Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut UBE4B 10277 broad.mit.edu 37 1 10209284 10209284 + Silent SNP A A T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr1:10209284A>T uc001aqs.3 + 20 3347 c.2634A>T c.(2632-2634)GCA>GCT p.A878A UBE4B_uc001aqr.3_Silent_p.A749A|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Silent_p.A333A|UBE4B_uc001aqt.1_Silent_p.A218A NM_001105562 NP_001099032 O95155 UBE4B_HUMAN ubiquitination factor E4B isoform 1 878 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding ovary(2)|skin(2) 4 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) AGGTATTTGCAGCGTTGCCTG 0.289 NA 46 201 0 0 0.00361 0 0 FAAH 2166 broad.mit.edu 37 1 46867858 46867858 + Silent SNP C C T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr1:46867858C>T uc001cpu.2 + 2 373 c.291C>T c.(289-291)CTC>CTT p.L97L NM_001441 NP_001432 O00519 FAAH1_HUMAN fatty acid amide hydrolase 97 Cytoplasmic (By similarity). fatty acid catabolic process cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(166;0.155) Propofol(DB00818)|Thiopental(DB00599) AGGCCGTGCTCTTCACCTATG 0.632 NA 5 15 0 0 0.001168 0 0 PTBP2 58155 broad.mit.edu 37 1 97278882 97278882 + Missense_Mutation SNP A A C TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr1:97278882A>C uc001drq.2 + 14 1763 c.1517A>C c.(1516-1518)CAG>CCG p.Q506P PTBP2_uc001drn.2_Missense_Mutation_p.Q512P|PTBP2_uc001dro.2_Missense_Mutation_p.Q507P|PTBP2_uc010otz.1_Missense_Mutation_p.Q523P|PTBP2_uc001drp.2_RNA|PTBP2_uc009wdw.2_Missense_Mutation_p.Q455P|PTBP2_uc001drr.2_Missense_Mutation_p.Q511P|PTBP2_uc010oua.1_Missense_Mutation_p.Q515P|PTBP2_uc001dru.2_RNA|PTBP2_uc001drs.1_Missense_Mutation_p.Q126P|PTBP2_uc001drt.2_Missense_Mutation_p.Q125P NM_021190 NP_067013 Q9UKA9 PTBP2_HUMAN polypyrimidine tract binding protein 2 506 RRM 4. nucleotide binding 0 all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171) all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202) GAAGCTATTCAGGCCTTGATT 0.348 NA 19 50 0 0 0.010504 0 0 VCAM1 7412 broad.mit.edu 37 1 101196962 101196962 + Silent SNP C C A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr1:101196962C>A uc001dti.2 + 6 1533 c.1413C>A c.(1411-1413)ATC>ATA p.I471I VCAM1_uc001dtj.2_Silent_p.I379I|VCAM1_uc010ouj.1_Silent_p.I409I NM_001078 NP_001069 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 isoform a 471 Ig-like C2-type 5.|Extracellular (Potential). heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(1) 1 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) TGACCTTCATCCCTACCATTG 0.383 NA 20 86 2.4624e-09 2.90364e-09 0.008871 1 0 NOTCH2 4853 broad.mit.edu 37 1 120539844 120539844 + Missense_Mutation SNP C C A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr1:120539844C>A uc001eik.2 - 4 783 c.527G>T c.(526-528)GGG>GTG p.G176V NOTCH2_uc001eil.2_Missense_Mutation_p.G176V|NOTCH2_uc001eim.3_Missense_Mutation_p.G93V NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 176 Extracellular (Potential).|EGF-like 4. anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACATTTCTGCCCTGTGAAGCC 0.547 NA N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome 30 126 3.90053e-15 4.97317e-15 0.012213 1 0 FLG 2312 broad.mit.edu 37 1 152279982 152279982 + Missense_Mutation SNP G G T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr1:152279982G>T uc001ezu.1 - 3 7416 c.7380C>A c.(7378-7380)GAC>GAA p.D2460E NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2460 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CATGAATGGTGTCCTGACCCT 0.587 NA Ichthyosis 129 580 2.3678e-45 3.42575e-45 0.00361 1 0 FLG 2312 broad.mit.edu 37 1 152281324 152281324 + Nonsense_Mutation SNP G G C TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr1:152281324G>C uc001ezu.1 - 3 6074 c.6038C>G c.(6037-6039)TCA>TGA p.S2013* NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2013 Ser-rich.|Filaggrin 12. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCTGTCTGCTGACTGGAGCTG 0.557 NA Ichthyosis 182 705 0 0 0.00361 0 0 CDC73 79577 broad.mit.edu 37 1 193099332 193099332 + Missense_Mutation SNP C C G TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr1:193099332C>G uc001gtb.2 + 3 509 c.266C>G c.(265-267)CCT>CGT p.P89R NM_024529 NP_078805 Q6P1J9 CDC73_HUMAN parafibromin 89 cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent Cdc73/Paf1 complex protein binding parathyroid(46)|ovary(1)|breast(1)|pancreas(1) 49 GTTAGAAGACCTGATCGAAAA 0.259 NA Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome 13 40 0 0 0.00245 0 0 ESRRG 2104 broad.mit.edu 37 1 216737685 216737685 + Silent SNP C C T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr1:216737685C>T uc001hkw.1 - 5 904 c.738G>A c.(736-738)CCG>CCA p.P246P ESRRG_uc001hky.1_Silent_p.P223P|ESRRG_uc009xdp.1_Silent_p.P223P|ESRRG_uc001hkz.1_Silent_p.P184P|ESRRG_uc010puc.1_Silent_p.P223P|ESRRG_uc001hla.1_Silent_p.P223P|ESRRG_uc001hlb.1_Silent_p.P223P|ESRRG_uc010pud.1_Silent_p.P54P|ESRRG_uc001hlc.1_Silent_p.P223P|ESRRG_uc001hld.1_Silent_p.P223P|ESRRG_uc001hkx.1_Silent_p.P258P|ESRRG_uc009xdo.1_Silent_p.P223P|ESRRG_uc001hle.1_Silent_p.P223P NM_001438 NP_001429 P62508 ERR3_HUMAN estrogen-related receptor gamma isoform 1 246 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|kidney(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) AGATCTTCTCCGGTTCAGCCA 0.478 NA 15 51 0 0 0.003163 0 0 NVL 4931 broad.mit.edu 37 1 224424241 224424241 + Missense_Mutation SNP G G A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr1:224424241G>A uc001hok.2 - 20 2376 c.2333C>T c.(2332-2334)GCA>GTA p.A778V NVL_uc001hol.2_Missense_Mutation_p.A672V|NVL_uc010pvd.1_Missense_Mutation_p.A687V|NVL_uc010pve.1_Missense_Mutation_p.A589V|NVL_uc010pvf.1_RNA NM_002533 NP_002524 O15381 NVL_HUMAN nuclear VCP-like isoform 1 778 aggresome|cytoplasm|nucleolus ATP binding|nucleoside-triphosphatase activity skin(2) 2 GBM - Glioblastoma multiforme(131;0.00501) ACCAGCAATTGCTTCCAAATT 0.259 NA 33 155 0 0 0.005524 0 0 MTR 4548 broad.mit.edu 37 1 237052596 237052596 + Silent SNP G G C TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr1:237052596G>C uc001hyi.3 + 28 3390 c.2967G>C c.(2965-2967)CCG>CCC p.P989P MTR_uc010pxw.1_Silent_p.P582P|MTR_uc010pxx.1_Silent_p.P938P|MTR_uc010pxy.1_Silent_p.P843P NM_000254 NP_000245 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine 989 AdoMet activation. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) GCAAGTACCCGAATCGAGGCT 0.473 NA 22 102 0 0 0.012319 0 0 NLRP3 114548 broad.mit.edu 37 1 247587992 247587992 + Missense_Mutation SNP G G C TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr1:247587992G>C uc001icr.2 + 5 1385 c.1247G>C c.(1246-1248)TGG>TCG p.W416S NLRP3_uc001ics.2_Missense_Mutation_p.W416S|NLRP3_uc001icu.2_Missense_Mutation_p.W416S|NLRP3_uc001icw.2_Missense_Mutation_p.W416S|NLRP3_uc001icv.2_Missense_Mutation_p.W416S|NLRP3_uc010pyw.1_Missense_Mutation_p.W414S|NLRP3_uc001ict.1_Missense_Mutation_p.W414S NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 416 NACHT. 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) CTGGTCTGCTGGATCGTGTGC 0.547 NA 18 102 0 0 0.007413 0 0 OR2M2 391194 broad.mit.edu 37 1 248343317 248343317 + Silent SNP C C A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr1:248343317C>A uc010pzf.1 + 1 30 c.30C>A c.(28-30)TCC>TCA p.S10S NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, 10 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CCTTCAACTCCGACTTCATCC 0.433 NA 29 138 2.85442e-18 3.7327e-18 0.010818 1 0 MAPK8 5599 broad.mit.edu 37 10 49634457 49634457 + Silent SNP G G T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr10:49634457G>T uc009xnz.2 + 9 1130 c.906G>T c.(904-906)CTG>CTT p.L302L MAPK8_uc001jgl.2_Silent_p.L302L|MAPK8_uc001jgm.2_Silent_p.L302L|MAPK8_uc001jgo.2_Silent_p.L302L|MAPK8_uc009xoa.2_Silent_p.L226L|MAPK8_uc001jgn.2_Silent_p.L302L|MAPK8_uc010qgk.1_Silent_p.L302L|MAPK8_uc001jgp.2_Silent_p.L302L|MAPK8_uc001jgq.2_Silent_p.L302L NM_139047 NP_620635 P45983 MK08_HUMAN mitogen-activated protein kinase 8 isoform JNK1 302 Protein kinase. activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|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 cytosol|nucleoplasm ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1) 8 Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116) Epithelial(53;3.46e-65)|Lung(62;0.125) CCAAAATGCTGGTAATAGATG 0.358 NA 14 41 0.000422831 0.000444627 0.004007 1 0 GLUD1 2746 broad.mit.edu 37 10 88819956 88819956 + Missense_Mutation SNP C C G TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr10:88819956C>G uc001keh.2 - 9 1337 c.1240G>C c.(1240-1242)GAC>CAC p.D414H GLUD1_uc001keg.2_Missense_Mutation_p.D247H|GLUD1_uc010qmp.1_Missense_Mutation_p.D281H NM_005271 NP_005262 P00367 DHE3_HUMAN glutamate dehydrogenase 1 precursor 414 glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion mitochondrial matrix ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding 0 L-Glutamic Acid(DB00142)|NADH(DB00157) AAGATCTTGTCAGCTTCTGGA 0.408 NA 19 114 0 0 0.012319 0 0 PDCD11 22984 broad.mit.edu 37 10 105169541 105169541 + Missense_Mutation SNP G G T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr10:105169541G>T uc001kwy.1 + 8 1043 c.956G>T c.(955-957)GGA>GTA p.G319V NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 319 S1 motif 3. mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding ovary(2)|breast(2)|skin(2)|central_nervous_system(1) 7 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) AAGAAAGCTGGAACATATTTC 0.433 NA 29 118 6.70999e-13 8.34657e-13 0.004289 1 0 MICAL2 9645 broad.mit.edu 37 11 12281439 12281439 + Missense_Mutation SNP C C T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr11:12281439C>T uc001mjz.2 + 26 3617 c.3329C>T c.(3328-3330)CCC>CTC p.P1110L MICAL2_uc010rch.1_Missense_Mutation_p.P920L|MICAL2_uc001mka.2_Missense_Mutation_p.P1110L|MICAL2_uc010rci.1_Missense_Mutation_p.P1089L|MICAL2_uc001mkb.2_Missense_Mutation_p.P884L|MICAL2_uc001mkc.2_Missense_Mutation_p.P863L|MICAL2_uc001mkd.2_Missense_Mutation_p.P692L|MICAL2_uc010rcj.1_Missense_Mutation_p.P322L|MICAL2_uc001mkf.2_RNA NM_014632 NP_055447 O94851 MICA2_HUMAN microtubule associated monoxygenase, calponin 1110 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding upper_aerodigestive_tract(2) 2 Epithelial(150;0.00552) GAAGGCAGCCCCCCAGGTATC 0.622 NA 5 37 0 0 0.006214 0 0 SPTY2D1 144108 broad.mit.edu 37 11 18637496 18637496 + Nonsense_Mutation SNP G G A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr11:18637496G>A uc001moy.2 - 3 541 c.325C>T c.(325-327)CAG>TAG p.Q109* SPTY2D1_uc010rdi.1_Nonsense_Mutation_p.Q109* NM_194285 NP_919261 Q68D10 SPT2_HUMAN SPT2, Suppressor of Ty, domain containing 1 109 breast(1) 1 TCTGTTGCCTGCCTCTTCTTT 0.448 NA 34 144 0 0 0.004878 0 0 SLC17A6 57084 broad.mit.edu 37 11 22363306 22363306 + Missense_Mutation SNP G G T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr11:22363306G>T uc001mqk.2 + 2 732 c.319G>T c.(319-321)GGG>TGG p.G107W NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (sodium-dependent 107 Vesicular (Potential). sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3)|breast(1) 4 CATCCACCGCGGGGGCAAGGT 0.632 NA 21 83 3.73808e-20 4.95175e-20 0.005443 1 0 BBOX1 8424 broad.mit.edu 37 11 27148881 27148881 + Silent SNP C C A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr11:27148881C>A uc001mre.1 + 9 1413 c.1045C>A c.