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_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut CCDC94 55702 broad.mit.edu 37 19 4267629 4267629 + Silent SNP G G A rs144896215 byFrequency TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr19:4267629G>A ENST00000262962.7 + 7 785 c.717G>A c.(715-717)aaG>aaA p.K239K NM_018074.4 NP_060544.2 Q9BW85 CCD94_HUMAN coiled-coil domain containing 94 239 NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2) 7 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183) AGGCCCCAAAGCCCAAGAGGA 0.687000 OREG0025164 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 37 0 0 0.024245 0 0 GLIS3 169792 broad.mit.edu 37 9 4117907 4117907 + Missense_Mutation SNP A A G TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr9:4117907A>G ENST00000324333.10 - 3 1299 c.1106T>C c.(1105-1107)gTc>gCc p.V369A GLIS3_ENST00000381971.3_Missense_Mutation_p.V524A NM_152629.3 NP_689842.3 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 369 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) GTCGATGTGGACCTTCTCGAT 0.612000 11 73 0 0 0.010729 0 0 CEP120 153241 broad.mit.edu 37 5 122729184 122729184 + Missense_Mutation SNP G G T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr5:122729184G>T ENST00000306467.5 - 6 924 c.620C>A c.(619-621)cCa>cAa p.P207Q CEP120_ENST00000306481.6_Missense_Mutation_p.P181Q|CEP120_ENST00000395431.2_Missense_Mutation_p.P207Q|CEP120_ENST00000328236.5_Missense_Mutation_p.P207Q Q8N960 CE120_HUMAN centrosomal protein 120kDa 207 centrosome breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 29 CATGGTACATGGAATTAACTA 0.303000 20 31 3.6726e-16 4.39024e-16 0.021523 1 0 GREM2 64388 broad.mit.edu 37 1 240656691 240656691 + Missense_Mutation SNP C C T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr1:240656691C>T ENST00000318160.4 - 2 351 c.85G>A c.(85-87)Gcc>Acc p.A29T NM_022469.3 NP_071914.3 Q9H772 GREM2_HUMAN gremlin 2, DAN family BMP antagonist 29 BMP signaling pathway extracellular space cytokine activity endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 10 all_cancers(173;0.0196) OV - Ovarian serous cystadenocarcinoma(106;0.0123) GAGGGGATGGCGCCCGCCGGC 0.622000 10 17 0 0 0.008291 0 0 LRFN5 145581 broad.mit.edu 37 14 42360816 42360816 + Silent SNP A A T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr14:42360816A>T ENST00000298119.4 + 4 2938 c.1749A>T c.(1747-1749)gtA>gtT p.V583V LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron NM_152447.3 NP_689660.2 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 583 integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) GCTGTAGTGTAACGCTGCCCC 0.453000 HNSCC(30;0.082) 22 48 0 0 0.010504 0 0 SCARB2 950 broad.mit.edu 37 4 77091132 77091132 + Missense_Mutation SNP G G T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr4:77091132G>T ENST00000264896.2 - 8 1350 c.1001C>A c.(1000-1002)cCc>cAc p.P334H SCARB2_ENST00000452464.2_Missense_Mutation_p.P191H NM_005506.3 NP_005497.1 Q14108 SCRB2_HUMAN scavenger receptor class B, member 2 334 cell adhesion|protein targeting to lysosome integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction enzyme binding|receptor activity p.P334H(1) breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1) 22 Lung(101;0.196) CATAATGATGGGTGCACCTGC 0.413000 5 107 4.096e-09 4.58047e-09 0.021553 1 0 PRR12 57479 broad.mit.edu 37 19 50099696 50099696 + Missense_Mutation SNP A A T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr19:50099696A>T ENST00000418929.2 + 4 2116 c.2104A>T c.(2104-2106)Agt>Tgt p.S702C NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 431 Pro-rich. DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) CCACCTGCAGAGTGTCATCCG 0.657000 14 20 0 0 0.016723 0 0 PCSK5 5125 broad.mit.edu 37 9 78911648 78911648 + Silent SNP C C A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr9:78911648C>A ENST00000545128.1 + 27 3928 c.3390C>A c.(3388-3390)tcC>tcA p.S1130S NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 837 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 AATGTGAGTCCTGCCACCGAG 0.552000 14 36 4.3838e-07 4.74912e-07 0.016723 1 0 BPIFB4 149954 broad.mit.edu 37 20 31671216 31671216 + Silent SNP C C A rs145261889 byFrequency TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr20:31671216C>A ENST00000375483.3 + 3 213 c.213C>A c.(211-213)ccC>ccA p.P71P NM_182519.2 NP_872325.2 P59827 LPLC4_HUMAN BPI fold containing family B, member 4 71 cytoplasm|extracellular region lipid binding TCCGAGGACCCCCCCCAGTAT 0.488000 39 113 7.05121e-23 8.62737e-23 0.039052 1 0 PCNX 22990 broad.mit.edu 37 14 71500712 71500712 + Missense_Mutation SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr14:71500712G>A ENST00000304743.2 + 18 4179 c.3733G>A c.(3733-3735)Gaa>Aaa p.E1245K PCNX_ENST00000439984.3_Missense_Mutation_p.E1134K|PCNX_ENST00000238570.5_Missense_Mutation_p.E1245K NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 1245 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) CCCTCTATCTGAAGTAAAAGA 0.308000 35 87 0 0 0.023175 0 0 UBE2Q1 55585 broad.mit.edu 37 1 154524644 154524644 + Silent SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr1:154524644G>A ENST00000292211.4 - 8 970 c.891C>T c.(889-891)agC>agT p.S297S NM_017582.6 NP_060052.3 Q7Z7E8 UB2Q1_HUMAN ubiquitin-conjugating enzyme E2Q family member 1 297 ATP binding|protein binding|ubiquitin-protein ligase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 16 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) TGTGCAAAGCGCTGTCCTGGT 0.493000 18 98 0 0 0.043863 0 0 UBR5 51366 broad.mit.edu 37 8 103354705 103354705 + Missense_Mutation SNP T T C TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr8:103354705T>C ENST00000520539.1 - 9 1700 c.1094A>G c.(1093-1095)gAt>gGt p.D365G UBR5_ENST00000521922.1_Missense_Mutation_p.D359G|UBR5_ENST00000220959.4_Missense_Mutation_p.D365G NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 365 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) AAATACCTTATCAGGCCACCA 0.408000 81 88 0 0 0.014410 0 0 GLRA3 8001 broad.mit.edu 37 4 175598318 175598318 + Missense_Mutation SNP C C T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr4:175598318C>T ENST00000274093.3 - 7 1340 c.838G>A c.