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 WWOX 51741 broad.mit.edu 37 16 78458905 78458905 + Silent SNP C C T TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr16:78458905C>T ENST00000566780.1 + 7 1110 c.744C>T c.(742-744)tgC>tgT p.C248C WWOX_ENST00000539474.2_Intron|WWOX_ENST00000406884.2_Intron|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000408984.3_Silent_p.C248C NM_016373.2 NP_057457.1 Q9NZC7 WWOX_HUMAN WW domain containing oxidoreductase 248 Interaction with MAPT (By similarity).|Mediates targeting to the mitochondria (By similarity). apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway Golgi apparatus|mitochondrion|nucleus coenzyme binding|oxidoreductase activity|protein dimerization activity p.C248C(1)|p.A91V(1) large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 7 all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167) UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232) ATGTTTTGTGCCGCTCAGCTC 0.507000 5 181 0 0 1 0 0 PARK2 5071 broad.mit.edu 37 6 161781238 161781238 + Splice_Site SNP C C T TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr6:161781238C>T ENST00000366898.1 - 11 1270 c.e11-1 PARK2_ENST00000338468.3_Splice_Site|PARK2_ENST00000366894.1_Splice_Site|PARK2_ENST00000366896.1_Splice_Site|PARK2_ENST00000366897.1_Splice_Site NM_004562.2 NP_004553.2 O60260 PRKN2_HUMAN parkin RBR E3 ubiquitin protein ligase aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) CTCTGTAGGCCTGGGGAAACA 0.507000 5 116 0 0 1 0 0 OMA1 115209 broad.mit.edu 37 1 58999969 58999969 + Missense_Mutation SNP T T C TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr1:58999969T>C ENST00000371226.3 - 4 877 c.764A>G c.(763-765)gAg>gGg p.E255G OMA1_ENST00000358603.2_Missense_Mutation_p.E255G|DAB1_ENST00000485760.1_Intron|OMA1_ENST00000467063.1_5'UTR NM_145243.3 NP_660286.1 Q96E52 OMA1_HUMAN OMA1 zinc metallopeptidase 255 proteolysis integral to membrane|mitochondrial membrane metal ion binding|metalloendopeptidase activity NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1) 18 all_cancers(7;6.54e-05) GGCATCTTTCTCAGTTAGCAT 0.338000 19 3 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152187080 152187080 + Missense_Mutation SNP C C A TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr1:152187080C>A ENST00000368801.2 - 3 7100 c.7025G>T c.(7024-7026)gGt>gTt p.G2342V FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2342 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCGTGGTGACCAAATCCAGA 0.577000 12 1126 0.000673444 0.000729564 1 1 0 PTK2B 2185 broad.mit.edu 37 8 27310644 27310644 + Silent SNP G G A TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr8:27310644G>A ENST00000397501.1 + 33 3370 c.2562G>A c.(2560-2562)ggG>ggA p.G854G PTK2B_ENST00000544172.1_Silent_p.G854G|PTK2B_ENST00000517339.1_Silent_p.G812G|PTK2B_ENST00000338238.4_Silent_p.G812G|PTK2B_ENST00000420218.2_Silent_p.G812G|PTK2B_ENST00000346049.5_Silent_p.G854G NM_173174.2 NP_775266.1 Q14289 FAK2_HUMAN protein tyrosine kinase 2 beta 854 Interaction with TGFB1I1 (By similarity).|Pro-rich. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) AGTTCACAGGGCCCCCACAGA 0.542000 39 58 0 0 1 0 0 DOCK11 139818 broad.mit.edu 37 X 117752578 117752578 + Missense_Mutation SNP C C A TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chrX:117752578C>A ENST00000276204.6 + 31 3432 c.3358C>A c.(3358-3360)Ctg>Atg p.L1120M DOCK11_ENST00000276202.7_Missense_Mutation_p.L1120M Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1120 blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 TGGTCTACTTCTGAGGGAAAC 0.333000 4 101 0.00909568 0.00945951 1 1 0 ACSM5 54988 broad.mit.edu 37 16 20435257 20435257 + Missense_Mutation SNP G G A TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr16:20435257G>A ENST00000331849.4 + 6 934 c.787G>A c.