAD1 55153 broad.mit.edu 37 4 76882456 76882456 + Missense_Mutation SNP T T C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr4:76882456T>C uc003hje.3 - 15 1306 c.1187A>G c.(1186-1188)AAT>AGT p.N396S SDAD1_uc003hjf.3_Missense_Mutation_p.N299S|SDAD1_uc011cbr.1_Missense_Mutation_p.N359S NM_018115 NP_060585 Q9NVU7 SDA1_HUMAN SDA1 domain containing 1 396 N -> S (in Ref. 1; CAH18368). protein transport|ribosomal large subunit biogenesis nucleolus protein binding ovary(1) 1 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) CTTTATAGCATTGATTCTAGA 0.368 NaN 0 0 0 0.864702 0 44 59 GAB1 2549 broad.mit.edu 37 4 144359278 144359278 + Missense_Mutation SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr4:144359278G>A uc003ije.2 + 4 1079 c.720G>A c.(718-720)ATG>ATA p.M240I GAB1_uc003ijd.2_Missense_Mutation_p.M240I|GAB1_uc011chq.1_Missense_Mutation_p.M137I NM_002039 NP_002030 Q13480 GAB1_HUMAN GRB2-associated binding protein 1 isoform b 240 cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol SH3/SH2 adaptor activity breast(2)|lung(1)|skin(1) 4 all_hematologic(180;0.158) AGCAGCAAATGATATACGACT 0.448 NaN 0 0 0 0.654019 0 23 42 FGG 2266 broad.mit.edu 37 4 155530854 155530854 + Silent SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr4:155530854C>T uc003ioj.2 - 6 735 c.594G>A c.(592-594)CTG>CTA p.L198L FGG_uc003iog.2_Silent_p.L198L|FGG_uc003ioh.2_Silent_p.L206L|FGG_uc010ipx.2_Silent_p.L26L|FGG_uc010ipy.2_5'UTR|FGG_uc003ioi.2_5'UTR|FGG_uc003iok.2_Silent_p.L206L NM_021870 NP_068656 P02679 FIBG_HUMAN fibrinogen, gamma chain isoform gamma-B 198 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding 0 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) GGTTAGCTTTCAGAGGTTTAA 0.393 NaN 0 0 0 0.796494 0 36 76 KIAA1430 57587 broad.mit.edu 37 4 186111887 186111887 + Missense_Mutation SNP G G C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr4:186111887G>C uc003ixf.3 - 2 611 c.464C>G c.(463-465)TCT>TGT p.S155C KIAA1430_uc003ixg.2_Missense_Mutation_p.S155C NM_020827 NP_065878 Q9P2B7 K1430_HUMAN hypothetical protein LOC57587 155 0 all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165) AACGTTAGTAGATGGTTTAGC 0.299 NaN 0 0 0 0.27861 0 7 15 POLK 51426 broad.mit.edu 37 5 74865308 74865308 + Missense_Mutation SNP G G C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr5:74865308G>C uc003kdw.2 + 4 495 c.399G>C c.(397-399)ATG>ATC p.M133I POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc003kdz.2_Missense_Mutation_p.M133I|POLK_uc003kea.2_Missense_Mutation_p.M133I|POLK_uc003keb.2_Missense_Mutation_p.M133I|POLK_uc010izq.2_Missense_Mutation_p.M133I|POLK_uc003kec.2_Missense_Mutation_p.M43I|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Missense_Mutation_p.M43I|POLK_uc003kee.2_Missense_Mutation_p.M133I|POLK_uc003kef.2_Missense_Mutation_p.M43I NM_016218 NP_057302 Q9UBT6 POLK_HUMAN DNA-directed DNA polymerase kappa 133 UmuC. DNA replication|nucleotide-excision repair, DNA gap filling nucleus damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding ovary(2)|kidney(2) 4 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42) TAGGATCAATGAGTATGCTGG 0.348 NaN DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 0 0 0 0.592651 0 20 33 PSD2 84249 broad.mit.edu 37 5 139215325 139215325 + Missense_Mutation SNP C C G TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr5:139215325C>G uc003leu.1 + 9 1582 c.1377C>G c.(1375-1377)ATC>ATG p.I459M NM_032289 NP_115665 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 459 SEC7. regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAACTCCATCAAGAATGAAA 0.527 NaN 0 0 0 0.870114 0 287 476 PCDHB3 56132 broad.mit.edu 37 5 140482583 140482583 + Missense_Mutation SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr5:140482583G>A uc003lio.2 + 1 2350 c.2350G>A c.