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 t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut DVL1 1855 broad.mit.edu 37 1 1273937 1273937 + Missense_Mutation SNP A A C TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr1:1273937A>C uc001aer.3 - 12 1276 c.1229T>G c.(1228-1230)ATG>AGG p.M410R DVL1_uc002quu.2_Missense_Mutation_p.M152R|DVL1_uc009vka.2_Missense_Mutation_p.M93R|DVL1_uc001aeu.1_Missense_Mutation_p.M169R NM_004421 NP_004412 O14640 DVL1_HUMAN dishevelled 1 435 DEP. canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome frizzled binding|identical protein binding|protein kinase binding|signal transducer activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) CTTGAGCCACATGCGGTCGCG 0.672 NA 10 41 0 0 0 0 DNAJC11 55735 broad.mit.edu 37 1 6699997 6699997 + Silent SNP C C G TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr1:6699997C>G uc001aof.2 - 11 1324 c.1218G>C c.(1216-1218)CTG>CTC p.L406L DNAJC11_uc010nzt.1_Intron|DNAJC11_uc001aog.2_Intron|DNAJC11_uc010nzu.1_Silent_p.L316L NM_018198 NP_060668 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 406 protein folding heat shock protein binding|unfolded protein binding ovary(1)|skin(1) 2 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) GTTTGATGATCAGACGGTGCA 0.393 NA 6 27 0 0 0 0 UBIAD1 29914 broad.mit.edu 37 1 11345928 11345928 + Missense_Mutation SNP G G A TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr1:11345928G>A uc001asg.2 + 2 1091 c.757G>A c.(757-759)GGC>AGC p.G253S NM_013319 NP_037451 Q9Y5Z9 UBIA1_HUMAN UbiA prenyltransferase domain containing 1 253 Helical; (Potential). menaquinone biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus prenyltransferase activity 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487) CATCCTCATCGGCCCCACGTT 0.607 NA 13 93 0 0 0 0 HSPG2 3339 broad.mit.edu 37 1 22169810 22169810 + Missense_Mutation SNP G G A TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr1:22169810G>A uc001bfj.2 - 66 8778 c.8738C>T c.(8737-8739)TCC>TTC p.S2913F HSPG2_uc009vqd.2_Missense_Mutation_p.S2914F NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 2913 Ig-like C2-type 14. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) TCCTGGGCTGGAGGGCTCAAT 0.632 NA 10 46 0 0 0 0 CDC7 8317 broad.mit.edu 37 1 91978847 91978847 + Missense_Mutation SNP C C A TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr1:91978847C>A uc001doe.2 + 7 970 c.805C>A c.(805-807)CAA>AAA p.Q269K CDC7_uc001dof.2_Missense_Mutation_p.Q269K|CDC7_uc010osw.1_Missense_Mutation_p.Q241K|CDC7_uc009wdc.2_Missense_Mutation_p.Q269K|CDC7_uc009wdd.2_5'Flank NM_003503 NP_003494 O00311 CDC7_HUMAN cell division cycle 7 269 Protein kinase. cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase cytoplasm|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity stomach(2)|large_intestine(1)|ovary(1)|central_nervous_system(1) 5 all_lung(203;0.0165)|Lung NSC(277;0.0562) all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124) TCAGATTAAACAAGGAAAAGA 0.403 NA 4 29 1.24e-05 2.91e-05 1 0 LAD1 3898 broad.mit.edu 37 1 201358343 201358343 + Missense_Mutation SNP C C T rs138881525 TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr1:201358343C>T uc001gwm.2 - 2 362 c.127G>A c.