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 HLA-DQB2 3120 broad.mit.edu 37 6 32726684 32726684 + Missense_Mutation SNP T T C TCGA-EM-A3O6-01A-11D-A21Z-08 TCGA-EM-A3O6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218ddc02-caab-436d-b47c-e4f07635203e e0b8abac-6f27-4ab9-9543-28c721de2bf1 g.chr6:32726684T>C ENST00000435145.2 - 3 650 c.589A>G c.(589-591)Atc>Gtc p.I197V HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.I197V|HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.I197V Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 197 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 CAGGTGTAGATGTCTCCACGC 0.567000 4 95 0 0 1 0 0 ZNF669 79862 broad.mit.edu 37 1 247264279 247264279 + Silent SNP T T G TCGA-EM-A3O6-01A-11D-A21Z-08 TCGA-EM-A3O6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218ddc02-caab-436d-b47c-e4f07635203e e0b8abac-6f27-4ab9-9543-28c721de2bf1 g.chr1:247264279T>G ENST00000343381.6 - 4 964 c.792A>C c.(790-792)tcA>tcC p.S264S ZNF669_ENST00000366501.1_3'UTR|ZNF669_ENST00000358785.4_3'UTR|ZNF669_ENST00000448299.2_Silent_p.S178S NM_024804.2 NP_079080.2 Q96BR6 ZN669_HUMAN zinc finger protein 669 264 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6) 17 all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053) OV - Ovarian serous cystadenocarcinoma(106;0.00427) GTCTTTCAACTGAATTGAGAA 0.363000 5 79 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21731270 21731270 + Missense_Mutation SNP T T C TCGA-EM-A3O6-01A-11D-A21Z-08 TCGA-EM-A3O6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218ddc02-caab-436d-b47c-e4f07635203e e0b8abac-6f27-4ab9-9543-28c721de2bf1 g.chr17:21731270T>C ENST00000584755.1 + 2 969 c.572T>C c.(571-573)aTc>aCc p.I191T UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron p.I191T(3) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 ATCCCCCCGATCAGCAGAGGC 0.547000 4 123 0 0 1 0 0 ZNF749 388567 broad.mit.edu 37 19 57955884 57955884 + Silent SNP C C T TCGA-EM-A3O6-01A-11D-A21Z-08 TCGA-EM-A3O6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218ddc02-caab-436d-b47c-e4f07635203e e0b8abac-6f27-4ab9-9543-28c721de2bf1 g.chr19:57955884C>T ENST00000334181.4 + 3 1618 c.1368C>T c.(1366-1368)caC>caT p.H456H AC004076.9_ENST00000596831.1_Intron NM_001023561.2 NP_001018855.2 O43361 ZN749_HUMAN zinc finger protein 749 456 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H369H(1)|p.H456H(1) breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1) 13 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;0.0264)|Lung(386;0.177) TAGTTCAGCACCAGAAAATCC 0.423000 4 127 0 0 1 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72664015 72664015 + RNA SNP C C G TCGA-EM-A3O6-01A-11D-A21Z-08 TCGA-EM-A3O6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218ddc02-caab-436d-b47c-e4f07635203e e0b8abac-6f27-4ab9-9543-28c721de2bf1 g.chr7:72664015C>G ENST00000425256.1 - 0 885 NR_002164.1 ATACCACCCCCGGGGCATGCC 0.507000 3 29 0 0 1 0 0 LENG8 114823 broad.mit.edu 37 19 54963317 54963317 + Missense_Mutation SNP T T C TCGA-EM-A3O6-01A-11D-A21Z-08 TCGA-EM-A3O6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218ddc02-caab-436d-b47c-e4f07635203e e0b8abac-6f27-4ab9-9543-28c721de2bf1 g.chr19:54963317T>C ENST00000326764.5 + 3 565 c.86T>C c.