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 FOXM1 2305 broad.mit.edu 37 12 2983216 2983216 + Silent SNP T T G TCGA-DE-A2OL-01A-11D-A18F-08 TCGA-DE-A2OL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc812906-d3b6-4210-a842-96f095280cbf 385b3242-e4b2-4574-9289-48b8826ae644 g.chr12:2983216T>G ENST00000342628.2 - 2 542 c.429A>C c.(427-429)ccA>ccC p.P143P FOXM1_ENST00000361953.3_Silent_p.P143P|FOXM1_ENST00000359843.3_Silent_p.P143P|FOXM1_ENST00000537018.1_5'UTR NM_202002.2 NP_973731.1 Q08050 FOXM1_HUMAN forkhead box M1 143 cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3) 24 OV - Ovarian serous cystadenocarcinoma(31;0.000622) CTGCAGGTTTTGGTCCCAAGG 0.572000 3 134 0 0 6.4e-05 0 0 STK32B 55351 broad.mit.edu 37 4 5468544 5468544 + Missense_Mutation SNP A A C TCGA-DE-A2OL-01A-11D-A18F-08 TCGA-DE-A2OL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc812906-d3b6-4210-a842-96f095280cbf 385b3242-e4b2-4574-9289-48b8826ae644 g.chr4:5468544A>C ENST00000282908.5 + 10 1446 c.1024A>C c.(1024-1026)Aag>Cag p.K342Q STK32B_ENST00000512636.1_Missense_Mutation_p.K265Q|STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000510398.1_Missense_Mutation_p.K295Q NM_018401.1 NP_060871.1 Q9NY57 ST32B_HUMAN serine/threonine kinase 32B 342 K -> T (in dbSNP:rs55961955). ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 39 GGATGGCACAAAGGACAGCTG 0.502000 3 40 0 0 0.00024832 0 0 MAS1L 116511 broad.mit.edu 37 6 29454710 29454710 + Missense_Mutation SNP T T C TCGA-DE-A2OL-01A-11D-A18F-08 TCGA-DE-A2OL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc812906-d3b6-4210-a842-96f095280cbf 385b3242-e4b2-4574-9289-48b8826ae644 g.chr6:29454710T>C ENST00000377127.3 - 1 1028 c.970A>G c.(970-972)Agg>Ggg p.R324G NM_052967.1 NP_443199.1 P35410 MAS1L_HUMAN MAS1 oncogene-like 324 cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity p.R324G(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2) 28 TCCTTCAGCCTTTTCTTTCTG 0.463000 3 127 0 0 0.00024832 0 0 AC024560.3 0 broad.mit.edu 37 3 197348634 197348634 + RNA SNP G G C TCGA-DE-A2OL-01A-11D-A18F-08 TCGA-DE-A2OL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc812906-d3b6-4210-a842-96f095280cbf 385b3242-e4b2-4574-9289-48b8826ae644 g.chr3:197348634G>C ENST00000418868.1 - 0 625 NR_003266.2 CAGCAGCACCGATGGGCCTGC 0.542000 3 31 0 0 6.4e-05 0 0 FRG1B 0 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-DE-A2OL-01A-11D-A18F-08 TCGA-DE-A2OL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc812906-d3b6-4210-a842-96f095280cbf 385b3242-e4b2-4574-9289-48b8826ae644 g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 5 98 0 0 0.00198382 0 0 OTUB1 55611 broad.mit.edu 37 11 63764532 63764532 + Missense_Mutation SNP T T C TCGA-DE-A2OL-01A-11D-A18F-08 TCGA-DE-A2OL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc812906-d3b6-4210-a842-96f095280cbf 385b3242-e4b2-4574-9289-48b8826ae644 g.chr11:63764532T>C ENST00000541478.1 + 3 591 c.131T>C c.(130-132)cTg>cCg p.L44P OTUB1_ENST00000535715.1_Missense_Mutation_p.L145P|OTUB1_ENST00000422031.2_Missense_Mutation_p.L182P|OTUB1_ENST00000543988.1_Missense_Mutation_p.L115P|OTUB1_ENST00000428192.2_Missense_Mutation_p.L145P|OTUB1_ENST00000538426.1_Missense_Mutation_p.L145P|OTUB1_ENST00000543004.1_Missense_Mutation_p.L154P Q96FW1 OTUB1_HUMAN OTU domain, ubiquitin aldehyde binding 1 145 protein K48-linked deubiquitination cytoplasm NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1) 6 TTCATGGACCTGATTGAGCAG 0.617000 3 84 0 0 6.4e-05 0 0 TEAD4 7004 broad.mit.edu 37 12 3127744 3127744 + Missense_Mutation SNP A A T TCGA-DE-A2OL-01A-11D-A18F-08 TCGA-DE-A2OL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc812906-d3b6-4210-a842-96f095280cbf 385b3242-e4b2-4574-9289-48b8826ae644 g.chr12:3127744A>T ENST00000359864.2 + 7 707 c.517A>T c.