Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut CDC42 998 broad.mit.edu 37 1 22413237 22413237 + Missense_Mutation SNP G G A TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr1:22413237G>A uc001bfq.2 + 6 656 c.364G>A c.(364-366)GAC>AAC p.D122N CDC42_uc009vqg.1_Missense_Mutation_p.D122N|CDC42_uc001bfp.2_Missense_Mutation_p.D122N|CDC42_uc001bfr.2_Missense_Mutation_p.D122N|CDC42_uc010odr.1_Missense_Mutation_p.D167N|CDC42_uc010ods.1_Missense_Mutation_p.D164N|CDC42_uc009vqh.2_Missense_Mutation_p.D81N NM_001039802 NP_001034891 P60953 CDC42_HUMAN cell division cycle 42 isoform 1 122 actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|filopodium|plasma membrane GTP binding|GTPase activity|protein binding|thioesterase binding haematopoietic_and_lymphoid_tissue(1) 1 Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792) UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207) TCTCAGAGATGACCCCTCTAC 0.433 NA 28 161 0 0 0.004656 0 0 GNL2 29889 broad.mit.edu 37 1 38033912 38033912 + Missense_Mutation SNP G G T TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr1:38033912G>T uc001cbk.2 - 14 2078 c.1915C>A c.(1915-1917)CAA>AAA p.Q639K NM_013285 NP_037417 Q13823 NOG2_HUMAN guanine nucleotide binding protein-like 2 639 ribosome biogenesis nucleolus GTP binding|GTPase activity|protein binding ovary(1)|central_nervous_system(1) 2 Myeloproliferative disorder(586;0.0393) GTTTTTCTTTGTTCTTCAGGT 0.343 NA 17 44 0.00152264 0.00166765 0.010504 1 0 PTPRF 5792 broad.mit.edu 37 1 44086229 44086229 + Silent SNP G G A TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr1:44086229G>A uc001cjr.2 + 31 5683 c.5343G>A c.(5341-5343)GAG>GAA p.E1781E PTPRF_uc001cjs.2_Silent_p.E1772E|PTPRF_uc001cju.2_Silent_p.E1170E|PTPRF_uc009vwt.2_Silent_p.E1341E|PTPRF_uc001cjv.2_Silent_p.E1252E|PTPRF_uc001cjw.2_Silent_p.E1007E NM_002840 NP_002831 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1781 Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1) 10 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) TCCTGCGTGAGTTCAAGGTCA 0.562 NA 33 81 0 0 0.006999 0 0 PKN2 5586 broad.mit.edu 37 1 89250394 89250394 + Missense_Mutation SNP C C T TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr1:89250394C>T uc001dmn.2 + 7 1400 c.1058C>T c.(1057-1059)TCA>TTA p.S353L PKN2_uc001dmm.1_Missense_Mutation_p.S353L|PKN2_uc010osp.1_Missense_Mutation_p.S353L|PKN2_uc010osq.1_Missense_Mutation_p.S196L|PKN2_uc009wcv.2_Missense_Mutation_p.S353L|PKN2_uc010osr.1_Missense_Mutation_p.S18L NM_006256 NP_006247 Q16513 PKN2_HUMAN protein kinase N2 353 C2. signal transduction cytoplasm ATP binding|histone deacetylase binding|protein kinase C activity large_intestine(1)|lung(1)|skin(1) 3 Lung NSC(277;0.123) all cancers(265;0.0136)|Epithelial(280;0.0301) AAAGCAACATCAGTTGCACTG 0.423 NA 4 70 0 0 0.009096 0 0 VTCN1 79679 broad.mit.edu 37 1 117695862 117695862 + Missense_Mutation SNP G G A rs145818315 byFrequency TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr1:117695862G>A uc001ehb.2 - 4 647 c.575C>T c.(574-576)TCG>TTG p.S192L VTCN1_uc001ehc.2_Missense_Mutation_p.S97L|VTCN1_uc009whf.1_Missense_Mutation_p.S76L NM_024626 NP_078902 Q7Z7D3 VTCN1_HUMAN V-set domain containing T cell activation 192 Extracellular (Potential).|Ig-like V-type 2. integral to membrane|plasma membrane 0 Lung SC(450;0.225) all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05) Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23) GGAGACTTCCGAGAAGTTGGC 0.517 NA 5 93 0 0 0.014758 0 0 CD244 51744 broad.mit.edu 37 1 160808748 160808748 + Missense_Mutation SNP C C G TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr1:160808748C>G uc009wtq.2 - 4 940 c.762G>C c.(760-762)AAG>AAC p.K254N CD244_uc001fxa.2_Missense_Mutation_p.K249N|CD244_uc009wtp.2_RNA|CD244_uc009wtr.2_Missense_Mutation_p.K157N|CD244_uc010pjt.1_RNA NM_016382 NP_057466 Q9BZW8 CD244_HUMAN CD244 natural killer cell receptor 2B4 254 Cytoplasmic (Potential). blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|receptor activity ovary(1) 1 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TCTCCTTCCTCTTTCTCCTCC 0.522 NA 10 32 0 0 0.008291 0 0 ITIH5 80760 broad.mit.edu 37 10 7621881 7621881 + Missense_Mutation SNP T T A TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr10:7621881T>A uc001ijq.2 - 9 1334 c.1255A>T c.