(85-87)aTg>aCg p.M29T LENG8_ENST00000376514.2_Missense_Mutation_p.M29T NM_052925.2 NP_443157.1 Q96PV6 LENG8_HUMAN leukocyte receptor cluster (LRC) member 8 29 protein binding breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.139) GAGAATGGCATGGAGACGCCG 0.617000 4 125 0 0 1 0 0 ZNF749 388567 broad.mit.edu 37 19 57955885 57955885 + Missense_Mutation SNP C C G TCGA-EM-A3O6-01A-11D-A21Z-08 TCGA-EM-A3O6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218ddc02-caab-436d-b47c-e4f07635203e e0b8abac-6f27-4ab9-9543-28c721de2bf1 g.chr19:57955885C>G ENST00000334181.4 + 3 1619 c.1369C>G c.(1369-1371)Cag>Gag p.Q457E AC004076.9_ENST00000596831.1_Intron NM_001023561.2 NP_001018855.2 O43361 ZN749_HUMAN zinc finger protein 749 457 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q457E(1)|p.Q370E(1) breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1) 13 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;0.0264)|Lung(386;0.177) AGTTCAGCACCAGAAAATCCA 0.423000 4 125 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110857850 110857850 + Silent SNP T T C TCGA-EM-A3O6-01A-11D-A21Z-08 TCGA-EM-A3O6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218ddc02-caab-436d-b47c-e4f07635203e e0b8abac-6f27-4ab9-9543-28c721de2bf1 g.chr13:110857850T>C ENST00000375820.4 - 16 1015 c.894A>G c.(892-894)aaA>aaG p.K298K COL4A1_ENST00000543140.1_Silent_p.K298K NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 298 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CGGGACTCCCTTTTTCCCCTT 0.463000 5 293 0 0 1 0 0 PHF8 23133 broad.mit.edu 37 X 54048691 54048691 + Splice_Site SNP C C A TCGA-EM-A3O6-01A-11D-A21Z-08 TCGA-EM-A3O6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218ddc02-caab-436d-b47c-e4f07635203e e0b8abac-6f27-4ab9-9543-28c721de2bf1 g.chrX:54048691C>A ENST00000338154.6 - 4 798 c.e4+1 PHF8_ENST00000322659.8_Splice_Site|PHF8_ENST00000357988.5_Splice_Site|PHF8_ENST00000338946.6_Splice_Site NM_015107.2 NP_055922.1 Q9UPP1 PHF8_HUMAN PHD finger protein 8 brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent nucleolus chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 40 GGGTTCCTCACCTGTCAAAAG 0.572000 32 82 2.46105e-21 2.53344e-21 1 1 0 CSMD3 114788 broad.mit.edu 37 8 113259316 113259316 + Silent SNP G G A TCGA-EM-A3O6-01A-11D-A21Z-08 TCGA-EM-A3O6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218ddc02-caab-436d-b47c-e4f07635203e e0b8abac-6f27-4ab9-9543-28c721de2bf1 g.chr8:113259316G>A ENST00000297405.5 - 64 10399 c.10155C>T c.(10153-10155)ctC>ctT p.L3385L CSMD3_ENST00000343508.3_Silent_p.L3345L|CSMD3_ENST00000455883.2_Silent_p.L3216L|CSMD3_ENST00000352409.3_Silent_p.L3315L NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3385 Sushi 27. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TAGACCCTTGGAGAAGGTGTC 0.398000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 3 66 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152496938 152496938 + Missense_Mutation SNP G G C TCGA-EM-A3O6-01A-11D-A21Z-08 TCGA-EM-A3O6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218ddc02-caab-436d-b47c-e4f07635203e e0b8abac-6f27-4ab9-9543-28c721de2bf1 g.chr2:152496938G>C ENST00000427231.2 - 61 8818 c.8616C>G c.(8614-8616)caC>caG p.H2872Q NEB_ENST00000603639.1_Missense_Mutation_p.H2872Q|NEB_ENST00000409198.1_Missense_Mutation_p.H2872Q|NEB_ENST00000172853.10_Missense_Mutation_p.H2872Q|NEB_ENST00000604864.1_Missense_Mutation_p.H2872Q|NEB_ENST00000397345.3_Missense_Mutation_p.H2872Q NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 2872 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) ATGTCCACTGGTGCAGGTAGT 0.562000 12 299 0 0 1 0 0 KRTAP27-1 643812 broad.mit.edu 37 21 31709485 31709485 + Missense_Mutation SNP G G C TCGA-EM-A3O6-01A-11D-A21Z-08 TCGA-EM-A3O6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218ddc02-caab-436d-b47c-e4f07635203e e0b8abac-6f27-4ab9-9543-28c721de2bf1 g.chr21:31709485G>C ENST00000382835.2 - 1 527 c.502C>G c.