(1045-1047)CGA>AGA p.R349R BBOX1_uc009yih.1_Silent_p.R349R|BBOX1_uc001mrg.1_Silent_p.R349R NM_003986 NP_003977 O75936 BODG_HUMAN gamma-butyrobetaine dioxygenase 349 carnitine biosynthetic process actin cytoskeleton|cytosol|intracellular membrane-bounded organelle gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Succinic acid(DB00139)|Vitamin C(DB00126) ACTTCATGGCCGACGTAGCTA 0.408 NA 14 89 1.15088e-07 1.32644e-07 0.004007 1 0 TNKS1BP1 85456 broad.mit.edu 37 11 57087739 57087739 + Missense_Mutation SNP C C A rs142187077 byFrequency TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr11:57087739C>A uc001njr.2 - 2 854 c.542G>T c.(541-543)CGC>CTC p.R181L TNKS1BP1_uc001njs.2_Missense_Mutation_p.R181L|TNKS1BP1_uc009ymd.1_5'UTR NM_033396 NP_203754 Q9C0C2 TB182_HUMAN tankyrase 1-binding protein 1 181 Pro-rich. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding skin(1) 1 all_epithelial(135;0.21) ACCCCACAGGCGGTCGGGGCT 0.652 NA 21 83 4.40665e-25 6.19969e-25 0.009535 1 0 UBE2L6 9246 broad.mit.edu 37 11 57319895 57319895 + Missense_Mutation SNP G G A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr11:57319895G>A uc001nkn.1 - 4 494 c.398C>T c.(397-399)CCG>CTG p.P133L UBE2L6_uc001nko.1_Missense_Mutation_p.P67L NM_004223 NP_004214 O14933 UB2L6_HUMAN ubiquitin-conjugating enzyme E2L 6 isoform 1 133 negative regulation of type I interferon production cytosol protein binding|ubiquitin-protein ligase activity ovary(1) 1 GAACAGCTCCGGATTCTGTGT 0.577 NA 73 272 0 0 0.00361 0 0 EHBP1L1 254102 broad.mit.edu 37 11 65351973 65351973 + Missense_Mutation SNP G G A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr11:65351973G>A uc001oeo.3 + 11 3533 c.3268G>A c.(3268-3270)GAC>AAC p.D1090N EHBP1L1_uc001oep.1_Missense_Mutation_p.D110N NM_001099409 NP_001092879 Q8N3D4 EH1L1_HUMAN tangerin 1090 CH. central_nervous_system(1) 1 TGCCTCGCTAGACCCACTCAA 0.597 NA 11 23 0 0 0.001368 0 0 DNAJB13 374407 broad.mit.edu 37 11 73662017 73662017 + Translation_Start_Site SNP G G A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr11:73662017G>A uc001ouo.2 + 1 654 c.-97G>A c.(-99--95)GAGTG>GAATG NM_153614 NP_705842 P59910 DJB13_HUMAN testis spermatogenesis apoptosis-related protein apoptosis|protein folding|spermatogenesis heat shock protein binding|unfolded protein binding 0 Breast(11;7.42e-05) AACTCCCAGAGTGCACCTGTG 0.557 NA 3 10 0 0 0.004672 0 0 PPME1 51400 broad.mit.edu 37 11 73950294 73950294 + Missense_Mutation SNP A A G TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr11:73950294A>G uc001ouw.2 + 9 926 c.827A>G c.(826-828)GAC>GGC p.D276G PPME1_uc009yty.2_Missense_Mutation_p.D146G|PPME1_uc001oux.2_Missense_Mutation_p.D89G NM_016147 NP_057231 Q9Y570 PPME1_HUMAN protein phosphatase methylesterase 1 276 protein demethylation carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity 0 Breast(11;3.29e-05) AAGGAAGATGACATGGAGGTG 0.403 NA 10 41 0 0 0.008291 0 0 RSF1 51773 broad.mit.edu 37 11 77412022 77412022 + Missense_Mutation SNP T T A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr11:77412022T>A uc001oyn.2 - 6 2372 c.2252A>T c.(2251-2253)AAA>ATA p.K751I RSF1_uc001oym.2_Missense_Mutation_p.K499I NM_016578 NP_057662 Q96T23 RSF1_HUMAN remodeling and spacing factor 1 751 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(2) 4 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) TTCTAGAACTTTGGGGGGAGA 0.413 NA 73 229 0 0 0.00361 0 0 CNTN5 53942 broad.mit.edu 37 11 99715850 99715850 + Missense_Mutation SNP G G A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr11:99715850G>A uc001pga.2 + 6 772 c.433G>A c.(433-435)GAA>AAA p.E145K CNTN5_uc009ywv.1_Missense_Mutation_p.E145K|CNTN5_uc001pfz.2_Missense_Mutation_p.E145K|CNTN5_uc001pgb.2_Missense_Mutation_p.E71K NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 145 Ig-like C2-type 1. cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) AATAGATCTGGAAAGTGATTA 0.368 NA 22 81 0 0 0.012319 0 0 PVRL1 5818 broad.mit.edu 37 11 119547916 119547916 + Silent SNP T T C TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr11:119547916T>C uc001pwv.2 - 4 919 c.747A>G c.(745-747)GTA>GTG p.V249V PVRL1_uc001pwu.1_Silent_p.V249V|PVRL1_uc001pww.2_Silent_p.V249V NM_002855 NP_002846 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 isoform 1 249 Extracellular (Potential).|Ig-like C2-type 2. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity 0 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) CCTCAATGGTTACCTCAGGCT 0.552 NA 22 105 0 0 0.00333 0 0 NCAPD3 23310 broad.mit.edu 37 11 134062761 134062761 + Missense_Mutation SNP C C A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr11:134062761C>A uc001qhd.1 - 16 2474 c.1868G>T c.(1867-1869)GGG>GTG p.G623V NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA NM_015261 NP_056076 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 623 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 5 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) CGGGACCACCCCCCGCAACCA 0.547 NA 35 100 2.40579e-17 3.126e-17 0.00623 1 0 KLRC3 3823 broad.mit.edu 37 12 10573032 10573032 + Nonsense_Mutation SNP G G A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr12:10573032G>A uc001qyf.2 - 1 163 c.118C>T c.(118-120)CAA>TAA p.Q40* KLRC3_uc001qyh.2_Intron|KLRC3_uc001qyi.1_Nonsense_Mutation_p.Q40*|KLRC3_uc010shc.1_Nonsense_Mutation_p.Q40*|KLRC3_uc010shd.1_Nonsense_Mutation_p.Q40* NM_002261 NP_002252 Q07444 NKG2E_HUMAN killer cell lectin-like receptor subfamily C, 40 Cytoplasmic (Potential). cellular defense response integral to membrane sugar binding|transmembrane receptor activity ovary(2)|skin(1) 3 AATTCTACTTGGAATATTTCC 0.368 NA 15 77 0 0 0.012319 0 0 KLRC3 3823 broad.mit.edu 37 12 10573045 10573045 + Silent SNP T T C TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr12:10573045T>C uc001qyf.2 - 1 150 c.105A>G c.(103-105)GAA>GAG p.E35E KLRC3_uc001qyh.2_Intron|KLRC3_uc001qyi.1_Silent_p.E35E|KLRC3_uc010shc.1_Silent_p.E35E|KLRC3_uc010shd.1_Silent_p.E35E NM_002261 NP_002252 Q07444 NKG2E_HUMAN killer cell lectin-like receptor subfamily C, 35 Cytoplasmic (Potential). cellular defense response integral to membrane sugar binding|transmembrane receptor activity ovary(2)|skin(1) 3 ATATTTCCTGTTCGGTTCCTG 0.378 NA 11 61 0 0 0.004007 0 0 KLRC3 3823 broad.mit.edu 37 12 10588481 10588481 + Silent SNP T T C TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr12:10588481T>C uc001qyh.2 - 1 112 c.105A>G c.(103-105)GAA>GAG p.E35E KLRC2_uc010she.1_Silent_p.E35E|KLRC2_uc001qyk.2_Silent_p.E35E NM_002261 NP_002252 Q07444 NKG2E_HUMAN killer cell lectin-like receptor subfamily C, 35 Cytoplasmic (Potential). cellular defense response integral to membrane sugar binding|transmembrane receptor activity ovary(2)|skin(1) 3 ATATTTCCTGTTCGGTTCCTG 0.378 NA 10 164 0 0 0.004007 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr12:25398285C>A uc001rgp.1 - 2 215 c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 6 8 0.00198382 0.00207538 0.001984 1 0 CCDC91 55297 broad.mit.edu 37 12 28459852 28459852 + Nonsense_Mutation SNP G G T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr12:28459852G>T uc001riq.2 + 4 461 c.445G>T c.(445-447)GAA>TAA p.E149* CCDC91_uc001rio.2_Nonsense_Mutation_p.E119*|CCDC91_uc009zjk.2_RNA|CCDC91_uc001rip.1_Nonsense_Mutation_p.E149*|CCDC91_uc001rir.2_5'UTR|CCDC91_uc009zjl.2_5'UTR NM_018318 NP_060788 Q7Z6B0 CCD91_HUMAN GGA binding partner 149 Potential. protein transport Golgi apparatus|membrane central_nervous_system(1) 1 Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184) CAAAGTATCTGAAGAAGAAAA 0.313 NA 8 10 1.12685e-05 1.20988e-05 0.004482 1 0 Unknown 0 broad.mit.edu 37 12 31283472 31283472 + Missense_Mutation SNP A A C TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr12:31283472A>C uc010sjy.1 - 23 3044 c.3044T>G c.(3043-3045)TTT>TGT p.F1015C RecName: Full=Ovostatin homolog 1; Flags: Precursor; NA CTGCTGCCAAAACACACTATA 0.323 NA 6 8 0 0 0.001168 0 0 Unknown 0 broad.mit.edu 37 12 31283475 31283475 + Missense_Mutation SNP A A T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr12:31283475A>T uc010sjy.1 - 23 3041 c.3041T>A c.(3040-3042)GTG>GAG p.V1014E RecName: Full=Ovostatin homolog 1; Flags: Precursor; NA CTGCCAAAACACACTATAGGA 0.318 NA 6 8 0 0 0.001168 0 0 CNTN1 1272 broad.mit.edu 37 12 41387065 41387065 + Missense_Mutation SNP G G T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr12:41387065G>T uc001rmm.1 + 17 2220 c.2107G>T c.(2107-2109)GGT>TGT p.G703C CNTN1_uc001rmn.1_Missense_Mutation_p.G692C NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 703 axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TAAAACAGACGGTGCTGGTAT 0.368 NA 5 31 2.0095e-06 2.21588e-06 0.001984 1 0 MLL2 8085 broad.mit.edu 37 12 49438031 49438031 + Missense_Mutation SNP G G A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr12:49438031G>A uc001rta.3 - 21 5140 c.5140C>T c.(5140-5142)CCT>TCT p.P1714S NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 1714 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 TGTGCAGCAGGCCCCTTTTTC 0.622 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) OREG0021780 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 31 0 0 0.00499 0 0 HOXC12 3228 broad.mit.edu 37 12 54350298 54350298 + Missense_Mutation SNP G G A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr12:54350298G>A uc010soq.1 + 2 797 c.797G>A c.(796-798)AGA>AAA p.R266K NM_173860 NP_776272 P31275 HXC12_HUMAN homeobox C12 266 Homeobox. multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1) 1 CAGAACCGGAGAATGAAAAAG 0.532 NA 6 273 0 0 0.00308 0 0 DTX3 196403 broad.mit.edu 37 12 58000753 58000753 + Missense_Mutation SNP G G T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr12:58000753G>T uc001sow.1 + 5 444 c.107G>T c.(106-108)CGG>CTG p.R36L DTX3_uc001sov.1_Missense_Mutation_p.R29L|DTX3_uc001sox.1_Missense_Mutation_p.R29L|DTX3_uc001soy.1_Missense_Mutation_p.R29L NM_178502 NP_848597 Q8N9I9 DTX3_HUMAN deltex homolog 3 36 Notch signaling pathway cytoplasm zinc ion binding breast(1)|central_nervous_system(1) 2 Melanoma(17;0.122) ACCCCAGCCCGGCTGGCCCGG 0.597 NA 110 418 1.02947e-67 1.50009e-67 0.00361 1 0 IRAK3 11213 broad.mit.edu 37 12 66638373 66638373 + Missense_Mutation SNP G G C TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr12:66638373G>C uc001sth.2 + 9 1097 c.995G>C c.(994-996)AGC>ACC p.S332T IRAK3_uc010ssy.1_Missense_Mutation_p.S271T NM_007199 NP_009130 Q9Y616 IRAK3_HUMAN interleukin-1 receptor-associated kinase 3 332 Protein kinase. interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan cytoplasm|nucleus ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity lung(3)|ovary(2)|breast(2)|central_nervous_system(1) 8 GBM - Glioblastoma multiforme(28;0.0203) AATATGACCAGCAGCAGCAGT 0.428 NA 4 154 0 0 0.001168 0 0 DNAH10 196385 broad.mit.edu 37 12 124298433 124298433 + Missense_Mutation SNP C C T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr12:124298433C>T uc001uft.3 + 20 3425 c.3400C>T c.(3400-3402)CGT>TGT p.R1134C DNAH10_uc010tav.1_3'UTR|DNAH10_uc010taw.1_3'UTR NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1134 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GGAGCGATACCGTACCATGGC 0.378 NA 10 35 0 0 0.00245 0 0 TMEM132D 121256 broad.mit.edu 37 12 129563191 129563191 + Missense_Mutation SNP A A T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr12:129563191A>T uc009zyl.1 - 8 2331 c.2003T>A c.