(1255-1257)ATC>TTC p.I419F ITIH5_uc001ijp.2_Missense_Mutation_p.I205F|ITIH5_uc001ijr.1_Missense_Mutation_p.I419F NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain 419 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 TTGTTGAGGATCTTGAGGGTG 0.607 NA 4 39 0 0 0.009096 0 0 C10orf68 79741 broad.mit.edu 37 10 32983870 32983870 + Missense_Mutation SNP A A G TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr10:32983870A>G uc001iwn.3 + 6 802 c.329A>G c.(328-330)GAA>GGA p.E110G C10orf68_uc001iwl.1_Missense_Mutation_p.E118G|C10orf68_uc001iwm.1_Intron|C10orf68_uc010qei.1_Missense_Mutation_p.E37G NM_024688 NP_078964 Q9H943 CJ068_HUMAN chromosome 10 open reading frame 68 110 skin(2)|ovary(1) 3 TCAAAACTGGAAATGCAAATT 0.289 NA 3 28 0 0 0.004672 0 0 ANK3 288 broad.mit.edu 37 10 61946480 61946480 + Missense_Mutation SNP C C A TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr10:61946480C>A uc001jky.2 - 17 2270 c.2078G>T c.(2077-2079)AGC>ATC p.S693I ANK3_uc010qih.1_Missense_Mutation_p.S676I|ANK3_uc001jkz.3_Missense_Mutation_p.S687I|ANK3_uc001jlb.1_Missense_Mutation_p.S222I|ANK3_uc001jlc.1_Missense_Mutation_p.S354I NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 693 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 TACCTTATTGCTCAGGTTCAC 0.493 NA 4 19 0.00024832 0.000276356 0.009096 1 0 LOC653544 653544 broad.mit.edu 37 10 135491125 135491125 + Missense_Mutation SNP G G A rs140402194 by1000genomes TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr10:135491125G>A uc010qvi.1 + 1 847 c.736G>A c.(736-738)GCG>ACG p.A246T NM_001127389 NP_001120861 F5GZ66 F5GZ66_HUMAN double homeobox, 4-like 246 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CCACACCGGCGCGTGGGGAAC 0.781 NA 3 21 0 0 0.001168 0 0 ART1 417 broad.mit.edu 37 11 3681250 3681250 + Silent SNP C C T rs147920431 byFrequency TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr11:3681250C>T uc001lye.1 + 3 602 c.501C>T c.(499-501)AGC>AGT p.S167S ART1_uc009yeb.1_Silent_p.S167S NM_004314 NP_004305 P52961 NAR1_HUMAN ADP-ribosyltransferase 1 precursor 167 protein ADP-ribosylation anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity 0 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195) Becaplermin(DB00102) TCCTGGGCAGCGGCCAGCGTC 0.706 NA 4 51 0 0 0.009096 0 0 OR51A7 119687 broad.mit.edu 37 11 4929450 4929450 + Missense_Mutation SNP C C T TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr11:4929450C>T uc010qyq.1 + 1 851 c.851C>T c.(850-852)CCC>CTC p.P284L NM_001004749 NP_001004749 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, 284 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) TTGGTGCCGCCCCTTATGAAC 0.453 NA 28 77 0 0 0.012213 0 0 OR2D3 120775 broad.mit.edu 37 11 6942529 6942529 + Silent SNP T T C TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr11:6942529T>C uc010rav.1 + 1 297 c.297T>C c.(295-297)GTT>GTC p.V99V NM_001004684 NP_001004684 Q8NGH3 OR2D3_HUMAN olfactory receptor, family 2, subfamily D, 99 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) AAGTGTTGGTTCACTTCTTGG 0.423 NA 60 107 0 0 0.01441 0 0 OR5AS1 219447 broad.mit.edu 37 11 55798207 55798207 + Missense_Mutation SNP G G A TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr11:55798207G>A uc010riw.1 + 1 313 c.313G>A c.(313-315)GCT>ACT p.A105T NM_001001921 NP_001001921 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, 105 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|liver(1)|skin(1) 5 Esophageal squamous(21;0.00693) GTTTTTCTTCGCTTCTTTTGC 0.463 NA 9 46 0 0 0.004482 0 0 SHANK2 22941 broad.mit.edu 37 11 70331681 70331681 + Missense_Mutation SNP C C G TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr11:70331681C>G uc001oqc.2 - 21 4795 c.4717G>C c.(4717-4719)GAT>CAT p.D1573H SHANK2_uc010rqn.1_Missense_Mutation_p.D985H|SHANK2_uc001opz.2_Missense_Mutation_p.D978H|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 1194 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) ACAAAGCTATCTACATCTTCT 0.413 NA 30 67 0 0 0.013726 0 0 SLC6A13 6540 broad.mit.edu 37 12 346415 346415 + Missense_Mutation SNP C C G TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr12:346415C>G uc001qic.1 - 6 658 c.605G>C c.