(127-129)GAT>AAT p.D43N LAD1_uc009wzu.1_Missense_Mutation_p.D65N NM_005558 NP_005549 O00515 LAD1_HUMAN ladinin 1 43 basement membrane structural molecule activity 0 GGAGCCTCATCGTCCGTGGTG 0.642 NA 8 34 0 0 0 0 FGF19 9965 broad.mit.edu 37 11 69518109 69518109 + Missense_Mutation SNP C C T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr11:69518109C>T uc001opf.2 - 2 719 c.256G>A c.(256-258)GCT>ACT p.A86T NM_005117 NP_005108 O95750 FGF19_HUMAN fibroblast growth factor 19 precursor 86 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of bile acid biosynthetic process|nervous system development|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import|positive regulation of JNK cascade extracellular region fibroblast growth factor receptor binding|growth factor activity skin(1) 1 all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) GTCCGCAGAGCGACTGCCTTG 0.677 NA 5 19 0 0 0 0 CLPB 81570 broad.mit.edu 37 11 72145270 72145270 + Silent SNP G G T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr11:72145270G>T uc001osj.2 - 1 299 c.249C>A c.(247-249)CTC>CTA p.L83L CLPB_uc010rqx.1_Missense_Mutation_p.R3S|CLPB_uc010rqy.1_Silent_p.L83L|CLPB_uc001osk.2_Silent_p.L83L|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_5'UTR NM_030813 NP_110440 Q9H078 CLPB_HUMAN caseinolytic peptidase B 83 cellular response to heat ATP binding|nucleoside-triphosphatase activity|protein binding pancreas(1) 1 TGGCAGCCGCGAGGCATTTGG 0.692 NA OREG0021194 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 45 1.11e-09 2.73e-09 1 0 SLCO2B1 11309 broad.mit.edu 37 11 74904300 74904300 + Silent SNP C C T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr11:74904300C>T uc001owb.2 + 9 1500 c.1113C>T c.(1111-1113)CCC>CCT p.P371P SLCO2B1_uc010rrq.1_Silent_p.P116P|SLCO2B1_uc010rrr.1_Silent_p.P227P|SLCO2B1_uc010rrs.1_Silent_p.P255P|SLCO2B1_uc001owc.2_Silent_p.P144P|SLCO2B1_uc001owd.2_Silent_p.P349P NM_007256 NP_009187 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, 371 Helical; Name=7; (Potential). sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity ovary(1)|breast(1) 2 Ergoloid mesylate(DB01049) TACGCCACCCCATCTTCCTGC 0.627 NA 19 80 0 0 0 0 GPRC5A 9052 broad.mit.edu 37 12 13061574 13061574 + Silent SNP C C T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr12:13061574C>T uc001rba.2 + 2 1041 c.391C>T c.(391-393)CTG>TTG p.L131L GPRC5A_uc001raz.2_Silent_p.L131L NM_003979 NP_003970 Q8NFJ5 RAI3_HUMAN G protein-coupled receptor, family C, group 5, 131 Helical; Name=4; (Potential). cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane G-protein coupled receptor activity 0 Prostate(47;0.141) BRCA - Breast invasive adenocarcinoma(232;0.0708) Tretinoin(DB00755) GCCCCTTTCCCTGTTGGTGAT 0.522 NA 48 183 0 0 0 0 OR10AD1 121275 broad.mit.edu 37 12 48596393 48596393 + Missense_Mutation SNP C C T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr12:48596393C>T uc001rrl.1 - 1 683 c.683G>A c.(682-684)AGC>AAC p.S228N NM_001004134 NP_001004134 Q8NGE0 O10AD_HUMAN olfactory receptor, family 10, subfamily AD, 228 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GGAGGCTTTGCTGAGGATGGT 0.507 NA 7 41 0 0 0 0 HOXC6 3223 broad.mit.edu 37 12 54422634 54422634 + Missense_Mutation SNP G G T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr12:54422634G>T uc001sev.2 + 1 441 c.329G>T c.