(2002-2004)CTC>CAC p.L668H TMEM132D_uc001uia.2_Missense_Mutation_p.L206H NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 668 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) CTGCACCCCGAGGTCTGTGAT 0.577 NA 35 162 0 0 0.004878 0 0 ATP8A2 51761 broad.mit.edu 37 13 26116057 26116057 + Missense_Mutation SNP G G A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr13:26116057G>A uc001uqk.2 + 9 794 c.652G>A c.(652-654)GGT>AGT p.G218S ATP8A2_uc010tdi.1_Missense_Mutation_p.G178S|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc001uql.1_Missense_Mutation_p.G178S NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, 178 Cytoplasmic (Potential). ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|large_intestine(1)|skin(1) 4 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) AATCTTTTAGGGTTTGAGTCA 0.423 NA 15 98 0 0 0.00499 0 0 FLT1 2321 broad.mit.edu 37 13 29001963 29001963 + Missense_Mutation SNP C C T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr13:29001963C>T uc001usb.3 - 9 1487 c.1202G>A c.(1201-1203)GGG>GAG p.G401E FLT1_uc010aar.1_Missense_Mutation_p.G401E|FLT1_uc001usc.3_Missense_Mutation_p.G401E|FLT1_uc010tdp.1_Missense_Mutation_p.G401E NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 401 Ig-like C2-type 4.|Extracellular (Potential). cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) TGTATAATTCCCTGCATCCTC 0.398 NA 19 91 0 0 0.008871 0 0 LCP1 3936 broad.mit.edu 37 13 46718649 46718649 + Missense_Mutation SNP G G T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr13:46718649G>T uc001vaz.3 - 11 1307 c.1181C>A c.(1180-1182)ACG>AAG p.T394K LCP1_uc010ack.2_5'Flank|LCP1_uc001vay.3_5'UTR|LCP1_uc001vba.3_Missense_Mutation_p.T394K NM_002298 NP_002289 P13796 PLSL_HUMAN L-plastin 394 Actin-binding 2.|CH 3. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding lung(4)|ovary(3) 7 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) CTCTTCTCTCGTCTCACCTAG 0.388 NA T BCL6 NHL 23 66 2.89027e-11 3.50961e-11 0.002299 1 0 PCDH17 27253 broad.mit.edu 37 13 58207613 58207613 + Silent SNP T T C TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr13:58207613T>C uc001vhq.1 + 1 1825 c.933T>C c.(931-933)TAT>TAC p.Y311Y PCDH17_uc010aec.1_Silent_p.Y311Y NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 311 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) ATCTGGACTATGAGGAAAACG 0.587 Melanoma(72;952 1291 1619 12849 33676) NA 19 75 0 0 0.007413 0 0 P704P 641455 broad.mit.edu 37 14 20020054 20020054 + Missense_Mutation SNP G G T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr14:20020054G>T uc001vwc.3 - 1 219 c.167C>A c.(166-168)ACA>AAA p.T56K P704P_uc001vwb.3_RNA NM_001145442 NP_001138914 A6NI47 POTEM_HUMAN prostate-specific P704P 56 0 GCTCCTGAGTGTCTTCATAGC 0.612 NA 11 349 5.03518e-11 6.07797e-11 0.007413 1 0 OR4K2 390431 broad.mit.edu 37 14 20345046 20345046 + Missense_Mutation SNP C C A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr14:20345046C>A uc001vwh.1 + 1 620 c.620C>A c.(619-621)GCG>GAG p.A207E NM_001005501 NP_001005501 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, 207 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GGCATAATTGCGTTGTCCTGT 0.398 NA 34 362 3.86903e-22 5.29719e-22 0.002836 1 0 MYH7 4625 broad.mit.edu 37 14 23892851 23892851 + Missense_Mutation SNP C C T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr14:23892851C>T uc001wjx.2 - 24 3110 c.3004G>A c.(3004-3006)GCC>ACC p.A1002T NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1002 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TGTTGGTGGGCCTCTTGCAGA 0.542 NA 76 215 0 0 0.00361 0 0 NEDD8 4738 broad.mit.edu 37 14 24687414 24687414 + Missense_Mutation SNP C C T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr14:24687414C>T uc001wnn.2 - 3 177 c.74G>A c.(73-75)CGA>CAA p.R25Q CHMP4A_uc001wnj.2_5'Flank|MDP1_uc001wnk.1_5'Flank|CHMP4A_uc001wnm.1_5'Flank|MDP1_uc001wnl.1_5'Flank|NEDD8_uc001wno.2_RNA NM_006156 NP_006147 Q15843 NEDD8_HUMAN neural precursor cell expressed, developmentally 25 anatomical structure morphogenesis|protein neddylation|ubiquitin-dependent protein catabolic process nucleus ubiquitin protein ligase binding 0 GBM - Glioblastoma multiforme(265;0.0186) CTCCTTGATTCGCTCCACCTT 0.517 NA 31 97 0 0 0.009535 0 0 SEC23A 10484 broad.mit.edu 37 14 39530984 39530984 + Missense_Mutation SNP G G A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr14:39530984G>A uc001wup.1 - 13 1713 c.1490C>T c.(1489-1491)ACC>ATC p.T497I SEC23A_uc010tqa.1_Missense_Mutation_p.T359I|SEC23A_uc010tqb.1_Missense_Mutation_p.T468I|SEC23A_uc010tqc.1_Missense_Mutation_p.T359I NM_006364 NP_006355 Q15436 SC23A_HUMAN SEC23-related protein A 497 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane protein binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1) 5 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0151) AGCAATGGTGGTCACTCGGAT 0.428 NA 15 85 0 0 0.007413 0 0 OTX2 5015 broad.mit.edu 37 14 57268910 57268910 + Nonsense_Mutation SNP G G T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr14:57268910G>T uc001xcp.2 - 3 584 c.413C>A c.(412-414)TCA>TAA p.S138* OTX2_uc010aou.2_Nonsense_Mutation_p.S138*|OTX2_uc001xcq.2_Nonsense_Mutation_p.S146* NM_172337 NP_758840 P32243 OTX2_HUMAN orthodenticle homeobox 2 isoform b 138 axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway growth cone|nucleus|protein complex eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding ovary(1) 1 Medulloblastoma(1;0.00184)|all_neural(1;0.00414) GGTCGGGACTGAGGTGCTAGA 0.542 NA 38 57 6.70999e-13 8.34657e-13 0.004289 1 0 MARK3 4140 broad.mit.edu 37 14 103932328 103932328 + Nonsense_Mutation SNP T T G TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr14:103932328T>G uc001ymz.3 + 9 1463 c.797T>G c.(796-798)TTA>TGA p.L266* MARK3_uc001ymx.3_Nonsense_Mutation_p.L266*|MARK3_uc001ymw.3_Nonsense_Mutation_p.L266*|MARK3_uc001yna.3_Nonsense_Mutation_p.L266*|MARK3_uc001ymy.3_Nonsense_Mutation_p.L187*|MARK3_uc010awp.2_Nonsense_Mutation_p.L289*|MARK3_uc010tyb.1_Nonsense_Mutation_p.L77* NM_001128918 NP_001122390 P27448 MARK3_HUMAN MAP/microtubule affinity-regulating kinase 3 266 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|ovary(1)|stomach(1) 4 Melanoma(154;0.155) Epithelial(46;0.241) GAGAGAGTATTAAGAGGGAAA 0.403 NA 33 53 0 0 0.002836 0 0 PACS2 23241 broad.mit.edu 37 14 105860917 105860917 + Missense_Mutation SNP G G T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr14:105860917G>T uc001yqt.2 + 24 2753 c.2578G>T c.(2578-2580)GAC>TAC p.D860Y PACS2_uc001yqs.2_Missense_Mutation_p.D785Y|PACS2_uc001yqv.2_Missense_Mutation_p.D864Y|PACS2_uc001yqu.2_Missense_Mutation_p.D875Y NM_015197 NP_056012 Q86VP3 PACS2_HUMAN phosphofurin acidic cluster sorting protein 2 860 apoptosis|interspecies interaction between organisms endoplasmic reticulum lumen|mitochondrion pancreas(1) 1 all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036) Epithelial(152;0.138) GGAGTGCAGCGACGTCAAGTT 0.458 NA 45 56 1.61004e-24 2.24964e-24 0.00361 1 0 OR4N4 283694 broad.mit.edu 37 15 22382965 22382965 + Missense_Mutation SNP C C A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr15:22382965C>A uc001yuc.1 + 7 1474 c.493C>A c.(493-495)CGC>AGC p.R165S LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Missense_Mutation_p.R165S NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, 165 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CCTCATCCTCCGCTTGCCTTT 0.517 NA 19 317 1.96292e-10 2.34173e-10 0.010504 1 0 SCG3 29106 broad.mit.edu 37 15 51988120 51988120 + Missense_Mutation SNP T T A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr15:51988120T>A uc002abh.2 + 8 1325 c.917T>A c.(916-918)CTG>CAG p.L306Q SCG3_uc010ufz.1_Missense_Mutation_p.L74Q NM_013243 NP_037375 Q8WXD2 SCG3_HUMAN secretogranin III isoform 1 precursor 306 platelet activation|platelet degranulation extracellular region|stored secretory granule ovary(1) 1 all cancers(107;0.00488) ATGAAAACACTGATTGACTTT 0.348 NA 51 247 0 0 0.00361 0 0 ITGA11 22801 broad.mit.edu 37 15 68695330 68695330 + Missense_Mutation SNP G G A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr15:68695330G>A uc002ari.2 - 2 178 c.91C>T c.(91-93)CGG>TGG p.R31W ITGA11_uc010bib.2_Missense_Mutation_p.R31W NM_001004439 NP_001004439 Q9UKX5 ITA11_HUMAN integrin, alpha 11 precursor 31 FG-GAP 1.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity kidney(2)|pancreas(1) 3 Tirofiban(DB00775) GGGATGACCCGGGGCTTCCTG 0.617 NA 11 47 0 0 0.001368 0 0 CCNF 899 broad.mit.edu 37 16 2481129 2481129 + Splice_Site SNP A A T rs111704404 TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr16:2481129A>T uc002cqd.1 + 2 105 c.17_splice c.e2-2 p.V6_splice CCNF_uc002cqe.1_Splice_Site NM_001761 NP_001752 P41002 CCNF_HUMAN cyclin F cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process centriole|nucleus|SCF ubiquitin ligase complex protein binding central_nervous_system(1)|kidney(1) 2 Ovarian(90;0.17) TTTTTCCTTCAGTGGTCCACT 0.403 NA 57 227 0 0 0.00361 0 0 ZNF213 7760 broad.mit.edu 37 16 3187321 3187321 + Missense_Mutation SNP G G A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr16:3187321G>A uc010uws.1 + 2 487 c.40G>A c.(40-42)GAG>AAG p.E14K ZNF213_uc002cud.2_RNA|ZNF213_uc010btf.2_Missense_Mutation_p.E14K|ZNF213_uc010bth.2_Missense_Mutation_p.E14K|ZNF213_uc010uwt.1_Missense_Mutation_p.E14K NM_004220 NP_004211 O14771 ZN213_HUMAN zinc finger protein 213 14 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GGCCCCTGGGGAGGGAGAAGG 0.622 NA 27 92 0 0 0.008361 0 0 SH2B1 25970 broad.mit.edu 37 16 28877776 28877776 + Missense_Mutation SNP G G T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr16:28877776G>T uc002dri.2 + 4 800 c.361G>T c.(361-363)GGC>TGC p.G121C uc010vct.1_Intron|SH2B1_uc010vdc.1_Intron|SH2B1_uc002drj.2_Missense_Mutation_p.G121C|SH2B1_uc002drk.2_Missense_Mutation_p.G121C|SH2B1_uc002drl.2_Missense_Mutation_p.G121C|SH2B1_uc010vdd.1_Intron|SH2B1_uc010vde.1_Missense_Mutation_p.G121C|SH2B1_uc002drm.2_Missense_Mutation_p.G121C NM_001145795 NP_001139267 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 isoform 1 121 Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).|Required for NGF signaling (By similarity). blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity ovary(2) 2 GGCTGTGCTGGGCCCTTCTCG 0.632 NA 20 55 8.34094e-07 9.34918e-07 0.008871 1 0 ITGAL 3683 broad.mit.edu 37 16 30505572 30505572 + Missense_Mutation SNP C C T rs145951975 TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr16:30505572C>T uc002dyi.3 + 12 1429 c.1253C>T c.(1252-1254)TCG>TTG p.S418L ITGAL_uc002dyj.3_Missense_Mutation_p.S335L|ITGAL_uc010vev.1_Intron NM_002209 NP_002200 P20701 ITAL_HUMAN integrin alpha L isoform a precursor 418 FG-GAP 4.|Extracellular (Potential). blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity ovary(3)|lung(3)|central_nervous_system(3)|breast(1) 10 Efalizumab(DB00095) CAAAAGACTTCGTTGCTGGCC 0.602 NSCLC(110;1462 1641 3311 33990 49495) NA 24 124 0 0 0.003954 0 0 SETD6 79918 broad.mit.edu 37 16 58550115 58550115 + Missense_Mutation SNP C C T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr16:58550115C>T uc002ens.2 + 3 403 c.344C>T c.