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 PRKCZ 5590 broad.mit.edu 37 1 2077537 2077537 + Missense_Mutation SNP G G C rs143367104 TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr1:2077537G>C uc001aiq.2 + 7 785 c.624G>C c.(622-624)GAG>GAC p.E208D PRKCZ_uc001air.2_Missense_Mutation_p.E25D|PRKCZ_uc010nyw.1_Missense_Mutation_p.E104D|PRKCZ_uc001ais.2_Missense_Mutation_p.E25D|PRKCZ_uc009vla.2_Missense_Mutation_p.E32D|PRKCZ_uc010nyx.1_RNA|PRKCZ_uc009vlb.2_Missense_Mutation_p.E21D NM_002744 NP_002735 Q05513 KPCZ_HUMAN protein kinase C, zeta isoform 1 208 anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation endosome ATP binding|protein kinase C activity|zinc ion binding central_nervous_system(4)|large_intestine(2) 6 all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213) CTTCCGAGGAGACAGATGGAA 0.582 NaN 0 0 0 6.4e-05 0 3 51 DFFA 1676 broad.mit.edu 37 1 10527261 10527261 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr1:10527261C>T uc001arj.2 - 3 525 c.427G>A c.(427-429)GAG>AAG p.E143K DFFA_uc001ark.2_Missense_Mutation_p.E143K NM_004401 NP_004392 O00273 DFFA_HUMAN DNA fragmentation factor, 45kDa, alpha 143 DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis cytosol|mitochondrion|nucleoplasm|plasma membrane deoxyribonuclease activity|identical protein binding 0 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487) AGGTCCTCCTCTGATAGGAGG 0.532 NaN 0 0 0 0.000175454 0 19 114 EPB41 2035 broad.mit.edu 37 1 29379626 29379626 + Silent SNP C C A rs145888614 byFrequency TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr1:29379626C>A uc001brm.1 + 11 1654 c.1647C>A c.(1645-1647)GTC>GTA p.V549V EPB41_uc001brg.1_Silent_p.V340V|EPB41_uc001brh.1_Silent_p.V340V|EPB41_uc001bri.1_Silent_p.V514V|EPB41_uc001brj.1_Silent_p.V340V|EPB41_uc009vtk.1_Silent_p.V513V|EPB41_uc001brk.2_Silent_p.V549V|EPB41_uc001brl.1_Silent_p.V549V|EPB41_uc009vtl.1_Silent_p.V340V|EPB41_uc009vtm.1_Silent_p.V182V NM_203342 NP_976217 P11171 41_HUMAN erythrocyte membrane protein band 4.1 549 Hydrophilic. blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton 1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton ovary(1) 1 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) CAGCAGCTGTCGATTCGGCAG 0.483 NaN 1 0 5.50884e-06 0.00010058 6.41337e-05 10 32 S100PBP 64766 broad.mit.edu 37 1 33292110 33292110 + Missense_Mutation SNP C C G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr1:33292110C>G uc001bvz.2 + 3 687 c.410C>G c.(409-411)TCT>TGT p.S137C S100PBP_uc001bwa.1_Missense_Mutation_p.S137C|S100PBP_uc001bwb.1_Missense_Mutation_p.S137C|S100PBP_uc001bwc.2_Missense_Mutation_p.S137C|S100PBP_uc001bwd.2_RNA NM_022753 NP_073590 Q96BU1 S1PBP_HUMAN S100P binding protein isoform a 137 nucleus calcium-dependent protein binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) AACAGACGCTCTGTACTAGAA 0.418 NaN 0 0 0 8.12818e-05 0 5 31 ERI3 79033 broad.mit.edu 37 1 44804820 44804820 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr1:44804820C>T uc001clt.2 - 3 627 c.386G>A c.(385-387)GGC>GAC p.G129D ERI3_uc010okv.1_Intron|ERI3_uc009vxg.2_Missense_Mutation_p.G129D|ERI3_uc010okw.1_Missense_Mutation_p.G51D|ERI3_uc001clu.2_Missense_Mutation_p.G51D NM_024066 NP_076971 O43414 ERI3_HUMAN prion protein interacting protein 129 intracellular exonuclease activity|metal ion binding|nucleic acid binding ovary(2)|large_intestine(1) 3 CATGGATGCGCCAAAGCCGTG 0.542 NaN 0 0 0 0.000308642 0 15 187 GBP5 115362 broad.mit.edu 37 1 89729593 89729593 + Silent SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr1:89729593C>T uc001dnc.2 - 9 1725 c.1188G>A c.(1186-1188)CGG>CGA p.R396R GBP5_uc001dnd.2_Silent_p.R396R|GBP5_uc001dne.1_Silent_p.R396R NM_052942 NP_443174 Q96PP8 GBP5_HUMAN guanylate-binding protein 5 396 plasma membrane GTP binding|GTPase activity ovary(1) 1 all cancers(265;0.00784)|Epithelial(280;0.0286) CTTCCAGGTTCCGTTTACAAA 0.383 NaN 0 0 0 0.000308642 0 15 122 S1PR1 1901 broad.mit.edu 37 1 101705363 101705363 + Missense_Mutation SNP C C G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr1:101705363C>G uc001dud.2 + 2 1337 c.823C>G c.(823-825)CTG>GTG p.L275V S1PR1_uc009weg.2_Missense_Mutation_p.L275V NM_001400 NP_001391 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 275 Helical; Name=6; (By similarity). cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity ovary(2)|lung(1) 3 GCTCTTCATCCTGCTCCTGCT 0.582 NaN 0 0 0 0.000319135 0 38 244 CTTNBP2NL 55917 broad.mit.edu 37 1 112998771 112998771 + Silent SNP A A G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr1:112998771A>G uc001ebx.2 + 6 885 c.657A>G c.(655-657)GAA>GAG p.E219E CTTNBP2NL_uc001ebz.2_5'Flank NM_018704 NP_061174 Q9P2B4 CT2NL_HUMAN CTTNBP2 N-terminal like 219 Potential. actin cytoskeleton protein binding central_nervous_system(2)|ovary(1) 3 all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AACTGGAAGAAGAGTTGGCAG 0.512 NaN 0 0 0 0.000442599 0 9 59 PDE4DIP 9659 broad.mit.edu 37 1 144859924 144859924 + Silent SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr1:144859924G>A uc001elw.3 - 38 6451 c.6160C>T c.(6160-6162)CTG>TTG p.L2054L 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_Silent_p.L1948L|PDE4DIP_uc001elv.3_Silent_p.L1061L NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 2054 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) TGCCCTCTCAGAGCTCGTACC 0.577 NaN T PDGFRB MPD 0 0 0 0.000274275 0 9 100 FLG 2312 broad.mit.edu 37 1 152284039 152284039 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr1:152284039C>T uc001ezu.1 - 3 3359 c.3323G>A c.(3322-3324)GGG>GAG p.G1108E uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1108 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGACCTTCCCCCTGACCAGTC 0.582 NaN Ichthyosis 0 0 0 0.000781405 0 57 258 CRTC2 200186 broad.mit.edu 37 1 153921053 153921053 + Missense_Mutation SNP C C G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr1:153921053C>G uc010ped.1 - 13 1812 c.1742G>C c.(1741-1743)GGG>GCG p.G581A DENND4B_uc001fdd.1_5'Flank|CRTC2_uc001fde.3_RNA|CRTC2_uc001fdf.3_Missense_Mutation_p.G117A NM_181715 NP_859066 Q53ET0 CRTC2_HUMAN CREB regulated transcription coactivator 2 581 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding ovary(2) 2 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) AAATCCAGGCCCTTCAGAAAA 0.567 NaN 0 0 0 0.000274275 0 8 109 CRTC2 200186 broad.mit.edu 37 1 153921067 153921067 + Silent SNP A A G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr1:153921067A>G uc010ped.1 - 13 1798 c.1728T>C c.(1726-1728)CCT>CCC p.P576P DENND4B_uc001fdd.1_5'Flank|CRTC2_uc001fde.3_RNA|CRTC2_uc001fdf.3_Silent_p.P112P NM_181715 NP_859066 Q53ET0 CRTC2_HUMAN CREB regulated transcription coactivator 2 576 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding ovary(2) 2 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CAGAAAAGCCAGGGGGATCCA 0.542 NaN 0 0 0 0.000673444 0 10 108 GON4L 54856 broad.mit.edu 37 1 155721969 155721969 + Silent SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr1:155721969C>T uc001flz.2 - 30 6352 c.6255G>A c.(6253-6255)GTG>GTA p.V2085V GON4L_uc001flx.1_5'Flank|GON4L_uc009wrg.1_RNA|GON4L_uc001fly.1_Silent_p.V2084V|GON4L_uc009wrh.1_Silent_p.V2084V|GON4L_uc001fma.1_Silent_p.V2085V NM_001037533 NP_001032622 Q3T8J9 GON4L_HUMAN gon-4-like isoform a 2085 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(3) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) CTCTTGTCTTCACCCGAGCTC 0.527 NaN 0 0 0 0.000308642 0 16 141 LAMB3 3914 broad.mit.edu 37 1 209799289 209799289 + Silent SNP G G C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr1:209799289G>C uc001hhg.2 - 13 2070 c.1680C>G c.(1678-1680)ACC>ACG p.T560T LAMB3_uc009xco.2_Silent_p.T560T|LAMB3_uc001hhh.2_Silent_p.T560T|LAMB3_uc010psl.1_Intron|hsa-mir-4260|MI0015859_5'Flank NM_001017402 NP_001017402 Q13751 LAMB3_HUMAN laminin, beta 3 precursor 560 Laminin EGF-like 6. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0519) AGCGGGGCCCGGTCAAGCCAG 0.647 NaN 0 0 0 0.000602214 0 5 57 SPATA17 128153 broad.mit.edu 37 1 217915425 217915425 + Silent SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr1:217915425C>T uc001hlh.1 + 6 530 c.504C>T c.(502-504)CTC>CTT p.L168L SPATA17_uc009xdr.1_RNA|SPATA17_uc001hli.2_Silent_p.L168L NM_138796 NP_620151 Q96L03 SPT17_HUMAN spermatogenesis associated 17 168 cytoplasm calmodulin binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) TGCATTACCTCCTCAGCACAA 0.473 NaN 0 0 0 8.12818e-05 0 7 85 CDC42BPA 8476 broad.mit.edu 37 1 227316871 227316871 + Silent SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr1:227316871G>A uc001hqr.2 - 11 2395 c.1452C>T c.(1450-1452)AGC>AGT p.S484S CDC42BPA_uc001hqs.2_Silent_p.S484S|CDC42BPA_uc009xes.2_Silent_p.S484S|CDC42BPA_uc010pvs.1_Silent_p.S484S NM_003607 NP_003598 Q5VT25 MRCKA_HUMAN CDC42-binding protein kinase alpha isoform B 484 Potential. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1) 11 all_cancers(173;0.156)|Prostate(94;0.0792) CTAAATCTTTGCTTGCTGTTA 0.289 NaN 0 0 0 0.000157383 0 7 62 PLD5 200150 broad.mit.edu 37 1 242253336 242253336 + Silent SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr1:242253336C>T uc001hzn.1 - 10 1558 c.1431G>A c.(1429-1431)AGG>AGA p.R477R PLD5_uc001hzl.3_Silent_p.R415R|PLD5_uc001hzm.3_Silent_p.R267R|PLD5_uc001hzo.1_Silent_p.R385R Q8N7P1 PLD5_HUMAN RecName: Full=Inactive phospholipase D5; Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc; 477 integral to membrane catalytic activity ovary(6) 6 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) TTCTGTTGTTCCTCACATCTG 0.423 NaN 0 0 0 8.12818e-05 0 6 98 OR2M2 391194 broad.mit.edu 37 1 248344190 248344190 + Silent SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr1:248344190C>T uc010pzf.1 + 1 903 c.903C>T c.