(502-504)Cct>Gct p.P168A NM_001077711.1 NP_001071179.1 Q3LI81 KR271_HUMAN keratin associated protein 27-1 168 intermediate filament endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1) 18 CTGGATTCAGGGTTCTGAGAC 0.478000 5 113 0 0 1 0 0 TRH 7200 broad.mit.edu 37 3 129695840 129695840 + Silent SNP G G A TCGA-EM-A3O6-01A-11D-A21Z-08 TCGA-EM-A3O6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218ddc02-caab-436d-b47c-e4f07635203e e0b8abac-6f27-4ab9-9543-28c721de2bf1 g.chr3:129695840G>A ENST00000302649.3 + 3 1037 c.510G>A c.(508-510)gaG>gaA p.E170E TRH_ENST00000507066.1_Silent_p.E166E NM_007117.3 NP_009048.1 P20396 TRH_HUMAN thyrotropin-releasing hormone 170 cell-cell signaling|hormone-mediated signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|thyrotropin-releasing hormone activity p.E170E(1) NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1) 14 Gggaagaagaggaggaggagg 0.642000 3 58 0 0 1 0 0 CASZ1 54897 broad.mit.edu 37 1 10713462 10713462 + Silent SNP G G A TCGA-EM-A3O6-01A-11D-A21Z-08 TCGA-EM-A3O6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218ddc02-caab-436d-b47c-e4f07635203e e0b8abac-6f27-4ab9-9543-28c721de2bf1 g.chr1:10713462G>A ENST00000377022.3 - 11 2969 c.2652C>T c.(2650-2652)gcC>gcT p.A884A RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Silent_p.A884A NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 884 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) AGGGCTTGAGGGCAGCTGCAG 0.657000 27 44 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661478 22661478 + RNA SNP T T G TCGA-EM-A3O6-01A-11D-A21Z-08 TCGA-EM-A3O6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218ddc02-caab-436d-b47c-e4f07635203e e0b8abac-6f27-4ab9-9543-28c721de2bf1 g.chr22:22661478T>G ENST00000426066.1 + 0 368 NR_027293.1 CAGATGCGTCTGAAGAAACAT 0.488000 3 79 0 0 1 0 0 PIK3R1 5295 broad.mit.edu 37 5 67592034 67592034 + Missense_Mutation SNP C C G TCGA-EM-A3O6-01A-11D-A21Z-08 TCGA-EM-A3O6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218ddc02-caab-436d-b47c-e4f07635203e e0b8abac-6f27-4ab9-9543-28c721de2bf1 g.chr5:67592034C>G ENST00000521381.1 + 15 2466 c.1850C>G c.(1849-1851)cCc>cGc p.P617R PIK3R1_ENST00000396611.1_Missense_Mutation_p.P625R|PIK3R1_ENST00000336483.5_Missense_Mutation_p.P347R|PIK3R1_ENST00000320694.8_Missense_Mutation_p.P317R|PIK3R1_ENST00000274335.5_Missense_Mutation_p.P617R|PIK3R1_ENST00000521657.1_Missense_Mutation_p.P617R|PIK3R1_ENST00000523872.1_Missense_Mutation_p.P254R NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 617 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.0?(1)|p.?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) GAAGATTTGCCCCATCATGAT 0.488000 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 34 91 0 0 1 0 0 PTEN 5728 broad.mit.edu 37 10 89717730 89717730 + Missense_Mutation SNP A A T rs121909239 TCGA-EM-A3O6-01A-11D-A21Z-08 TCGA-EM-A3O6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218ddc02-caab-436d-b47c-e4f07635203e e0b8abac-6f27-4ab9-9543-28c721de2bf1 g.chr10:89717730A>T ENST00000371953.3 + 7 2112 c.755A>T c.(754-756)gAt>gTt p.D252V PTEN_ENST00000472832.1_3'UTR NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 252 C2 tensin-type. D -> G (in MCEPHAS). 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.