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 ZNF778 197320 broad.mit.edu 37 16 89293578 89293578 + Silent SNP C C T TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr16:89293578C>T ENST00000433976.2 + 6 1130 c.798C>T c.(796-798)gcC>gcT p.A266A RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Silent_p.A224A NM_001201407.1|NM_182531.3 NP_001188336.1|NP_872337.2 Q96MU6 ZN778_HUMAN zinc finger protein 778 266 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(80;0.0269) GGTACACTGCCTACCTTACTG 0.527000 4 85 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107049631 107049631 + Silent SNP C C T TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr2:107049631C>T ENST00000409886.3 - 16 2403 c.2316G>A c.(2314-2316)gcG>gcA p.A772A RGPD3_ENST00000304514.7_Silent_p.A772A NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 772 intracellular transport binding p.A772A(4) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TTTCTGAATCCGCATTTCGCA 0.373000 5 380 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22663086 22663086 + RNA SNP T T G rs1054157 by1000genomes TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr22:22663086T>G ENST00000426066.1 + 0 525 NR_027293.1 AGCTGCCACATAAGTTGTCCT 0.299000 4 42 0 0 1 0 0 TRAJ22 0 broad.mit.edu 37 14 22991074 22991074 + RNA SNP A A G TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr14:22991074A>G ENST00000390515.1 + 0 59 TGACTGTTTTACCTGGTAGGC 0.403000 131 258 0 0 1 0 0 HMGB3 3149 broad.mit.edu 37 X 150156360 150156360 + Silent SNP G G A TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chrX:150156360G>A ENST00000325307.7 + 5 672 c.576G>A c.(574-576)gaG>gaA p.E192E HMGB3_ENST00000448905.2_Silent_p.E192E NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 192 Asp/Glu-rich (acidic). DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding p.E192E(1) endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) aggaagaagaggaggaggagg 0.443000 4 58 0 0 1 0 0 PTPN13 0 broad.mit.edu 37 4 87696669 87696669 + Missense_Mutation SNP G G A TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr4:87696669G>A ENST00000436978.1 + 35 6250 c.5770G>A c.(5770-5772)Gca>Aca p.A1924T PTPN13_ENST00000427191.2_Missense_Mutation_p.A1900T|PTPN13_ENST00000316707.6_Missense_Mutation_p.A1728T|PTPN13_ENST00000411767.2_Missense_Mutation_p.A1919T|PTPN13_ENST00000511467.1_Missense_Mutation_p.A1924T NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 1919 PDZ 5. cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) AAGGTCCGTCGCAGCCATTGA 0.383000 6 31 0 0 1 0 0 KRT28 162605 broad.mit.edu 37 17 38950240 38950240 + Missense_Mutation SNP G G A rs150448547 TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr17:38950240G>A ENST00000306658.7 - 6 1102 c.1037C>T c.(1036-1038)gCg>gTg p.A346V NM_181535.3 NP_853513.2 Q7Z3Y7 K1C28_HUMAN keratin 28 346 Coil 2.|Rod. cytoplasm|intermediate filament structural molecule activity NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Breast(137;0.000301) CTGGATCTGCGCCAGCTGCGT 0.577000 15 275 0 0 1 0 0 CEL 1056 broad.mit.edu 37 9 135946995 135946995 + Silent SNP C C T TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr9:135946995C>T ENST00000372080.4 + 11 2131 c.2115C>T c.(2113-2115)ccC>ccT p.P705P CEL_ENST00000351304.7_Silent_p.P636P NM_001807.3 NP_001798.2 P19835 CEL_HUMAN carboxyl ester lipase 702 17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type). cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) GGGCCCCCCCCGTGACCCCCA 0.816000 3 8 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71347240 71347240 + Missense_Mutation SNP T T C rs145745951 byFrequency TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr4:71347240T>C ENST00000413702.1 + 4 1067 c.779T>C c.(778-780)gTc>gCc p.V260A MUC7_ENST00000456088.1_Missense_Mutation_p.V260A|MUC7_ENST00000304887.5_Missense_Mutation_p.V260A NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 260 Thr-rich. extracellular region protein binding p.V260A(1) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCACAGCTGTCCCACCCACA 0.587000 11 277 0 0 1 0 0 ZFP64 55734 broad.mit.edu 37 20 50701174 50701174 + Silent SNP G G A TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr20:50701174G>A ENST00000361387.2 - 9 1920 c.1860C>T c.