(901-903)TTC>TTT p.F301F NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, 301 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CTAGAGCATTCATGAAGATCT 0.423 NaN 0 0 0 0.000175454 0 21 105 FAM171A1 221061 broad.mit.edu 37 10 15255261 15255261 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr10:15255261C>T uc001iob.2 - 8 2333 c.2326G>A c.(2326-2328)GAG>AAG p.E776K NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN hypothetical protein LOC221061 precursor 776 Cytoplasmic (Potential). integral to membrane ovary(2)|breast(1)|skin(1) 4 GCTCGAGGCTCTTTCTGCTGG 0.577 NaN 0 0 0 0.000308642 0 13 64 C10orf140 387640 broad.mit.edu 37 10 21805233 21805233 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr10:21805233C>T uc009xkd.2 - 4 3772 c.1519G>A c.(1519-1521)GAC>AAC p.D507N uc001iqp.1_RNA NM_207371 NP_997254 Q1XH10 DLN1_HUMAN hypothetical protein LOC387640 426 nucleus nucleotide binding ovary(1) 1 CTCTTGAGGTCGGGAAGTCTG 0.652 NaN 0 0 0 0.000422831 0 17 93 PIP4K2A 5305 broad.mit.edu 37 10 22828982 22828982 + Missense_Mutation SNP T T A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr10:22828982T>A uc001irl.3 - 9 1306 c.1058A>T c.(1057-1059)TAC>TTC p.Y353F PIP4K2A_uc010qcu.1_Missense_Mutation_p.Y213F NM_005028 NP_005019 P48426 PI42A_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type 353 PIPK. 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding ovary(1)|skin(1) 2 TGCCATGAAGTACACCTCCTT 0.478 NaN 0 0 0 0.000191422 0 37 91 CPEB3 22849 broad.mit.edu 37 10 93952323 93952323 + Missense_Mutation SNP G G C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr10:93952323G>C uc001khw.1 - 3 1249 c.1076C>G c.(1075-1077)ACT>AGT p.T359S CPEB3_uc001khu.1_Missense_Mutation_p.T359S|CPEB3_uc001khv.1_Missense_Mutation_p.T359S|CPEB3_uc010qnn.1_Missense_Mutation_p.T359S NM_014912 NP_055727 Q8NE35 CPEB3_HUMAN cytoplasmic polyadenylation element binding 359 nucleotide binding|RNA binding 0 Colorectal(252;0.0869) TTCATGATCAGTCCTTATCAT 0.403 NaN 0 0 0 3.59834e-05 0 6 19 RAG2 5897 broad.mit.edu 37 11 36615460 36615460 + Missense_Mutation SNP C C G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr11:36615460C>G uc001mwv.3 - 2 447 c.259G>C c.(259-261)GAA>CAA p.E87Q C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank NM_000536 NP_000527 P55895 RAG2_HUMAN recombination activating gene 2 87 chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding skin(3)|ovary(1)|pancreas(1) 5 all_lung(20;0.226) all_hematologic(20;0.00756) TGATGCTTTTCAGACTCCAAG 0.418 NaN Familial_Hemophagocytic_Lymphohistiocytosis 0 0 0 0.000175454 0 20 366 EXT2 2132 broad.mit.edu 37 11 44135765 44135765 + Silent SNP G G C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr11:44135765G>C uc001mxz.2 + 4 991 c.657G>C c.(655-657)ACG>ACC p.T219T EXT2_uc010rfo.1_Silent_p.T247T|EXT2_uc001mxy.2_Silent_p.T232T|EXT2_uc009ykt.2_Silent_p.T219T|EXT2_uc001mya.2_Silent_p.T252T NM_207122 NP_997005 Q93063 EXT2_HUMAN exostosin 2 isoform 2 219 Lumenal (Potential). glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity lung(2)|breast(2)|skin(1) 5 GCTTTTCTACGTGGACTTACC 0.473 NaN Mis|N|F|S exostoses|osteosarcoma Hereditary_Multiple_Exostoses 0 0 0 8.12818e-05 0 7 94 OR4A47 403253 broad.mit.edu 37 11 48511224 48511224 + Missense_Mutation SNP A A G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr11:48511224A>G uc010rhx.1 + 1 880 c.880A>G c.(880-882)AGT>GGT p.S294G NM_001005512 NP_001005512 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, 294 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TGAGATGACAAGTGCTATGAA 0.418 NaN 0 0 0 6.4e-05 0 3 56 OR8J1 219477 broad.mit.edu 37 11 56128191 56128191 + Missense_Mutation SNP A A G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr11:56128191A>G uc010rjh.1 + 1 469 c.469A>G c.(469-471)ATT>GTT p.I157V NM_001005205 NP_001005205 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, 157 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) TTCTACAGCTATTGTGGTTTC 0.423 NaN 0 0 0 0.00024832 0 4 36 STX3 6809 broad.mit.edu 37 11 59554605 59554605 + Missense_Mutation SNP G G C rs140824363 TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr11:59554605G>C uc001nog.2 + 3 400 c.210G>C c.(208-210)GAG>GAC p.E70D STX3_uc010rkx.1_Missense_Mutation_p.E70D|STX3_uc010rky.1_Intron|STX3_uc009ymt.1_5'UTR NM_004177 NP_004168 Q13277 STX3_HUMAN syntaxin 3 70 Cytoplasmic (Potential).|Potential. cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule arachidonic acid binding|SNAP receptor activity ovary(2) 2 CGATTCCAGAGCCAAGTGAGT 0.448 NaN 0 0 0 8.12818e-05 0 6 43 LTBP3 4054 broad.mit.edu 37 11 65308027 65308027 + Silent SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr11:65308027G>A uc001oej.2 - 22 3305 c.3036C>T c.(3034-3036)AAC>AAT p.N1012N LTBP3_uc001oef.2_Silent_p.N15N|LTBP3_uc001oeg.2_Silent_p.N15N|LTBP3_uc001oeh.2_Silent_p.N442N|LTBP3_uc010roi.1_Silent_p.N895N|LTBP3_uc001oei.2_Silent_p.N1012N|LTBP3_uc010roj.1_Silent_p.N713N|LTBP3_uc010rok.1_Silent_p.N923N NM_001130144 NP_001123616 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding 1012 EGF-like 10; calcium-binding (Potential). extracellular region calcium ion binding|growth factor binding central_nervous_system(2)|lung(1) 3 CAGGCTGCGTGTTCACGCACT 0.642 NaN OREG0021080 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.000295444 0 22 131 ARHGEF17 9828 broad.mit.edu 37 11 73073578 73073578 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr11:73073578C>T uc001otu.2 + 14 4816 c.4795C>T c.(4795-4797)CTC>TTC p.L1599F NM_014786 NP_055601 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1599 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity 0 AGCCGCGACGCTCGCGGAGCC 0.731 NaN 0 0 0 8.12818e-05 0 5 32 HEPHL1 341208 broad.mit.edu 37 11 93796804 93796804 + Silent SNP G G C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr11:93796804G>C uc001pep.2 + 3 703 c.546G>C c.(544-546)CTG>CTC p.L182L NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 precursor 182 Plastocyanin-like 1.|Extracellular (Potential). copper ion transport integral to membrane copper ion binding|oxidoreductase activity ovary(3) 3 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) CCAACTGCCTGACCTGGGTGT 0.532 NaN 0 0 0 0.000602214 0 5 47 SESN3 143686 broad.mit.edu 37 11 94911061 94911061 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr11:94911061C>T uc001pfk.1 - 8 1291 c.1069G>A c.(1069-1071)GAA>AAA p.E357K SESN3_uc010rug.1_Missense_Mutation_p.E218K NM_144665 NP_653266 P58005 SESN3_HUMAN sestrin 3 357 cell cycle arrest nucleus 0 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) BRCA - Breast invasive adenocarcinoma(274;0.234) CCATGATTTTCCCAGGTATAG 0.313 NaN 0 0 0 0.000602214 0 5 15 DSCAML1 57453 broad.mit.edu 37 11 117667803 117667803 + Missense_Mutation SNP G G C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr11:117667803G>C uc001prh.1 - 1 174 c.172C>G c.(172-174)CTT>GTT p.L58V DSCAML1_uc001pri.1_Intron NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 Error:Variant_position_missing_in_Q8TD84_after_alignment axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) ATGCCATAAAGAGGCCCTATT 0.542 NaN 0 0 0 6.4e-05 0 3 50 NCAPD2 9918 broad.mit.edu 37 12 6638150 6638150 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr12:6638150C>T uc001qoo.2 + 27 3563 c.3517C>T c.(3517-3519)CGC>TGC p.R1173C NCAPD2_uc010sfd.1_Missense_Mutation_p.R1128C NM_014865 NP_055680 Q15021 CND1_HUMAN non-SMC condensin I complex, subunit D2 1173 cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding ovary(2)|lung(1)|breast(1)|kidney(1) 5 TATCATCAGCCGCCTGTCAGA 0.517 NaN 0 0 0 0.000566183 0 15 81 A2ML1 144568 broad.mit.edu 37 12 9020633 9020633 + Nonsense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr12:9020633C>T uc001quz.3 + 30 4011 c.3913C>T c.(3913-3915)CAG>TAG p.Q1305* A2ML1_uc001qva.1_Nonsense_Mutation_p.Q885*|A2ML1_uc010sgm.1_Nonsense_Mutation_p.Q805*|A2ML1_uc001qvb.1_RNA NM_144670 NP_653271 A8K2U0 A2ML1_HUMAN alpha-2-macroglobulin-like 1 precursor 1149 extracellular space endopeptidase inhibitor activity ovary(2)|skin(1) 3 GGCCTCAGGCCAGGGCTGTGT 0.507 NaN 0 0 0 0.000274275 0 8 73 ITPR2 3709 broad.mit.edu 37 12 26818878 26818878 + Nonsense_Mutation SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr12:26818878G>A uc001rhg.2 - 14 1933 c.1516C>T c.(1516-1518)CAA>TAA p.Q506* NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 506 Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) ATCAATTTTTGACGCTCTCGG 0.348 NaN 0 0 0 0.000442599 0 9 67 UHRF1BP1L 23074 broad.mit.edu 37 12 100452896 100452896 + Missense_Mutation SNP T T A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr12:100452896T>A uc001tgq.2 - 14 2388 c.2159A>T c.(2158-2160)GAC>GTC p.D720V UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.D370V NM_015054 NP_055869 A0JNW5 UH1BL_HUMAN UHRF1 (ICBP90) binding protein 1-like isoform a 720 ovary(2) 2 AGGGAATGAGTCTACAAAACT 0.398 NaN 0 0 0 8.12818e-05 0 7 65 TBX5 6910 broad.mit.edu 37 12 114793599 114793599 + Missense_Mutation SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr12:114793599G>A uc001tvo.2 - 9 1790 c.1295C>T c.(1294-1296)TCG>TTG p.S432L TBX5_uc001tvp.2_Missense_Mutation_p.S432L|TBX5_uc001tvq.2_Missense_Mutation_p.S382L NM_181486 NP_852259 Q99593 TBX5_HUMAN T-box 5 isoform 1 432 MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG NVPSTRPP (in Ref. 1; CAA70592). cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(6)|pancreas(1)|skin(1) 8 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) CAGGGGCCCCGAGGTGAAGTG 0.647 NaN 0 0 0 3.59834e-05 0 5 31 GLT1D1 144423 broad.mit.edu 37 12 129432001 129432001 + Missense_Mutation SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr12:129432001G>A uc010tbh.1 + 11 802 c.793G>A c.