(604-606)GGG>GCG p.G202A SLC6A13_uc009zdj.1_Missense_Mutation_p.G202A|SLC6A13_uc010sdl.1_Missense_Mutation_p.G110A|SLC6A13_uc010sdm.1_Missense_Mutation_p.G83A NM_016615 NP_057699 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter 202 Extracellular (Potential). neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) GCGCAGGGCCCCCAGGTGCTG 0.602 NA 5 66 0 0 0.001168 0 0 GOLGA3 2802 broad.mit.edu 37 12 133385015 133385015 + Missense_Mutation SNP G G A TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr12:133385015G>A uc001ukz.1 - 5 1199 c.640C>T c.(640-642)CGC>TGC p.R214C GOLGA3_uc001ula.1_Missense_Mutation_p.R214C|GOLGA3_uc001ulb.2_Missense_Mutation_p.R214C NM_005895 NP_005886 Q08378 GOGA3_HUMAN Golgi autoantigen, golgin subfamily a, 3 214 Golgi-targeting domain. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) ACACTGGTGCGCAGGAAGGAA 0.512 NA 81 222 0 0 0.01441 0 0 MYH7 4625 broad.mit.edu 37 14 23883310 23883310 + Missense_Mutation SNP G G A TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr14:23883310G>A uc001wjx.2 - 38 5667 c.5561C>T c.(5560-5562)ACG>ATG p.T1854M NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1854 Potential. T -> M (in CMH1). adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GTCCTCCTCCGTCTGGGGGCC 0.597 NA 17 40 0 0 0.006122 0 0 THBS1 7057 broad.mit.edu 37 15 39874029 39874029 + Splice_Site SNP G G A TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr15:39874029G>A uc001zkh.2 + 2 151 c.-28_splice c.e2-1 NM_003246 NP_003237 P07996 TSP1_HUMAN thrombospondin 1 precursor activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding ovary(3)|central_nervous_system(3) 6 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) TCCTGCTACAGGATCCCTGCT 0.637 NA OREG0023050 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 27 0 0 0.009096 0 0 SLC28A2 9153 broad.mit.edu 37 15 45555437 45555437 + Silent SNP G G A TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr15:45555437G>A uc001zva.2 + 5 506 c.441G>A c.(439-441)ACG>ACA p.T147T NM_004212 NP_004203 O43868 S28A2_HUMAN solute carrier family 28 (sodium-coupled 147 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity ovary(4) 4 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) GGCTTTGGACGAAATGGTAAG 0.453 NSCLC(92;493 1501 26361 28917 47116) NA 16 26 0 0 0.006122 0 0 STOML1 9399 broad.mit.edu 37 15 74281502 74281502 + Missense_Mutation SNP A A C TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr15:74281502A>C uc002awe.2 - 3 408 c.337T>G c.(337-339)TCC>GCC p.S113A STOML1_uc002awf.2_Missense_Mutation_p.S113A|STOML1_uc010bje.2_Missense_Mutation_p.S113A|STOML1_uc010uld.1_Missense_Mutation_p.S71A|STOML1_uc002awh.2_Intron|STOML1_uc002awg.2_Intron|STOML1_uc002awi.2_Missense_Mutation_p.S26A NM_004809 NP_004800 Q9UBI4 STML1_HUMAN stomatin (EPB72)-like 1 113 Cytoplasmic (Potential). integral to membrane sterol binding skin(1) 1 CTCTGAAAGGAGTCAATGAAG 0.607 NA 7 23 0 0 0.001984 0 0 BTBD12 84464 broad.mit.edu 37 16 3647557 3647557 + Silent SNP T T C TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr16:3647557T>C uc002cvp.2 - 7 2133 c.1506A>G c.(1504-1506)CCA>CCG p.P502P NM_032444 NP_115820 Q8IY92 SLX4_HUMAN BTB (POZ) domain containing 12 502 Interaction with C20orf94, ERCC4 and MSH2. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding 0 TGGCAGGAAGTGGTGGCGTGC 0.567 NA Direct_reversal_of_damage|Homologous_recombination FanconAnemia 4 66 0 0 0.009096 0 0 ABCC12 94160 broad.mit.edu 37 16 48145406 48145406 + Missense_Mutation SNP C C T TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr16:48145406C>T uc002efc.1 - 16 2568 c.2222G>A c.(2221-2223)GGA>GAA p.G741E ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA NM_033226 NP_150229 Q96J65 MRP9_HUMAN ATP-binding cassette protein C12 741 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 all_cancers(37;0.0474)|all_lung(18;0.047) TTTCTCATTTCCTGGAGCCAA 0.403 NA 26 149 0 0 0.005443 0 0 TAF1C 9013 broad.mit.edu 37 16 84213451 84213451 + Missense_Mutation SNP G G C TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr16:84213451G>C uc002fhn.2 - 14 1934 c.1706C>G c.