(838-840)Gat>Aat p.D280N GLRA3_ENST00000340217.5_Missense_Mutation_p.D280N NM_006529.2 NP_006520.2 O75311 GLRA3_HUMAN glycine receptor, alpha 3 280 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) GGTGCTGCATCCATGTTGATC 0.473000 20 38 0 0 0.010504 0 0 FNDC7 163479 broad.mit.edu 37 1 109270438 109270438 + Missense_Mutation SNP T T C TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr1:109270438T>C ENST00000370017.3 + 7 1397 c.1120T>C c.(1120-1122)Tgt>Cgt p.C374R FNDC7_ENST00000271311.2_Missense_Mutation_p.C375R NM_001144937.1 NP_001138409.1 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 375 extracellular region breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1) 20 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) AGCTCCCTGTTGTCCTAGTGA 0.547000 44 131 0 0 0.014410 0 0 TICRR 90381 broad.mit.edu 37 15 90168261 90168261 + Nonsense_Mutation SNP C C T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr15:90168261C>T ENST00000268138.7 + 20 4825 c.4720C>T c.(4720-4722)Cga>Tga p.R1574* KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Nonsense_Mutation_p.R1573* TOPBP1-interacting checkpoint and replication regulator TCCCAAACTTCGAATTAAGAA 0.537000 32 98 0 0 0.019004 0 0 DHX30 22907 broad.mit.edu 37 3 47889378 47889378 + Missense_Mutation SNP A A G TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr3:47889378A>G ENST00000446256.2 + 15 2673 c.2101A>G c.(2101-2103)Atc>Gtc p.I701V DHX30_ENST00000457607.1_Missense_Mutation_p.I768V|DHX30_ENST00000348968.4_Missense_Mutation_p.I712V|DHX30_ENST00000445061.1_Missense_Mutation_p.I740V NM_014966.3 NP_055781.2 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 30 740 Helicase C-terminal. mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 37 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) TTCCATCACAATCAATGACAT 0.547000 23 39 0 0 0.014323 0 0 GBP3 2635 broad.mit.edu 37 1 89481070 89481070 + Missense_Mutation SNP G G C TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr1:89481070G>C ENST00000370481.4 - 3 438 c.218C>G c.(217-219)tCt>tGt p.S73C GBP3_ENST00000475853.2_5'UTR NM_018284.2 NP_060754.2 Q9H0R5 GBP3_HUMAN guanylate binding protein 3 73 integral to membrane GTP binding|GTPase activity breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(277;0.123) all cancers(265;0.0103)|Epithelial(280;0.0293) TTTGGTGTGAGATTTCACTGT 0.483000 33 98 0 0 0.017118 0 0 SFI1 9814 broad.mit.edu 37 22 32009447 32009447 + Silent SNP G G T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr22:32009447G>T ENST00000432498.1 + 25 2973 c.2580G>T c.(2578-2580)acG>acT p.T860T SFI1_ENST00000443011.1_Silent_p.T738T|SFI1_ENST00000400288.2_Silent_p.T891T|SFI1_ENST00000540643.1_Silent_p.T836T|SFI1_ENST00000414585.1_Silent_p.T738T|SFI1_ENST00000400289.1_Silent_p.T809T|SFI1_ENST00000443326.1_Silent_p.T809T NM_014775.3 NP_055590.2 A8K8P3 SFI1_HUMAN Sfi1 homolog, spindle assembly associated (yeast) 891 G2/M transition of mitotic cell cycle centriole|cytosol NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3) 38 AGGGTGCCACGCGGCTCCTGC 0.682000 7 23 2.0095e-06 2.15451e-06 0.029380 1 0 AVPR1A 552 broad.mit.edu 37 12 63544069 63544069 + Missense_Mutation SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr12:63544069G>A ENST00000299178.2 - 1 653 c.548C>T c.(547-549)aCg>aTg p.T183M NM_000706.4 NP_000697.1 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 183 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1) 26 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) GTACTGCGGCGTGCTCAGCAC 0.642000 29 50 0 0 0.037714 0 0 PLXNA4 91584 broad.mit.edu 37 7 132070014 132070014 + Missense_Mutation SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr7:132070014G>A ENST00000423507.2 - 4 1546 c.1412C>T c.(1411-1413)aCg>aTg p.T471M PLXNA4_ENST00000359827.3_Intron|PLXNA4_ENST00000321063.4_Intron NM_001105543.1 NP_001099013.1 Q9HCM2 PLXA4_HUMAN plexin A4 1019 Sema. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 TCGGGGTCCCGTCTGTAGCTC 0.493000 3 36 0 0 0.004672 0 0 ERCC1 2067 broad.mit.edu 37 19 45916913 45916913 + Missense_Mutation SNP G G T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr19:45916913G>T ENST00000013807.5 - 8 1056 c.865C>A c.(865-867)Cca>Aca p.P289T ERCC1_ENST00000340192.7_Intron|ERCC1_ENST00000591636.1_Intron|ERCC1_ENST00000588738.1_Intron|ERCC1_ENST00000300853.3_Intron|ERCC1_ENST00000423698.2_Intron|ERCC1_ENST00000589165.1_Intron NM_202001.2 NP_973730.1 P07992 ERCC1_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) 0 mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1) 15 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0247) CAACTCCTTGGGTTCTTTCCC 0.512000 Nucleotide excision repair (NER) 44 124 5.34276e-22 6.46101e-22 0.014410 1 0 ST18 9705 broad.mit.edu 37 8 53044649 53044649 + Missense_Mutation SNP C C G TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr8:53044649C>G ENST00000276480.7 - 22 3218 c.2535G>C c.(2533-2535)aaG>aaC p.K845N NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 845 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) CCTTCTGTCTCTTGGCAGCCA 0.522000 14 60 0 0 0.016723 0 0 CASZ1 54897 broad.mit.edu 37 1 10720212 10720212 + Missense_Mutation SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr1:10720212G>A ENST00000377022.3 - 6 1204 c.887C>T c.(886-888)tCg>tTg p.S296L CASZ1_ENST00000344008.5_Missense_Mutation_p.S296L NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 296 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) ACTGCTGTGCGACGGCAGGGG 0.657000 85 68 0 0 0.014410 0 0 PXDNL 137902 broad.mit.edu 37 8 52336282 52336282 + Missense_Mutation SNP G G T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr8:52336282G>T ENST00000356297.4 - 14 1748 c.1648C>A c.(1648-1650)Cag>Aag p.Q550K PXDNL_ENST00000543296.1_Missense_Mutation_p.Q550K NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 550 Ig-like C2-type 4. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TCAGTAATCTGCACACCTTCC 0.418000 12 43 7.03913e-09 7.70599e-09 0.013537 1 0 RBBP6 5930 broad.mit.edu 37 16 24551988 24551988 + Missense_Mutation SNP A A G TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr16:24551988A>G ENST00000319715.4 + 1 473 c.41A>G c.