(793-795)GAG>AAG p.E265K GLT1D1_uc001uhx.1_Missense_Mutation_p.E180K|GLT1D1_uc001uhy.1_RNA NM_144669 NP_653270 Q96MS3 GL1D1_HUMAN glycosyltransferase 1 domain containing 1 260 biosynthetic process extracellular region transferase activity, transferring glycosyl groups 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019) TGCAATTTTGGAGGTAATTAT 0.458 NaN 0 0 0 0.000151284 0 10 65 EP400 57634 broad.mit.edu 37 12 132446281 132446281 + Missense_Mutation SNP T T C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr12:132446281T>C uc001ujn.2 + 1 1152 c.1117T>C c.(1117-1119)TAC>CAC p.Y373H EP400_uc001ujl.2_Missense_Mutation_p.Y373H|EP400_uc001ujm.2_Missense_Mutation_p.Y373H|EP400_uc001ujj.1_Missense_Mutation_p.Y373H|EP400_uc001ujk.2_Missense_Mutation_p.Y373H NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 373 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) GGACTATCATTACCAGGAGAT 0.473 NaN 0 0 0 0.000157383 0 8 66 RASL11A 387496 broad.mit.edu 37 13 27845086 27845086 + Missense_Mutation SNP G G C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr13:27845086G>C uc001urd.1 + 1 623 c.5G>C c.(4-6)CGG>CCG p.R2P NM_206827 NP_996563 Q6T310 RSLBA_HUMAN RAS-like, family 11, member A 2 positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent membrane|nucleolus GTP binding|GTPase activity breast(1) 1 Lung SC(185;0.0161) Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105) all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164) CGCTCCATGCGGCCGCTCAGC 0.706 NaN 0 0 0 6.4e-05 0 2 1 CYSLTR2 57105 broad.mit.edu 37 13 49281341 49281341 + Missense_Mutation SNP A A G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr13:49281341A>G uc010acx.1 + 6 1071 c.388A>G c.(388-390)ACC>GCC p.T130A CYSLTR2_uc010acy.1_Missense_Mutation_p.T130A|CYSLTR2_uc010acz.1_Missense_Mutation_p.T130A|CYSLTR2_uc010ada.1_Missense_Mutation_p.T130A|CYSLTR2_uc010adb.1_Missense_Mutation_p.T130A|CYSLTR2_uc010adc.1_Missense_Mutation_p.T130A|CYSLTR2_uc010add.1_Missense_Mutation_p.T130A|CYSLTR2_uc010acw.1_Missense_Mutation_p.T130A|CYSLTR2_uc001vck.2_Missense_Mutation_p.T130A NM_020377 NP_065110 Q9NS75 CLTR2_HUMAN cysteinyl leukotriene receptor 2 130 Helical; Name=3; (Potential). immune response integral to membrane|plasma membrane lung(2) 2 all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787) GBM - Glioblastoma multiforme(99;1.19e-09) Nedocromil(DB00716) TTATTTCCTGACCGTGCTGAG 0.468 NaN 0 0 0 6.4e-05 0 3 79 KLHL1 57626 broad.mit.edu 37 13 70681399 70681399 + Silent SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr13:70681399G>A uc001vip.2 - 1 1227 c.433C>T c.(433-435)CTG>TTG p.L145L KLHL1_uc010thm.1_Silent_p.L145L|ATXN8OS_uc010aej.1_RNA NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 145 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) AGCTCTTGCAGAACCAGCCCT 0.557 NaN 0 0 0 0.000586117 0 23 122 F10 2159 broad.mit.edu 37 13 113795343 113795343 + Missense_Mutation SNP G G C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr13:113795343G>C uc001vsx.2 + 5 538 c.481G>C c.(481-483)GGC>CGC p.G161R F10_uc010agq.1_RNA|F10_uc001vsy.2_Missense_Mutation_p.G161R|F10_uc001vsz.2_Missense_Mutation_p.G161R NM_000504 NP_000495 P00742 FA10_HUMAN coagulation factor X preproprotein 161 EGF-like 2. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity pancreas(1) 1 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0805)|Epithelial(84;0.231) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031) GGCTGACAACGGCAAGGCCTG 0.682 NaN 0 0 0 0.000602214 0 4 46 TEP1 7011 broad.mit.edu 37 14 20876196 20876196 + Missense_Mutation SNP G G C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr14:20876196G>C uc001vxe.2 - 2 443 c.403C>G c.(403-405)CAC>GAC p.H135D TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.H135D NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 135 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) TGCGTCATGTGAGATATCTGT 0.527 NaN 0 0 0 0.000219431 0 15 168 THTPA 79178 broad.mit.edu 37 14 24028017 24028017 + Missense_Mutation SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr14:24028017G>A uc001wkh.3 + 3 1031 c.661G>A c.(661-663)GAG>AAG p.E221K THTPA_uc001wkb.3_RNA|THTPA_uc001wkg.3_Missense_Mutation_p.E221K|THTPA_uc010akr.2_RNA|THTPA_uc001wki.3_3'UTR|uc001wko.1_5'Flank NM_001126339 NP_001119811 Q9BU02 THTPA_HUMAN thiamine triphosphatase 221 dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process cytosol|nucleolus|soluble fraction thiamin-triphosphatase activity 0 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00643) Thiamine(DB00152) GAGGCCACAGGAGACTGAAGA 0.572 NaN OREG0022604 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.000602214 0 5 46 G2E3 55632 broad.mit.edu 37 14 31077178 31077178 + Missense_Mutation SNP C C G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr14:31077178C>G uc001wqk.2 + 12 1557 c.1403C>G c.(1402-1404)TCT>TGT p.S468C G2E3_uc010tpe.1_3'UTR|G2E3_uc010tpf.1_Missense_Mutation_p.S422C NM_017769 NP_060239 Q7L622 G2E3_HUMAN G2/M-phase specific E3 ubiquitin ligase 468 HECT. apoptosis|multicellular organismal development|protein modification process Golgi apparatus|nucleolus acid-amino acid ligase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 GGTTTCTTTTCTAAAACCTTG 0.378 NaN 0 0 0 0.000157383 0 8 39 C14orf181 400223 broad.mit.edu 37 14 69262546 69262546 + Missense_Mutation SNP G G C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr14:69262546G>C uc001xkj.1 - 1 645 c.466C>G c.(466-468)CTC>GTC p.L156V ZFP36L1_uc001xkh.1_5'Flank|ZFP36L1_uc001xki.1_5'Flank NM_207442 NP_997325 hypothetical protein LOC400223 0 all cancers(60;0.002)|BRCA - Breast invasive adenocarcinoma(234;0.00204)|OV - Ovarian serous cystadenocarcinoma(108;0.0399) AGGGAGCCGAGAGGAGGGAGC 0.602 NaN 0 0 0 6.40141e-05 0 12 107 PDIA3 2923 broad.mit.edu 37 15 44061801 44061801 + Missense_Mutation SNP A A G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr15:44061801A>G uc001zsu.2 + 10 1371 c.1223A>G c.(1222-1224)CAC>CGC p.H408R PDIA3_uc010bdp.2_Missense_Mutation_p.H388R|PDIA3_uc010ued.1_Missense_Mutation_p.H182R NM_005313 NP_005304 P30101 PDIA3_HUMAN protein disulfide-isomerase A3 precursor 408 Thioredoxin 2. Contributes to redox potential value (By similarity). cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction endoplasmic reticulum lumen|melanosome cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity ovary(1)|skin(1) 2 all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.48e-07) TGGTGTGGTCACTGTAAGAAC 0.393 NaN 0 0 0 0.00010058 0 11 73 MYEF2 50804 broad.mit.edu 37 15 48443319 48443319 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr15:48443319C>T uc001zwi.3 - 14 1480 c.1356G>A c.(1354-1356)ATG>ATA p.M452I MYEF2_uc001zwg.3_5'Flank|MYEF2_uc001zwh.3_Intron|MYEF2_uc001zwj.3_Intron NM_016132 NP_057216 Q9P2K5 MYEF2_HUMAN myelin expression factor 2 452 Gly-rich. transcription, DNA-dependent Golgi apparatus|nucleus DNA binding|nucleotide binding|RNA binding lung(2)|ovary(1) 3 all_lung(180;0.00217) all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07) CTACTGGACCCATGTTAGAAG 0.323 NaN 0 0 0 0.000602214 0 5 26 UNC13C 440279 broad.mit.edu 37 15 54586192 54586192 + Silent SNP T T C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr15:54586192T>C uc002ack.2 + 9 3918 c.3918T>C c.(3916-3918)GAT>GAC p.D1306D UNC13C_uc002acl.2_Silent_p.D136D NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 1306 C2 1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AGGAGTCAGATGATTTTCTGG 0.368 NaN 0 0 0 0.000175454 0 19 80 HAGH 3029 broad.mit.edu 37 16 1859330 1859330 + Missense_Mutation SNP C C A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr16:1859330C>A uc002cna.2 - 9 1288 c.881G>T c.(880-882)CGG>CTG p.R294L HAGH_uc002cmz.2_Missense_Mutation_p.R246L|HAGH_uc010uvp.1_3'UTR|HAGH_uc002cnb.1_3'UTR NM_005326 NP_005317 Q16775 GLO2_HUMAN hydroxyacylglutathione hydrolase isoform 1 294 glutathione biosynthetic process cytoplasm|mitochondrial matrix|mitochondrial matrix hydroxyacylglutathione hydrolase activity|zinc ion binding ovary(1) 1 Hepatocellular(780;0.00335) Glutathione(DB00143) GCGCACGGCCCGCATGGTGGT 0.662 NaN 1 0 0.000442599 0.000442599 0.00505904 9 175 TMC7 79905 broad.mit.edu 37 16 19058553 19058553 + Silent SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr16:19058553C>T uc002dfq.2 + 12 1852 c.1722C>T c.(1720-1722)ATC>ATT p.I574I TMC7_uc002dfp.2_Silent_p.I574I|TMC7_uc010vap.1_Silent_p.I464I NM_024847 NP_079123 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 isoform a 574 Helical; (Potential). integral to membrane skin(2)|ovary(1) 3 AATTCATTATCATCTTCTATG 0.368 NaN 0 0 0 0.000319135 0 39 314 EEF2K 29904 broad.mit.edu 37 16 22269882 22269882 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr16:22269882C>T uc002dki.2 + 10 1582 c.1097C>T c.(1096-1098)TCT>TTT p.S366F EEF2K_uc002dkh.2_RNA NM_013302 NP_037434 O00418 EF2K_HUMAN elongation factor-2 kinase 366 insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding large_intestine(1) 1 GBM - Glioblastoma multiforme(48;0.0223) AGGACCCTCTCTGGGAGCCGG 0.547 NaN 0 0 0 0.000279167 0 30 68 ALDOA 226 broad.mit.edu 37 16 30080666 30080666 + Missense_Mutation SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr16:30080666G>A uc002dvw.2 + 9 1708 c.580G>A c.