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 RASA4B 100271927 broad.mit.edu 37 7 102136604 102136604 + Missense_Mutation SNP C C T rs746316 TCGA-EL-A4JZ-01A-11D-A257-08 TCGA-EL-A4JZ-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1a52c0e-568c-48d0-88ea-51ff51ffe3e3 e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87 g.chr7:102136604C>T ENST00000481893.1 - 16 1962 c.838G>A c.(838-840)Gtg>Atg p.V280M RASA4B_ENST00000465829.1_Missense_Mutation_p.V352M|RASA4B_ENST00000306682.6_Missense_Mutation_p.V280M|RASA4B_ENST00000541662.1_Missense_Mutation_p.V352M RAS p21 protein activator 4B p.V352M(1) skin(1) 1 AAAGACTCCACGGACTTTGAG 0.542000 3 46 0 0 1 0 0 AKT2 208 broad.mit.edu 37 19 40762959 40762959 + Missense_Mutation SNP C C T TCGA-EL-A4JZ-01A-11D-A257-08 TCGA-EL-A4JZ-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1a52c0e-568c-48d0-88ea-51ff51ffe3e3 e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87 g.chr19:40762959C>T ENST00000392038.2 - 3 347 c.49G>A c.(49-51)Gaa>Aaa p.E17K AKT2_ENST00000579047.1_5'UTR|AKT2_ENST00000424901.1_Missense_Mutation_p.E17K|AKT2_ENST00000311278.6_Missense_Mutation_p.E17K NM_001243027.1|NM_001243028.1|NM_001626.4 NP_001229956.1|NP_001229957.1|NP_001617.1 P31751 AKT2_HUMAN v-akt murine thymoma viral oncogene homolog 2 17 PH. insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity p.E17K(1) breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1) 27 Lung(22;0.000499) TTGATGTATTCACCTGAAATG 0.577000 A """ovarian, pancreatic """ 12 39 0 0 1 0 0 KRTAP5-6 440023 broad.mit.edu 37 11 1718519 1718519 + Missense_Mutation SNP G G C TCGA-EL-A4JZ-01A-11D-A257-08 TCGA-EL-A4JZ-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1a52c0e-568c-48d0-88ea-51ff51ffe3e3 e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87 g.chr11:1718519G>C ENST00000382160.1 + 1 95 c.44G>C c.(43-45)gGg>gCg p.G15A NM_001012416.1 NP_001012416.1 Q6L8G9 KRA56_HUMAN keratin associated protein 5-6 15 keratin filament endometrium(1)|large_intestine(2)|lung(6)|skin(1) 10 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) TCCGGCTGTGGGGGCTGTGGC 0.652000 40 99 0 0 1 0 0 CLIC2 1193 broad.mit.edu 37 X 154508527 154508527 + Nonsense_Mutation SNP C C A TCGA-EL-A4JZ-01A-11D-A257-08 TCGA-EL-A4JZ-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1a52c0e-568c-48d0-88ea-51ff51ffe3e3 e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87 g.chrX:154508527C>A ENST00000369449.2 - 5 711 c.493G>T c.(493-495)Gaa>Taa p.E165* CLIC2_ENST00000465553.1_5'UTR NM_001289.4 NP_001280.3 O15247 CLIC2_HUMAN chloride intracellular channel 2 165 C-terminal.|Foot loop.|GST C-terminal. signal transduction chloride channel complex|cytoplasm|nucleus voltage-gated chloride channel activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1) 18 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) ACTGGGGGTTCCTCAGCACTG 0.423000 21 42 8.34094e-07 8.34094e-07 1 1 0 WRAP53 55135 broad.mit.edu 37 17 7592188 7592188 + Silent SNP T T C TCGA-EL-A4JZ-01A-11D-A257-08 TCGA-EL-A4JZ-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1a52c0e-568c-48d0-88ea-51ff51ffe3e3 e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87 g.chr17:7592188T>C ENST00000316024.5 + 1 2570 c.222T>C c.(220-222)tcT>tcC p.S74S WRAP53_ENST00000396463.2_Silent_p.S74S|WRAP53_ENST00000457584.2_Silent_p.S74S|WRAP53_ENST00000534050.1_Silent_p.S74S|WRAP53_ENST00000431639.2_Silent_p.S74S Q9BUR4 WAP53_HUMAN WD repeat containing, antisense to TP53 74 positive regulation of telomerase activity|telomere formation via telomerase Cajal body|cytoplasm|telomerase holoenzyme complex protein binding|RNA binding endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2) 18 ACCCAGTTTCTCTCTCCACTC 0.582000 29 59 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106976772 106976772 + Missense_Mutation SNP G G A TCGA-EL-A4JZ-01A-11D-A257-08 TCGA-EL-A4JZ-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1a52c0e-568c-48d0-88ea-51ff51ffe3e3 e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87 g.chr10:106976772G>A ENST00000369701.3 + 19 2853 c.2626G>A c.