(328-330)AGG>ATG p.R110M HOXC6_uc001ses.2_Missense_Mutation_p.R28M|HOXC5_uc001set.2_Intron|HOXC4_uc001seu.2_Intron NM_004503 NP_004494 P09630 HXC6_HUMAN homeobox C6 isoform 1 110 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(2)|upper_aerodigestive_tract(1) 3 GAGCAGGGCAGGACTGCGCCC 0.468 NA 10 110 2.74e-10 6.79e-10 1 0 ACIN1 22985 broad.mit.edu 37 14 23532678 23532678 + Missense_Mutation SNP A A T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr14:23532678A>T uc001wit.3 - 13 3206 c.2878T>A c.(2878-2880)TTG>ATG p.L960M ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Missense_Mutation_p.L202M|ACIN1_uc001wiq.3_Missense_Mutation_p.L202M|ACIN1_uc001wir.3_Missense_Mutation_p.L233M|ACIN1_uc001wis.3_Missense_Mutation_p.L641M|ACIN1_uc010akg.2_Missense_Mutation_p.L947M NM_014977 NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 960 apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) GGTGGGGGCAAGGCCACCTCT 0.517 NA 18 44 0 0 0 0 SLC7A8 23428 broad.mit.edu 37 14 23609754 23609754 + Silent SNP G G A TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr14:23609754G>A uc001wiz.2 - 5 1440 c.714C>T c.(712-714)TTC>TTT p.F238F SLC7A8_uc001wix.2_Silent_p.F35F|SLC7A8_uc010tnk.1_Intron|SLC7A8_uc010tnl.1_Silent_p.F133F|SLC7A8_uc001wiy.2_RNA|SLC7A8_uc010akj.2_Silent_p.F238F NM_012244 NP_036376 Q9UHI5 LAT2_HUMAN solute carrier family 7 (cationic amino acid 238 Helical; (Potential). blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin basolateral plasma membrane|cytoplasm|integral to plasma membrane neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity ovary(1) 1 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.00809) L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120) AGCCCTGAAGGAAAGCCAGTG 0.502 NA 13 164 0 0 0 0 KCNH5 27133 broad.mit.edu 37 14 63468148 63468148 + Missense_Mutation SNP C C T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr14:63468148C>T uc001xfx.2 - 4 385 c.334G>A c.(334-336)GCA>ACA p.A112T KCNH5_uc001xfy.2_Missense_Mutation_p.A112T|KCNH5_uc001xfz.1_Missense_Mutation_p.A54T|KCNH5_uc001xga.2_Missense_Mutation_p.A54T NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 112 PAC.|Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) CTTATTGGTGCAATTTGCATA 0.423 NA 4 20 0 0 0 0 EXD2 55218 broad.mit.edu 37 14 69701570 69701570 + Missense_Mutation SNP C C G TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr14:69701570C>G uc001xkt.2 + 7 1155 c.496C>G c.(496-498)CCA>GCA p.P166A EXD2_uc001xku.2_Missense_Mutation_p.P36A|EXD2_uc001xkv.2_Missense_Mutation_p.P291A|EXD2_uc001xkw.2_Missense_Mutation_p.P166A|EXD2_uc010aqt.2_Missense_Mutation_p.P291A|EXD2_uc010tte.1_Missense_Mutation_p.P291A|EXD2_uc001xky.2_Missense_Mutation_p.P166A NM_018199 NP_060669 Q9NVH0 EXD2_HUMAN exonuclease 3'-5' domain containing 2 166 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding 0 GGTCGACATCCCATTTCGAAG 0.443 NA 9 45 0 0 0 0 DMXL2 23312 broad.mit.edu 37 15 51741321 51741321 + Nonsense_Mutation SNP G G A TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr15:51741321G>A uc002abf.2 - 43 9196 c.8971C>T c.(8971-8973)CGA>TGA p.R2991* DMXL2_uc002abd.2_Nonsense_Mutation_p.R1083*|DMXL2_uc010ufy.1_Nonsense_Mutation_p.R2992*|DMXL2_uc010bfa.2_Nonsense_Mutation_p.R2355*|DMXL2_uc002abc.2_RNA NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2991 cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) CCAATGTTTCGAAATATGGAC 0.438 NA 6 43 0 0 0 0 SLC28A1 9154 broad.mit.edu 37 15 85488064 85488064 + Missense_Mutation SNP G G C TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr15:85488064G>C uc002blg.2 + 18 2042 c.1840G>C c.