(580-582)GAT>AAT p.D194N uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|ALDOA_uc002dvx.2_Missense_Mutation_p.D194N|ALDOA_uc002dvy.2_Missense_Mutation_p.D194N|ALDOA_uc002dvz.2_Missense_Mutation_p.D194N|ALDOA_uc002dwa.3_Missense_Mutation_p.D194N|ALDOA_uc002dwb.1_Missense_Mutation_p.D194N|ALDOA_uc002dwc.2_Missense_Mutation_p.D194N|ALDOA_uc010veg.1_Missense_Mutation_p.D248N|ALDOA_uc002dwd.2_Missense_Mutation_p.D198N NM_184043 NP_908932 P04075 ALDOA_HUMAN fructose-bisphosphate aldolase A 194 actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding lung(1) 1 GATCCTCCCTGATGGGGACCA 0.602 NaN OREG0023729 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.000219431 0 12 88 NETO2 81831 broad.mit.edu 37 16 47162452 47162452 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr16:47162452C>T uc002eer.1 - 4 650 c.265G>A c.(265-267)GAT>AAT p.D89N NETO2_uc010vgf.1_5'UTR|NETO2_uc002ees.1_Missense_Mutation_p.D89N NM_018092 NP_060562 Q8NC67 NETO2_HUMAN neuropilin- and tolloid-like protein 2 89 Extracellular (Potential).|CUB 1. integral to membrane receptor activity 0 all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174) TAATGTTCATCAAAGGTCAAC 0.358 NaN HNSCC(25;0.065) 0 0 0 0.000566183 0 14 125 FHOD1 29109 broad.mit.edu 37 16 67263612 67263612 + Missense_Mutation SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr16:67263612G>A uc002esl.2 - 22 3534 c.3422C>T c.(3421-3423)ACG>ATG p.T1141M LRRC29_uc002ese.2_5'Flank|LRRC29_uc002esf.2_5'Flank|LRRC29_uc002esg.2_5'Flank|LRRC29_uc010vjg.1_5'Flank|FHOD1_uc002esk.2_Missense_Mutation_p.T200M|FHOD1_uc010ced.2_Missense_Mutation_p.T948M NM_013241 NP_037373 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 1141 actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(2)|ovary(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) ACTCTTCAACGTCCTTCTCAC 0.582 NaN 0 0 0 0.000958276 0 18 108 MBTPS1 8720 broad.mit.edu 37 16 84096944 84096944 + Missense_Mutation SNP G G C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr16:84096944G>C uc002fhi.2 - 19 3040 c.2538C>G c.(2536-2538)GAC>GAG p.D846E MBTPS1_uc002fhh.2_Missense_Mutation_p.D350E NM_003791 NP_003782 Q14703 MBTP1_HUMAN membrane-bound transcription factor site-1 846 Lumenal (Potential). cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity ovary(2) 2 AGCAATTGGAGTCCCCATACA 0.478 NaN OREG0023981 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 3.59834e-05 0 5 140 BANP 54971 broad.mit.edu 37 16 88039762 88039762 + Missense_Mutation SNP C C G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr16:88039762C>G uc002fkr.2 + 6 743 c.519C>G c.(517-519)CAC>CAG p.H173Q BANP_uc002fkp.2_Missense_Mutation_p.H143Q|BANP_uc002fkq.2_Missense_Mutation_p.H143Q|BANP_uc010vow.1_Missense_Mutation_p.H181Q|BANP_uc002fks.3_Missense_Mutation_p.H142Q|BANP_uc002fko.1_Missense_Mutation_p.H79Q|BANP_uc010vov.1_Missense_Mutation_p.H148Q NM_079837 NP_524576 Q8N9N5 BANP_HUMAN BTG3 associated nuclear protein isoform b 174 Interaction with CUX1 and HDAC1 (By similarity). cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 BRCA - Breast invasive adenocarcinoma(80;0.00551) ACAGCCACCACGAGGACGGGG 0.627 NaN 0 0 0 0.00074312 0 14 123 TP53 7157 broad.mit.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A rs121912651 TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr17:7577539G>A uc002gim.2 - 7 936 c.742C>T c.(742-744)CGG>TGG p.R248W TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.2_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248Q(516)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ATGGGCCTCCGGTTCATGCCG 0.577 R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO680N_OESOPHAGUS)|R248W(SW837_LARGE_INTESTINE)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(RD_SOFT_TISSUE)|R248W(VCAP_PROSTATE)|R248W(JIMT1_BREAST)|R248W(GCT_SOFT_TISSUE)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(786O_KIDNEY)|R248W(COLO320_LARGE_INTESTINE)|R248W(LXF289_LUNG)|R248W(LUDLU1_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(HCC2157_BREAST) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 0 0 0 0.000878237 0 24 79 KDM6B 23135 broad.mit.edu 37 17 7749991 7749991 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr17:7749991C>T uc002giw.1 + 8 1020 c.644C>T c.(643-645)TCA>TTA p.S215L KDM6B_uc002gix.2_5'Flank NM_001080424 NP_001073893 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 215 Pro-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|pancreas(1) 2 GCAGCACTCTCAGGCCCCTCA 0.637 NaN 0 0 0 0.000308642 0 15 86 MYH13 8735 broad.mit.edu 37 17 10248880 10248880 + Silent SNP C C A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr17:10248880C>A uc002gmk.1 - 14 1407 c.1317G>T c.(1315-1317)CTG>CTT p.L439L MYH13_uc010vvf.1_Silent_p.L114L NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 439 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 TGACCATCCACAGGAACATCT 0.517 NaN 1 0 1.12685e-05 0.000274275 0.000130383 6 137 C17orf48 56985 broad.mit.edu 37 17 10614321 10614321 + Missense_Mutation SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr17:10614321G>A uc002gmt.2 + 4 964 c.889G>A c.(889-891)GAA>AAA p.E297K C17orf48_uc002gmu.2_RNA|C17orf48_uc002gmv.2_RNA NM_020233 NP_064618 Q3LIE5 ADPRM_HUMAN ADP-ribose/CDP-alcohol pyrophosphatase 297 ADP-ribose diphosphatase activity|CDP-glycerol diphosphatase activity|metal ion binding 0 CGTCAACCTAGAAGGAGTTAT 0.463 NaN 0 0 0 0.000274275 0 8 51 NCOR1 9611 broad.mit.edu 37 17 15989705 15989705 + Missense_Mutation SNP C C G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 C G C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr17:15989705C>G uc002gpo.2 - 23 3308 c.3068G>C c.(3067-3069)CGG>CCG p.R1023P NCOR1_uc002gpn.2_Missense_Mutation_p.R1039P|NCOR1_uc002gpp.1_Missense_Mutation_p.R930P|NCOR1_uc002gpq.1_Missense_Mutation_p.R115P NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 1023 Interaction with ETO. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) TGTCGGAAGCCGAACGCCTTC 0.458 NaN 0 0 0 8.12818e-05 0 7 37 THRA 7067 broad.mit.edu 37 17 38244572 38244572 + Silent SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr17:38244572C>T uc002htw.2 + 8 1284 c.801C>T c.(799-801)TAC>TAT p.Y267Y THRA_uc010cwp.1_Silent_p.Y267Y|THRA_uc002htv.2_Silent_p.Y267Y|THRA_uc002htx.2_Silent_p.Y267Y NM_003250 NP_003241 P10827 THA_HUMAN thyroid hormone receptor, alpha isoform 2 267 Ligand-binding. negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter cytosol|nucleoplasm protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding 0 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Levothyroxine(DB00451)|Liothyronine(DB00279) CTGTCCGCTACGACCCTGAGA 0.637 NaN 0 0 0 0.000219431 0 12 87 NBR1 4077 broad.mit.edu 37 17 41331419 41331419 + Missense_Mutation SNP C C G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr17:41331419C>G uc010czd.2 + 4 314 c.174C>G c.(172-174)ATC>ATG p.I58M NBR1_uc010diz.2_Missense_Mutation_p.I58M|NBR1_uc010whu.1_Missense_Mutation_p.I58M|NBR1_uc010whv.1_Missense_Mutation_p.I58M|NBR1_uc010whw.1_Missense_Mutation_p.I37M NM_031862 NP_114068 Q14596 NBR1_HUMAN neighbor of BRCA1 gene 1 58 OPR. macroautophagy|protein oligomerization autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere ubiquitin binding|zinc ion binding skin(1) 1 Breast(137;0.00086) BRCA - Breast invasive adenocarcinoma(366;0.0934) AGGTATCCATCAACAGTCAAG 0.378 NaN 0 0 0 0.000602214 0 4 47 TEX2 55852 broad.mit.edu 37 17 62254697 62254697 + Silent SNP G G T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr17:62254697G>T uc002jec.2 - 6 2732 c.2559C>A c.(2557-2559)CTC>CTA p.L853L TEX2_uc002jed.2_Silent_p.L860L|TEX2_uc002jee.2_Silent_p.L853L NM_018469 NP_060939 Q8IWB9 TEX2_HUMAN testis expressed sequence 2 853 signal transduction|sphingolipid metabolic process integral to membrane ovary(1) 1 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) TTATTTTGCTGAGTTTCATTT 0.378 NaN 1 0 2.12542e-12 0.000147802 2.55321e-11 29 168 SDK2 54549 broad.mit.edu 37 17 71394562 71394562 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr17:71394562C>T uc010dfm.2 - 23 3100 c.3100G>A c.(3100-3102)GTG>ATG p.V1034M SDK2_uc002jjt.3_Missense_Mutation_p.V193M|SDK2_uc010dfn.2_Missense_Mutation_p.V713M NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN sidekick 2 1034 Fibronectin type-III 5.|Extracellular (Potential). cell adhesion integral to membrane ovary(2) 2 TCCCCAACCACGCCTACCTGG 0.627 NaN 0 0 0 0.000442599 0 10 110 RNF213 57674 broad.mit.edu 37 17 78319411 78319411 + Missense_Mutation SNP A A G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr17:78319411A>G uc002jyh.1 + 4 1718 c.1495A>G c.(1495-1497)AAA>GAA p.K499E NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) TGGCTGTGGGAAAACCAGGCT 0.502 NaN 0 0 0 0.000586117 0 22 155 GALR1 2587 broad.mit.edu 37 18 74963033 74963033 + Missense_Mutation SNP T T C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr18:74963033T>C uc002lms.3 + 1 1026 c.529T>C c.(529-531)TTC>CTC p.F177L NM_001480 NP_001471 P47211 GALR1_HUMAN galanin receptor 1 177 Extracellular (Potential). digestion|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity lung(1) 1 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104) CCAGGGCCTCTTCCACCCGCG 0.677 NaN 0 0 0 0.000132079 0 18 54 CD79A 973 broad.mit.edu 37 19 42383361 42383361 + Splice_Site SNP T T G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr19:42383361T>G uc002orv.2 + 2 564 c.379_splice c.e2+2 p.Q127_splice CD79A_uc002oru.2_Intron NM_001783 NP_001774 P11912 CD79A_HUMAN CD79A antigen isoform 1 precursor B cell differentiation|B cell proliferation|B cell receptor signaling pathway B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body transmembrane receptor activity ovary(2)|pancreas(1) 3 GCGTGCGCCGTGAGTGGCCCA 0.592 NaN O|S DLBCL 0 0 0 0.00010058 0 10 15 PEG3 5178 broad.mit.edu 37 19 57328456 57328456 + Missense_Mutation SNP A A G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr19:57328456A>G uc002qnu.2 - 7 1705 c.1354T>C c.