(787-789)Gaa>Aaa p.E263K NM_017888.2 NP_060358.2 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 263 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 GGCCTTGACCGAATCTGACAT 0.458000 4 153 0 0 1 0 0 CTAG2 30848 broad.mit.edu 37 X 153881577 153881577 + Silent SNP C C T rs140132753 TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chrX:153881577C>T ENST00000247306.4 - 1 276 c.213G>A c.(211-213)gcG>gcA p.A71A CTAG2_ENST00000369585.3_Silent_p.A71A NM_020994.3 NP_066274.1 O75638 CTAG2_HUMAN cancer/testis antigen 2 71 Gly-rich. centrosome central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1) 10 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TTCCATCCTGCGCAGAAGCGG 0.711000 19 57 0 0 1 0 0 MSMO1 6307 broad.mit.edu 37 4 166263064 166263064 + Missense_Mutation SNP A A G TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr4:166263064A>G ENST00000261507.6 + 6 1021 c.848A>G c.(847-849)gAa>gGa p.E283G MSMO1_ENST00000393766.2_Missense_Mutation_p.E152G NM_006745.4 NP_006736.1 Q15800 ERG25_HUMAN methylsterol monooxygenase 1 283 cholesterol biosynthetic process|fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane C-4 methylsterol oxidase activity|iron ion binding NADH(DB00157) GCCTATAATGAAAAGAGGAAG 0.343000 24 27 0 0 1 0 0 CLUH 23277 broad.mit.edu 37 17 2595751 2595751 + Missense_Mutation SNP C C T TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr17:2595751C>T ENST00000570628.1 - 22 3452 c.3347G>A c.(3346-3348)gGg>gAg p.G1116E CLUH_ENST00000435359.1_Missense_Mutation_p.G1116E|CLUH_ENST00000575014.1_Missense_Mutation_p.G1049E|CLUH_ENST00000538975.1_Missense_Mutation_p.G1116E clustered mitochondria (cluA/CLU1) homolog CTCCATCACCCCGTGCAGCAC 0.701000 11 51 0 0 1 0 0 RNF17 56163 broad.mit.edu 37 13 25399896 25399896 + Missense_Mutation SNP G G A TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr13:25399896G>A ENST00000255324.5 + 16 2283 c.2231G>A c.(2230-2232)cGa>cAa p.R744Q RNF17_ENST00000381921.1_Missense_Mutation_p.R744Q NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 744 Tudor 1. multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) ATTTGGTACCGAGCAAAAGTT 0.378000 17 81 0 0 1 0 0 B4GALNT3 283358 broad.mit.edu 37 12 657235 657235 + Missense_Mutation SNP G G C TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr12:657235G>C ENST00000266383.5 + 8 766 c.753G>C c.(751-753)caG>caC p.Q251H B4GALNT3_ENST00000544638.1_3'UTR NM_173593.3 NP_775864.3 Q6L9W6 B4GN3_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 3 251 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) TGCACAAGCAGAATGAGGAGG 0.622000 20 29 0 0 1 0 0 B4GALNT3 283358 broad.mit.edu 37 12 665815 665815 + Silent SNP C C T rs150429681 byFrequency TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr12:665815C>T ENST00000266383.5 + 15 2176 c.2163C>T c.(2161-2163)cgC>cgT p.R721R NM_173593.3 NP_775864.3 Q6L9W6 B4GN3_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 3 721 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) AAGGCCAGCGCGTGGTGCGGC 0.622000 38 55 0 0 1 0 0 MST1 4485 broad.mit.edu 37 3 49723545 49723545 + Missense_Mutation SNP G G A rs4052562 TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr3:49723545G>A ENST00000449682.2 - 9 1458 c.1097C>T c.(1096-1098)gCg>gTg p.A366V MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 352 proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GCAAAAGGCCGCGCGCATGCC 0.667000 4 38 0 0 1 0 0 NTRK1 4914 broad.mit.edu 37 1 156841489 156841489 + Silent SNP G G A TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr1:156841489G>A ENST00000368196.3 + 7 912 c.792G>A c.