(1858-1860)agC>agT p.S620S ZFP64_ENST00000371523.4_Silent_p.S401S|ZFP64_ENST00000371518.2_Intron NM_199427.2 NP_955459.2 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 465 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 CCGAGGCACCGCTTTCCGGTG 0.597000 24 43 0 0 1 0 0 IRF7 3665 broad.mit.edu 37 11 615146 615146 + Missense_Mutation SNP T T G TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr11:615146T>G ENST00000397566.1 - 1 582 c.173A>C c.(172-174)aAg>aCg p.K58T IRF7_ENST00000397562.3_5'UTR|IRF7_ENST00000330243.5_Missense_Mutation_p.K58T|IRF7_ENST00000348655.6_Missense_Mutation_p.K45T|IRF7_ENST00000525445.1_5'UTR|IRF7_ENST00000397574.2_Missense_Mutation_p.K45T|IRF7_ENST00000397570.1_Missense_Mutation_p.K45T NM_004031.2 NP_004022.2 Q92985 IRF7_HUMAN interferon regulatory factor 7 45 interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) CGCGAAGTGCTTCCAGGGCAC 0.697000 6 14 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42799050 42799050 + Missense_Mutation SNP C C A TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr19:42799050C>A ENST00000572681.2 + 21 7320 c.7252C>A c.(7252-7254)Cgt>Agt p.R2418S CIC_ENST00000575354.2_Missense_Mutation_p.R1512S|CIC_ENST00000160740.3_Missense_Mutation_p.R1510S Q96RK0 CIC_HUMAN capicua transcriptional repressor 1512 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) GTTGAAGATCCGTGAGGTGCG 0.632000 """Mis, F, S""" oligodendroglioma 32 42 2.75727e-19 3.06364e-19 1 1 0 ANKRD17 26057 broad.mit.edu 37 4 73957008 73957008 + Nonsense_Mutation SNP C C A TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr4:73957008C>A ENST00000358602.4 - 29 6453 c.6337G>T c.(6337-6339)Gga>Tga p.G2113* ANKRD17_ENST00000509867.2_Nonsense_Mutation_p.G2000*|ANKRD17_ENST00000330838.6_Nonsense_Mutation_p.G1862* NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 2113 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GAAACAGATCCCGGAGGTTGT 0.483000 15 182 3.27435e-08 3.48335e-08 1 1 0 TBC1D3P2 0 broad.mit.edu 37 17 60342504 60342504 + RNA SNP T T C TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr17:60342504T>C ENST00000581291.1 - 0 1649 breast(2)|kidney(1)|lung(2) 5 CAGTGCTGGGTGCACTGCAGG 0.637000 6 141 0 0 1 0 0 ARFIP2 23647 broad.mit.edu 37 11 6501609 6501609 + Missense_Mutation SNP G G T TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr11:6501609G>T ENST00000254584.2 - 2 126 c.43C>A c.(43-45)Cct>Act p.P15T ARFIP2_ENST00000445086.2_Intron|ARFIP2_ENST00000423813.2_Intron|ARFIP2_ENST00000525235.1_Missense_Mutation_p.P15T|ARFIP2_ENST00000396777.3_Missense_Mutation_p.P15T NM_012402.3 NP_036534.1 P53365 ARFP2_HUMAN ADP-ribosylation factor interacting protein 2 15 actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction cell cortex|plasma membrane|ruffle GTP binding|GTP-dependent protein binding|Rac GTPase binding endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2) 15 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CCGTGGATAGGGATCTCCATT 0.517000 13 27 0.000308642 0.000321502 1 1 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 8 75 0 0 1 0 0 RP11-69H14.6 0 broad.mit.edu 37 15 22332492 22332492 + RNA SNP A A C TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr15:22332492A>C ENST00000558896.1 + 0 299 TATTTCTCTTATTACTATTTT 0.383000 5 210 0 0 1 0 0 IQGAP2 10788 broad.mit.edu 37 5 75967776 75967776 + Silent SNP G G T TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr5:75967776G>T ENST00000274364.6 + 24 3333 c.3036G>T c.(3034-3036)gtG>gtT p.V1012V IQGAP2_ENST00000502745.1_Silent_p.V508V|IQGAP2_ENST00000379730.3_Silent_p.V514V|IQGAP2_ENST00000396234.3_Silent_p.V508V NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 1012 Ras-GAP. small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) AGGCTTGGGTGAACCAACTAG 0.433000 16 14 6.94344e-10 7.54722e-10 1 1 0 ABCF3 55324 broad.mit.edu 37 3 183908941 183908941 + Silent SNP G G A TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr3:183908941G>A ENST00000429586.2 + 16 1652 c.1467G>A c.