(1705-1707)GCT>GGT p.A569G TAF1C_uc002fhm.2_Missense_Mutation_p.A475G|TAF1C_uc010vnx.1_Missense_Mutation_p.A543G|TAF1C_uc010vny.1_Missense_Mutation_p.A160G|TAF1C_uc010vnz.1_Missense_Mutation_p.A237G|TAF1C_uc002fho.2_Missense_Mutation_p.A92G|TAF1C_uc010voa.1_Missense_Mutation_p.A237G|TAF1C_uc002fhp.1_Intron NM_005679 NP_005670 Q15572 TAF1C_HUMAN TBP-associated factor 1C isoform 1 569 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding ovary(1) 1 GACGACGGCAGCCAGACCTGG 0.677 NA 6 5 0 0 0.001168 0 0 DEF8 54849 broad.mit.edu 37 16 90028237 90028237 + Missense_Mutation SNP C C A TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr16:90028237C>A uc002fpn.1 + 8 1044 c.955C>A c.(955-957)CGC>AGC p.R319S DEF8_uc002fpo.1_Missense_Mutation_p.R258S|DEF8_uc002fpp.1_Missense_Mutation_p.R248S|DEF8_uc010vpq.1_Missense_Mutation_p.R198S|DEF8_uc010vpr.1_Missense_Mutation_p.R258S|DEF8_uc002fpq.1_5'Flank NM_207514 NP_997397 Q6ZN54 DEFI8_HUMAN differentially expressed in FDCP 8 isoform 1 319 intracellular signal transduction zinc ion binding central_nervous_system(1) 1 all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0274) GATCCCTGCACGCGTTGTACA 0.642 NA 6 24 2.7689e-08 3.18423e-08 0.001984 1 0 ZBTB4 57659 broad.mit.edu 37 17 7369753 7369753 + Missense_Mutation SNP G G A TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr17:7369753G>A uc002ghc.3 - 3 618 c.368C>T c.(367-369)CCC>CTC p.P123L ZBTB4_uc002ghd.3_Missense_Mutation_p.P123L NM_001128833 NP_001122305 Q9P1Z0 ZBTB4_HUMAN zinc finger and BTB domain containing 4 123 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) CAGGACCCGGGGTGGGGAAGA 0.438 NA 3 4 0 0 0.004672 0 0 TP53 7157 broad.mit.edu 37 17 7578442 7578442 + Missense_Mutation SNP T T C rs148924904 TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr17:7578442T>C uc002gim.2 - 5 682 c.488A>G c.(487-489)TAC>TGC p.Y163C TP53_uc002gig.1_Missense_Mutation_p.Y163C|TP53_uc002gih.2_Missense_Mutation_p.Y163C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y31C|TP53_uc010cng.1_Missense_Mutation_p.Y31C|TP53_uc002gii.1_Missense_Mutation_p.Y31C|TP53_uc010cnh.1_Missense_Mutation_p.Y163C|TP53_uc010cni.1_Missense_Mutation_p.Y163C|TP53_uc002gij.2_Missense_Mutation_p.Y163C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Y70C|TP53_uc002gio.2_Missense_Mutation_p.Y31C|TP53_uc010vug.1_Missense_Mutation_p.Y124C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 163 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> D (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.Y163C(95)|p.Y163N(17)|p.Y163H(17)|p.Y163*(7)|p.0?(7)|p.Y163S(4)|p.Y163Y(3)|p.Y163fs*1(2)|p.Y163D(2)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.I162_Y163delIY(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) TGACTGCTTGTAGATGGCCAT 0.622 Pancreas(47;798 1329 9957 10801) 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-Fraumensyndrome|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) 14 30 0 0 0.003163 0 0 RAI1 10743 broad.mit.edu 37 17 17701333 17701333 + Missense_Mutation SNP C C A TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr17:17701333C>A uc002grm.2 + 3 5540 c.5071C>A c.(5071-5073)CAA>AAA p.Q1691K RAI1_uc002grn.1_Missense_Mutation_p.Q1691K NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1691 cytoplasm|nucleus zinc ion binding central_nervous_system(1)|skin(1) 2 READ - Rectum adenocarcinoma(1115;0.0276) CTGCCTCTGCCAAAACCCGGC 0.597 NA 4 78 2.56e-06 2.89574e-06 0.009096 1 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254054 39254054 + Missense_Mutation SNP A A T rs76270529 by1000genomes TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr17:39254054A>T uc010wfo.1 - 1 322 c.283T>A c.(283-285)TGC>AGC p.C95S NM_031960 NP_114166 Q9BYQ9 KRA48_HUMAN keratin associated protein 4.8 95 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].|15. keratin filament 0 ctggagatgcagcagcTAGGG 0.318 NA 3 33 0 0 0.004672 0 0 UNK 85451 broad.mit.edu 37 17 73818612 73818612 + Missense_Mutation SNP C C G TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr17:73818612C>G uc002jpm.2 + 15 2120 c.2120C>G c.