(2626-2628)Gag>Aag p.E876K SORCS3_ENST00000369699.4_Missense_Mutation_p.E162K NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 876 PKD. integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CAGCCCCATCGAGGACGGCAT 0.527000 11 29 0 0 1 0 0 MST1L 0 broad.mit.edu 37 1 17083837 17083837 + RNA SNP T T C rs7798 by1000genomes TCGA-EL-A4JZ-01A-11D-A257-08 TCGA-EL-A4JZ-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1a52c0e-568c-48d0-88ea-51ff51ffe3e3 e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87 g.chr1:17083837T>C ENST00000455405.2 - 0 751 CTAATTCCTTTCAGGACCCAG 0.572000 3 17 0 0 1 0 0 ZNF549 256051 broad.mit.edu 37 19 58049389 58049389 + Silent SNP A A G TCGA-EL-A4JZ-01A-11D-A257-08 TCGA-EL-A4JZ-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1a52c0e-568c-48d0-88ea-51ff51ffe3e3 e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87 g.chr19:58049389A>G ENST00000376233.3 + 4 1198 c.1017A>G c.(1015-1017)aaA>aaG p.K339K ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Silent_p.K326K|ZNF549_ENST00000594943.1_Intron NM_001199295.1 NP_001186224.1 Q6P9A3 ZN549_HUMAN zinc finger protein 549 339 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 21 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;0.026) TATGTGGGAAATCATTCCGCC 0.428000 21 45 0 0 1 0 0 LRRTM3 347731 broad.mit.edu 37 10 68687364 68687364 + Silent SNP C C T TCGA-EL-A4JZ-01A-11D-A257-08 TCGA-EL-A4JZ-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1a52c0e-568c-48d0-88ea-51ff51ffe3e3 e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87 g.chr10:68687364C>T ENST00000361320.4 + 2 1268 c.690C>T c.(688-690)agC>agT p.S230S CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron NM_178011.3 NP_821079.3 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 230 integral to membrane breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 GGTTGGTCAGCCTTCAGAACC 0.458000 28 52 0 0 1 0 0 DCLRE1B 64858 broad.mit.edu 37 1 114454228 114454228 + Nonsense_Mutation SNP G G A TCGA-EL-A4JZ-01A-11D-A257-08 TCGA-EL-A4JZ-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1a52c0e-568c-48d0-88ea-51ff51ffe3e3 e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87 g.chr1:114454228G>A ENST00000369563.3 + 4 1460 c.1014G>A c.(1012-1014)tgG>tgA p.W338* DCLRE1B_ENST00000466480.1_3'UTR NM_022836.3 NP_073747.1 Q9H816 DCR1B_HUMAN DNA cross-link repair 1B 338 cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation centrosome|chromosome, telomeric region|nucleus 5'-3' exonuclease activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1) 18 Lung SC(450;0.184) all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GCCTTCTCTGGCTGTTAGAAA 0.498000 Other identified genes with known or suspected DNA repair function 20 45 0 0 1 0 0 ERAP2 64167 broad.mit.edu 37 5 96215823 96215823 + Missense_Mutation SNP A A G TCGA-EL-A4JZ-01A-11D-A257-08 TCGA-EL-A4JZ-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1a52c0e-568c-48d0-88ea-51ff51ffe3e3 e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87 g.chr5:96215823A>G ENST00000437043.3 + 2 1145 c.434A>G c.(433-435)cAt>cGt p.H145R CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000510309.1_Missense_Mutation_p.H145R|ERAP2_ENST00000379904.4_Missense_Mutation_p.H145R NM_001130140.1|NM_022350.3 NP_001123612.1|NP_071745.1 Q6P179 ERAP2_HUMAN endoplasmic reticulum aminopeptidase 2 145 antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) TACCCTGCTCATGAACAAATT 0.433000 9 23 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A4JZ-01A-11D-A257-08 TCGA-EL-A4JZ-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1a52c0e-568c-48d0-88ea-51ff51ffe3e3 e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 19 42 0 0 1 0 0 PREX1 57580 broad.mit.edu 37 20 47256389 47256389 + Silent SNP C C T TCGA-EL-A4JZ-01A-11D-A257-08 TCGA-EL-A4JZ-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1a52c0e-568c-48d0-88ea-51ff51ffe3e3 e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87 g.chr20:47256389C>T ENST00000396220.1 - 30 3841 c.3819G>A c.