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 NDST1 3340 broad.mit.edu 37 5 149925000 149925000 + Silent SNP C C T TCGA-CF-A47S-01A-11D-A23U-08 TCGA-CF-A47S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc66f1a9-0bea-4137-bda3-df6241ad446a e18f50ad-f783-421b-ac1d-5e982bcc35da g.chr5:149925000C>T ENST00000261797.6 + 11 2599 c.2097C>T c.(2095-2097)gtC>gtT p.V699V NDST1_ENST00000523767.1_Silent_p.V699V NM_001543.4 NP_001534.1 P52848 NDST1_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 699 Heparan sulfate N-sulfotransferase 1. heparan sulfate proteoglycan biosynthetic process|inflammatory response Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 34 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAGCCAAGGTCCTGACCATCC 0.612000 10 179 0 0 1 0 0 NOC2L 26155 broad.mit.edu 37 1 883899 883899 + Missense_Mutation SNP T T G rs72631890 TCGA-CF-A47S-01A-11D-A23U-08 TCGA-CF-A47S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc66f1a9-0bea-4137-bda3-df6241ad446a e18f50ad-f783-421b-ac1d-5e982bcc35da g.chr1:883899T>G ENST00000327044.6 - 13 1577 c.1528A>C c.(1528-1530)Aat>Cat p.N510H NM_015658.3 NP_056473 Q9Y3T9 NOC2L_HUMAN nucleolar complex associated 2 homolog (S. cerevisiae) 510 nucleolus protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 16 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) AGGTTGACATTGGACAGCTTC 0.632000 3 33 0 0 1 0 0 SRL 6345 broad.mit.edu 37 16 4242840 4242840 + Missense_Mutation SNP G G A TCGA-CF-A47S-01A-11D-A23U-08 TCGA-CF-A47S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc66f1a9-0bea-4137-bda3-df6241ad446a e18f50ad-f783-421b-ac1d-5e982bcc35da g.chr16:4242840G>A ENST00000399609.3 - 6 748 c.736C>T c.(736-738)Cgt>Tgt p.R246C SRL_ENST00000537996.1_Missense_Mutation_p.R204C NM_001098814.1 NP_001092284.1 Q86TD4 SRCA_HUMAN sarcalumenin 705 Acidic domain, probably binds calcium (By similarity). sarcoplasmic reticulum lumen GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3) 21 TGGGATTCACGCCCCTTCAAC 0.542000 3 29 0 0 1 0 0 PCDHA3 56145 broad.mit.edu 37 5 140182317 140182317 + Missense_Mutation SNP C C T TCGA-CF-A47S-01A-11D-A23U-08 TCGA-CF-A47S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc66f1a9-0bea-4137-bda3-df6241ad446a e18f50ad-f783-421b-ac1d-5e982bcc35da g.chr5:140182317C>T ENST00000522353.2 + 1 1535 c.1535C>T c.(1534-1536)gCg>gTg p.A512V PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A512V|PCDHA2_ENST00000520672.2_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGGTACACGCGGAGAGCGGC 0.706000 36 108 0 0 1 0 0 CBR1 873 broad.mit.edu 37 21 37445142 37445142 + Nonsense_Mutation SNP G G T TCGA-CF-A47S-01A-11D-A23U-08 TCGA-CF-A47S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc66f1a9-0bea-4137-bda3-df6241ad446a e18f50ad-f783-421b-ac1d-5e982bcc35da g.chr21:37445142G>T ENST00000290349.6 + 3 971 c.796G>T c.