(517-519)Acg>Tcg p.T173S TEAD4_ENST00000358409.2_Missense_Mutation_p.T130S|TEAD4_ENST00000397122.2_Missense_Mutation_p.T44S NM_003213.3 NP_003204.2 Q15561 TEAD4_HUMAN TEA domain family member 4 173 hippo signaling cascade|muscle organ development|skeletal system development DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 Ovarian(42;0.211) OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831) CCAAGCCGGAACGTCCCATGA 0.582000 18 45 0 0 0.00121646 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-DE-A2OL-01A-11D-A18F-08 TCGA-DE-A2OL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc812906-d3b6-4210-a842-96f095280cbf 385b3242-e4b2-4574-9289-48b8826ae644 g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 3 38 0 0 0.00024832 0 0 THPO 7066 broad.mit.edu 37 3 184090683 184090683 + Missense_Mutation SNP G G C TCGA-DE-A2OL-01A-11D-A18F-08 TCGA-DE-A2OL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc812906-d3b6-4210-a842-96f095280cbf 385b3242-e4b2-4574-9289-48b8826ae644 g.chr3:184090683G>C ENST00000204615.7 - 6 894 c.680C>G c.(679-681)gCc>gGc p.A227G THPO_ENST00000421442.2_Missense_Mutation_p.S188R|EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000445696.2_Missense_Mutation_p.A223G NM_000460.2|NM_001177597.1|NM_001177598.1 NP_000451.1|NP_001171068.1|NP_001171069.1 P40225 TPO_HUMAN thrombopoietin 227 cell proliferation|platelet activation extracellular space cytokine activity|growth factor activity|hormone activity NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AGGAATCTTGGCTCTGAATCC 0.527000 4 50 0 0 0.00024832 0 0 UBASH3A 53347 broad.mit.edu 37 21 43838718 43838718 + Splice_Site SNP G G T TCGA-DE-A2OL-01A-11D-A18F-08 TCGA-DE-A2OL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc812906-d3b6-4210-a842-96f095280cbf 385b3242-e4b2-4574-9289-48b8826ae644 g.chr21:43838718G>T ENST00000319294.6 + 7 1077 c.1046_splice c.e7+1 p.R349_splice UBASH3A_ENST00000291535.6_Splice_Site_p.R311_splice|UBASH3A_ENST00000398367.1_Splice_Site_p.R311_splice NM_018961.3 NP_061834.1 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing A 349 cytosol|nucleus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 GTGAAGCACAGGTGAGTGCTG 0.582000 13 17 4.36969e-10 1.60989e-09 0.00185496 1 0 RGL2 5863 broad.mit.edu 37 6 33263171 33263171 + Missense_Mutation SNP G G A TCGA-DE-A2OL-01A-11D-A18F-08 TCGA-DE-A2OL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc812906-d3b6-4210-a842-96f095280cbf 385b3242-e4b2-4574-9289-48b8826ae644 g.chr6:33263171G>A ENST00000497454.1 - 8 1544 c.1049C>T c.(1048-1050)tCa>tTa p.S350L PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000444031.2_Missense_Mutation_p.S268L|RGL2_ENST00000437840.2_5'UTR NM_001243738.1|NM_004761.4 NP_001230667.1|NP_004752.1 O15211 RGL2_HUMAN ral guanine nucleotide dissociation stimulator-like 2 350 Ras-GEF. Ras protein signal transduction|regulation of small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 34 GGCATAAACTGAAGAGAAGTT 0.602000 5 6 0 0 0.00198382 0 0 TLR4 7099 broad.mit.edu 37 9 120475419 120475419 + Missense_Mutation SNP T T C TCGA-DE-A2OL-01A-11D-A18F-08 TCGA-DE-A2OL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc812906-d3b6-4210-a842-96f095280cbf 385b3242-e4b2-4574-9289-48b8826ae644 g.chr9:120475419T>C ENST00000355622.6 + 3 1114 c.1013T>C c.(1012-1014)gTt>gCt p.V338A TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.V298A NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 338 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 TTAGAATTAGTTAACTGTAAA 0.338000 14 60 0 0 0.00244969 0 0 TUBB4B 10383 broad.mit.edu 37 9 140137041 140137041 + Missense_Mutation SNP C C G TCGA-DE-A2OL-01A-11D-A18F-08 TCGA-DE-A2OL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc812906-d3b6-4210-a842-96f095280cbf 385b3242-e4b2-4574-9289-48b8826ae644 g.chr9:140137041C>G ENST00000340384.4 + 4 519 c.371C>G c.(370-372)gCt>gGt p.A124G NM_006088.5 NP_006079.1 P68371 TBB2C_HUMAN tubulin, beta 4B class IVb 124 'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization cytosol|microtubule GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding AGAAAGGAGGCTGAGAGCTGT 0.617000 26 46 0 0 0.00395357 0 0 TG 7038 broad.mit.edu 37 8 133906022 133906022 + Missense_Mutation SNP G G A TCGA-DE-A2OL-01A-11D-A18F-08 TCGA-DE-A2OL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc812906-d3b6-4210-a842-96f095280cbf 385b3242-e4b2-4574-9289-48b8826ae644 g.chr8:133906022G>A ENST00000220616.4 + 11 2889 c.2849G>A c.