(2119-2121)TCC>TGC p.S707C NM_001080419 NP_001073888 Q9C0B0 UNK_HUMAN zinc finger CCCH-type domain containing 5 631 nucleic acid binding|zinc ion binding 0 all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) GGAAGCTTCTCCCCGGGCACT 0.617 NA 21 65 0 0 0.016522 0 0 PPAN-P2RY11 692312 broad.mit.edu 37 19 10218236 10218236 + Missense_Mutation SNP T T G TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr19:10218236T>G uc002mna.2 + 3 245 c.245T>G c.(244-246)GTC>GGC p.V82G PPAN-P2RY11_uc010xla.1_Missense_Mutation_p.V82G|PPAN_uc002mmz.1_Missense_Mutation_p.V82G|PPAN_uc002mnb.1_Missense_Mutation_p.V29G|SNORD105_uc010dwy.1_5'Flank|SNORD105B_uc010dwz.1_5'Flank NM_001040664 NP_001035754 Q9NQ55 SSF1_HUMAN PPAN-P2RY11 protein 82 Brix. RNA splicing nucleolus protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) CCCCTCGGGGTCACACACTTT 0.507 NA 3 36 0 0 0.00308 0 0 TYK2 7297 broad.mit.edu 37 19 10478970 10478970 + Splice_Site SNP C C A TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr19:10478970C>A uc002moc.3 - 4 695 c.317_splice c.e4+1 p.R106_splice TYK2_uc010dxe.2_Intron|TYK2_uc002mod.2_Splice_Site_p.R106_splice NM_003331 NP_003322 P29597 TYK2_HUMAN tyrosine kinase 2 intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity lung(5)|large_intestine(2)|ovary(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) TCTCCACCCACCTTATGCGGA 0.542 NA 40 47 1.8453e-21 2.15806e-21 0.010771 1 0 ABCG5 64240 broad.mit.edu 37 2 44047199 44047199 + Missense_Mutation SNP A A C rs79482684 TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr2:44047199A>C uc002rtn.2 - 11 1644 c.1504T>G c.(1504-1506)TTT>GTT p.F502V ABCG5_uc002rtm.2_Missense_Mutation_p.F107V|ABCG5_uc002rto.2_Missense_Mutation_p.F331V|ABCG5_uc002rtp.2_Missense_Mutation_p.F107V NM_022436 NP_071881 Q9H222 ABCG5_HUMAN ATP-binding cassette sub-family G member 5 502 Extracellular (Potential).|ABC transmembrane type-2. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity ovary(1)|skin(1) 2 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) GCAGCAGAAAAATATCCAAAT 0.423 NA 8 18 0 0 0.00308 0 0 FOXN2 3344 broad.mit.edu 37 2 48602224 48602224 + Missense_Mutation SNP G G A TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr2:48602224G>A uc002rwh.1 + 7 1253 c.938G>A c.(937-939)CGT>CAT p.R313H NM_002158 NP_002149 P32314 FOXN2_HUMAN T-cell leukemia virus enhancer factor 313 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036) GCAGCACAGCGTTGTGCATCC 0.458 NA 5 31 0 0 0.001168 0 0 TSGA10 80705 broad.mit.edu 37 2 99722034 99722034 + Nonsense_Mutation SNP G G A TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr2:99722034G>A uc002szg.3 - 6 965 c.337C>T c.(337-339)CGA>TGA p.R113* TSGA10_uc002szh.3_Nonsense_Mutation_p.R113*|TSGA10_uc002szi.3_Nonsense_Mutation_p.R113*|TSGA10_uc010fin.1_Nonsense_Mutation_p.R113*|TSGA10_uc010yvn.1_Nonsense_Mutation_p.R113* NM_182911 NP_878915 Q9BZW7 TSG10_HUMAN testis specific, 10 113 spermatogenesis cytoplasm|nuclear membrane ovary(1)|central_nervous_system(1) 2 GTCATTCTTCGTAAATCAGTA 0.398 NA 50 130 0 0 0.01441 0 0 CST5 1473 broad.mit.edu 37 20 23858221 23858221 + Missense_Mutation SNP T T G TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr20:23858221T>G uc002wtr.1 - 2 333 c.266A>C c.(265-267)AAG>ACG p.K89T NM_001900 NP_001891 P28325 CYTD_HUMAN cystatin D precursor 89 extracellular region cysteine-type endopeptidase inhibitor activity|protein binding 0 TCGACCGAACTTCACATTGAA 0.527 NA 8 40 0 0 0.006214 0 0 ZNF217 7764 broad.mit.edu 37 20 52198741 52198741 + Missense_Mutation SNP C C G TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr20:52198741C>G uc002xwq.3 - 1 896 c.625G>C c.(625-627)GAG>CAG p.E209Q ZNF217_uc010gij.1_Missense_Mutation_p.E201Q NM_006526 NP_006517 O75362 ZN217_HUMAN zinc finger protein 217 209 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1) 6 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) GAGATGCTCTCGGCCGCGTGC 0.502 NA 6 126 0 0 0.00308 0 0 GART 2618 broad.mit.edu 37 21 34897281 34897281 + Silent SNP G G A rs139633075 byFrequency TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr21:34897281G>A uc002yrx.2 - 11 1228 c.1093C>T c.