(2350-2352)GAG>AAG p.E784K uc003lin.2_5'Flank NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 precursor 784 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGGGTTAGCGAGGCAAATCC 0.458 NaN 0 0 0 0.870114 0 105 187 PCDHGA8 9708 broad.mit.edu 37 5 140774176 140774176 + Missense_Mutation SNP G G T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr5:140774176G>T uc003lkd.1 + 1 2694 c.1796G>T c.(1795-1797)GGC>GTC p.G599V 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_uc003lkb.3_Missense_Mutation_p.G599V NM_032088 NP_114477 Q9Y5G5 PCDG8_HUMAN protocadherin gamma subfamily A, 8 isoform 1 599 Extracellular (Potential).|Cadherin 6. 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) AGAGACTCGGGCCAGAACGCC 0.706 NaN 1 0 3.27435e-08 0.457914 3.37009e-08 14 153 NSD1 64324 broad.mit.edu 37 5 176709524 176709524 + Missense_Mutation SNP G G T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 G T G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr5:176709524G>T uc003mfr.3 + 19 6089 c.5951G>T c.(5950-5952)CGA>CTA p.R1984L NSD1_uc003mft.3_Missense_Mutation_p.R1715L|NSD1_uc011dfx.1_Missense_Mutation_p.R1632L NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1984 SET. R -> Q (in SOTOSS; loss of enzyme activity). negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) TGCAGAGCTCGAATTCGCTAT 0.373 NaN T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 1 0 4.09166e-32 0.870114 4.67618e-32 76 111 BRD2 6046 broad.mit.edu 37 6 32944408 32944408 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr6:32944408C>T uc003ocn.3 + 7 2596 c.895C>T c.(895-897)CCA>TCA p.P299S BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Missense_Mutation_p.P299S|BRD2_uc003ocp.3_Missense_Mutation_p.P179S|BRD2_uc010juh.2_Missense_Mutation_p.P299S NM_005104 NP_005095 P25440 BRD2_HUMAN bromodomain containing 2 299 spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 TCCTGGTTCTCCAGCTAGCCC 0.552 NaN 0 0 0 0.870114 0 82 141 MAPK14 1432 broad.mit.edu 37 6 36067964 36067964 + Splice_Site SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr6:36067964G>A uc003olp.2 + 9 1164 c.683_splice c.e9-1 p.H228_splice MAPK14_uc003olo.2_Intron|MAPK14_uc003olq.2_Intron|MAPK14_uc003olr.2_Intron|MAPK14_uc011dti.1_Intron NM_001315 NP_001306 Q16539 MK14_HUMAN mitogen-activated protein kinase 14 isoform 1 activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|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|MAP kinase activity|MAP kinase kinase activity|protein binding ovary(2)|stomach(1)|lung(1)|central_nervous_system(1)|skin(1) 6 AGGCATCTAAGATATTAACCA 0.403 NaN 0 0 0 0.870114 0 63 108 MRPL14 64928 broad.mit.edu 37 6 44081613 44081613 + Silent SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr6:44081613G>A uc003owp.2 - 3 534 c.405C>T c.(403-405)TCC>TCT p.S135S NM_032111 NP_115487 Q6P1L8 RM14_HUMAN mitochondrial ribosomal protein L14 precursor 135 translation mitochondrion|ribosome structural constituent of ribosome ovary(1) 1 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181) CCAGCACCTTGGAATACTCGC 0.552 NaN 0 0 0 0.859065 0 46 63 MDN1 23195 broad.mit.edu 37 6 90428326 90428326 + Nonsense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr6:90428326C>T uc003pnn.1 - 43 6458 c.6342G>A c.(6340-6342)TGG>TGA p.W2114* NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 2114 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GCAGCCTCCTCCAAGGTCGTA 0.473 NaN 0 0 0 0.706142 0 26 53 TNFAIP3 7128 broad.mit.edu 37 6 138192400 138192400 + Missense_Mutation SNP G G C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr6:138192400G>C uc003qhr.2 + 2 102 c.36G>C c.