(1354-1356)TAT>CAT p.Y452H ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.Y423H|PEG3_uc002qnv.2_Missense_Mutation_p.Y452H|PEG3_uc002qnw.2_Missense_Mutation_p.Y328H|PEG3_uc002qnx.2_Missense_Mutation_p.Y326H|PEG3_uc010etr.2_Missense_Mutation_p.Y452H NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 452 C2H2-type 1. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TCACATACATATGGCATTGCC 0.488 NaN 0 0 0 0.000157383 0 6 87 ALK 238 broad.mit.edu 37 2 29917721 29917721 + Missense_Mutation SNP G G C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr2:29917721G>C uc002rmy.2 - 3 1854 c.947C>G c.(946-948)CCC>CGC p.P316R NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor 316 MAM 1.|Extracellular (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1) 1218 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) CTTACCTCTGGGCATCTCCTT 0.587 NaN T|Mis|A NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4 ALCL|NSCLC|Neuroblastoma neuroblastoma Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 0 0 0 0.000227799 0 25 80 MOGS 7841 broad.mit.edu 37 2 74688895 74688895 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr2:74688895C>T uc010ffj.2 - 4 2184 c.2021G>A c.(2020-2022)CGG>CAG p.R674Q MOGS_uc010ffh.2_Missense_Mutation_p.R399Q|MOGS_uc010yrt.1_Missense_Mutation_p.R555Q|MOGS_uc010ffi.2_Missense_Mutation_p.R568Q NM_006302 NP_006293 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase isoform 1 674 Lumenal (Potential). oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity 0 ACCCACCACCCGAACGAGCCC 0.582 NaN 0 0 0 0.000442599 0 9 99 SEMA4C 54910 broad.mit.edu 37 2 97530101 97530101 + Silent SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr2:97530101C>T uc002sxh.3 - 10 1141 c.981G>A c.(979-981)TCG>TCA p.S327S SEMA4C_uc002sxf.3_5'Flank|SEMA4C_uc002sxe.2_5'Flank|SEMA4C_uc002sxg.3_Silent_p.S380S NM_017789 NP_060259 Q9C0C4 SEM4C_HUMAN semaphorin 4C precursor 327 Extracellular (Potential).|Dominant negative effect on myogenic differentiation (By similarity).|Sema. muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity skin(2) 2 CACAGATGGCCGACAGGTACA 0.582 NaN 0 0 0 0.00074312 0 16 162 DDX18 8886 broad.mit.edu 37 2 118575041 118575041 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr2:118575041C>T uc002tlh.1 + 2 206 c.107C>T c.(106-108)TCG>TTG p.S36L NM_006773 NP_006764 Q9NVP1 DDX18_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 36 ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|ovary(1)|lung(1) 4 CTGACCCTATCGGAAACTCAA 0.358 NaN 0 0 0 0.000157383 0 7 87 COL5A2 1290 broad.mit.edu 37 2 189904075 189904075 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr2:189904075C>T uc002uqk.2 - 51 4123 c.3848G>A c.(3847-3849)CGC>CAC p.R1283H COL5A2_uc010frx.2_Missense_Mutation_p.R859H NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 1283 Fibrillar collagen NC1. axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) ATCGGGGCTGCGCATGGTTTC 0.522 NaN 0 0 0 0.000157383 0 7 53 DIS3L2 129563 broad.mit.edu 37 2 233198629 233198629 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr2:233198629C>T uc010fxz.2 + 17 2366 c.2090C>T c.(2089-2091)ACA>ATA p.T697I DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA|DIS3L2_uc002vsp.1_5'Flank NM_152383 NP_689596 Q8IYB7 DI3L2_HUMAN DIS3 mitotic control homolog (S. 697 exonuclease activity|ribonuclease activity|RNA binding ovary(1)|breast(1)|central_nervous_system(1) 3 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) CCCCTGTACACACACTTCACC 0.662 NaN 0 0 0 0.00074312 0 18 92 C20orf26 26074 broad.mit.edu 37 20 20279020 20279020 + Missense_Mutation SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr20:20279020G>A uc002wru.2 + 25 3488 c.3412G>A c.(3412-3414)GAT>AAT p.D1138N C20orf26_uc002wrw.2_RNA NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 1138 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) CCTGATCACAGATCTCTATAG 0.468 NaN 0 0 0 0.000442599 0 8 57 ATP9A 10079 broad.mit.edu 37 20 50224073 50224073 + Silent SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr20:50224073G>A uc002xwg.1 - 26 2796 c.2796C>T c.(2794-2796)ATC>ATT p.I932I ATP9A_uc010gih.1_Silent_p.I796I|ATP9A_uc002xwf.1_Silent_p.I104I NM_006045 NP_006036 O75110 ATP9A_HUMAN ATPase, class II, type 9A 932 Helical; (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(4) 4 TACCTTGATAGATGCTAATCA 0.488 NaN 0 0 0 0.000151284 0 12 39 PTK6 5753 broad.mit.edu 37 20 62168507 62168507 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr20:62168507C>T uc002yfg.2 - 1 201 c.161G>A c.(160-162)GGT>GAT p.G54D PTK6_uc011aay.1_Translation_Start_Site|PTK6_uc011aba.1_Missense_Mutation_p.G54D NM_005975 NP_005966 Q13882 PTK6_HUMAN PTK6 protein tyrosine kinase 6 54 SH3. cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity stomach(1)|kidney(1) 2 all_cancers(38;2.51e-11) Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06) CACGGCCCCACCCGCCTCGTC 0.692 NaN 0 0 0 0.000308642 0 14 18 MX1 4599 broad.mit.edu 37 21 42823170 42823170 + Silent SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr21:42823170G>A uc002yzh.2 + 17 2456 c.1509G>A c.(1507-1509)AAG>AAA p.K503K MX1_uc002yzi.2_Silent_p.K503K|MX1_uc010goq.2_Silent_p.K503K NM_001144925 NP_001138397 P20591 MX1_HUMAN myxovirus resistance protein 1 503 induction of apoptosis|response to virus|type I interferon-mediated signaling pathway cytosol GTP binding|GTPase activity|protein binding ovary(1) 1 Prostate(19;3.18e-07)|all_epithelial(19;0.0277) GAACCGCCAAGGTAAAACCAA 0.308 NaN 0 0 0 0.000781405 0 119 244 ITGB2 3689 broad.mit.edu 37 21 46306710 46306710 + Missense_Mutation SNP T T C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr21:46306710T>C uc002zgd.2 - 14 2232 c.2188A>G c.(2188-2190)AGC>GGC p.S730G ITGB2_uc002zge.2_Missense_Mutation_p.S730G|ITGB2_uc002zgf.3_Missense_Mutation_p.S730G|ITGB2_uc011afl.1_Missense_Mutation_p.S652G|ITGB2_uc010gpw.2_Missense_Mutation_p.S673G|ITGB2_uc002zgg.2_Missense_Mutation_p.S730G NM_001127491 NP_001120963 P05107 ITB2_HUMAN integrin, beta 2 precursor 730 Cytoplasmic (Potential). apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity ovary(4)|central_nervous_system(3)|breast(2) 9 Colorectal(79;0.0669) Simvastatin(DB00641) CGGAGGTCGCTCAGGTGGATC 0.627 NaN 0 0 0 6.4e-05 0 3 63 EIF4ENIF1 56478 broad.mit.edu 37 22 31839041 31839041 + Missense_Mutation SNP T T C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr22:31839041T>C uc003akz.1 - 16 2277 c.2113A>G c.(2113-2115)ATG>GTG p.M705V EIF4ENIF1_uc003akx.1_Missense_Mutation_p.M360V|EIF4ENIF1_uc003aky.1_Missense_Mutation_p.M385V|EIF4ENIF1_uc003ala.1_Missense_Mutation_p.M705V|EIF4ENIF1_uc003alb.1_Missense_Mutation_p.M531V|EIF4ENIF1_uc003akw.1_Missense_Mutation_p.M195V NM_019843 NP_062817 Q9NRA8 4ET_HUMAN eukaryotic translation initiation factor 4E 705 nucleus protein binding|protein transporter activity ovary(1) 1 CTCTCGTACATCTTACGAATC 0.458 NaN 0 0 0 0.000422831 0 16 49 TRANK1 9881 broad.mit.edu 37 3 36872485 36872485 + Silent SNP T T C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr3:36872485T>C uc003cgj.2 - 12 7109 c.6807A>G c.(6805-6807)GTA>GTG p.V2269V NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 2819 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 TGTGGATCCATACACTTTGCT 0.532 NaN 0 0 0 0.000781405 0 43 143 KLHDC8B 200942 broad.mit.edu 37 3 49213182 49213182 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr3:49213182C>T uc003cwh.2 + 6 1198 c.1013C>T c.(1012-1014)GCC>GTC p.A338V KLHDC8B_uc003cwi.1_3'UTR NM_173546 NP_775817 Q8IXV7 KLD8B_HUMAN kelch domain containing 8B 338 Kelch 8. cytoplasm 0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GGGGGTGTGGCCCAGGGCCCC 0.662 NaN 0 0 0 0.000673444 0 10 58 TRAT1 50852 broad.mit.edu 37 3 108565976 108565976 + Missense_Mutation SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr3:108565976G>A uc003dxi.1 + 4 358 c.214G>A c.(214-216)GAA>AAA p.E72K TRAT1_uc010hpx.1_Missense_Mutation_p.E35K NM_016388 NP_057472 Q6PIZ9 TRAT1_HUMAN T-cell receptor interacting molecule 72 Cytoplasmic (Potential). cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity skin(1) 1 TATGATTTCAGGTAAGTTTTC 0.274 NaN 0 0 0 0.000602214 0 5 30 ZDHHC23 254887 broad.mit.edu 37 3 113675335 113675335 + Missense_Mutation SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr3:113675335G>A uc003eau.2 + 4 1321 c.1022G>A c.(1021-1023)GGA>GAA p.G341E ZDHHC23_uc003eav.2_Missense_Mutation_p.G335E|ZDHHC23_uc003eaw.1_5'Flank NM_173570 NP_775841 Q8IYP9 ZDH23_HUMAN zinc finger, DHHC domain containing 23 341 integral to membrane acyltransferase activity|zinc ion binding ovary(2) 2 TATTGTCCTGGAGTTTATGCA 0.463 NaN 0 0 0 3.59834e-05 0 6 72 COL6A6 131873 broad.mit.edu 37 3 130311550 130311550 + Missense_Mutation SNP G G T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr3:130311550G>T uc010htl.2 + 14 4386 c.4355G>T c.(4354-4356)GGA>GTA p.G1452V COL6A6_uc003eni.3_5'UTR NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 1452 Triple-helical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 GGAAACAGAGGACTAAATGGA 0.313 NaN 1 0 4.34311e-12 0.00058488 5.18424e-11 28 124 PPP2R3A 5523 broad.mit.edu 37 3 135721343 135721343 + Missense_Mutation SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr3:135721343G>A uc003eqv.1 + 2 1568 c.1003G>A c.(1003-1005)GAA>AAA p.E335K PPP2R3A_uc011blz.1_Intron NM_002718 NP_002709 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', 335 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1) 7 CCCTAAATATGAAGATGTTGT 0.413 NaN 0 0 0 0.000442599 0 7 65 PIK3CB 5291 broad.mit.edu 37 3 138478132 138478132 + Nonsense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr3:138478132C>T uc011bmq.1 - 1 54 c.54G>A c.