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 HS6ST1 9394 broad.mit.edu 37 2 129026421 129026421 + Missense_Mutation SNP A A G TCGA-EM-A22L-01A-11D-A17V-08 TCGA-EM-A22L-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d97ee252-2e59-49f9-bcdb-486493788808 4c38ef42-92bd-4077-a3b6-0d736fec72be g.chr2:129026421A>G ENST00000259241.6 - 2 564 c.551T>C c.(550-552)cTa>cCa p.L184P NM_004807.2 NP_004798.3 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 184 heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) GGGGTCTCGTAGCAGGGTGAT 0.622000 3 52 0 0 0.004482 0 0 GPR87 0 broad.mit.edu 37 3 151012084 151012084 + Missense_Mutation SNP A A G TCGA-EM-A22L-01A-11D-A17V-08 TCGA-EM-A22L-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d97ee252-2e59-49f9-bcdb-486493788808 4c38ef42-92bd-4077-a3b6-0d736fec72be g.chr3:151012084A>G ENST00000260843.4 - 3 1414 c.950T>C c.(949-951)aTg>aCg p.M317T MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron NM_023915.3 NP_076404.3 Q9BY21 GPR87_HUMAN G protein-coupled receptor 87 317 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 19 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TGACCTACACATGAAAAAGTA 0.358000 53 58 0 0 0.003610 0 0 NBPF14 25832 broad.mit.edu 37 1 148012531 148012531 + Silent SNP C C T TCGA-EM-A22L-01A-11D-A17V-08 TCGA-EM-A22L-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d97ee252-2e59-49f9-bcdb-486493788808 4c38ef42-92bd-4077-a3b6-0d736fec72be g.chr1:148012531C>T ENST00000369219.1 - 12 1444 c.1428G>A c.(1426-1428)aaG>aaA p.K476K Q5TI25 NBPFE_HUMAN neuroblastoma breakpoint family, member 14 476 NBPF 5. cytoplasm p.K476K(2)|p.K476N(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 42 all_hematologic(923;0.032) AGCCAACATGCTTTTCCTCCA 0.443000 4 20 0 0 0.000602 0 0 VWF 7450 broad.mit.edu 37 12 6105204 6105204 + Missense_Mutation SNP G G T TCGA-EM-A22L-01A-11D-A17V-08 TCGA-EM-A22L-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d97ee252-2e59-49f9-bcdb-486493788808 4c38ef42-92bd-4077-a3b6-0d736fec72be g.chr12:6105204G>T ENST00000261405.5 - 35 6281 c.6027C>A c.(6025-6027)caC>caA p.H2009Q NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 2009 VWFD 4. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) AGAGGGCACTGTGCTTCACCT 0.522000 19 26 6.94344e-10 1.19352e-08 0.006122 1 0 NRAS 4893 broad.mit.edu 37 1 115256530 115256530 + Missense_Mutation SNP G G T rs121913254 TCGA-EM-A22L-01A-11D-A17V-08 TCGA-EM-A22L-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d97ee252-2e59-49f9-bcdb-486493788808 4c38ef42-92bd-4077-a3b6-0d736fec72be g.chr1:115256530G>T ENST00000369535.4 - 3 434 c.181C>A c.(181-183)Caa>Aaa p.Q61K NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TACTCTTCTTGTCCAGCTGTA 0.458000 Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 64 106 5.73332e-34 1.01289e-32 0.003610 1 0 PROS1 5627 broad.mit.edu 37 3 93624630 93624630 + Missense_Mutation SNP T T A TCGA-EM-A22L-01A-11D-A17V-08 TCGA-EM-A22L-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d97ee252-2e59-49f9-bcdb-486493788808 4c38ef42-92bd-4077-a3b6-0d736fec72be g.chr3:93624630T>A ENST00000394236.3 - 6 915 c.599A>T c.(598-600)aAa>aTa p.K200I PROS1_ENST00000407433.1_Missense_Mutation_p.K69I NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) 200 EGF-like 2; calcium-binding (Potential). leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) GCTCTTACCTTTACAATCTTT 0.303000 18 32 0 0 0.006122 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78212618 78212618 + RNA SNP A A G TCGA-EM-A22L-01A-11D-A17V-08 TCGA-EM-A22L-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d97ee252-2e59-49f9-bcdb-486493788808 4c38ef42-92bd-4077-a3b6-0d736fec72be g.chr15:78212618A>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TGTAACCGCCACTGGAGGACC 0.562000 3 62 0 0 0.000248 0 0 FRG1B 0 broad.mit.edu 37 20 29625875 29625875 + Missense_Mutation SNP T T C rs143761036 by1000genomes TCGA-EM-A22L-01A-11D-A17V-08 TCGA-EM-A22L-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d97ee252-2e59-49f9-bcdb-486493788808 4c38ef42-92bd-4077-a3b6-0d736fec72be g.chr20:29625875T>C ENST00000278882.3 + 5 499 c.119T>C c.