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 C8A 731 broad.mit.edu 37 1 57373628 57373628 + Splice_Site SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr1:57373628G>A uc001cyo.2 + 9 1355 c.1223_splice c.e9-1 p.E408_splice NM_000562 NP_000553 P07357 CO8A_HUMAN complement component 8, alpha polypeptide complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex ovary(1)|central_nervous_system(1)|skin(1) 3 CTTGATGGCAGAAAGGGCCAG 0.488 NaN 0 0 0 0.049695 0 14 38 OR6N2 81442 broad.mit.edu 37 1 158746645 158746645 + Missense_Mutation SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr1:158746645G>A uc010pir.1 - 1 781 c.781C>T c.(781-783)CGG>TGG p.R261W NM_001005278 NP_001005278 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, 261 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_hematologic(112;0.0378) TTCTTTAGCCGCACATACATG 0.433 NaN 0 0 0 0.09319 0 12 38 DNM3 26052 broad.mit.edu 37 1 171890908 171890908 + Missense_Mutation SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr1:171890908C>T uc001gie.2 + 2 358 c.182C>T c.(181-183)TCG>TTG p.S61L DNM3_uc001gid.3_Missense_Mutation_p.S61L|DNM3_uc009wwb.2_Missense_Mutation_p.S61L|DNM3_uc001gif.2_Missense_Mutation_p.S61L NM_015569 NP_056384 Q9UQ16 DYN3_HUMAN dynamin 3 isoform a 61 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding breast(1) 1 CCTCGAGGGTCGGGCATTGTA 0.433 NaN 0 0 0 0.080935 0 9 10 PROX1 5629 broad.mit.edu 37 1 214184960 214184960 + Missense_Mutation SNP A A C TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr1:214184960A>C uc001hkh.2 + 4 2202 c.1930A>C c.(1930-1932)AAC>CAC p.N644H NM_002763 NP_002754 Q92786 PROX1_HUMAN prospero homeobox 1 644 Prospero-like. aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding ovary(3)|lung(1)|central_nervous_system(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) TCAAGCCATCAACGATGGGGT 0.443 NaN 0 0 0 0.139131 0 64 8 ANKRD30A 91074 broad.mit.edu 37 10 37430773 37430773 + Silent SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr10:37430773G>A uc001iza.1 + 7 879 c.780G>A c.(778-780)ACG>ACA p.T260T NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 316 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 CACCTGACACGGCTGAAAGCT 0.493 NaN 0 0 0 0.115264 0 3 51 KIF11 3832 broad.mit.edu 37 10 94405356 94405356 + Missense_Mutation SNP C C G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr10:94405356C>G uc001kic.2 + 18 2812 c.2504C>G c.(2503-2505)TCT>TGT p.S835C KIF11_uc010qnq.1_Intron NM_004523 NP_004514 P52732 KIF11_HUMAN kinesin family member 11 835 blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole ATP binding|microtubule motor activity|protein kinase binding skin(1) 1 CAGTGGGTATCTTCCTTAAAT 0.343 NaN 0 0 0 0.0333 0 14 20 PGAM1 5223 broad.mit.edu 37 10 99190742 99190742 + Missense_Mutation SNP C C G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr10:99190742C>G uc001knh.2 + 3 483 c.445C>G c.(445-447)CAG>GAG p.Q149E PGAM1_uc009xvo.2_Intron|PGAM1_uc010qov.1_Missense_Mutation_p.Q134E NM_002629 NP_002620 P18669 PGAM1_HUMAN phosphoglycerate mutase 1 149 gluconeogenesis|glycolysis|regulation of glycolysis|regulation of pentose-phosphate shunt|respiratory burst cytosol 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity|protein kinase binding 0 Colorectal(252;0.162) Epithelial(162;8.36e-10)|all cancers(201;5.62e-08) CACAGAAGATCAGCTACCCTC 0.433 NaN 0 0 0 0.0918 0 15 28 SEC23IP 11196 broad.mit.edu 37 10 121663630 121663630 + Silent SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr10:121663630G>A uc001leu.1 + 4 1014 c.942G>A c.(940-942)ACG>ACA p.T314T SEC23IP_uc010qtc.1_Silent_p.T103T NM_007190 NP_009121 Q9Y6Y8 S23IP_HUMAN Sec23-interacting protein p125 314 Interaction with SEC23A. Golgi organization|intracellular protein transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment metal ion binding ovary(3) 3 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) TTCTTGGCACGGATGGAGGGC 0.453 NaN 0 0 0 0.014758 0 4 53 KRTAP5-5 439915 broad.mit.edu 37 11 1651442 1651442 + Silent SNP G G T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr11:1651442G>T uc001lty.2 + 1 410 c.372G>T c.(370-372)GGG>GGT p.G124G NM_001001480 NP_001001480 Q701N2 KRA55_HUMAN keratin associated protein 5-5 124 8 X 4 AA repeats of C-C-X-P. keratin filament lung(1) 1 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCTGTGGGGGGTCCAAGGGGG 0.692 NaN 1 0 0.00116845 0.021553 0.00122948 3 21 KRTAP5-5 439915 broad.mit.edu 37 11 1651459 1651459 + Missense_Mutation SNP G G T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr11:1651459G>T uc001lty.2 + 1 427 c.389G>T c.(388-390)GGC>GTC p.G130V NM_001001480 NP_001001480 Q701N2 KRA55_HUMAN keratin associated protein 5-5 130 8 X 4 AA repeats of C-C-X-P. keratin filament lung(1) 1 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GGGGGCTGTGGCTCCTGTGGG 0.692 NaN 1 0 0.00116845 0.021553 0.00122948 3 18 NUP98 4928 broad.mit.edu 37 11 3794864 3794864 + Missense_Mutation SNP C C G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr11:3794864C>G uc001lyh.2 - 6 892 c.601G>C c.(601-603)GAG>CAG p.E201Q NUP98_uc001lyi.2_Missense_Mutation_p.E201Q|NUP98_uc001lyj.1_Missense_Mutation_p.E201Q|NUP98_uc001lyk.1_Missense_Mutation_p.E201Q|NUP98_uc010qxv.1_Missense_Mutation_p.E164Q NM_016320 NP_057404 P52948 NUP98_HUMAN nucleoporin 98kD isoform 1 201 Gly/Thr-rich. carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1) 12 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) TTACTGACCTCTAGTGACTTG 0.343 NaN T HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11 AML 0 0 0 0.105934 0 11 8 OR52B6 340980 broad.mit.edu 37 11 5602231 5602231 + Missense_Mutation SNP A A C TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr11:5602231A>C uc010qzi.1 + 1 125 c.125A>C c.(124-126)CAA>CCA p.Q42P HBG2_uc001mak.1_Intron NM_001005162 NP_001005162 Q8NGF0 O52B6_HUMAN olfactory receptor, family 52, subfamily B, 42 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGGCTGGAGCAACTACATATC 0.502 NaN 0 0 0 0.038147 0 7 12 OR5A2 219981 broad.mit.edu 37 11 59189895 59189895 + Missense_Mutation SNP A A C TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr11:59189895A>C uc010rkt.1 - 1 532 c.532T>G c.(532-534)TTT>GTT p.F178V NM_001001954 NP_001001954 Q8NGI9 OR5A2_HUMAN olfactory receptor, family 5, subfamily A, 178 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TCACAGAAAAAGTGGTTGATC 0.483 NaN 0 0 0 0.009096 0 3 65 OR6X1 390260 broad.mit.edu 37 11 123624493 123624493 + Missense_Mutation SNP A A G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr11:123624493A>G uc010rzy.1 - 1 734 c.734T>C c.(733-735)GTT>GCT p.V245A NM_001005188 NP_001005188 Q8NH79 OR6X1_HUMAN olfactory receptor, family 6, subfamily X, 245 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) CAGGGAGACAACTGTCAGGTG 0.453 NaN 0 0 0 0.09319 0 13 22 SLC37A2 219855 broad.mit.edu 37 11 124952197 124952197 + Missense_Mutation SNP C C A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr11:124952197C>A uc001qbn.2 + 10 1194 c.943C>A c.(943-945)CTC>ATC p.L315I SLC37A2_uc010sau.1_Missense_Mutation_p.L315I|SLC37A2_uc010sav.1_5'Flank|SLC37A2_uc001qbp.2_5'Flank NM_001145290 NP_001138762 Q8TED4 SPX2_HUMAN solute carrier family 37 (glycerol-3-phosphate 315 Helical; (Potential). carbohydrate transport|transmembrane transport integral to membrane ovary(2) 2 all_hematologic(175;0.215) Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384) TTACACCTTCCTCTACTGGCT 0.587 NaN 1 0 9.45814e-24 0.074837 1.06688e-23 30 48 PRB1 5542 broad.mit.edu 37 12 11506602 11506602 + Silent SNP T T C TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr12:11506602T>C uc001qzw.1 - 3 472 c.435A>G c.(433-435)GGA>GGG p.G145G PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron NM_005039 NP_005030 P04280 PRP1_HUMAN proline-rich protein BstNI subfamily 1 isoform 1 206 15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].