(34-36)TTG>TTC p.L12F TNFAIP3_uc003qhs.2_Missense_Mutation_p.L12F NM_006290 NP_006281 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 12 anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(22) haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1) 137 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) CTTTGTATTTGAGCAATATGC 0.388 NaN D|N|F marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma OREG0031869 type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET) 0 0 0 0.870114 0 88 136 MAGI2 9863 broad.mit.edu 37 7 77797280 77797280 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr7:77797280C>T uc003ugx.2 - 15 2803 c.2549G>A c.(2548-2550)CGC>CAC p.R850H MAGI2_uc003ugy.2_Missense_Mutation_p.R836H|MAGI2_uc010ldx.1_Missense_Mutation_p.R443H NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 850 PDZ 4. cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) CTGCCCATTGCGGGCTGCGTG 0.547 NaN 0 0 0 0.870114 0 82 145 CNPY4 245812 broad.mit.edu 37 7 99722457 99722457 + Silent SNP A A G TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr7:99722457A>G uc003uto.2 + 6 796 c.693A>G c.(691-693)GGA>GGG p.G231G MBLAC1_uc003utp.2_5'Flank NM_152755 NP_689968 Q8N129 CNPY4_HUMAN canopy 4 homolog precursor 231 extracellular region 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) aggaaggggGAGACAAGATGA 0.388 NaN 0 0 0 0.870114 0 181 260 LMOD2 442721 broad.mit.edu 37 7 123302716 123302716 + Missense_Mutation SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr7:123302716G>A uc003vky.2 + 2 1233 c.1076G>A c.(1075-1077)CGT>CAT p.R359H NM_207163 NP_997046 Q6P5Q4 LMOD2_HUMAN leiomodin 2 (cardiac) 359 cytoskeleton actin binding|tropomyosin binding 0 AGGCAAAAACGTTTGCAGGAG 0.463 NaN 0 0 0 0.870114 0 58 77 UBE3C 9690 broad.mit.edu 37 7 157060438 157060438 + Missense_Mutation SNP G G C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr7:157060438G>C uc010lqs.2 + 23 3553 c.3241G>C c.(3241-3243)GAG>CAG p.E1081Q UBE3C_uc003wni.3_Missense_Mutation_p.E444Q NM_014671 NP_055486 Q15386 UBE3C_HUMAN ubiquitin protein ligase E3C 1081 HECT. protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(2)|large_intestine(1) 5 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) CGCTGGCTTTGAGCTGAGCTG 0.547 NaN 0 0 0 0.870114 0 104 130 ZFHX4 79776 broad.mit.edu 37 8 77767336 77767336 + Missense_Mutation SNP T T C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr8:77767336T>C uc003yav.2 + 10 8431 c.8044T>C c.(8044-8046)TAC>CAC p.Y2682H ZFHX4_uc003yau.1_Missense_Mutation_p.Y2727H|ZFHX4_uc003yaw.1_Missense_Mutation_p.Y2682H NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2682 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) CCCACAGAAATACATCTATTT 0.428 NaN HNSCC(33;0.089) 0 0 0 0.411799 0 13 40 UBR5 51366 broad.mit.edu 37 8 103277452 103277452 + Missense_Mutation SNP C C G TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr8:103277452C>G uc003ykr.1 - 53 7510 c.7477G>C c.(7477-7479)GAT>CAT p.D2493H UBR5_uc003yks.1_Missense_Mutation_p.D2492H|UBR5_uc003ykq.2_Missense_Mutation_p.D4H NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 2493 Asp/Glu-rich (acidic).|HECT. cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding p.D2493V(1) lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TCTGTATCATCTAAATCCATA 0.423 NaN 0 0 0 0.870114 0 78 38 ODF1 4956 broad.mit.edu 37 8 103564035 103564035 + Missense_Mutation SNP G G T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr8:103564035G>T uc003ykt.2 + 1 188 c.80G>T c.(79-81)TGC>TTC p.C27F NM_024410 NP_077721 Q14990 ODFP1_HUMAN outer dense fiber of sperm tails 1 27 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) CAACTGAGATGCATCGACGAA 0.483 NaN 1 0 3.12118e-38 0.870114 3.614e-38 79 285 AZIN1 51582 broad.mit.edu 37 8 103851004 103851004 + Silent SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr8:103851004C>T uc003ykx.2 - 6 1159 c.417G>A c.