(1465-1467)ccG>ccA p.P489P ABCF3_ENST00000292808.5_Silent_p.P483P|EIF2B5_ENST00000444495.1_Intron NM_018358.2 NP_060828.2 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), member 3 489 ATP binding|ATPase activity breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1) 39 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AGTTCTCGCCGCCAATTCTGC 0.567000 5 180 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 37 52 0 0 1 0 0 ABLIM2 84448 broad.mit.edu 37 4 8055951 8055951 + Silent SNP C C T TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr4:8055951C>T ENST00000318888.4 - 8 928 c.57G>A c.(55-57)gcG>gcA p.A19A ABLIM2_ENST00000447017.2_Silent_p.A262A|ABLIM2_ENST00000428004.2_Silent_p.A262A|ABLIM2_ENST00000407564.3_Silent_p.A262A|ABLIM2_ENST00000361581.5_Silent_p.A262A|ABLIM2_ENST00000514025.1_Silent_p.A19A|ABLIM2_ENST00000361737.5_Silent_p.A262A|ABLIM2_ENST00000296372.8_Silent_p.A262A|ABLIM2_ENST00000545242.1_Silent_p.A262A|ABLIM2_ENST00000341937.5_Silent_p.A262A|ABLIM2_ENST00000546334.1_Silent_p.A262A|ABLIM2_ENST00000505872.1_Silent_p.A262A Q6H8Q1 ABLM2_HUMAN actin binding LIM protein family, member 2 262 axon guidance|cytoskeleton organization actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus actin binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1) 25 CTTGTCGACACGCCGGATGCC 0.502000 15 46 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28992950 28992950 + Missense_Mutation SNP A A G TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr18:28992950A>G ENST00000359747.4 + 15 2601 c.2572A>G c.(2572-2574)Aaa>Gaa p.K858E RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.K839E NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 839 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TTTAGATCCAAAATTTAGGAC 0.448000 8 206 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22663087 22663087 + RNA SNP A A G rs1054158 TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr22:22663087A>G ENST00000426066.1 + 0 526 NR_027293.1 GCTGCCACATAAGTTGTCCTT 0.303000 4 42 0 0 1 0 0 IRF8 3394 broad.mit.edu 37 16 85954816 85954816 + Silent SNP C C T TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr16:85954816C>T ENST00000268638.5 + 9 1631 c.1209C>T c.(1207-1209)ttC>ttT p.F403F IRF8_ENST00000562492.1_Silent_p.F199F NM_002163.2 NP_002154.1 Q02556 IRF8_HUMAN interferon regulatory factor 8 403 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 24 Prostate(104;0.0771) ACCAGGTCTTCCGGATGTTTC 0.587000 6 113 0 0 1 0 0 OR4C16 219428 broad.mit.edu 37 11 55339695 55339695 + Missense_Mutation SNP G G A TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr11:55339695G>A ENST00000314634.3 + 1 92 c.92G>A c.(91-93)cGt>cAt p.R31H NM_001004701.2 NP_001004701.2 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene) 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R31H(2)|p.R31L(1) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) ATTTTTTTGCGTCTCTACTTG 0.368000 59 110 0 0 1 0 0 OCLN 100506658 broad.mit.edu 37 5 68849441 68849441 + Missense_Mutation SNP G G C rs140334684 by1000genomes TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr5:68849441G>C ENST00000355237.2 + 9 1948 c.1512G>C c.(1510-1512)aaG>aaC p.K504N OCLN_ENST00000538151.1_Missense_Mutation_p.K253N|OCLN_ENST00000396442.2_Missense_Mutation_p.K504N|OCLN_ENST00000380766.2_Missense_Mutation_p.K450N|OCLN_ENST00000542132.1_Missense_Mutation_p.K182N|OCLN_ENST00000514370.1_3'UTR NM_002538.3 NP_002529.1 Q16625 OCLN_HUMAN occludin 504 cellular component disassembly involved in apoptosis|protein complex assembly integral to membrane|tight junction protein binding|structural molecule activity endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1) 6 Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174) AGCAGTTAAAGAGCAAATTGT 0.348000 5 72 0 0 1 0 0 GPR125 166647 broad.mit.edu 37 4 22390725 22390725 + Silent SNP C C T TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr4:22390725C>T ENST00000334304.5 - 18 2978 c.2709G>A c.(2707-2709)cgG>cgA p.R903R GPR125_ENST00000282943.5_5'UTR NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 903 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity p.R903R(1) breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) GTGCGTTTGGCCGACTGCCGT 0.418000 5 384 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 5 315 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 3 81 0 0 1 0 0 STPG2 285555 broad.mit.edu 37 4 98902451 98902451 + Missense_Mutation SNP A A T TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr4:98902451A>T ENST00000295268.3 - 6 720 c.631T>A c.