Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values HS2ST1 9653 broad.mit.edu 37 1 87570372 87570372 + Missense_Mutation SNP C C G TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr1:87570372C>G uc010osk.1 + 7 1449 c.1064C>G c.(1063-1065)TCG>TGG p.S355W LOC339524_uc001dme.1_Intron NM_012262 NP_036394 Q7LGA3 HS2ST_HUMAN heparan sulfate 2-O-sulfotransferase 1 isoform 355 Lumenal (Potential). Golgi membrane|integral to membrane central_nervous_system(1) 1 Lung NSC(277;0.153) all cancers(265;0.00699)|Epithelial(280;0.0261) TACCCTAAGTCGAACTGAGTA 0.423000 FLG 2312 broad.mit.edu 37 1 152280076 152280076 + Missense_Mutation SNP C C T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr1:152280076C>T uc001ezu.1 - 3 7322 c.7286G>A c.(7285-7287)GGA>GAA p.G2429E NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2429 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) CCCGGTCCGTCCATGGGCGGA 0.592000 Ichthyosis FLG 2312 broad.mit.edu 37 1 152281163 152281163 + Missense_Mutation SNP G G T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr1:152281163G>T uc001ezu.1 - 3 6235 c.6199C>A c.(6199-6201)CCC>ACC p.P2067T NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2067 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) TGCTGATGGGGCCCAGCTTTT 0.562000 Ichthyosis DARC 2532 broad.mit.edu 37 1 159175316 159175316 + Silent SNP C C A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr1:159175316C>A uc001fto.2 + 2 327 c.87C>A c.(85-87)TCC>TCA p.S29S DARC_uc001ftp.3_Silent_p.S31S NM_002036 NP_002027 Q16570 DUFFY_HUMAN Duffy blood group antigen isoform b 29 Extracellular (Potential). defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity ovary(1)|lung(1) 2 all_hematologic(112;0.0429) GGAATTCTTCCTATGGTGTGA 0.537000 KIAA1614 57710 broad.mit.edu 37 1 180885845 180885845 + Silent SNP G G A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr1:180885845G>A uc001gok.2 + 2 673 c.606G>A c.(604-606)CTG>CTA p.L202L NM_020950 NP_066001 Q5VZ46 K1614_HUMAN hypothetical protein LOC57710 202 ovary(3)|skin(1) 4 GAGGTCCGCTGCTGGGGCCCA 0.612000 RYR2 6262 broad.mit.edu 37 1 237947621 237947621 + Silent SNP G G T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr1:237947621G>T uc001hyl.1 + 90 12729 c.12609G>T c.(12607-12609)GCG>GCT p.A4203A RYR2_uc010pya.1_Silent_p.A618A NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4203 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGCAGCTGGCGGCTCAGATCT 0.517000 YME1L1 10730 broad.mit.edu 37 10 27400956 27400956 + Missense_Mutation SNP C C G TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr10:27400956C>G uc001iti.2 - 20 2454 c.2272G>C c.(2272-2274)GCC>CCC p.A758P YME1L1_uc001itj.2_Missense_Mutation_p.A701P|YME1L1_uc010qdl.1_Missense_Mutation_p.A668P|YME1L1_uc009xkv.2_RNA NM_139312 NP_647473 Q96TA2 YMEL1_HUMAN YME1-like 1 isoform 1 758 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity ovary(1) 1 ATCTCTTTGGCATCCAAAGTC 0.373000 JMJD1C 221037 broad.mit.edu 37 10 64967507 64967507 + Missense_Mutation SNP G G A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr10:64967507G>A uc001jmn.2 - 10 4222 c.3922C>T c.(3922-3924)CGT>TGT p.R1308C JMJD1C_uc001jml.2_Missense_Mutation_p.R1089C|JMJD1C_uc001jmm.2_Missense_Mutation_p.R1020C|JMJD1C_uc010qiq.1_Missense_Mutation_p.R1126C|JMJD1C_uc009xpi.2_Missense_Mutation_p.R1126C|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Missense_Mutation_p.R345C NM_032776 NP_116165 Q15652 JHD2C_HUMAN jumonji domain containing 1C isoform a 1308 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding ovary(4)|breast(1)|central_nervous_system(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) GAAGATGGACGCACAATGACA 0.423000 NT5C2 22978 broad.mit.edu 37 10 104859733 104859733 + Missense_Mutation SNP G G A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr10:104859733G>A uc001kwo.2 - 9 769 c.583C>T c.(583-585)CGG>TGG p.R195W NT5C2_uc010qqp.1_Missense_Mutation_p.R166W|NT5C2_uc001kwq.2_Missense_Mutation_p.R195W|NT5C2_uc001kwp.2_Missense_Mutation_p.R42W NM_012229 NP_036361 P49902 5NTC_HUMAN 5'-nucleotidase, cytosolic II 195 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding 0 all_hematologic(284;0.176)|Colorectal(252;0.178) Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159) Adenosine triphosphate(DB00171)|Ribavirin(DB00811) AACATACTCCGGTAGGACATG 0.393000 TDRD1 56165 broad.mit.edu 37 10 115963311 115963311 + Missense_Mutation SNP G G C TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr10:115963311G>C uc001lbg.1 + 8 1119 c.966G>C c.(964-966)AAG>AAC p.K322N TDRD1_uc001lbf.2_Missense_Mutation_p.K313N|TDRD1_uc001lbh.1_Missense_Mutation_p.K313N|TDRD1_uc001lbi.1_Missense_Mutation_p.K313N|TDRD1_uc010qsc.1_Missense_Mutation_p.K31N|TDRD1_uc001lbj.2_Missense_Mutation_p.K31N NM_198795 NP_942090 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 322 Tudor 1. DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding 0 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) GTATTGCCAAGTACACTGTTG 0.353000 TCERG1L 256536 broad.mit.edu 37 10 132944909 132944909 + Missense_Mutation SNP G G A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr10:132944909G>A uc001lkp.2 - 7 1135 c.1049C>T c.(1048-1050)ACG>ATG p.T350M TCERG1L_uc009yax.1_RNA NM_174937 NP_777597 Q5VWI1 TCRGL_HUMAN transcription elongation regulator 1-like 350 WW 2. large_intestine(2)|ovary(2) 4 all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09) all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276) GTCATCGCCCGTCCAGACCAC 0.502000 OR5D13 390142 broad.mit.edu 37 11 55541123 55541123 + Missense_Mutation SNP G G T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr11:55541123G>T uc010ril.1 + 1 210 c.210G>T c.