(40-42)tAt>tGt p.Y14C RBBP6_ENST00000381039.3_Missense_Mutation_p.Y14C|RBBP6_ENST00000452655.2_Missense_Mutation_p.Y14C|RBBP6_ENST00000348022.2_Missense_Mutation_p.Y14C NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 14 DWNN. protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) AAACTCAACTATGATACCGTC 0.473000 20 72 0 0 0.012319 0 0 ZPLD1 131368 broad.mit.edu 37 3 102171893 102171893 + Nonsense_Mutation SNP C C A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr3:102171893C>A ENST00000306176.1 + 3 385 c.285C>A c.(283-285)tgC>tgA p.C95* ZPLD1_ENST00000466937.1_Nonsense_Mutation_p.C79*|ZPLD1_ENST00000491959.1_Nonsense_Mutation_p.C79* NM_175056.1 NP_778226.1 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 79 ZP. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 ACTCCCACTGCAGAGGGTTCA 0.453000 74 36 4.09166e-32 5.06586e-32 0.014410 1 0 ZNRF4 148066 broad.mit.edu 37 19 5455922 5455922 + Silent SNP C C T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr19:5455922C>T ENST00000222033.4 + 1 497 c.420C>T c.(418-420)aaC>aaT p.N140N NM_181710.3 NP_859061.3 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 140 PA. integral to membrane zinc ion binding NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) AGCCAGCCAACGCGTGCCATC 0.672000 22 67 0 0 0.027356 0 0 BEND6 221336 broad.mit.edu 37 6 56857219 56857219 + Missense_Mutation SNP C C T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr6:56857219C>T ENST00000370748.3 + 3 599 c.164C>T c.(163-165)tCc>tTc p.S55F BEND6_ENST00000370750.2_Missense_Mutation_p.S55F|BEND6_ENST00000370745.1_Missense_Mutation_p.S55F|BEND6_ENST00000370746.3_Missense_Mutation_p.S55F Q5SZJ8 BEND6_HUMAN BEN domain containing 6 55 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 17 GGTGAAAGCTCCAGTGAGGAT 0.403000 55 209 0 0 0.014410 0 0 WDR5B 54554 broad.mit.edu 37 3 122133906 122133906 + Missense_Mutation SNP C C T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr3:122133906C>T ENST00000330689.4 - 1 976 c.470G>A c.(469-471)gGa>gAa p.G157E NM_019069.3 NP_061942.2 Q86VZ2 WDR5B_HUMAN WD repeat domain 5B 157 kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 13 GBM - Glioblastoma multiforme(114;0.0704) GAGACACTTTCCTGTTTTCAC 0.403000 22 81 0 0 0.010504 0 0 ZNF543 125919 broad.mit.edu 37 19 57839395 57839395 + Missense_Mutation SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr19:57839395G>A ENST00000321545.4 + 4 910 c.565G>A c.(565-567)Gat>Aat p.D189N NM_213598.3 NP_998763.2 Q08ER8 ZN543_HUMAN zinc finger protein 543 189 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 28 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) ACCAGTTACAGATGCCTTGAT 0.403000 29 81 0 0 0.045705 0 0 CCDC40 55036 broad.mit.edu 37 17 78063685 78063685 + Splice_Site SNP T T G TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr17:78063685T>G ENST00000397545.4 + 17 2859 c.e17+2 CCDC40_ENST00000374877.3_Splice_Site|CCDC40_ENST00000573903.1_Splice_Site NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) AGGATGAAGGTGAGGGGAGGA 0.627000 10 32 0 0 0.006214 0 0 AHSG 197 broad.mit.edu 37 3 186338468 186338468 + Missense_Mutation SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr3:186338468G>A ENST00000411641.2 + 7 1072 c.853G>A c.(853-855)Gca>Aca p.A285T AHSG_ENST00000273784.5_Missense_Mutation_p.A286T P02765 FETUA_HUMAN alpha-2-HS-glycoprotein 285 acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development extracellular space cysteine-type endopeptidase inhibitor activity|protein binding p.A285T(2) central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1) 22 all_cancers(143;3.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.27e-20) GBM - Glioblastoma multiforme(93;0.0463) TCCACTTGGCGCACCTGGACT 0.642000 126 83 0 0 0.014410 0 0 YTHDC2 64848 broad.mit.edu 37 5 112868639 112868639 + Nonsense_Mutation SNP C C T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr5:112868639C>T ENST00000161863.4 + 5 952 c.739C>T c.(739-741)Caa>Taa p.Q247* YTHDC2_ENST00000515883.1_Nonsense_Mutation_p.Q247* NM_022828.3 NP_073739.3 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 247 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) ATTTTGTACTCAACCAAGACG 0.398000 4 74 0 0 0.014758 0 0 BRE 9577 broad.mit.edu 37 2 28210901 28210901 + Missense_Mutation SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr2:28210901G>A ENST00000344773.2 + 4 385 c.247G>A c.(247-249)Gat>Aat p.D83N BRE_ENST00000603461.1_3'UTR|BRE_ENST00000379624.1_Missense_Mutation_p.D83N|BRE_ENST00000379632.2_Missense_Mutation_p.D83N|BRE_ENST00000361704.2_Missense_Mutation_p.D83N|BRE_ENST00000342045.2_Missense_Mutation_p.D83N NM_004899.4 NP_004890.2 Q9NXR7 BRE_HUMAN brain and reproductive organ-expressed (TNFRSF1A modulator) 83 UEV-like 1. apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2) 23 Acute lymphoblastic leukemia(172;0.155) ACTGCCTCCCGATTTTATCTT 0.398000 94 326 0 0 0.014410 0 0 ABCC8 6833 broad.mit.edu 37 11 17428479 17428479 + Missense_Mutation SNP C C T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr11:17428479C>T ENST00000302539.4 - 25 3246 c.3121G>A c.(3121-3123)Gcc>Acc p.A1041T ABCC8_ENST00000389817.3_Missense_Mutation_p.A1040T NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 1040 ABC transmembrane type-1 2. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) AGGGTCAGGGCGCTGTCGGTC 0.652000 6 87 0 0 0.021553 0 0 FNDC1 84624 broad.mit.edu 37 6 159653481 159653481 + Missense_Mutation SNP A A G TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr6:159653481A>G ENST00000297267.9 + 11 2137 c.1937A>G c.(1936-1938)gAc>gGc p.D646G FNDC1_ENST00000340366.6_Missense_Mutation_p.D583G NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 646 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GACTTGGTGGACTCAGACGAA 0.697000 9 50 0 0 0.006214 0 0 CPA5 93979 broad.mit.edu 37 7 130002807 130002807 + Missense_Mutation SNP C C T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr7:130002807C>T ENST00000485477.1 + 8 1848 c.719C>T c.