(796-798)Gga>Tga p.G266* AP000688.14_ENST00000535199.1_RNA|SETD4_ENST00000399201.1_Intron|CBR1_ENST00000530908.1_3'UTR NM_001757.2 NP_001748.1 P16152 CBR1_HUMAN carbonyl reductase 1 266 drug metabolic process|vitamin K metabolic process cytoplasm 15-hydroxyprostaglandin dehydrogenase (NADP+) activity|carbonyl reductase (NADPH) activity|prostaglandin-E2 9-reductase activity|protein binding endometrium(2)|kidney(3) 5 Acetohexamide(DB00414)|Lubiprostone(DB01046) GGGTCCCCATGGACAATTTGT 0.552000 4 33 1.23904e-05 1.37299e-05 1 1 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-CF-A47S-01A-11D-A23U-08 TCGA-CF-A47S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc66f1a9-0bea-4137-bda3-df6241ad446a e18f50ad-f783-421b-ac1d-5e982bcc35da g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 8 16 0 0 1 0 0 WNT5B 81029 broad.mit.edu 37 12 1748963 1748963 + Missense_Mutation SNP C C T TCGA-CF-A47S-01A-11D-A23U-08 TCGA-CF-A47S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc66f1a9-0bea-4137-bda3-df6241ad446a e18f50ad-f783-421b-ac1d-5e982bcc35da g.chr12:1748963C>T ENST00000397196.2 + 4 674 c.442C>T c.(442-444)Cgg>Tgg p.R148W WNT5B_ENST00000537031.1_Missense_Mutation_p.R148W|WNT5B_ENST00000542408.1_Intron|WNT5B_ENST00000310594.3_Missense_Mutation_p.R148W NM_032642.2 NP_116031.1 Q9H1J7 WNT5B_HUMAN wingless-type MMTV integration site family, member 5B 148 angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding skin(1) 1 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00109) CCGGACGGCGCGGCCCAAGGA 0.731000 7 11 0 0 1 0 0 ADCY9 115 broad.mit.edu 37 16 4043448 4043448 + Missense_Mutation SNP G G T TCGA-CF-A47S-01A-11D-A23U-08 TCGA-CF-A47S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc66f1a9-0bea-4137-bda3-df6241ad446a e18f50ad-f783-421b-ac1d-5e982bcc35da g.chr16:4043448G>T ENST00000294016.3 - 4 2486 c.1948C>A c.(1948-1950)Cct>Act p.P650T ADCY9_ENST00000571889.1_5'UTR NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 650 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CCGTTTTGAGGTGCTCCTCCC 0.542000 7 48 5.4927e-09 6.62355e-09 1 1 0 CYP51A1 1595 broad.mit.edu 37 7 91747927 91747927 + Silent SNP G G C TCGA-CF-A47S-01A-11D-A23U-08 TCGA-CF-A47S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc66f1a9-0bea-4137-bda3-df6241ad446a e18f50ad-f783-421b-ac1d-5e982bcc35da g.chr7:91747927G>C ENST00000003100.8 - 8 1254 c.1089C>G c.(1087-1089)ctC>ctG p.L363L LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Silent_p.L258L NM_000786.3 NP_000777.1 Q16850 CP51A_HUMAN cytochrome P450, family 51, subfamily A, polypeptide 1 357 cholesterol biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|sterol 14-demethylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1) 10 all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251) TTAGATCCTTGAGCTAAAATG 0.323000 3 35 0 0 1 0 0 RND1 27289 broad.mit.edu 37 12 49259511 49259511 + Missense_Mutation SNP A A T TCGA-CF-A47S-01A-11D-A23U-08 TCGA-CF-A47S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc66f1a9-0bea-4137-bda3-df6241ad446a e18f50ad-f783-421b-ac1d-5e982bcc35da g.chr12:49259511A>T ENST00000309739.5 - 1 170 c.40T>A c.(40-42)Tgt>Agt p.C14S NM_014470.3 NP_055285.1 Q92730 RND1_HUMAN Rho family GTPase 1 14 actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction adherens junction|cytoskeleton|cytosol GTP binding|GTPase activity|receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1) 10 ACGAGCTTACATCTGGCCACG 0.617000 28 27 0 0 1 0 0 PI4KAP1 728233 broad.mit.edu 37 22 20386732 20386732 + RNA SNP G G A rs143107404 by1000genomes TCGA-CF-A47S-01A-11D-A23U-08 TCGA-CF-A47S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc66f1a9-0bea-4137-bda3-df6241ad446a e18f50ad-f783-421b-ac1d-5e982bcc35da g.chr22:20386732G>A ENST00000430523.3 - 0 1780 NR_003563.1 GGGCAAGGACGAGTGGTCTGT 0.572000 5 11 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 71004166 71004166 + Nonsense_Mutation SNP G G A TCGA-CF-A47S-01A-11D-A23U-08 TCGA-CF-A47S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc66f1a9-0bea-4137-bda3-df6241ad446a e18f50ad-f783-421b-ac1d-5e982bcc35da g.chr6:71004166G>A ENST00000357250.6 - 5 558 c.400C>T c.