(415-417)TTG>TTA p.L139L AZIN1_uc003yky.2_Silent_p.L139L NM_015878 NP_056962 O14977 AZIN1_HUMAN ornithine decarboxylase antizyme inhibitor 139 polyamine biosynthetic process|regulation of cellular amino acid metabolic process cytosol catalytic activity|protein binding 0 Lung NSC(17;0.000143)|all_lung(17;0.000294) OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414) CAATTTTCTTCAATTCAATTT 0.328 NaN 0 0 0 0.624587 0 22 79 CSMD3 114788 broad.mit.edu 37 8 113694715 113694715 + Missense_Mutation SNP A A C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr8:113694715A>C uc003ynu.2 - 16 2792 c.2633T>G c.(2632-2634)ATG>AGG p.M878R CSMD3_uc003yns.2_Missense_Mutation_p.M150R|CSMD3_uc003ynt.2_Missense_Mutation_p.M838R|CSMD3_uc011lhx.1_Missense_Mutation_p.M774R NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 878 Sushi 4.|Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TTTTCCATCCATAAGAATACA 0.358 NaN HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 0 0 0 0.870114 0 53 114 TAF2 6873 broad.mit.edu 37 8 120807793 120807793 + Missense_Mutation SNP C C A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr8:120807793C>A uc003you.2 - 9 1440 c.1170G>T c.(1168-1170)GAG>GAT p.E390D NM_003184 NP_003175 Q6P1X5 TAF2_HUMAN TBP-associated factor 2 390 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding large_intestine(2)|ovary(2)|kidney(1)|skin(1) 6 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) AATGGCGGTACTCATTAACAC 0.343 NaN 1 0 8.60227e-14 0.500413 8.95858e-14 17 74 BAI1 575 broad.mit.edu 37 8 143565371 143565371 + Missense_Mutation SNP G G C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr8:143565371G>C uc003ywm.2 + 11 2347 c.2164G>C c.(2164-2166)GAG>CAG p.E722Q NM_001702 NP_001693 O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 722 Extracellular (Potential). axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1) 8 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CCTGTTGGCAGAGGAGAATCG 0.587 NaN 0 0 0 0.870114 0 93 461 ZNF250 58500 broad.mit.edu 37 8 146108082 146108082 + Silent SNP C C G TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr8:146108082C>G uc003zeq.3 - 6 618 c.501G>C c.(499-501)CTG>CTC p.L167L COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.3_Silent_p.L162L|ZNF250_uc010mgg.2_Silent_p.L162L NM_021061 NP_066405 P15622 ZN250_HUMAN zinc finger protein 250 isoform a 167 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.0654) AGTTTGGACTCAGACAGAAGC 0.478 NaN 0 0 0 0.870114 0 110 371 TPM2 7169 broad.mit.edu 37 9 35685657 35685657 + Missense_Mutation SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr9:35685657C>T uc003zxq.2 - 3 600 c.361G>A c.(361-363)GAT>AAT p.D121N TPM2_uc003zxr.2_Missense_Mutation_p.D121N|TPM2_uc003zxs.2_Missense_Mutation_p.D121N|TPM2_uc010mkz.2_Missense_Mutation_p.D121N|TPM2_uc011lpa.1_Missense_Mutation_p.D121N NM_213674 NP_998839 P07951 TPM2_HUMAN tropomyosin 2 (beta) isoform 2 121 By similarity. muscle filament sliding|regulation of ATPase activity cytosol|muscle thin filament tropomyosin actin binding|structural constituent of muscle ovary(1) 1 all_epithelial(49;0.121) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TCGCTCTCATCAGCCGCCTTC 0.672 NaN 0 0 0 0.870114 0 84 112 ALG2 85365 broad.mit.edu 37 9 101984145 101984145 + Missense_Mutation SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr9:101984145G>A uc004azf.2 - 1 102 c.32C>T c.(31-33)TCG>TTG p.S11L ALG2_uc004azg.2_5'UTR|SEC61B_uc004azh.2_5'Flank NM_033087 NP_149078 Q9H553 ALG2_HUMAN alpha-1,3-mannosyltransferase ALG2 11 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding ovary(2) 2 Acute lymphoblastic leukemia(62;0.0559) CTTGGGAACCGAGTCCCGTTC 0.726 NaN 0 0 0 0.557998 0 18 27 SNX30 401548 broad.mit.edu 37 9 115600917 115600917 + Silent SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr9:115600917C>T uc004bgj.3 + 6 1102 c.954C>T c.