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 N4BP3 23138 broad.mit.edu 37 5 177547253 177547253 + Silent SNP G G A TCGA-CE-A483-01A-11D-A23U-08 TCGA-CE-A483-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc9603f-fb8b-4a6c-b048-f6bd6956eb0f 22aacc1b-445f-4882-909b-cccc9f1f90cb g.chr5:177547253G>A ENST00000274605.5 + 3 764 c.405G>A c.(403-405)gcG>gcA p.A135A NM_015111.1 NP_055926.1 O15049 N4BP3_HUMAN NEDD4 binding protein 3 135 cytoplasmic vesicle membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 9 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AAAGTCTGGCGTCCCACAAAG 0.682000 3 34 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-CE-A483-01A-11D-A23U-08 TCGA-CE-A483-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc9603f-fb8b-4a6c-b048-f6bd6956eb0f 22aacc1b-445f-4882-909b-cccc9f1f90cb g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 4 48 0 0 1 0 0 SEMA4G 57715 broad.mit.edu 37 10 102743721 102743721 + Silent SNP C C T TCGA-CE-A483-01A-11D-A23U-08 TCGA-CE-A483-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc9603f-fb8b-4a6c-b048-f6bd6956eb0f 22aacc1b-445f-4882-909b-cccc9f1f90cb g.chr10:102743721C>T ENST00000210633.3 + 14 2443 c.2365C>T c.(2365-2367)Ctg>Ttg p.L789L RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000342071.1_Silent_p.Q192Q|MRPL43_ENST00000370242.4_Silent_p.Q192Q|SEMA4G_ENST00000517724.1_Intron|MRPL43_ENST00000318325.2_Intron|SEMA4G_ENST00000370250.4_Silent_p.L784L|MRPL43_ENST00000299179.5_Intron Q9NTN9 SEM4G_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G 784 cell differentiation|nervous system development integral to membrane receptor activity breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Colorectal(252;0.234) Epithelial(162;3.71e-09)|all cancers(201;2.1e-07) CTTGGTGGCACTGCCCAGCCG 0.652000 4 51 0 0 1 0 0 GLI3 2737 broad.mit.edu 37 7 42005532 42005532 + Nonsense_Mutation SNP G G A TCGA-CE-A483-01A-11D-A23U-08 TCGA-CE-A483-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc9603f-fb8b-4a6c-b048-f6bd6956eb0f 22aacc1b-445f-4882-909b-cccc9f1f90cb g.chr7:42005532G>A ENST00000395925.3 - 15 3223 c.3139C>T c.(3139-3141)Cag>Tag p.Q1047* GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 1047 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 GTGTAATTCTGAAGCACGAGA 0.672000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 17 41 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12343170 12343170 + Missense_Mutation SNP C C G TCGA-CE-A483-01A-11D-A23U-08 TCGA-CE-A483-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc9603f-fb8b-4a6c-b048-f6bd6956eb0f 22aacc1b-445f-4882-909b-cccc9f1f90cb g.chr1:12343170C>G ENST00000358136.3 + 21 5141 c.5011C>G c.(5011-5013)Ctg>Gtg p.L1671V VPS13D_ENST00000356315.4_Missense_Mutation_p.L1671V NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 1671 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CCTGCATTCTCTGCTGATGGA 0.443000 4 85 0 0 1 0 0 FANCD2 2177 broad.mit.edu 37 3 10081545 10081545 + Silent SNP G G C rs17032283 by1000genomes TCGA-CE-A483-01A-11D-A23U-08 TCGA-CE-A483-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc9603f-fb8b-4a6c-b048-f6bd6956eb0f 22aacc1b-445f-4882-909b-cccc9f1f90cb g.chr3:10081545G>C ENST00000431693.1 + 8 749 c.711G>C c.(709-711)ctG>ctC p.L237L FANCD2_ENST00000287647.3_Intron|FANCD2_ENST00000383807.1_Intron|FANCD2_ENST00000438741.1_Intron|FANCD2_ENST00000419585.1_Intron|FANCD2_ENST00000383806.1_Intron Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 0 Interaction with FANCE. DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) TAAACCCTCTGTCATCATCTA 0.478000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 4 40 0 0 1 0 0 MTHFD1 4522 broad.mit.edu 37 14 64855041 64855041 + Missense_Mutation SNP T T C rs1076991 by1000genomes TCGA-CE-A483-01A-11D-A23U-08 TCGA-CE-A483-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc9603f-fb8b-4a6c-b048-f6bd6956eb0f 22aacc1b-445f-4882-909b-cccc9f1f90cb g.chr14:64855041T>C ENST00000545908.1 + 1 293 c.64T>C c.