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 TMEM61 199964 broad.mit.edu 37 1 55457654 55457654 + Missense_Mutation SNP G A A TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr1:55457654G>A uc001cyd.2 + 3 785 c.511G>A c.(511-513)GCC>ACC p.A171T NM_182532 NP_872338 Q8N0U2 TMM61_HUMAN transmembrane protein 61 171 integral to membrane 0 CACCCAGCCCGCCTGGCCTCC 0.642 TTF2 8458 broad.mit.edu 37 1 117638845 117638845 + Missense_Mutation SNP C T T TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr1:117638845C>T uc001egy.2 + 20 3130 c.3110C>T c.(3109-3111)GCC>GTC p.A1037V NM_003594 NP_003585 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase 1037 Helicase C-terminal. mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding ovary(1) 1 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) CTGACTTATGCCACCATCGAT 0.458 PI4KB 5298 broad.mit.edu 37 1 151271347 151271347 + Missense_Mutation SNP C T T TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr1:151271347C>T uc001ext.2 - 9 2367 c.1952G>A c.(1951-1953)CGC>CAC p.R651H PI4KB_uc001exr.2_Missense_Mutation_p.R663H|PI4KB_uc001exs.2_Missense_Mutation_p.R636H|PI4KB_uc001exu.2_Missense_Mutation_p.R636H|PI4KB_uc010pcw.1_Missense_Mutation_p.R319H NM_002651 NP_002642 Q9UBF8 PI4KB_HUMAN catalytic phosphatidylinositol 4-kinase beta 651 PI3K/PI4K. phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding ovary(2)|skin(2) 4 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CACAAAATTGCGCTGTGCACT 0.502 HRNR 388697 broad.mit.edu 37 1 152188049 152188049 + Missense_Mutation SNP T G G TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr1:152188049T>G uc001ezt.1 - 3 6132 c.6056A>C c.(6055-6057)CAT>CCT p.H2019P NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2019 22. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGCAGAACCATGTTGCCCATG 0.552 LCE5A 254910 broad.mit.edu 37 1 152484251 152484251 + Nonsense_Mutation SNP C T T TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr1:152484251C>T uc001ezy.2 + 2 417 c.241C>T c.(241-243)CGA>TGA p.R81* CRCT1_uc001ezz.2_5'Flank NM_178438 NP_848525 Q5TCM9 LCE5A_HUMAN late cornified envelope 5A 81 Cys-rich. keratinization ovary(1) 1 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCTCCGACGCCGACCTCAGAG 0.677 ITLN1 55600 broad.mit.edu 37 1 160851913 160851913 + Missense_Mutation SNP G T T TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr1:160851913G>T uc001fxc.2 - 4 355 c.239C>A c.(238-240)ACC>AAC p.T80N NM_017625 NP_060095 Q8WWA0 ITLN1_HUMAN intelectin precursor 80 Fibrinogen C-terminal. positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction anchored to membrane|brush border membrane|extracellular region|membrane raft receptor binding|sugar binding ovary(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) GGCCACCAGGGTCCAGCCGCC 0.592 C1orf125 126859 broad.mit.edu 37 1 179354443 179354443 + Missense_Mutation SNP G A A TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr1:179354443G>A uc001gmo.2 + 9 939 c.812G>A c.(811-813)CGA>CAA p.R271Q C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_Missense_Mutation_p.R59Q|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.R271Q NM_144696 NP_653297 Q5T1B0 AXDN1_HUMAN hypothetical protein LOC126859 isoform 1 271 0 GAACTTATTCGACAAGTCAGT 0.358 WNT9A 7483 broad.mit.edu 37 1 228112065 228112065 + Missense_Mutation SNP G A A TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr1:228112065G>A uc001hri.2 - 3 477 c.389C>T c.(388-390)TCG>TTG p.S130L NM_003395 NP_003386 O14904 WNT9A_HUMAN wingless-type MMTV integration site family, 130 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity central_nervous_system(1)|pancreas(1) 2 Prostate(94;0.0405) CAGGCCAGCCGAGGAGATGGC 0.662 NLRP3 114548 broad.mit.edu 37 1 247587155 247587155 + Missense_Mutation SNP G A A rs138946894 byFrequency TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr1:247587155G>A uc001icr.2 + 5 548 c.410G>A c.(409-411)CGT>CAT p.R137H NLRP3_uc001ics.2_Missense_Mutation_p.R137H|NLRP3_uc001icu.2_Missense_Mutation_p.R137H|NLRP3_uc001icw.2_Missense_Mutation_p.R137H|NLRP3_uc001icv.2_Missense_Mutation_p.R137H|NLRP3_uc010pyw.1_Missense_Mutation_p.R135H|NLRP3_uc001ict.1_Missense_Mutation_p.R135H NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 137 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) GTAGATTACCGTAAGAAGTAC 0.507 ODF3 113746 broad.mit.edu 37 11 197577 197577 + Silent SNP G A A TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr11:197577G>A uc001lob.2 + 3 420 c.126G>A c.(124-126)ACG>ACA p.T42T ODF3_uc010qvk.1_Silent_p.T42T|ODF3_uc001loc.2_Silent_p.T42T NM_053280 NP_444510 Q96PU9 ODF3A_HUMAN outer dense fiber of sperm tails 3 42 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm p.T42T(1) ovary(1) 1 all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) TGAAGCACACGCCCACCAAGC 0.652 KRTAP5-4 387267 broad.mit.edu 37 11 1642827 1642827 + Missense_Mutation SNP G C C TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr11:1642827G>C uc009ycy.1 - 4 722 c.635C>G c.