(952-954)GAC>GAT p.D318D SNX30_uc004bgi.3_5'UTR NM_001012994 NP_001013012 Q5VWJ9 SNX30_HUMAN sorting nexin family member 30 318 cell communication|protein transport cytoplasm phosphatidylinositol binding 0 TGACAGATGACATGACAGAAG 0.483 NaN 0 0 0 0.827153 0 38 98 AR 367 broad.mit.edu 37 X 66765006 66765006 + Silent SNP G G A TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chrX:66765006G>A uc004dwu.1 + 1 1133 c.18G>A c.(16-18)GGG>GGA p.G6G AR_uc011mpd.1_Silent_p.G6G|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Silent_p.G6G NM_000044 NP_000035 P10275 ANDR_HUMAN androgen receptor isoform 1 6 Modulating. cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding ovary(3)|lung(2)|breast(2)|central_nervous_system(1) 8 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) TGCAGTTAGGGCTGGGAAGGG 0.577 NaN Androgen_Insensitivity_Syndrome 0 0 0 0.827153 0 37 8 KIAA1210 57481 broad.mit.edu 37 X 118220587 118220587 + Missense_Mutation SNP A A G TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chrX:118220587A>G uc004era.3 - 11 4606 c.4606T>C c.(4606-4608)TCT>CCT p.S1536P NM_020721 NP_065772 Q9ULL0 K1210_HUMAN hypothetical protein LOC57481 1536 ovary(4)|skin(1) 5 GCAACGTAAGATATTTTGGTG 0.512 NaN 0 0 0 0.870114 0 53 15 ARID1A 8289 broad.mit.edu 37 1 27105930 27105931 + Frame_Shift_Ins INS - - G rs140055856 TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr1:27105930_27105931insG uc001bmv.1 + 20 5914_5915 c.5541_5542insG c.(5539-5544)GGTGGGfs p.G1847fs ARID1A_uc001bmu.1_Frame_Shift_Ins_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Ins_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Ins_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Ins_p.G89fs NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1847_1848 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.G1848fs*6(3)|p.G1847fs*36(1) ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GGCGGATTGGTGGGGGGGACAC 0.579 NaN Mis|N|F|S|D clear cell ovarian carcinoma|RCC NaN NaN NaN NaN NaN 70 100 --- --- SLC24A1 9187 broad.mit.edu 37 15 65918024 65918025 + Frame_Shift_Ins INS - - T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr15:65918024_65918025insT uc010ujf.1 + 2 1893_1894 c.1606_1607insT c.(1606-1608)ATTfs p.I536fs SLC24A1_uc010ujd.1_Frame_Shift_Ins_p.I536fs|SLC24A1_uc010uje.1_Frame_Shift_Ins_p.I536fs|SLC24A1_uc010ujg.1_Frame_Shift_Ins_p.I536fs|SLC24A1_uc010ujh.1_Frame_Shift_Ins_p.I536fs NM_004727 NP_004718 O60721 NCKX1_HUMAN solute carrier family 24 536 Helical; (Potential). response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity 0 TGTGTTCAACATTCTCTTTGTC 0.525 NaN NaN NaN NaN NaN NaN 69 150 --- --- NDE1 54820 broad.mit.edu 37 16 15790770 15790770 + Frame_Shift_Del DEL G G - TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr16:15790770delG uc002ddt.1 + 7 1043 c.1000delG c.(1000-1002)GGCfs p.G334fs NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron NM_017668 NP_060138 Q9NXR1 NDE1_HUMAN nuclear distribution gene E homolog 1 Error:Variant_position_missing_in_Q9NXR1_after_alignment cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome microtubule binding ovary(1) 1 GCCTGCCCCAGGCAAGAGACA 0.552 NaN NaN NaN NaN NaN NaN 18 27 --- --- CNOT1 23019 broad.mit.edu 37 16 58619315 58619316 + Frame_Shift_Del DEL CT CT - TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr16:58619315_58619316delCT uc002env.2 - 8 1025_1026 c.732_733delAG c.(730-735)GGAGGGfs p.G244fs CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Frame_Shift_Del_p.G244fs|CNOT1_uc002enx.2_Frame_Shift_Del_p.G244fs|CNOT1_uc002enz.1_Intron NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 244_245 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) TTAGCTACCCCTCCGGAATCAG 0.465 NaN NaN NaN NaN NaN NaN 62 169 --- --- VEZF1 7716 broad.mit.edu 37 17 56056586 56056587 + In_Frame_Ins INS - - TGT TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr17:56056586_56056587insTGT uc002ivf.1 - 5 1207_1208 c.1064_1065insACA c.