(64-66)Tgg>Cgg p.W22R MTHFD1_ENST00000555709.1_5'UTR|MTHFD1_ENST00000555252.1_5'UTR|MTHFD1_ENST00000216605.7_Missense_Mutation_p.W22R P11586 C1TC_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase 0 Methylenetetrahydrofolate dehydrogenase and cyclohydrolase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 30 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) TGTGATCCCCTGGCCAGTCCC 0.622000 3 36 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414373 20414373 + Silent SNP G G A TCGA-CE-A483-01A-11D-A23U-08 TCGA-CE-A483-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc9603f-fb8b-4a6c-b048-f6bd6956eb0f 22aacc1b-445f-4882-909b-cccc9f1f90cb g.chr9:20414373G>A ENST00000380338.4 - 5 757 c.471C>T c.(469-471)agC>agT p.S157S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 157 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S157S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.527000 T MLL ALL 4 53 0 0 1 0 0 CYP2D7P1 0 broad.mit.edu 37 22 42537196 42537196 + RNA SNP T T C rs56404506 by1000genomes TCGA-CE-A483-01A-11D-A23U-08 TCGA-CE-A483-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc9603f-fb8b-4a6c-b048-f6bd6956eb0f 22aacc1b-445f-4882-909b-cccc9f1f90cb g.chr22:42537196T>C ENST00000435101.1 - 0 261 CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000433992.1_RNA endometrium(1) 1 TTCGATGTCATGGGATGTCAT 0.602000 4 12 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109795934 109795934 + Missense_Mutation SNP C C T TCGA-CE-A483-01A-11D-A23U-08 TCGA-CE-A483-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc9603f-fb8b-4a6c-b048-f6bd6956eb0f 22aacc1b-445f-4882-909b-cccc9f1f90cb g.chr1:109795934C>T ENST00000271332.3 + 1 3294 c.3233C>T c.(3232-3234)tCc>tTc p.S1078F NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 1078 Cadherin 9. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CTCAATGCCTCCACGGGTGAG 0.587000 4 44 0 0 1 0 0 AJ271736.10 0 broad.mit.edu 37 X 155252868 155252868 + RNA SNP T T A TCGA-CE-A483-01A-11D-A23U-08 TCGA-CE-A483-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc9603f-fb8b-4a6c-b048-f6bd6956eb0f 22aacc1b-445f-4882-909b-cccc9f1f90cb g.chrX:155252868T>A ENST00000285718.7 + 0 819 WASH6P_ENST00000461007.1_RNA p.P304P(5) TAGCCGAGCCTCTCAAGGCAG 0.632000 3 10 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-CE-A483-01A-11D-A23U-08 TCGA-CE-A483-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc9603f-fb8b-4a6c-b048-f6bd6956eb0f 22aacc1b-445f-4882-909b-cccc9f1f90cb g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 3 22 0 0 1 0 0 KRT16 3868 broad.mit.edu 37 17 39768695 39768695 + Silent SNP G G A rs138306349 byFrequency TCGA-CE-A483-01A-11D-A23U-08 TCGA-CE-A483-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc9603f-fb8b-4a6c-b048-f6bd6956eb0f 22aacc1b-445f-4882-909b-cccc9f1f90cb g.chr17:39768695G>A ENST00000301653.4 - 1 310 c.246C>T c.(244-246)ttC>ttT p.F82F NM_005557.3 NP_005548.2 P08779 K1C16_HUMAN keratin 16 82 Head. cell proliferation|epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Breast(137;0.000307) atcctcccccgaagccactac 0.642000 3 28 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-CE-A483-01A-11D-A23U-08 TCGA-CE-A483-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc9603f-fb8b-4a6c-b048-f6bd6956eb0f 22aacc1b-445f-4882-909b-cccc9f1f90cb 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 15 20 0 0 1 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72658179 72658179 + RNA SNP T T C rs147293416 by1000genomes