(634-636)TCC>TGC p.S212C NM_001012709 NP_001012727 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 226 9 X 4 AA repeats of C-C-X-P. keratin filament 0 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ACCTGAGGAGGAGCAGCAGGG 0.607 APBB1 322 broad.mit.edu 37 11 6423823 6423823 + Missense_Mutation SNP A G G TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr11:6423823A>G uc001mdb.1 - 7 1337 c.1237T>C c.(1237-1239)TCT>CCT p.S413P APBB1_uc001mcz.1_Missense_Mutation_p.S34P|APBB1_uc001mdd.3_Missense_Mutation_p.S193P|APBB1_uc001mda.2_Intron|APBB1_uc001mdc.1_Missense_Mutation_p.S413P|APBB1_uc010rab.1_5'Flank|APBB1_uc010rac.1_5'Flank|APBB1_uc010rad.1_Missense_Mutation_p.S34P|APBB1_uc010rae.1_Missense_Mutation_p.S178P|APBB1_uc010raf.1_Missense_Mutation_p.S154P|APBB1_uc009yfa.2_Missense_Mutation_p.S154P|APBB1_uc009yey.2_Missense_Mutation_p.S154P|APBB1_uc010rag.1_Missense_Mutation_p.S154P|APBB1_uc009yfb.2_Missense_Mutation_p.S154P|APBB1_uc001mde.2_Missense_Mutation_p.S154P|APBB1_uc010rah.1_Missense_Mutation_p.S154P NM_001164 NP_001155 O00213 APBB1_HUMAN amyloid beta A4 precursor protein-binding, 413 PID 1. apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(2) 2 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) CAGCCCCCAGACATGGGGTCA 0.582 OR4C12 283093 broad.mit.edu 37 11 50003266 50003266 + Missense_Mutation SNP G A A rs148765699 byFrequency TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr11:50003266G>A uc010ria.1 - 1 772 c.772C>T c.(772-774)CGC>TGC p.R258C NM_001005270 NP_001005270 Q96R67 OR4CC_HUMAN olfactory receptor, family 4, subfamily C, 258 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 GTCACTGAGCGCAGATACACA 0.433 OR5D16 390144 broad.mit.edu 37 11 55606713 55606713 + Silent SNP G A A TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr11:55606713G>A uc010rio.1 + 1 486 c.486G>A c.(484-486)GCG>GCA p.A162A NM_001005496 NP_001005496 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, 162 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_epithelial(135;0.208) TGACACTCGCGTGCTCTGCTT 0.453 OR8H3 390152 broad.mit.edu 37 11 55890211 55890211 + Missense_Mutation SNP T G G TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr11:55890211T>G uc001nii.1 + 1 363 c.363T>G c.(361-363)GAT>GAG p.D121E NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, 121 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00693) TGGCCTATGATCGCTATGCAG 0.468 TCN1 6947 broad.mit.edu 37 11 59630133 59630133 + Missense_Mutation SNP C T T TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr11:59630133C>T uc001noj.2 - 3 420 c.322G>A c.(322-324)GCT>ACT p.A108T NM_001062 NP_001053 P20061 TCO1_HUMAN transcobalamin I precursor 108 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding ovary(2) 2 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TTTTCCTCAGCGTTACGACAT 0.358 AHNAK 79026 broad.mit.edu 37 11 62284308 62284308 + Nonsense_Mutation SNP G A A TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr11:62284308G>A uc001ntl.2 - 5 17881 c.17581C>T c.(17581-17583)CGA>TGA p.R5861* AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 5861 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) GAGGACAGTCGGGACTTCTTA 0.522 TECTA 7007 broad.mit.edu 37 11 120983846 120983846 + Silent SNP C T T rs148364865 byFrequency TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr11:120983846C>T uc010rzo.1 + 4 552 c.552C>T c.(550-552)TAC>TAT p.Y184Y NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 184 NIDO. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) TCAATTATTACGAAATCAACT 0.567 OREG0021430 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) OR4D5 219875 broad.mit.edu 37 11 123811110 123811110 + Missense_Mutation SNP C T T rs141929562 TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr11:123811110C>T uc001pzk.1 + 1 787 c.787C>T c.(787-789)CGG>TGG p.R263W NM_001001965 NP_001001965 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, 263 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) AAGGCCTTTTCGGACATTCCC 0.512 ATN1 1822 broad.mit.edu 37 12 7047759 7047759 + Missense_Mutation SNP C T T TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr12:7047759C>T uc001qrw.1 + 7 2870 c.2633C>T c.(2632-2634)CCT>CTT p.P878L ATN1_uc001qrx.1_Missense_Mutation_p.P878L NM_001007026 NP_001007027 P54259 ATN1_HUMAN atrophin-1 878 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding ovary(2)|breast(2)|pancreas(1)|skin(1) 6 TACCTGGGTCCTGACACTCCA 0.632 OREG0021641 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SLC26A10 65012 broad.mit.edu 37 12 58014190 58014190 + Missense_Mutation SNP G A A TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr12:58014190G>A uc001spe.2 + 1 498 c.187G>A c.