(208-210)TTG>TTT p.L70F NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, 70 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_epithelial(135;0.196) ACTTGTCCTTGACAGACTTCT 0.393000 KDM4D 55693 broad.mit.edu 37 11 94731792 94731792 + Missense_Mutation SNP G G A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr11:94731792G>A uc001pfe.2 + 3 2088 c.1256G>A c.(1255-1257)CGG>CAG p.R419Q NM_018039 NP_060509 Q6B0I6 KDM4D_HUMAN jumonji domain containing 2D 419 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 ACGCAGCCCCGGGCTGCTGCT 0.602000 CWF19L2 143884 broad.mit.edu 37 11 107299860 107299860 + Silent SNP A A G TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr11:107299860A>G uc010rvp.1 - 8 1128 c.1098T>C c.(1096-1098)GCT>GCC p.A366A CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA NM_152434 NP_689647 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control 366 catalytic activity 0 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) TCAAGAATTTAGCTCTCAAAT 0.398000 SIDT2 51092 broad.mit.edu 37 11 117059426 117059426 + Missense_Mutation SNP C C T rs141277106 TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr11:117059426C>T uc001pqh.1 + 13 1203 c.1162C>T c.(1162-1164)CGC>TGC p.R388C SIDT2_uc010rxe.1_Missense_Mutation_p.R388C|SIDT2_uc001pqg.2_Missense_Mutation_p.R409C|SIDT2_uc001pqi.1_Intron NM_001040455 NP_001035545 Q8NBJ9 SIDT2_HUMAN SID1 transmembrane family, member 2 precursor 388 Cytoplasmic (Potential). integral to membrane|lysosomal membrane 0 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144) CTTTCCAGGCCGCTCCTTTGA 0.557000 PDZRN4 29951 broad.mit.edu 37 12 41967067 41967067 + Missense_Mutation SNP A A T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr12:41967067A>T uc010skn.1 + 10 1957 c.1889A>T c.(1888-1890)TAC>TTC p.Y630F PDZRN4_uc001rmq.3_Missense_Mutation_p.Y571F|PDZRN4_uc009zjz.2_Missense_Mutation_p.Y569F|PDZRN4_uc001rmr.2_Missense_Mutation_p.Y456F NM_013377 NP_037509 Q6ZMN7 PZRN4_HUMAN PDZ domain containing RING finger 4 isoform 2 829 ubiquitin-protein ligase activity|zinc ion binding lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1) 11 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) CACATCCCTTACCTCTCTCCT 0.463000 KIAA0748 9840 broad.mit.edu 37 12 55356738 55356738 + Missense_Mutation SNP A A C TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr12:55356738A>C uc001sgn.3 - 9 1054 c.944T>G c.(943-945)GTT>GGT p.V315G KIAA0748_uc001sgl.3_Missense_Mutation_p.V177G|KIAA0748_uc001sgm.3_Missense_Mutation_p.V62G|KIAA0748_uc010spb.1_Missense_Mutation_p.V62G|KIAA0748_uc010spc.1_Missense_Mutation_p.V177G|KIAA0748_uc010spd.1_Missense_Mutation_p.V315G|KIAA0748_uc001sgo.3_RNA NM_001098815 NP_001092285 A2RU30 K0748_HUMAN hypothetical protein LOC9840 315 ovary(1)|central_nervous_system(1) 2 TTCCAACACAACTTGGTCCAA 0.532000 CUX2 23316 broad.mit.edu 37 12 111785892 111785892 + Missense_Mutation SNP G G T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr12:111785892G>T uc001tsa.1 + 22 4377 c.4224G>T c.(4222-4224)ATG>ATT p.M1408I NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 1408 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 GCCTCATGATGTCTGTGTCAC 0.632000 ZMYM2 7750 broad.mit.edu 37 13 20568054 20568054 + Missense_Mutation SNP A A G TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr13:20568054A>G uc001umr.2 + 4 1140 c.842A>G c.(841-843)AAT>AGT p.N281S ZMYM2_uc001umq.2_Missense_Mutation_p.N194S|ZMYM2_uc001ums.2_Missense_Mutation_p.N281S|ZMYM2_uc001umt.2_Missense_Mutation_p.N281S|ZMYM2_uc009zzn.1_Missense_Mutation_p.N216S NM_003453 NP_003444 Q9UBW7 ZMYM2_HUMAN zinc finger protein 198 281 regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body ubiquitin conjugating enzyme binding|zinc ion binding lung(3)|ovary(2)|prostate(1) 6 all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856) ACTCATCATAATCCTGGTAAG 0.368000 KIAA0564 23078 broad.mit.edu 37 13 42442545 42442545 + Missense_Mutation SNP C C G rs144180077 byFrequency TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr13:42442545C>G uc001uyj.2 - 10 1219 c.1149G>C c.(1147-1149)ATG>ATC p.M383I KIAA0564_uc001uyk.2_Missense_Mutation_p.M383I NM_015058 NP_055873 A3KMH1 K0564_HUMAN hypothetical protein LOC23078 isoform a 383 extracellular region ATP binding|ATPase activity ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1) 6 Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969) CATGGTTTTCCATCATCTTCT 0.363000 SLC15A1 6564 broad.mit.edu 37 13 99362010 99362010 + Missense_Mutation SNP G G A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr13:99362010G>A uc001vno.2 - 13 1041 c.964C>T c.(964-966)CCC>TCC p.P322S NM_005073 NP_005064 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide 322 Extracellular (Potential). digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity ovary(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) ATCTGATCGGGCTGAATTTCA 0.423000 TTLL5 23093 broad.mit.edu 37 14 76245989 76245989 + Missense_Mutation SNP C C A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr14:76245989C>A uc001xrx.2 + 24 2664 c.2459C>A c.