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 HSD3B2 3284 broad.mit.edu 37 1 119964584 119964584 + Missense_Mutation SNP T T C TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr1:119964584T>C ENST00000543831.1 + 4 709 c.460T>C c.(460-462)Tac>Cac p.Y154H HSD3B2_ENST00000369416.3_Missense_Mutation_p.Y154H NM_001166120.1 NP_001159592.1 P26439 3BHS2_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 154 androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1) 27 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) GCCCACTCCATACCCGTACAG 0.507 59 110 --- --- --- --- TTL 150465 broad.mit.edu 37 2 113260504 113260504 + Silent SNP G G A TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr2:113260504G>A ENST00000233336.6 + 5 812 c.621G>A c.(619-621)gtG>gtA p.V207V NM_153712.4 NP_714923.1 Q8NG68 TTL_HUMAN tubulin tyrosine ligase TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity breast(1)|large_intestine(2)|ovary(1) 4 Ovarian(717;0.024) BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644) GGGTCTTGGTGGATCATCAGT 0.388 T ETV6 ALL 13 39 --- --- --- --- HMGCS1 3157 broad.mit.edu 37 5 43296014 43296014 + Missense_Mutation SNP T T A TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr5:43296014T>A ENST00000325110.6 - 6 951 c.745A>T c.(745-747)Aat>Tat p.N249Y HMGCS1_ENST00000433297.2_Missense_Mutation_p.N249Y NM_001098272.2 NP_001091742.1 Q01581 HMCS1_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) 249 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|soluble fraction hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1) 15 TCTTTATCATTTCCCTCTGAA 0.318 4 59 --- --- --- --- ZNF300P1 134466 broad.mit.edu 37 5 150322149 150322149 + RNA SNP A A G TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr5:150322149A>G ENST00000520773.1 - 0 1335 CCAGCATCACATCCCTGTACA 0.502 12 57 --- --- --- --- PRIM2 5558 broad.mit.edu 37 6 57372333 57372333 + Missense_Mutation SNP C C A TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr6:57372333C>A ENST00000607273.1 + 8 826 c.739C>A c.(739-741)Cag>Aag p.Q247K PRIM2_ENST00000389488.2_3'UTR NM_000947.3 NP_000938.2 P49643 PRI2_HUMAN primase, DNA, polypeptide 2 (58kDa) 247 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1) 59 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) TGAAAGACTTCAGCCTCTGCT 0.403 4 41 --- --- --- --- TRGV2 6974 broad.mit.edu 37 7 38402925 38402925 + RNA SNP T T C TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr7:38402925T>C ENST00000426402.2 - 0 194 TAGGGCCCACTGCATGCCTTC 0.507 4 65 --- --- --- --- FEZF1 389549 broad.mit.edu 37 7 121942294 121942294 + Silent SNP G G A TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr7:121942294G>A ENST00000442488.2 - 4 1252 c.1185C>T c.(1183-1185)aaC>aaT p.N395N FEZF1_ENST00000331178.4_Silent_p.N391N|FEZF1_ENST00000427185.2_Silent_p.N345N NM_001024613.2|NM_001160264.1 NP_001019784.2|NP_001153736.1 A0PJY2 FEZF1_HUMAN FEZ family zinc finger 1 395 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1) 25 GCTTCTTGTCGTTGTGGGTGT 0.547 5 113 --- --- --- --- SIPA1 6494 broad.mit.edu 37 11 65413798 65413798 + Missense_Mutation SNP T T C TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr11:65413798T>C ENST00000394224.3 + 7 1666 c.1370T>C c.(1369-1371)gTg>gCg p.V457A SIPA1_ENST00000534313.1_Missense_Mutation_p.V457A|SIPA1_ENST00000394227.3_Missense_Mutation_p.V457A|SIPA1_ENST00000527525.1_Missense_Mutation_p.V457A NM_153253.29 NP_694985.29 Q96FS4 SIPA1_HUMAN signal-induced proliferation-associated 1 457 Rap-GAP. cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth cytosol|endomembrane system|membrane|perinuclear region of cytoplasm Rap GTPase activator activity cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 10 TTCCAGCACGTGTTCCTAGTG 0.642 8 44 --- --- --- --- CAPN5 726 broad.mit.edu 37 11 76823690 76823690 + Missense_Mutation SNP C C T TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr11:76823690C>T ENST00000278559.3 + 4 542 c.353C>T c.(352-354)gCg>gTg p.A118V CAPN5_ENST00000456580.2_Missense_Mutation_p.A158V|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.A118V NM_004055.4 NP_004046.2 O15484 CAN5_HUMAN calpain 5 118 Calpain catalytic. proteolysis|signal transduction intracellular calcium-dependent cysteine-type endopeptidase activity NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1) 30 AACGCCTACGCGGGCATCTTC 0.612 8 52 --- --- --- --- NXPE4 54827 broad.mit.edu 37 11 114450926 114450926 + Missense_Mutation SNP C C T TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr11:114450926C>T ENST00000375478.3 - 5 1207 c.1027G>A c.(1027-1029)Gga>Aga p.G343R NXPE4_ENST00000424261.2_Missense_Mutation_p.G59R NM_001077639.1 NP_001071107.1 neurexophilin and PC-esterase domain family, member 4 ATGAGTTTTCCTCTCAGGCAT 0.443 17 83 --- --- --- --- AVPR1A 552 broad.mit.edu 37 12 63544328 63544328 + Missense_Mutation SNP C C A TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr12:63544328C>A ENST00000299178.2 - 1 394 c.289G>T c.