(1840-1842)GAG>CAG p.E614Q SLC28A1_uc010bnb.2_Missense_Mutation_p.E614Q|SLC28A1_uc010upe.1_Missense_Mutation_p.E448Q|SLC28A1_uc010upf.1_Missense_Mutation_p.E614Q|SLC28A1_uc010upg.1_Intron NM_004213 NP_004204 O00337 S28A1_HUMAN solute carrier family 28, member 1 isoform 1 614 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding skin(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(143;0.0587) CAGTAGCTTTGAGATTTACCA 0.592 NA 14 48 0 0 0 0 MYLK3 91807 broad.mit.edu 37 16 46766444 46766444 + Missense_Mutation SNP G G A TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr16:46766444G>A uc002eei.3 - 4 1254 c.1138C>T c.(1138-1140)CGC>TGC p.R380C MYLK3_uc010vge.1_Missense_Mutation_p.R39C|MYLK3_uc002eej.1_Missense_Mutation_p.R39C NM_182493 NP_872299 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 380 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1) 7 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) TGGAGGCAGCGCCCGGTCCCA 0.687 NA 7 25 0 0 0 0 KIAA1609 57707 broad.mit.edu 37 16 84520478 84520478 + Silent SNP G G T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr16:84520478G>T uc002fib.2 - 5 824 c.717C>A c.(715-717)GGC>GGA p.G239G KIAA1609_uc010vod.1_Silent_p.G212G|KIAA1609_uc002fic.2_RNA NM_020947 NP_065998 Q6P9B6 K1609_HUMAN hypothetical protein LOC57707 239 protein binding ovary(2) 2 CAAAACCCCTGCCCTGGTCCA 0.567 NA 9 32 0.000274275 0.000639975 1 0 KIAA0100 9703 broad.mit.edu 37 17 26968962 26968962 + Missense_Mutation SNP C C G TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr17:26968962C>G uc002hbu.2 - 7 810 c.711G>C c.(709-711)CAG>CAC p.Q237H KIAA0100_uc002hbv.2_Missense_Mutation_p.Q237H|KIAA0100_uc010crr.1_Missense_Mutation_p.Q94H NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 237 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) GCAGTTGGCTCTGGAAGAGGC 0.547 NA 15 63 0 0 0 0 EVPL 2125 broad.mit.edu 37 17 74006565 74006565 + Silent SNP A A G TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr17:74006565A>G uc002jqi.2 - 22 2949 c.2721T>C c.(2719-2721)CCT>CCC p.P907P EVPL_uc010wss.1_Silent_p.P929P|EVPL_uc010wst.1_Silent_p.P377P NM_001988 NP_001979 Q92817 EVPL_HUMAN envoplakin 907 Central fibrous rod domain.|Potential. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity pancreas(2)|central_nervous_system(1)|skin(1) 4 CTGCTTGGGCAGGGCTCTCGG 0.642 NA 10 34 0 0 0 0 B3GNT3 10331 broad.mit.edu 37 19 17918902 17918902 + Nonsense_Mutation SNP C C T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr19:17918902C>T uc002nhk.1 + 2 371 c.286C>T c.(286-288)CAG>TAG p.Q96* B3GNT3_uc002nhl.1_Nonsense_Mutation_p.Q96*|B3GNT3_uc010ebd.1_Nonsense_Mutation_p.Q96*|B3GNT3_uc010ebe.1_Nonsense_Mutation_p.Q96* NM_014256 NP_055071 Q9Y2A9 B3GN3_HUMAN UDP-GlcNAc:betaGal 96 Lumenal (Potential). protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity upper_aerodigestive_tract(1) 1 TCCCCTGCTGCAGGACGTGCC 0.637 NA 4 27 0 0 0 0 ZNF568 374900 broad.mit.edu 37 19 37440779 37440779 + Nonsense_Mutation SNP C C T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr19:37440779C>T uc002ofc.2 + 7 1239 c.724C>T c.