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 SLC15A3 51296 broad.mit.edu 37 11 60714262 60714262 + Missense_Mutation SNP C C A rs142952480 byFrequency TCGA-E8-A414-01A-11D-A23M-08 TCGA-E8-A414-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dd3d5c-8dbe-4adc-aa69-92fb7555b60b ef1cce9d-bdc5-4303-9def-d252d105a958 g.chr11:60714262C>A ENST00000227880.3 - 2 823 c.590G>T c.(589-591)cGc>cTc p.R197L NM_016582.2 NP_057666.1 Q8IY34 S15A3_HUMAN solute carrier family 15 (oligopeptide transporter), member 3 197 oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity p.R197L(1) central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2) 17 GTTGAAGAAGCGGCGGGTGGC 0.597000 4 203 0.184627 0.184627 1 1 0 APOL5 80831 broad.mit.edu 37 22 36122619 36122619 + Missense_Mutation SNP G G A TCGA-E8-A414-01A-11D-A23M-08 TCGA-E8-A414-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dd3d5c-8dbe-4adc-aa69-92fb7555b60b ef1cce9d-bdc5-4303-9def-d252d105a958 g.chr22:36122619G>A ENST00000249044.2 + 3 504 c.504G>A c.(502-504)atG>atA p.M168I NM_030642.1 NP_085145.1 Q9BWW9 APOL5_HUMAN apolipoprotein L, 5 168 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1) 19 GCAGTCTCATGCTCTCAGCAA 0.537000 19 71 0 0 1 0 0 DOCK2 1794 broad.mit.edu 37 5 169108863 169108863 + Missense_Mutation SNP G G C TCGA-E8-A414-01A-11D-A23M-08 TCGA-E8-A414-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dd3d5c-8dbe-4adc-aa69-92fb7555b60b ef1cce9d-bdc5-4303-9def-d252d105a958 g.chr5:169108863G>C ENST00000256935.8 + 7 666 c.586G>C c.(586-588)Gag>Cag p.E196Q NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 196 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TAAAATCACAGAGCGTATCAA 0.373000 6 111 0 0 1 0 0 C16orf87 388272 broad.mit.edu 37 16 46843541 46843541 + Missense_Mutation SNP G G C TCGA-E8-A414-01A-11D-A23M-08 TCGA-E8-A414-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dd3d5c-8dbe-4adc-aa69-92fb7555b60b ef1cce9d-bdc5-4303-9def-d252d105a958 g.chr16:46843541G>C ENST00000285697.4 - 3 581 c.320C>G c.(319-321)tCt>tGt p.S107C C16orf87_ENST00000564250.1_5'UTR|C16orf87_ENST00000394806.2_Intron NM_001001436.2 NP_001001436.1 Q6PH81 CP087_HUMAN chromosome 16 open reading frame 87 107 large_intestine(4)|urinary_tract(1) 5 TTTTTTGGCAGATGCACTTTT 0.338000 4 169 0 0 1 0 0 D86994.2 0 broad.mit.edu 37 22 23006961 23006961 + RNA SNP C C T TCGA-E8-A414-01A-11D-A23M-08 TCGA-E8-A414-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dd3d5c-8dbe-4adc-aa69-92fb7555b60b ef1cce9d-bdc5-4303-9def-d252d105a958 g.chr22:23006961C>T ENST00000385099.1 + 0 64 GGCTCTGCTCCTCCTCACCCT 0.627000 4 9 0 0 1 0 0 PIK3CD 5293 broad.mit.edu 37 1 9777593 9777593 + Splice_Site SNP A A G TCGA-E8-A414-01A-11D-A23M-08 TCGA-E8-A414-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dd3d5c-8dbe-4adc-aa69-92fb7555b60b ef1cce9d-bdc5-4303-9def-d252d105a958 g.chr1:9777593A>G ENST00000536656.1 + 8 1033 c.e8-1 PIK3CD_ENST00000361110.2_Splice_Site|PIK3CD_ENST00000377346.4_Splice_Site O00329 PK3CD_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta phosphatidylinositol-mediated signaling|protein phosphorylation phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 all_lung(157;0.222) all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419) CCCGGCCCCCAGCCTTCCTCT 0.647000 11 39 0 0 1 0 0 EML4 27436 broad.mit.edu 37 2 42510053 42510053 + Silent SNP A A G TCGA-E8-A414-01A-11D-A23M-08 TCGA-E8-A414-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dd3d5c-8dbe-4adc-aa69-92fb7555b60b ef1cce9d-bdc5-4303-9def-d252d105a958 g.chr2:42510053A>G ENST00000318522.5 + 8 1144 c.882A>G c.