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.D252G(2)|p.G165_*404del(1)|p.?(1)|p.D252_K263>AKE(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) GTGTGTGGTGATATCAAAGTA 0.393000 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) 33 32 0 0 1 0 0 ACSS1 84532 broad.mit.edu 37 20 24988532 24988532 + Missense_Mutation SNP G G A TCGA-EM-A3O6-01A-11D-A21Z-08 TCGA-EM-A3O6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218ddc02-caab-436d-b47c-e4f07635203e e0b8abac-6f27-4ab9-9543-28c721de2bf1 g.chr20:24988532G>A ENST00000537502.1 - 12 3218 c.1687C>T c.(1687-1689)Cgg>Tgg p.R563W ACSS1_ENST00000432802.2_Intron|ACSS1_ENST00000323482.4_Missense_Mutation_p.R646W|ACSS1_ENST00000542618.1_Missense_Mutation_p.R525W|ACSS1_ENST00000484396.1_5'UTR Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 646 acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix acetate-CoA ligase activity|AMP binding|ATP binding|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CTCAGGAGCCGCCGCATGACC 0.567000 3 75 0 0 1 0 0 TCF20 6942 broad.mit.edu 37 22 42610592 42610592 + Silent SNP G G A TCGA-EM-A3O6-01A-11D-A21Z-08 TCGA-EM-A3O6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218ddc02-caab-436d-b47c-e4f07635203e e0b8abac-6f27-4ab9-9543-28c721de2bf1 g.chr22:42610592G>A ENST00000359486.3 - 1 856 c.720C>T c.(718-720)tcC>tcT p.S240S TCF20_ENST00000335626.4_Silent_p.S240S NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 240 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 aggaggaggaggaAGCAGAAG 0.512000 3 70 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-EM-A3O6-01A-11D-A21Z-08 TCGA-EM-A3O6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218ddc02-caab-436d-b47c-e4f07635203e e0b8abac-6f27-4ab9-9543-28c721de2bf1 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 69 0 0 1 0 0 C4B 721 broad.mit.edu 37 6 31996293 31996293 + Silent SNP C C A rs139543260 TCGA-EM-A3O6-01A-11D-A21Z-08 TCGA-EM-A3O6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218ddc02-caab-436d-b47c-e4f07635203e e0b8abac-6f27-4ab9-9543-28c721de2bf1 g.chr6:31996293C>A ENST00000435363.2 + 25 3298 c.3214C>A c.(3214-3216)Cgg>Agg p.R1072R C4B_ENST00000425700.2_Silent_p.R1072R NM_001002029.3 NP_001002029.3 P0C0L5 CO4B_HUMAN complement component 4B (Chido blood group) 1072 complement activation, classical pathway|inflammatory response|innate immune response extracellular space endopeptidase inhibitor activity TTGGTTGTCACGGGGCAGCAG 0.622000 3 82 1 1 1 1 0 KIF14 9928 broad.mit.edu 37 1 200561296 200561296 + Missense_Mutation SNP T T C TCGA-EM-A3O6-01A-11D-A21Z-08 TCGA-EM-A3O6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218ddc02-caab-436d-b47c-e4f07635203e e0b8abac-6f27-4ab9-9543-28c721de2bf1 g.chr1:200561296T>C ENST00000367350.4 - 16 3163 c.2725A>G c.(2725-2727)Agg>Ggg p.R909G NM_014875.2 NP_055690.1 Q15058 KIF14_HUMAN kinesin family member 14 909 Required for CIT-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 CCAGATGGCCTTTTTCCTTTC 0.378000 3 118 0 0 1 0 0 AKNAD1 254268 broad.mit.edu 37 1 109369904 109369904 + Missense_Mutation SNP T T C TCGA-EM-A3O6-01A-11D-A21Z-08 TCGA-EM-A3O6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218ddc02-caab-436d-b47c-e4f07635203e e0b8abac-6f27-4ab9-9543-28c721de2bf1 g.chr1:109369904T>C ENST00000370001.3 - 11 2127 c.1859A>G c.