(187-189)GTC>ATC p.V63I uc001spc.2_5'Flank|SLC26A10_uc001spf.2_RNA NM_133489 NP_597996 Q8NG04 S2610_HUMAN solute carrier family 26, member 10 63 Helical; (Potential). integral to membrane antiporter activity large_intestine(1)|central_nervous_system(1) 2 Melanoma(17;0.122) TTTCTTCCCCGTCCTCATCTA 0.537 NOS1 4842 broad.mit.edu 37 12 117723944 117723944 + Missense_Mutation SNP G A A TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr12:117723944G>A uc001twm.1 - 6 1941 c.1255C>T c.(1255-1257)CGC>TGC p.R419C NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 419 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CCCACACAGCGCGAGGCATTC 0.557 KDM2B 84678 broad.mit.edu 37 12 121890960 121890960 + Missense_Mutation SNP C T T TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr12:121890960C>T uc001uat.2 - 13 2026 c.1922G>A c.(1921-1923)CGC>CAC p.R641H KDM2B_uc001uaq.2_Missense_Mutation_p.R81H|KDM2B_uc010szy.1_Missense_Mutation_p.R81H|KDM2B_uc001uar.2_Missense_Mutation_p.R232H|KDM2B_uc001uas.2_Missense_Mutation_p.R610H|KDM2B_uc001uau.2_Missense_Mutation_p.R524H NM_032590 NP_115979 Q8NHM5 KDM2B_HUMAN F-box and leucine-rich repeat protein 10 isoform 641 CXXC-type. embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding ovary(1)|skin(1) 2 CTGCTTCATGCGCCCGGGGCC 0.706 KBTBD6 89890 broad.mit.edu 37 13 41705212 41705212 + Missense_Mutation SNP A G G TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr13:41705212A>G uc001uxu.1 - 1 1725 c.1436T>C c.(1435-1437)CTA>CCA p.L479P KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.L413P|uc001uxv.1_5'Flank NM_152903 NP_690867 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain-containing 6 479 Kelch 2. protein binding ovary(1)|skin(1) 2 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) AATTACCATTAGGTCAAAGGA 0.433 TSHR 7253 broad.mit.edu 37 14 81610025 81610025 + Silent SNP C T T TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr14:81610025C>T uc001xvd.1 + 10 1779 c.1623C>T c.(1621-1623)ATC>ATT p.I541I NM_000369 NP_000360 P16473 TSHR_HUMAN thyroid stimulating hormone receptor isoform 1 541 Helical; Name=4; (Potential). cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1) 299 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) CATGTGCCATCATGGTTGGGG 0.587 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism ASB2 51676 broad.mit.edu 37 14 94404157 94404157 + Missense_Mutation SNP G A A TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr14:94404157G>A uc001ycc.1 - 7 2003 c.1514C>T c.(1513-1515)GCG>GTG p.A505V ASB2_uc001ycb.1_Missense_Mutation_p.A199V|ASB2_uc001ycd.2_Missense_Mutation_p.A553V|ASB2_uc001yce.1_Missense_Mutation_p.A451V NM_016150 NP_057234 Q96Q27 ASB2_HUMAN ankyrin repeat and SOCS box-containing protein 505 intracellular signal transduction ovary(1)|pancreas(1) 2 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) GATGGGCCCCGCCCAGCGGCT 0.597 MGA 23269 broad.mit.edu 37 15 42058284 42058284 + Silent SNP C T T TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr15:42058284C>T uc010ucy.1 + 24 8185 c.8004C>T c.(8002-8004)GGC>GGT p.G2668G MGA_uc010ucz.1_Silent_p.G2459G NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 1 2629 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) ATATGGGTGGCAGCAAATATC 0.393 EIF3J 8669 broad.mit.edu 37 15 44849840 44849840 + Missense_Mutation SNP G A A TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr15:44849840G>A uc001ztv.2 + 6 690 c.563G>A c.(562-564)TGT>TAT p.C188Y EIF3J_uc010ueg.1_Intron|EIF3J_uc001ztw.2_Missense_Mutation_p.C139Y NM_003758 NP_003749 O75822 EIF3J_HUMAN eukaryotic translation initiation factor 3, 188 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity 0 all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122) all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758) CGAGATGTGTGTATTTCATGT 0.313 MORF4L1 10933 broad.mit.edu 37 15 79183885 79183885 + Missense_Mutation SNP A G G TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr15:79183885A>G uc002bel.2 + 8 714 c.526A>G c.(526-528)AGG>GGG p.R176G MORF4L1_uc010bli.1_3'UTR|MORF4L1_uc010blj.1_Missense_Mutation_p.R110G|MORF4L1_uc002bem.2_Missense_Mutation_p.R137G|MORF4L1_uc010une.1_Missense_Mutation_p.R49G NM_206839 NP_996670 Q9UBU8 MO4L1_HUMAN MORF-related gene 15 isoform 2 176 Sufficient for interaction with SIN3A.|Interaction with RB1-1. double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Sin3 complex protein N-terminus binding 0 TCGGAAGAAAAGGGCCCGGGT 0.448 GRIN2A 2903 broad.mit.edu 37 16 9943716 9943716 + Missense_Mutation SNP C T T TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr16:9943716C>T uc002czo.3 - 5 1773 c.1225G>A c.