(343-345)GCG>GTG p.A115V SETD6_uc010cdl.2_Missense_Mutation_p.A115V|SETD6_uc002enr.2_Missense_Mutation_p.A91V|SETD6_uc010cdm.2_RNA|SETD6_uc010vij.1_Missense_Mutation_p.A39V NM_001160305 NP_001153777 Q8TBK2 SETD6_HUMAN SET domain containing 6 isoform a 115 SET. negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response nucleus NF-kappaB binding|protein-lysine N-methyltransferase activity ovary(1) 1 GAGCGAGTTGCGCTGCAGAGC 0.498 NA 9 51 0 0 0.006214 0 0 PDP2 57546 broad.mit.edu 37 16 66919297 66919297 + Silent SNP C C G TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr16:66919297C>G uc002eqk.1 + 2 1272 c.1110C>G c.(1108-1110)ACC>ACG p.T370T NM_020786 NP_065837 Q9P2J9 PDP2_HUMAN pyruvate dehydrogenase phosphatase isoenzyme 2 370 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding ovary(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204) GCTTCAATACCGAGGCCCTCA 0.577 NA 36 124 0 0 0.003755 0 0 ZCCHC14 23174 broad.mit.edu 37 16 87446014 87446014 + Silent SNP A A G TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr16:87446014A>G uc002fjz.1 - 12 1929 c.1902T>C c.(1900-1902)CGT>CGC p.R634R ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Silent_p.R410R NM_015144 NP_055959 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 634 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding upper_aerodigestive_tract(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0285) TGATGGGCGGACGGGCGGCGT 0.607 NA 33 193 0 0 0.004878 0 0 ZMYND15 84225 broad.mit.edu 37 17 4648196 4648196 + Silent SNP G G A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr17:4648196G>A uc002fyt.2 + 11 1791 c.1752G>A c.(1750-1752)ACG>ACA p.T584T ZMYND15_uc002fyv.2_Silent_p.T623T|ZMYND15_uc002fyu.2_Silent_p.T631T NM_032265 NP_115641 Q9H091 ZMY15_HUMAN zinc finger, MYND-type containing 15 isoform 2 584 zinc ion binding 0 TCAAGGATACGTGGCTGAGGT 0.587 NA 31 143 0 0 0.002836 0 0 MED1 5469 broad.mit.edu 37 17 37564483 37564483 + Missense_Mutation SNP C C A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr17:37564483C>A uc002hrv.3 - 17 4203 c.3991G>T c.(3991-3993)GTG>TTG p.V1331L MED1_uc010wee.1_Missense_Mutation_p.V1159L|MED1_uc002hru.2_Intron NM_004774 NP_004765 Q15648 MED1_HUMAN mediator complex subunit 1 1331 Ser-rich.|Interaction with TP53. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 8 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) TTTGTGCTCACCCCCATCTGG 0.493 Pancreas(21;279 768 2492 4877 24026) NA HNSCC(31;0.082) 43 156 1.06522e-23 1.47826e-23 0.013114 1 0 C17orf104 284071 broad.mit.edu 37 17 42745037 42745037 + Silent SNP T T C TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr17:42745037T>C uc010czv.2 + 5 1758 c.1758T>C c.(1756-1758)AAT>AAC p.N586N C17orf104_uc002igy.1_Silent_p.N420N|C17orf104_uc002igz.3_Silent_p.N420N|C17orf104_uc010wja.1_RNA|C17orf104_uc002iha.2_Silent_p.N420N NM_001145080 NP_001138552 A2RUB1 CQ104_HUMAN hypothetical protein LOC284071 586 central_nervous_system(1) 1 AGCAGCCAAATGGATTTTGTG 0.353 NA 10 21 0 0 0.006214 0 0 ANKFN1 162282 broad.mit.edu 37 17 54554984 54554984 + Missense_Mutation SNP G G C TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr17:54554984G>C uc002iun.1 + 15 1953 c.1918G>C c.(1918-1920)GTG>CTG p.V640L NM_153228 NP_694960 Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain 640 large_intestine(1)|ovary(1) 2 TCTCTGCCACGTGAAGATCCG 0.408 NA 52 200 0 0 0.00361 0 0 TBC1D3P2 440452 broad.mit.edu 37 17 60348763 60348763 + Silent SNP G G A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr17:60348763G>A uc002izq.2 - 6 454 c.342C>T c.(340-342)CTC>CTT p.L114L TBC1D3P2_uc010woz.1_RNA|uc010wpa.1_5'Flank SubName: Full=Putative uncharacterized protein TBC1D3E; 0 CAATGTTCAGGAGGACTGACC 0.557 NA 25 86 0 0 0.00874 0 0 SFRS2 6427 broad.mit.edu 37 17 74733003 74733003 + Silent SNP C C G TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr17:74733003C>G uc002jsv.2 - 1 410 c.240G>C c.(238-240)CTG>CTC p.L80L SFRS2_uc002jsw.1_5'Flank|SFRS2_uc002jsx.1_RNA|SFRS2_uc002jsy.3_Silent_p.L80L|SFRS2_uc010wtg.1_Silent_p.L80L|MFSD11_uc002jsz.1_RNA|MFSD11_uc002jta.2_5'UTR|MIR636_hsa-mir-636|MI0003651_5'Flank|MFSD11_uc002jtb.2_5'Flank|MFSD11_uc010dha.2_5'Flank|MFSD11_uc002jtc.2_5'Flank|MFSD11_uc002jtd.3_5'Flank|MFSD11_uc010dhb.2_5'Flank|MFSD11_uc002jte.2_5'Flank NM_003016 NP_003007 Q01130 SRSF2_HUMAN splicing factor, arginine/serine-rich 2 80 RRM. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|protein binding|RNA binding|transcription corepressor activity 0 CGCGGCCGTCCAGCACGGCCC 0.716 NA 6 28 0 0 0.004482 0 0 LAMA1 284217 broad.mit.edu 37 18 7036072 7036072 + Missense_Mutation SNP C C T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr18:7036072C>T uc002knm.2 - 13 1847 c.1753G>A c.(1753-1755)GGA>AGA p.G585R LAMA1_uc010wzj.1_Missense_Mutation_p.G61R NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 585 Laminin IV type A 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTCAGGAATCCGCCAAACGCA 0.458 NA 10 43 0 0 0.001368 0 0 DSC1 1823 broad.mit.edu 37 18 28714691 28714691 + Missense_Mutation SNP C C A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr18:28714691C>A uc002kwn.2 - 12 1982 c.1720G>T c.(1720-1722)GCA>TCA p.A574S DSC1_uc002kwm.2_Missense_Mutation_p.A574S NM_024421 NP_077739 Q08554 DSC1_HUMAN desmocollin 1 isoform Dsc1a preproprotein 574 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(10;0.00778) ATTTGAGGTGCGTGATCGTTG 0.368 NA 6 9 1.06961e-07 1.23978e-07 0.00308 1 0 SETBP1 26040 broad.mit.edu 37 18 42532845 42532845 + Silent SNP C C A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr18:42532845C>A uc010dni.2 + 4 3836 c.3540C>A c.(3538-3540)GGC>GGA p.G1180G NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 1180 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) AAGCCACAGGCTTCTCCAGCC 0.522 NA Schinzel-Giedion_syndrome 9 94 2.27111e-07 2.5883e-07 0.001368 1 0 MUC16 94025 broad.mit.edu 37 19 9045932 9045932 + Missense_Mutation SNP G G A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr19:9045932G>A uc002mkp.2 - 5 35903 c.35699C>T c.(35698-35700)TCT>TTT p.S11900F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 11902 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGAAAGCCCAGAGACAGCAGG 0.502 NA 35 162 0 0 0.004289 0 0 MUC16 94025 broad.mit.edu 37 19 9088208 9088208 + Missense_Mutation SNP G G C TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr19:9088208G>C uc002mkp.2 - 1 3811 c.3607C>G c.(3607-3609)CCA>GCA p.P1203A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1203 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 ATATTACTTGGTGTCAAGGAA 0.478 NA 84 270 0 0 0.00361 0 0 KCNN1 3780 broad.mit.edu 37 19 18096157 18096157 + Silent SNP G G A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr19:18096157G>A uc002nht.2 + 6 1264 c.954G>A c.(952-954)CTG>CTA p.L318L KCNN1_uc010xqa.1_Silent_p.L318L NM_002248 NP_002239 Q92952 KCNN1_HUMAN potassium intermediate/small conductance 318 synaptic transmission voltage-gated potassium channel complex calmodulin binding|small conductance calcium-activated potassium channel activity 0 GCAACTTCCTGGGGGCCATGT 0.592 NA 7 24 0 0 0.001984 0 0 HKR1 284459 broad.mit.edu 37 19 37854370 37854370 + Missense_Mutation SNP G G T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr19:37854370G>T uc002ogb.2 + 6 1942 c.1673G>T c.(1672-1674)TGT>TTT p.C558F HKR1_uc002ofx.2_Missense_Mutation_p.C274F|HKR1_uc002ofy.2_Missense_Mutation_p.C274F|HKR1_uc002oga.2_Missense_Mutation_p.C540F|HKR1_uc010xto.1_Missense_Mutation_p.C540F|HKR1_uc002ogc.2_Missense_Mutation_p.C539F|HKR1_uc010xtp.1_Missense_Mutation_p.C497F|HKR1_uc002ogd.2_Missense_Mutation_p.C497F NM_181786 NP_861451 P10072 HKR1_HUMAN GLI-Kruppel family member HKR1 558 C2H2-type 10. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGCAGGGAGTGTGGCAGAAGG 0.502 NA 15 56 1.3612e-06 1.50916e-06 0.003163 1 0 RYR1 6261 broad.mit.edu 37 19 38985136 38985136 + Missense_Mutation SNP G G T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr19:38985136G>T uc002oit.2 + 39 6549 c.6419G>T c.(6418-6420)CGG>CTG p.R2140L RYR1_uc002oiu.2_Missense_Mutation_p.R2140L|RYR1_uc002oiv.1_5'Flank NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 2140 Cytoplasmic.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GCCCTGCCGCGGGCGTACACC 0.672 NA 13 55 3.99206e-14 5.05826e-14 0.007413 1 0 DYRK1B 9149 broad.mit.edu 37 19 40317399 40317399 + Missense_Mutation SNP C C A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr19:40317399C>A uc002omj.2 - 9 1604 c.1324G>T c.(1324-1326)GGC>TGC p.G442C DYRK1B_uc002omi.2_Missense_Mutation_p.G414C|DYRK1B_uc002omk.2_Missense_Mutation_p.G402C NM_004714 NP_004705 Q9Y463 DYR1B_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 442 positive regulation of transcription, DNA-dependent nucleus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity ovary(4)|stomach(1)|central_nervous_system(1)|skin(1) 7 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) CCTGCCGGGCCCGTGTTGGTG 0.721 NA 4 7 3.59834e-05 3.84325e-05 0.001168 1 0 NLRP12 91662 broad.mit.edu 37 19 54314312 54314312 + Missense_Mutation SNP C C T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr19:54314312C>T uc002qch.3 - 3 821 c.601G>A c.(601-603)GAG>AAG p.E201K NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.E201K|NLRP12_uc002qcj.3_Missense_Mutation_p.E201K|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.E201K NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 201 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) TCGTCTGGCTCAAAGAGGGTC 0.637 NA 40 106 0 0 0.013114 0 0 BRSK1 84446 broad.mit.edu 37 19 55814152 55814152 + Silent SNP G G A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr19:55814152G>A uc002qkg.2 + 10 1222 c.945G>A c.(943-945)CTG>CTA p.L315L BRSK1_uc002qkf.2_Silent_p.L331L|BRSK1_uc002qkh.2_Silent_p.L10L NM_032430 NP_115806 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 315 UBA. establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1) 6 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) ACGGAGAGCTGGACCCCGACG 0.667 NA 29 96 0 0 0.004289 0 0 ZSCAN4 201516 broad.mit.edu 37 19 58190033 58190033 + Missense_Mutation SNP C C A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr19:58190033C>A uc002qpu.2 + 5 1759 c.1062C>A c.(1060-1062)GAC>GAA p.D354E NM_152677 NP_689890 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 354 C2H2-type 2. telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AGATATCAGACCTACGGGTGC 0.443 NA 38 116 7.04047e-22 9.51163e-22 0.005524 1 0 PREPL 9581 broad.mit.edu 37 2 44565618 44565618 + Missense_Mutation SNP T T C TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr2:44565618T>C uc002ruf.2 - 7 1062 c.1027A>G c.(1027-1029)ATG>GTG p.M343V PREPL_uc002rug.2_Missense_Mutation_p.M343V|PREPL_uc002ruh.2_Intron|PREPL_uc010fax.2_Missense_Mutation_p.M343V|PREPL_uc002rui.3_Missense_Mutation_p.M254V|PREPL_uc002ruj.1_Missense_Mutation_p.M254V|PREPL_uc002ruk.1_Missense_Mutation_p.M343V NM_006036 NP_006027 Q4J6C6 PPCEL_HUMAN prolyl endopeptidase-like isoform C 343 proteolysis cytosol serine-type endopeptidase activity ovary(1) 1 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TTTCTCTTCATTGTAAAAAAT 0.358 NA 12 29 0 0 0.001855 0 0 CCDC85A 114800 broad.mit.edu 37 2 56420011 56420011 + Nonsense_Mutation SNP A A T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr2:56420011A>T uc002rzn.2 + 2 1178 c.676A>T c.