(52-54)TGG>TGA p.W18* NM_006219 NP_006210 P42338 PK3CB_HUMAN catalytic phosphatidylinositol 3-kinase beta 18 activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity breast(2)|ovary(1)|lung(1)|skin(1) 5 AATCCACCGCCCAGATGTCAA 0.463 NaN 0 0 0 0.000602214 0 5 46 SLC33A1 9197 broad.mit.edu 37 3 155571496 155571496 + Silent SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr3:155571496G>A uc003fan.3 - 1 672 c.291C>T c.(289-291)CTC>CTT p.L97L SLC33A1_uc003fao.1_Silent_p.L97L NM_004733 NP_004724 O00400 ACATN_HUMAN acetyl-coenzyme A transporter 97 Extracellular (Potential). cell death|transmembrane transport endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction acetyl-CoA transporter activity ovary(2)|large_intestine(1)|pancreas(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TTTGCAAAATGAGTGGGATGC 0.483 NaN 0 0 0 0.000157383 0 8 74 GFM1 85476 broad.mit.edu 37 3 158408110 158408110 + Missense_Mutation SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr3:158408110G>A uc003fce.2 + 16 2175 c.2068G>A c.(2068-2070)GAT>AAT p.D690N GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Missense_Mutation_p.D621N NM_024996 NP_079272 Q96RP9 EFGM_HUMAN G elongation factor, mitochondrial 1 precursor 690 mitochondrial translational elongation mitochondrion GTP binding|GTPase activity|translation elongation factor activity ovary(3)|central_nervous_system(1) 4 Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043) ACTGTATGCAGATGTAAGTAG 0.408 NaN 0 0 0 0.000442599 0 9 80 ACTL6A 86 broad.mit.edu 37 3 179301231 179301231 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr3:179301231C>T uc003fjw.2 + 12 1290 c.1117C>T c.(1117-1119)CCT>TCT p.P373S ACTL6A_uc003fjx.2_Missense_Mutation_p.P331S|ACTL6A_uc003fjy.2_Missense_Mutation_p.P331S NM_004301 NP_004292 O96019 ACL6A_HUMAN actin-like 6A isoform 1 373 chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex ATP binding|chromatin binding ovary(1) 1 all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169) TCAGAAAACTCCTCCAGTAAG 0.368 NaN 0 0 0 0.000442599 0 9 82 KIAA1530 57654 broad.mit.edu 37 4 1374711 1374711 + Missense_Mutation SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr4:1374711G>A uc003gde.3 + 12 2243 c.1796G>A c.(1795-1797)CGG>CAG p.R599Q KIAA1530_uc010ibv.2_Missense_Mutation_p.R150Q NM_020894 NP_065945 Q2YD98 K1530_HUMAN hypothetical protein LOC57654 599 0 OV - Ovarian serous cystadenocarcinoma(23;0.0138) GACGAAGGACGGCCGCTCGAC 0.677 NaN 0 0 0 0.00074312 0 13 54 FAM53A 152877 broad.mit.edu 37 4 1643302 1643302 + Silent SNP G G A rs151156399 TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr4:1643302G>A uc011bve.1 - 5 1113 c.915C>T c.(913-915)CTC>CTT p.L305L FAM53A_uc010ibw.2_Nonsense_Mutation_p.Q357* NM_001013622 NP_001013644 Q6NSI3 FA53A_HUMAN dorsal neural-tube nuclear protein 305 nucleus 0 all_epithelial(65;0.206)|Breast(71;0.212) OV - Ovarian serous cystadenocarcinoma(23;0.0145) CTTCGTAATTGAGGGAGCAAA 0.502 NaN 0 0 0 0.000781405 0 43 319 TACC3 10460 broad.mit.edu 37 4 1730206 1730206 + Missense_Mutation SNP G G C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr4:1730206G>C uc003gdo.2 + 4 1185 c.1077G>C c.(1075-1077)GAG>GAC p.E359D TACC3_uc010ibz.2_Missense_Mutation_p.E359D|TACC3_uc003gdp.2_Intron|TACC3_uc010ica.2_5'Flank NM_006342 NP_006333 Q9Y6A5 TACC3_HUMAN transforming, acidic coiled-coil containing 359 centrosome ovary(1)|central_nervous_system(1) 2 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) GACTGGGAGAGAGGTCCGGCC 0.597 NaN 0 0 0 3.59834e-05 0 5 73 HAUS3 79441 broad.mit.edu 37 4 2242103 2242103 + Missense_Mutation SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr4:2242103G>A uc003ges.1 - 2 801 c.571C>T c.(571-573)CCA>TCA p.P191S POLN_uc011bvi.1_Intron|HAUS3_uc011bvj.1_Missense_Mutation_p.P191S|HAUS3_uc003get.1_Missense_Mutation_p.P191S NM_024511 NP_078787 Q68CZ6 HAUS3_HUMAN HAUS augmin-like complex, subunit 3 191 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle large_intestine(2)|breast(2) 4 aataccagtggatttgtccct 0.035 NaN 0 0 0 0.000602214 0 5 27 SH3BP2 6452 broad.mit.edu 37 4 2831314 2831314 + Silent SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr4:2831314C>T uc003gfi.3 + 8 801 c.681C>T c.(679-681)ACC>ACT p.T227T SH3BP2_uc011bvp.1_Silent_p.T255T|SH3BP2_uc003gfj.3_Silent_p.T284T|SH3BP2_uc003gfk.3_Silent_p.T227T|SH3BP2_uc003gfl.3_Silent_p.T160T|SH3BP2_uc003gfm.3_Silent_p.T202T NM_001122681 NP_001116153 P78314 3BP2_HUMAN SH3-domain binding protein 2 isoform a 227 signal transduction SH3 domain binding|SH3/SH2 adaptor activity central_nervous_system(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.164) ACTCCTTTACCTCCAAGGGCC 0.677 NaN Cherubism 0 0 0 0.000151284 0 13 101 C1QTNF7 114905 broad.mit.edu 37 4 15444248 15444248 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr4:15444248C>T uc011bxb.1 + 3 922 c.695C>T c.(694-696)TCG>TTG p.S232L C1QTNF7_uc003gno.2_Missense_Mutation_p.S239L|C1QTNF7_uc003gnp.2_Missense_Mutation_p.S232L NM_001135171 NP_001128643 Q9BXJ2 C1QT7_HUMAN C1q and tumor necrosis factor related protein 7 232 C1q. collagen 0 GATGTGGCTTCGGGGTCCACA 0.502 NaN 0 0 0 0.000781405 0 60 96 GRID2 2895 broad.mit.edu 37 4 94006340 94006340 + Missense_Mutation SNP C C G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr4:94006340C>G uc011cdt.1 + 3 697 c.439C>G c.(439-441)CGC>GGC p.R147G GRID2_uc010ikx.2_Missense_Mutation_p.R147G|GRID2_uc011cdu.1_Intron|GRID2_uc011cdv.1_RNA NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 147 Extracellular (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) TCTCTCAGTTCGCCCACCTGT 0.478 NaN 0 0 0 0.000602214 0 5 27 FBXW7 55294 broad.mit.edu 37 4 153244124 153244124 + Nonsense_Mutation SNP G G C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr4:153244124G>C uc003ims.2 - 12 2182 c.2033C>G c.(2032-2034)TCA>TGA p.S678* FBXW7_uc011cii.1_Nonsense_Mutation_p.S678*|FBXW7_uc003imt.2_Nonsense_Mutation_p.S678*|FBXW7_uc011cih.1_Nonsense_Mutation_p.S502*|FBXW7_uc003imq.2_Nonsense_Mutation_p.S598*|FBXW7_uc003imr.2_Nonsense_Mutation_p.S560* NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 678 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) CTTTGTGTTTGAGGCTCTGAT 0.493 NaN Mis|N|D|F colorectal|endometrial|T-ALL 0 0 0 0.000781405 0 47 52 GALNTL6 442117 broad.mit.edu 37 4 173269794 173269794 + Silent SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr4:173269794G>A uc003isv.2 + 5 1243 c.507G>A c.(505-507)GGG>GGA p.G169G NM_001034845 NP_001030017 Q49A17 GLTL6_HUMAN N-acetylgalactosaminyltransferase-like 6 169 Catalytic subdomain A.|Lumenal (Potential). Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|ovary(1)|skin(1) 4 GAACCCCAGGGAGTCTGATAG 0.403 NaN 0 0 0 0.000219431 0 14 29 RASA1 5921 broad.mit.edu 37 5 86645051 86645051 + Missense_Mutation SNP C C G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr5:86645051C>G uc003kiw.2 + 8 1241 c.1123C>G c.(1123-1125)CTT>GTT p.L375V RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.L198V|RASA1_uc011ctv.1_Missense_Mutation_p.L208V|RASA1_uc011ctw.1_Missense_Mutation_p.L209V|RASA1_uc010jaw.2_Missense_Mutation_p.L197V NM_002890 NP_002881 P20936 RASA1_HUMAN RAS p21 protein activator 1 isoform 1 375 SH2 2. cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding upper_aerodigestive_tract(3)|ovary(1)|lung(1) 5 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) CTGCAGTTTTCTTGTGAGGCC 0.333 NaN 0 0 0 0.000157383 0 8 32 FSTL4 23105 broad.mit.edu 37 5 132736544 132736544 + Missense_Mutation SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr5:132736544G>A uc003kyn.1 - 4 513 c.295C>T c.(295-297)CCT>TCT p.P99S NM_015082 NP_055897 Q6MZW2 FSTL4_HUMAN follistatin-like 4 precursor 99 Kazal-like. extracellular region calcium ion binding central_nervous_system(1)|skin(1) 2 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCGCACACAGGCACGTAGCTG 0.602 NaN 0 0 0 0.000175454 0 19 46 KDM3B 51780 broad.mit.edu 37 5 137727502 137727502 + Silent SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr5:137727502G>A uc003lcy.1 + 8 2381 c.2181G>A c.(2179-2181)TCG>TCA p.S727S KDM3B_uc010jew.1_Silent_p.S383S|KDM3B_uc011cys.1_Intron NM_016604 NP_057688 Q7LBC6 KDM3B_HUMAN jumonji domain containing 1B 727 Ser-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1) 11 GCTCCAGCTCGCCCACCAGCA 0.607 NaN 0 0 0 0.000442599 0 10 77 PCDHGA3 56112 broad.mit.edu 37 5 140725479 140725479 + Missense_Mutation SNP C C T rs62378406 TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr5:140725479C>T uc003ljm.1 + 1 1879 c.1879C>T c.(1879-1881)CGC>TGC p.R627C PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.R387C|PCDHGA3_uc011dap.1_Missense_Mutation_p.R627C NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 627 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGCGAGGTGCGCACGGCGCG 0.697 NaN 0 0 0 0.000229342 0 15 61 COL23A1 91522 broad.mit.edu 37 5 177673290 177673290 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr5:177673290C>T uc003mje.2 - 24 1736 c.1378G>A c.(1378-1380)GGC>AGC p.G460S COL23A1_uc010jkt.2_Missense_Mutation_p.G342S NM_173465 NP_775736 Q86Y22 CONA1_HUMAN collagen, type XXIII, alpha 1 460 Extracellular (Potential).|Collagen-like 4.|Gly-rich. collagen|integral to membrane|plasma membrane protein binding central_nervous_system(1)|skin(1) 2 all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172) CCAATAAGGCCCGGTGGGCCA 0.557 NaN 0 0 0 0.00024832 0 3 6 PECI 10455 broad.mit.edu 37 6 4117578 4117578 + Nonsense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr6:4117578C>T uc003mwf.2 - 9 1030 c.993G>A c.