(2458-2460)ACT>AAT p.T820N TTLL5_uc010ask.1_Missense_Mutation_p.T834N|TTLL5_uc001xrz.2_Missense_Mutation_p.T395N|TTLL5_uc001xry.1_RNA NM_015072 NP_055887 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 820 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity ovary(2)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.029) TTCCTGGGGACTCACTCTAAA 0.383000 TRIP11 9321 broad.mit.edu 37 14 92471128 92471128 + Missense_Mutation SNP T T G TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr14:92471128T>G uc001xzy.2 - 11 3980 c.3192A>C c.(3190-3192)AAA>AAC p.K1064N TRIP11_uc010auf.1_Missense_Mutation_p.K800N NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1064 Potential. transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) TCTCCAAATCTTTCTGCTGAA 0.333000 T PDGFRB AML DLK1 8788 broad.mit.edu 37 14 101193435 101193435 + Silent SNP C C T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr14:101193435C>T uc001yhs.3 + 1 183 c.30C>T c.(28-30)GTC>GTT p.V10V DLK1_uc001yhu.3_Silent_p.V10V NM_003836 NP_003827 P80370 DLK1_HUMAN delta-like 1 homolog precursor 10 multicellular organismal development extracellular space|integral to membrane|soluble fraction ovary(2)|breast(1)|skin(1) 4 Melanoma(154;0.155) TCCTGCGCGTCCTCTTGCTCC 0.706000 TTBK2 146057 broad.mit.edu 37 15 43067923 43067923 + Splice_Site SNP T T C TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr15:43067923T>C uc001zqo.2 - 13 1849 c.1410_splice c.e13-1 p.C470_splice TTBK2_uc010bcy.2_Splice_Site_p.C401_splice NM_173500 NP_775771 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 cell death ATP binding|protein serine/threonine kinase activity ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1) 7 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) TTCTCCAGGCTTAAGGAAATG 0.393000 FBN1 2200 broad.mit.edu 37 15 48788332 48788332 + Missense_Mutation SNP C C T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr15:48788332C>T uc001zwx.1 - 20 2712 c.2384G>A c.(2383-2385)GGA>GAA p.G795E NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 795 EGF-like 12; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GTAGATAAATCCCTTGGGGCA 0.358000 AEN 64782 broad.mit.edu 37 15 89172456 89172456 + Splice_Site SNP G G C TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr15:89172456G>C uc002bmt.2 + 3 692 c.541_splice c.e3-1 p.I181_splice AEN_uc010bnm.1_Splice_Site_p.I181_splice NM_022767 NP_073604 Q8WTP8 AEN_HUMAN interferon stimulated exonuclease gene apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation nucleolus|nucleoplasm exonuclease activity|nucleic acid binding 0 TCTGCTCACAGATCCTTAAGC 0.602000 PPL 5493 broad.mit.edu 37 16 4934484 4934484 + Missense_Mutation SNP C C T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr16:4934484C>T uc002cyd.1 - 22 4262 c.4172G>A c.(4171-4173)CGG>CAG p.R1391Q NM_002705 NP_002696 O60437 PEPL_HUMAN periplakin 1391 Potential. keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(4)|central_nervous_system(1)|skin(1) 6 GCGCTGCAGCCGCCGCAGCTC 0.706000 ERN2 10595 broad.mit.edu 37 16 23706580 23706580 + Missense_Mutation SNP C C T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr16:23706580C>T uc002dma.3 - 15 2054 c.1885G>A c.(1885-1887)GAG>AAG p.E629K ERN2_uc010bxp.2_Missense_Mutation_p.E577K NM_033266 NP_150296 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signalling 2 581 Protein kinase.|Cytoplasmic (Potential). apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity p.E580*(1) large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) GGTCCCCGCTCGGTGCAGAAG 0.632000 STAT5B 6777 broad.mit.edu 37 17 40375558 40375558 + Missense_Mutation SNP C C G TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr17:40375558C>G uc002hzh.2 - 5 561 c.392G>C c.(391-393)GGA>GCA p.G131A STAT5B_uc002hzi.3_Missense_Mutation_p.G131A NM_012448 NP_036580 P51692 STA5B_HUMAN signal transducer and activator of transcription 131 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity ovary(3)|lung(2)|skin(1) 6 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) AGCAAGGCTTCCAGCTGGAGA 0.542000 CCDC47 57003 broad.mit.edu 37 17 61830101 61830101 + Missense_Mutation SNP C C T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr17:61830101C>T uc002jbs.3 - 10 1429 c.1093G>A c.(1093-1095)GTG>ATG p.V365M CCDC47_uc010ddx.2_Missense_Mutation_p.V365M|CCDC47_uc002jbt.2_Missense_Mutation_p.V365M NM_020198 NP_064583 Q96A33 CCD47_HUMAN coiled-coil domain containing 47 precursor 365 integral to membrane protein binding 0 GAATACTTACCATTAAATGTA 0.373000 OREG0031500 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) ABCA8 10351 broad.mit.edu 37 17 66899633 66899633 + Silent SNP A A G TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr17:66899633A>G uc002jhp.2 - 18 2465 c.2286T>C c.(2284-2286)GCT>GCC p.A762A ABCA8_uc002jhq.2_Silent_p.A802A|ABCA8_uc010wqq.1_Silent_p.A802A|ABCA8_uc010wqr.1_Silent_p.A741A|ABCA8_uc002jhr.2_Silent_p.A802A NM_007168 NP_009099 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A member 8 762 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 Breast(10;4.56e-13) CTCCCAAAATAGCAATGTCTG 0.388000 SERPINB8 5271 broad.mit.edu 37 18 61649024 61649024 + Nonsense_Mutation SNP G G T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr18:61649024G>T uc002ljv.2 + 4 545 c.376G>T c.