(1093-1095)CTG>TTG p.L365L GART_uc002yrz.2_Silent_p.L365L|GART_uc010gmd.2_Silent_p.L27L|GART_uc002yry.2_Silent_p.L365L|GART_uc002ysa.2_Silent_p.L365L NM_000819 NP_000810 P22102 PUR2_HUMAN phosphoribosylglycinamide formyltransferase, 365 'de novo' IMP biosynthetic process|purine base biosynthetic process cytosol ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding ovary(1) 1 Pemetrexed(DB00642) AACACCTCCAGTCCTAGAGCT 0.443 NA 27 54 0 0 0.021523 0 0 TRPC1 7220 broad.mit.edu 37 3 142499837 142499837 + Missense_Mutation SNP G G A TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr3:142499837G>A uc003evc.2 + 6 1062 c.926G>A c.(925-927)CGT>CAT p.R309H TRPC1_uc003evb.2_Missense_Mutation_p.R275H NM_003304 NP_003295 P48995 TRPC1_HUMAN transient receptor potential cation channel, 309 Cytoplasmic (Potential). axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity ovary(2) 2 AATTTAAGTCGTCTAAAACTT 0.299 NA 16 44 0 0 0.007413 0 0 SHOX2 6474 broad.mit.edu 37 3 157817685 157817685 + Silent SNP A A G TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr3:157817685A>G uc003fbr.2 - 4 805 c.666T>C c.(664-666)TAT>TAC p.Y222Y SHOX2_uc003fbs.2_Silent_p.Y246Y|SHOX2_uc010hvw.2_Silent_p.Y222Y NM_006884 NP_006875 O60902 SHOX2_HUMAN short stature homeobox 2 isoform a 222 nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043) CTACGTTGACATAAGGTGCGA 0.408 NA 17 21 0 0 0.012319 0 0 SMC4 10051 broad.mit.edu 37 3 160135665 160135665 + Missense_Mutation SNP C C G TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr3:160135665C>G uc003fdh.2 + 11 1705 c.1592C>G c.(1591-1593)TCT>TGT p.S531C IFT80_uc003fda.2_Intron|SMC4_uc010hwc.1_Missense_Mutation_p.S295C|SMC4_uc003fdi.2_Missense_Mutation_p.S506C|SMC4_uc003fdj.2_Missense_Mutation_p.S531C|SMC4_uc010hwd.2_Missense_Mutation_p.S531C|SMC4_uc003fdl.2_Missense_Mutation_p.S234C NM_001002800 NP_001002800 Q9NTJ3 SMC4_HUMAN SMC4 structural maintenance of chromosomes 531 Potential. cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity ovary(1)|breast(1) 2 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) ATTGCAGCTTCTGAGACTCTC 0.388 NA 11 42 0 0 0.010729 0 0 SLITRK3 22865 broad.mit.edu 37 3 164907274 164907274 + Missense_Mutation SNP C C T TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr3:164907274C>T uc003fej.3 - 2 1789 c.1345G>A c.(1345-1347)GAT>AAT p.D449N SLITRK3_uc003fek.2_Missense_Mutation_p.D449N NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 449 LRR 8.|Extracellular (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 AAGGCCCCATCTTGGACATAG 0.423 NA HNSCC(40;0.11) 15 40 0 0 0.006122 0 0 C5orf20 140947 broad.mit.edu 37 5 134782134 134782134 + Missense_Mutation SNP A A C TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr5:134782134A>C uc003lav.2 - 1 905 c.665T>G c.(664-666)GTG>GGG p.V222G NM_130848 NP_570900 Q8TF63 DCNP1_HUMAN dendritic cell nuclear protein 1 222 Ser-rich. nucleus 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGAGGAACTCACCCGCCTGCT 0.577 NA 7 48 0 0 0.006214 0 0 HNRNPH1 3187 broad.mit.edu 37 5 179045155 179045155 + Missense_Mutation SNP A A T TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr5:179045155A>T uc003mkf.3 - 6 812 c.706T>A c.(706-708)TAT>AAT p.Y236N HNRNPH1_uc011dgn.1_5'Flank|HNRNPH1_uc003mkg.3_Missense_Mutation_p.Y144N|HNRNPH1_uc003mke.3_Missense_Mutation_p.Y236N|HNRNPH1_uc003mkh.3_Missense_Mutation_p.Y236N NM_005520 NP_005511 P31943 HNRH1_HUMAN heterogeneous nuclear ribonucleoprotein H1 236 2 X 16 AA Gly-rich approximate repeats.|1-1. regulation of RNA splicing actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|poly(U) RNA binding|protein binding 0 CCTCCACCATAAGCACCACGC 0.507 NA 27 136 0 0 0.007291 0 0 HLA-H 3136 broad.mit.edu 37 6 29855805 29855805 + Silent SNP C C G TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr6:29855805C>G uc010jro.2 + 2 94 c.42C>G c.(40-42)GTC>GTG p.V14V HLA-G_uc011dmb.1_Intron|HLA-H_uc003nod.2_RNA SubName: Full=cDNA FLJ52667, highly similar to HLA class I histocompatibility antigen, alpha chain H; 0 TCATCTCCGTCGGCTACGTGG 0.682 NA 4 23 0 0 0.009096 0 0 TNRC18 84629 broad.mit.edu 37 7 5427961 5427961 + Silent SNP G G A TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr7:5427961G>A uc003soi.3 - 5 1843 c.1494C>T c.