(676-678)AAG>TAG p.K226* NM_001080433 NP_001073902 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 226 His-rich. breast(3)|ovary(2) 5 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GGACCACCACAAGCACCACGC 0.692 NA 8 27 0 0 0.010729 0 0 SLC4A5 57835 broad.mit.edu 37 2 74492357 74492357 + Missense_Mutation SNP C C T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr2:74492357C>T uc002sko.1 - 4 438 c.436G>A c.(436-438)GGC>AGC p.G146S SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.G146S|SLC4A5_uc010ffc.1_Missense_Mutation_p.G146S|SLC4A5_uc002skp.1_Missense_Mutation_p.G82S|SLC4A5_uc002sks.1_Missense_Mutation_p.G146S NM_021196 NP_067019 Q9BY07 S4A5_HUMAN sodium bicarbonate transporter 4 isoform a 146 Cytoplasmic (Potential). apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 9 CAGCGTTCGCCGCCTTCCTCT 0.607 NA 30 126 0 0 0.007291 0 0 DPP10 57628 broad.mit.edu 37 2 116593780 116593780 + Missense_Mutation SNP G G C TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr2:116593780G>C uc002tla.1 + 22 2455 c.1998G>C c.(1996-1998)AAG>AAC p.K666N DPP10_uc002tlb.1_Missense_Mutation_p.K616N|DPP10_uc002tlc.1_Missense_Mutation_p.K662N|DPP10_uc002tle.2_Missense_Mutation_p.K670N|DPP10_uc002tlf.1_Missense_Mutation_p.K659N NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 666 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 CAGATGAAAAGCTTTTTAAAT 0.303 NA 7 35 0 0 0.004482 0 0 C2orf76 130355 broad.mit.edu 37 2 120097480 120097480 + Missense_Mutation SNP C C T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr2:120097480C>T uc002tls.2 - 3 597 c.56G>A c.(55-57)CGC>CAC p.R19H C2orf76_uc010flf.1_Missense_Mutation_p.R19H|C2orf76_uc010yyg.1_RNA|C2orf76_uc002tlt.2_Missense_Mutation_p.R19H|C2orf76_uc002tlu.2_Missense_Mutation_p.R19H NM_001017927 NP_001017927 Q3KRA6 CB076_HUMAN hypothetical protein LOC130355 19 0 TTTGAAATTGCGATGTTCAAA 0.408 NA 11 94 0 0 0.001855 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125555898 125555898 + Splice_Site SNP G G T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr2:125555898G>T uc002tno.2 + 19 3578 c.3214_splice c.e19+1 p.G1072_splice CNTNAP5_uc010flu.2_Splice_Site_p.G1073_splice NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) TGCAAGAATGGTGAGTGTGAT 0.502 NA 15 42 0.000219431 0.000233146 0.00245 1 0 LOC150786 150786 broad.mit.edu 37 2 132120541 132120541 + Silent SNP G G T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr2:132120541G>T uc002tsr.2 - 1 1191 c.753C>A c.(751-753)GTC>GTA p.V251V NM_001077637 NP_001071105 Q53S08 Q53S08_HUMAN RAB6C-like 251 protein transport|small GTPase mediated signal transduction GTP binding 0 BRCA - Breast invasive adenocarcinoma(221;0.078) ATCTCCACGAGACAGGCAGCA 0.378 NA 18 67 1.2644e-06 1.4095e-06 0.010504 1 0 CCDC148 130940 broad.mit.edu 37 2 159196812 159196812 + Missense_Mutation SNP T T C TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr2:159196812T>C uc002tzq.2 - 5 691 c.428A>G c.(427-429)CAC>CGC p.H143R CCDC148_uc002tzr.2_Intron|CCDC148_uc010foh.2_Intron|CCDC148_uc010foi.1_Missense_Mutation_p.H90R|CCDC148_uc010foj.1_Intron|CCDC148_uc010fok.1_Missense_Mutation_p.H57R|CCDC148_uc002tzs.1_Missense_Mutation_p.H143R NM_138803 NP_620158 Q8NFR7 CC148_HUMAN coiled-coil domain containing 148 143 ovary(2) 2 CTGCAAAGTGTGATGCTGTCT 0.343 NA 18 52 0 0 0.007413 0 0 FAM124B 79843 broad.mit.edu 37 2 225266048 225266048 + Missense_Mutation SNP A A T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr2:225266048A>T uc002vnx.2 - 1 664 c.438T>A c.(436-438)TTT>TTA p.F146L FAM124B_uc002vnw.2_Missense_Mutation_p.F146L NM_001122779 NP_001116251 Q9H5Z6 F124B_HUMAN hypothetical protein LOC79843 isoform a 146 protein binding ovary(2) 2 Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138) Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825) CATAGTTATCAAAACTGCAGT 0.517 NA 35 107 0 0 0.012213 0 0 IFT52 51098 broad.mit.edu 37 20 42265860 42265860 + Nonsense_Mutation SNP G G T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr20:42265860G>T uc002xkw.2 + 12 1209 c.1087G>T c.(1087-1089)GAG>TAG p.E363* IFT52_uc002xky.2_Nonsense_Mutation_p.E363*|IFT52_uc002xkx.2_RNA|IFT52_uc010ggn.2_Nonsense_Mutation_p.E339*|IFT52_uc002xkz.2_Nonsense_Mutation_p.E363* NM_016004 NP_057088 Q9Y366 IFT52_HUMAN intraflagellar transport 52 homolog 363 intraflagellar transport particle B|microtubule-based flagellum protein C-terminus binding ovary(2) 2 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) GTTCTCCTCTGAGAAGGCACG 0.318 NA 20 70 7.33532e-06 7.91749e-06 0.003954 1 0 TOX2 84969 broad.mit.edu 37 20 42574596 42574596 + Missense_Mutation SNP G G T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr20:42574596G>T uc002xlf.3 + 1 61 c.44G>T c.(43-45)CGC>CTC p.R15L TOX2_uc010ggo.2_Intron|TOX2_uc002xle.3_Intron|TOX2_uc010ggp.2_Intron NM_001098798 NP_001092268 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 15 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) GCGTTCTCTCGCTGCCTGGGC 0.542 NA 16 42 4.35082e-09 5.10096e-09 0.010504 1 0 GNAS 2778 broad.mit.edu 37 20 57430246 57430246 + Silent SNP G G A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr20:57430246G>A uc002xzw.2 + 1 2211 c.1926G>A c.(1924-1926)GCG>GCA p.A642A GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA NM_080425 NP_536350 P63092 GNAS2_HUMAN GNAS complex locus XLas Error:Variant_position_missing_in_P63092_after_alignment activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1) 292 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) TACCCCTGGCGGAGAAGCGCA 0.592 Colon(117;935 1597 6045 8307 46442) NA Mis pituitary adenoma McCune-Albright syndrome; pseudohypoparathyroidism|type IA 3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome TSP Lung(22;0.16) 3 16 0 0 0.004672 0 0 OSBPL2 9885 broad.mit.edu 37 20 60861678 60861678 + Missense_Mutation SNP G G A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr20:60861678G>A uc002yck.1 + 11 1238 c.1036G>A c.(1036-1038)GAC>AAC p.D346N OSBPL2_uc002ycl.1_Missense_Mutation_p.D334N|OSBPL2_uc011aah.1_Missense_Mutation_p.D254N NM_144498 NP_653081 Q9H1P3 OSBL2_HUMAN oxysterol-binding protein-like protein 2 isoform 346 lipid transport lipid binding ovary(1)|central_nervous_system(1) 2 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;1.33e-06) CGTGGCTGACGACGTGCCTGT 0.652 NA 46 186 0 0 0.00361 0 0 KRTAP24-1 643803 broad.mit.edu 37 21 31655088 31655088 + Missense_Mutation SNP G G T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr21:31655088G>T uc002ynv.2 - 1 189 c.163C>A c.(163-165)CTC>ATC p.L55I NM_001085455 NP_001078924 Q3LI83 KR241_HUMAN keratin associated protein 24-1 55 keratin filament structural molecule activity 0 AGGAGCCAGAGATTTCCTTGG 0.498 NA 43 113 1.95508e-11 2.38824e-11 0.00361 1 0 AIRE 326 broad.mit.edu 37 21 45713696 45713696 + Missense_Mutation SNP G G A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr21:45713696G>A uc002zei.2 + 11 1430 c.1303G>A c.(1303-1305)GGG>AGG p.G435R AIRE_uc010gpq.2_RNA|AIRE_uc002zej.2_Missense_Mutation_p.G238R|AIRE_uc010gpr.2_Missense_Mutation_p.G238R NM_000383 NP_000374 O43918 AIRE_HUMAN autoimmune regulator isoform 1 435 PHD-type 2. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding skin(1) 1 Colorectal(79;0.0806) TGCGCGTTGCGGGGTGTGCGG 0.706 NA Autoimmune_PolyEndocrinopathy_Candidiasis_Ectodermal_Dystrophy 19 54 0 0 0.00278 0 0 PRMT2 3275 broad.mit.edu 37 21 48068529 48068529 + Missense_Mutation SNP G G A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr21:48068529G>A uc002zjx.2 + 6 801 c.487G>A c.(487-489)GCG>ACG p.A163T PRMT2_uc002zjw.2_Missense_Mutation_p.A163T|PRMT2_uc002zjy.2_Missense_Mutation_p.A163T|PRMT2_uc010gqm.2_Missense_Mutation_p.A163T|PRMT2_uc011aga.1_Missense_Mutation_p.A163T|PRMT2_uc011agb.1_Missense_Mutation_p.A163T|PRMT2_uc011agc.1_Missense_Mutation_p.A163T|PRMT2_uc002zjz.1_Missense_Mutation_p.A49T NM_206962 NP_996845 P55345 ANM2_HUMAN HMT1 hnRNP methyltransferase-like 1 163 Interaction with RB1 (By similarity).|Interaction with ESR1. developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway cytosol|nucleus androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity ovary(1) 1 Breast(49;0.247) Lung NSC(3;0.245) Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248) GCGGCCTAGAGCGGTGAGTGG 0.587 NA 33 130 0 0 0.003271 0 0 RAB36 9609 broad.mit.edu 37 22 23495307 23495307 + Silent SNP C C T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr22:23495307C>T uc002zwv.1 + 5 553 c.513C>T c.(511-513)CCC>CCT p.P171P RAB36_uc010gtw.1_Silent_p.P149P NM_004914 NP_004905 O95755 RAB36_HUMAN RAB36, member RAS oncogene family 171 protein transport|small GTPase mediated signal transduction Golgi membrane GTP binding p.P171S(1) ovary(1)|central_nervous_system(1) 2 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.155) CTGGGATTCCCTATAGCCTCC 0.507 NA 49 191 0 0 0.00361 0 0 MMP11 4320 broad.mit.edu 37 22 24122621 24122621 + Silent SNP C C T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr22:24122621C>T uc002zxx.2 + 3 436 c.414C>T c.(412-414)AGC>AGT p.S138S MMP11_uc002zxy.2_RNA|MMP11_uc002zxz.2_5'Flank NM_005940 NP_005931 P24347 MMP11_HUMAN matrix metalloproteinase 11 preproprotein 138 collagen catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(2)|large_intestine(1) 3 Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318) AGGTATGGAGCGATGTGACGC 0.627 NA 21 70 0 0 0.002299 0 0 MYO18B 84700 broad.mit.edu 37 22 26423541 26423541 + Missense_Mutation SNP C C T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr22:26423541C>T uc003abz.1 + 43 7851 c.7601C>T c.(7600-7602)GCG>GTG p.A2534V MYO18B_uc003aca.1_Missense_Mutation_p.A2415V|MYO18B_uc010guy.1_Missense_Mutation_p.A2416V|MYO18B_uc010guz.1_Missense_Mutation_p.A2414V|MYO18B_uc011aka.1_Missense_Mutation_p.A1688V|MYO18B_uc011akb.1_Missense_Mutation_p.A2047V|MYO18B_uc010gva.1_Missense_Mutation_p.A517V|MYO18B_uc010gvb.1_RNA NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2534 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 CCACGACTTGCGGGTGACGGT 0.577 NA 15 41 0 0 0.00499 0 0 SELM 140606 broad.mit.edu 37 22 31501067 31501067 + Silent SNP C C G TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr22:31501067C>G uc011ali.1 - 6 387 c.327G>C c.(325-327)GTG>GTC p.V109V SELM_uc011alj.1_RNA|INPP5J_uc010gwf.2_5'Flank NM_080430 NP_536355 Q8WWX9 SELM_HUMAN selenoprotein M precursor 109 endoplasmic reticulum|Golgi apparatus|nucleus|perinuclear region of cytoplasm 0 CGAGCTCCTGCACTAGCGCAT 0.692 NA 23 78 0 0 0.009535 0 0 TRANK1 9881 broad.mit.edu 37 3 36898996 36898996 + Missense_Mutation SNP C C A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr3:36898996C>A uc003cgj.2 - 3 737 c.435G>T c.(433-435)TTG>TTT p.L145F NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 695 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 CCTGCTGAATCAAAACTGTGA 0.552 NA 12 56 4.3838e-07 4.96831e-07 0.001855 1 0 PTPN23 25930 broad.mit.edu 37 3 47451187 47451187 + Silent SNP C C T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr3:47451187C>T uc003crf.1 + 19 2088 c.1992C>T c.