(400-402)Cag>Tag p.Q134* COL9A1_ENST00000370496.3_Nonsense_Mutation_p.Q134* NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 134 Nonhelical region (NC4).|TSP N-terminal. axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 GAGGAATCCTGAATCTGCCAA 0.428000 22 61 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24884803 24884803 + Missense_Mutation SNP G G A TCGA-CF-A47S-01A-11D-A23U-08 TCGA-CF-A47S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc66f1a9-0bea-4137-bda3-df6241ad446a e18f50ad-f783-421b-ac1d-5e982bcc35da g.chr14:24884803G>A ENST00000382554.3 + 9 4166 c.3848G>A c.(3847-3849)cGc>cAc p.R1283H NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1283 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 GGGGAGAACCGCCTGCTCACC 0.612000 19 58 0 0 1 0 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240627 39240627 + Missense_Mutation SNP T T C rs139671425 by1000genomes TCGA-CF-A47S-01A-11D-A23U-08 TCGA-CF-A47S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc66f1a9-0bea-4137-bda3-df6241ad446a e18f50ad-f783-421b-ac1d-5e982bcc35da g.chr17:39240627T>C ENST00000391417.4 + 1 169 c.169T>C c.(169-171)Tct>Cct p.S57P NM_033061.3 NP_149050.3 keratin associated protein 4-7 p.S57P(4) NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 GTGCTGCCAGTCTGTGTGCTG 0.667000 4 40 0 0 1 0 0 AIMP2 7965 broad.mit.edu 37 7 6063231 6063231 + Missense_Mutation SNP G G T TCGA-CF-A47S-01A-11D-A23U-08 TCGA-CF-A47S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc66f1a9-0bea-4137-bda3-df6241ad446a e18f50ad-f783-421b-ac1d-5e982bcc35da g.chr7:6063231G>T ENST00000223029.3 + 4 991 c.872G>T c.(871-873)tGc>tTc p.C291F AIMP2_ENST00000395236.2_Missense_Mutation_p.C222F|AIMP2_ENST00000400479.2_Missense_Mutation_p.C213F|EIF2AK1_ENST00000199389.6_3'UTR NM_006303.3 NP_006294.2 Q13155 AIMP2_HUMAN aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 291 GST C-terminal. apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation cytosol|nucleus protein binding large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 ATCGGAGGCTGCAGTGTGACA 0.542000 7 29 2.0095e-06 2.35398e-06 1 1 0 PGR 5241 broad.mit.edu 37 11 100922293 100922293 + Missense_Mutation SNP C C T rs149186732 byFrequency TCGA-CF-A47S-01A-11D-A23U-08 TCGA-CF-A47S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc66f1a9-0bea-4137-bda3-df6241ad446a e18f50ad-f783-421b-ac1d-5e982bcc35da g.chr11:100922293C>T ENST00000325455.5 - 5 3672 c.2219G>A c.(2218-2220)cGa>cAa p.R740Q PGR_ENST00000534013.1_Missense_Mutation_p.R146Q|PGR_ENST00000263463.5_Missense_Mutation_p.R638Q NM_000926.4|NM_001202474.1|NM_001271162.1 NP_000917.3|NP_001189403.1|NP_001258091.1 P06401 PRGR_HUMAN progesterone receptor 740 Steroid-binding. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding p.R740Q(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) ATGTAAGTTTCGAAAACCTAC 0.328000 13 11 0 0 1 0 0 TRAFD1 10906 broad.mit.edu 37 12 112572632 112572632 + Silent SNP T T C TCGA-CF-A47S-01A-11D-A23U-08 TCGA-CF-A47S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc66f1a9-0bea-4137-bda3-df6241ad446a e18f50ad-f783-421b-ac1d-5e982bcc35da g.chr12:112572632T>C ENST00000257604.5 + 3 755 c.138T>C c.(136-138)ttT>ttC p.F46F TRAFD1_ENST00000412615.2_Silent_p.F46F NM_001143906.1 NP_001137378.1 O14545 TRAD1_HUMAN TRAF-type zinc finger domain containing 1 46 negative regulation of innate immune response intracellular protein binding|zinc ion binding kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 17 AGGAACCATTTCCCAAATCTG 0.408000 8 68 0 0 1 0 0 DKK1 22943 broad.mit.edu 37 10 54074410 54074410 + Silent SNP T T C TCGA-CF-A47S-01A-11D-A23U-08 TCGA-CF-A47S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc66f1a9-0bea-4137-bda3-df6241ad446a e18f50ad-f783-421b-ac1d-5e982bcc35da g.chr10:54074410T>C ENST00000373970.3 + 1 355 c.216T>C c.(214-216)aaT>aaC p.N72N NM_012242.2 NP_036374.1 O94907 DKK1_HUMAN dickkopf WNT signaling pathway inhibitor 1 72 negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization extracellular space|plasma membrane growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 16 CGGGCGGGAATAAGTACCAGA 0.627000 OREG0020191 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 33 0 0 1 0 0 SLC11A1 6556 broad.mit.edu 37 2 219252542 219252542 + Missense_Mutation SNP A A G TCGA-CF-A47S-01A-11D-A23U-08 TCGA-CF-A47S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc66f1a9-0bea-4137-bda3-df6241ad446a e18f50ad-f783-421b-ac1d-5e982bcc35da g.chr2:219252542A>G ENST00000233202.6 + 8 999 c.659A>G c.(658-660)gAg>gGg p.E220G SLC11A1_ENST00000539932.1_Missense_Mutation_p.E102G NM_000578.3 NP_000569.3 P49279 NRAM1_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 220 activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCGCGTCCTGAGCAGGGAGCG 0.682000 9 7 0 0 1 0 0 TOR1A 1861 broad.mit.edu 37 9 132581155 132581155 + Silent SNP C C T TCGA-CF-A47S-01A-11D-A23U-08 TCGA-CF-A47S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc66f1a9-0bea-4137-bda3-df6241ad446a e18f50ad-f783-421b-ac1d-5e982bcc35da g.chr9:132581155C>T ENST00000351698.4 - 3 537 c.489G>A c.(487-489)gcG>gcA p.A163A NM_000113.2 NP_000104.1 O14656 TOR1A_HUMAN torsin family 1, member A (torsin A) 163 chaperone mediated protein folding requiring cofactor|response to unfolded protein endoplasmic reticulum lumen|nuclear membrane ATP binding|serine-type endopeptidase activity|unfolded protein binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Ovarian(14;0.00556) AGATGGACCTCGCACAGGCAC 0.468000 9 19 0 0 1 0 0 CBR1 873 broad.mit.edu 37 21 37445143 37445143 + Missense_Mutation SNP G G T TCGA-CF-A47S-01A-11D-A23U-08 TCGA-CF-A47S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc66f1a9-0bea-4137-bda3-df6241ad446a e18f50ad-f783-421b-ac1d-5e982bcc35da g.chr21:37445143G>T ENST00000290349.6 + 3 972 c.797G>T c.