(991-993)TGG>TGA p.W331* C6orf201_uc003mwa.3_Intron|C6orf201_uc003mvz.3_Intron|C6orf201_uc011dhw.1_Intron|C6orf201_uc003mwb.3_Intron|PECI_uc003mwc.2_Nonsense_Mutation_p.W164*|PECI_uc003mwd.2_Nonsense_Mutation_p.W301*|PECI_uc003mwe.2_Nonsense_Mutation_p.W178*|PECI_uc010jnr.1_RNA NM_206836 NP_996667 O75521 ECI2_HUMAN peroxisomal D3,D2-enoyl-CoA isomerase isoform 2 331 fatty acid metabolic process mitochondrion|peroxisomal matrix dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding 0 Ovarian(93;0.0925) all_hematologic(90;0.0895) TCAGCCTGGTCCAGACTTCTT 0.383 NaN 0 0 0 0.000191422 0 34 54 HIST1H2BF 8343 broad.mit.edu 37 6 26200019 26200019 + Missense_Mutation SNP C C G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr6:26200019C>G uc003ngx.2 + 1 233 c.233C>G c.(232-234)GCT>GGT p.A78G HIST1H3D_uc003ngv.2_5'Flank|HIST1H2AD_uc003ngw.2_5'Flank NM_003522 NP_003513 P62807 H2B1C_HUMAN histone cluster 1, H2bf 78 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding 0 all_hematologic(11;0.196) GCTGGCGAGGCTTCCCGCCTG 0.622 NaN 0 0 0 0.00074312 0 17 142 BRPF3 27154 broad.mit.edu 37 6 36168333 36168333 + Silent SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr6:36168333G>A uc003olv.3 + 2 458 c.234G>A c.(232-234)AAG>AAA p.K78K BRPF3_uc010jwb.2_Silent_p.K78K|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Silent_p.K78K NM_015695 NP_056510 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 78 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding ovary(1)|skin(1) 2 ATAGTAACAAGGAAAACAGTG 0.463 NaN 0 0 0 0.000673444 0 11 75 C6orf142 90523 broad.mit.edu 37 6 54095691 54095691 + Silent SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr6:54095691C>T uc003pcg.3 + 11 1406 c.1293C>T c.(1291-1293)CTC>CTT p.L431L C6orf142_uc003pch.3_Intron|C6orf142_uc011dxa.1_Silent_p.L966L NM_138569 NP_612636 Q5VWP3 MLIP_HUMAN hypothetical protein LOC90523 431 nuclear envelope|PML body protein binding 0 Lung NSC(77;0.0317) CTCACACCCTCCTCAGTCACA 0.463 NaN 0 0 0 6.40141e-05 0 12 60 ZNF451 26036 broad.mit.edu 37 6 57013396 57013396 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr6:57013396C>T uc003pdm.1 + 10 2737 c.2513C>T c.(2512-2514)TCA>TTA p.S838L ZNF451_uc003pdl.2_Missense_Mutation_p.S838L|ZNF451_uc003pdn.1_Missense_Mutation_p.S838L|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.S838L NM_001031623 NP_001026794 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 isoform 1 838 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) GCTAGTGCCTCACATACAGAG 0.373 NaN 0 0 0 0.000274275 0 8 13 ASCC3 10973 broad.mit.edu 37 6 101049784 101049784 + Missense_Mutation SNP T T G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr6:101049784T>G uc003pqk.2 - 34 5534 c.5205A>C c.(5203-5205)TTA>TTC p.L1735F NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 1735 Helicase C-terminal 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(5)|skin(1) 6 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) TCTCTGCATTTAAGTGGTCAG 0.368 NaN 0 0 0 6.4e-05 0 3 53 ROS1 6098 broad.mit.edu 37 6 117714423 117714423 + Missense_Mutation SNP C C A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr6:117714423C>A uc003pxp.1 - 11 1425 c.1226G>T c.(1225-1227)AGT>ATT p.S409I ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 409 Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TTGAGGTGCACTAATAGAGGG 0.348 NaN T GOPC|ROS1 glioblastoma|NSCLC 1 0 7.93312e-07 0.000219431 9.29308e-06 13 239 STX11 8676 broad.mit.edu 37 6 144508445 144508445 + Silent SNP C C G rs145774130 byFrequency TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr6:144508445C>G uc003qks.3 + 2 873 c.681C>G c.(679-681)CTC>CTG p.L227L NM_003764 NP_003755 O75558 STX11_HUMAN syntaxin 11 227 t-SNARE coiled-coil homology. cellular membrane fusion|intracellular protein transport|vesicle-mediated transport Golgi apparatus|membrane SNAP receptor activity ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492) TACACGAGCTCTTCTTGCAGA 0.652 NaN Familial_Hemophagocytic_Lymphohistiocytosis 0 0 0 8.12818e-05 0 7 30 FIGNL1 63979 broad.mit.edu 37 7 50513419 50513419 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr7:50513419C>T uc003tpc.2 - 4 1944 c.1567G>A c.(1567-1569)GAA>AAA p.E523K FIGNL1_uc003tpb.2_Missense_Mutation_p.E412K|FIGNL1_uc003tpd.2_Missense_Mutation_p.E523K|FIGNL1_uc003tpe.2_Missense_Mutation_p.E523K|FIGNL1_uc010kyy.2_Missense_Mutation_p.E523K NM_001042762 NP_001036227 Q6PIW4 FIGL1_HUMAN fidgetin-like 1 523 ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle cytoplasm|nucleus ATP binding|magnesium ion binding|nucleoside-triphosphatase activity ovary(3) 3 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06) ACTAAAAATTCTGTTTTTATC 0.413 NaN 0 0 0 0.000878237 0 29 111 TBL2 26608 broad.mit.edu 37 7 72988323 72988323 + Missense_Mutation SNP T T C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr7:72988323T>C uc003tyh.2 - 3 525 c.391A>G c.(391-393)AGA>GGA p.R131G TBL2_uc011kex.1_Missense_Mutation_p.R95G|TBL2_uc010lbg.2_Missense_Mutation_p.R36G|TBL2_uc003tyi.2_5'UTR|TBL2_uc011key.1_Missense_Mutation_p.R2G|TBL2_uc010lbh.2_Missense_Mutation_p.R36G NM_012453 NP_036585 Q9Y4P3 TBL2_HUMAN transducin (beta)-like 2 131 0 Lung NSC(55;0.0659)|all_lung(88;0.152) ACGTTGGCTCTCATGCTGCGG 0.602 NaN 0 0 0 0.000157383 0 8 104 SLC25A40 55972 broad.mit.edu 37 7 87473129 87473129 + Silent SNP T T C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr7:87473129T>C uc003uje.2 - 9 1032 c.681A>G c.(679-681)AAA>AAG p.K227K NM_018843 NP_061331 Q8TBP6 S2540_HUMAN mitochondrial carrier family protein 227 transmembrane transport integral to membrane|mitochondrial inner membrane binding haematopoietic_and_lymphoid_tissue(1) 1 Esophageal squamous(14;0.00202) ATAAACCAGATTTCTCACATA 0.294 NaN 0 0 0 0.000151284 0 12 20 PON2 5445 broad.mit.edu 37 7 95041045 95041045 + Silent SNP A A G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr7:95041045A>G uc003unv.2 - 5 535 c.414T>C c.(412-414)AAT>AAC p.N138N PON2_uc003unu.2_Silent_p.N126N|PON2_uc010lfk.2_RNA|PON2_uc003unw.2_Silent_p.N51N NM_000305 NP_000296 Q15165 PON2_HUMAN paraoxonase 2 isoform 1 138 aromatic compound catabolic process extracellular region|plasma membrane arylesterase activity|identical protein binding|metal ion binding 0 all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09) STAD - Stomach adenocarcinoma(171;0.0151) TTTCCACTGTATTCTTGAATT 0.348 NaN 0 0 0 3.59834e-05 0 6 32 SMURF1 57154 broad.mit.edu 37 7 98639810 98639810 + Silent SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr7:98639810G>A uc003upu.1 - 13 1700 c.1380C>T c.(1378-1380)TAC>TAT p.Y460Y SMURF1_uc003upv.1_Silent_p.Y434Y|SMURF1_uc003upt.2_Silent_p.Y434Y NM_020429 NP_065162 Q9HCE7 SMUF1_HUMAN Smad ubiquitination regulatory factor 1 isoform 460 HECT. BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|plasma membrane activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity skin(2)|ovary(1)|lung(1) 4 all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224) GGAAGAGCCCGTAATAAGGAT 0.388 NaN 0 0 0 0.000219431 0 11 120 RELN 5649 broad.mit.edu 37 7 103214705 103214705 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr7:103214705C>T uc003vca.2 - 30 4505 c.4345G>A c.(4345-4347)GAG>AAG p.E1449K RELN_uc010liz.2_Missense_Mutation_p.E1449K NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1449 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TCGAACATCTCATTGTGATTG 0.458 NaN 0 0 0 8.12818e-05 0 6 58 RELN 5649 broad.mit.edu 37 7 103275933 103275933 + Missense_Mutation SNP C C G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr7:103275933C>G uc003vca.2 - 19 2564 c.2404G>C c.(2404-2406)GAT>CAT p.D802H RELN_uc010liz.2_Missense_Mutation_p.D802H NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 802 BNR 2. axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) ATCCCATTATCATAAGAATAA 0.438 NaN 0 0 0 0.00024832 0 4 69 CPA1 1357 broad.mit.edu 37 7 130022031 130022031 + Missense_Mutation SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr7:130022031G>A uc003vpx.2 + 4 536 c.464G>A c.(463-465)CGT>CAT p.R155H CPA1_uc011kpf.1_Missense_Mutation_p.R67H|CPA1_uc003vpw.2_Intron NM_001868 NP_001859 P15085 CBPA1_HUMAN carboxypeptidase A1 precursor 155 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding ovary(1) 1 Melanoma(18;0.0435) TATGAAGGGCGTCCCATTTAC 0.552 NaN 0 0 0 0.000442599 0 9 100 SLC37A3 84255 broad.mit.edu 37 7 140058547 140058547 + Missense_Mutation SNP G G C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr7:140058547G>C uc003vvo.2 - 6 580 c.414C>G c.(412-414)TTC>TTG p.F138L SLC37A3_uc003vvp.2_Missense_Mutation_p.F138L|SLC37A3_uc010lnh.2_Missense_Mutation_p.F138L|SLC37A3_uc011kqz.1_Intron|SLC37A3_uc011kra.1_Missense_Mutation_p.F138L|SLC37A3_uc011krb.1_Missense_Mutation_p.F110L NM_207113 NP_996996 Q8NCC5 SPX3_HUMAN solute carrier family 37 (glycerol-3-phosphate 138 carbohydrate transport|transmembrane transport integral to membrane ovary(3) 3 Melanoma(164;0.0142) ATTTGTTGTAGAAACGCAGCC 0.507 NaN 0 0 0 0.000586117 0 23 228 KRBA1 84626 broad.mit.edu 37 7 149422508 149422508 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr7:149422508C>T uc003wfz.2 + 10 1628 c.1229C>T c.(1228-1230)TCC>TTC p.S410F KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_Missense_Mutation_p.S78F NM_032534 NP_115923 A5PL33 KRBA1_HUMAN KRAB A domain containing 1 410 ovary(1)|central_nervous_system(1) 2 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) ACTTCTTGTTCCCAGAACCCC 0.602 NaN 0 0 0 8.12818e-05 0 6 26 XKR6 286046 broad.mit.edu 37 8 10755762 10755762 + Silent SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr8:10755762C>T uc003wtk.1 - 3 1653 c.1626G>A c.