(118-120)aTc>aCc p.I40T FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T p.I40T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGTACAGAATCGCCCTGAAA 0.358000 6 92 0 0 0.000978 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-EM-A22L-01A-11D-A17V-08 TCGA-EM-A22L-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d97ee252-2e59-49f9-bcdb-486493788808 4c38ef42-92bd-4077-a3b6-0d736fec72be g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 3 70 0 0 0.004672 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22663087 22663087 + RNA SNP A A G rs1054158 TCGA-EM-A22L-01A-11D-A17V-08 TCGA-EM-A22L-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d97ee252-2e59-49f9-bcdb-486493788808 4c38ef42-92bd-4077-a3b6-0d736fec72be g.chr22:22663087A>G ENST00000426066.1 + 0 526 NR_027293.1 GCTGCCACATAAGTTGTCCTT 0.303000 2 9 0 0 0.000248 0 0 SCEL 8796 broad.mit.edu 37 13 78176241 78176241 + Missense_Mutation SNP C C G TCGA-EM-A22L-01A-11D-A17V-08 TCGA-EM-A22L-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d97ee252-2e59-49f9-bcdb-486493788808 4c38ef42-92bd-4077-a3b6-0d736fec72be g.chr13:78176241C>G ENST00000535157.1 + 15 1063 c.893C>G c.(892-894)aCt>aGt p.T298S SCEL-AS1_ENST00000456280.2_RNA|SCEL_ENST00000377246.3_Missense_Mutation_p.T300S|SCEL_ENST00000349847.3_Missense_Mutation_p.T320S|SCEL_ENST00000469982.1_3'UTR|SCEL-AS1_ENST00000457528.2_RNA NM_001160706.1 NP_001154178.1 O95171 SCEL_HUMAN sciellin 320 16 X approximate tandem repeats. embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) AATCAAAGGACTGACAAAAAT 0.393000 7 29 0 0 0.003080 0 0 HMCN1 83872 broad.mit.edu 37 1 186122946 186122946 + Missense_Mutation SNP T T C TCGA-EM-A22L-01A-11D-A17V-08 TCGA-EM-A22L-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d97ee252-2e59-49f9-bcdb-486493788808 4c38ef42-92bd-4077-a3b6-0d736fec72be g.chr1:186122946T>C ENST00000271588.4 + 97 15312 c.15083T>C c.(15082-15084)tTc>tCc p.F5028S HMCN1_ENST00000367492.2_Missense_Mutation_p.F5028S NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 5028 Nidogen G2 beta-barrel. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 ACCCGGCTGTTCACCATTGAT 0.463000 17 35 0 0 0.004007 0 0 AC024560.3 0 broad.mit.edu 37 3 197348739 197348739 + RNA SNP G G C TCGA-EM-A22L-01A-11D-A17V-08 TCGA-EM-A22L-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d97ee252-2e59-49f9-bcdb-486493788808 4c38ef42-92bd-4077-a3b6-0d736fec72be g.chr3:197348739G>C ENST00000418868.1 - 0 520 NR_003266.2 TAATTTTCTAGCTGTGAAAGA 0.398000 3 125 0 0 0.001984 0 0 LINC00264 0 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-EM-A22L-01A-11D-A17V-08 TCGA-EM-A22L-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d97ee252-2e59-49f9-bcdb-486493788808 4c38ef42-92bd-4077-a3b6-0d736fec72be g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 6 65 0 0 0.001168 0 0 WASH3P 0 broad.mit.edu 37 15 102516473 102516473 + RNA SNP G G A TCGA-EM-A22L-01A-11D-A17V-08 TCGA-EM-A22L-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d97ee252-2e59-49f9-bcdb-486493788808 4c38ef42-92bd-4077-a3b6-0d736fec72be g.chr15:102516473G>A ENST00000557932.1 + 0 1421 central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 ATCCTAGGGGGCTCCATGACA 0.642000 7 60 0 0 0.006214 0 0 OR5T2 219464 broad.mit.edu 37 11 56000018 56000018 + Missense_Mutation SNP C C T TCGA-EM-A22L-01A-11D-A17V-08 TCGA-EM-A22L-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d97ee252-2e59-49f9-bcdb-486493788808 4c38ef42-92bd-4077-a3b6-0d736fec72be g.chr11:56000018C>T ENST00000313264.4 - 1 719 c.644G>A c.(643-645)cGt>cAt p.R215H NM_001004746.1 NP_001004746.1 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, member 2 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) ACAAAAGACACGCCTAATTTC 0.433000 7 112 0 0 0.001984 0 0 ARID1B 57492 broad.mit.edu 37 6 157527496 157527496 + Missense_Mutation SNP G G A TCGA-EM-A22L-01A-11D-A17V-08 TCGA-EM-A22L-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d97ee252-2e59-49f9-bcdb-486493788808 4c38ef42-92bd-4077-a3b6-0d736fec72be g.chr6:157527496G>A ENST00000346085.5 + 20 5222 c.5221G>A c.