(2848-2850)cGg>cAg p.R950Q TG_ENST00000377869.1_Missense_Mutation_p.R950Q NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 950 Thyroglobulin type-1 8. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AACAGTTCTCGGTTCCCTCTG 0.572000 4 111 0 0 0.00024832 0 0 PDPN 10630 broad.mit.edu 37 1 13942398 13942398 + Splice_Site SNP A A G TCGA-DE-A2OL-01A-11D-A18F-08 TCGA-DE-A2OL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc812906-d3b6-4210-a842-96f095280cbf 385b3242-e4b2-4574-9289-48b8826ae644 g.chr1:13942398A>G ENST00000294489.6 + 6 1051 c.e6-1 PDPN_ENST00000509009.1_Splice_Site|PDPN_ENST00000475043.1_Splice_Site|PDPN_ENST00000513143.1_Splice_Site|PDPN_ENST00000487038.1_Splice_Site|PDPN_ENST00000376061.4_Splice_Site|PDPN_ENST00000376057.4_Splice_Site Q86YL7 PDPN_HUMAN podoplanin cell morphogenesis|lymphangiogenesis|regulation of cell shape filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 16 Ovarian(185;0.249) all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678) CTATTTTCACAGGCCCTAAAG 0.478000 3 83 0 0 6.4e-05 0 0 FAM13A 10144 broad.mit.edu 37 4 89653166 89653166 + Missense_Mutation SNP G G T TCGA-DE-A2OL-01A-11D-A18F-08 TCGA-DE-A2OL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc812906-d3b6-4210-a842-96f095280cbf 385b3242-e4b2-4574-9289-48b8826ae644 g.chr4:89653166G>T ENST00000264344.5 - 22 3037 c.2830C>A c.(2830-2832)Cat>Aat p.H944N FAM13A_ENST00000508369.1_Missense_Mutation_p.H618N|FAM13A_ENST00000511976.1_Missense_Mutation_p.H530N|FAM13A_ENST00000395002.2_Missense_Mutation_p.H590N|FAM13A_ENST00000513837.1_Missense_Mutation_p.H590N|FAM13A_ENST00000503556.1_Missense_Mutation_p.H604N NM_014883.3 NP_055698.2 O94988 FA13A_HUMAN family with sequence similarity 13, member A 944 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 55 GAGGCAGCATGGAGATTTGAA 0.368000 4 46 0.00116845 0.00408956 0.00116845 1 0 AC016995.3 0 broad.mit.edu 37 2 38710017 38710019 + RNA DEL AAT AAT - rs2005502 by1000genomes TCGA-DE-A2OL-01A-11D-A18F-08 TCGA-DE-A2OL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc812906-d3b6-4210-a842-96f095280cbf 385b3242-e4b2-4574-9289-48b8826ae644 g.chr2:38710017_38710019delAAT ENST00000417039.1 - 0 696 TTCTTtaaaaaataaataaataa 0.246 4 2 --- --- --- --- TPTE2P1 0 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-DE-A2OL-01A-11D-A18F-08 TCGA-DE-A2OL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc812906-d3b6-4210-a842-96f095280cbf 385b3242-e4b2-4574-9289-48b8826ae644 g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 4 6 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-DE-A2OL-01A-11D-A18F-08 TCGA-DE-A2OL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc812906-d3b6-4210-a842-96f095280cbf 385b3242-e4b2-4574-9289-48b8826ae644 g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 18 242 --- --- --- --- DOK6 220164 broad.mit.edu 37 18 67231729 67231729 + Frame_Shift_Del DEL A A - TCGA-DE-A2OL-01A-11D-A18F-08 TCGA-DE-A2OL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc812906-d3b6-4210-a842-96f095280cbf 385b3242-e4b2-4574-9289-48b8826ae644 g.chr18:67231729delA ENST00000382713.5 + 2 263 c.73delA c.(73-75)gafs p.R26fs RP11-465I4.2_ENST00000583991.1_RNA NM_152721.5 NP_689934.2 Q6PKX4 DOK6_HUMAN docking protein 6 26 PH. insulin receptor binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(73;0.083)|Esophageal squamous(42;0.131) TCAGATTTTCAGACGATGCTG 0.328 18 23 --- --- --- --- RP4-777D9.2 0 broad.mit.edu 37 20 21146788 21146789 + RNA INS - - T rs34056823 TCGA-DE-A2OL-01A-11D-A18F-08 TCGA-DE-A2OL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc812906-d3b6-4210-a842-96f095280cbf 385b3242-e4b2-4574-9289-48b8826ae644 g.chr20:21146788_21146789insT ENST00000591761.1 - 0 5051 PLK1S1_ENST00000457464.1_RNA tgtattttGTATTTTTTTTTTT 0.401 14 9 --- --- --- ---