(718-720)cCt>cTt p.P240L CPA5_ENST00000466363.2_Missense_Mutation_p.P240L|CPA5_ENST00000461828.1_Missense_Mutation_p.P240L|CPA5_ENST00000431780.2_Missense_Mutation_p.P240L|CPA5_ENST00000355388.3_Missense_Mutation_p.P240L|CPA5_ENST00000474905.1_Missense_Mutation_p.P240L|CPA5_ENST00000393213.3_Missense_Mutation_p.P240L Q8WXQ8 CBPA5_HUMAN carboxypeptidase A5 240 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2) 23 Melanoma(18;0.0435) GTCACAAACCCTGATGGGTTT 0.502000 3 41 0 0 0.009096 0 0 RAB1A 5861 broad.mit.edu 37 2 65318142 65318142 + Missense_Mutation SNP A A G TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr2:65318142A>G ENST00000409784.3 - 4 453 c.263T>C c.(262-264)aTa>aCa p.I88T RAB1A_ENST00000398529.3_Intron|RAB1A_ENST00000494188.1_Intron|RAB1A_ENST00000260638.8_Intron|RAB1A_ENST00000409892.1_Intron|RAB1A_ENST00000356214.7_Intron|RAB1A_ENST00000409751.1_Missense_Mutation_p.I56T NM_004161.4 NP_004152.1 P62820 RAB1A_HUMAN RAB1A, member RAS oncogene family 88 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport endoplasmic reticulum|Golgi apparatus GTP binding|GTPase activity endometrium(1)|kidney(1)|lung(3)|prostate(1) 6 ATACACAACTATGATGCCATG 0.398000 4 26 0 0 0.021553 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88886149 88886149 + Missense_Mutation SNP C C A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr8:88886149C>A ENST00000319675.3 - 1 147 c.51G>T c.(49-51)aaG>aaT p.K17N NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 17 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 CTCTGACTGTCTTTTTCTGCT 0.537000 18 52 3.5997e-14 4.20639e-14 0.014323 1 0 PRDM2 7799 broad.mit.edu 37 1 14075948 14075948 + Silent SNP C C A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr1:14075948C>A ENST00000235372.7 + 6 1333 c.477C>A c.(475-477)gcC>gcA p.A159A PRDM2_ENST00000505823.1_5'UTR|PRDM2_ENST00000503842.1_5'UTR|PRDM2_ENST00000343137.4_5'UTR|PRDM2_ENST00000311066.5_Silent_p.A159A|PRDM2_ENST00000502727.1_3'UTR|PRDM2_ENST00000376048.5_Silent_p.A159A|PRDM2_ENST00000413440.1_5'UTR NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 159 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) GAGCCAGCGCCCGGAGCAAGC 0.731000 8 13 2.17888e-05 2.26603e-05 0.006214 1 0 PLIN2 123 broad.mit.edu 37 9 19126190 19126190 + Missense_Mutation SNP C C A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr9:19126190C>A ENST00000276914.2 - 3 327 c.148G>T c.(148-150)Gca>Tca p.A50S PLIN2_ENST00000411567.1_Missense_Mutation_p.A50S|PLIN2_ENST00000380464.3_Missense_Mutation_p.A50S|PLIN2_ENST00000380465.3_Missense_Mutation_p.A50S NM_001122.3 NP_001113.2 Q99541 PLIN2_HUMAN perilipin 2 50 cellular lipid metabolic process endoplasmic reticulum|extracellular region|lipid particle breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 19 CCGTTCTCTGCCATCTCACAC 0.517000 39 82 1.59361e-14 1.88336e-14 0.027894 1 0 PIP5K1C 23396 broad.mit.edu 37 19 3648623 3648623 + Splice_Site SNP C C A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr19:3648623C>A ENST00000335312.3 - 9 1299 c.1211_splice c.e9+1 p.R404_splice PIP5K1C_ENST00000589578.1_Splice_Site_p.R404_splice|PIP5K1C_ENST00000539785.1_Splice_Site_p.R404_splice|PIP5K1C_ENST00000537021.1_Splice_Site_p.R404_splice NM_001195733.1|NM_012398.2 NP_001182662.1|NP_036530.1 O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, gamma 404 PIPK. axon guidance cytosol|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding large_intestine(3)|ovary(1)|skin(3)|stomach(2) 9 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) GGGCACCCACCTGTAGGACTG 0.706000 15 57 5.3912e-06 5.72128e-06 0.038395 1 0 LAMB4 22798 broad.mit.edu 37 7 107732207 107732207 + Missense_Mutation SNP T T C TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr7:107732207T>C ENST00000388781.3 - 14 1648 c.1565A>G c.(1564-1566)aAt>aGt p.N522S LAMB4_ENST00000414450.2_Missense_Mutation_p.N522S|LAMB4_ENST00000388780.3_Missense_Mutation_p.N522S|LAMB4_ENST00000205386.4_Missense_Mutation_p.N522S NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 522 Laminin EGF-like 5; truncated. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 ACACTGCCCATTCTTGGGTGA 0.502000 18 69 0 0 0.043863 0 0 OR8D2 283160 broad.mit.edu 37 11 124189328 124189328 + Missense_Mutation SNP T T A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr11:124189328T>A ENST00000357438.2 - 1 856 c.766A>T c.(766-768)Aca>Tca p.T256S NM_001002918.1 NP_001002918.1 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, member 2 256 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) TACATGAATGTTATAGACCCA 0.438000 37 81 0 0 0.021022 0 0 ROBO1 6091 broad.mit.edu 37 3 78987994 78987994 + Missense_Mutation SNP T T G TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr3:78987994T>G ENST00000436010.2 - 2 1136 c.139A>C c.(139-141)Act>Cct p.T47P ROBO1_ENST00000495273.1_Missense_Mutation_p.T47P|ROBO1_ENST00000464233.1_Missense_Mutation_p.T86P|ROBO1_ENST00000467549.1_Missense_Mutation_p.T47P Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 86 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) CAGTTCAAAGTTGCAGGTTCT 0.507000 21 55 0 0 0.014323 0 0 ADH6 130 broad.mit.edu 37 4 100131636 100131636 + Silent SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr4:100131636G>A ENST00000394897.1 - 4 368 c.286C>T c.(286-288)Ctg>Ttg p.L96L RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_5'UTR|ADH6_ENST00000394899.2_Silent_p.L96L|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000237653.7_Silent_p.L96L|RP11-696N14.1_ENST00000506160.1_RNA P28332 ADH6_HUMAN alcohol dehydrogenase 6 (class V) 96 ethanol oxidation|response to ethanol|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2) 20 OV - Ovarian serous cystadenocarcinoma(123;3.58e-08) Abacavir(DB01048)|NADH(DB00157) CACTGTGGCAGAAAGAGTGTG 0.303000 28 80 0 0 0.012213 0 0 CUL9 23113 broad.mit.edu 37 6 43189000 43189000 + Silent SNP C C T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr6:43189000C>T ENST00000252050.4 + 34 6777 c.6693C>T c.(6691-6693)ctC>ctT p.L2231L CUL9_ENST00000354495.3_Silent_p.L2121L|CUL9_ENST00000372647.2_Silent_p.L2203L|RP3-330M21.5_ENST00000500590.1_RNA NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 2231 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 TGGCCAAGCTCATCTCCAAGC 0.612000 12 39 0 0 0.013537 0 0 KDM2B 84678 broad.mit.edu 37 12 122018774 122018774 + Missense_Mutation SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr12:122018774G>A ENST00000377071.4 - 1 115 c.43C>T c.