(1990-1992)GCC>GCT p.A664A PTPN23_uc011baw.1_Silent_p.A629A|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Silent_p.A534A NM_015466 NP_056281 Q9H3S7 PTN23_HUMAN protein tyrosine phosphatase, non-receptor type 664 cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CGTATGAAGCCTATGAGGACC 0.632 NA 9 25 0 0 0.006214 0 0 MST1R 4486 broad.mit.edu 37 3 49927404 49927404 + Silent SNP C C T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr3:49927404C>T uc003cxy.3 - 19 4164 c.3900G>A c.(3898-3900)CTG>CTA p.L1300L MST1R_uc011bdc.1_Silent_p.L179L NM_002447 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor precursor 1300 Cytoplasmic (Potential).|Protein kinase. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding ovary(5)|lung(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) GACCCTGGGCCAGGAAGTGGG 0.473 NA 28 73 0 0 0.012213 0 0 LRTM1 57408 broad.mit.edu 37 3 54958983 54958983 + Silent SNP C C A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr3:54958983C>A uc003dhl.2 - 2 401 c.267G>T c.(265-267)CTG>CTT p.L89L CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron NM_020678 NP_065729 Q9HBL6 LRTM1_HUMAN leucine-rich repeats and transmembrane domains 1 89 Extracellular (Potential).|LRR 2. integral to membrane 0 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) CTCCAGGGGCCAGATTTGAAA 0.443 NA 10 45 5.50884e-06 5.97767e-06 0.001368 1 0 RYBP 23429 broad.mit.edu 37 3 72495721 72495721 + Missense_Mutation SNP G G C TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr3:72495721G>C uc003dpe.2 - 1 171 c.54C>G c.(52-54)AGC>AGG p.S18R NM_012234 NP_036366 Q8N488 RYBP_HUMAN RING1 and YY1 binding protein 28 RanBP2-type. apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding 0 Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232) AGGTGCAGACGCTACAATCCC 0.522 NA 9 27 0 0 0.006214 0 0 ROBO2 6092 broad.mit.edu 37 3 77666743 77666743 + Missense_Mutation SNP G G T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr3:77666743G>T uc003dpy.3 + 22 4016 c.3373G>T c.(3373-3375)GAT>TAT p.D1125Y ROBO2_uc003dpz.2_Missense_Mutation_p.D1129Y|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.D1129Y|ROBO2_uc003dqa.2_Missense_Mutation_p.D252Y NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 1125 Cytoplasmic (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) ACTGGAAGAAGATGATGATAG 0.473 NA 24 73 2.27525e-19 2.99453e-19 0.003954 1 0 TOPBP1 11073 broad.mit.edu 37 3 133362940 133362940 + Missense_Mutation SNP G G A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr3:133362940G>A uc003eps.2 - 11 1904 c.1772C>T c.(1771-1773)GCG>GTG p.A591V NM_007027 NP_008958 Q92547 TOPB1_HUMAN topoisomerase (DNA) II binding protein 1 591 BRCT 4. DNA repair|response to ionizing radiation microtubule organizing center|PML body|spindle pole DNA binding|protein C-terminus binding ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1) 7 AGCATAATCCGCAACAGTTCT 0.413 Ovarian(21;193 658 4424 15423 17362) NA Other_conserved_DNA_damage_response_genes 7 37 0 0 0.00308 0 0 P2RY1 5028 broad.mit.edu 37 3 152553711 152553711 + Missense_Mutation SNP C C T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr3:152553711C>T uc003ezq.2 + 1 976 c.140C>T c.(139-141)ACG>ATG p.T47M NM_002563 NP_002554 P47900 P2RY1_HUMAN purinergic receptor P2Y1 47 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) TTGACCAAGACGGGCTTCCAG 0.597 NA 33 151 0 0 0.003755 0 0 C4orf23 152992 broad.mit.edu 37 4 8470028 8470028 + Missense_Mutation SNP A A T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr4:8470028A>T uc003glg.1 + 9 1383 c.1195A>T c.(1195-1197)ACA>TCA p.T399S C4orf23_uc003glf.1_Missense_Mutation_p.T387S|C4orf23_uc003glh.1_Missense_Mutation_p.T236S NM_152544 NP_689757 Q8IYL2 TRM44_HUMAN hypothetical protein LOC152992 isoform 2 628 tRNA processing cytoplasm methyltransferase activity|nucleic acid binding|zinc ion binding 0 GCAATTAAACACAAGAAGTTC 0.512 NA 10 145 0 0 0.006214 0 0 C1QTNF7 114905 broad.mit.edu 37 4 15444288 15444288 + Silent SNP C C A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr4:15444288C>A uc011bxb.1 + 3 962 c.735C>A c.(733-735)GTC>GTA p.V245V C1QTNF7_uc003gno.2_Silent_p.V252V|C1QTNF7_uc003gnp.2_Silent_p.V245V NM_001135171 NP_001128643 Q9BXJ2 C1QT7_HUMAN C1q and tumor necrosis factor related protein 7 245 C1q. collagen 0 AAGATGAAGTCTGGCTGGAGA 0.493 NA 62 122 2.40655e-23 3.31714e-23 0.00361 1 0 FGFBP1 9982 broad.mit.edu 37 4 15938263 15938263 + Translation_Start_Site SNP G G T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr4:15938263G>T uc003gom.2 - 2 111 c.-7C>A c.(-9--5)AGCTG>AGATG NM_005130 NP_005121 Q14512 FGFP1_HUMAN fibroblast growth factor binding protein 1 cell-cell signaling|negative regulation of cell proliferation|signal transduction extracellular space|plasma membrane heparin binding 0 CATGGCTGCAGCTGGGCGTTC 0.557 NA 40 63 4.67007e-22 6.35129e-22 0.00874 1 0 SLC34A2 10568 broad.mit.edu 37 4 25674865 25674865 + Missense_Mutation SNP C C A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr4:25674865C>A uc003grr.2 + 10 1286 c.1205C>A c.(1204-1206)ACC>AAC p.T402N SLC34A2_uc003grs.2_Missense_Mutation_p.T401N|SLC34A2_uc010iev.2_Missense_Mutation_p.T401N NM_006424 NP_006415 O95436 NPT2B_HUMAN solute carrier family 34 (sodium phosphate), 402 Cytoplasmic (Potential). cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity skin(3)|ovary(1)|kidney(1) 5 Breast(46;0.0503) ATCAAGAAGACCATCAACACT 0.537 NA 26 51 1.37878e-21 1.85047e-21 0.00333 1 0 NDST3 9348 broad.mit.edu 37 4 119059262 119059262 + Silent SNP C C T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr4:119059262C>T uc003ibx.2 + 5 1681 c.1278C>T c.(1276-1278)GGC>GGT p.G426G NDST3_uc011cgf.1_Silent_p.G345G NM_004784 NP_004775 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan 426 Lumenal (Potential).|Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity large_intestine(1) 1 ACCATTCGGGCGTCTACCCTG 0.468 NA 11 98 0 0 0.001855 0 0 DCHS2 54798 broad.mit.edu 37 4 155241865 155241865 + Silent SNP G G T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr4:155241865G>T uc003inw.2 - 14 3321 c.3321C>A c.(3319-3321)ATC>ATA p.I1107I NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 1107 Cadherin 9. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) ATGAGGGGTGGATGAGAAATG 0.443 NA 12 249 7.93312e-07 8.9412e-07 0.00245 1 0 RAPGEF2 9693 broad.mit.edu 37 4 160259617 160259617 + Missense_Mutation SNP C C G TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr4:160259617C>G uc003iqg.3 + 12 2117 c.1807C>G c.(1807-1809)CCT>GCT p.P603A NM_014247 NP_055062 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor 2 603 cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity lung(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) CAGTGCTACTCCTGGTGAGTA 0.363 NA 31 148 0 0 0.003755 0 0 TLL1 7092 broad.mit.edu 37 4 166996110 166996110 + Missense_Mutation SNP C C T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr4:166996110C>T uc003irh.1 + 17 2916 c.2269C>T c.(2269-2271)CGT>TGT p.R757C TLL1_uc011cjn.1_Missense_Mutation_p.R780C|TLL1_uc011cjo.1_Missense_Mutation_p.R581C NM_012464 NP_036596 O43897 TLL1_HUMAN tolloid-like 1 precursor 757 EGF-like 2; calcium-binding (Potential). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) GTGTCAATGCCGTAATGGATT 0.408 NA 28 123 0 0 0.00632 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41045927 41045927 + Missense_Mutation SNP C C A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr5:41045927C>A uc003jmj.3 - 18 2247 c.1757G>T c.(1756-1758)AGT>ATT p.S586I HEATR7B2_uc003jmi.3_Missense_Mutation_p.S141I NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 586 HEAT 7. binding ovary(6)|central_nervous_system(2) 8 GGCCACATCACTGATCTTCCA 0.423 NA 28 105 1.06801e-11 1.3125e-11 0.009535 1 0 MCCC2 64087 broad.mit.edu 37 5 70898367 70898367 + Missense_Mutation SNP G G A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr5:70898367G>A uc003kbs.3 + 5 556 c.418G>A c.(418-420)GTC>ATC p.V140I MCCC2_uc010iyv.1_Missense_Mutation_p.V140I|MCCC2_uc003kbt.3_RNA|MCCC2_uc003kbu.1_Missense_Mutation_p.V9I NM_022132 NP_071415 Q9HCC0 MCCB_HUMAN methylcrotonoyl-Coenzyme A carboxylase 2 (beta) 140 Carboxyltransferase. leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|methylcrotonoyl-CoA carboxylase activity ovary(1) 1 Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.04e-54) Biotin(DB00121) TGATGCCACCGTCAAAGGAGG 0.413 NA 30 123 0 0 0.003755 0 0 KIF4B 285643 broad.mit.edu 37 5 154396120 154396120 + Missense_Mutation SNP A A T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr5:154396120A>T uc010jih.1 + 1 2861 c.2701A>T c.(2701-2703)ATG>TTG p.M901L NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 901 Interaction with PRC1 (By similarity).|Potential. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity ovary(1) 1 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CATGCAGAAGATGCTATTTGA 0.438 NA 21 78 0 0 0.00278 0 0 GABRA6 2559 broad.mit.edu 37 5 161128622 161128622 + Missense_Mutation SNP T T C TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr5:161128622T>C uc003lyu.2 + 9 1543 c.1205T>C c.(1204-1206)GTC>GCC p.V402A GABRA6_uc003lyv.2_Missense_Mutation_p.V173A NM_000811 NP_000802 Q16445 GBRA6_HUMAN gamma-aminobutyric acid A receptor, alpha 6 402 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TCAACACCTGTCACACCCCCA 0.473 NA TCGA Ovarian(5;0.080) 16 52 0 0 0.003954 0 0 GMPR 2766 broad.mit.edu 37 6 16254908 16254908 + Missense_Mutation SNP A A T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr6:16254908A>T uc003nbs.2 + 4 521 c.407A>T c.(406-408)GAA>GTA p.E136V NM_006877 NP_006868 P36959 GMPR1_HUMAN guanosine monophosphate reductase 136 nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold cytosol GMP reductase activity|metal ion binding ovary(1) 1 Breast(50;0.0427)|Ovarian(93;0.103) all_hematologic(90;0.0895) GGGTATTCAGAACATTTTGTG 0.443 NA 52 195 0 0 0.00361 0 0 TTBK1 84630 broad.mit.edu 37 6 43250827 43250827 + Silent SNP G G T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr6:43250827G>T uc003ouq.1 + 14 2628 c.2349G>T c.(2347-2349)GGG>GGT p.G783G NM_032538 NP_115927 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 783 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 9 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) AGGTGCTGGGGCCTCGTAGTG 0.448 NA 3 5 0.004672 0.00483801 0.004672 1 0 GCLC 2729 broad.mit.edu 37 6 53380938 53380938 + Missense_Mutation SNP C C A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr6:53380938C>A uc003pbw.1 - 4 917 c.529G>T c.(529-531)GAT>TAT p.D177Y GCLC_uc003pbx.2_Missense_Mutation_p.D177Y NM_001498 NP_001489 P48506 GSH1_HUMAN glutamate-cysteine ligase, catalytic subunit 177 anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process cytosol ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding ovary(1)|central_nervous_system(1) 2 Lung NSC(77;0.0137) L-Cysteine(DB00151)|L-Glutamic Acid(DB00142) ATTGCTTCATCTGGAAAGAAG 0.473 NA 26 66 6.32553e-13 7.96548e-13 0.004656 1 0 FAM83B 222584 broad.mit.edu 37 6 54735197 54735197 + Silent SNP A A T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr6:54735197A>T uc003pck.2 + 2 269 c.153A>T c.(151-153)CGA>CGT p.R51R NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN hypothetical protein LOC222584 51 ovary(6) 6 Lung NSC(77;0.0178)|Renal(3;0.122) TCCAGGAACGAGTTTCAGACT 0.388 NA 25 99 0 0 0.004656 0 0 HTR1E 3354 broad.mit.edu 37 6 87726137 87726137 + Missense_Mutation SNP G G A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr6:87726137G>A uc003pli.2 + 2 1788 c.1085G>A c.