(790-792)acG>acA p.T264T NTRK1_ENST00000392302.2_Silent_p.T234T|NTRK1_ENST00000524377.1_Silent_p.T264T|NTRK1_ENST00000358660.3_Silent_p.T264T NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 264 Ig-like C2-type 1. activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) AGAACGTGACGTGCTGGGCAG 0.592000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 9 108 0 0 1 0 0 ARR3 407 broad.mit.edu 37 X 69500075 69500075 + Silent SNP G G T TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chrX:69500075G>T ENST00000374495.3 + 13 1034 c.936G>T c.(934-936)ctG>ctT p.L312L ARR3_ENST00000307959.8_Silent_p.L312L P36575 ARRC_HUMAN arrestin 3, retinal (X-arrestin) 312 signal transduction|visual perception cytoplasm|soluble fraction endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1) 16 AAGAGCTGCTGGGGATCCTGG 0.502000 51 79 2.84144e-21 3.28344e-21 1 1 0 FASN 2194 broad.mit.edu 37 17 80051592 80051592 + Silent SNP G G A TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr17:80051592G>A ENST00000306749.2 - 4 554 c.336C>T c.(334-336)agC>agT p.S112S NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 112 Beta-ketoacyl synthase (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) TCTCAGAGCCGCTCACGCCCA 0.657000 36 59 0 0 1 0 0 CCDC27 148870 broad.mit.edu 37 1 3677958 3677958 + Silent SNP C C G TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr1:3677958C>G ENST00000294600.2 + 5 909 c.825C>G c.(823-825)ggC>ggG p.G275G NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 275 breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) TTCTGAAAGGCAAAGGCCAAG 0.567000 4 53 0 0 1 0 0 GEMIN4 50628 broad.mit.edu 37 17 650531 650531 + Missense_Mutation SNP G G A TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr17:650531G>A ENST00000576778.1 - 1 2060 c.719C>T c.(718-720)gCg>gTg p.A240V GEMIN4_ENST00000319004.5_Missense_Mutation_p.A251V|GEMIN4_ENST00000437269.1_Intron P57678 GEMI4_HUMAN gem (nuclear organelle) associated protein 4 251 rRNA processing|spliceosomal snRNP assembly Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 Myeloproliferative disorder(207;0.204) UCEC - Uterine corpus endometrioid carcinoma (25;0.022) CTCTGTCAGCGCAAACACAGT 0.607000 6 195 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 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 27 37 0 0 1 0 0 BEGAIN 57596 broad.mit.edu 37 14 101005290 101005290 + Silent SNP C C T TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr14:101005290C>T ENST00000556751.1 - 5 4010 c.606G>A c.(604-606)gcG>gcA p.A202A BEGAIN_ENST00000443071.2_Silent_p.A266A|BEGAIN_ENST00000355173.2_Silent_p.A266A|CTD-2062F14.3_ENST00000553301.1_lincRNA Q9BUH8 BEGIN_HUMAN brain-enriched guanylate kinase-associated 266 cytoplasm|membrane protein binding cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1) 14 Melanoma(154;0.212) CCTCCTCGGCCGCGCTGTCAG 0.726000 11 27 0 0 1 0 0 IL1RL1 9173 broad.mit.edu 37 2 102959762 102959762 + Missense_Mutation SNP T T A TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr2:102959762T>A ENST00000311734.2 + 8 1196 c.857T>A c.(856-858)gTt>gAt p.V286D IL1RL1_ENST00000404917.2_Missense_Mutation_p.V169D|IL1RL1_ENST00000233954.1_Missense_Mutation_p.V286D|IL1RL1_ENST00000409584.1_Missense_Mutation_p.V272D Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 286 Ig-like C2-type 3. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 CTAGACATGGTTTTAAGAATA 0.453000 45 130 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1264405 1264405 + Missense_Mutation SNP A A C TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr11:1264405A>C ENST00000447027.1 + 31 6362 c.6304A>C c.(6304-6306)Acc>Ccc p.T2102P RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.T2099P Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2099 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. A -> P (in Ref. 4; CAA96577). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCCGGGGACCACCCACACCGC 0.632000 12 19 0 0 1 0 0 KANK1 23189 broad.mit.edu 37 9 732477 732477 + Silent SNP G G A TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr9:732477G>A ENST00000382303.1 + 10 3757 c.3105G>A c.