(1225-1227)GTC>ATC p.V409I GRIN2A_uc010uym.1_Missense_Mutation_p.V409I|GRIN2A_uc010uyn.1_Missense_Mutation_p.V252I|GRIN2A_uc002czr.3_Missense_Mutation_p.V409I NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 409 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TCCAGGGTGACGATGCTGAGA 0.582 CPNE7 27132 broad.mit.edu 37 16 89649923 89649923 + Missense_Mutation SNP C T T TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr16:89649923C>T uc002fnp.2 + 4 699 c.569C>T c.(568-570)ACG>ATG p.T190M CPNE7_uc002fnq.2_Intron NM_014427 NP_055242 Q9UBL6 CPNE7_HUMAN copine 7 isoform b 190 lipid metabolic process transporter activity 0 all_hematologic(23;0.0748) all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147) GGTGGCCACACGCAGGGATGG 0.522 NF1 4763 broad.mit.edu 37 17 29533378 29533378 + Nonsense_Mutation SNP C T T TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr17:29533378C>T uc002hgg.2 + 12 1714 c.1381C>T c.(1381-1383)CGA>TGA p.R461* NF1_uc002hge.1_Nonsense_Mutation_p.R461*|NF1_uc002hgf.1_Nonsense_Mutation_p.R461*|NF1_uc002hgh.2_Nonsense_Mutation_p.R461*|NF1_uc010csn.1_Nonsense_Mutation_p.R321* NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 461 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.R461*(2)|p.?(2) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) CCCAGCAATACGAATGGCACC 0.383 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) NF1 4763 broad.mit.edu 37 17 29552132 29552132 + Missense_Mutation SNP G T T TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr17:29552132G>T uc002hgg.2 + 17 2198 c.1865G>T c.(1864-1866)TGT>TTT p.C622F NF1_uc002hgh.2_Missense_Mutation_p.C622F|NF1_uc010csn.1_Missense_Mutation_p.C482F|NF1_uc002hgi.1_5'UTR NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 622 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.?(2) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AGAAGTTCCTGTCACTTTCTC 0.373 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) TMEM132E 124842 broad.mit.edu 37 17 32956104 32956104 + Missense_Mutation SNP C T T TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr17:32956104C>T uc002hif.2 + 5 1277 c.949C>T c.(949-951)CGG>TGG p.R317W NM_207313 NP_997196 Q6IEE7 T132E_HUMAN transmembrane protein 132E precursor 317 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(366;0.231) GTCAGTCAAGCGGAGGATCAT 0.612 C17orf46 124783 broad.mit.edu 37 17 43333267 43333267 + Silent SNP G A A TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr17:43333267G>A uc002iis.1 - 4 378 c.282C>T c.(280-282)AAC>AAT p.N94N LOC100133991_uc010dah.2_Intron|C17orf46_uc010wjk.1_Silent_p.N73N NM_152343 NP_689556 Q96LK8 CQ046_HUMAN hypothetical protein LOC124783 94 large_intestine(1)|ovary(1) 2 CAGACTCCTCGTTCGAGTTGG 0.542 LRRC37A3 374819 broad.mit.edu 37 17 62893283 62893283 + Missense_Mutation SNP C G G TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr17:62893283C>G uc002jey.2 - 3 624 c.93G>C c.(91-93)TGG>TGC p.W31C LRRC37A3_uc010wqg.1_Intron|LRRC37A3_uc010wqf.1_Intron NM_199340 NP_955372 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 31 integral to membrane 0 TGACTAGTAGCCACAATAGTT 0.622 ZNF532 55205 broad.mit.edu 37 18 56587257 56587257 + Missense_Mutation SNP G A A TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr18:56587257G>A uc002lho.2 + 4 2285 c.1738G>A c.(1738-1740)GTG>ATG p.V580M ZNF532_uc002lhp.2_Missense_Mutation_p.V578M|ZNF532_uc010xeg.1_Missense_Mutation_p.V578M|ZNF532_uc002lhr.2_Missense_Mutation_p.V578M|ZNF532_uc002lhs.2_Missense_Mutation_p.V578M NM_018181 NP_060651 Q9HCE3 ZN532_HUMAN zinc finger protein 532 580 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|skin(1) 2 GCAGAGTTCTGTGGTGGAAGC 0.522 ZNF236 7776 broad.mit.edu 37 18 74680222 74680222 + Missense_Mutation SNP G T T TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr18:74680222G>T uc002lmi.2 + 31 5663 c.5465G>T c.(5464-5466)AGC>ATC p.S1822I ZNF236_uc002lmj.2_RNA NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 1822 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) GAGGAGCTGAGCCGGACCCTC 0.602 ACTL9 284382 broad.mit.edu 37 19 8808430 8808430 + Missense_Mutation SNP C T T rs139329295 TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr19:8808430C>T uc002mkl.2 - 1 743 c.622G>A c.(622-624)GTC>ATC p.V208I NM_178525 NP_848620 Q8TC94 ACTL9_HUMAN actin-like 9 208 cytoplasm|cytoskeleton large_intestine(2)|pancreas(1) 3 CCCTGGAAGACGGGCACTGTG 0.667 PVR 5817 broad.mit.edu 37 19 45153152 45153152 + Missense_Mutation SNP G A A TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr19:45153152G>A uc002ozm.2 + 3 798 c.499G>A c.(499-501)GTC>ATC p.V167I PVR_uc010ejs.2_Missense_Mutation_p.V167I|PVR_uc010xxb.1_Missense_Mutation_p.V167I|PVR_uc010xxc.1_Missense_Mutation_p.V167I|PVR_uc002ozn.2_Missense_Mutation_p.V112I NM_006505 NP_006496 P15151 PVR_HUMAN poliovirus receptor isoform alpha 167 Extracellular (Potential).