(724-726)CGA>TGA p.R242* ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Nonsense_Mutation_p.R166*|ZNF568_uc010efe.2_Nonsense_Mutation_p.R166*|ZNF568_uc010eff.1_Intron NM_198539 NP_940941 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 242 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TAGACATGAGCGAATTCATGC 0.378 NA 7 46 0 0 0 0 TBC1D17 79735 broad.mit.edu 37 19 50385367 50385367 + Silent SNP C C T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr19:50385367C>T uc002pqo.2 + 6 749 c.597C>T c.(595-597)CAC>CAT p.H199H TBC1D17_uc010enn.1_RNA|TBC1D17_uc010ybg.1_Silent_p.H166H|TBC1D17_uc002pqp.2_5'UTR|TBC1D17_uc002pqq.1_RNA|TBC1D17_uc002pqr.2_5'UTR|TBC1D17_uc002pqs.2_5'Flank NM_024682 NP_078958 Q9HA65 TBC17_HUMAN TBC1 domain family, member 17 199 intracellular Rab GTPase activator activity 0 all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017) ACTCCTTCCACCACCTGCAGC 0.647 NA 12 260 0 0 0 0 SHANK1 50944 broad.mit.edu 37 19 51200915 51200915 + Missense_Mutation SNP C C T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr19:51200915C>T uc002psx.1 - 13 1887 c.1868G>A c.(1867-1869)CGC>CAC p.R623H NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 623 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding large_intestine(2) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) CTTGTCACTGCGGCTTTCTGC 0.547 NA 11 82 0 0 0 0 ZNF17 7565 broad.mit.edu 37 19 57931031 57931031 + Silent SNP G G A TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr19:57931031G>A uc002qoo.1 + 3 402 c.171G>A c.(169-171)GAG>GAA p.E57E ZNF547_uc002qpm.3_Intron|ZNF17_uc002qop.1_Silent_p.E59E NM_006959 NP_008890 P17021 ZNF17_HUMAN zinc finger protein 17 57 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176) AGGATGAGGAGGCACCTTCCA 0.493 NA 16 65 0 0 0 0 CYP1B1 1545 broad.mit.edu 37 2 38302533 38302533 + Splice_Site SNP C C T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr2:38302533C>T uc002rqo.2 - 3 403 c.0_splice c.e3-1 NM_000104 NP_000095 Q16678 CP1B1_HUMAN cytochrome P450, family 1, subfamily B, visual perception|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding ovary(1)|central_nervous_system(1) 2 all_hematologic(82;0.21) Estrone(DB00655) GGTGCCCATGCTGGGGACAGA 0.667 NA 7 40 0 0 0 0 DUSP2 1844 broad.mit.edu 37 2 96809654 96809654 + Missense_Mutation SNP C C T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr2:96809654C>T uc002svk.3 - 4 939 c.853G>A c.(853-855)GAC>AAC p.D285N NM_004418 NP_004409 Q05923 DUS2_HUMAN dual specificity phosphatase 2 285 Tyrosine-protein phosphatase. endoderm formation|inactivation of MAPK activity|regulation of apoptosis nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity breast(1) 1 Ovarian(717;0.0228) TTAACGAAGTCAAAGGCCTCG 0.622 NA 7 21 0 0 0 0 DNAH7 56171 broad.mit.edu 37 2 196729451 196729451 + Missense_Mutation SNP G G C TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr2:196729451G>C uc002utj.3 - 41 7029 c.6928C>G c.(6928-6930)CCC>GCC p.P2310A NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2310 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 AGGTTCATGGGTTTTTTGCTT 0.433 NA 7 104 0 0 0 0 WFDC8 90199 broad.mit.edu 37 20 44180733 44180733 + Missense_Mutation SNP C C G TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr20:44180733C>G uc002xow.2 - 6 737 c.658G>C c.(658-660)GAG>CAG p.E220Q WFDC8_uc002xox.2_Missense_Mutation_p.E220Q NM_181510 NP_852611 Q8IUA0 WFDC8_HUMAN WAP four-disulfide core domain 8 precursor 220 WAP 3. extracellular region serine-type endopeptidase inhibitor activity 0 Myeloproliferative disorder(115;0.0122) GGGCACTCCTCATCCTGCAGG 0.423 NA 13 89 0 0 0 0 GRIK1 2897 broad.mit.edu 37 21 30934006 30934006 + Nonsense_Mutation SNP G G T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr21:30934006G>T uc002yno.1 - 15 2759 c.2295C>A c.