(376-378)GAA>TAA p.E126* SERPINB8_uc002ljs.1_Nonsense_Mutation_p.E126*|SERPINB8_uc002ljt.2_Nonsense_Mutation_p.E126*|SERPINB8_uc002lju.2_Nonsense_Mutation_p.E126*|SERPINB8_uc010xex.1_5'UTR NM_198833 NP_942130 P50452 SPB8_HUMAN serine (or cysteine) proteinase inhibitor, clade 126 regulation of proteolysis cytosol protein binding|serine-type endopeptidase inhibitor activity skin(1) 1 Esophageal squamous(42;0.129) TGAAGACACTGAAGAGTGCAG 0.418000 DPF1 8193 broad.mit.edu 37 19 38709248 38709248 + Missense_Mutation SNP C C T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr19:38709248C>T uc002ohl.2 - 5 589 c.562G>A c.(562-564)GAC>AAC p.D188N DPF1_uc002ohm.2_Missense_Mutation_p.D188N|DPF1_uc002ohn.2_Missense_Mutation_p.D106N|DPF1_uc010xtu.1_Missense_Mutation_p.D162N|DPF1_uc010xtv.1_Missense_Mutation_p.D162N|DPF1_uc010xtw.1_Missense_Mutation_p.D162N NM_004647 NP_004638 Q92782 DPF1_HUMAN D4, zinc and double PHD fingers family 1 isoform 188 induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nBAF complex zinc ion binding 0 all_cancers(60;1.24e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CTGGGAATGTCATCCTCCAAG 0.478000 TRPM4 54795 broad.mit.edu 37 19 49671854 49671854 + Silent SNP C C T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr19:49671854C>T uc002pmw.2 + 6 729 c.657C>T c.(655-657)GAC>GAT p.D219D TRPM4_uc010emu.2_Silent_p.D219D|TRPM4_uc010yak.1_Translation_Start_Site|TRPM4_uc002pmx.2_Silent_p.D45D|TRPM4_uc010emv.2_Silent_p.D104D|TRPM4_uc010yal.1_Translation_Start_Site NM_017636 NP_060106 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, 219 Cytoplasmic (Potential). dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding ovary(1)|central_nervous_system(1) 2 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) ACCCGGAGGACGGGGTCCAGT 0.562000 FSHR 2492 broad.mit.edu 37 2 49295370 49295370 + Missense_Mutation SNP T T C TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr2:49295370T>C uc002rww.2 - 2 286 c.212A>G c.(211-213)GAC>GGC p.D71G FSHR_uc002rwx.2_Missense_Mutation_p.D71G|FSHR_uc010fbn.2_Missense_Mutation_p.D71G|FSHR_uc010fbo.1_RNA NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 71 Extracellular (Potential).|LRR 1. female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) TTTCTCCAGGTCCCCAAATCC 0.443000 Gonadal_Dysgenesis_46_XX CCDC85A 114800 broad.mit.edu 37 2 56420153 56420153 + Missense_Mutation SNP C C G TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr2:56420153C>G uc002rzn.2 + 2 1320 c.818C>G c.(817-819)GCA>GGA p.A273G NM_001080433 NP_001073902 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 273 His-rich. breast(3)|ovary(2) 5 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) CGCCCCAAAGCACTCAAAGGA 0.662000 LRP1B 53353 broad.mit.edu 37 2 141283892 141283892 + Missense_Mutation SNP C C T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr2:141283892C>T uc002tvj.1 - 48 8762 c.7790G>A c.(7789-7791)CGC>CAC p.R2597H NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2597 Extracellular (Potential).|LDL-receptor class A 13. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATCTGCACAGCGGAACTCAAC 0.403000 TSP Lung(27;0.18) SCN9A 6335 broad.mit.edu 37 2 167055546 167055546 + Missense_Mutation SNP A A C TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr2:167055546A>C uc010fpl.2 - 27 5911 c.5570T>G c.(5569-5571)ATG>AGG p.M1857R uc002udp.2_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 1868 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) ATTTGCAGACATGAACCTTTC 0.433000 LRP2 4036 broad.mit.edu 37 2 170060760 170060760 + Silent SNP A A C TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr2:170060760A>C uc002ues.2 - 42 7950 c.7737T>G c.(7735-7737)ACT>ACG p.T2579T NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 2579 LDL-receptor class B 28.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CGCCCGTCAGAGTGCTGCGTT 0.438000 TTN 7273 broad.mit.edu 37 2 179654210 179654210 + Silent SNP G G A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr2:179654210G>A uc010zfg.1 - 13 2177 c.1953C>T c.(1951-1953)GCC>GCT p.A651A TTN_uc010zfh.1_Silent_p.A605A|TTN_uc010zfi.1_Silent_p.A605A|TTN_uc010zfj.1_Silent_p.A605A|TTN_uc002unb.2_Silent_p.A651A|TTN_uc010frg.1_Silent_p.A233A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 651 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAGTTTTCTCGGCTTCCTTTC 0.403000 IRS1 3667 broad.mit.edu 37 2 227662755 227662755 + Missense_Mutation SNP C C T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr2:227662755C>T uc002voh.3 - 1 752 c.700G>A c.(700-702)GGG>AGG p.G234R NM_005544 NP_005535 P35568 IRS1_HUMAN insulin receptor substrate 1 234 IRS-type PTB. fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1) 12 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) CAGAACTCCCCGGGCCCCGTC 0.627000 OREG0015248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SP110 3431 broad.mit.edu 37 2 231067427 231067427 + Missense_Mutation SNP G G A rs148304482 TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr2:231067427G>A uc002vqh.3 - 9 1156 c.916C>T c.(916-918)CAC>TAC p.H306Y SP110_uc002vqg.3_Missense_Mutation_p.H306Y|SP110_uc002vqi.3_Missense_Mutation_p.H306Y|SP110_uc010fxk.2_Missense_Mutation_p.H304Y|SP110_uc010fxj.2_Intron NM_004509 NP_004500 Q9HB58 SP110_HUMAN SP110 nuclear body protein isoform a 306 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|signal transducer activity|zinc ion binding ovary(2)|breast(2) 4 Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169) Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097) TGGATTCCGTGTCTAGATGAG 0.458000 TSHZ2 128553 broad.mit.edu 37 20 51872060 51872060 + Missense_Mutation SNP C C A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr20:51872060C>A uc002xwo.2 + 2 3019 c.2063C>A c.