(3817-3819)ctG>ctA p.L1273L PREX1_ENST00000371941.3_Silent_p.L1273L Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 1273 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) TAATCTGGATCAGGCTCCGGC 0.552000 6 105 0 0 1 0 0 TGFB2 7042 broad.mit.edu 37 1 218610805 218610805 + Silent SNP G G C rs142741166 by1000genomes TCGA-EL-A4JZ-01A-11D-A257-08 TCGA-EL-A4JZ-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1a52c0e-568c-48d0-88ea-51ff51ffe3e3 e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87 g.chr1:218610805G>C ENST00000366929.4 + 7 1604 c.1137G>C c.(1135-1137)ccG>ccC p.P379P TGFB2_ENST00000366930.4_Silent_p.P351P|TGFB2_ENST00000479322.1_3'UTR NM_001135599.2 NP_001129071.1 P61812 TGFB2_HUMAN transforming growth factor, beta 2 351 activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776) GAGCATGCCCGTATTTATGGA 0.483000 4 31 0 0 1 0 0 TAF1B 9014 broad.mit.edu 37 2 9989571 9989571 + Frame_Shift_Del DEL A A - TCGA-EL-A4JZ-01A-11D-A257-08 TCGA-EL-A4JZ-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1a52c0e-568c-48d0-88ea-51ff51ffe3e3 e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87 g.chr2:9989571delA ENST00000263663.5 + 3 375 c.187delA c.(187-189)aafs p.K65fs TAF1B_ENST00000396242.3_5'UTR|TAF1B_ENST00000402170.1_3'UTR NM_005680.2 NP_005671.2 Q53T94 TAF1B_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa 65 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CCGGGGGCTTAAAAAAAAAAA 0.333 2 4 --- --- --- --- STAG3L2 0 broad.mit.edu 37 7 74300557 74300564 + RNA DEL AGAGCTCC AGAGCTCC - TCGA-EL-A4JZ-01A-11D-A257-08 TCGA-EL-A4JZ-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1a52c0e-568c-48d0-88ea-51ff51ffe3e3 e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87 g.chr7:74300557_74300564delAGAGCTCC ENST00000423186.1 - 0 573_580 P0CL84 ST3L2_HUMAN nucleus binding p.E82fs*32(2) breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1) 5 CGGCCAGTGAAGAGCTCCAGGCGTGCGG 0.572 3 4 --- --- --- --- TPTE2P6 0 broad.mit.edu 37 13 25157747 25157748 + RNA INS - - T rs144668552 by1000genomes TCGA-EL-A4JZ-01A-11D-A257-08 TCGA-EL-A4JZ-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1a52c0e-568c-48d0-88ea-51ff51ffe3e3 e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87 g.chr13:25157747_25157748insT ENST00000453498.1 + 0 554 AAAATGGGAGGTTTTTTTAGGG 0.411 3 3 --- --- --- --- INO80E 283899 broad.mit.edu 37 16 30007664 30007665 + Frame_Shift_Ins INS - - A rs34220380 TCGA-EL-A4JZ-01A-11D-A257-08 TCGA-EL-A4JZ-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1a52c0e-568c-48d0-88ea-51ff51ffe3e3 e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87 g.chr16:30007664_30007665insA ENST00000563197.1 + 1 1050_1051 c.33_34insA c.(31-36)taaaaafs p.*K11fs INO80E_ENST00000563040.1_3'UTR|INO80E_ENST00000567705.1_Frame_Shift_Ins_p.*K11fs|INO80E_ENST00000304516.7_Frame_Shift_Ins_p.*K11fs|HIRIP3_ENST00000279392.3_5'UTR|INO80E_ENST00000567254.1_Frame_Shift_Ins_p.*K11fs NM_173618.1 NP_775889.1 Q8NBZ0 IN80E_HUMAN INO80 complex subunit E 11 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1) 6 AAGTGGACTACAAAAAAAAATA 0.634 3 6 --- --- --- --- NCAM2 4685 broad.mit.edu 37 21 22849723 22849723 + Frame_Shift_Del DEL A A - TCGA-EL-A4JZ-01A-11D-A257-08 TCGA-EL-A4JZ-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1a52c0e-568c-48d0-88ea-51ff51ffe3e3 e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87 g.chr21:22849723delA ENST00000400546.1 + 15 2257 c.2008delA c.(2008-2010)atfs p.N670fs NCAM2_ENST00000284894.7_Frame_Shift_Del_p.N528fs NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 670 Fibronectin type-III 2. neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) TACAGCTGCCAATAGATTGGG 0.388 14 31 --- --- --- ---