(1084-1086)CGA>CAA p.R362Q NM_000865 NP_000856 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E 362 Cytoplasmic (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity ovary(2)|skin(1) 3 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) ATTAGATGCCGAGAGCATACT 0.413 NA 28 101 0 0 0.007291 0 0 GABRR1 2569 broad.mit.edu 37 6 89907932 89907932 + Missense_Mutation SNP A A G TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr6:89907932A>G uc003pna.2 - 5 834 c.379T>C c.(379-381)TAC>CAC p.Y127H GABRR1_uc011dzv.1_Missense_Mutation_p.Y104H NM_002042 NP_002033 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) receptor, rho 1 127 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity pancreas(1) 1 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) TCCTTCCAGTAGTGCCTCAGG 0.537 NA 94 324 0 0 0.00361 0 0 DSE 29940 broad.mit.edu 37 6 116757636 116757636 + Missense_Mutation SNP A A G rs145999978 TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr6:116757636A>G uc003pws.2 + 6 2199 c.2005A>G c.(2005-2007)ATA>GTA p.I669V DSE_uc011ebg.1_Missense_Mutation_p.I688V|DSE_uc003pwt.2_Missense_Mutation_p.I669V|DSE_uc003pwu.2_Missense_Mutation_p.I336V NM_001080976 NP_001074445 Q9UL01 DSE_HUMAN dermatan sulfate epimerase precursor 669 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity ovary(1) 1 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) AGGGCCATCTATAGATGTTCA 0.517 NA 20 76 0 0 0.012319 0 0 SLC35F1 222553 broad.mit.edu 37 6 118556737 118556737 + Missense_Mutation SNP G G A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr6:118556737G>A uc003pxx.3 + 3 616 c.415G>A c.(415-417)GAC>AAC p.D139N NM_001029858 NP_001025029 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 139 Helical; (Potential). transport integral to membrane breast(1) 1 GBM - Glioblastoma multiforme(226;0.217) GGGACTCATAGACCTGGAAGC 0.423 NA 21 75 0 0 0.002299 0 0 ENPP3 5169 broad.mit.edu 37 6 132006597 132006597 + Missense_Mutation SNP G G T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr6:132006597G>T uc003qcu.3 + 14 1561 c.1214G>T c.(1213-1215)CGC>CTC p.R405L ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Missense_Mutation_p.R405L NM_005021 NP_005012 O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 405 Extracellular (Potential).|Phosphodiesterase. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity ovary(3)|skin(1) 4 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) CCTGCCCCCCGCATCCGAGCT 0.378 NA 51 181 4.6707e-30 6.6631e-30 0.00361 1 0 TNFAIP3 7128 broad.mit.edu 37 6 138199659 138199659 + Missense_Mutation SNP C C A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr6:138199659C>A uc003qhr.2 + 7 1143 c.1077C>A c.(1075-1077)AAC>AAA p.N359K TNFAIP3_uc003qhs.2_Missense_Mutation_p.N359K NM_006290 NP_006281 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 359 anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(22) haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1) 137 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) GGCAGGAAAACAGCGAGCAGG 0.478 GBM(130;153 1739 22295 28918 47987) NA D|N|F marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma 6 97 0.00448238 0.00466534 0.004482 1 0 GET4 51608 broad.mit.edu 37 7 931971 931971 + Missense_Mutation SNP A A T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr7:931971A>T uc003sjl.1 + 6 754 c.662A>T c.(661-663)CAG>CTG p.Q221L GET4_uc003sjj.1_RNA NM_015949 NP_057033 Q7L5D6 GET4_HUMAN hypothetical protein LOC51608 221 tail-anchored membrane protein insertion into ER membrane|transport BAT3 complex protein binding 0 ACGTACACCCAGAAGCACCCG 0.552 NA 35 119 0 0 0.004878 0 0 SNX13 23161 broad.mit.edu 37 7 17885294 17885294 + Silent SNP T T A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr7:17885294T>A uc003stw.1 - 12 1302 c.1089A>T c.(1087-1089)GCA>GCT p.A363A SNX13_uc003stv.2_Silent_p.A363A|SNX13_uc010kuc.2_Silent_p.A160A Q9Y5W8 SNX13_HUMAN SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g; 363 cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity early endosome membrane phosphatidylinositol binding|signal transducer activity central_nervous_system(2)|kidney(1) 3 Lung NSC(10;0.0261)|all_lung(11;0.0521) CAAAGTTTGCTGCAAGTTTCA 0.313 NA 6 9 0 0 0.001168 0 0 ADCY1 107 broad.mit.edu 37 7 45614391 45614391 + Silent SNP G G C TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr7:45614391G>C uc003tne.3 + 1 267 c.249G>C c.(247-249)GCG>GCC p.A83A ADCY1_uc003tnd.2_Intron NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 83 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) TGCTgggcgcgccggggcccg 0.622 NA 6 13 0 0 0.001984 0 0 AUTS2 26053 broad.mit.edu 37 7 70254903 70254903 + Missense_Mutation SNP C C T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr7:70254903C>T uc003tvw.3 + 19 3444 c.2701C>T c.(2701-2703)CGC>TGC p.R901C AUTS2_uc003tvx.3_Missense_Mutation_p.R877C|AUTS2_uc011keg.1_Missense_Mutation_p.R353C NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 isoform 1 901 ovary(2)|central_nervous_system(1) 3 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) CTCGGAATCCCGCAAGGACCT 0.647 NA 8 37 0 0 0.008291 0 0 TMEM168 64418 broad.mit.edu 37 7 112424368 112424368 + Silent SNP A A G TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr7:112424368A>G uc003vgn.2 - 2 905 c.513T>C c.(511-513)ACT>ACC p.T171T TMEM168_uc010lju.2_Silent_p.T171T|TMEM168_uc011kmr.1_Intron NM_022484 NP_071929 Q9H0V1 TM168_HUMAN transmembrane protein 168 171 integral to membrane|transport vesicle ovary(1)|central_nervous_system(1) 2 CCACCAACATAGTTGTGCTGG 0.423 NA 23 47 0 0 0.00278 0 0 MET 4233 broad.mit.edu 37 7 116380037 116380037 + Missense_Mutation SNP C C T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr7:116380037C>T uc003vij.2 + 4 1613 c.1426C>T c.(1426-1428)CAT>TAT p.H476Y MET_uc010lkh.2_Missense_Mutation_p.H476Y|MET_uc011knc.1_Missense_Mutation_p.H476Y|MET_uc011knd.1_Missense_Mutation_p.H476Y|MET_uc011kne.1_Missense_Mutation_p.H476Y|MET_uc011knf.1_Missense_Mutation_p.H476Y|MET_uc011kng.1_Missense_Mutation_p.H476Y|MET_uc011knh.1_Missense_Mutation_p.H476Y|MET_uc011kni.1_Missense_Mutation_p.H476Y|MET_uc011knj.1_Missense_Mutation_p.H46Y|MET_uc011kna.1_Missense_Mutation_p.H476Y|MET_uc011knb.1_Missense_Mutation_p.H476Y NM_000245 NP_000236 P08581 MET_HUMAN met proto-oncogene isoform b precursor 476 Extracellular (Potential).|Sema. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1) 159 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) ATCAACCCCTCATGTGAATTT 0.398 NA Mis papillary renal|head-neck squamous cell papillary renal Hereditary_Papillary_Renal_Carcinoma_(type_1) 35 191 0 0 0.00623 0 0 PIP 5304 broad.mit.edu 37 7 142836664 142836664 + Missense_Mutation SNP C C A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr7:142836664C>A uc003wcf.1 + 4 406 c.370C>A c.(370-372)CCT>ACT p.P124T NM_002652 NP_002643 P12273 PIP_HUMAN prolactin-induced protein precursor 124 extracellular region actin binding ovary(1) 1 Melanoma(164;0.059) Ovarian(593;2.82e-05)|Breast(660;0.012) BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08) AGGCATCTGCCCTGATGATGC 0.468 NA 66 272 1.37693e-34 1.97813e-34 0.00361 1 0 ANGPT2 285 broad.mit.edu 37 8 6378821 6378821 + Missense_Mutation SNP A A T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr8:6378821A>T uc003wqj.3 - 4 1006 c.677T>A c.(676-678)ATC>AAC p.I226N MCPH1_uc003wqi.2_Intron|ANGPT2_uc003wqk.3_Missense_Mutation_p.I226N|ANGPT2_uc010lri.2_Missense_Mutation_p.I174N|ANGPT2_uc003wql.3_Missense_Mutation_p.I226N NM_001147 NP_001138 O15123 ANGP2_HUMAN angiopoietin 2 isoform a precursor 226 Potential. angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway extracellular space metal ion binding|receptor tyrosine kinase binding upper_aerodigestive_tract(1) 1 Hepatocellular(245;0.0663) Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226) TTCTTCAATGATGGAATTTTG 0.373 NA 32 116 0 0 0.012213 0 0 SGCZ 137868 broad.mit.edu 37 8 13948039 13948039 + Silent SNP G G A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr8:13948039G>A uc003wwq.2 - 8 1512 c.852C>T c.(850-852)TGC>TGT p.C284C SGCZ_uc010lss.2_Silent_p.C237C NM_139167 NP_631906 Q96LD1 SGCZ_HUMAN sarcoglycan zeta 271 Extracellular (Potential). cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma ovary(2)|central_nervous_system(1) 3 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) TGGGGCAGACGCAGAGTTCAT 0.483 NA 19 81 0 0 0.008871 0 0 C8orf41 80185 broad.mit.edu 37 8 33361291 33361291 + Missense_Mutation SNP T T C TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr8:33361291T>C uc003xjl.3 - 4 1615 c.1090A>G c.(1090-1092)AGA>GGA p.R364G C8orf41_uc003xjk.3_Missense_Mutation_p.R333G|C8orf41_uc010lvv.2_Intron|C8orf41_uc003xjm.3_Missense_Mutation_p.R364G|C8orf41_uc003xjn.1_Missense_Mutation_p.R364G NM_025115 NP_079391 Q6NXR4 CH041_HUMAN hypothetical protein LOC80185 364 binding 0 KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111) GGCAGGTTTCTTGCGTAGGTC 0.418 NA 9 30 0 0 0.006214 0 0 POLB 5423 broad.mit.edu 37 8 42196548 42196548 + Missense_Mutation SNP A A G TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr8:42196548A>G uc003xoz.1 + 2 193 c.80A>G c.(79-81)AAG>AGG p.K27R POLB_uc003xpa.1_Missense_Mutation_p.K27R|POLB_uc011lcs.1_Intron NM_002690 NP_002681 P06746 DPOLB_HUMAN DNA-directed DNA polymerase beta 27 DNA-dependent DNA replication cytoplasm|nucleoplasm|spindle microtubule DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding ovary(1)|breast(1) 2 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211) all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024) Cytarabine(DB00987) AACTTTGAGAAGAACGTGAGC 0.483 NA DNA_polymerases_(catalytic_subunits) 12 39 0 0 0.003163 0 0 CHRNA6 8973 broad.mit.edu 37 8 42612132 42612132 + Missense_Mutation SNP T T G TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr8:42612132T>G uc003xpj.2 - 4 359 c.313A>C c.(313-315)ATT>CTT p.I105L CHRNA6_uc011lcw.1_Missense_Mutation_p.I90L NM_004198 NP_004189 Q15825 ACHA6_HUMAN cholinergic receptor, nicotinic, alpha 6 105 Extracellular. cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869) AGAGTCTCAATGCCATCATAT 0.373 NA 35 155 0 0 0.005524 0 0 PSKH2 85481 broad.mit.edu 37 8 87076326 87076326 + Silent SNP G G A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr8:87076326G>A uc011lfy.1 - 2 720 c.720C>T c.(718-720)ACC>ACT p.T240T NM_033126 NP_149117 Q96QS6 KPSH2_HUMAN protein serine kinase H2 240 Protein kinase. ATP binding|protein serine/threonine kinase activity stomach(2)|lung(2)|ovary(1) 5 STAD - Stomach adenocarcinoma(118;0.129) CCACTGCACTGGTATAAGGCT 0.473 NA 27 98 0 0 0.00632 0 0 UTP23 84294 broad.mit.edu 37 8 117783936 117783936 + Missense_Mutation SNP C C T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr8:117783936C>T uc003yoc.2 + 3 706 c.605C>T c.(604-606)CCC>CTC p.P202L NM_032334 NP_115710 Q9BRU9 UTP23_HUMAN UTP23, small subunit (SSU) processome component, 202 rRNA processing nucleolus 0 ATAAGTGGTCCCAATCCTCTT 0.363 NA 18 51 0 0 0.007413 0 0 TRMT12 55039 broad.mit.edu 37 8 125464025 125464025 + Missense_Mutation SNP G G A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr8:125464025G>A uc003yra.3 + 1 978 c.857G>A c.