(796-798)gGa>gTa p.G266V AP000688.14_ENST00000535199.1_RNA|SETD4_ENST00000399201.1_Intron|CBR1_ENST00000530908.1_3'UTR NM_001757.2 NP_001748.1 P16152 CBR1_HUMAN carbonyl reductase 1 266 drug metabolic process|vitamin K metabolic process cytoplasm 15-hydroxyprostaglandin dehydrogenase (NADP+) activity|carbonyl reductase (NADPH) activity|prostaglandin-E2 9-reductase activity|protein binding endometrium(2)|kidney(3) 5 Acetohexamide(DB00414)|Lubiprostone(DB01046) GGTCCCCATGGACAATTTGTT 0.557000 4 33 1.23904e-05 1.37299e-05 1 1 0 WASH3P 374666 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-CF-A47S-01A-11D-A23U-08 TCGA-CF-A47S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc66f1a9-0bea-4137-bda3-df6241ad446a e18f50ad-f783-421b-ac1d-5e982bcc35da g.chr15:102515299G>A ENST00000557932.1 + 0 1145 p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 4 12 0 0 1 0 0 RGS16 6004 broad.mit.edu 37 1 182569575 182569575 + Missense_Mutation SNP G G A TCGA-CF-A47S-01A-11D-A23U-08 TCGA-CF-A47S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc66f1a9-0bea-4137-bda3-df6241ad446a e18f50ad-f783-421b-ac1d-5e982bcc35da g.chr1:182569575G>A ENST00000367558.5 - 5 609 c.461C>T c.(460-462)gCg>gTg p.A154V NM_002928.3 NP_002919.3 O15492 RGS16_HUMAN regulator of G-protein signaling 16 154 RGS. negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1) 11 CCCCTGAGCCGCATCAAAGCA 0.602000 4 74 0 0 1 0 0 GABBR1 2550 broad.mit.edu 37 6 29581118 29581118 + Missense_Mutation SNP G G A TCGA-CF-A47S-01A-11D-A23U-08 TCGA-CF-A47S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc66f1a9-0bea-4137-bda3-df6241ad446a e18f50ad-f783-421b-ac1d-5e982bcc35da g.chr6:29581118G>A ENST00000377034.4 - 12 1803 c.1468C>T c.(1468-1470)Cgt>Tgt p.R490C GABBR1_ENST00000377012.4_Missense_Mutation_p.R373C|GABBR1_ENST00000376977.3_Missense_Mutation_p.R490C|GABBR1_ENST00000377016.4_Missense_Mutation_p.R428C|GABBR1_ENST00000355973.3_Missense_Mutation_p.R373C NM_001470.2 NP_001461.1 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor, 1 490 gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837) ACACCAGAACGGCCGCCTCCT 0.572000 18 61 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131337056 131337056 + Nonsense_Mutation SNP C C T TCGA-CF-A47S-01A-11D-A23U-08 TCGA-CF-A47S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc66f1a9-0bea-4137-bda3-df6241ad446a e18f50ad-f783-421b-ac1d-5e982bcc35da g.chr9:131337056C>T ENST00000358161.5 + 4 579 c.466C>T c.(466-468)Cga>Tga p.R156* SPTAN1_ENST00000372739.3_Nonsense_Mutation_p.R156*|SPTAN1_ENST00000372731.4_Nonsense_Mutation_p.R156* Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 156 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 GCAGTACTTACGAGAATGTGA 0.478000 4 37 0 0 1 0 0 ZNF564 163050 broad.mit.edu 37 19 12637790 12637790 + Missense_Mutation SNP G G T TCGA-CF-A47S-01A-11D-A23U-08 TCGA-CF-A47S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc66f1a9-0bea-4137-bda3-df6241ad446a e18f50ad-f783-421b-ac1d-5e982bcc35da g.chr19:12637790G>T ENST00000339282.7 - 4 1328 c.1132C>A c.(1132-1134)Cca>Aca p.P378T ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR NM_144976.3 NP_659413.1 zinc finger protein 564 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 CGGACACTTGGGAGAGAAATG 0.433000 37 60 3.62531e-18 4.50417e-18 1 1 0 MMP19 4327 broad.mit.edu 37 12 56233305 56233305 + Silent SNP A A G TCGA-CF-A47S-01A-11D-A23U-08 TCGA-CF-A47S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc66f1a9-0bea-4137-bda3-df6241ad446a e18f50ad-f783-421b-ac1d-5e982bcc35da g.chr12:56233305A>G ENST00000322569.4 - 5 832 c.741T>C c.