(1858-1860)aAg>aGg p.K620R AKNAD1_ENST00000369995.3_Missense_Mutation_p.K620R|AKNAD1_ENST00000357393.4_Missense_Mutation_p.K327R|AKNAD1_ENST00000369994.1_Missense_Mutation_p.K590R NM_152763.4 NP_689976.2 Q5T1N1 AKND1_HUMAN AKNA domain containing 1 620 breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2) 32 TCCGTGGCCCTTTTTCTCCAC 0.413000 5 251 0 0 1 0 0 ATP1A1 476 broad.mit.edu 37 1 116929945 116929945 + Silent SNP G G A rs147430340 TCGA-EM-A3O6-01A-11D-A21Z-08 TCGA-EM-A3O6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218ddc02-caab-436d-b47c-e4f07635203e e0b8abac-6f27-4ab9-9543-28c721de2bf1 g.chr1:116929945G>A ENST00000537345.1 + 4 582 c.219G>A c.(217-219)gcG>gcA p.A73A ATP1A1_ENST00000295598.5_Silent_p.A73A|ATP1A1_ENST00000369496.4_Silent_p.A42A NM_001160233.1 NP_001153705.1 P05023 AT1A1_HUMAN ATPase, Na+/K+ transporting, alpha 1 polypeptide 73 ATP biosynthetic process melanosome|sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 Lung SC(450;0.225) all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24) Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021) AGATCCTGGCGCGAGATGGTC 0.498000 23 74 0 0 1 0 0 MYO6 4646 broad.mit.edu 37 6 76551012 76551012 + Missense_Mutation SNP T T C TCGA-EM-A3O6-01A-11D-A21Z-08 TCGA-EM-A3O6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218ddc02-caab-436d-b47c-e4f07635203e e0b8abac-6f27-4ab9-9543-28c721de2bf1 g.chr6:76551012T>C ENST00000369981.3 + 9 1012 c.733T>C c.(733-735)Tat>Cat p.Y245H MYO6_ENST00000369985.4_Missense_Mutation_p.Y245H|MYO6_ENST00000369975.1_Missense_Mutation_p.Y245H|MYO6_ENST00000369977.3_Missense_Mutation_p.Y245H Q9UM54 MYO6_HUMAN myosin VI 245 Myosin head-like. actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) GGAAAGAAATTATCATATCTT 0.353000 4 92 0 0 1 0 0 DHX30 22907 broad.mit.edu 37 3 47859529 47859529 + Nonsense_Mutation SNP C C T TCGA-EM-A3O6-01A-11D-A21Z-08 TCGA-EM-A3O6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218ddc02-caab-436d-b47c-e4f07635203e e0b8abac-6f27-4ab9-9543-28c721de2bf1 g.chr3:47859529C>T ENST00000445061.1 + 4 453 c.46C>T c.(46-48)Cag>Tag p.Q16* DHX30_ENST00000446256.2_5'UTR|DHX30_ENST00000476446.1_3'UTR|DHX30_ENST00000348968.4_5'UTR NM_138615.2 NP_619520.1 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 30 16 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) ccagcacaggcagcgtcagtg 0.607000 56 218 0 0 1 0 0 PDGFRB 5159 broad.mit.edu 37 5 149500817 149500817 + Missense_Mutation SNP C C T TCGA-EM-A3O6-01A-11D-A21Z-08 TCGA-EM-A3O6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218ddc02-caab-436d-b47c-e4f07635203e e0b8abac-6f27-4ab9-9543-28c721de2bf1 g.chr5:149500817C>T ENST00000261799.4 - 17 2882 c.2413G>A c.(2413-2415)Ggc>Agc p.G805S NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 805 Protein kinase. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) TAGCTGAAGCCCACGAGGTCC 0.582000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 34 75 0 0 1 0 0 MARCH6 10299 broad.mit.edu 37 5 10390572 10390572 + Missense_Mutation SNP C C T TCGA-EM-A3O6-01A-11D-A21Z-08 TCGA-EM-A3O6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218ddc02-caab-436d-b47c-e4f07635203e e0b8abac-6f27-4ab9-9543-28c721de2bf1 g.chr5:10390572C>T ENST00000274140.5 + 6 668 c.536C>T c.