(43-45)Cca>Tca p.P15S KDM2B_ENST00000536437.1_5'UTR|KDM2B_ENST00000538046.2_Missense_Mutation_p.P15S|RP13-941N14.1_ENST00000541574.1_lincRNA NM_032590.4 NP_115979.3 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 15 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 CTTTTTCGTGGGGGGTGATCC 0.483000 32 135 0 0 0.045705 0 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 6 63 0 0 0.021553 0 0 PI4KAP1 728233 broad.mit.edu 37 22 20386794 20386794 + RNA SNP A A C TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr22:20386794A>C ENST00000430523.3 - 0 1718 NR_003563.1 CCACCCCCAAAAGGCAGGTTG 0.597000 5 15 0 0 0.014758 0 0 SLC52A2 79581 broad.mit.edu 37 8 145583549 145583549 + Silent SNP C C T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr8:145583549C>T ENST00000532887.1 + 3 980 c.397C>T c.(397-399)Ctg>Ttg p.L133L SLC52A2_ENST00000329994.2_Silent_p.L133L|SLC52A2_ENST00000402965.1_Silent_p.L133L|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000530047.1_Silent_p.L133L|SLC52A2_ENST00000527078.1_Silent_p.L133L|SLC52A2_ENST00000540505.1_Silent_p.L45L|SLC52A2_ENST00000526891.1_3'UTR Q9HAB3 RFT3_HUMAN solute carrier family 52 (riboflavin transporter), member 2 133 integral to plasma membrane receptor activity|riboflavin transporter activity TGTCACTTTCCTGCCCTTCTT 0.602000 65 281 0 0 0.014410 0 0 REG3A 5068 broad.mit.edu 37 2 79385538 79385538 + Missense_Mutation SNP C C G TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr2:79385538C>G ENST00000393878.1 - 3 501 c.247G>C c.(247-249)Gct>Cct p.A83P AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Missense_Mutation_p.A83P|REG3A_ENST00000409839.3_Missense_Mutation_p.A83P NM_138938.2 NP_620355.1 Q06141 REG3A_HUMAN regenerating islet-derived 3 alpha 83 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1) 50 GATCCCTCAGCCCCACTGAGC 0.572000 12 67 0 0 0.013537 0 0 SOX3 6658 broad.mit.edu 37 X 139586674 139586674 + Silent SNP C C T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chrX:139586674C>T ENST00000370536.2 - 1 551 c.552G>A c.(550-552)gaG>gaA p.E184E NM_005634.2 NP_005625.2 P41225 SOX3_HUMAN SRY (sex determining region Y)-box 3 184 face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent nucleus DNA binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1) 10 Acute lymphoblastic leukemia(192;7.65e-05) ATGGTCGCTTCTCGGCGTCGG 0.612000 4 50 0 0 0.009096 0 0 PTEN 5728 broad.mit.edu 37 10 89692794 89692794 + Missense_Mutation SNP A A G rs121909238 TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr10:89692794A>G ENST00000371953.3 + 5 1635 c.278A>G c.(277-279)cAt>cGt p.H93R NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 93 Phosphatase tensin-type. H -> R (in MCEPHAS).|H -> Y (in CD). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(5)|p.R55fs*1(5)|p.H93R(3)|p.Y27fs*1(2)|p.Q87_P96del(1)|p.N82_P95del(1)|p.F56fs*2(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TTTGAAGACCATAACCCACCA 0.338000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 21 63 0 0 0.018920 0 0 DIP2A 23181 broad.mit.edu 37 21 47977603 47977603 + Missense_Mutation SNP C C G TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr21:47977603C>G ENST00000318711.7 + 31 3921 c.3738C>G c.(3736-3738)ttC>ttG p.F1246L DIP2A_ENST00000417564.2_Missense_Mutation_p.F1245L|DIP2A_ENST00000400274.1_Missense_Mutation_p.F1241L NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 1245 multicellular organismal development nucleus catalytic activity|transcription factor binding cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) GCGTCACCTTCTGCTCCTACT 0.637000 8 18 0 0 0.006214 0 0 TTC17 55761 broad.mit.edu 37 11 43418289 43418289 + Missense_Mutation SNP G G T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr11:43418289G>T ENST00000039989.4 + 6 708 c.694G>T c.(694-696)Gct>Tct p.A232S TTC17_ENST00000299240.6_Missense_Mutation_p.A232S|TTC17_ENST00000526774.1_3'UTR NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 232 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 GTATAACATGGCTTCATTTTA 0.388000 15 66 0.000308642 0.000314694 0.024245 1 0 ANGPT4 51378 broad.mit.edu 37 20 896725 896725 + Missense_Mutation SNP A A C TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr20:896725A>C ENST00000381922.3 - 1 235 c.133T>G c.(133-135)Tac>Gac p.Y45D ANGPT4_ENST00000546022.1_Missense_Mutation_p.Y45D NM_015985.2 NP_057069.1 Q9Y264 ANGP4_HUMAN angiopoietin 4 45 anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 27 AAGAAGGTGTAGCTACAGTGG 0.607000 19 65 0 0 0.038395 0 0 CSRNP3 80034 broad.mit.edu 37 2 166533063 166533063 + Missense_Mutation SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr2:166533063G>A ENST00000314499.7 + 6 1026 c.650G>A c.(649-651)cGa>cAa p.R217Q CSRNP3_ENST00000342316.4_Missense_Mutation_p.R217Q|CSRNP3_ENST00000409420.1_Missense_Mutation_p.R249Q NM_001172173.1 NP_001165644.1 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 217 Cys-rich. apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2) 33 TGTGACTGCCGAGTGTTCTGT 0.542000 21 50 0 0 0.010504 0 0 MROH2B 133558 broad.mit.edu 37 5 41008749 41008749 + Silent SNP C C T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr5:41008749C>T ENST00000399564.4 - 33 4017 c.3567G>A c.(3565-3567)gtG>gtA p.V1189V MROH2B_ENST00000506092.2_Silent_p.V744V NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B CCTGCTGCATCACATGCCGCC 0.567000 34 51 0 0 0.015359 0 0 KGFLP2 654466 broad.mit.edu 37 9 41962521 41962521 + RNA SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr9:41962521G>A ENST00000454645.1 - 0 983 NR_003670.1 AAATCTCCCTGCTGGAACTGG 0.328000 3 10 0 0 0.004672 0 0 PRPS1L1 221823 broad.mit.edu 37 7 18067095 18067095 + Missense_Mutation SNP C C A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr7:18067095C>A ENST00000506618.2 - 1 391 c.311G>T c.(310-312)cGg>cTg p.R104L NM_175886.2 NP_787082.1 P21108 PRPS3_HUMAN phosphoribosyl pyrophosphate synthetase 1-like 1 104 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3) 18 Lung NSC(10;0.0385)|all_lung(11;0.0736) GATTGGGGACCGGCTCTTATC 0.468000 36 110 6.90743e-12 7.98191e-12 0.017118 1 0 OR52B2 255725 broad.mit.edu 37 11 6191145 6191145 + Silent SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr11:6191145G>A ENST00000530810.1 - 1 493 c.412C>T c.