(2062-2064)GCC>GAC p.A688D NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 688 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) CACGCCCCGGCCCTGCCATGC 0.632000 TIAM1 7074 broad.mit.edu 37 21 32617948 32617948 + Silent SNP G G A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr21:32617948G>A uc002yow.1 - 7 1912 c.1440C>T c.(1438-1440)GAC>GAT p.D480D TIAM1_uc011adk.1_Silent_p.D480D|TIAM1_uc011adl.1_Silent_p.D480D|TIAM1_uc002yox.1_Silent_p.D88D NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 480 PH 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 CAGACCTGCCGTCGCTCTCGT 0.527000 TTC3 7267 broad.mit.edu 37 21 38538093 38538093 + Missense_Mutation SNP G G C TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr21:38538093G>C uc002yvz.2 + 33 3682 c.3577G>C c.(3577-3579)GAA>CAA p.E1193Q TTC3_uc011aee.1_Missense_Mutation_p.E883Q|TTC3_uc002ywa.2_Missense_Mutation_p.E1193Q|TTC3_uc002ywb.2_Missense_Mutation_p.E1193Q|TTC3_uc010gnf.2_Missense_Mutation_p.E958Q|TTC3_uc002ywc.2_Missense_Mutation_p.E883Q|TTC3_uc002ywd.1_Missense_Mutation_p.E257Q NM_001001894 NP_001001894 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 1193 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(3)|ovary(2)|lung(2)|breast(2) 9 Myeloproliferative disorder(46;0.0412) AAAAGTAGAAGAAATTTCAAA 0.373000 GTPBP1 9567 broad.mit.edu 37 22 39122390 39122390 + Missense_Mutation SNP G G A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr22:39122390G>A uc003awg.2 + 8 1500 c.1346G>A c.(1345-1347)CGC>CAC p.R449H NM_004286 NP_004277 O00178 GTPB1_HUMAN GTP binding protein 1 449 immune response|positive regulation of mRNA catabolic process|signal transduction cytoplasmic exosome (RNase complex)|cytosol GTP binding|GTPase activity ovary(1) 1 Melanoma(58;0.04) CATCGCAAGCGCATGCCTGTC 0.552000 PLXNB1 5364 broad.mit.edu 37 3 48448490 48448490 + Silent SNP C C T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr3:48448490C>T uc003csw.2 - 35 6366 c.6096G>A c.(6094-6096)CCG>CCA p.P2032P PLXNB1_uc003cst.2_Silent_p.P482P|PLXNB1_uc003csu.2_Silent_p.P1849P|PLXNB1_uc003csx.2_Silent_p.P2032P NM_002673 NP_002664 O43157 PLXB1_HUMAN plexin B1 precursor 2032 Cytoplasmic (Potential). axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GTTTGTTGATCGGGGAGTCCT 0.473000 CACNA2D3 55799 broad.mit.edu 37 3 55107475 55107475 + Silent SNP C C G TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr3:55107475C>G uc003dhf.2 + 36 3039 c.2991C>G c.(2989-2991)TCC>TCG p.S997S CACNA2D3_uc003dhg.1_Silent_p.S903S|CACNA2D3_uc003dhh.1_RNA NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 997 Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) CCAACAGGTCCTTTGTCATCC 0.512000 OR5K4 403278 broad.mit.edu 37 3 98072767 98072767 + Missense_Mutation SNP A A G TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr3:98072767A>G uc011bgv.1 + 1 70 c.70A>G c.(70-72)AAG>GAG p.K24E NM_001005517 NP_001005517 A6NMS3 OR5K4_HUMAN olfactory receptor, family 5, subfamily K, 24 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 TCCAGAGCTGAAGACGCTTCT 0.438000 SLC15A2 6565 broad.mit.edu 37 3 121648191 121648191 + Missense_Mutation SNP G G A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr3:121648191G>A uc003eep.2 + 17 1702 c.1549G>A c.(1549-1551)GTG>ATG p.V517M SLC15A2_uc011bjn.1_Missense_Mutation_p.V486M NM_021082 NP_066568 Q16348 S15A2_HUMAN peptide transporter 2 isoform a 517 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding skin(1) 1 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) GATGACAACCGTGAGGTTTGA 0.398000 NAALADL2 254827 broad.mit.edu 37 3 175473204 175473204 + Silent SNP T T C TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr3:175473204T>C uc003fit.2 + 13 2274 c.2187T>C c.(2185-2187)TAT>TAC p.Y729Y NM_207015 NP_996898 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 729 Extracellular (Potential). proteolysis integral to membrane peptidase activity pancreas(1) 1 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) CAGGTTTTTATAGGTAGGATG 0.393000 PDHA2 5161 broad.mit.edu 37 4 96761832 96761832 + Silent SNP G G A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr4:96761832G>A uc003htr.3 + 1 594 c.531G>A c.(529-531)CTG>CTA p.L177L NM_005390 NP_005381 P29803 ODPAT_HUMAN pyruvate dehydrogenase E1 alpha 2 precursor 177 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) GCATTGCTCTGGCCTGTAAAT 0.498000 MARVELD2 153562 broad.mit.edu 37 5 68716051 68716051 + Missense_Mutation SNP G G A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr5:68716051G>A uc003jwq.2 + 2 898 c.839G>A c.(838-840)CGG>CAG p.R280Q MARVELD2_uc010ixf.2_Missense_Mutation_p.R280Q|MARVELD2_uc003jwr.1_Missense_Mutation_p.R280Q|MARVELD2_uc003jws.1_Intron NM_001038603 NP_001033692 Q8N4S9 MALD2_HUMAN MARVEL domain containing 2 isoform 1 280 MARVEL.|Extracellular (Potential). sensory perception of sound integral to membrane|tight junction 0 Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183) ATGTATTACCGGACCATTCTT 0.433000 TNPO1 3842 broad.mit.edu 37 5 72178338 72178338 + Missense_Mutation SNP A A G TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr5:72178338A>G uc003kck.3 + 10 1112 c.965A>G c.