|8. Missing (in clone CP-4).|Missing (in clone CP-5).|Missing (in allele S). extracellular region 0 OV - Ovarian serous cystadenocarcinoma(49;0.185) GGGACTTGTCTCCTTGTGGGG 0.607 NaN 0 0 0 0.009096 0 4 144 BCL2L14 79370 broad.mit.edu 37 12 12232321 12232321 + Missense_Mutation SNP G G A rs142096906 byFrequency TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr12:12232321G>A uc001rac.2 + 2 283 c.82G>A c.(82-84)GCC>ACC p.A28T ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_RNA|BCL2L14_uc001rad.2_Missense_Mutation_p.A28T|BCL2L14_uc001rae.2_Missense_Mutation_p.A28T NM_138723 NP_620049 Q9BZR8 B2L14_HUMAN BCL2-like 14 isoform 1 28 apoptosis|regulation of apoptosis cytosol|endomembrane system|intracellular organelle|membrane protein binding skin(1) 1 Prostate(47;0.0872) BRCA - Breast invasive adenocarcinoma(232;0.154) CAAAATCCTCGCCTACTACAC 0.488 NaN 0 0 0 0.083992 0 22 29 PAN2 9924 broad.mit.edu 37 12 56716212 56716212 + Missense_Mutation SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr12:56716212C>T uc001skx.2 - 19 3077 c.2704G>A c.(2704-2706)GAT>AAT p.D902N PAN2_uc001skw.2_Missense_Mutation_p.D50N|PAN2_uc001skz.2_Missense_Mutation_p.D901N|PAN2_uc001sky.2_Missense_Mutation_p.D898N NM_001127460 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 polyA specific ribonuclease subunit homolog 902 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity ovary(2)|skin(2)|large_intestine(1)|breast(1) 6 CTAACCTTATCAATAGGTTCA 0.408 NaN 0 0 0 0.132662 0 12 42 MTMR6 9107 broad.mit.edu 37 13 25840079 25840079 + Missense_Mutation SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr13:25840079C>T uc001uqf.3 - 5 788 c.469G>A c.(469-471)GAA>AAA p.E157K MTMR6_uc001uqe.1_Missense_Mutation_p.E157K NM_004685 NP_004676 Q9Y217 MTMR6_HUMAN myotubularin related protein 6 157 Myotubularin phosphatase. cytoplasm|nuclear envelope calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity ovary(2)|skin(2) 4 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164) GGGTAAGTTTCACAAATCTGT 0.353 NaN 0 0 0 0.09319 0 11 17 AKAP11 11215 broad.mit.edu 37 13 42876628 42876628 + Nonsense_Mutation SNP C C G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr13:42876628C>G uc001uys.1 + 8 3921 c.3746C>G c.(3745-3747)TCA>TGA p.S1249* NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN A-kinase anchor protein 11 1249 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding ovary(1)|central_nervous_system(1) 2 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) TTAAACCCCTCAGACGAAAAT 0.363 NaN 0 0 0 0.038395 0 16 5 IRS2 8660 broad.mit.edu 37 13 110436504 110436504 + Missense_Mutation SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr13:110436504C>T uc001vqv.2 - 1 2411 c.1897G>A c.(1897-1899)GGA>AGA p.G633R NM_003749 NP_003740 Q9Y4H2 IRS2_HUMAN insulin receptor substrate 2 633 fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus cytosol|plasma membrane insulin receptor binding|signal transducer activity large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1) 8 all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155) Breast(118;0.159) all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147) TCGATGTCTCCGTAGTCCTCT 0.711 NaN 0 0 0 0.047766 0 5 5 HOMEZ 57594 broad.mit.edu 37 14 23746018 23746018 + Missense_Mutation SNP G G T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr14:23746018G>T uc001wja.2 - 2 567 c.419C>A c.(418-420)TCT>TAT p.S140Y HOMEZ_uc001wjb.2_Missense_Mutation_p.S142Y NM_020834 NP_065885 Q8IX15 HOMEZ_HUMAN homeodomain leucine zipper protein 140 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(95;5.54e-06) GBM - Glioblastoma multiforme(265;0.00643) ATGAGTAAAAGAGAGAAGGGA 0.537 NaN 1 0 1.58521e-26 0.080422 1.80253e-26 34 89 TGM1 7051 broad.mit.edu 37 14 24731538 24731538 + Silent SNP G G A rs150913268 by1000genomes TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr14:24731538G>A uc001wod.2 - 2 145 c.21C>T c.(19-21)TCC>TCT p.S7S TGM1_uc010tog.1_5'UTR NM_000359 NP_000350 P22735 TGM1_HUMAN transglutaminase 1 7 Membrane anchorage region. cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) GGCCCACATCGGAACGTGGCC 0.632 NaN 0 0 0 0.146539 0 15 47 GNPNAT1 64841 broad.mit.edu 37 14 53251332 53251332 + Missense_Mutation SNP G G C TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr14:53251332G>C uc001xab.2 - 2 292 c.37C>G c.(37-39)CTA>GTA p.L13V NM_198066 NP_932332 Q96EK6 GNA1_HUMAN glucosamine-phosphate N-acetyltransferase 1 13 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol|endosome membrane|Golgi membrane glucosamine 6-phosphate N-acetyltransferase activity 0 Breast(41;0.176) TCTTTGAGTAGACTTGGGTCA 0.363 NaN 0 0 0 0.038395 0 13 18 SMOC1 64093 broad.mit.edu 37 14 70418941 70418941 + Silent SNP C C A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr14:70418941C>A uc001xls.1 + 2 439 c.186C>A c.(184-186)TCC>TCA p.S62S SMOC1_uc001xlt.1_Silent_p.S62S NM_022137 NP_071420 Q9H4F8 SMOC1_HUMAN secreted modular calcium-binding protein 1 62 Kazal-like. cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding upper_aerodigestive_tract(1)|pancreas(1) 2 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) ATGGCAGGTCCTACGAGTCCA 0.562 NaN 1 0 9.62906e-15 0.086207 1.07754e-14 32 75 ADAM20 8748 broad.mit.edu 37 14 70991613 70991613 + Silent SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr14:70991613G>A uc001xme.2 - 2 257 c.12C>T c.(10-12)CTC>CTT p.L4L NM_003814 NP_003805 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 preproprotein Error:Variant_position_missing_in_O43506_after_alignment proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) TGTCCTGGTGGAGCTGGACCA 0.522 NaN 0 0 0 0.139131 0 67 46 MTA1 9112 broad.mit.edu 37 14 105936438 105936438 + Missense_Mutation SNP G G C TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr14:105936438G>C uc001yqx.2 + 21 2221 c.2034G>C c.(2032-2034)AAG>AAC p.K678N MTA1_uc001yqy.2_RNA|MTA1_uc001yrb.2_Missense_Mutation_p.K443N|CRIP2_uc010tyr.1_5'Flank|CRIP2_uc001yrc.2_5'Flank NM_004689 NP_004680 Q13330 MTA1_HUMAN metastasis associated protein 678 signal transduction cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1) 2 all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.19) CGGAAACCAAGCGTGCTGCCC 0.716 NaN 0 0 0 0.116897 0 21 48 HERC2 8924 broad.mit.edu 37 15 28458889 28458889 + Missense_Mutation SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr15:28458889G>A uc001zbj.2 - 42 6891 c.6785C>T c.(6784-6786)CCA>CTA p.P2262L NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 2262 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TTCACCTACTGGTTTCAGCTG 0.478 NaN 0 0 0 0.146539 0 14 22 MYO5A 4644 broad.mit.edu 37 15 52632551 52632551 + Missense_Mutation SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr15:52632551C>T uc002aby.2 - 32 4325 c.4081G>A c.(4081-4083)GAG>AAG p.E1361K MYO5A_uc002abx.3_Missense_Mutation_p.E1334K|MYO5A_uc010ugd.1_Missense_Mutation_p.E83K|MYO5A_uc002abz.1_RNA|MYO5A_uc002aca.1_Missense_Mutation_p.E113K|MYO5A_uc002acb.1_Missense_Mutation_p.E86K|MYO5A_uc002acc.1_Missense_Mutation_p.E110K NM_000259 NP_000250 Q9Y4I1 MYO5A_HUMAN myosin VA isoform 1 1361 Potential. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|central_nervous_system(1) 4 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) GCCTCATTCTCATGGCTCCTC 0.632 NaN 0 0 0 0.139131 0 55 411 CACNG3 10368 broad.mit.edu 37 16 24268126 24268126 + Silent SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr16:24268126C>T uc002dmf.2 + 1 1251 c.51C>T c.(49-51)GCC>GCT p.A17A NM_006539 NP_006530 O60359 CCG3_HUMAN voltage-dependent calcium channel gamma-3 17 Helical; (Potential). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity 0 GBM - Glioblastoma multiforme(48;0.0809) CTGTAGGAGCCTTTGCCGCTT 0.473 NaN 0 0 0 0.043863 0 17 801 SEZ6L2 26470 broad.mit.edu 37 16 29883848 29883848 + Splice_Site SNP C C G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr16:29883848C>G uc002duq.3 - 15 2729 c.2489_splice c.e15-1 p.V830_splice uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Splice_Site_p.V773_splice|SEZ6L2_uc002dur.3_Splice_Site_p.V760_splice|SEZ6L2_uc002dus.3_Splice_Site_p.V729_splice|SEZ6L2_uc010vec.1_Splice_Site_p.V843_splice|SEZ6L2_uc010ved.1_Splice_Site_p.V799_splice NM_201575 NP_963869 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 isoform endoplasmic reticulum membrane|integral to membrane|plasma membrane ovary(1)|skin(1) 2 GTCTGGGTCACTACAGGAGGA 0.657 NaN 0 0 0 0.062417 0 15 64 DOC2A 8448 broad.mit.edu 37 16 30018508 30018508 + Missense_Mutation SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr16:30018508C>T uc002dvm.2 - 6 740 c.640G>A c.(640-642)GAG>AAG p.E214K uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|DOC2A_uc002dvl.2_Missense_Mutation_p.E214K|DOC2A_uc002dvn.2_Missense_Mutation_p.E214K|DOC2A_uc010vef.1_RNA|DOC2A_uc002dvo.2_Missense_Mutation_p.E214K|DOC2A_uc002dvp.2_Missense_Mutation_p.E214K|DOC2A_uc002dvq.2_Missense_Mutation_p.E214K NM_003586 NP_003577 Q14183 DOC2A_HUMAN double C2-like domains, alpha 214 nervous system development|regulation of calcium ion-dependent exocytosis cell junction|lysosome|synaptic vesicle membrane|synaptosome calcium-dependent phospholipid binding|protein binding|transporter activity ovary(2) 2 ACCTGGCGCTCGAGGCAGATG 0.627 NaN 0 0 0 0.09319 0 9 229 ZNF768 79724 broad.mit.edu 37 16 30536523 30536523 + Missense_Mutation SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr16:30536523C>T uc002dyk.3 - 2 1114 c.938G>A c.(937-939)GGC>GAC p.G313D ZNF768_uc010vex.1_Missense_Mutation_p.G282D|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Missense_Mutation_p.G282D NM_024671 NP_078947 Q9H5H4 ZN768_HUMAN zinc finger protein 768 313 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|zinc ion binding 0 GGGCCGCTCGCCAGTGTGGGT 0.607 NaN 0 0 0 0.038395 0 14 49 ZNF768 79724 broad.mit.edu 37 16 30537018 30537018 + Missense_Mutation SNP C C A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr16:30537018C>A uc002dyk.3 - 2 619 c.443G>T c.(442-444)AGA>ATA p.R148I ZNF768_uc010vex.1_Missense_Mutation_p.R117I|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Missense_Mutation_p.R117I NM_024671 NP_078947 Q9H5H4 ZN768_HUMAN zinc finger protein 768 148 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|zinc ion binding 0 GGATTCATATCTAGAGCTCTC 0.527 NaN 1 0 8.10497e-08 0.055883 8.72367e-08 22 77 ZNF768 79724 broad.mit.edu 37 16 30537349 30537349 + Missense_Mutation SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr16:30537349C>T uc002dyk.3 - 2 288 c.112G>A c.(112-114)GAG>AAG p.E38K ZNF768_uc010vex.1_Missense_Mutation_p.E7K|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Missense_Mutation_p.E7K NM_024671 NP_078947 Q9H5H4 ZN768_HUMAN zinc finger protein 768 38 Poly-Glu. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|zinc ion binding 0 gaaatttcctctTCCTCATTC 0.408 NaN 0 0 0 0.080422 0 29 139 ZNF747 65988 broad.mit.edu 37 16 30545884 30545884 + Silent SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr16:30545884G>A uc002dyn.2 - 1 311 c.117C>T c.(115-117)TTC>TTT p.F39F ZNF768_uc010vex.1_5'UTR|ZNF747_uc002dyo.1_Silent_p.F39F|ZNF747_uc010vey.1_Silent_p.F39F|uc002dyp.1_5'Flank NM_023931 NP_076420 Q9BV97 ZN747_HUMAN zinc finger protein 747 39 KRAB. regulation of transcription, DNA-dependent intracellular nucleic acid binding 0 CCACGTCGGCGAAGCTCACGG 0.731 NaN 0 0 0 0.047766 0 5 10 ABCC11 85320 broad.mit.edu 37 16 48234386 48234387 + Nonsense_Mutation DNP CC CC TA TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr16:48234386_48234387CC>TA uc002eff.1 - 14 2232_2233 c.1882_1883GG>TA c.(1882-1884)GGA>TAA p.G628* ABCC11_uc002efg.1_Nonsense_Mutation_p.G628*|ABCC11_uc002efh.1_Nonsense_Mutation_p.G628*|ABCC11_uc010vgk.1_RNA NM_033151 NP_149163 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C, member 11 628 ABC transporter 1.|Cytoplasmic (Potential). integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(3)|skin(2)|central_nervous_system(1) 6 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) GCCCCGCTCTCCAATCTGCAGA 0.594 NaN Cerumen_Type 0 0 0 0.115264 0 6 47 CDH13 1012 broad.mit.edu 37 16 83711918 83711918 + Missense_Mutation SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr16:83711918G>A uc002fgx.2 + 10 1510 c.1390G>A c.(1390-1392)GTC>ATC p.V464I CDH13_uc010vns.1_Missense_Mutation_p.V511I|CDH13_uc010vnt.1_Missense_Mutation_p.V210I|CDH13_uc010vnu.1_Missense_Mutation_p.V425I NM_001257 NP_001248 P55290 CAD13_HUMAN cadherin 13 preproprotein 464 Cadherin 3. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) CACAGCCACCGTCCACATCAC 0.577 NaN 0 0 0 0.132662 0 13 69 SGSM2 9905 broad.mit.edu 37 17 2279473 2279473 + Missense_Mutation SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr17:2279473G>A uc002fun.3 + 18 2567 c.2392G>A c.(2392-2394)GAC>AAC p.D798N SGSM2_uc002fum.3_Missense_Mutation_p.D843N|SGSM2_uc010vqw.1_Missense_Mutation_p.D798N|SGSM2_uc002fup.1_5'UTR|SGSM2_uc002fuq.2_5'Flank NM_001098509 NP_001091979 O43147 SGSM2_HUMAN RUN and TBC1 domain containing 1 isoform 2 798 Rab-GAP TBC. intracellular Rab GTPase activator activity 0 Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115) GCACCGCATAGACAAGGATGT 0.607 NaN 0 0 0 0.043863 0 15 76 PLD2 5338 broad.mit.edu 37 17 4718857 4718857 + Silent SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr17:4718857G>A uc002fzc.2 + 13 1361 c.1260G>A c.(1258-1260)CTG>CTA p.L420L PLD2_uc010vsj.1_Silent_p.L277L|PLD2_uc002fzd.2_Silent_p.L420L NM_002663 NP_002654 O14939 PLD2_HUMAN phospholipase D2 420 cell communication|cytoskeleton organization|small GTPase mediated signal transduction NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 5 Choline(DB00122) AGAGGGCGCTGATGCTGCTGC 0.577 NaN OREG0024105 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.139131 0 47 165 RPAIN 84268 broad.mit.edu 37 17 5331461 5331461 + Missense_Mutation SNP G G T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr17:5331461G>T uc002gbq.2 + 6 1130 c.560G>T c.(559-561)TGT>TTT p.C187F RPAIN_uc010vsz.1_Missense_Mutation_p.C187F|RPAIN_uc002gbp.1_Missense_Mutation_p.C203F|RPAIN_uc010vta.1_3'UTR|RPAIN_uc010vtb.1_Intron|RPAIN_uc002gbs.2_Missense_Mutation_p.C203F|RPAIN_uc002gbt.2_Intron|RPAIN_uc002gbu.2_Intron|RPAIN_uc002gbv.2_RNA|RPAIN_uc002gbr.2_RNA|RPAIN_uc002gbw.2_Intron|RPAIN_uc002gbx.1_5'Flank NM_001033002 NP_001028174 Q86UA6 RIP_HUMAN RPA interacting protein isoform b 187 RIP-type. DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV cytoplasm|cytoplasm|nucleolus|PML body|PML body metal ion binding|protein complex binding 0 AGTGCACATTGTCCCCACACA 0.463 NaN 1 0 6.3237e-29 0.139131 7.24912e-29 48 53 TP53 7157 broad.mit.edu 37 17 7578454 7578454 + Missense_Mutation SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr17:7578454G>A uc002gim.2 - 5 670 c.476C>T c.(475-477)GCC>GTC p.A159V TP53_uc002gig.1_Missense_Mutation_p.A159V|TP53_uc002gih.2_Missense_Mutation_p.A159V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.A27V|TP53_uc010cng.1_Missense_Mutation_p.A27V|TP53_uc002gii.1_Missense_Mutation_p.A27V|TP53_uc010cnh.1_Missense_Mutation_p.A159V|TP53_uc010cni.1_Missense_Mutation_p.A159V|TP53_uc002gij.2_Missense_Mutation_p.A159V|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.A66V|TP53_uc002gio.2_Missense_Mutation_p.A27V|TP53_uc010vug.1_Missense_Mutation_p.A120V NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 159 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). A -> G (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> D (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.A159V(30)|p.A159P(13)|p.A159A(8)|p.A159T(7)|p.A159D(7)|p.0?