(412-414)Cta>Tta p.L138L RP11-290F24.3_ENST00000529961.1_RNA NM_001004052.1 NP_001004052.1 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, member 2 138 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGCCATGTTAGCACTGTTGTA 0.512000 9 49 0 0 0.006214 0 0 COL4A4 1286 broad.mit.edu 37 2 227912248 227912248 + Missense_Mutation SNP C C T rs77277077 by1000genomes TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr2:227912248C>T ENST00000396625.3 - 35 3439 c.3232G>A c.(3232-3234)Gcc>Acc p.A1078T COL4A4_ENST00000329662.7_Missense_Mutation_p.A1078T NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1078 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) AAGTGACTGGCAGGGTCACCT 0.398000 12 21 0 0 0.013537 0 0 WHSC1 7468 broad.mit.edu 37 4 1902895 1902895 + Missense_Mutation SNP A A T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr4:1902895A>T ENST00000503128.1 + 2 721 c.514A>T c.(514-516)Agc>Tgc p.S172C WHSC1_ENST00000436793.1_Missense_Mutation_p.S172C|WHSC1_ENST00000420906.2_Missense_Mutation_p.S172C|WHSC1_ENST00000508803.1_Missense_Mutation_p.S172C|WHSC1_ENST00000514045.1_Missense_Mutation_p.S172C|WHSC1_ENST00000382891.5_Missense_Mutation_p.S172C|WHSC1_ENST00000382892.2_Missense_Mutation_p.S172C|WHSC1_ENST00000398261.1_Missense_Mutation_p.S172C|WHSC1_ENST00000382895.3_Missense_Mutation_p.S172C O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 172 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 48 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) CAGGAAGAGGAGCATAAAATA 0.438000 T IGH@ MM 12 22 0 0 0.010729 0 0 RAPGEF2 9693 broad.mit.edu 37 4 160266481 160266481 + Splice_Site SNP T T G TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr4:160266481T>G ENST00000264431.4 + 18 3438 c.3019_splice c.e18+1 p.L1007_splice NM_014247.2 NP_055062.1 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor (GEF) 2 1007 cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 70 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) AACCAACACATGTGAGTTTTT 0.463000 11 56 0 0 0.010729 0 0 DUSP22 56940 broad.mit.edu 37 6 348127 348127 + Silent SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr6:348127G>A ENST00000419235.2 + 6 366 c.288G>A c.(286-288)gtG>gtA p.V96V DUSP22_ENST00000605863.1_5'UTR|DUSP22_ENST00000605315.1_5'UTR|DUSP22_ENST00000604971.1_5'UTR|DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000344450.5_Silent_p.V96V|DUSP22_ENST00000605035.1_5'UTR Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 96 Tyrosine-protein phosphatase. apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2) 26 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) CCAGGAGCGTGACACTGGTGA 0.612000 50 280 0 0 0.014410 0 0 LRBA 987 broad.mit.edu 37 4 151773953 151773953 + Missense_Mutation SNP C C A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr4:151773953C>A ENST00000535741.1 - 23 3382 c.2909G>T c.(2908-2910)gGa>gTa p.G970V LRBA_ENST00000510413.1_Missense_Mutation_p.G970V|LRBA_ENST00000507224.1_Missense_Mutation_p.G970V|LRBA_ENST00000357115.3_Missense_Mutation_p.G970V P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 970 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) TTGCTGGGATCCTACTGAAAC 0.403000 12 41 7.03913e-09 7.70599e-09 0.013537 1 0 SLC5A12 159963 broad.mit.edu 37 11 26734241 26734241 + Nonsense_Mutation SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr11:26734241G>A ENST00000396005.3 - 2 661 c.352C>T c.(352-354)Cga>Tga p.R118* SLC5A12_ENST00000280467.6_Nonsense_Mutation_p.R118* NM_178498.3 NP_848593.2 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12 118 sodium ion transport apical plasma membrane|integral to membrane symporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1) 35 TTGTTGAATCGTAGTTGTAAG 0.418000 60 189 0 0 0.014410 0 0 KIAA1755 85449 broad.mit.edu 37 20 36841569 36841569 + Missense_Mutation SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr20:36841569G>A ENST00000279024.4 - 14 3749 c.3478C>T c.(3478-3480)Cgg>Tgg p.R1160W NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 1160 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) GGCTGCTGCCGGAAGAAGGTG 0.647000 17 74 0 0 0.014323 0 0 ZNF638 27332 broad.mit.edu 37 2 71633384 71633384 + Missense_Mutation SNP A A G TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr2:71633384A>G ENST00000409544.1 + 19 3757 c.3127A>G c.(3127-3129)Aga>Gga p.R1043G ZNF638_ENST00000355812.3_Missense_Mutation_p.R1043G|ZNF638_ENST00000264447.4_Missense_Mutation_p.R1043G NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 1043 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 CATAAGTAATAGAAACAAGGT 0.343000 14 40 0 0 0.024245 0 0 BTBD8 284697 broad.mit.edu 37 1 92604948 92604948 + Missense_Mutation SNP A A G TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr1:92604948A>G ENST00000370382.3 + 6 1061 c.794A>G c.(793-795)tAt>tGt p.Y265C BTBD8_ENST00000540648.1_Missense_Mutation_p.Y265C|BTBD8_ENST00000342818.3_Missense_Mutation_p.Y265C Q5XKL5 BTBD8_HUMAN BTB (POZ) domain containing 8 265 BTB 2. nucleus breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1) 16 all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222) all cancers(265;0.0153)|Epithelial(280;0.0982) CATTTTATATATGGAGGAACT 0.294000 22 97 0 0 0.018920 0 0 HNRNPU 3192 broad.mit.edu 37 1 245021401 245021401 + Missense_Mutation SNP A A G TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr1:245021401A>G ENST00000444376.2 - 7 1583 c.1349T>C c.(1348-1350)aTa>aCa p.I450T HNRNPU_ENST00000283179.9_Missense_Mutation_p.I469T NM_004501.3|NM_031844.2 NP_004492.2|NP_114032.2 Q00839 HNRPU_HUMAN heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) 469 B30.2/SPRY. CRD-mediated mRNA stabilization catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm ATP binding|DNA binding|protein binding|RNA binding NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.00868) CTCTTCAGGTATTGGAAAATA 0.438000 13 49 0 0 0.013537 0 0 LRFN2 57497 broad.mit.edu 37 6 40360344 40360344 + Missense_Mutation SNP C C T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr6:40360344C>T ENST00000338305.6 - 3 2250 c.1708G>A c.