(964-966)GAT>GGT p.D322G TNPO1_uc011csi.1_RNA|TNPO1_uc011csj.1_Missense_Mutation_p.D272G|TNPO1_uc003kch.2_Missense_Mutation_p.D314G|TNPO1_uc003kci.3_Missense_Mutation_p.D314G|TNPO1_uc003kcg.3_Missense_Mutation_p.D314G NM_002270 NP_002261 Q92973 TNPO1_HUMAN transportin 1 isoform 1 322 interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation cytosol|nucleus nuclear localization sequence binding|protein binding|protein transporter activity skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1) 7 Lung NSC(167;0.0053)|Ovarian(174;0.0175) OV - Ovarian serous cystadenocarcinoma(47;6.14e-54) TCAGACATAGATATTATCCTA 0.303000 CRHBP 1393 broad.mit.edu 37 5 76249963 76249963 + Silent SNP C C T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr5:76249963C>T uc003ker.2 + 3 565 c.285C>T c.(283-285)ATC>ATT p.I95I CRHBP_uc010izx.2_Silent_p.I95I NM_001882 NP_001873 P24387 CRHBP_HUMAN corticotropin releasing hormone binding protein 95 female pregnancy|learning or memory|signal transduction soluble fraction 0 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41) TCATTACCATCCACTACGACC 0.652000 EPB41L4A 64097 broad.mit.edu 37 5 111601943 111601943 + Silent SNP C C T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr5:111601943C>T uc003kpv.1 - 5 694 c.420G>A c.(418-420)GCG>GCA p.A140A EPB41L4A_uc003kpw.1_Silent_p.A140A NM_022140 NP_071423 Q9HCS5 E41LA_HUMAN erythrocyte protein band 4.1-like 4 140 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding ovary(1) 1 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) GGATGGCATACGCTCCCAGCT 0.433000 AFF4 27125 broad.mit.edu 37 5 132272875 132272875 + Missense_Mutation SNP G G A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr5:132272875G>A uc003kyd.2 - 2 415 c.7C>T c.(7-9)CGT>TGT p.R3C AFF4_uc011cxk.1_5'UTR|AFF4_uc003kye.1_Missense_Mutation_p.R3C|AFF4_uc003kyf.3_Missense_Mutation_p.R3C NM_014423 NP_055238 Q9UHB7 AFF4_HUMAN ALL1 fused gene from 5q31 3 transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|kidney(2)|skin(1) 5 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CGGTCTTCACGGTTCATGTTG 0.413000 NR3C1 2908 broad.mit.edu 37 5 142689712 142689712 + Missense_Mutation SNP C C A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr5:142689712C>A uc003lmz.2 - 4 1910 c.1418G>T c.(1417-1419)TGC>TTC p.C473F NR3C1_uc003lmy.2_Missense_Mutation_p.C474F|NR3C1_uc003lna.2_Missense_Mutation_p.C473F|NR3C1_uc003lnb.2_Missense_Mutation_p.C473F|NR3C1_uc011dbk.1_Missense_Mutation_p.C76F|NR3C1_uc003lnc.2_Missense_Mutation_p.C473F|NR3C1_uc003lnd.2_Missense_Mutation_p.C473F|NR3C1_uc003lne.2_Missense_Mutation_p.C473F|NR3C1_uc003lnf.2_Missense_Mutation_p.C474F NM_000176 NP_000167 P04150 GCR_HUMAN glucocorticoid receptor isoform alpha 473 NR C4-type.|Nuclear receptor. chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter mitochondrial matrix|nucleoplasm glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding ovary(2) 2 Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635) GCATGCTGGGCAGTTTTTTCT 0.363000 SAP30L 79685 broad.mit.edu 37 5 153833058 153833058 + Missense_Mutation SNP G G A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr5:153833058G>A uc003lvk.2 + 3 1069 c.421G>A c.(421-423)GAA>AAA p.E141K SAP30L_uc003lvm.3_RNA|SAP30L_uc011ddc.1_Missense_Mutation_p.E100K|SAP30L_uc011ddd.1_Missense_Mutation_p.E95K NM_024632 NP_078908 Q9HAJ7 SP30L_HUMAN SAP30-like isoform 1 141 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|metal ion binding 0 Renal(175;0.00488) Medulloblastoma(196;0.0523) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) CCAGTTAGCAGAAGTAGGTAG 0.463000 FBXW11 23291 broad.mit.edu 37 5 171305130 171305130 + Missense_Mutation SNP A A G TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr5:171305130A>G uc003mbm.1 - 7 1164 c.793T>C c.(793-795)TGG>CGG p.W265R FBXW11_uc011dey.1_Missense_Mutation_p.W233R|FBXW11_uc003mbl.1_Missense_Mutation_p.W252R|FBXW11_uc003mbn.1_Missense_Mutation_p.W231R NM_012300 NP_036432 Q9UKB1 FBW1B_HUMAN F-box and WD repeat domain containing 11 isoform 265 WD 1. cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway centrosome|cytosol|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(1)|breast(1) 2 Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659) Medulloblastoma(196;0.00853)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GTTTTATCCCATATCTATTGA 0.373000 MSH5 4439 broad.mit.edu 37 6 31729612 31729612 + Silent SNP G G A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr6:31729612G>A uc003nwv.1 + 23 2278 c.2199G>A c.(2197-2199)GAG>GAA p.E733E MSH5_uc003nwt.1_Silent_p.E750E|MSH5_uc003nwu.1_Silent_p.E734E|MSH5_uc003nww.1_Silent_p.E733E|MSH5_uc003nwx.1_Silent_p.E751E|MSH5_uc011dof.1_Silent_p.E432E|MSH5_uc003nwy.1_Silent_p.E407E|MSH5_uc003nwz.3_RNA|C6orf26_uc003nxa.3_5'Flank NM_172166 NP_751898 O43196 MSH5_HUMAN mutS homolog 5 isoform c 733 chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding ovary(2)|breast(1) 3 AGACCTGTGAGGATGGCAACG 0.522000 Direct_reversal_of_damage|MMR MAGI2 9863 broad.mit.edu 37 7 77998505 77998505 + Silent SNP G G A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr7:77998505G>A uc003ugx.2 - 7 1325 c.1071C>T c.(1069-1071)ATC>ATT p.I357I MAGI2_uc003ugy.2_Silent_p.I357I|MAGI2_uc010ldx.1_5'UTR|MAGI2_uc010ldy.1_5'UTR|MAGI2_uc011kgr.1_Silent_p.I189I|MAGI2_uc011kgs.1_Silent_p.I194I NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 357 WW 2.|Interaction with DDN. cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TGGGATCATCGATTTTTTCCC 0.244000 KRIT1 889 broad.mit.edu 37 7 91864762 91864762 + Silent SNP A A G TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr7:91864762A>G uc003ulq.1 - 6 855 c.684T>C c.