|Ig-like C2-type 1. adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus cell adhesion molecule binding|receptor activity 0 Lung NSC(12;0.00608)|all_lung(12;0.0148) Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112) Epithelial(262;0.000601) GGCCCGCTGCGTCTCCACAGG 0.617 NTF4 4909 broad.mit.edu 37 19 49564639 49564639 + Missense_Mutation SNP G A A rs121918427 TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr19:49564639G>A uc002pmf.3 - 2 757 c.616C>T c.(616-618)CGG>TGG p.R206W CGB7_uc010yah.1_Intron NM_006179 NP_006170 P34130 NTF4_HUMAN neurotrophin 5 preproprotein 206 R -> Q (in a patient with primary open- angle glaucoma; uncertain pathological significance).|R -> W (in patients with primary open- angle glaucoma and normal pressure glaucoma; uncertain pathological significance; impaired ligand-mediated TRKB signaling and reduced neurite outgrowth). adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification endoplasmic reticulum lumen|extracellular region growth factor activity 0 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) CGGCCAGTCCGGCTGAGGAGT 0.602 ZNF813 126017 broad.mit.edu 37 19 53994271 53994271 + Missense_Mutation SNP G A A TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr19:53994271G>A uc002qbu.2 + 4 913 c.785G>A c.(784-786)CGT>CAT p.R262H ZNF813_uc010eqq.1_Intron NM_001004301 NP_001004301 Q6ZN06 ZN813_HUMAN zinc finger protein 813 262 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) GTGTGCCATCGTAGATGTCAC 0.413 SNTG2 54221 broad.mit.edu 37 2 1168837 1168837 + Missense_Mutation SNP G A A TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr2:1168837G>A uc002qwq.2 + 8 687 c.559G>A c.(559-561)GGT>AGT p.G187S SNTG2_uc010ewi.2_Intron NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 187 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) CTTTGACAGCGGTTTGCATCT 0.468 ABCG5 64240 broad.mit.edu 37 2 44051252 44051252 + Missense_Mutation SNP A G G TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr2:44051252A>G uc002rtn.2 - 9 1264 c.1124T>C c.(1123-1125)GTG>GCG p.V375A ABCG5_uc002rtm.2_5'UTR|ABCG5_uc002rto.2_Missense_Mutation_p.V204A|ABCG5_uc002rtp.2_5'UTR NM_022436 NP_071881 Q9H222 ABCG5_HUMAN ATP-binding cassette sub-family G member 5 375 Cytoplasmic (Potential). cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity ovary(1)|skin(1) 2 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) GTTTCTTGTCACTCTCCTGAA 0.433 KLRAQ1 129285 broad.mit.edu 37 2 48692078 48692078 + Missense_Mutation SNP T G G TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr2:48692078T>G uc002rwm.2 + 8 882 c.697T>G c.(697-699)TAT>GAT p.Y233D KLRAQ1_uc002rwi.1_Missense_Mutation_p.Y233D|KLRAQ1_uc002rwj.2_Missense_Mutation_p.Y233D|KLRAQ1_uc002rwl.2_Missense_Mutation_p.Y187D|KLRAQ1_uc002rwk.2_Missense_Mutation_p.Y233D|KLRAQ1_uc010yok.1_Missense_Mutation_p.Y233D NM_001135629 NP_001129101 Q6ZMI0 KLRAQ_HUMAN KLRAQ motif containing 1 isoform 1 233 ovary(1) 1 TTCTGTAGAATATAGTCAGTA 0.318 APLF 200558 broad.mit.edu 37 2 68729870 68729870 + Missense_Mutation SNP C G G TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr2:68729870C>G uc002sep.2 + 3 349 c.176C>G c.(175-177)ACA>AGA p.T59R APLF_uc010fdf.2_Missense_Mutation_p.T35R NM_173545 NP_775816 Q8IW19 APLF_HUMAN aprataxin and PNKP like factor 59 FHA-like. double-strand break repair|single strand break repair cytosol|nucleus 3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding ovary(2) 2 TAGATACACACAAATCCATGT 0.254 ALPPL2 251 broad.mit.edu 37 2 233274393 233274393 + Silent SNP C T T TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr2:233274393C>T uc002vss.3 + 11 1463 c.1410C>T c.(1408-1410)GGC>GGT p.G470G NM_031313 NP_112603 P10696 PPBN_HUMAN placental-like alkaline phosphatase 470 phosphorylation anchored to membrane|plasma membrane alkaline phosphatase activity|metal ion binding skin(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) Amifostine(DB01143)|Levamisole(DB00848) TGGTTCACGGCGTGCAGGAGC 0.716 ZNF335 63925 broad.mit.edu 37 20 44587938 44587938 + Missense_Mutation SNP G A A TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr20:44587938G>A uc002xqw.2 - 15 2278 c.2155C>T c.(2155-2157)CGC>TGC p.R719C ZNF335_uc010zxk.1_Missense_Mutation_p.R564C NM_022095 NP_071378 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 719 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3)|ovary(1) 4 Myeloproliferative disorder(115;0.0122) GGGCGACGGCGGGAGGGGGGC 0.657 UCKL1 54963 broad.mit.edu 37 20 62571758 62571758 + Silent SNP C T T TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr20:62571758C>T uc010gkn.2 - 13 1426 c.1383G>A c.