(1708-1710)Gcg>Acg p.A570T NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 570 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) CTCACGGCCGCTGCCATCTTG 0.677000 7 41 0 0 0.004482 0 0 PLA2G4A 5321 broad.mit.edu 37 1 186946794 186946794 + Missense_Mutation SNP T T A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr1:186946794T>A ENST00000367466.3 + 16 1986 c.1834T>A c.(1834-1836)Ttt>Att p.F612I PLA2G4A_ENST00000442353.2_Missense_Mutation_p.F552I NM_024420.2 NP_077734.1 P47712 PA24A_HUMAN phospholipase A2, group IVA (cytosolic, calcium-dependent) 612 PLA2c. phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1) 53 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) TCCTTATGTGTTTGATCGGGA 0.418000 23 77 0 0 0.018920 0 0 RNF19B 127544 broad.mit.edu 37 1 33402524 33402524 + Silent SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr1:33402524G>A ENST00000373456.7 - 9 2081 c.2082C>T c.(2080-2082)gcC>gcT p.A694A RNF19B_ENST00000235150.4_Silent_p.A693A|RNF19B_ENST00000356990.5_3'UTR NM_153341.2 NP_699172.2 Q6ZMZ0 RN19B_HUMAN ring finger protein 19B 694 integral to membrane ligase activity|protein binding|zinc ion binding endometrium(4)|kidney(2)|large_intestine(3)|lung(4) 13 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) TCGAGGGGCAGGCTGCAGTAT 0.587000 41 117 0 0 0.025465 0 0 PPP1R16B 26051 broad.mit.edu 37 20 37464808 37464808 + Missense_Mutation SNP C C A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr20:37464808C>A ENST00000299824.1 + 2 429 c.240C>A c.(238-240)gaC>gaA p.D80E PPP1R16B_ENST00000468265.1_3'UTR|PPP1R16B_ENST00000373331.2_Missense_Mutation_p.D80E NM_015568.2 NP_056383.1 Q96T49 PP16B_HUMAN protein phosphatase 1, regulatory subunit 16B 80 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 49 Myeloproliferative disorder(115;0.00878) TGAGGAACGACGCCGAGGAAG 0.652000 12 41 6.72482e-11 7.68551e-11 0.024245 1 0 LOC220729 220729 broad.mit.edu 37 3 197348646 197348646 + RNA SNP T T C rs138265355 by1000genomes TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr3:197348646T>C ENST00000418868.1 - 0 613 NR_003266.2 TGGGCCTGCCTGCCCTTTCCA 0.532000 5 80 0 0 0.029380 0 0 NIPBL 25836 broad.mit.edu 37 5 37008756 37008756 + Nonsense_Mutation SNP T T G TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr5:37008756T>G ENST00000282516.8 + 20 4851 c.4352T>G c.(4351-4353)tTa>tGa p.L1451* NIPBL_ENST00000448238.2_Nonsense_Mutation_p.L1451* NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 1451 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) CATAGGCAGTTAATTTTGGAA 0.279000 24 116 0 0 0.037714 0 0 ASPM 259266 broad.mit.edu 37 1 197091601 197091601 + Missense_Mutation SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr1:197091601G>A ENST00000367409.4 - 14 3771 c.3515C>T c.(3514-3516)aCg>aTg p.T1172M ASPM_ENST00000294732.7_Missense_Mutation_p.T1172M|ASPM_ENST00000367408.1_Missense_Mutation_p.T422M NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 1172 CH 2. mitosis cytoplasm|nucleus calmodulin binding p.T1172M(1) breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 ACCAGTTTGCGTACATTCCAC 0.413000 9 38 0 0 0.010729 0 0 TPP2 7174 broad.mit.edu 37 13 103295686 103295686 + Missense_Mutation SNP T T C TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr13:103295686T>C ENST00000376052.3 + 17 2151 c.2135T>C c.(2134-2136)cTt>cCt p.L712P TPP2_ENST00000376065.4_Missense_Mutation_p.L712P P29144 TPP2_HUMAN tripeptidyl peptidase II 712 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 52 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TTTTGTTCTCTTCCAGAGAAA 0.373000 12 32 0 0 0.016723 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522727 95522727 + RNA SNP C C A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr2:95522727C>A ENST00000432432.2 - 0 300 NR_040113.1 p.R64L(2) CTGCTTGTCCCGGGCGTCCAG 0.731000 3 39 8.12818e-05 8.36962e-05 0.029380 1 0 YWHAB 7529 broad.mit.edu 37 20 43530339 43530339 + Silent SNP C C T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr20:43530339C>T ENST00000372839.3 + 3 439 c.165C>T c.(163-165)ggC>ggT p.G55G YWHAB_ENST00000479421.1_3'UTR|YWHAB_ENST00000353703.4_Silent_p.G55G NM_003404.3 NP_003395.1 P31946 1433B_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide 55 activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction centrosome|cytosol|melanosome|perinuclear region of cytoplasm histone deacetylase binding|phosphoserine binding|protein domain specific binding breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1) 12 Myeloproliferative disorder(115;0.0122) ATGTGGTAGGCGCCCGCCGCT 0.512000 23 41 0 0 0.016522 0 0 MUC16 94025 broad.mit.edu 37 19 8966769 8966769 + Missense_Mutation SNP A A G TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr19:8966769A>G ENST00000397910.4 - 81 43387 c.43184T>C c.(43183-43185)tTc>tCc p.F14395S MUC16_ENST00000380951.5_Missense_Mutation_p.F1036S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 14493 Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CAGTGGCGAGAAGTTACACAG 0.527000 2 7 0 0 0.004672 0 0 FAHD2A 51011 broad.mit.edu 37 2 96072879 96072879 + Missense_Mutation SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr2:96072879G>A ENST00000233379.4 + 3 589 c.436G>A c.(436-438)Gag>Aag p.E146K FAHD2A_ENST00000447036.1_Missense_Mutation_p.E146K NM_016044.2 NP_057128.2 Q96GK7 FAH2A_HUMAN fumarylacetoacetate hydrolase domain containing 2A 146 hydrolase activity|metal ion binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1) 8 GCCCTATGATGAGGTGGTCCT 0.562000 18 88 0 0 0.012319 0 0 PIEZO2 63895 broad.mit.edu 37 18 10691302 10691302 + Missense_Mutation SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr18:10691302G>A ENST00000302079.6 - 44 6930 c.6931C>T c.(6931-6933)Cgt>Tgt p.R2311C PIEZO2_ENST00000503781.3_Missense_Mutation_p.R2311C|PIEZO2_ENST00000538948.1_Missense_Mutation_p.R268C|PIEZO2_ENST00000580640.1_Missense_Mutation_p.R2336C|PIEZO2_ENST00000285141.4_Missense_Mutation_p.R166C Q9H5I5 PIEZ2_HUMAN piezo-type mechanosensitive ion channel component 2 2311 integral to membrane ion channel activity TAGCCACAACGGATCTGGTAA 0.468000 28 69 0 0 0.027356 0 0 PPIL1 51645 broad.mit.edu 37 6 36824426 36824426 + Silent SNP T T C TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr6:36824426T>C ENST00000373699.5 - 3 467 c.216A>G c.