(5221-5223)Gac>Aac p.D1741N ARID1B_ENST00000367148.1_Missense_Mutation_p.D1781N|ARID1B_ENST00000350026.5_Missense_Mutation_p.D1728N|ARID1B_ENST00000275248.4_Missense_Mutation_p.D1723N NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1728 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) TATTGATGACGACGAGGAAGA 0.537000 7 181 0 0 0.001984 0 0 AMZ2P1 0 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-EM-A22L-01A-11D-A17V-08 TCGA-EM-A22L-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d97ee252-2e59-49f9-bcdb-486493788808 4c38ef42-92bd-4077-a3b6-0d736fec72be g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 7 165 0 0 0.001984 0 0 SDHAP1 0 broad.mit.edu 37 3 195711423 195711423 + RNA SNP A A G TCGA-EM-A22L-01A-11D-A17V-08 TCGA-EM-A22L-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d97ee252-2e59-49f9-bcdb-486493788808 4c38ef42-92bd-4077-a3b6-0d736fec72be g.chr3:195711423A>G ENST00000427841.1 - 0 524 NR_003264.2 CTCTTGTACTAGAAACAGACC 0.552000 4 38 0 0 0.000248 0 0 STAG3 10734 broad.mit.edu 37 7 99796515 99796515 + Missense_Mutation SNP C C T TCGA-EM-A22L-01A-11D-A17V-08 TCGA-EM-A22L-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d97ee252-2e59-49f9-bcdb-486493788808 4c38ef42-92bd-4077-a3b6-0d736fec72be g.chr7:99796515C>T ENST00000426455.1 + 14 1809 c.1402C>T c.(1402-1404)Cgc>Tgc p.R468C STAG3_ENST00000317296.5_Missense_Mutation_p.R468C|STAG3_ENST00000394018.2_Missense_Mutation_p.R410C|STAG3_ENST00000440830.1_3'UTR Q9UJ98 STAG3_HUMAN stromal antigen 3 468 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding p.R468C(1) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AAGAGAGCAACGCCAGAGCCC 0.537000 35 65 0 0 0.003755 0 0 PIGS 94005 broad.mit.edu 37 17 26882008 26882008 + Missense_Mutation SNP A A G TCGA-EM-A22L-01A-11D-A17V-08 TCGA-EM-A22L-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d97ee252-2e59-49f9-bcdb-486493788808 4c38ef42-92bd-4077-a3b6-0d736fec72be g.chr17:26882008A>G ENST00000308360.7 - 11 1628 c.1253T>C c.(1252-1254)cTa>cCa p.L418P PIGS_ENST00000543734.1_Missense_Mutation_p.L357P|PIGS_ENST00000395346.2_Missense_Mutation_p.L410P NM_033198.3 NP_149975.1 Q96S52 PIGS_HUMAN phosphatidylinositol glycan anchor biosynthesis, class S 418 attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(42;0.00431) CCAGGTCATTAGCCCTTCACT 0.587000 3 54 0 0 0.004672 0 0 SEC22B 9554 broad.mit.edu 37 1 145116147 145116148 + RNA INS - - A rs138980379 TCGA-EM-A22L-01A-11D-A17V-08 TCGA-EM-A22L-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d97ee252-2e59-49f9-bcdb-486493788808 4c38ef42-92bd-4077-a3b6-0d736fec72be g.chr1:145116147_145116148insA ENST00000453618.1 + 0 1233_1234 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding AGTAGATTGTTATTTCGTTTTT 0.416 2 4 --- --- --- --- TPTE2P1 0 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-EM-A22L-01A-11D-A17V-08 TCGA-EM-A22L-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d97ee252-2e59-49f9-bcdb-486493788808 4c38ef42-92bd-4077-a3b6-0d736fec72be g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 5 10 --- --- --- --- ZNF219 0 broad.mit.edu 37 14 21560753 21560758 + In_Frame_Del DEL GAGGCT GAGGCT - rs71794845 TCGA-EM-A22L-01A-11D-A17V-08 TCGA-EM-A22L-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d97ee252-2e59-49f9-bcdb-486493788808 4c38ef42-92bd-4077-a3b6-0d736fec72be g.chr14:21560753_21560758delGAGGCT ENST00000360947.3 - 3 1109_1114 c.698_703delAGCCTC c.(697-705)cca>c p.QPP233del ZNF219_ENST00000451119.2_In_Frame_Del_p.QPP233del|ZNF219_ENST00000421093.2_In_Frame_Del_p.QPP233del NM_016423.2 NP_057507.2 Q9P2Y4 ZN219_HUMAN zinc finger protein 219 233 Missing (in Ref. 3; AAH00694). negative regulation of transcription, DNA-dependent integral to membrane|nucleus DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.Q233_P234delQP(3) breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2) 8 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08) GBM - Glioblastoma multiforme(265;0.0191) ggctggggtggaggctgaggctgagg 0.743 OREG0022565 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 4 --- --- --- ---