(7)|p.A159fs*11(5)|p.A159S(4)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.A159fs*21(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(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) GATGGCCATGGCGCGGACGCG 0.627 111 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 0.139131 0 48 8 FLII 2314 broad.mit.edu 37 17 18155374 18155374 + Silent SNP C C T rs145214604 TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr17:18155374C>T uc002gsr.1 - 11 1236 c.1185G>A c.(1183-1185)TCG>TCA p.S395S FLII_uc002gsq.1_Silent_p.S267S|FLII_uc010cpy.1_Silent_p.S384S|FLII_uc010vxn.1_Silent_p.S364S|FLII_uc010vxo.1_Silent_p.S341S|FLII_uc002gss.1_Silent_p.S395S NM_002018 NP_002009 Q13045 FLII_HUMAN flightless I homolog 395 Interaction with LRRFIP1 and LRRFIP2. multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(1)|skin(1) 2 all_neural(463;0.228) GGTTCTGCAGCGAGAAGTCGA 0.652 NaN 0 0 0 0.139131 0 43 43 SLFN13 146857 broad.mit.edu 37 17 33769022 33769022 + Silent SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr17:33769022C>T uc002hjk.1 - 3 1812 c.1482G>A c.(1480-1482)TTG>TTA p.L494L SLFN13_uc010wch.1_Silent_p.L494L|SLFN13_uc002hjl.2_Silent_p.L494L|SLFN13_uc010ctt.2_Silent_p.L176L|SLFN13_uc002hjm.2_Silent_p.L163L NM_144682 NP_653283 Q68D06 SLN13_HUMAN schlafen family member 13 494 intracellular ATP binding ovary(1)|breast(1) 2 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) GCTTCTGCTTCAAAGTAAAGG 0.582 NaN 0 0 0 0.069234 0 5 67 ITGA3 3675 broad.mit.edu 37 17 48155574 48155574 + Silent SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr17:48155574G>A uc010dbl.2 + 18 2687 c.2223G>A c.(2221-2223)TCG>TCA p.S741S ITGA3_uc010dbm.2_Silent_p.S741S NM_002204 NP_002195 P26006 ITA3_HUMAN integrin alpha 3 isoform a precursor 741 Extracellular (Potential). blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity ovary(2)|pancreas(1) 3 TCCCAAGGTCGAGTCACCAGG 0.572 NaN 0 0 0 0.021553 0 5 87 TEX2 55852 broad.mit.edu 37 17 62230483 62230483 + Missense_Mutation SNP T T G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr17:62230483T>G uc002jec.2 - 10 3135 c.2962A>C c.(2962-2964)ATG>CTG p.M988L TEX2_uc002jed.2_Missense_Mutation_p.M995L|TEX2_uc002jee.2_Missense_Mutation_p.M988L NM_018469 NP_060939 Q8IWB9 TEX2_HUMAN testis expressed sequence 2 988 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) ACAAACCTCATAATCTTACTT 0.383 NaN 0 0 0 0.038147 0 6 31 BPTF 2186 broad.mit.edu 37 17 65941562 65941562 + Silent SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr17:65941562G>A uc002jgf.2 + 21 6799 c.6738G>A c.(6736-6738)CAG>CAA p.Q2246Q BPTF_uc002jge.2_Silent_p.Q2372Q|BPTF_uc002jgg.2_Silent_p.Q46Q|BPTF_uc002jgh.2_5'Flank NM_182641 NP_872579 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 2372 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding ovary(2)|skin(2) 4 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) TGTCACCCCAGATGCAGGTAC 0.448 NaN 0 0 0 0.064281 0 27 58 UTS2R 2837 broad.mit.edu 37 17 80333364 80333364 + Silent SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr17:80333364G>A uc010wvl.1 + 1 1164 c.1164G>A c.(1162-1164)CCG>CCA p.P388P NM_018949 NP_061822 Q9UKP6 UR2R_HUMAN urotensin 2 receptor 388 Cytoplasmic (Potential). integral to membrane|plasma membrane breast(1) 1 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833) CCAGGGCCCCGGCGTGAGCAC 0.761 NaN 0 0 0 0.021553 0 5 8 RAB12 201475 broad.mit.edu 37 18 8624998 8624998 + Splice_Site SNP T T C TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr18:8624998T>C uc002knp.2 + 2 570 c.287_splice c.e2+2 p.W96_splice NM_001025300 NP_001020471 Q6IQ22 RAB12_HUMAN RAB12, member RAS oncogene family protein transport|small GTPase mediated signal transduction Golgi membrane GTP binding 0 ACAGATCTGGTAAGTGGGAGA 0.358 NaN 0 0 0 0.139131 0 45 96 CD209 30835 broad.mit.edu 37 19 7810561 7810561 + Silent SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr19:7810561G>A uc002mht.2 - 4 658 c.591C>T c.(589-591)ACC>ACT p.T197T CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Silent_p.T173T|CD209_uc002mhr.2_Silent_p.T173T|CD209_uc002mhs.2_Silent_p.T173T|CD209_uc002mhu.2_Intron|CD209_uc010dvq.2_Silent_p.T197T|CD209_uc002mhq.2_Silent_p.T197T|CD209_uc002mhv.2_Silent_p.T173T|CD209_uc002mhx.2_Silent_p.T153T|CD209_uc002mhw.2_Intron|CD209_uc010dvr.2_Intron NM_021155 NP_066978 Q9NNX6 CD209_HUMAN CD209 molecule isoform 1 197 Extracellular (Probable).|5.|7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding skin(1) 1 CCTTCAGCCGGGTCAGCTCCT 0.567 NaN 0 0 0 0.02938 0 5 174 CD209 30835 broad.mit.edu 37 19 7810767 7810767 + Missense_Mutation SNP G G A rs146082308 TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr19:7810767G>A uc002mht.2 - 4 452 c.385C>T c.(385-387)CGG>TGG p.R129W CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Missense_Mutation_p.R105W|CD209_uc002mhr.2_Missense_Mutation_p.R105W|CD209_uc002mhs.2_Missense_Mutation_p.R105W|CD209_uc002mhu.2_Missense_Mutation_p.R129W|CD209_uc010dvq.2_Missense_Mutation_p.R129W|CD209_uc002mhq.2_Missense_Mutation_p.R129W|CD209_uc002mhv.2_Missense_Mutation_p.R105W|CD209_uc002mhx.2_Missense_Mutation_p.R85W|CD209_uc002mhw.2_Missense_Mutation_p.R85W|CD209_uc010dvr.2_Intron NM_021155 NP_066978 Q9NNX6 CD209_HUMAN CD209 molecule isoform 1 129 Extracellular (Probable).|2.|7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding skin(1) 1 GCCTTCAGCCGGGTCAGCTCC 0.567 NaN 0 0 0 0.02938 0 5 292 ICAM5 7087 broad.mit.edu 37 19 10402342 10402342 + Missense_Mutation SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr19:10402342G>A uc002mnu.3 + 3 595 c.530G>A c.(529-531)CGG>CAG p.R177Q ICAM5_uc002mnv.3_Missense_Mutation_p.R52Q NM_003259 NP_003250 Q9UMF0 ICAM5_HUMAN intercellular adhesion molecule 5 precursor 177 Extracellular (Potential).|Ig-like C2-type 2. cell-cell adhesion integral to plasma membrane breast(3) 3 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) CCCCGAGCGCGGGGCGCGGTG 0.736 NaN 0 0 0 0.080935 0 7 23 ZNF878 729747 broad.mit.edu 37 19 12155673 12155673 + Missense_Mutation SNP A A C TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr19:12155673A>C uc002mta.1 - 5 684 c.684T>G c.(682-684)AGT>AGG p.S228R NM_001080404 NP_001073873 C9JN71 ZN878_HUMAN zinc finger protein 878 181 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 AACTGGGAAAACTGAATGCTT 0.403 NaN 0 0 0 0.021553 0 4 158 ZNF799 90576 broad.mit.edu 37 19 12501446 12501446 + Missense_Mutation SNP T T C TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr19:12501446T>C uc010dyt.2 - 4 1916 c.1766A>G c.(1765-1767)GAA>GGA p.E589G ZNF799_uc002mts.3_Intron NM_001080821 NP_001074290 Q96GE5 ZN799_HUMAN zinc finger protein 799 589 C2H2-type 17. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|ovary(2)|skin(1) 6 TTCCTTACATTCATACGGGTT 0.413 NaN 0 0 0 0.115264 0 3 41 KLHL26 55295 broad.mit.edu 37 19 18778894 18778894 + Silent SNP G G A rs150852328 byFrequency TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr19:18778894G>A uc002njz.1 + 3 714 c.687G>A c.(685-687)GCG>GCA p.A229A NM_018316 NP_060786 Q53HC5 KLH26_HUMAN kelch-like 26 229 BACK. ovary(1) 1 TGTTCCGCGCGGCCGTCCGCT 0.582 NaN 0 0 0 0.11911 0 14 22 ZNF208 7757 broad.mit.edu 37 19 22155282 22155282 + Missense_Mutation SNP T T C TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr19:22155282T>C uc002nqp.2 - 5 2403 c.2254A>G c.(2254-2256)AAG>GAG p.K752E ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) TGAATTACCTTATGTTTAGTA 0.373 NaN 0 0 0 0.115264 0 3 58 ZNF91 7644 broad.mit.edu 37 19 23544867 23544867 + Missense_Mutation SNP T T C TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr19:23544867T>C uc002nre.2 - 4 1027 c.914A>G c.(913-915)CAT>CGT p.H305R ZNF91_uc010xrj.1_Missense_Mutation_p.H273R NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 305 C2H2-type 6. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GGTTGAAGAATGGCTAAAAGC 0.413 NaN 0 0 0 0.021553 0 6 151 SLC8A2 6543 broad.mit.edu 37 19 47935695 47935695 + Missense_Mutation SNP C C G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr19:47935695C>G uc002pgx.2 - 9 2396 c.2118G>C c.(2116-2118)GAG>GAC p.E706D SLC8A2_uc010xyq.1_Missense_Mutation_p.E462D|SLC8A2_uc010xyr.1_Missense_Mutation_p.E169D|SLC8A2_uc010ele.2_Missense_Mutation_p.E706D NM_015063 NP_055878 Q9UPR5 NAC2_HUMAN solute carrier family 8 member 2 precursor 706 Cytoplasmic (Potential). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding skin(3)|ovary(1) 4 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CCTCCTCCTCCTCGTCCCCTG 0.602 NaN 0 0 0 0.021553 0 5 144 CPT1C 126129 broad.mit.edu 37 19 50216744 50216744 + Missense_Mutation SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr19:50216744G>A uc002ppj.2 + 19 2499 c.2294G>A c.(2293-2295)GGA>GAA p.G765E CPT1C_uc002ppk.2_Missense_Mutation_p.G754E|CPT1C_uc010eng.2_Missense_Mutation_p.G765E|CPT1C_uc010enh.2_Missense_Mutation_p.G765E|CPT1C_uc010eni.1_Missense_Mutation_p.G333E NM_152359 NP_689572 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C isoform 2 765 Cytoplasmic (Potential). fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) TTCCAGGCGGGACAGCATTTT 0.542 NaN 0 0 0 0.125774 0 23 101 ZNF836 162962 broad.mit.edu 37 19 52659075 52659075 + Missense_Mutation SNP C C A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr19:52659075C>A uc010ydi.1 - 5 2235 c.1861G>T c.(1861-1863)GAC>TAC p.D621Y ZNF836_uc010ydj.1_Missense_Mutation_p.D621Y NM_001102657 NP_001096127 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 621 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTTCCACTGTCATTGAAGACC 0.423 NaN 1 0 3.59834e-05 0.021553 3.84368e-05 4 148 ZNF83 55769 broad.mit.edu 37 19 53116804 53116804 + Silent SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr19:53116804G>A uc002pzu.3 - 2 2258 c.1014C>T c.(1012-1014)ATC>ATT p.I338I ZNF83_uc002pzv.3_Silent_p.I338I|ZNF83_uc010eps.2_Silent_p.I310I|ZNF83_uc010ept.2_Silent_p.I338I|ZNF83_uc010epu.2_Silent_p.I338I|ZNF83_uc010epv.2_Silent_p.I338I|ZNF83_uc010epw.2_Silent_p.I338I|ZNF83_uc010epx.2_Silent_p.I310I|ZNF83_uc010epy.2_Silent_p.I338I|ZNF83_uc010epz.2_Silent_p.I310I NM_018300 NP_060770 P51522 ZNF83_HUMAN zinc finger protein 83 isoform a 338 C2H2-type 9. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) CTCCAGTGTGGATTCTCCAGT 0.413 NaN 0 0 0 0.021553 0 5 205 ZNF347 84671 broad.mit.edu 37 19 53644380 53644380 + Silent SNP T T C TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr19:53644380T>C uc002qbb.1 - 5 1770 c.1701A>G c.(1699-1701)AAA>AAG p.K567K ZNF347_uc010eql.1_Silent_p.K568K|ZNF347_uc002qbc.1_Silent_p.K568K NM_032584 NP_115973 Q96SE7 ZN347_HUMAN zinc finger protein 347 567 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0179) ATTTGTAAGGTTTTTCTCCAG 0.413 NaN 0 0 0 0.02938 0 6 250 ZNF761 388561 broad.mit.edu 37 19 53958826 53958826 + Silent SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr19:53958826G>A uc010eqp.2 + 7 1523 c.1065G>A c.(1063-1065)AAG>AAA p.K355K ZNF761_uc010ydy.1_Silent_p.K301K|ZNF761_uc002qbt.1_Silent_p.K301K NM_001008401 NP_001008401 Q86XN6 ZN761_HUMAN zinc finger protein 761 355 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00786) AACCTTACAAGTGTAATGAGT 0.418 NaN 0 0 0 0.038147 0 6 263 ZNF329 79673 broad.mit.edu 37 19 58639722 58639722 + Silent SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr19:58639722G>A uc002qrn.2 - 4 1386 c.1149C>T c.(1147-1149)AAC>AAT p.N383N ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA NM_024620 NP_078896 Q86UD4 ZN329_HUMAN zinc finger protein 329 383 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216) TGAGGTGAGAGTTTCTGTTGA 0.498 NaN 0 0 0 0.09836 0 35 102 GPAT2 150763 broad.mit.edu 37 2 96698049 96698049 + Missense_Mutation SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr2:96698049C>T uc002svf.2 - 2 282 c.59G>A c.(58-60)CGA>CAA p.R20Q GPAT2_uc002svg.2_5'UTR|GPAT2_uc010yuh.1_Missense_Mutation_p.R20Q|GPAT2_uc002svh.2_Missense_Mutation_p.R20Q NM_207328 NP_997211 Q6NUI2 GPAT2_HUMAN glycerol-3-phosphate acyltransferase 2, 20 glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity 0 CATTACCTCTCGGCCACTGGG 0.572 NaN 0 0 0 0.058154 0 6 44 IL18R1 8809 broad.mit.edu 37 2 103013325 103013325 + Silent SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr2:103013325G>A uc002tbw.3 + 11 1755 c.1605G>A c.(1603-1605)TTG>TTA p.L535L IL18R1_uc010ywc.1_Silent_p.L534L|IL18R1_uc010ywd.1_Silent_p.L379L|IL18R1_uc010fiy.2_Silent_p.L535L NM_003855 NP_003846 Q13478 IL18R_HUMAN interleukin 18 receptor 1 precursor 535 Cytoplasmic (Potential). innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity ovary(2)|pancreas(1) 3 CGGAAGTCTTGCCTGTTCTTT 0.413 NaN 0 0 0 0.080935 0 9 21 SULT1C4 27233 broad.mit.edu 37 2 108994731 108994731 + Translation_Start_Site SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr2:108994731C>T uc002tea.1 + 1 311 c.-62C>T c.(-64--60)AACGC>AATGC SULT1C4_uc002tdz.2_Translation_Start_Site|SULT1C4_uc010ywr.1_RNA|SULT1C4_uc002teb.1_Translation_Start_Site NM_006588 NP_006579 O75897 ST1C4_HUMAN sulfotransferase family, cytosolic, 1C, member 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol sulfotransferase activity 0 CTATCCACAACGCAGCCATAT 0.488 NaN 0 0 0 0.02938 0 7 29 CHD6 84181 broad.mit.edu 37 20 40049547 40049547 + Missense_Mutation SNP C C G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr20:40049547C>G uc002xka.1 - 31 5906 c.5728G>C c.(5728-5730)GAT>CAT p.D1910H NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1910 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) TTGGTTTCATCTTGGAAGCCT 0.517 NaN 0 0 0 0.125774 0 23 42 PREX1 57580 broad.mit.edu 37 20 47266680 47266680 + Missense_Mutation SNP G G A rs41283554 TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr20:47266680G>A uc002xtw.1 - 24 2905 c.2882C>T c.(2881-2883)CCG>CTG p.P961L PREX1_uc002xtv.1_Missense_Mutation_p.P258L NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 961 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) GCCACACAGCGGGTGGGGCTC 0.592 NaN 0 0 0 0.124865 0 33 132 IFNAR2 3455 broad.mit.edu 37 21 34621017 34621017 + Missense_Mutation SNP C C G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr21:34621017C>G uc002yrd.2 + 6 726 c.398C>G c.(397-399)TCT>TGT p.S133C IFNAR2_uc002yrb.2_Missense_Mutation_p.S133C|IFNAR2_uc002yrc.2_Missense_Mutation_p.S133C|IFNAR2_uc002yre.2_Missense_Mutation_p.S133C|IFNAR2_uc002yrf.2_Missense_Mutation_p.S133C|IFNAR2_uc002yrg.2_Missense_Mutation_p.S2C|IL10RB_uc002yrh.1_5'UTR|IL10RB_uc002yri.1_5'UTR NM_207585 NP_997468 P48551 INAR2_HUMAN interferon alpha/beta receptor 2 isoform a 133 Extracellular (Potential). JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway extracellular region|extracellular space|integral to plasma membrane protein kinase binding|type I interferon binding|type I interferon receptor activity 0 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) tGCACAGTGTCTTTTGAACCA 0.194 NaN 0 0 0 0.043863 0 17 80 EDEM1 9695 broad.mit.edu 37 3 5249807 5249807 + Silent SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr3:5249807C>T uc003bqi.2 + 8 1500 c.1368C>T c.(1366-1368)ATC>ATT p.I456I EDEM1_uc011asz.1_Silent_p.I234I|EDEM1_uc003bqh.2_Silent_p.I456I NM_014674 NP_055489 Q92611 EDEM1_HUMAN ER degradation enhancer, mannosidase alpha-like 456 Lumenal (Potential). ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein integral to endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding ovary(2)|breast(1) 3 Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682) AAGATGCCATCTGCCTTCATG 0.512 NaN 0 0 0 0.139131 0 47 93 IRAK2 3656 broad.mit.edu 37 3 10264330 10264330 + Missense_Mutation SNP T T G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr3:10264330T>G uc003bve.1 + 9 1100 c.1024T>G c.