TCGA-CE-A483-01A-11D-A23U-08 TCGA-CE-A483-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc9603f-fb8b-4a6c-b048-f6bd6956eb0f 22aacc1b-445f-4882-909b-cccc9f1f90cb g.chr7:72658179T>C ENST00000425256.1 - 0 1732 NR_002164.1 cagagtgatttcggatgaatt 0.507000 4 46 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871038 170871040 + In_Frame_Del DEL CAA CAA - rs10592950 TCGA-CE-A483-01A-11D-A23U-08 TCGA-CE-A483-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc9603f-fb8b-4a6c-b048-f6bd6956eb0f 22aacc1b-445f-4882-909b-cccc9f1f90cb g.chr6:170871038_170871040delCAA ENST00000392092.2 + 3 493_495 c.214_216delCAA c.(214-216)del p.Q95del TBP_ENST00000540980.1_In_Frame_Del_p.Q75del|TBP_ENST00000230354.6_In_Frame_Del_p.Q95del NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 95 Poly-Gln. Missing. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q72del(3) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) gcagcagcagcaacagcaacagc 0.567 10 53 --- --- --- --- LURAP1L 286343 broad.mit.edu 37 9 12775861 12775862 + In_Frame_Ins INS - - GGCGGCGGC rs3833707 by1000genomes TCGA-CE-A483-01A-11D-A23U-08 TCGA-CE-A483-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc9603f-fb8b-4a6c-b048-f6bd6956eb0f 22aacc1b-445f-4882-909b-cccc9f1f90cb g.chr9:12775861_12775862insGGCGGCGGC ENST00000319264.3 + 1 842_843 c.147_148insGGCGGCGGC c.(145-150)gggcgg>ggGGCGGCGGCgcgg p.49_50GR>GAAAR LURAP1L_ENST00000489107.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA NM_203403.1 NP_981948.1 Q8IV03 CI150_HUMAN leucine rich adaptor protein 1-like 49 Gly-rich. Missing. p.G49_G50insGGG(2)|p.G50_G52delGGG(1) gcggtggtggtggcggcggcgg 0.688 5 9 --- --- --- --- LTB4R 1241 broad.mit.edu 37 14 24785841 24785841 + Frame_Shift_Del DEL C C - TCGA-CE-A483-01A-11D-A23U-08 TCGA-CE-A483-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc9603f-fb8b-4a6c-b048-f6bd6956eb0f 22aacc1b-445f-4882-909b-cccc9f1f90cb g.chr14:24785841delC ENST00000396789.4 + 2 2709 c.984delC c.(982-984)ggfs p.G328fs LTB4R_ENST00000396782.2_Frame_Shift_Del_p.G328fs|LTB4R_ENST00000345363.3_Frame_Shift_Del_p.G328fs NM_181657.3 NP_858043.1 Q15722 LT4R1_HUMAN leukotriene B4 receptor 328 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction integral to plasma membrane nucleotide binding endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1) 8 GBM - Glioblastoma multiforme(265;0.018) CTAGGAGCGGCCCCGCCGCTC 0.706 2 4 --- --- --- --- GZF1 64412 broad.mit.edu 37 20 23345921 23345923 + In_Frame_Del DEL GAG GAG - TCGA-CE-A483-01A-11D-A23U-08 TCGA-CE-A483-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc9603f-fb8b-4a6c-b048-f6bd6956eb0f 22aacc1b-445f-4882-909b-cccc9f1f90cb g.chr20:23345921_23345923delGAG ENST00000338121.5 + 2 978_980 c.901_903delGAG c.(901-903)del p.E306del GZF1_ENST00000377051.2_In_Frame_Del_p.E306del|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000461789.1_3'UTR Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 306 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2) 24 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) ggaggaggaagaggaggaggagg 0.532 7 66 --- --- --- --- IGLL1 3543 broad.mit.edu 37 22 23922291 23922293 + In_Frame_Del DEL CAG CAG - TCGA-CE-A483-01A-11D-A23U-08 TCGA-CE-A483-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc9603f-fb8b-4a6c-b048-f6bd6956eb0f 22aacc1b-445f-4882-909b-cccc9f1f90cb g.chr22:23922291_23922293delCAG ENST00000330377.2 - 1 202_204 c.85_87delCTG c.(85-87)del p.L29del IGLL1_ENST00000249053.3_In_Frame_Del_p.L29del NM_020070.3 NP_064455.1 P15814 IGLL1_HUMAN immunoglobulin lambda-like polypeptide 1 29 immune response extracellular region|membrane kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1) 12 CGGCCAGACCCAGCAGCAGCAGG 0.719 2 4 --- --- --- ---