(214-216)cgA>cgG p.R72R PPIL1_ENST00000483552.1_5'UTR NM_016059.4 NP_057143.1 Q9Y3C6 PPIL1_HUMAN peptidylprolyl isomerase (cyclophilin)-like 1 72 PPIase cyclophilin-type. protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity lung(1)|ovary(1) 2 ATGCACCACCTCGACCTGCCC 0.458000 12 45 0 0 0.013537 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144923767 144923767 + Missense_Mutation SNP T T C TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr1:144923767T>C ENST00000529945.1 - 2 1619 c.1180A>G c.(1180-1182)Ata>Gta p.I394V PDE4DIP_ENST00000479408.2_Missense_Mutation_p.I18V|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.I231V|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.I368V|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.I394V|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.I368V|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.I231V|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.I231V|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.I231V|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.I297V Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 231 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TGCTGAGTTATAGTGGTCTCA 0.448000 T PDGFRB MPD 32 221 0 0 0.045705 0 0 TH 7054 broad.mit.edu 37 11 2190937 2190937 + Silent SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr11:2190937G>A ENST00000381178.1 - 3 366 c.348C>T c.(346-348)ctC>ctT p.L116L TH_ENST00000381175.1_Silent_p.L112L|TH_ENST00000333684.5_Silent_p.L89L|TH_ENST00000352909.3_Silent_p.L85L NM_199292.2 NP_954986.2 P07101 TY3H_HUMAN tyrosine hydroxylase 116 dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum protein binding|tyrosine 3-monooxygenase activity NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1) 11 all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416) Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154) L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360) TCGGGGAGAAGAGCAGGTTTA 0.672000 30 71 0 0 0.017118 0 0 TFAP2A 7020 broad.mit.edu 37 6 10415240 10415240 + Translation_Start_Site SNP G G C TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr6:10415240G>C ENST00000379613.3 - 0 241 TFAP2A_ENST00000319516.4_Intron|TFAP2A_ENST00000379604.2_De_novo_Start_InFrame|RP1-290I10.6_ENST00000443546.1_RNA|RP1-290I10.6_ENST00000420777.1_RNA|TFAP2A_ENST00000482890.1_De_novo_Start_InFrame P05549 AP2A_HUMAN transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter centrosome|Golgi apparatus|nucleus chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 13 Breast(50;0.0427)|Ovarian(93;0.0991) all_hematologic(90;0.107) GGCGTGAACGGATATGCCCCT 0.592000 OREG0017182 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 66 0 0 0.020292 0 0 CASZ1 54897 broad.mit.edu 37 1 10715709 10715710 + Frame_Shift_Ins INS - - A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr1:10715709_10715710insA ENST00000377022.3 - 9 1978_1979 c.1661_1662insT c.(1660-1662)acafs p.T554fs CASZ1_ENST00000344008.5_Frame_Shift_Ins_p.T554fs NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 554 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) GAGGCACCTGCATGCAGTGATA 0.678 18 11 --- --- --- --- A3GALT2 127550 broad.mit.edu 37 1 33772519 33772519 + Frame_Shift_Del DEL C C - TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr1:33772519delC ENST00000442999.3 - 5 870 c.871delG c.(871-873)agfs p.E291fs A3GALT2_ENST00000330379.5_Frame_Shift_Del_p.E236fs NM_001080438.1 NP_001073907.1 alpha 1,3-galactosyltransferase 2 Myeloproliferative disorder(586;0.0393) AGGTGGCTCTCGTCGTGCCAG 0.736 2 4 --- --- --- --- TRIM59 286827 broad.mit.edu 37 3 160156068 160156069 + Frame_Shift_Del DEL TG TG - TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr3:160156068_160156069delTG ENST00000543469.1 - 2 1117_1118 c.903_904delCA c.(901-906)ctttfs p.LI301fs TRIM59_ENST00000309784.4_Frame_Shift_Del_p.LI301fs|RP11-432B6.3_ENST00000483754.1_Frame_Shift_Del_p.LI301fs Q8IWR1 TRI59_HUMAN tripartite motif containing 59 301 integral to membrane|intracellular zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3) 15 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) ATTTTGGGAATGAGAACGTTCT 0.342 27 110 --- --- --- --- PLEC 5339 broad.mit.edu 37 8 145008578 145008579 + Frame_Shift_Ins INS - - G TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr8:145008578_145008579insG ENST00000322810.4 - 11 1656_1657 c.1487_1488insC c.(1486-1488)cggfs p.R496fs PLEC_ENST00000398774.2_Frame_Shift_Ins_p.R327fs|PLEC_ENST00000356346.3_Frame_Shift_Ins_p.R345fs|PLEC_ENST00000354958.2_Frame_Shift_Ins_p.R337fs|PLEC_ENST00000436759.2_Frame_Shift_Ins_p.R386fs|PLEC_ENST00000354589.3_Frame_Shift_Ins_p.R359fs|PLEC_ENST00000345136.3_Frame_Shift_Ins_p.R359fs|PLEC_ENST00000357649.2_Frame_Shift_Ins_p.R363fs|PLEC_ENST00000527096.1_Frame_Shift_Ins_p.R382fs NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 496 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GGTGGTAGCCAGGGGGCACCTT 0.673 35 73 --- --- --- --- POTEG 404785 broad.mit.edu 37 14 19553545 19553545 + Frame_Shift_Del DEL G G - TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr14:19553545delG ENST00000409832.3 + 1 181 c.129delG c.(127-129)gtfs p.V43fs NM_001005356.2 NP_001005356.1 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 43 cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 AGAGCAACGTGGGCACTTCTG 0.602 48 619 --- --- --- --- RGS9 8787 broad.mit.edu 37 17 63223491 63223491 + Frame_Shift_Del DEL A A - TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr17:63223491delA ENST00000449996.3 + 19 2054 c.1982delA c.(1981-1983)gafs p.E661fs RGS9_ENST00000262406.9_Frame_Shift_Del_p.E664fs NM_001081955.2 NP_001075424.1 O75916 RGS9_HUMAN regulator of G-protein signaling 9 664 intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 CGGGCCACAGAAAAGGAGGTC 0.582 13 36 --- --- --- --- CTC-513N18.6 0 broad.mit.edu 37 19 20635101 20635102 + RNA INS - - T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx f16a5c08-c9f8-442e-ba13-45681cacda40 1455ebfe-ee2b-43e5-a4bb-993118f35835 g.chr19:20635101_20635102insT ENST00000598131.1 + 0 256 ACAGGTAGGTGTTTTTTTTGCT 0.416 3 4 --- --- --- ---