(880-882)ctA>ctG p.L294L EML4_ENST00000402711.2_Silent_p.L236L|EML4_ENST00000401738.3_Silent_p.L305L NM_019063.3 NP_061936.2 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 294 microtubule-based process|mitosis cytoplasm|microtubule protein binding EML4/ALK(543) NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 12 TAGTAGTACTATTTAATTATG 0.378000 T ALK NSCLC 5 79 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-E8-A414-01A-11D-A23M-08 TCGA-E8-A414-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dd3d5c-8dbe-4adc-aa69-92fb7555b60b ef1cce9d-bdc5-4303-9def-d252d105a958 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 7 46 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162462 90162462 + RNA SNP A A G TCGA-E8-A414-01A-11D-A23M-08 TCGA-E8-A414-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dd3d5c-8dbe-4adc-aa69-92fb7555b60b ef1cce9d-bdc5-4303-9def-d252d105a958 g.chr16:90162462A>G ENST00000567960.1 + 0 1198 TUBB8P7_ENST00000564451.1_RNA p.T398T(1) ACTGGTACACAGGCGAGGGCA 0.522000 4 100 0 0 1 0 0 DDX23 9416 broad.mit.edu 37 12 49229903 49229903 + Splice_Site SNP C C T TCGA-E8-A414-01A-11D-A23M-08 TCGA-E8-A414-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dd3d5c-8dbe-4adc-aa69-92fb7555b60b ef1cce9d-bdc5-4303-9def-d252d105a958 g.chr12:49229903C>T ENST00000308025.3 - 11 1462 c.e11+1 NM_004818.2 NP_004809.2 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3) 36 GCTGACCTCACCTGTCAATTT 0.483000 49 169 0 0 1 0 0 STXBP5 0 broad.mit.edu 37 6 147685192 147685192 + Missense_Mutation SNP C C T TCGA-E8-A414-01A-11D-A23M-08 TCGA-E8-A414-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dd3d5c-8dbe-4adc-aa69-92fb7555b60b ef1cce9d-bdc5-4303-9def-d252d105a958 g.chr6:147685192C>T ENST00000367481.3 + 23 2971 c.2863C>T c.(2863-2865)Cgg>Tgg p.R955W STXBP5_ENST00000321680.6_Missense_Mutation_p.R991W|STXBP5_ENST00000179882.6_Missense_Mutation_p.R646W|STXBP5_ENST00000367480.3_Missense_Mutation_p.R938W NM_139244.4 NP_640337.3 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) 991 exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding p.R955W(1)|p.R991W(1) breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 42 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) TACCAATATGCGGATAGCCAG 0.363000 6 184 0 0 1 0 0 RTBDN 83546 broad.mit.edu 37 19 12940686 12940686 + Silent SNP G G T rs149960614 TCGA-E8-A414-01A-11D-A23M-08 TCGA-E8-A414-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dd3d5c-8dbe-4adc-aa69-92fb7555b60b ef1cce9d-bdc5-4303-9def-d252d105a958 g.chr19:12940686G>T ENST00000589272.1 - 3 533 c.204C>A c.(202-204)gcC>gcA p.A68A CTD-2265O21.3_ENST00000588469.1_RNA|RTBDN_ENST00000592204.1_Silent_p.A46A|RTBDN_ENST00000458671.2_Silent_p.A36A|RTBDN_ENST00000322912.5_Silent_p.A68A|RTBDN_ENST00000393233.2_5'UTR Q9BSG5 RTBDN_HUMAN retbindin 36 extracellular region kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1) 12 GCTGGGACCTGGCTTGGAGTG 0.637000 9 32 2.74318e-10 3.06591e-10 1 1 0 SPTA1 6708 broad.mit.edu 37 1 158615133 158615133 + Missense_Mutation SNP C C T TCGA-E8-A414-01A-11D-A23M-08 TCGA-E8-A414-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dd3d5c-8dbe-4adc-aa69-92fb7555b60b ef1cce9d-bdc5-4303-9def-d252d105a958 g.chr1:158615133C>T ENST00000368148.3 - 29 4219 c.4039G>A c.(4039-4041)Gcc>Acc p.A1347T SPTA1_ENST00000368147.3_Missense_Mutation_p.A1347T NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1347 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCCTCTAAGGCCTGGAAGGTG 0.473000 18 40 0 0 1 0 0 AJ271736.10 0 broad.mit.edu 37 X 155252868 155252868 + RNA SNP T T A TCGA-E8-A414-01A-11D-A23M-08 TCGA-E8-A414-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dd3d5c-8dbe-4adc-aa69-92fb7555b60b ef1cce9d-bdc5-4303-9def-d252d105a958 g.chrX:155252868T>A ENST00000285718.7 + 0 819 WASH6P_ENST00000461007.1_RNA p.P304P(5) TAGCCGAGCCTCTCAAGGCAG 0.632000 