(631-633)Tca>Aca p.S211T NM_174952.2 NP_777612.1 sperm-tail PG-rich repeat containing 2 GGGGTGATTGATTTCATAGGT 0.363000 34 88 0 0 1 0 0 SNAP91 9892 broad.mit.edu 37 6 84366496 84366496 + Missense_Mutation SNP T T C TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr6:84366496T>C ENST00000428679.2 - 7 1228 c.635A>G c.(634-636)aAt>aGt p.N212S SNAP91_ENST00000437520.1_Missense_Mutation_p.N212S|SNAP91_ENST00000521743.1_Missense_Mutation_p.N212S|SNAP91_ENST00000195649.6_Missense_Mutation_p.N212S|SNAP91_ENST00000521485.1_Missense_Mutation_p.N212S|SNAP91_ENST00000439399.2_Missense_Mutation_p.N212S|SNAP91_ENST00000520302.1_Missense_Mutation_p.N212S|SNAP91_ENST00000369694.2_Missense_Mutation_p.N212S|SNAP91_ENST00000520213.1_Missense_Mutation_p.N212S O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa 212 clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) AACACCATCATTGTAGCAAGC 0.383000 3 22 0 0 1 0 0 CCDC6 8030 broad.mit.edu 37 10 61564190 61564190 + Missense_Mutation SNP G G A TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr10:61564190G>A ENST00000263102.6 - 7 1324 c.1093C>T c.(1093-1095)Cct>Tct p.P365S NM_005436.4 NP_005427.2 Q16204 CCDC6_HUMAN coiled-coil domain containing 6 365 cytoplasm|cytoskeleton SH3 domain binding|structural constituent of cytoskeleton CCDC6/RET(4) breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1) 18 Kidney(211;0.0597) GGTGATATAGGCCTGCTTGAA 0.458000 T RET NSCLC 32 68 0 0 1 0 0 PARP16 54956 broad.mit.edu 37 15 65563325 65563325 + Missense_Mutation SNP C C T TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr15:65563325C>T ENST00000261888.6 - 2 705 c.260G>A c.(259-261)aGc>aAc p.S87N PARP16_ENST00000558873.1_5'UTR|PARP16_ENST00000444347.2_Intron NM_017851.4 NP_060321.3 Q8N5Y8 PAR16_HUMAN poly (ADP-ribose) polymerase family, member 16 87 PARP catalytic. integral to membrane NAD+ ADP-ribosyltransferase activity kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 9 TAAAATCCAGCTCACCAGGTC 0.532000 5 445 0 0 1 0 0 ABCC3 8714 broad.mit.edu 37 17 48755185 48755185 + Silent SNP G G A TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr17:48755185G>A ENST00000285238.8 + 24 3539 c.3459G>A c.(3457-3459)gaG>gaA p.E1153E NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 1153 ABC transmembrane type-1 2. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) ACTTTTCGGAGACAGTGACTG 0.547000 6 315 0 0 1 0 0 STAG1 10274 broad.mit.edu 37 3 136240172 136240172 + Nonsense_Mutation SNP G G A TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr3:136240172G>A ENST00000383202.2 - 7 815 c.559C>T c.(559-561)Cga>Tga p.R187* STAG1_ENST00000236698.5_Nonsense_Mutation_p.R187*|STAG1_ENST00000480733.1_Nonsense_Mutation_p.R187*|STAG1_ENST00000434713.2_5'UTR NM_005862.2 NP_005853.2 Q8WVM7 STAG1_HUMAN stromal antigen 1 187 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding p.R187*(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 TGACACTGTCGAATCAGGACT 0.398000 4 196 0 0 1 0 0 ITGB4 3691 broad.mit.edu 37 17 73725516 73725516 + Splice_Site SNP C C T TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr17:73725516C>T ENST00000200181.3 + 7 924 c.738_splice c.e7+1 p.T246_splice ITGB4_ENST00000450894.3_Splice_Site_p.T246_splice|ITGB4_ENST00000449880.2_Splice_Site_p.T246_splice|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Splice_Site_p.T246_splice|ITGB4_ENST00000579662.1_Splice_Site_p.T246_splice NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 246 VWFA. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GCTGTGTGCACGGTGGGCACT 0.637000 8 18 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235929502 235929502 + Missense_Mutation SNP G G A TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr1:235929502G>A ENST00000389794.3 - 21 6172 c.5998C>T c.(5998-6000)Ctt>Ttt p.L2000F LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.L2000F Q99698 LYST_HUMAN lysosomal trafficking regulator 2000 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) GGAGATCCAAGGACTTCTGCT 0.378000 111 236 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276640 186276640 + Missense_Mutation SNP A A C TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr1:186276640A>C ENST00000445192.2 + 7 1834 c.1789A>C c.