(1024-1026)TTG>GTG p.L342V NM_001570 NP_001561 O43187 IRAK2_HUMAN interleukin-1 receptor-associated kinase 2 342 Protein kinase. activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|endosome membrane|plasma membrane ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity lung(5)|breast(3) 8 CTCTAATGTCTTGCTGGACCA 0.453 NaN 0 0 0 0.139131 0 64 259 SEC13 6396 broad.mit.edu 37 3 10342968 10342968 + Missense_Mutation SNP C C G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr3:10342968C>G uc003bvn.2 - 9 1065 c.946G>C c.(946-948)GAG>CAG p.E316Q SEC13_uc003bvl.2_Missense_Mutation_p.E248Q|SEC13_uc003bvm.2_Missense_Mutation_p.E302Q|SEC13_uc003bvp.2_Missense_Mutation_p.E319Q|SEC13_uc003bvo.2_Missense_Mutation_p.E362Q|SEC13_uc003bvq.1_Intron NM_183352 NP_899195 P55735 SEC13_HUMAN SEC13 protein isoform 1 316 COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex protein binding ovary(1) 1 TGCTGGCCCTCTGTCACTGAT 0.607 NaN 0 0 0 0.125774 0 24 236 ZNF860 344787 broad.mit.edu 37 3 32031962 32031962 + Missense_Mutation SNP A A G rs1808125 by1000genomes TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr3:32031962A>G uc011axg.1 + 2 1940 c.1391A>G c.(1390-1392)CAT>CGT p.H464R NM_001137674 NP_001131146 A6NHJ4 ZN860_HUMAN zinc finger protein 860 464 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AAGACCTTCCATCACAATTCA 0.418 NaN 0 0 0 0.021553 0 4 110 PDCD6IP 10015 broad.mit.edu 37 3 33870428 33870428 + Silent SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr3:33870428G>A uc003cfx.2 + 7 956 c.801G>A c.(799-801)CAG>CAA p.Q267Q PDCD6IP_uc003cfy.2_Silent_p.Q272Q|PDCD6IP_uc011axw.1_Silent_p.Q48Q NM_013374 NP_037506 Q8WUM4 PDC6I_HUMAN programmed cell death 6 interacting protein 267 Interaction with EIAV p9.|Interaction with CHMP4A, CHMP4B and CHMP4C.|BRO1. apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport cytosol|melanosome|microtubule organizing center calcium-dependent protein binding ovary(1)|skin(1) 2 CAAAACAGCAGAAGAAATTTG 0.388 NaN 0 0 0 0.0333 0 13 43 COL6A6 131873 broad.mit.edu 37 3 130285707 130285707 + Missense_Mutation SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr3:130285707G>A uc010htl.2 + 4 1475 c.1444G>A c.(1444-1446)GAC>AAC p.D482N NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 482 VWFA 3.|Nonhelical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 TCAGTATGCTGACAGCTGGGA 0.478 NaN 0 0 0 0.059317 0 27 124 ACPL2 92370 broad.mit.edu 37 3 141011518 141011518 + Missense_Mutation SNP A A G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr3:141011518A>G uc003etu.2 + 8 1213 c.914A>G c.(913-915)AAT>AGT p.N305S ACPL2_uc003etv.2_Missense_Mutation_p.N305S|ACPL2_uc011bna.1_Missense_Mutation_p.N267S|ACPL2_uc011bnb.1_Missense_Mutation_p.N288S NM_152282 NP_689495 Q8TE99 ACPL2_HUMAN acid phosphatase-like 2 precursor 305 extracellular region acid phosphatase activity skin(1) 1 TTCTGCCACAATGTCAGCTTT 0.517 NaN 0 0 0 0.105934 0 12 79 LSG1 55341 broad.mit.edu 37 3 194373664 194373664 + Missense_Mutation SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr3:194373664C>T uc003fui.2 - 8 1282 c.967G>A c.(967-969)GAA>AAA p.E323K NM_018385 NP_060855 Q9H089 LSG1_HUMAN large subunit GTPase 1 323 nuclear export|protein transport Cajal body|endoplasmic reticulum GTP binding|hydrolase activity 0 all_cancers(143;1.68e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;7.55e-06) CCGTCTTCTTCTGAGCACGTC 0.527 NaN 0 0 0 0.009096 0 4 70 MUC4 4585 broad.mit.edu 37 3 195512118 195512118 + Silent SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr3:195512118G>A uc011bto.1 - 2 6793 c.6333C>T c.(6331-6333)ACC>ACT p.T2111T MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 886 Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CATGAAGAGCGGTGGCGTGAC 0.572 NaN 0 0 0 0.115264 0 3 5 BMP2K 55589 broad.mit.edu 37 4 79832995 79832995 + Silent SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr4:79832995C>T uc003hlk.2 + 16 3460 c.3294C>T c.(3292-3294)GTC>GTT p.V1098V PAQR3_uc003hlm.2_Intron|PAQR3_uc003hln.2_Intron|uc010ijm.1_5'Flank NM_198892 NP_942595 Q9NSY1 BMP2K_HUMAN BMP-2 inducible kinase isoform a 1098 nucleus ATP binding|protein serine/threonine kinase activity lung(1) 1 ACAATACTGTCCTGCCAGGGC 0.517 NaN 0 0 0 0.02938 0 5 46 HNRPDL 9987 broad.mit.edu 37 4 83348369 83348369 + Missense_Mutation SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr4:83348369C>T uc003hmr.2 - 5 1530 c.995G>A c.(994-996)CGA>CAA p.R332Q HNRPDL_uc003hmq.2_RNA|HNRPDL_uc003hms.2_RNA|HNRPDL_uc003hmt.2_Missense_Mutation_p.R332Q NM_031372 NP_112740 O14979 HNRDL_HUMAN heterogeneous nuclear ribonucleoprotein D-like 332 Gly-rich. regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent cytoplasm|heterogeneous nuclear ribonucleoprotein complex double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding skin(1) 1 Hepatocellular(203;0.114) CGTACCACCTCGTCCACCAGC 0.438 NaN 0 0 0 0.139131 0 66 165 OTUD4 54726 broad.mit.edu 37 4 146059006 146059006 + Missense_Mutation SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr4:146059006G>A uc003ika.3 - 21 2864 c.2726C>T c.(2725-2727)ACT>ATT p.T909I OTUD4_uc003ijz.3_Missense_Mutation_p.T908I NM_001102653 NP_001096123 Q01804 OTUD4_HUMAN OTU domain containing 4 protein isoform 3 973 protein binding ovary(2)|breast(1) 3 all_hematologic(180;0.151) AACAGGCACAGTTTCTCTCTC 0.463 NaN 0 0 0 0.09319 0 10 71 OTUD4 54726 broad.mit.edu 37 4 146059041 146059041 + Silent SNP A A G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr4:146059041A>G uc003ika.3 - 21 2829 c.2691T>C c.(2689-2691)CAT>CAC p.H897H OTUD4_uc003ijz.3_Silent_p.H896H NM_001102653 NP_001096123 Q01804 OTUD4_HUMAN OTU domain containing 4 protein isoform 3 961 protein binding ovary(2)|breast(1) 3 all_hematologic(180;0.151) GAGTGGGAGGATGAGCCTTTC 0.478 NaN 0 0 0 0.080935 0 9 86 HCN1 348980 broad.mit.edu 37 5 45262592 45262592 + Missense_Mutation SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr5:45262592C>T uc003jok.2 - 8 2129 c.2104G>A c.(2104-2106)GCG>ACG p.A702T NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 702 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 CTGCAGACCGCGGTGGTGTAG 0.592 NaN 0 0 0 0.0333 0 15 4 DDX4 54514 broad.mit.edu 37 5 55088541 55088541 + Missense_Mutation SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr5:55088541G>A uc003jqg.3 + 17 1449 c.1375G>A c.(1375-1377)GAA>AAA p.E459K DDX4_uc010ivz.2_Missense_Mutation_p.E439K|DDX4_uc003jqh.3_Missense_Mutation_p.E425K|DDX4_uc003jqj.2_Missense_Mutation_p.E310K NM_001136034 NP_001129506 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform 459 Helicase ATP-binding. multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|skin(1) 2 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) TTTTGGTCCAGAAATGAAGAA 0.378 NaN 0 0 0 0.062417 0 16 24 DDX4 54514 broad.mit.edu 37 5 55094390 55094390 + Missense_Mutation SNP C C G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr5:55094390C>G uc003jqg.3 + 18 1680 c.1606C>G c.(1606-1608)CGA>GGA p.R536G DDX4_uc010ivz.2_Missense_Mutation_p.R516G|DDX4_uc003jqh.3_Missense_Mutation_p.R502G|DDX4_uc003jqj.2_Missense_Mutation_p.R387G NM_001136034 NP_001129506 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform 536 Helicase C-terminal. multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|skin(1) 2 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) TGAAATTCTGCGAAACATAGG 0.343 NaN 0 0 0 0.105934 0 12 18 ADAMTS6 11174 broad.mit.edu 37 5 64756014 64756014 + Missense_Mutation SNP G G C TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr5:64756014G>C uc003jtp.2 - 4 1428 c.614C>G c.