(739-741)gaT>gaC p.D247D MMP19_ENST00000548629.1_Silent_p.D224D|MMP19_ENST00000409200.3_Intron NM_002429.4 NP_002420.1 Q99542 MMP19_HUMAN matrix metallopeptidase 19 247 angiogenesis|cell differentiation|collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 26 TCCCTGCCACATCATCTGGGT 0.612000 11 21 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144931089 144931089 + Missense_Mutation SNP C C T TCGA-CF-A47S-01A-11D-A23U-08 TCGA-CF-A47S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc66f1a9-0bea-4137-bda3-df6241ad446a e18f50ad-f783-421b-ac1d-5e982bcc35da g.chr1:144931089C>T ENST00000529945.1 - 1 1059 c.620G>A c.(619-621)tGc>tAc p.C207Y PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.C207Y|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313382.9_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 0 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) TTCTTCAGTGCAAATGCTGGT 0.542000 T PDGFRB MPD 13 61 0 0 1 0 0 C4orf27 54969 broad.mit.edu 37 4 170658885 170658885 + Missense_Mutation SNP G G C TCGA-CF-A47S-01A-11D-A23U-08 TCGA-CF-A47S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc66f1a9-0bea-4137-bda3-df6241ad446a e18f50ad-f783-421b-ac1d-5e982bcc35da g.chr4:170658885G>C ENST00000393381.2 - 6 737 c.662C>G c.(661-663)aCc>aGc p.T221S NM_017867.2 NP_060337.2 Q9NWY4 CD027_HUMAN chromosome 4 open reading frame 27 221 nucleus NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1) 12 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116) ACCATGAAAGGTCTTTGTCAC 0.353000 3 33 0 0 1 0 0 AIMP2 7965 broad.mit.edu 37 7 6063232 6063232 + Missense_Mutation SNP C C G TCGA-CF-A47S-01A-11D-A23U-08 TCGA-CF-A47S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc66f1a9-0bea-4137-bda3-df6241ad446a e18f50ad-f783-421b-ac1d-5e982bcc35da g.chr7:6063232C>G ENST00000223029.3 + 4 992 c.873C>G c.(871-873)tgC>tgG p.C291W AIMP2_ENST00000395236.2_Missense_Mutation_p.C222W|AIMP2_ENST00000400479.2_Missense_Mutation_p.C213W|EIF2AK1_ENST00000199389.6_3'UTR NM_006303.3 NP_006294.2 Q13155 AIMP2_HUMAN aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 291 GST C-terminal. apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation cytosol|nucleus protein binding large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 TCGGAGGCTGCAGTGTGACAG 0.542000 7 30 0 0 1 0 0 TRMT61B 55006 broad.mit.edu 37 2 29092834 29092834 + Missense_Mutation SNP C C A TCGA-CF-A47S-01A-11D-A23U-08 TCGA-CF-A47S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc66f1a9-0bea-4137-bda3-df6241ad446a e18f50ad-f783-421b-ac1d-5e982bcc35da g.chr2:29092834C>A ENST00000306108.5 - 1 333 c.310G>T c.(310-312)Gac>Tac p.D104Y NM_017910.3 NP_060380.3 Q9BVS5 TR61B_HUMAN tRNA methyltransferase 61 homolog B (S. cerevisiae) 104 tRNA (adenine-N1-)-methyltransferase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(8) 13 CCGCTCGAGTCCTCGAGCTCT 0.627000 5 34 0.0293803 0.0293803 1 1 0 WDR81 124997 broad.mit.edu 37 17 1637151 1637151 + Missense_Mutation SNP C C T TCGA-CF-A47S-01A-11D-A23U-08 TCGA-CF-A47S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc66f1a9-0bea-4137-bda3-df6241ad446a e18f50ad-f783-421b-ac1d-5e982bcc35da g.chr17:1637151C>T ENST00000409644.1 + 7 4820 c.4820C>T c.