(1789-1791)Acc>Ccc p.T597P PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.T556P|PRG4_ENST00000367486.3_Missense_Mutation_p.T554P|PRG4_ENST00000367485.4_Missense_Mutation_p.T504P NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 597 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T597P(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 ACCCACCACCACCAAGAAGCC 0.652000 6 81 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 13357011 13357011 + Silent SNP G G A TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr8:13357011G>A ENST00000276297.4 - 2 979 c.570C>T c.(568-570)agC>agT p.S190S DLC1_ENST00000316609.5_Silent_p.S190S|DLC1_ENST00000511869.1_Silent_p.S190S NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 190 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 AAAGCTCCAGGCTTTTACTTA 0.383000 7 281 0 0 1 0 0 SLC7A1 6541 broad.mit.edu 37 13 30091751 30091751 + Missense_Mutation SNP T T C TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr13:30091751T>C ENST00000380752.5 - 10 1855 c.1469A>G c.(1468-1470)aAa>aGa p.K490R SLC7A1_ENST00000473577.1_5'UTR NM_003045.4 NP_003036.1 P30825 CTR1_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 490 cellular nitrogen compound metabolic process|ion transport integral to plasma membrane receptor activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2) 24 Lung SC(185;0.0257)|Breast(139;0.238) all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) CCCAGAGATTTTGGAAGGCTC 0.473000 90 86 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803276 142803278 + RNA DEL AAC AAC - TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr1:142803276_142803278delAAC ENST00000423385.1 - 0 1687_1689 ACCAAACCAAaacaacaacaaca 0.345 5 5 --- --- --- --- MCC 4163 broad.mit.edu 37 5 112824048 112824049 + In_Frame_Ins INS - - GCC rs35336557 TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr5:112824048_112824049insGCC ENST00000408903.3 - 1 478_479 c.63_64insGGC c.(61-66)gggcgg>ggGGCgcgg p.21_22GR>GAR NM_001085377.1 NP_001078846.1 P23508 CRCM_HUMAN mutated in colorectal cancers 549 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) ctgctgccgctgccgccgccgc 0.738 14 16 --- --- --- --- TOX4 9878 broad.mit.edu 37 14 21961060 21961062 + In_Frame_Del DEL GCT GCT - TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr14:21961060_21961062delGCT ENST00000405508.1 + 8 1561_1563 c.1285_1287delGCT c.(1285-1287)del p.A434del TOX4_ENST00000448790.2_In_Frame_Del_p.A411del|TOX4_ENST00000262709.3_In_Frame_Del_p.A434del O94842 TOX4_HUMAN TOX high mobility group box family member 4 434 Gln/Pro-rich.|Poly-Ala. chromatin|nucleus|PTW/PP1 phosphatase complex DNA binding|protein binding p.A429A(1) large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) GGCAGCAGCAGCTGCTGCTGCTG 0.581 7 285 --- --- --- --- MED9 55090 broad.mit.edu 37 17 17394705 17394707 + In_Frame_Del DEL CAG CAG - TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr17:17394705_17394707delCAG ENST00000268711.3 + 2 393_395 c.337_339delCAG c.(337-339)del p.Q117del NM_018019.2 NP_060489.1 Q9NWA0 MED9_HUMAN mediator complex subunit 9 117 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent protein binding cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GAGCCCCGAACAGCAGCAGCAGC 0.581 7 196 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr17:45219612delA ENST00000066544.3 - 11 1454 c.1361delT c.(1360-1362)cafs p.L454fs CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 454 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TGCTTTTTGTAGATTAAAGGC 0.308 9 74 --- --- --- --- PSG7 5676 broad.mit.edu 37 19 43440068 43440069 + RNA DEL AC AC - rs72310923 TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr19:43440068_43440069delAC ENST00000446844.3 - 0 154 PSG7_ENST00000406070.2_RNA Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) acacacacaaacacacacacac 0.495 7 12 --- --- --- --- AP001347.6 0 broad.mit.edu 37 21 15436915 15436915 + RNA DEL G G - TCGA-QH-A6CY-01A-11D-A32B-08 TCGA-QH-A6CY-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx e810c032-3bcd-4baf-9e72-58ef00fb0ac7 27e7dbae-bfb7-4634-98cd-9f4211d864d6 g.chr21:15436915delG ENST00000428809.1 + 0 177 CCCCTGGGACGGGGGCCTTGG 0.687 4 7 --- --- --- ---