(2293-2295)TGC>TGA p.C765* GRIK1_uc002ynn.2_Nonsense_Mutation_p.C750*|GRIK1_uc011acs.1_Nonsense_Mutation_p.C765*|GRIK1_uc011act.1_Nonsense_Mutation_p.C626* NM_000830 NP_000821 P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 765 Extracellular (Potential). central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity large_intestine(1)|ovary(1)|skin(1) 3 L-Glutamic Acid(DB00142)|Topiramate(DB00273) GAGTGAGGTTGCAGTTTCTCT 0.507 NA 11 58 7.04e-09 1.72e-08 1 0 MX2 4600 broad.mit.edu 37 21 42754440 42754440 + Silent SNP C C T rs145539486 byFrequency TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr21:42754440C>T uc002yzf.1 + 5 785 c.681C>T c.(679-681)CCC>CCT p.P227P MX2_uc011aer.1_RNA NM_002463 NP_002454 P20592 MX2_HUMAN myxovirus resistance protein 2 227 GTP (Potential). response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity ovary(2) 2 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) TTGACCTTCCCGGCATCACCA 0.602 NA 9 78 0 0 0 0 CABP7 164633 broad.mit.edu 37 22 30125152 30125152 + Missense_Mutation SNP G G A TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr22:30125152G>A uc003agl.2 + 4 545 c.475G>A c.(475-477)GAG>AAG p.E159K NM_182527 NP_872333 Q86V35 CABP7_HUMAN calcium binding protein 7 159 Cytoplasmic (Potential). Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding 0 OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233) GACGGAGGAGGAGAGCCACCT 0.617 NA 6 21 0 0 0 0 MICALL1 85377 broad.mit.edu 37 22 38328571 38328571 + Missense_Mutation SNP C C G TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr22:38328571C>G uc003aui.2 + 11 2112 c.2028C>G c.(2026-2028)GAC>GAG p.D676E NM_033386 NP_203744 Q8N3F8 MILK1_HUMAN molecule interacting with Rab13 676 cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1) 1 Melanoma(58;0.045) TCCAGGCTGACCAGTACATCC 0.632 NA 14 70 0 0 0 0 PARP3 10039 broad.mit.edu 37 3 51978492 51978492 + Silent SNP C C A TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr3:51978492C>A uc003dby.2 + 4 770 c.399C>A c.(397-399)ACC>ACA p.T133T RRP9_uc003dbw.1_5'Flank|PARP3_uc003dbz.2_Silent_p.T140T NM_005485 NP_005476 Q9Y6F1 PARP3_HUMAN poly (ADP-ribose) polymerase family, member 3 133 DNA repair|protein ADP-ribosylation centriole|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) GGGAAAAGACCAAGAACAACT 0.517 NA 29 107 7.01e-11 1.75e-10 1 0 TRIM42 287015 broad.mit.edu 37 3 140401851 140401851 + Missense_Mutation SNP C C T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr3:140401851C>T uc003eto.1 + 2 1080 c.889C>T c.(889-891)CGC>TGC p.R297C NM_152616 NP_689829 Q8IWZ5 TRI42_HUMAN tripartite motif-containing 42 297 B box-type 2. intracellular zinc ion binding lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1) 7 CCCATCCAGCCGCATCATCGA 0.552 NA 7 39 0 0 0 0 BCHE 590 broad.mit.edu 37 3 165547361 165547361 + Silent SNP G G A rs74458984 TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr3:165547361G>A uc003fem.3 - 2 1621 c.1461C>T c.