(4819-4821)cCg>cTg p.P1607L RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Missense_Mutation_p.P238L|WDR81_ENST00000419248.1_Missense_Mutation_p.P380L|WDR81_ENST00000309182.5_Missense_Mutation_p.P556L|WDR81_ENST00000446363.1_Missense_Mutation_p.P246L|WDR81_ENST00000437219.2_Missense_Mutation_p.P404L NM_001163809.1 NP_001157281.1 B3KXU1 B3KXU1_HUMAN WD repeat domain 81 380 cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CAGGAGCTGCCGCGGAGCGTG 0.687000 15 56 0 0 1 0 0 RP11-435B5.5 0 broad.mit.edu 37 1 143391935 143391936 + RNA INS - - TG TCGA-CF-A47S-01A-11D-A23U-08 TCGA-CF-A47S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc66f1a9-0bea-4137-bda3-df6241ad446a e18f50ad-f783-421b-ac1d-5e982bcc35da g.chr1:143391935_143391936insTG ENST00000428624.1 + 0 2065 RP11-435B5.4_ENST00000423249.1_lincRNA ATATATATATATAAAGAGATTG 0.252 3 3 --- --- --- --- SPTBN1 6711 broad.mit.edu 37 2 54839354 54839357 + Frame_Shift_Del DEL CCTT CCTT - TCGA-CF-A47S-01A-11D-A23U-08 TCGA-CF-A47S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc66f1a9-0bea-4137-bda3-df6241ad446a e18f50ad-f783-421b-ac1d-5e982bcc35da g.chr2:54839354_54839357delCCTT ENST00000333896.5 + 3 703_706 c.318_321delCCTT c.(316-321)gcccttfs p.AL106fs SPTBN1_ENST00000356805.4_Frame_Shift_Del_p.AL119fs NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 119 Actin-binding.|CH 1. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) TGGACAAGGCCCTTCAGTTCCTGA 0.534 12 56 --- --- --- --- ACTB 60 broad.mit.edu 37 7 5568826 5568827 + Frame_Shift_Ins INS - - G TCGA-CF-A47S-01A-11D-A23U-08 TCGA-CF-A47S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc66f1a9-0bea-4137-bda3-df6241ad446a e18f50ad-f783-421b-ac1d-5e982bcc35da g.chr7:5568826_5568827insG ENST00000331789.5 - 3 519_520 c.328_329insC c.(328-330)ctgfs p.L110fs NM_001101.3 NP_001092.1 P60709 ACTB_HUMAN actin, beta 110 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2) 8 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) CTTGGGGTTCAGGGGGGCCTCG 0.649 15 28 --- --- --- --- TRIM50 135892 broad.mit.edu 37 7 72727177 72727177 + Frame_Shift_Del DEL G G - TCGA-CF-A47S-01A-11D-A23U-08 TCGA-CF-A47S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc66f1a9-0bea-4137-bda3-df6241ad446a e18f50ad-f783-421b-ac1d-5e982bcc35da g.chr7:72727177delG ENST00000333149.2 - 7 1404 c.1204delC c.(1204-1206)cggfs p.R402fs TRIM50_ENST00000453152.1_Frame_Shift_Del_p.R402fs NM_178125.2 NP_835226.2 Q86XT4 TRI50_HUMAN tripartite motif containing 50 402 B30.2/SPRY. cytoplasm|intracellular membrane-bounded organelle ligase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2) 20 AGGGGTACCCGGGGGCAGGCA 0.677 2 4 --- --- --- --- CTBP2 1488 broad.mit.edu 37 10 126682434 126682437 + Frame_Shift_Del DEL CTGA CTGA - rs112585658 TCGA-CF-A47S-01A-11D-A23U-08 TCGA-CF-A47S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc66f1a9-0bea-4137-bda3-df6241ad446a e18f50ad-f783-421b-ac1d-5e982bcc35da g.chr10:126682434_126682437delCTGA ENST00000309035.6 - 6 2648_2651 c.2518_2521delTCAG c.(2518-2523)tcagagfs p.SE840fs CTBP2_ENST00000337195.5_Frame_Shift_Del_p.SE300fs|CTBP2_ENST00000334808.6_Frame_Shift_Del_p.SE368fs|CTBP2_ENST00000531469.1_Frame_Shift_Del_p.SE300fs|CTBP2_ENST00000411419.2_Frame_Shift_Del_p.SE300fs|CTBP2_ENST00000494626.2_Frame_Shift_Del_p.SE300fs NM_022802.2 NP_073713.2 P56545 CTBP2_HUMAN C-terminal binding protein 2 300 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) CTGAAGGGCTCTGACTCATGCACG 0.637 17 76 --- --- --- --- PDS5B 23047 broad.mit.edu 37 13 33344887 33344888 + Frame_Shift_Ins INS - - A TCGA-CF-A47S-01A-11D-A23U-08 TCGA-CF-A47S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc66f1a9-0bea-4137-bda3-df6241ad446a e18f50ad-f783-421b-ac1d-5e982bcc35da g.chr13:33344887_33344888insA ENST00000315596.10 + 33 4346_4347 c.4160_4161insA c.