(1381-1383)GCG>GCA p.A461A UCKL1_uc002yhj.2_Silent_p.A104A|UCKL1_uc011abm.1_Silent_p.A446A|UCKL1_uc011abn.1_RNA NM_017859 NP_060329 Q9NWZ5 UCKL1_HUMAN uridine-cytidine kinase 1-like 1 461 interspecies interaction between organisms endoplasmic reticulum|nucleus ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity 0 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) CCATCATGGCCGCCGCGCCCG 0.642 TPTE 7179 broad.mit.edu 37 21 10942995 10942995 + Nonsense_Mutation SNP G A A rs147014138 byFrequency TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr21:10942995G>A uc002yip.1 - 12 960 c.592C>T c.(592-594)CGA>TGA p.R198* TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Nonsense_Mutation_p.R180*|TPTE_uc002yir.1_Nonsense_Mutation_p.R160*|TPTE_uc010gkv.1_Nonsense_Mutation_p.R60* NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 198 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ATAATAAGTCGTAGAAGTCGA 0.299 KLHL22 84861 broad.mit.edu 37 22 20819524 20819524 + Missense_Mutation SNP G A A TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr22:20819524G>A uc002zsl.1 - 4 842 c.733C>T c.(733-735)CGG>TGG p.R245W KLHL22_uc011ahr.1_Missense_Mutation_p.R102W|KLHL22_uc002zsm.1_Missense_Mutation_p.R245W NM_032775 NP_116164 Q53GT1 KLH22_HUMAN kelch-like 245 cell division Cul3-RING ubiquitin ligase complex lung(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) AGCGGAAACCGCACTGTCTCA 0.607 RFPL2 10739 broad.mit.edu 37 22 32586994 32586994 + Missense_Mutation SNP C T T TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr22:32586994C>T uc003amg.3 - 5 1838 c.902G>A c.(901-903)CGC>CAC p.R301H RFPL2_uc003ame.3_Missense_Mutation_p.R240H|RFPL2_uc003amf.3_Missense_Mutation_p.R211H|RFPL2_uc003amh.3_Missense_Mutation_p.R211H NM_001098527 NP_001091997 O75678 RFPL2_HUMAN ret finger protein-like 2 isoform 2 301 B30.2/SPRY. zinc ion binding skin(1) 1 CTGTAACTTGCGGTCTACGAA 0.512 SETD2 29072 broad.mit.edu 37 3 47098909 47098909 + Missense_Mutation SNP C T T TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr3:47098909C>T uc003cqs.2 - 15 6418 c.6365G>A c.(6364-6366)CGG>CAG p.R2122Q SETD2_uc003cqv.2_Missense_Mutation_p.R2189Q|SETD2_uc003cqt.1_RNA NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 2122 Potential. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) AAACAACTTCCGGCGTTCCTC 0.423 N|F|S|Mis clear cell renal carcinoma ABHD14A 25864 broad.mit.edu 37 3 52014464 52014464 + Silent SNP G A A TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr3:52014464G>A uc003dco.2 + 4 563 c.453G>A c.(451-453)GCG>GCA p.A151A ABHD14B_uc003dcn.2_Intron|ACY1_uc011bea.1_Intron NM_015407 NP_056222 Q9BUJ0 ABHEA_HUMAN abhydrolase domain containing 14A 151 cytoplasm|integral to membrane hydrolase activity 0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) GGCGGGCAGCGCTGCTGGAGC 0.652 CACNA2D3 55799 broad.mit.edu 37 3 55107854 55107854 + Missense_Mutation SNP C T T TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr3:55107854C>T uc003dhf.2 + 37 3199 c.3151C>T c.(3151-3153)CGC>TGC p.R1051C NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 1051 Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) GATCAGAAGGCGCCCAGAATC 0.448 SENP7 57337 broad.mit.edu 37 3 101136587 101136587 + Missense_Mutation SNP C T T TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr3:101136587C>T uc003dut.2 - 5 443 c.332G>A c.(331-333)CGA>CAA p.R111Q SENP7_uc003duu.2_Missense_Mutation_p.R111Q|SENP7_uc003duv.2_Missense_Mutation_p.R78Q|SENP7_uc003duw.2_Intron|SENP7_uc003dux.2_Intron NM_020654 NP_065705 Q9BQF6 SENP7_HUMAN sentrin/SUMO-specific protease 7 isoform 1 111 proteolysis nucleus cysteine-type peptidase activity ovary(3)|lung(2) 5 TCTGAATTTTCGTCCTAAATC 0.378 ANKRD56 345079 broad.mit.edu 37 4 77817817 77817817 + Missense_Mutation SNP C T T TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr4:77817817C>T uc003hki.2 - 1 1186 c.1186G>A c.(1186-1188)GAC>AAC p.D396N NM_001029870 NP_001025041 A6NEL2 ANR56_HUMAN ankyrin repeat domain 56 396 0 TCCACAAAGTCATCCAGATCT 0.572 MMRN1 22915 broad.mit.edu 37 4 90857233 90857233 + Missense_Mutation SNP A C C TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr4:90857233A>C uc003hst.2 + 6 2473 c.2402A>C c.(2401-2403)CAA>CCA p.Q801P MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.Q543P NM_007351 NP_031377 Q13201 MMRN1_HUMAN multimerin 1 801 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen ovary(4) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) TTTGTTTTGCAAGTCGCCAAG 0.378 PCDHA1 56147 broad.mit.edu 37 5 140167729 140167729 + Silent SNP G A A TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr5:140167729G>A uc003lhb.2 + 1 1854 c.1854G>A c.(1852-1854)GCG>GCA p.A618A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Silent_p.A618A NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 618 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGGCGGCGCGCGCATCCCGT 0.667 PCDHB12 56124 broad.mit.edu 37 5 140590288 140590288 + Silent SNP G A A TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr5:140590288G>A uc003liz.2 + 1 1998 c.1809G>A c.