(289-291)Gac>Tac p.D97Y NM_000706.4 NP_000697.1 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 97 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1) 26 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) ACGGCCAGGTCGGCCAGGCTG 0.667 8 20 --- --- --- --- RASSF9 9182 broad.mit.edu 37 12 86198925 86198925 + Missense_Mutation SNP T T C TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr12:86198925T>C ENST00000361228.3 - 2 1231 c.863A>G c.(862-864)gAa>gGa p.E288G NM_005447.3 NP_005438.2 O75901 RASF9_HUMAN Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 288 endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TACCTCTTTTTCTATTTCAGC 0.398 21 97 --- --- --- --- STAB2 55576 broad.mit.edu 37 12 104056648 104056648 + Missense_Mutation SNP G G A TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr12:104056648G>A ENST00000388887.2 + 18 2098 c.1894G>A c.(1894-1896)Gca>Aca p.A632T NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 632 FAS1 2. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 AAATGATGTGGCAATGGAAGA 0.458 10 74 --- --- --- --- BMP4 652 broad.mit.edu 37 14 54416914 54416914 + Missense_Mutation SNP C C T TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr14:54416914C>T ENST00000245451.4 - 4 1456 c.1063G>A c.(1063-1065)Gcc>Acc p.A355T BMP4_ENST00000559087.1_Missense_Mutation_p.A355T|BMP4_ENST00000558984.1_Missense_Mutation_p.A355T|BMP4_ENST00000417573.1_Missense_Mutation_p.A355T NM_001202.3 NP_001193.2 P12644 BMP4_HUMAN bone morphogenetic protein 4 355 activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway extracellular space|proteinaceous extracellular matrix BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1) 19 TGCACAATGGCATGGTTGGTT 0.547 37 54 --- --- --- --- IGHJ5 28476 broad.mit.edu 37 14 106330052 106330052 + RNA SNP G G A TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr14:106330052G>A ENST00000488476.1 - 0 20 GGGTTCCCTGGCCCCAGGGGT 0.617 3 8 --- --- --- --- KRT27 342574 broad.mit.edu 37 17 38936677 38936677 + Missense_Mutation SNP C C T rs116334559 by1000genomes TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr17:38936677C>T ENST00000301656.3 - 3 599 c.559G>A c.(559-561)Gtg>Atg p.V187M NM_181537.3 NP_853515.2 Q7Z3Y8 K1C27_HUMAN keratin 27 187 Coil 1B.|Rod. cytoplasm|intermediate filament structural molecule activity p.V187M(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1) 21 Breast(137;0.000812) TCCGCCTCCACGCTCTGGTGA 0.468 7 20 --- --- --- --- AXL 558 broad.mit.edu 37 19 41758339 41758339 + Missense_Mutation SNP A A G TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr19:41758339A>G ENST00000301178.4 + 15 1985 c.1795A>G c.(1795-1797)Agg>Ggg p.R599G AXL_ENST00000359092.3_Missense_Mutation_p.R590G|AXL_ENST00000593513.1_Missense_Mutation_p.R331G NM_001278599.1|NM_021913.3 NP_001265528.1|NP_068713 P30530 UFO_HUMAN AXL receptor tyrosine kinase 599 Protein kinase. integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 CAACGTCATGAGGCTCATCGG 0.552 5 36 --- --- --- --- KLK12 43849 broad.mit.edu 37 19 51534119 51534119 + Nonsense_Mutation SNP G G T TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr19:51534119G>T ENST00000250352.11 - 4 859 c.186C>A c.(184-186)tgC>tgA p.C62* KLK12_ENST00000250351.4_Nonsense_Mutation_p.C172*|KLK12_ENST00000529888.1_Missense_Mutation_p.P86T|CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000319590.4_Nonsense_Mutation_p.C172*|KLK12_ENST00000525263.1_Nonsense_Mutation_p.C172* Q9UKR0 KLK12_HUMAN kallikrein-related peptidase 12 172 Peptidase S1. proteolysis extracellular region|soluble fraction serine-type endopeptidase activity endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 12 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399) ACACACCATGGCAGGTGGCAT 0.622 8 121 --- --- --- --- C20orf26 26074 broad.mit.edu 37 20 20232251 20232251 + Silent SNP T T C TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr20:20232251T>C ENST00000245957.5 + 20 2248 c.2172T>C c.(2170-2172)aaT>aaC p.N724N C20orf26_ENST00000377309.2_Silent_p.N80N|C20orf26_ENST00000389656.3_Silent_p.N80N|C20orf26_ENST00000377293.1_Silent_p.N80N NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 724 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) ACTGTTTTAATGATAAAGATT 0.488 17 170 --- --- --- --- IFNB1 3456 broad.mit.edu 37 9 21077860 21077860 + Frame_Shift_Del DEL G G - TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr9:21077860delG ENST00000380232.2 - 1 83 c.9delC c.(7-9)aacfs p.N3fs NM_002176.2 NP_002167.1 P01574 IFNB_HUMAN interferon, beta 1, fibroblast 3 activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1) 12 GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11) Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068) GGAGACACTTGTTGGTCATGT 0.458 7 32 --- --- --- --- HSPA5 3309 broad.mit.edu 37 9 128003114 128003115 + Frame_Shift_Del DEL AT AT - TCGA-KK-A8I4-01A-11D-A364-08 TCGA-KK-A8I4-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9dce7b79-9898-4034-bf5a-463e3eba9f39 7b5c45f2-39e1-4da3-af33-4b8f35de09c7 g.chr9:128003114_128003115delAT ENST00000324460.6 - 2 397_398 c.194_195delAT c.(193-195)tatfs p.Y65fs NM_005347.4 NP_005338.1 P11021 GRP78_HUMAN heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) 65 anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1) 23 Antihemophilic Factor(DB00025) TGAAGGCGACATAGGACGGCGT 0.599 Prostate(1;0.17) 26 60 --- --- --- ---