5 9 0 0 1 0 0 D86994.2 0 broad.mit.edu 37 22 23006960 23006960 + RNA SNP C C A TCGA-E8-A414-01A-11D-A23M-08 TCGA-E8-A414-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dd3d5c-8dbe-4adc-aa69-92fb7555b60b ef1cce9d-bdc5-4303-9def-d252d105a958 g.chr22:23006960C>A ENST00000385099.1 + 0 63 GGGCTCTGCTCCTCCTCACCC 0.627000 4 9 0.00909568 0.009601 1 1 0 ANKRD13D 338692 broad.mit.edu 37 11 67059566 67059566 + Missense_Mutation SNP C C T TCGA-E8-A414-01A-11D-A23M-08 TCGA-E8-A414-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dd3d5c-8dbe-4adc-aa69-92fb7555b60b ef1cce9d-bdc5-4303-9def-d252d105a958 g.chr11:67059566C>T ENST00000447274.2 + 6 1560 c.385C>T c.(385-387)Cgg>Tgg p.R129W ANKRD13D_ENST00000514166.1_Missense_Mutation_p.R129W|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.R129W|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.R216W Q6ZTN6 AN13D_HUMAN ankyrin repeat domain 13 family, member D 129 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1) 9 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GGCCGCCATGCGGCCCAGCGA 0.632000 4 108 0 0 1 0 0 AC018890.6 0 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-E8-A414-01A-11D-A23M-08 TCGA-E8-A414-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dd3d5c-8dbe-4adc-aa69-92fb7555b60b ef1cce9d-bdc5-4303-9def-d252d105a958 g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- DGKB 1607 broad.mit.edu 37 7 14652983 14652983 + Frame_Shift_Del DEL C C - TCGA-E8-A414-01A-11D-A23M-08 TCGA-E8-A414-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dd3d5c-8dbe-4adc-aa69-92fb7555b60b ef1cce9d-bdc5-4303-9def-d252d105a958 g.chr7:14652983delC ENST00000403951.2 - 16 1762 c.1343delG c.(1342-1344)gtfs p.G449fs DGKB_ENST00000407950.1_Frame_Shift_Del_p.G441fs|DGKB_ENST00000406247.3_Frame_Shift_Del_p.G449fs|DGKB_ENST00000399322.3_Frame_Shift_Del_p.G449fs|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Frame_Shift_Del_p.G448fs|DGKB_ENST00000258767.5_Frame_Shift_Del_p.G449fs|DGKB_ENST00000444700.2_Frame_Shift_Del_p.G430fs Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 449 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) TTGTTTTCCACCACTTTTGGG 0.318 2 4 --- --- --- --- RP11-274B21.1 0 broad.mit.edu 37 7 128210235 128210235 + RNA DEL T T - TCGA-E8-A414-01A-11D-A23M-08 TCGA-E8-A414-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dd3d5c-8dbe-4adc-aa69-92fb7555b60b ef1cce9d-bdc5-4303-9def-d252d105a958 g.chr7:128210235delT ENST00000605862.1 + 0 189 gttttagttcttTTTTTTTTT 0.443 3 6 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132547093 132547094 + In_Frame_Ins INS - - CAG rs113304321 by1000genomes TCGA-E8-A414-01A-11D-A23M-08 TCGA-E8-A414-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dd3d5c-8dbe-4adc-aa69-92fb7555b60b ef1cce9d-bdc5-4303-9def-d252d105a958 g.chr12:132547093_132547094insCAG ENST00000333577.4 + 48 8398_8399 c.8289_8290insCAG c.(8287-8292)caagca>caCAGagca p.2763_2763Q>HR EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR|EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagca 0.564 19 39 --- --- --- --- LSM14A 26065 broad.mit.edu 37 19 34710340 34710340 + Frame_Shift_Del DEL C C - TCGA-E8-A414-01A-11D-A23M-08 TCGA-E8-A414-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25dd3d5c-8dbe-4adc-aa69-92fb7555b60b ef1cce9d-bdc5-4303-9def-d252d105a958 g.chr19:34710340delC ENST00000544216.3 + 7 903 c.826delC c.(826-828)ggfs p.R276fs LSM14A_ENST00000540746.2_Frame_Shift_Del_p.R235fs|LSM14A_ENST00000433627.5_Frame_Shift_Del_p.R276fs NM_015578.2 NP_056393.2 Q8ND56 LS14A_HUMAN LSM14A, SCD6 homolog A (S. cerevisiae) 276 cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1) 22 Esophageal squamous(110;0.162) TGGGGGTCATCGGGGTGGCAG 0.438 7 130 --- --- --- ---