(535-537)gCt>gTt p.A179V MARCH6_ENST00000503788.1_Missense_Mutation_p.A74V|MARCH6_ENST00000449913.2_Missense_Mutation_p.A131V NM_005885.2 NP_005876.2 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase 179 protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3) 54 TTGGAGCATGCTGCCCCACCG 0.488000 20 85 0 0 1 0 0 CCT6P3 0 broad.mit.edu 37 7 64532708 64532709 + RNA INS - - A TCGA-EM-A3O6-01A-11D-A21Z-08 TCGA-EM-A3O6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218ddc02-caab-436d-b47c-e4f07635203e e0b8abac-6f27-4ab9-9543-28c721de2bf1 g.chr7:64532708_64532709insA ENST00000426828.1 + 0 1228 NR_033416.1 AAATGGGGACCAAAAAAAAAAA 0.351 2 4 --- --- --- --- PMS2P3 0 broad.mit.edu 37 7 75145720 75145721 + RNA DEL AT AT - TCGA-EM-A3O6-01A-11D-A21Z-08 TCGA-EM-A3O6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218ddc02-caab-436d-b47c-e4f07635203e e0b8abac-6f27-4ab9-9543-28c721de2bf1 g.chr7:75145720_75145721delAT ENST00000418756.1 - 0 618 NR_028059.1 lung(1) 1 TCCTTTGGGGatatatatatat 0.302 2 4 --- --- --- --- RAB11FIP1 80223 broad.mit.edu 37 8 37728933 37728933 + Frame_Shift_Del DEL T T - TCGA-EM-A3O6-01A-11D-A21Z-08 TCGA-EM-A3O6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218ddc02-caab-436d-b47c-e4f07635203e e0b8abac-6f27-4ab9-9543-28c721de2bf1 g.chr8:37728933delT ENST00000330843.4 - 4 3399 c.3387delA c.(3385-3387)aafs p.K1129fs RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000522727.1_Intron NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 1129 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) CTGCTGTGGCTTTTTTTTGAG 0.542 OREG0018713 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 245 --- --- --- --- FNBP4 23360 broad.mit.edu 37 11 47788664 47788669 + In_Frame_Del DEL GGTGGT GGTGGT - rs59413596 TCGA-EM-A3O6-01A-11D-A21Z-08 TCGA-EM-A3O6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218ddc02-caab-436d-b47c-e4f07635203e e0b8abac-6f27-4ab9-9543-28c721de2bf1 g.chr11:47788664_47788669delGGTGGT ENST00000263773.5 - 1 184_189 c.172_177delACCACC c.(172-177)del p.TT58del FNBP4_ENST00000534003.1_5'UTR NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 58 p.T58_T59delTT(3) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 CAGTCACCGCGGTGGTGGTGGTCGTC 0.748 4 2 --- --- --- --- APAF1 317 broad.mit.edu 37 12 99121092 99121092 + Frame_Shift_Del DEL A A - TCGA-EM-A3O6-01A-11D-A21Z-08 TCGA-EM-A3O6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218ddc02-caab-436d-b47c-e4f07635203e e0b8abac-6f27-4ab9-9543-28c721de2bf1 g.chr12:99121092delA ENST00000357310.1 + 25 4046 c.3469delA c.(3469-3471)agfs p.K1157fs APAF1_ENST00000549007.1_Frame_Shift_Del_p.K1115fs|APAF1_ENST00000339433.3_Frame_Shift_Del_p.K1115fs|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000547045.1_Frame_Shift_Del_p.K1157fs|APAF1_ENST00000550527.1_Frame_Shift_Del_p.K1189fs|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000551964.1_Frame_Shift_Del_p.K1200fs|APAF1_ENST00000359972.2_Frame_Shift_Del_p.K1146fs NM_181868.1 NP_863658.1 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 1200 activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1) 42 Adenosine triphosphate(DB00171) AGGATATATTAAGGTAAGAGT 0.428 41 69 --- --- --- --- SALL3 27164 broad.mit.edu 37 18 76752542 76752543 + Frame_Shift_Del DEL GC GC - TCGA-EM-A3O6-01A-11D-A21Z-08 TCGA-EM-A3O6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 218ddc02-caab-436d-b47c-e4f07635203e e0b8abac-6f27-4ab9-9543-28c721de2bf1 g.chr18:76752542_76752543delGC ENST00000536229.3 + 1 861_862 c.152_153delGC c.(151-153)gfs p.G51fs SALL3_ENST00000537592.2_Frame_Shift_Del_p.G184fs|SALL3_ENST00000575389.2_Frame_Shift_Del_p.G184fs Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 184 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G184G(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) TTCTCGCAGGGCGCGCGCGCGG 0.728 4 2 --- --- --- ---