(856-858)CGG>CAG p.R286Q NM_017956 NP_060426 Q53H54 TYW2_HUMAN homolog of yeast tRNA methyltransferase 12 286 tRNA processing methyltransferase activity upper_aerodigestive_tract(1) 1 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) GTAGCAGATCGGTGCCAAATA 0.483 NA 54 182 0 0 0.00361 0 0 RFX3 5991 broad.mit.edu 37 9 3257077 3257077 + Silent SNP C C A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr9:3257077C>A uc003zhr.2 - 15 2040 c.1728G>T c.(1726-1728)GTG>GTT p.V576V RFX3_uc010mhd.2_Silent_p.V576V|RFX3_uc003zhs.1_Silent_p.V576V NM_134428 NP_602304 P48380 RFX3_HUMAN regulatory factor X3 isoform b 576 cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion nuclear chromatin protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337) CTTGCATCATCACATTGTCAA 0.473 NA 59 96 1.80625e-27 2.55886e-27 0.00361 1 0 RANBP6 26953 broad.mit.edu 37 9 6013371 6013371 + Missense_Mutation SNP C C T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr9:6013371C>T uc003zjr.2 - 1 2248 c.2237G>A c.(2236-2238)GGC>GAC p.G746D RANBP6_uc011lmf.1_Missense_Mutation_p.G394D|RANBP6_uc003zjs.2_Missense_Mutation_p.G334D NM_012416 NP_036548 O60518 RNBP6_HUMAN RAN binding protein 6 746 protein transport cytoplasm|nucleus binding ovary(3) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) ATACTCTGGGCCACGAATTCT 0.423 NA 49 49 0 0 0.00361 0 0 TRPM3 80036 broad.mit.edu 37 9 73225623 73225623 + Missense_Mutation SNP C C T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr9:73225623C>T uc004aid.2 - 18 2777 c.2533G>A c.(2533-2535)GAT>AAT p.D845N TRPM3_uc004ahu.2_Missense_Mutation_p.D675N|TRPM3_uc004ahv.2_Missense_Mutation_p.D647N|TRPM3_uc004ahw.2_Missense_Mutation_p.D717N|TRPM3_uc004ahx.2_Missense_Mutation_p.D704N|TRPM3_uc004ahy.2_Missense_Mutation_p.D707N|TRPM3_uc004ahz.2_Missense_Mutation_p.D694N|TRPM3_uc004aia.2_Missense_Mutation_p.D692N|TRPM3_uc004aib.2_Missense_Mutation_p.D682N|TRPM3_uc004aic.2_Missense_Mutation_p.D845N NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 870 Extracellular (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 TCCTCTTCATCCTTCTTCCTG 0.398 NA 26 141 0 0 0.008361 0 0 IL3RA 3563 broad.mit.edu 37 X 1471347 1471347 + Silent SNP C C T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chrX:1471347C>T uc004cps.2 + 6 913 c.564C>T c.(562-564)AGC>AGT p.S188S IL3RA_uc011mhd.1_Silent_p.S110S NM_002183 NP_002174 P26951 IL3RA_HUMAN interleukin 3 receptor, alpha precursor 188 Extracellular (Potential). integral to membrane|plasma membrane interleukin-3 receptor activity skin(2)|lung(1) 3 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) GGGGCAGGAGCGCAGCCTTCG 0.552 NA 4 146 0 0 0.009096 0 0 NHS 4810 broad.mit.edu 37 X 17745407 17745407 + Missense_Mutation SNP T T C TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chrX:17745407T>C uc004cxx.2 + 6 3456 c.3118T>C c.(3118-3120)TCC>CCC p.S1040P NHS_uc011mix.1_Missense_Mutation_p.S1061P|NHS_uc004cxy.2_Missense_Mutation_p.S884P|NHS_uc004cxz.2_Missense_Mutation_p.S863P|NHS_uc004cya.2_Missense_Mutation_p.S763P NM_198270 NP_938011 Q6T4R5 NHS_HUMAN Nance-Horan syndrome protein isoform 1 1040 nucleus skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 Hepatocellular(33;0.183) AGAAAGAAAATCCTCACTACA 0.423 NA 3 109 0 0 0.009096 0 0 FAM47B 170062 broad.mit.edu 37 X 34961502 34961502 + Missense_Mutation SNP G G C TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chrX:34961502G>C uc004ddi.1 + 1 572 c.554G>C c.(553-555)GGG>GCG p.G185A NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 185 ovary(3)|breast(1) 4 TATCCCTGTGGGGAATCCTGC 0.642 NA 6 17 0 0 0.004482 0 0 CXorf22 170063 broad.mit.edu 37 X 35974187 35974187 + Silent SNP A A G TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chrX:35974187A>G uc004ddj.2 + 8 1343 c.1284A>G c.(1282-1284)GAA>GAG p.E428E CXorf22_uc010ngv.2_RNA NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN hypothetical protein LOC170063 428 large_intestine(1)|lung(1)|ovary(1) 3 TCATGGGTGAACGTTCAGAAA 0.363 NA 23 46 0 0 0.00278 0 0 RBM10 8241 broad.mit.edu 37 X 47032557 47032557 + Nonsense_Mutation SNP C C T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chrX:47032557C>T uc004dhf.2 + 5 842 c.463C>T c.(463-465)CAA>TAA p.Q155* RBM10_uc004dhe.1_Nonsense_Mutation_p.Q145*|RBM10_uc004dhg.2_Nonsense_Mutation_p.Q78*|RBM10_uc004dhh.2_Nonsense_Mutation_p.Q155*|RBM10_uc010nhq.2_Nonsense_Mutation_p.Q78*|RBM10_uc004dhi.2_Nonsense_Mutation_p.Q220* NM_005676 NP_005667 P98175 RBM10_HUMAN RNA binding motif protein 10 isoform 1 155 RRM 1. mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1) 5 GCACGGCGTGCAAGCACGGGA 0.602 Melanoma(171;120 2705 19495 39241) NA 9 28 0 0 0.008291 0 0 RGAG1 57529 broad.mit.edu 37 X 109693957 109693957 + Missense_Mutation SNP G G C TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chrX:109693957G>C uc004eor.1 + 3 358 c.112G>C c.(112-114)GAC>CAC p.D38H RGAG1_uc011msr.1_Missense_Mutation_p.D38H NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 38 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 GACCAGAGCAGACGTACAGAT 0.463 NA OREG0019909 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 81 119 0 0 0.00361 0 0 RGAG1 57529 broad.mit.edu 37 X 109696066 109696066 + Missense_Mutation SNP G G T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chrX:109696066G>T uc004eor.1 + 3 2467 c.2221G>T c.(2221-2223)GCT>TCT p.A741S RGAG1_uc011msr.1_Missense_Mutation_p.A741S NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 741 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 GTCCATGACCGCTGGAGGGAT 0.512 NA 37 68 1.49673e-21 1.99564e-21 0.00623 1 0 MCF2 4168 broad.mit.edu 37 X 138687138 138687138 + Nonsense_Mutation SNP A A C TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chrX:138687138A>C uc004fau.2 - 14 1857 c.1563T>G c.(1561-1563)TAT>TAG p.Y521* MCF2_uc004fav.2_Nonsense_Mutation_p.Y537*|MCF2_uc011mwl.1_Nonsense_Mutation_p.Y498*|MCF2_uc010nsh.1_Nonsense_Mutation_p.Y521*|MCF2_uc011mwm.1_Nonsense_Mutation_p.Y482*|MCF2_uc011mwn.1_Nonsense_Mutation_p.Y666*|MCF2_uc004faw.2_Nonsense_Mutation_p.Y581*|MCF2_uc011mwo.1_Nonsense_Mutation_p.Y597* NM_005369 NP_005360 P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 521 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity lung(1)|pleura(1) 2 Acute lymphoblastic leukemia(192;0.000127) TCTCCGCTCTATAACCCTACC 0.353 NA 20 23 0 0 0.010504 0 0 UTY 7404 broad.mit.edu 37 Y 15467250 15467250 + Missense_Mutation SNP C C G TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chrY:15467250C>G uc004fsx.1 - 15 2408 c.1403G>C c.(1402-1404)CGA>CCA p.R468P UTY_uc004fsw.1_Missense_Mutation_p.R131P|UTY_uc010nwx.1_5'UTR|UTY_uc004fsy.2_Missense_Mutation_p.R468P|UTY_uc004fsz.2_Missense_Mutation_p.R468P NM_007125 NP_009056 O14607 UTY_HUMAN tetratricopeptide repeat protein isoform 3 468 chromatin modification nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 TCCAGTAGTTCGTACCTGAGC 0.383 Colon(103;1740 2135 40732 45171) NA 5 25 0 0 0.004482 0 0 RIMBP2 23504 broad.mit.edu 37 12 130912881 130912881 + Frame_Shift_Del DEL G G - TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr12:130912881delG uc001uil.2 - 12 2368 c.2204delC c.(2203-2205)CCGfs p.P735fs NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 735 cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) GCAACAGTGCGGCTGGGGGCC 0.587 NA 27 100 --- --- --- --- NA NA NA NA NA DHODH 1723 broad.mit.edu 37 16 72050929 72050931 + In_Frame_Del DEL ATT ATT - TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 ATT ATT - - ATT ATT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr16:72050929_72050931delATT uc002fbp.2 + 4 462_464 c.441_443delATT c.(439-444)GGATTT>GGT p.F148del DHODH_uc010cgk.2_RNA NM_001361 NP_001352 Q02127 PYRD_HUMAN dihydroorotate dehydrogenase precursor 148 Mitochondrial intermembrane (By similarity).|Substrate binding. 'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process integral to membrane|mitochondrial inner membrane dihydroorotate oxidase activity 0 Ovarian(137;0.125) Atovaquone(DB01117)|Leflunomide(DB01097) GCAGGTATGGATTTAACAGTCAC 0.512 NA 22 79 --- --- --- --- NA NA NA NA NA HSDL1 83693 broad.mit.edu 37 16 84164817 84164818 + Frame_Shift_Ins INS - - T TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr16:84164817_84164818insT uc002fhk.2 - 3 293_294 c.109_110insA c.(109-111)AGCfs p.S37fs HSDL1_uc010vnv.1_Frame_Shift_Ins_p.S37fs NM_031463 NP_113651 Q3SXM5 HSDL1_HUMAN hydroxysteroid dehydrogenase like 1 isoform a 37 Required for mitochondria translocation. mitochondrion oxidoreductase activity|protein binding 0 GACAGTGATGCTTTTTCTGGCC 0.49 NA 36 153 --- --- --- --- NA NA NA NA NA ZNF831 128611 broad.mit.edu 37 20 57766823 57766823 + Frame_Shift_Del DEL C C - TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr20:57766823delC uc002yan.2 + 1 749 c.749delC c.(748-750)GCCfs p.A250fs NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 250 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) TCTCCGGGTGCCCACGTGCCC 0.667 NA 35 121 --- --- --- --- NA NA NA NA NA HS3ST5 222537 broad.mit.edu 37 6 114379073 114379075 + In_Frame_Del DEL TCA TCA - TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 TCA TCA - - TCA TCA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr6:114379073_114379075delTCA uc003pwg.3 - 2 419_421 c.387_389delTGA c.(385-390)GATGAG>GAG p.D129del uc003pwf.2_Intron|HS3ST5_uc003pwh.3_In_Frame_Del_p.D129del NM_153612 NP_705840 Q8IZT8 HS3S5_HUMAN heparan sulfate (glucosamine) 129 Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding ovary(1)|pancreas(1) 2 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) ACCATAATTCTCATCATTATCAA 0.429 NA 39 256 --- --- --- --- NA NA NA NA NA TAAR5 9038 broad.mit.edu 37 6 132910150 132910151 + Frame_Shift_Ins INS - - A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr6:132910150_132910151insA uc003qdk.2 - 1 727_728 c.675_676insT c.(673-678)GTTGCTfs p.V225fs NM_003967 NP_003958 O14804 TAAR5_HUMAN trace amine associated receptor 5 225_226 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity skin(1) 1 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015) TGTCTGGTAGCAACCACAAAGA 0.5 NA 17 104 --- --- --- --- NA NA NA NA NA SYNE1 23345 broad.mit.edu 37 6 152557353 152557353 + Frame_Shift_Del DEL C C - TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr6:152557353delC uc010kiw.2 - 110 20887 c.20285delG c.(20284-20286)TGCfs p.C6762fs SYNE1_uc010kiv.2_Frame_Shift_Del_p.C1286fs|SYNE1_uc003qos.3_Frame_Shift_Del_p.C1286fs|SYNE1_uc003qot.3_Frame_Shift_Del_p.C6691fs|SYNE1_uc003qou.3_Frame_Shift_Del_p.C6762fs NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6762 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TAGATCTGAGCAGCTGATGGA 0.343 NA HNSCC(10;0.0054) 42 123 --- --- --- --- NA NA NA NA NA MYST3 7994 broad.mit.edu 37 8 41798420 41798422 + In_Frame_Del DEL CTC CTC - TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 CTC CTC - - CTC CTC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f a17b5d32-f570-4d2d-9e97-f8b01de1be9f g.chr8:41798420_41798422delCTC uc010lxb.2 - 16 3521_3523 c.2977_2979delGAG c.(2977-2979)GAGdel p.E993del MYST3_uc010lxc.2_In_Frame_Del_p.E993del|MYST3_uc003xon.3_In_Frame_Del_p.E993del NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 993 Poly-Glu. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171) GGCTTTCCGGCTCCTCCTCCTCC 0.567 NA 8 285 --- --- --- --- NA NA NA NA NA