(1807-1809)TCG>TCA p.S603S PCDHB12_uc011dak.1_Silent_p.S266S NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 603 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTGGCTGTCGTACCAGCTGC 0.721 PCDHGA4 56111 broad.mit.edu 37 5 140736435 140736435 + Silent SNP C T T TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr5:140736435C>T uc003ljq.1 + 1 1668 c.1668C>T c.(1666-1668)AAC>AAT p.N556N PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Silent_p.N556N NM_018917 NP_061740 Q9Y5G9 PCDG4_HUMAN protocadherin gamma subfamily A, 4 isoform 1 556 Extracellular (Potential).|Cadherin 5. 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) TGGACCAGAACGACAATGTCC 0.577 NOTCH4 4855 broad.mit.edu 37 6 32172007 32172007 + Missense_Mutation SNP C T T TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr6:32172007C>T uc003obb.2 - 19 3164 c.3025G>A c.(3025-3027)GAG>AAG p.E1009K NOTCH4_uc003oba.2_5'Flank|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 1009 Extracellular (Potential).|EGF-like 26. cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1) 22 TCCAGACACTCGTCCACGTCT 0.612 MYO6 4646 broad.mit.edu 37 6 76599857 76599858 + Frame_Shift_Ins INS - A A TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr6:76599857_76599858insA uc003pih.1 + 26 3021_3022 c.2742_2743insA c.(2740-2745)CAGAAAfs p.Q914fs MYO6_uc003pig.1_Frame_Shift_Ins_p.Q914fs|MYO6_uc003pii.1_Frame_Shift_Ins_p.Q914fs NM_004999 NP_004990 Q9UM54 MYO6_HUMAN myosin VI 914_915 Potential. actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding kidney(1)|pancreas(1) 2 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) GTGCATTACAGAAAAAAAAACA 0.381 QKI 9444 broad.mit.edu 37 6 163899821 163899821 + Frame_Shift_Del DEL G - - TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr6:163899821delG uc003qui.2 + 3 846 c.295delG c.(295-297)GTTfs p.V99fs QKI_uc003que.2_Frame_Shift_Del_p.V99fs|QKI_uc003quf.2_Frame_Shift_Del_p.V99fs|QKI_uc003qug.2_Frame_Shift_Del_p.V99fs|QKI_uc003quh.2_Frame_Shift_Del_p.V99fs|QKI_uc003quj.2_Frame_Shift_Del_p.V99fs NM_006775 NP_006766 Q96PU8 QKI_HUMAN quaking homolog, KH domain RNA binding isoform 99 KH. mRNA processing|mRNA transport|regulation of translation|RNA splicing cytoplasm|nucleus|plasma membrane RNA binding|SH3 domain binding large_intestine(1)|ovary(1) 2 Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203) all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234) GTTTAATTTTGTTGGGAGAAT 0.358 ANLN 54443 broad.mit.edu 37 7 36459856 36459856 + Missense_Mutation SNP A G G TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr7:36459856A>G uc003tff.2 + 11 2152 c.1948A>G c.(1948-1950)AGA>GGA p.R650G ANLN_uc011kaz.1_Missense_Mutation_p.R562G|ANLN_uc003tfg.2_Missense_Mutation_p.R613G|ANLN_uc010kxe.2_Missense_Mutation_p.R612G NM_018685 NP_061155 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 650 Interaction with F-actin. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding ovary(2)|skin(1) 3 AAAATTCCAAAGAACTCGTGT 0.433 CACNA2D1 781 broad.mit.edu 37 7 81799924 81799924 + Missense_Mutation SNP C T T TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr7:81799924C>T uc003uhr.1 - 4 552 c.296G>A c.(295-297)CGC>CAC p.R99H NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 99 Extracellular (Potential). R -> S (in Ref. 1; AAA51903). voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) CAATGCCAGGCGCTGAAAAAC 0.348 PCLO 27445 broad.mit.edu 37 7 82784341 82784341 + Missense_Mutation SNP G T T TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr7:82784341G>T uc003uhx.2 - 2 1905 c.1616C>A c.(1615-1617)CCC>CAC p.P539H PCLO_uc003uhv.2_Missense_Mutation_p.P539H NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 485 Gln-rich.|Pro-rich.|10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TTGAGCTGAGGGTTTTGCTGA 0.547 SAMD9L 219285 broad.mit.edu 37 7 92763758 92763758 + Nonsense_Mutation SNP A C C TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr7:92763758A>C uc003umh.1 - 5 2743 c.1527T>G c.(1525-1527)TAT>TAG p.Y509* SAMD9L_uc003umj.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc003umi.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc010lfb.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc003umk.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc010lfc.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc010lfd.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc011khx.1_Intron NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 509 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) CTAGAGGTTTATATGTCTCGC 0.378 TAS2R41 259287 broad.mit.edu 37 7 143175728 143175728 + Missense_Mutation SNP G A A TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr7:143175728G>A uc003wdc.1 + 1 763 c.763G>A c.