(1624-1626)ACG>ACA p.T542T NM_173683 NP_775954 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related 542 integral to membrane ovary(1)|skin(1) 2 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) CTCTGGTGGGCGTAACCTGGG 0.637 NaN 0 0 0 0.000274275 0 8 38 DLC1 10395 broad.mit.edu 37 8 12947882 12947882 + Missense_Mutation SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr8:12947882G>A uc003wwm.2 - 15 4397 c.3953C>T c.(3952-3954)TCA>TTA p.S1318L DLC1_uc003wwk.1_Missense_Mutation_p.S881L|DLC1_uc003wwl.1_Missense_Mutation_p.S915L|DLC1_uc011kxx.1_Missense_Mutation_p.S807L NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 1318 START. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 GTAGTCAGCTGAGTCATCATT 0.512 NaN 0 0 0 0.000673444 0 11 71 RIMS2 9699 broad.mit.edu 37 8 105160951 105160951 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr8:105160951C>T uc003yls.2 + 23 3504 c.3263C>T c.(3262-3264)TCT>TTT p.S1088F RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.S1077F|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 516 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GGCAGCCAGTCTGACACTGCA 0.517 NaN HNSCC(12;0.0054) 0 0 0 0.00024832 0 4 16 SYBU 55638 broad.mit.edu 37 8 110592172 110592172 + Nonsense_Mutation SNP G G T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr8:110592172G>T uc003ynj.3 - 5 753 c.590C>A c.(589-591)TCA>TAA p.S197* SYBU_uc003yni.3_Nonsense_Mutation_p.S194*|SYBU_uc003ynk.3_Nonsense_Mutation_p.S78*|SYBU_uc010mco.2_Nonsense_Mutation_p.S196*|SYBU_uc003ynl.3_Nonsense_Mutation_p.S196*|SYBU_uc010mcp.2_Nonsense_Mutation_p.S197*|SYBU_uc010mcq.2_Nonsense_Mutation_p.S197*|SYBU_uc003yno.3_Nonsense_Mutation_p.S78*|SYBU_uc010mcr.2_Nonsense_Mutation_p.S197*|SYBU_uc003ynm.3_Nonsense_Mutation_p.S196*|SYBU_uc003ynn.3_Nonsense_Mutation_p.S196*|SYBU_uc010mcs.2_Nonsense_Mutation_p.S78*|SYBU_uc010mct.2_Nonsense_Mutation_p.S197*|SYBU_uc010mcu.2_Nonsense_Mutation_p.S196*|SYBU_uc003ynp.3_Nonsense_Mutation_p.S129*|SYBU_uc010mcv.2_Nonsense_Mutation_p.S197*|SYBU_uc003ynh.3_5'UTR|SYBU_uc011lhw.1_Nonsense_Mutation_p.S67* NM_001099754 NP_001093224 Q9NX95 SYBU_HUMAN Golgi-localized syntaphilin-related protein 197 Sufficient for interaction with KIF5B.|Ser-rich. cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane ovary(1) 1 CCGCGGGGATGATGGGCTGCT 0.517 NaN 1 0 6.44725e-10 0.000295444 7.6475e-09 18 131 ENPP2 5168 broad.mit.edu 37 8 120577110 120577110 + Silent SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr8:120577110G>A uc003yot.1 - 23 2303 c.2217C>T c.(2215-2217)TTC>TTT p.F739F ENPP2_uc011lic.1_Silent_p.F277F|ENPP2_uc003yor.1_Silent_p.F374F|ENPP2_uc003yos.1_Silent_p.F791F|ENPP2_uc010mdd.1_Silent_p.F764F NM_001040092 NP_001035181 Q13822 ENPP2_HUMAN autotaxin isoform 2 preproprotein 739 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1) 7 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) AGTCATAGTCGAAGATTGGTC 0.378 NaN 0 0 0 3.59834e-05 0 6 41 ATAD2 29028 broad.mit.edu 37 8 124382178 124382178 + Missense_Mutation SNP C C G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr8:124382178C>G uc003yqh.3 - 7 922 c.814G>C c.(814-816)GAT>CAT p.D272H ATAD2_uc011lii.1_Missense_Mutation_p.D63H|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.D272H NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 272 Asp-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity ovary(2) 2 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) tcatcatcatcatcatcgtca 0.164 NaN 0 0 0 0.000602214 0 5 23 CPSF1 29894 broad.mit.edu 37 8 145622615 145622615 + Missense_Mutation SNP G G C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr8:145622615G>C uc003zcj.2 - 23 2474 c.2399C>G c.(2398-2400)CCC>CGC p.P800R NM_013291 NP_037423 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 800 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding skin(1) 1 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) CCGCCAGTCGGGAAGCTGGTA 0.647 NaN 0 0 0 6.4e-05 0 2 3 TOR2A 27433 broad.mit.edu 37 9 130496823 130496823 + Nonsense_Mutation SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr9:130496823G>A uc004brs.3 - 2 227 c.172C>T c.(172-174)CAG>TAG p.Q58* TOR2A_uc004brt.3_Nonsense_Mutation_p.Q58*|TOR2A_uc004brw.3_Nonsense_Mutation_p.Q58*|TOR2A_uc011maj.1_Intron|TOR2A_uc004bru.3_Intron|TOR2A_uc004brv.3_Intron|TOR2A_uc004brx.1_5'UTR NM_001085347 NP_001078816 Q5JU69 TOR2A_HUMAN torsin family 2, member A isoform a 58 chaperone mediated protein folding requiring cofactor endoplasmic reticulum|extracellular region ATP binding|nucleoside-triphosphatase activity 0 GCCAGGTGCTGAGCCAGGTCA 0.632 NaN OREG0019509 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.000308642 0 14 26 ASS1 445 broad.mit.edu 37 9 133364826 133364826 + Missense_Mutation SNP G G C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr9:133364826G>C uc004bzm.2 + 13 1301 c.945G>C c.(943-945)TTG>TTC p.L315F ASS1_uc004bzn.2_Missense_Mutation_p.L315F|ASS1_uc010mza.2_Missense_Mutation_p.L391F|ASS1_uc004bzo.2_Missense_Mutation_p.L296F|ASS1_uc010mzb.2_Missense_Mutation_p.L353F|ASS1_uc004bzp.2_Missense_Mutation_p.L315F|ASS1_uc010mzc.2_Missense_Mutation_p.L315F NM_000050 NP_000041 P00966 ASSY_HUMAN argininosuccinate synthetase 1 315 arginine biosynthetic process|urea cycle cytosol argininosuccinate synthase activity|ATP binding|protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(145;0.000514) Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155) GCCTGGGCTTGAAATTTGCTG 0.542 NaN 0 0 0 0.000375601 0 21 221 FRMPD4 9758 broad.mit.edu 37 X 12736510 12736510 + Missense_Mutation SNP C C A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chrX:12736510C>A uc004cuz.1 + 16 4071 c.3565C>A c.(3565-3567)CGC>AGC p.R1189S FRMPD4_uc011mij.1_Missense_Mutation_p.R1181S NM_014728 NP_055543 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 1189 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1) 13 GAGTGTGGCCCGCCTTTGTGA 0.552 NaN 1 0 6.36457e-07 0.000586117 7.50224e-06 24 131 FAM47C 442444 broad.mit.edu 37 X 37027156 37027156 + Missense_Mutation SNP C C G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chrX:37027156C>G uc004ddl.1 + 1 687 c.673C>G c.(673-675)CAG>GAG p.Q225E NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 225 ovary(3) 3 TCTCCGCCCACAGCCTCCCAA 0.647 NaN 0 0 0 0.000602214 0 5 79 KDM6A 7403 broad.mit.edu 37 X 44949018 44949018 + Nonsense_Mutation SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chrX:44949018G>A uc004dge.3 + 25 3954 c.3579G>A c.(3577-3579)TGG>TGA p.W1193* KDM6A_uc011mkz.1_Nonsense_Mutation_p.W1245*|KDM6A_uc011mla.1_Nonsense_Mutation_p.W1148*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.W1200*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.W897*|KDM6A_uc011mld.1_Nonsense_Mutation_p.W832* NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 1193 JmjC. histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 TGGGTTCTTGGTGGCCCAATC 0.353 NaN D|N|F|S renal|oesophageal SCC|MM 0 0 0 0.000157383 0 6 16 IGSF1 3547 broad.mit.edu 37 X 130411013 130411013 + Silent SNP G G T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chrX:130411013G>T uc004ewd.2 - 14 2746 c.2508C>A c.(2506-2508)ATC>ATA p.I836I IGSF1_uc004ewe.3_Silent_p.I830I|IGSF1_uc004ewf.2_Silent_p.I816I NM_001555 NP_001546 Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 isoform 1 836 Extracellular (Potential).|Ig-like C2-type 8. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding ovary(3)|lung(1)|central_nervous_system(1) 5 CCACCGAAATGATTAGAAAGT 0.498 NaN 1 0 8.28887e-21 0.000781405 1.0021e-19 52 446 FAM58A 92002 broad.mit.edu 37 X 152858023 152858023 + Missense_Mutation SNP G G C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chrX:152858023G>C uc010nug.2 - 3 515 c.412C>G c.(412-414)CTG>GTG p.L138V Q8N1B3 FA58A_HUMAN RecName: Full=Cyclin-related protein FAM58B; 200 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent protein kinase binding 0 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TAGACCTGCAGGGCCAGGTAG 0.692 NaN 0 0 0 8.12818e-05 0 7 31 EMD 2010 broad.mit.edu 37 X 153609241 153609241 + Splice_Site SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chrX:153609241G>A uc004fkl.2 + 6 698 c.450_splice c.e6-1 p.R150_splice NM_000117 NP_000108 P50402 EMD_HUMAN emerin cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane actin binding|beta-tubulin binding 0 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TTTTGCCTCAGGGAACGCCCC 0.622 NaN 0 0 0 0.000219431 0 13 86 SMARCE1 6605 broad.mit.edu 37 17 38792242 38792247 + In_Frame_Del DEL TGTCTC TGTCTC - TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr17:38792242_38792247delTGTCTC uc002hux.2 - 7 601_606 c.477_482delGAGACA c.(475-483)CAGAGACAA>CAA p.159_161QRQ>Q SMARCE1_uc010wff.1_In_Frame_Del_p.124_126QRQ>Q|SMARCE1_uc010wfg.1_In_Frame_Del_p.89_91QRQ>Q|SMARCE1_uc002huy.2_In_Frame_Del_p.124_126QRQ>Q|SMARCE1_uc010wfh.1_In_Frame_Del_p.89_91QRQ>Q|SMARCE1_uc010wfi.1_In_Frame_Del_p.141_143QRQ>Q|SMARCE1_uc002huz.1_In_Frame_Del_p.124_126QRQ>Q|SMARCE1_uc010wfj.1_In_Frame_Del_p.141_143QRQ>Q NM_003079 NP_003070 Q969G3 SMCE1_HUMAN SWI/SNF-related matrix-associated 159_161 chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity 0 Breast(137;0.000812) CATGCGAGATTGTCTCTGTCGACTTT 0.422 NaN NaN NaN NaN NaN NaN 16 99 --- --- ZNF180 7733 broad.mit.edu 37 19 44982133 44982134 + Frame_Shift_Del DEL CT CT - TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr19:44982133_44982134delCT uc002ozf.3 - 5 846_847 c.564_565delAG c.(562-567)AGAGTCfs p.R188fs ZNF180_uc002ozh.3_5'UTR|ZNF180_uc002ozi.3_Frame_Shift_Del_p.R161fs|ZNF180_uc002ozg.3_Frame_Shift_Del_p.R187fs|ZNF180_uc010ejm.2_Frame_Shift_Del_p.R163fs NM_013256 NP_037388 Q9UJW8 ZN180_HUMAN zinc finger protein 180 188_189 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Prostate(69;0.0435) CTTTTGCAGACTCTCTCATGAA 0.391 NaN NaN NaN NaN NaN NaN 7 83 --- ---