(1492-1494)CCC>CCT p.P498P TNRC18_uc010ksx.1_Silent_p.P424P NM_001080495 NP_001073964 O15417 TNC18_HUMAN trinucleotide repeat containing 18 498 Pro-rich. DNA binding 0 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) GGGGGCGCCCGGGCTCCAGGC 0.736 NA 3 6 0 0 0.004672 0 0 PON3 5446 broad.mit.edu 37 7 94993257 94993257 + Missense_Mutation SNP G G A TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr7:94993257G>A uc003unt.2 - 6 638 c.613C>T c.(613-615)CTT>TTT p.L205F PON1_uc011kih.1_Intron|PON3_uc011kii.1_Missense_Mutation_p.L253F NM_000940 NP_000931 Q15166 PON3_HUMAN paraoxonase 3 205 aromatic compound catabolic process|carboxylic acid catabolic process|response to external stimulus extracellular space aryldialkylphosphatase activity|arylesterase activity|metal ion binding|protein homodimerization activity p.L205V(1) ovary(1) 1 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0151) CTGTAGAAAAGAACATAAGTC 0.443 NA 11 154 0 0 0.010729 0 0 DYNC1I1 1780 broad.mit.edu 37 7 95665044 95665044 + Silent SNP C C T TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr7:95665044C>T uc003uoc.3 + 13 1672 c.1395C>T c.(1393-1395)TAC>TAT p.Y465Y DYNC1I1_uc003uod.3_Silent_p.Y448Y|DYNC1I1_uc003uob.2_Silent_p.Y428Y|DYNC1I1_uc003uoe.3_Silent_p.Y445Y|DYNC1I1_uc010lfl.2_Silent_p.Y454Y NM_004411 NP_004402 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 465 WD 4. vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity ovary(3)|kidney(1) 4 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) GTACAGTCTACACGGCTTGTC 0.443 NA 50 106 0 0 0.01441 0 0 FBXO24 26261 broad.mit.edu 37 7 100190473 100190473 + Missense_Mutation SNP C C T TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr7:100190473C>T uc003uvm.1 + 5 919 c.626C>T c.(625-627)CCG>CTG p.P209L FBXO24_uc010lha.1_RNA|FBXO24_uc003uvl.1_Missense_Mutation_p.P195L|FBXO24_uc003uvn.1_5'UTR|uc011kjy.1_RNA|FBXO24_uc011kjz.1_Missense_Mutation_p.P247L|FBXO24_uc011kka.1_Missense_Mutation_p.P197L NM_033506 NP_277041 O75426 FBX24_HUMAN F-box only protein 24 isoform 1 209 ubiquitin ligase complex ubiquitin-protein ligase activity ovary(3)|skin(1) 4 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) ACTCGGGAGCCGCAGGAAGTG 0.567 NA 6 35 0 0 0.001984 0 0 CDH17 1015 broad.mit.edu 37 8 95182742 95182742 + Missense_Mutation SNP C C T TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr8:95182742C>T uc003ygh.2 - 9 1074 c.949G>A c.(949-951)GGA>AGA p.G317R CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Missense_Mutation_p.G317R NM_004063 NP_004054 Q12864 CAD17_HUMAN cadherin 17 precursor 317 Extracellular (Potential).|Cadherin 3. integral to membrane calcium ion binding ovary(5)|skin(1) 6 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) AGTGGTTTTCCGTACTCATCC 0.398 NA 8 126 0 0 0.006214 0 0 CSMD3 114788 broad.mit.edu 37 8 113563024 113563024 + Missense_Mutation SNP C C T TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr8:113563024C>T uc003ynu.2 - 27 4599 c.4440G>A c.(4438-4440)ATG>ATA p.M1480I CSMD3_uc003yns.2_Missense_Mutation_p.M752I|CSMD3_uc003ynt.2_Missense_Mutation_p.M1440I|CSMD3_uc011lhx.1_Missense_Mutation_p.M1376I NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1480 Extracellular (Potential).|CUB 8. 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 CCTTTAAAAGCATATCATTTT 0.388 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 7 69 0 0 0.001984 0 0 KDM4C 23081 broad.mit.edu 37 9 6986546 6986546 + Missense_Mutation SNP G G C TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr9:6986546G>C uc003zkh.2 + 11 2137 c.1557G>C c.(1555-1557)GAG>GAC p.E519D KDM4C_uc010mhu.2_Missense_Mutation_p.E541D|KDM4C_uc011lmi.1_Missense_Mutation_p.E519D|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Missense_Mutation_p.E519D|KDM4C_uc011lmk.1_Missense_Mutation_p.E338D|KDM4C_uc011lml.1_Missense_Mutation_p.E206D NM_015061 NP_055876 Q9H3R0 KDM4C_HUMAN jumonji domain containing 2C isoform 1 519 positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent nuclear chromatin androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 CAGTGGCAGAGAGTAATGGTG 0.512 NA 11 41 0 0 0.013537 0 0 ZNF484 83744 broad.mit.edu 37 9 95609798 95609798 + Missense_Mutation SNP T T A TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr9:95609798T>A uc004asu.1 - 5 1420 c.1271A>T c.