(4159-4164)ccaaaafs p.PK1387fs NM_015032.3 NP_055847.1 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) 1387 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding p.N1390fs*4(1) NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 62 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) CCATCACAACCAAAAAAAAATG 0.337 4 6 --- --- --- --- ZFP36L1 677 broad.mit.edu 37 14 69256981 69256982 + Frame_Shift_Ins INS - - G TCGA-CF-A47S-01A-11D-A23U-08 TCGA-CF-A47S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc66f1a9-0bea-4137-bda3-df6241ad446a e18f50ad-f783-421b-ac1d-5e982bcc35da g.chr14:69256981_69256982insG ENST00000439696.2 - 2 586_587 c.285_286insC c.(283-288)ggcgagfs p.E96fs ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Frame_Shift_Ins_p.E96fs NM_001244701.1|NM_004926.3 NP_001231630.1|NP_004917.2 Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 96 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) AGCAGCCGCTCGCCCCCTTCCG 0.678 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 56 --- --- --- --- MYH11 4629 broad.mit.edu 37 16 15813473 15813473 + Frame_Shift_Del DEL C C - TCGA-CF-A47S-01A-11D-A23U-08 TCGA-CF-A47S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc66f1a9-0bea-4137-bda3-df6241ad446a e18f50ad-f783-421b-ac1d-5e982bcc35da g.chr16:15813473delC ENST00000452625.2 - 36 5159 c.5072delG c.(5071-5073)agcfs p.S1691fs NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000300036.5_Frame_Shift_Del_p.S1684fs|MYH11_ENST00000576790.2_Frame_Shift_Del_p.S1684fs|MYH11_ENST00000396324.3_Frame_Shift_Del_p.S1691fs|NDE1_ENST00000396355.1_Intron NM_001040113.1 NP_001035202.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 1684 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 TGCTTCCAAGCTCTTGGCTTT 0.537 T CBFB AML 10 83 --- --- --- --- PLCD3 113026 broad.mit.edu 37 17 43209664 43209664 + Frame_Shift_Del DEL G G - TCGA-CF-A47S-01A-11D-A23U-08 TCGA-CF-A47S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc66f1a9-0bea-4137-bda3-df6241ad446a e18f50ad-f783-421b-ac1d-5e982bcc35da g.chr17:43209664delG ENST00000322765.5 - 1 227 c.114delC c.(112-114)cccfs p.P38fs PLCD3_ENST00000540511.1_5'UTR NM_133373.3 NP_588614.1 Q8N3E9 PLCD3_HUMAN phospholipase C, delta 3 38 intracellular signal transduction|lipid catabolic process cleavage furrow|cytoplasm|membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2) 17 Phosphatidylserine(DB00144) CGCCATCGGAGGGAGTCGGCG 0.766 2 4 --- --- --- --- MN1 4330 broad.mit.edu 37 22 28194934 28194936 + In_Frame_Del DEL TGC TGC - rs45480998 TCGA-CF-A47S-01A-11D-A23U-08 TCGA-CF-A47S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc66f1a9-0bea-4137-bda3-df6241ad446a e18f50ad-f783-421b-ac1d-5e982bcc35da g.chr22:28194934_28194936delTGC ENST00000302326.4 - 1 2550_2552 c.1596_1598delGCA c.(1594-1599)cagcaa>caa p.532_533QQ>Q NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 532 Poly-Gln. binding p.Q532Q(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 ctgctgctgttgctgctgctgct 0.650 T ETV6 """AML, meningioma""" 3 5 --- --- --- ---