(682-684)TGT>TGC p.C228C KRIT1_uc010lev.1_Silent_p.C21C|KRIT1_uc003ulr.1_Silent_p.C228C|KRIT1_uc003uls.1_Silent_p.C228C|KRIT1_uc003ult.1_Silent_p.C228C|KRIT1_uc003ulu.1_Silent_p.C228C|KRIT1_uc003ulv.1_Silent_p.C228C NM_194456 NP_919438 O00522 KRIT1_HUMAN krev interaction trapped 1 isoform 1 228 angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction cell-cell junction|cytoskeleton protein binding|small GTPase regulator activity ovary(2)|lung(1) 3 all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GGTTGTAAATACAGGTATCTG 0.353000 Familial_Cerebral_Cavernous_Angioma PILRB 29990 broad.mit.edu 37 7 99956991 99956991 + Silent SNP C C T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr7:99956991C>T uc003uuk.2 + 17 2982 c.486C>T c.(484-486)AGC>AGT p.S162S PILRB_uc003uul.2_Nonsense_Mutation_p.Q93*|PILRB_uc003uun.2_Silent_p.S162S NM_013440 NP_038468 Q9UKJ0 PILRB_HUMAN paired immunoglobulin-like type 2 receptor beta 162 Extracellular (Potential). activation of transmembrane receptor protein tyrosine kinase activity integral to plasma membrane protein binding|receptor activity 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGAGGCCCAGCAGCACAACCA 0.572000 PTPRZ1 5803 broad.mit.edu 37 7 121608163 121608163 + Missense_Mutation SNP A A C TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr7:121608163A>C uc003vjy.2 + 3 678 c.283A>C c.(283-285)ATT>CTT p.I95L PTPRZ1_uc003vjz.2_Missense_Mutation_p.I95L NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 95 Extracellular (Potential).|Alpha-carbonic anhydrase. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 AAACACATTCATTCATAACAC 0.303000 PINX1 54984 broad.mit.edu 37 8 10623284 10623284 + Missense_Mutation SNP G G A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr8:10623284G>A uc003wth.2 - 7 647 c.614C>T c.(613-615)ACG>ATG p.T205M SOX7_uc011kwz.1_Intron|PINX1_uc003wti.2_3'UTR NM_017884 NP_060354 Q96BK5 PINX1_HUMAN PIN2-interacting protein 1 205 T -> A (in Ref. 6; AAS19507). mitotic metaphase plate congression|negative regulation of cell proliferation chromosome, telomeric region|condensed chromosome kinetochore|mitochondrion|nuclear chromosome|nucleolus|spindle protein binding|telomerase inhibitor activity|telomeric RNA binding lung(1)|kidney(1)|skin(1) 3 Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201) TTCCACCTGCGTCTCAGAAAT 0.522000 CHRNA6 8973 broad.mit.edu 37 8 42611522 42611522 + Missense_Mutation SNP G G A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr8:42611522G>A uc003xpj.2 - 5 866 c.820C>T c.(820-822)CTT>TTT p.L274F CHRNA6_uc011lcw.1_Missense_Mutation_p.L259F NM_004198 NP_004189 Q15825 ACHA6_HUMAN cholinergic receptor, nicotinic, alpha 6 274 Helical; (Potential). 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) GAAATACAAAGCGTCACTTTT 0.438000 CSMD3 114788 broad.mit.edu 37 8 113276010 113276010 + Silent SNP A A G TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr8:113276010A>G uc003ynu.2 - 61 9879 c.9720T>C c.(9718-9720)TCT>TCC p.S3240S CSMD3_uc003yns.2_Silent_p.S2442S|CSMD3_uc003ynt.2_Silent_p.S3200S|CSMD3_uc011lhx.1_Silent_p.S3071S NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3240 Sushi 25.|Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GCCTTCCATTAGAGATCTGGG 0.418000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) TRPS1 7227 broad.mit.edu 37 8 116426974 116426974 + Missense_Mutation SNP A A C TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr8:116426974A>C uc003ynz.2 - 6 3582 c.3123T>G c.(3121-3123)AGT>AGG p.S1041R TRPS1_uc011lhy.1_Missense_Mutation_p.S1045R|TRPS1_uc003yny.2_Missense_Mutation_p.S1054R|TRPS1_uc010mcy.2_Missense_Mutation_p.S1041R NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 1041 Mediates interaction with RNF4 (By similarity). negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TTTCCTGAGGACTTTTTATCT 0.438000 Langer-Giedion_syndrome PTPRD 5789 broad.mit.edu 37 9 8518230 8518230 + Silent SNP C C T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr9:8518230C>T uc003zkk.2 - 20 1872 c.1161G>A c.(1159-1161)TCG>TCA p.S387S PTPRD_uc003zkp.2_Silent_p.S387S|PTPRD_uc003zkq.2_Silent_p.S387S|PTPRD_uc003zkr.2_Silent_p.S381S|PTPRD_uc003zks.2_Silent_p.S377S|PTPRD_uc003zkl.2_Silent_p.S387S|PTPRD_uc003zkm.2_Silent_p.S374S|PTPRD_uc003zkn.2_Silent_p.S387S|PTPRD_uc003zko.2_Silent_p.S384S NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 387 Fibronectin type-III 1.|Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) ATTCATAATCCGAGTAGGGAC 0.488000 TSP Lung(15;0.13) TNC 3371 broad.mit.edu 37 9 117792587 117792587 + Missense_Mutation SNP C C A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr9:117792587C>A uc004bjj.3 - 24 6380 c.6018G>T c.(6016-6018)AAG>AAT p.K2006N TNC_uc010mvf.2_Missense_Mutation_p.K1733N NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 2006 Fibrinogen C-terminal. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 GCGCCTCAGCCTTATCACCAT 0.552000 GLT6D1 360203 broad.mit.edu 37 9 138516144 138516144 + Missense_Mutation SNP C C G TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr9:138516144C>G uc010nbd.1 - 5 884 c.630G>C c.(628-630)AGG>AGC p.R210S NM_182974 NP_892019 Q7Z4J2 GL6D1_HUMAN glycosyltransferase 6 domain containing 1 210 Lumenal (Potential). carbohydrate metabolic process integral to membrane transferase activity, transferring hexosyl groups ovary(1) 1 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05) AGGTCGGCCTCCTCTCATAAG 0.517000 PNPLA7 375775 broad.mit.edu 37 9 140437210 140437210 + Missense_Mutation SNP T T G TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr9:140437210T>G uc004cnf.2 - 6 812 c.475A>C c.