(1459-1461)GCC>GCT p.A487A BCHE_uc003fen.3_Intron NM_000055 NP_000046 P06276 CHLE_HUMAN butyrylcholinesterase precursor 487 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding ovary(3)|pancreas(1) 4 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) AAATTTCCTCGGCTTTTGTGT 0.403 NA 20 53 0 0 0 0 CCKAR 886 broad.mit.edu 37 4 26483643 26483643 + Missense_Mutation SNP C C T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr4:26483643C>T uc003gse.1 - 5 1057 c.904G>A c.(904-906)GCA>ACA p.A302T NM_000730 NP_000721 P32238 CCKAR_HUMAN cholecystokinin A receptor 302 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity lung(3)|pancreas(1) 4 Breast(46;0.0503) Ceruletide(DB00403) AGGTTGGCTGCGGAGCTGTTA 0.612 NA 25 123 0 0 0 0 ODZ3 55714 broad.mit.edu 37 4 183721257 183721257 + Missense_Mutation SNP C C T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr4:183721257C>T uc003ivd.1 + 27 7890 c.7853C>T c.(7852-7854)GCG>GTG p.A2618V NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 2618 Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) GAGGAGAAGGCGCGCATCCTG 0.751 NA 4 11 0 0 0 0 HIST1H2AM 8336 broad.mit.edu 37 6 27860847 27860847 + Silent SNP A A G TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr6:27860847A>G uc003nkb.1 - 1 117 c.81T>C c.(79-81)CCT>CCC p.P27P HIST1H3J_uc003nka.2_5'Flank|HIST1H2BO_uc003nkc.1_5'Flank NM_003514 NP_003505 P0C0S8 H2A1_HUMAN histone cluster 1, H2am 27 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding ovary(2) 2 CTCGTCCTACAGGAAATTGGA 0.647 NA 12 54 0 0 0 0 IP6K3 117283 broad.mit.edu 37 6 33690810 33690810 + Missense_Mutation SNP C C T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr6:33690810C>T uc010jvf.2 - 7 1456 c.920G>A c.(919-921)CGG>CAG p.R307Q IP6K3_uc003ofb.2_Missense_Mutation_p.R307Q NM_001142883 NP_001136355 Q96PC2 IP6K3_HUMAN inositol hexakisphosphate kinase 3 307 inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity 0 GAGGAGGGCCCGGAGCTGGTG 0.552 NA 4 38 0 0 0 0 AQP1 358 broad.mit.edu 37 7 30951738 30951738 + Missense_Mutation SNP G G A TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr7:30951738G>A uc003tbv.1 + 1 271 c.214G>A c.(214-216)GGC>AGC p.G72S AQP1_uc011kac.1_Missense_Mutation_p.G132S NM_198098 NP_932766 P29972 AQP1_HUMAN aquaporin 1 72 ammonium transport|cell volume homeostasis|cellular hyperosmotic response|cellular response to cAMP|cellular response to copper ion|cellular response to dexamethasone stimulus|cellular response to hydrogen peroxide|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to mercury ion|cellular response to nitric oxide|cellular response to retinoic acid|cellular response to salt stress|cellular response to UV|cerebrospinal fluid secretion|cGMP biosynthetic process|establishment or maintenance of actin cytoskeleton polarity|lateral ventricle development|maintenance of symbiont-containing vacuole via substance secreted by host|negative regulation of apoptosis|odontogenesis|pancreatic juice secretion|positive regulation of angiogenesis|positive regulation of fibroblast proliferation|positive regulation of saliva secretion|renal water transport|response to drug|transepithelial water transport apical plasma membrane|basal plasma membrane|brush border membrane|cytoplasm|integral to plasma membrane|nuclear membrane|sarcolemma|symbiont-containing vacuole ammonia transmembrane transporter activity|carbon dioxide transmembrane transporter activity|glycerol transmembrane transporter activity|intracellular cGMP activated cation channel activity|nitric oxide transmembrane transporter activity|potassium channel activity|potassium ion transmembrane transporter activity|protein binding|water channel activity 0 Melanoma(862;0.16) Acetazolamide(DB00819) CCACATCAGCGGCGCCCACCT 0.657 NA 6 50 0 0 0 0 TRIM50 135892 broad.mit.edu 37 7 72730600 72730600 + Missense_Mutation SNP T T C TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr7:72730600T>C uc010lbd.1 - 6 963 c.838A>G c.