(763-765)GCA>ACA p.A255T uc003wda.2_Intron NM_176883 NP_795364 P59536 T2R41_HUMAN taste receptor, type 2, member 41 255 Helical; Name=6; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity pancreas(1)|skin(1) 2 Melanoma(164;0.15) CATTGATGCCGCAAAATTTAT 0.493 TPD52L3 89882 broad.mit.edu 37 9 6328761 6328761 + Missense_Mutation SNP C T T TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr9:6328761C>T uc003zjw.2 + 1 387 c.166C>T c.(166-168)CGC>TGC p.R56C TPD52L3_uc003zjv.2_Missense_Mutation_p.R56C|TPD52L3_uc003zjx.1_Missense_Mutation_p.R56C NM_033516 NP_277051 Q96J77 TPD55_HUMAN protein kinase NYD-SP25 isoform 1 56 Potential. protein binding 0 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1) CAAAGAGAGACGCTGTGGGGA 0.512 TMEM215 401498 broad.mit.edu 37 9 32784670 32784670 + Silent SNP C T T TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr9:32784670C>T uc003zri.3 + 2 854 c.489C>T c.(487-489)GAC>GAT p.D163D NM_212558 NP_997723 Q68D42 TM215_HUMAN transmembrane protein 215 163 integral to membrane 0 GATACCTGGACGGCTACTGCC 0.602 TRPM6 140803 broad.mit.edu 37 9 77423011 77423011 + Missense_Mutation SNP C T T TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr9:77423011C>T uc004ajl.1 - 14 1815 c.1577G>A c.(1576-1578)CGC>CAC p.R526H TRPM6_uc004ajk.1_Missense_Mutation_p.R521H|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.R526H|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 526 Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 GTAGTTGCTGCGATATGCTCT 0.388 FGD3 89846 broad.mit.edu 37 9 95792189 95792189 + Missense_Mutation SNP C T T TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chr9:95792189C>T uc004asw.2 + 15 2219 c.1591C>T c.(1591-1593)CGT>TGT p.R531C FGD3_uc004asx.2_Missense_Mutation_p.R531C|FGD3_uc004asz.2_Missense_Mutation_p.R531C|FGD3_uc011luc.1_Missense_Mutation_p.R134C NM_001083536 NP_001077005 Q5JSP0 FGD3_HUMAN FYVE, RhoGEF and PH domain containing 3 531 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(1)|breast(1) 2 TAAGACCAGACGTGACAAGGA 0.537 TLR7 51284 broad.mit.edu 37 X 12906487 12906487 + Missense_Mutation SNP G A A TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chrX:12906487G>A uc004cvc.2 + 3 2999 c.2860G>A c.(2860-2862)GTG>ATG p.V954M NM_016562 NP_057646 Q9NYK1 TLR7_HUMAN toll-like receptor 7 precursor 954 TIR.|Cytoplasmic (Potential). cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity ovary(2)|lung(2)|breast(1) 5 Imiquimod(DB00724) CAAAAAGACAGTGTTTGTGAT 0.388 CHRDL1 91851 broad.mit.edu 37 X 109922646 109922646 + Silent SNP G A A TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chrX:109922646G>A uc004eou.3 - 11 1513 c.1164C>T c.(1162-1164)CTC>CTT p.L388L CHRDL1_uc004eov.2_Silent_p.L377L|CHRDL1_uc004eow.2_Silent_p.L386L|CHRDL1_uc010nps.2_Silent_p.L387L|CHRDL1_uc004eot.2_Silent_p.L307L|CHRDL1_uc011mss.1_Silent_p.L302L NM_001143981 NP_001137453 Q9BU40 CRDL1_HUMAN chordin-like 1 isoform 1 precursor 380 BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region 0 GGAAGTGCTGGAGAATGCCTA 0.453 AFF2 2334 broad.mit.edu 37 X 148039907 148039907 + Missense_Mutation SNP G A A TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chrX:148039907G>A uc004fcp.2 + 12 3088 c.2609G>A c.(2608-2610)CGC>CAC p.R870H AFF2_uc004fcq.2_Missense_Mutation_p.R860H|AFF2_uc004fcr.2_Missense_Mutation_p.R831H|AFF2_uc011mxb.1_Missense_Mutation_p.R835H|AFF2_uc004fcs.2_Missense_Mutation_p.R837H|AFF2_uc011mxc.1_Missense_Mutation_p.R511H NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 870 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) AAGAAGCAGCGCCTGGAGGAG 0.512 L1CAM 3897 broad.mit.edu 37 X 153130576 153130576 + Missense_Mutation SNP C T T TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chrX:153130576C>T uc004fjb.2 - 21 2947 c.2839G>A c.(2839-2841)GTG>ATG p.V947M L1CAM_uc004fjc.2_Missense_Mutation_p.V947M|L1CAM_uc010nuo.2_Missense_Mutation_p.V942M NM_000425 NP_000416 P32004 L1CAM_HUMAN L1 cell adhesion molecule isoform 1 precursor 947 Extracellular (Potential).|Fibronectin type-III 4. Missing (in HSAS). axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane p.V947M(1) ovary(8)|central_nervous_system(1) 9 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCGGTGAGCACGCCGTTGTGG 0.716 AVPR2 554 broad.mit.edu 37 X 153171843 153171843 + Missense_Mutation SNP G A A TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 76209124-b3f0-4bb2-8b2c-e268abdefe2b 399d129a-791c-4786-bc04-f6dada7d0242 g.chrX:153171843G>A uc004fjh.3 + 2 954 c.883G>A c.(883-885)GCG>ACG p.A295T AVPR2_uc004fjg.3_Missense_Mutation_p.A84T|AVPR2_uc004fji.2_Missense_Mutation_p.A295T NM_000054 NP_000045 P30518 V2R_HUMAN arginine vasopressin receptor 2 isoform 1 295 Extracellular (Potential). activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane vasopressin receptor activity breast(1) 1 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067) GCTGTGGGCCGCGTGGGACCC 0.647