(1063-1065)CAT>CAACAT p.354_355insQ VEZF1_uc010dcn.1_In_Frame_Ins_p.204_205insQ NM_007146 NP_009077 Q14119 VEZF1_HUMAN zinc finger protein 161 354_355 cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding ovary(1)|breast(1) 2 AGCTTGTCACAtgttgttgttg 0.317 NaN NaN NaN NaN NaN NaN 7 480 --- --- DOCK6 57572 broad.mit.edu 37 19 11348960 11348960 + Frame_Shift_Del DEL G G - rs12609039 by1000genomes TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr19:11348960delG uc002mqs.3 - 15 1705 c.1664delC c.(1663-1665)CCGfs p.P555fs DOCK6_uc010xlq.1_5'Flank|LOC55908_uc010dxw.2_Intron|LOC55908_uc010dxx.2_Intron NM_020812 NP_065863 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 555 DHR-1. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 GAGGCTGTGCGGGTACACGTA 0.647 NaN NaN NaN NaN NaN NaN 22 48 --- --- FFAR2 2867 broad.mit.edu 37 19 35940788 35940790 + In_Frame_Del DEL CTG CTG - TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr19:35940788_35940790delCTG uc002nzg.2 + 2 252_254 c.172_174delCTG c.(172-174)CTGdel p.L62del FFAR2_uc010eea.2_In_Frame_Del_p.L62del NM_005306 NP_005297 O15552 FFAR2_HUMAN free fatty acid receptor 2 62 Helical; Name=2; (Potential). integral to plasma membrane G-protein coupled receptor activity|lipid binding central_nervous_system(1) 1 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CGACCTCCTCCTGCTGCTGCTGC 0.645 NaN NaN NaN NaN NaN NaN 7 135 --- --- TBP 6908 broad.mit.edu 37 6 170871013 170871014 + In_Frame_Ins INS - - CAG rs72320253 TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr6:170871013_170871014insCAG uc003qxt.2 + 3 421_422 c.189_190insCAG c.(187-192)insCAG p.95_96insQ TBP_uc003qxu.2_In_Frame_Ins_p.95_96insQ|TBP_uc011ehf.1_In_Frame_Ins_p.75_76insQ|TBP_uc011ehg.1_In_Frame_Ins_p.95_96insQ NM_003194 NP_003185 P20226 TBP_HUMAN TATA box binding protein 95_96 cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding ovary(1) 1 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcaacaacaacagcagcagca 0.183 NaN NaN NaN NaN NaN NaN 34 84 --- --- MLL3 58508 broad.mit.edu 37 7 151873966 151873967 + Frame_Shift_Ins INS - - AG TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 - AG - - Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr7:151873966_151873967insAG uc003wla.2 - 38 8790_8791 c.8571_8572insCT c.(8569-8574)TCTGCTfs p.S2857fs MLL3_uc003wkz.2_Frame_Shift_Ins_p.S1918fs|MLL3_uc003wky.2_Frame_Shift_Ins_p.S366fs NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 2857_2858 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TCTGAGTGAGCAGAAGCCTGTG 0.411 NaN N medulloblastoma NaN NaN NaN NaN NaN 48 119 --- --- OSR2 116039 broad.mit.edu 37 8 99961401 99961402 + Frame_Shift_Ins INS - - G TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr8:99961401_99961402insG uc003yir.2 + 2 756_757 c.221_222insG c.(220-222)GCGfs p.A74fs OSR2_uc010mbn.2_Frame_Shift_Ins_p.A74fs|OSR2_uc003yiq.2_Frame_Shift_Ins_p.A74fs|OSR2_uc011lgx.1_Frame_Shift_Ins_p.A195fs NM_001142462 NP_001135934 Q8N2R0 OSR2_HUMAN odd-skipped related 2 isoform a 74 bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|zinc ion binding central_nervous_system(1) 1 Breast(36;4.14e-07) OV - Ovarian serous cystadenocarcinoma(57;0.0136) GAGATGGCGGCGGCGCAGGGCC 0.649 NaN NaN NaN NaN NaN NaN 8 510 --- --- C9orf150 286343 broad.mit.edu 37 9 12775861 12775862 + In_Frame_Ins INS - - GGCGGCGGC rs139315731 by1000genomes TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx abd2d959-d5ed-4eb3-9759-67eb1aa23325 3ddb747a-54ce-430d-9b95-efb61ff3d1bf g.chr9:12775861_12775862insGGCGGCGGC uc003zkw.2 + 1 850_851 c.147_148insGGCGGCGGC c.(145-150)insGGCGGCGGC p.55_56insGGG NM_203403 NP_981948 Q8IV03 CI150_HUMAN hypothetical protein LOC286343 58_59 Gly-rich. 0 GBM - Glioblastoma multiforme(1;1.64e-13) gcggtggtggtggcggcggcgg 0.505 NaN NaN NaN NaN NaN NaN 10 11 --- ---