(613-615)TCT>TGT p.S205C ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_5'UTR NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 205 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) CCCACAATGAGAGTGATCATA 0.408 NaN 0 0 0 0.144211 0 24 29 DMGDH 29958 broad.mit.edu 37 5 78294073 78294073 + Missense_Mutation SNP C C G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr5:78294073C>G uc003kfs.2 - 16 2439 c.2433G>C c.(2431-2433)AAG>AAC p.K811N NM_013391 NP_037523 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase precursor 811 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity ovary(2)|liver(1)|skin(1) 4 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) AAGCCAGACTCTTCTGGATGC 0.473 NaN 0 0 0 0.02938 0 7 11 TSSK1B 83942 broad.mit.edu 37 5 112769745 112769745 + Silent SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr5:112769745G>A uc003kqm.2 - 1 984 c.792C>T c.(790-792)GAC>GAT p.D264D MCC_uc003kql.3_Intron NM_032028 NP_114417 Q9BXA7 TSSK1_HUMAN testis-specific serine kinase 1 264 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(2)|skin(2)|stomach(1) 5 all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156) Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449) TGAGGATCTCGTCGATGTGGA 0.617 NaN 0 0 0 0.014758 0 4 32 PCDHA2 56146 broad.mit.edu 37 5 140175132 140175132 + Missense_Mutation SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr5:140175132G>A uc003lhd.2 + 1 689 c.583G>A c.(583-585)GTG>ATG p.V195M PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.V195M|PCDHA2_uc011czy.1_Missense_Mutation_p.V195M NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 195 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTGTCTCTCGTGCTGGGGAA 0.463 NaN 0 0 0 0.116897 0 24 34 PCDHGA9 56107 broad.mit.edu 37 5 140784367 140784367 + Silent SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr5:140784367C>T uc003lkh.1 + 1 1848 c.1848C>T c.(1846-1848)CTC>CTT p.L616L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Silent_p.L616L NM_018921 NP_061744 Q9Y5G4 PCDG9_HUMAN protocadherin gamma subfamily A, 9 isoform 1 616 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCCAGGGCTCTTCTCGGTGG 0.597 NaN 0 0 0 0.076483 0 21 20 TCOF1 6949 broad.mit.edu 37 5 149755460 149755460 + Missense_Mutation SNP G G C TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr5:149755460G>C uc003lry.2 + 12 1989 c.1881G>C c.(1879-1881)ATG>ATC p.M627I TCOF1_uc003lrw.2_Missense_Mutation_p.M627I|TCOF1_uc011dch.1_Missense_Mutation_p.M627I|TCOF1_uc003lrz.2_Missense_Mutation_p.M627I|TCOF1_uc003lrx.2_Missense_Mutation_p.M550I|TCOF1_uc003lsa.2_Missense_Mutation_p.M550I|TCOF1_uc011dci.1_Missense_Mutation_p.M116I NM_001135243 NP_001128715 Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 627 skeletal system development nucleolus protein binding|transporter activity ovary(2)|large_intestine(1) 3 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAGCAGCCATGACTGCAGCTC 0.627 NaN 0 0 0 0.058154 0 7 18 NHLRC1 378884 broad.mit.edu 37 6 18121856 18121856 + Missense_Mutation SNP C C G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr6:18121856C>G uc003ncl.1 - 1 996 c.982G>C c.(982-984)GAT>CAT p.D328H NM_198586 NP_940988 Q6VVB1 NHLC1_HUMAN NHL repeat containing 1 328 NHL 5. proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination endoplasmic reticulum|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 Ovarian(93;0.016)|Breast(50;0.0245) all_hematologic(90;0.165) all cancers(50;0.0451)|Epithelial(50;0.0493) CCCTGGTGATCAAAGGTCACA 0.483 NaN 0 0 0 0.139131 0 61 76 NHLRC1 378884 broad.mit.edu 37 6 18122765 18122765 + Nonsense_Mutation SNP C C A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr6:18122765C>A uc003ncl.1 - 1 87 c.73G>T c.(73-75)GAG>TAG p.E25* NM_198586 NP_940988 Q6VVB1 NHLC1_HUMAN NHL repeat containing 1 25 proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination endoplasmic reticulum|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 Ovarian(93;0.016)|Breast(50;0.0245) all_hematologic(90;0.165) all cancers(50;0.0451)|Epithelial(50;0.0493) ACCTTGCACTCGAGCAGGCTG 0.711 NaN 1 0 9.39395e-14 0.116897 1.0348e-13 22 40 NHLRC1 378884 broad.mit.edu 37 6 18122786 18122786 + Missense_Mutation SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr6:18122786C>T uc003ncl.1 - 1 66 c.52G>A c.(52-54)GAG>AAG p.E18K NM_198586 NP_940988 Q6VVB1 NHLC1_HUMAN NHL repeat containing 1 18 proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination endoplasmic reticulum|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 Ovarian(93;0.016)|Breast(50;0.0245) all_hematologic(90;0.165) all cancers(50;0.0451)|Epithelial(50;0.0493) ATCTCCGCCTCGCGCATGAGC 0.711 NaN 0 0 0 0.083992 0 18 33 CPVL 54504 broad.mit.edu 37 7 29070210 29070210 + Missense_Mutation SNP C C G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr7:29070210C>G uc003szv.2 - 12 1422 c.1303G>C c.(1303-1305)GCG>CCG p.A435P CPVL_uc003szw.2_Missense_Mutation_p.A435P|CPVL_uc003szx.2_Missense_Mutation_p.A435P NM_031311 NP_112601 Q9H3G5 CPVL_HUMAN serine carboxypeptidase vitellogenic-like 435 proteolysis protein binding|serine-type carboxypeptidase activity ovary(2) 2 AAGTCACCCGCTTGCCGGATG 0.478 NaN 0 0 0 0.139131 0 167 185 NOD1 10392 broad.mit.edu 37 7 30485764 30485764 + Missense_Mutation SNP C C G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr7:30485764C>G uc003tav.2 - 9 2969 c.2446G>C c.(2446-2448)GAG>CAG p.E816Q NM_006092 NP_006083 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain 816 activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity ovary(1)|skin(1) 2 CACCCAACCTCAGAGATTGAT 0.488 NaN 0 0 0 0.074837 0 29 398 AOAH 313 broad.mit.edu 37 7 36657936 36657936 + Missense_Mutation SNP C C G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr7:36657936C>G uc003tfh.3 - 10 1119 c.718G>C c.(718-720)GAT>CAT p.D240H AOAH_uc010kxf.2_Missense_Mutation_p.D240H|AOAH_uc011kba.1_Missense_Mutation_p.D208H NM_001637 NP_001628 P28039 AOAH_HUMAN acyloxyacyl hydrolase precursor 240 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity skin(1) 1 GGAACTCCATCTTTTGGATCG 0.308 NaN 0 0 0 0.09319 0 10 71 ZNF92 168374 broad.mit.edu 37 7 64863839 64863840 + Missense_Mutation DNP CC CC AT TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr7:64863839_64863840CC>AT uc003ttz.2 + 4 955_956 c.812_813CC>AT c.(811-813)ACC>AAT p.T271N ZNF92_uc003tua.2_Missense_Mutation_p.T202N|ZNF92_uc010kzu.2_Missense_Mutation_p.T239N|ZNF92_uc003tub.2_Missense_Mutation_p.T195N NM_152626 NP_689839 Q03936 ZNF92_HUMAN zinc finger protein 92 isoform 2 271 C2H2-type 5. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Lung NSC(55;0.159) CGGTCCTCAACCCTTACTAAAC 0.351 NaN 0 0 0 0.115264 0 3 53 CYP3A7 1551 broad.mit.edu 37 7 99308460 99308460 + Nonsense_Mutation SNP A A C TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr7:99308460A>C uc003uru.2 - 10 1026 c.921T>G c.(919-921)TAT>TAG p.Y307* ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron NM_000765 NP_000756 P24462 CP3A7_HUMAN cytochrome P450, family 3, subfamily A, 307 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1) 1 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) TCGTGGTTTCATAGCCAGCAA 0.413 NaN 0 0 0 0.108266 0 24 40 MUC17 140453 broad.mit.edu 37 7 100682156 100682156 + Missense_Mutation SNP A A G rs139444589 byFrequency TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr7:100682156A>G uc003uxp.1 + 3 7512 c.7459A>G c.(7459-7461)ATG>GTG p.M2487V MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2487 Extracellular (Potential).|40.|59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CAGCACACCTATGACCACTTC 0.493 NaN 0 0 0 0.132662 0 6 428 MUC17 140453 broad.mit.edu 37 7 100682158 100682158 + Missense_Mutation SNP G G C rs147944556 TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr7:100682158G>C uc003uxp.1 + 3 7514 c.7461G>C c.(7459-7461)ATG>ATC p.M2487I MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2487 Extracellular (Potential).|40.