(838-840)ACC>GCC p.T280A FKBP6_uc003twz.2_Intron|TRIM50_uc003txy.1_Missense_Mutation_p.T280A|TRIM50_uc003txz.1_Missense_Mutation_p.T279A NM_178125 NP_835226 Q86XT4 TRI50_HUMAN tripartite motif protein 50A 280 B30.2/SPRY. cytoplasm|intracellular membrane-bounded organelle ligase activity|zinc ion binding skin(1) 1 TTCCACACGGTCAGCTTGATG 0.617 NA 8 42 0 0 0 0 SLC13A4 26266 broad.mit.edu 37 7 135390963 135390963 + Missense_Mutation SNP C C T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr7:135390963C>T uc003vta.2 - 4 1140 c.451G>A c.(451-453)GTG>ATG p.V151M SLC13A4_uc003vtb.2_Missense_Mutation_p.V151M NM_012450 NP_036582 Q9UKG4 S13A4_HUMAN solute carrier family 13 (sodium/sulfate 151 integral to plasma membrane sodium:sulfate symporter activity 0 ACGGCCTCCACGATGGGCATC 0.612 NA 10 59 0 0 0 0 KIAA0196 9897 broad.mit.edu 37 8 126067886 126067886 + Missense_Mutation SNP T T C TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr8:126067886T>C uc003yrt.2 - 17 2373 c.2044A>G c.(2044-2046)ATT>GTT p.I682V KIAA0196_uc011lir.1_Missense_Mutation_p.I534V|KIAA0196_uc003yru.1_Missense_Mutation_p.I256V NM_014846 NP_055661 Q12768 STRUM_HUMAN strumpellin 682 cell death WASH complex ovary(2) 2 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) TCAGTAAAAATGGAAATAGCA 0.383 NA 29 113 0 0 0 0 ZNF618 114991 broad.mit.edu 37 9 116750680 116750680 + Missense_Mutation SNP G G C TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr9:116750680G>C uc004bid.2 + 3 256 c.157G>C c.(157-159)GAG>CAG p.E53Q ZNF618_uc004bib.1_Missense_Mutation_p.E53Q|ZNF618_uc004bic.2_Missense_Mutation_p.E53Q|ZNF618_uc011lxi.1_Missense_Mutation_p.E53Q|ZNF618_uc011lxj.1_Missense_Mutation_p.E53Q NM_133374 NP_588615 Q5T7W0 ZN618_HUMAN zinc finger protein 618 53 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GCTGAGTGCCGAGCAAGGAAC 0.612 NA 6 22 0 0 0 0 CEP110 11064 broad.mit.edu 37 9 123860779 123860779 + Missense_Mutation SNP C C T TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr9:123860779C>T uc004bkx.1 + 5 768 c.737C>T c.(736-738)TCA>TTA p.S246L CEP110_uc004bkw.2_Missense_Mutation_p.S246L NM_007018 NP_008949 Q7Z7A1 CNTRL_HUMAN centrosomal protein 110kDa 246 LRRCT. cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding 0 CACCTCCGTTCATTGGAAAGT 0.373 NA 8 27 0 0 0 0 TEK 7010 broad.mit.edu 37 9 27220064 27220064 + Frame_Shift_Del DEL G G - TCGA-CQ-6227-01A-11D-1912-08 TCGA-CQ-6227-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ca62509e-d477-41ca-9bc2-3f20c2dd4e49 5c2ca813-1c97-44ea-ab63-2e35604115d6 g.chr9:27220064delG uc003zqi.3 + 21 3563 c.3121delG c.(3121-3123)GGGfs p.G1041fs TEK_uc011lno.1_Frame_Shift_Del_p.G998fs|TEK_uc011lnp.1_Frame_Shift_Del_p.G893fs NM_000459 NP_000450 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial precursor 1041 Protein kinase.|Cytoplasmic (Potential). angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1) 12 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) ACCCTACTGCGGGATGACTTG 0.527 NA 27 89 --- --- --- --- NA NA NA NA