(475-477)AAA>CAA p.K159Q PNPLA7_uc010ncj.1_Missense_Mutation_p.K184Q NM_152286 NP_689499 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 159 cNMP 1. lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity skin(1) 1 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) ACGATGTGTTTGCAAAGCTCC 0.642000 ASMT 438 broad.mit.edu 37 X 1743214 1743214 + Silent SNP G G A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chrX:1743214G>A uc004cqd.2 + 4 442 c.297G>A c.(295-297)CCG>CCA p.P99P ASMT_uc010ncy.2_Silent_p.P99P|ASMT_uc004cqe.2_Silent_p.P99P NM_004043 NP_004034 P46597 HIOM_HUMAN acetylserotonin O-methyltransferase 99 melatonin biosynthetic process|translation cytosol acetylserotonin O-methyltransferase activity|S-methyltransferase activity skin(1) 1 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) CGGTCAGCCCGACGTCACAAT 0.567000 HEPH 9843 broad.mit.edu 37 X 65476001 65476001 + Nonsense_Mutation SNP G G T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chrX:65476001G>T uc011moz.1 + 17 2794 c.2734G>T c.(2734-2736)GAG>TAG p.E912* HEPH_uc004dwn.2_Nonsense_Mutation_p.E912*|HEPH_uc004dwo.2_Nonsense_Mutation_p.E642*|HEPH_uc010nkr.2_Nonsense_Mutation_p.E720*|HEPH_uc011mpa.1_Nonsense_Mutation_p.E912*|HEPH_uc010nks.2_Nonsense_Mutation_p.E201* NM_138737 NP_620074 Q9BQS7 HEPH_HUMAN hephaestin isoform a 909 Extracellular (Potential). cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity lung(5)|ovary(4) 9 GGGCATCCTGGAGCCCCATGG 0.483000 SEPT6 23157 broad.mit.edu 37 X 118767373 118767373 + Missense_Mutation SNP C C T TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chrX:118767373C>T uc004erv.2 - 8 1304 c.1039G>A c.(1039-1041)GTC>ATC p.V347I SEPT6_uc010nqk.2_Intron|SEPT6_uc004ers.2_Missense_Mutation_p.V347I|SEPT6_uc004ert.2_Missense_Mutation_p.V347I|SEPT6_uc004eru.2_Missense_Mutation_p.V347I|SEPT6_uc004erw.2_Missense_Mutation_p.V289I|SEPT6_uc011mtv.1_Missense_Mutation_p.V289I|SEPT6_uc011mtw.1_Missense_Mutation_p.V377I NM_015129 NP_055944 Q14141 SEPT6_HUMAN septin 6 isoform B 347 Potential. cell cycle|cytokinesis|interspecies interaction between organisms cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle GTP binding|protein binding lung(1)|ovary(1)|prostate(1)|kidney(1) 4 ACTCGCTGGACGAACATCTGT 0.388000 GLUD2 2747 broad.mit.edu 37 X 120182259 120182259 + Missense_Mutation SNP G G A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chrX:120182259G>A uc004eto.2 + 1 798 c.721G>A c.(721-723)GCC>ACC p.A241T NM_012084 NP_036216 P49448 DHE4_HUMAN glutamate dehydrogenase 2 precursor 241 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding pancreas(1) 1 L-Glutamic Acid(DB00142)|NADH(DB00157) TGATACCTATGCCAGCACCAT 0.527000 TP53 7157 broad.mit.edu 37 17 7577594 7577595 + Frame_Shift_Del DEL AC AC - TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr17:7577594_7577595delAC uc002gim.2 - 7 880_881 c.686_687delGT c.(685-687)TGTfs p.C229fs TP53_uc002gig.1_Frame_Shift_Del_p.C229fs|TP53_uc002gih.2_Frame_Shift_Del_p.C229fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.C97fs|TP53_uc010cng.1_Frame_Shift_Del_p.C97fs|TP53_uc002gii.1_Frame_Shift_Del_p.C97fs|TP53_uc010cnh.1_Frame_Shift_Del_p.C229fs|TP53_uc010cni.1_Frame_Shift_Del_p.C229fs|TP53_uc002gij.2_Frame_Shift_Del_p.C229fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.C136fs|TP53_uc002gio.2_Frame_Shift_Del_p.C97fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 229 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). C -> Y (in sporadic cancers; somatic mutation).|C -> G (in a sporadic cancer; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C229fs*10(10)|p.0?(7)|p.C229*(3)|p.C229S(2)|p.C229R(2)|p.C229Y(2)|p.C229_H233delCTTIH(2)|p.T230fs*9(1)|p.C229fs*1(1)|p.C229fs*18(1)|p.C229_T230insX(1)|p.C229C(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.C229G(1)|p.C229_I232del(1)|p.S227_I232delSDCTTI(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGATGGTGGTACAGTCAGAGCC 0.525 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) KIAA0754 643314 broad.mit.edu 37 1 39877377 39877378 + Frame_Shift_Ins INS - - A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr1:39877376_39877377T>TA uc009vvt.1 + 0 2201_2202 c.1439_1440T>TA c.(1438-1440)gtafs p.V480fs MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron NM_015038 NP_055853 O94854 K0754_HUMAN Homo sapiens KIAA0754 (KIAA0754), mRNA. 344 central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GAAGAAGGAGTAACTCCTCTAG 0.431 SPINK5 11005 broad.mit.edu 37 5 147475440 147475441 + Frame_Shift_Ins INS - - A TCGA-CG-5732-01A-11D-1600-08 TCGA-CG-5732-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d3009-0ba7-40d5-a7fc-7314d364501e 247876be-3fc0-4bfc-b0c0-a1a9b184879d g.chr5:147475439_147475440G>GA uc003lox.2 + 9 926_927 c.853_854G>GA c.(853-855)gaafs p.E285fs SPINK5_uc010jgq.1_Non-coding_Transcript|SPINK5_uc010jgs.1_Frame_Shift_Ins_p.E257fs|SPINK5_uc010jgr.2_Frame_Shift_Ins_p.E266fs|SPINK5_uc003low.2_Frame_Shift_Ins_p.E285fs|SPINK5_uc003loy.2_Frame_Shift_Ins_p.E285fs NM_006846 NP_006837 Q9NQ38 ISK5_HUMAN Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA. 285 Kazal-like 4. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAAAGCTGAAGAAAAAACTAAA 0.376