|59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) GCACACCTATGACCACTTCTA 0.493 NaN 0 0 0 0.132662 0 6 416 CAV2 858 broad.mit.edu 37 7 116139888 116139888 + Missense_Mutation SNP C C G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr7:116139888C>G uc003vid.2 + 1 445 c.53C>G c.(52-54)TCC>TGC p.S18C CAV2_uc003vhv.2_Intron|CAV2_uc003vhw.2_Intron|CAV2_uc003vhx.2_Intron|CAV2_uc010lkb.1_Intron|CAV2_uc010lkc.2_Intron|CAV2_uc003vib.2_Intron|CAV2_uc003vhz.2_Intron|CAV2_uc003via.2_Intron|CAV1_uc010lkd.1_Intron|CAV1_uc010lke.1_Intron|CAV2_uc003vie.2_Missense_Mutation_p.S18C NM_001233 NP_001224 P51636 CAV2_HUMAN caveolin 2 isoform a and b 18 Cytoplasmic (Potential). caveola assembly|endoplasmic reticulum organization|mitochondrion organization|negative regulation of endothelial cell proliferation|positive regulation of dopamine receptor signaling pathway|regulation of mitosis|skeletal muscle fiber development|vesicle docking|vesicle fusion caveola|extrinsic to internal side of plasma membrane|Golgi membrane|integral to plasma membrane|membrane fraction|nucleus|perinuclear region of cytoplasm|transport vesicle D1 dopamine receptor binding|protein homodimerization activity 0 all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642) STAD - Stomach adenocarcinoma(10;0.00878) GACGACGACTCCTACAGCCAC 0.682 NaN 0 0 0 0.115264 0 2 2 RP1L1 94137 broad.mit.edu 37 8 10466059 10466059 + Missense_Mutation SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr8:10466059C>T uc003wtc.2 - 4 5778 c.5549G>A c.(5548-5550)GGT>GAT p.G1850D NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1850 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) GGCCTCTACACCTTCTGACTC 0.642 NaN 0 0 0 0.02938 0 6 197 ZNF395 55893 broad.mit.edu 37 8 28210752 28210752 + Missense_Mutation SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr8:28210752G>A uc003xgq.2 - 5 845 c.757C>T c.(757-759)CAT>TAT p.H253Y ZNF395_uc003xgt.2_Missense_Mutation_p.H253Y|ZNF395_uc003xgr.2_Missense_Mutation_p.H253Y|ZNF395_uc003xgs.2_Missense_Mutation_p.H253Y NM_018660 NP_061130 Q9H8N7 ZN395_HUMAN zinc finger protein 395 253 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding 0 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) TCAAAGCCATGATCAGTTTGG 0.587 NaN 0 0 0 0.045705 0 23 21 ENPP2 5168 broad.mit.edu 37 8 120598469 120598469 + Missense_Mutation SNP C C G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr8:120598469C>G uc003yot.1 - 15 1410 c.1324G>C c.(1324-1326)GAG>CAG p.E442Q ENPP2_uc011lic.1_5'Flank|ENPP2_uc003yor.1_Missense_Mutation_p.E81Q|ENPP2_uc003yos.1_Missense_Mutation_p.E494Q|ENPP2_uc010mdd.1_Missense_Mutation_p.E442Q NM_001040092 NP_001035181 Q13822 ENPP2_HUMAN autotaxin isoform 2 preproprotein 442 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) TGGATATCCTCAATTCTTCTG 0.413 NaN 0 0 0 0.108266 0 25 60 KIAA0368 23392 broad.mit.edu 37 9 114206748 114206748 + Missense_Mutation SNP A A C TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr9:114206748A>C uc004bfe.1 - 5 714 c.714T>G c.(712-714)AAT>AAG p.N238K KIAA0368_uc010muc.1_Missense_Mutation_p.N60K NM_001080398 NP_001073867 KIAA0368 protein 0 TTATACGTTTATTCAGATGGA 0.388 NaN 0 0 0 0.080935 0 9 35 C5 727 broad.mit.edu 37 9 123742496 123742496 + Missense_Mutation SNP G G T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr9:123742496G>T uc004bkv.2 - 28 3553 c.3523C>A c.(3523-3525)CTG>ATG p.L1175M NM_001735 NP_001726 P01031 CO5_HUMAN complement component 5 preproprotein 1175 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) TTTTCAAGCAGAAAGTTGTCA 0.408 NaN 1 0 1.04858e-14 0.058154 1.16417e-14 7 50 ZNF79 7633 broad.mit.edu 37 9 130207140 130207140 + Silent SNP A A G TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr9:130207140A>G uc004bqw.3 + 5 1575 c.1161A>G c.(1159-1161)AAA>AAG p.K387K ZNF79_uc011maf.1_Silent_p.K363K|ZNF79_uc011mag.1_Silent_p.K363K NM_007135 NP_009066 Q15937 ZNF79_HUMAN zinc finger protein 79 387 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 CTGGGGAGAAACCCTACAAGT 0.532 NaN 0 0 0 0.02938 0 3 72 C9orf119 375757 broad.mit.edu 37 9 131038427 131038427 + Missense_Mutation SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr9:131038427G>A uc004bup.2 + 1 3 c.3G>A c.(1-3)ATG>ATA p.M1I GOLGA2_uc011maw.1_5'Flank|GOLGA2_uc010mxw.2_5'Flank|GOLGA2_uc004bul.1_5'Flank|C9orf119_uc010mxx.1_Missense_Mutation_p.M1I NM_001040011 NP_001035100 Q1ZZU3 SWI5_HUMAN hypothetical protein LOC375757 1 double-strand break repair via homologous recombination Swi5-Sfr1 complex protein binding 0 GCGTGGCTATGCAGCGGCGTG 0.627 NaN 0 0 0 0.139131 0 45 57 WDR34 89891 broad.mit.edu 37 9 131397988 131397988 + Silent SNP C C A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr9:131397988C>A uc004bvq.1 - 5 886 c.762G>T c.(760-762)CTG>CTT p.L254L WDR34_uc004bvs.1_Silent_p.L245L|WDR34_uc004bvr.1_Silent_p.L254L NM_052844 NP_443076 Q96EX3 WDR34_HUMAN WD repeat domain 34 254 WD 1. cytoplasm central_nervous_system(2)|skin(1) 3 TGCGCCACAGCAGCGGGTCCT 0.692 NaN 1 0 0.00909568 0.009096 0.00949993 3 38 WNK3 65267 broad.mit.edu 37 X 54321158 54321158 + Missense_Mutation SNP C C G rs149832313 byFrequency TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chrX:54321158C>G uc004dtd.1 - 8 1960 c.1521G>C c.(1519-1521)AGG>AGC p.R507S WNK3_uc004dtc.1_Missense_Mutation_p.R507S NM_001002838 NP_001002838 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 isoform 2 507 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity lung(4)|ovary(3)|kidney(2)|central_nervous_system(2) 11 ACTGAGAATCCCTGCGTTCTT 0.478 NaN 0 0 0 0.134883 0 27 2 MAGEC1 9947 broad.mit.edu 37 X 140994960 140994960 + Silent SNP G G A TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chrX:140994960G>A uc004fbt.2 + 4 2056 c.1770G>A c.(1768-1770)CTG>CTA p.L590L MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 590 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) AGGACTCCCTGTCTCCTCACT 0.567 NaN HNSCC(15;0.026) 0 0 0 0.02938 0 6 249 SLC5A11 115584 broad.mit.edu 37 16 24921737 24921739 + In_Frame_Del DEL CAG CAG - TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr16:24921737_24921739delCAG uc002dmu.2 + 15 1993_1995 c.1761_1763delCAG c.(1759-1764)GCCAGC>GCC p.S592del SLC5A11_uc002dms.2_In_Frame_Del_p.S528del|SLC5A11_uc010vcd.1_In_Frame_Del_p.S557del|SLC5A11_uc002dmt.2_In_Frame_Del_p.S436del|SLC5A11_uc010vce.1_In_Frame_Del_p.S522del|SLC5A11_uc010bxt.2_In_Frame_Del_p.S528del|SLC5A11_uc002dmv.2_In_Frame_Del_p.S215del NM_052944 NP_443176 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/glucose 592 Cytoplasmic (Potential). apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0365) TGCCAGAGGCCAGCAGCAGCAGC 0.542 NaN NaN NaN NaN NaN NaN 18 826 --- --- TAOK2 9344 broad.mit.edu 37 16 29998498 29998500 + In_Frame_Del DEL CTG CTG - TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr16:29998498_29998500delCTG uc002dva.1 + 16 3688_3690 c.2905_2907delCTG c.(2905-2907)CTGdel p.L974del uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_In_Frame_Del_p.L981del|TAOK2_uc002dvd.1_In_Frame_Del_p.L801del NM_016151 NP_057235 Q9UL54 TAOK2_HUMAN TAO kinase 2 isoform 2 974 Leu-rich.|Helical; (Potential). actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity ovary(1) 1 CCTGCCCCTCCTGCTGCTGCTGC 0.709 NaN NaN NaN NaN NaN NaN 7 435 --- --- ZNF513 130557 broad.mit.edu 37 2 27600891 27600892 + Frame_Shift_Del DEL TG TG - TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4534413b-d0d0-4b34-a3d4-f821705485ae ce1d3ff8-4d0d-4764-8243-da7b6102d4ea g.chr2:27600891_27600892delTG uc002rkk.2 - 4 1346_1347 c.1146_1147delCA c.(1144-1149)CACAGTfs p.H382fs ZNF513_uc002rkj.2_Frame_Shift_Del_p.H320fs NM_144631 NP_653232 Q8N8E2 ZN513_HUMAN zinc finger protein 513 382_383 regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding p.S383C(1) ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTCTCACCACTGTGTGTCTTCA 0.609 NaN NaN NaN NaN NaN NaN 57 160 --- ---