(1270-1272)AAG>ATG p.K424M ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.K426M|ZNF484_uc010mrb.1_Missense_Mutation_p.K388M|ZNF484_uc004asv.1_Missense_Mutation_p.K388M NM_031486 NP_113674 Q5JVG2 ZN484_HUMAN zinc finger protein 484 isoform a 424 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AAAATGTGACTTCCGGATAAA 0.363 NA 24 45 0 0 0.01892 0 0 DMD 1756 broad.mit.edu 37 X 32382729 32382729 + Missense_Mutation SNP C C G TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chrX:32382729C>G uc004dda.1 - 36 5368 c.5124G>C c.(5122-5124)AAG>AAC p.K1708N DMD_uc004dcw.2_Missense_Mutation_p.K364N|DMD_uc004dcx.2_Missense_Mutation_p.K367N|DMD_uc004dcz.2_Missense_Mutation_p.K1585N|DMD_uc004dcy.1_Missense_Mutation_p.K1704N|DMD_uc004ddb.1_Missense_Mutation_p.K1700N|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1708 Spectrin 12.|Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GCTGGGGTTTCTTTTTCTCTG 0.368 NA 17 107 0 0 0.007413 0 0 RB1 5925 broad.mit.edu 37 13 48939032 48939033 + Frame_Shift_Ins INS - - A TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr13:48939032_48939033insA uc001vcb.2 + 9 1030_1031 c.864_865insA c.(862-867)GTGAAAfs p.V288fs RB1_uc010act.1_5'UTR NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 288_289 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(6) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TTTTTCAGGTGAAAAATGTTTA 0.198 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 4 4 --- --- --- --- NA NA NA NA NA MST1 4485 broad.mit.edu 37 3 49723322 49723327 + In_Frame_Del DEL GCGCTG GCGCTG - TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 GCGCTG GCGCTG - - GCGCTG GCGCTG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr3:49723322_49723327delGCGCTG uc003cxg.2 - 10 1288_1293 c.1216_1221delCAGCGC c.(1216-1221)CAGCGCdel p.QR406del MST1_uc011bcs.1_In_Frame_Del_p.444_446ASA>A NM_020998 NP_066278 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth 392_393 Kringle 4. proteolysis extracellular region serine-type endopeptidase activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CAGCGGACCAGCGCTGGCACTGGACA 0.704 GBM(110;181 1524 8005 22865 46297) NA 8 94 --- --- --- --- NA NA NA NA NA PLXNA1 5361 broad.mit.edu 37 3 126736667 126736668 + Frame_Shift_Ins INS - - C TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr3:126736667_126736668insC uc003ejg.2 + 18 3527_3528 c.3523_3524insC c.(3523-3525)ACCfs p.T1175fs NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 1198 Extracellular (Potential).|IPT/TIG 4. axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) CACACCCTGTACCCTCACCGTG 0.649 NA 25 73 --- --- --- --- NA NA NA NA NA SLC34A2 10568 broad.mit.edu 37 4 25678030 25678031 + Frame_Shift_Ins INS - - AA TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr4:25678030_25678031insAA uc003grr.2 + 13 1813_1814 c.1732_1733insAA c.(1732-1734)CGCfs p.R578fs SLC34A2_uc003grs.2_Frame_Shift_Ins_p.R577fs|SLC34A2_uc010iev.2_Frame_Shift_Ins_p.R577fs NM_006424 NP_006415 O95436 NPT2B_HUMAN solute carrier family 34 (sodium phosphate), 578 Cytoplasmic (Potential). cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity skin(3)|ovary(1)|kidney(1) 5 Breast(46;0.0503) CCTGCAGTCTCGCTGCCCACGC 0.629 NA 35 113 --- --- --- --- NA NA NA NA NA ARSI 340075 broad.mit.edu 37 5 149677343 149677343 + Frame_Shift_Del DEL C C - TCGA-75-5147-01A-01D-1625-08 TCGA-75-5147-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 52910a60-bb15-4ba5-9d09-50d8ee6a445b 84c16359-c463-43b1-bf74-0c47a4a57bdd g.chr5:149677343delC uc003lrv.2 - 2 1733 c.1144delG c.(1144-1146)GCCfs p.A382fs NM_001012301 NP_001012301 Q5FYB1 ARSI_HUMAN arylsulfatase family, member I precursor 382 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CGTGGTGAGGCCCGGCCCTCG 0.642 NA 26 136 --- --- --- --- NA NA NA NA NA