(3103-3105)gaG>gaA p.E1035E KANK1_ENST00000382297.2_Silent_p.E1035E|KANK1_ENST00000382293.3_Silent_p.E877E|KANK1_ENST00000489369.1_3'UTR NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 1035 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) TTGAAGAAGAGGAGGAGGAGG 0.468000 4 139 0 0 1 0 0 DLG5 9231 broad.mit.edu 37 10 79601943 79601943 + Missense_Mutation SNP G G A TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr10:79601943G>A ENST00000372391.2 - 7 1138 c.1133C>T c.(1132-1134)gCg>gTg p.A378V DLG5_ENST00000372388.2_Missense_Mutation_p.A378V NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 378 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) ATGGTGGATCGCCTCAAACCT 0.652000 53 60 0 0 1 0 0 ZNF587 84914 broad.mit.edu 37 19 58370971 58370971 + Missense_Mutation SNP C C A TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr19:58370971C>A ENST00000339656.5 + 3 1373 c.1191C>A c.(1189-1191)caC>caA p.H397Q ZNF587_ENST00000423137.1_Missense_Mutation_p.H396Q|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF587_ENST00000419854.1_Missense_Mutation_p.H354Q|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron NM_001204817.1|NM_032828.3 NP_001191746.1|NP_116217.1 Q96SQ5 ZN587_HUMAN zinc finger protein 587 397 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264) ACCTCGTTCACCATCAGCGAG 0.463000 4 126 0.000602214 0.00066628 1 1 0 CHRND 1144 broad.mit.edu 37 2 233393356 233393356 + Missense_Mutation SNP C C T TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr2:233393356C>T ENST00000258385.3 + 5 531 c.499C>T c.(499-501)Ctc>Ttc p.L167F CHRND_ENST00000536614.1_Missense_Mutation_p.L167F|CHRND_ENST00000543200.1_Missense_Mutation_p.L152F|CHRND_ENST00000457943.2_Silent_p.P76P NM_000751.2 NP_000742.1 Q07001 ACHD_HUMAN cholinergic receptor, nicotinic, delta (muscle) 167 muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1) 34 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) GAACTGCTCCCTCAAGTTCAG 0.592000 4 110 0 0 1 0 0 POLR3K 51728 broad.mit.edu 37 16 97470 97470 + Missense_Mutation SNP T T C TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr16:97470T>C ENST00000293860.5 - 3 328 c.287A>G c.(286-288)aAg>aGg p.K96R NM_016310.3 NP_057394.2 Q9Y2Y1 RPC10_HUMAN polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa 96 innate immune response|response to virus|transcription from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|zinc ion binding central_nervous_system(1)|large_intestine(1)|skin(1) 3 all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239) ATTGCAGCACTTGTAGAAGGT 0.557000 44 61 0 0 1 0 0 TAF1 6872 broad.mit.edu 37 X 70679529 70679529 + Missense_Mutation SNP G G T TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chrX:70679529G>T ENST00000449580.1 + 37 5342 c.5291G>T c.(5290-5292)aGt>aTt p.S1764I TAF1_ENST00000373790.4_Missense_Mutation_p.S1730I|TAF1_ENST00000423759.1_Missense_Mutation_p.S1753I|TAF1_ENST00000461764.1_3'UTR|TAF1_ENST00000276072.3_Missense_Mutation_p.S1751I P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 1730 Asp/Glu-rich (acidic tail).|Protein kinase 2. G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) GATGCTGGGAGTGATGAAGAA 0.468000 5 124 0.00116845 0.00123998 1 1 0 EYA2 2139 broad.mit.edu 37 20 45644820 45644820 + Splice_Site SNP G G A TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr20:45644820G>A ENST00000327619.5 + 5 673 c.298_splice c.e5-1 p.S100_splice EYA2_ENST00000317304.6_Splice_Site_p.S100_splice|EYA2_ENST00000357410.3_Splice_Site_p.S100_splice NM_005244.4 NP_005235.3 O00167 EYA2_HUMAN eyes absent homolog 2 (Drosophila) 100 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) TCCTTCAAAGGCATCAAGACA 0.507000 6 156 0 0 1 0 0 IGHA2 0 broad.mit.edu 37 14 106053406 106053406 + RNA SNP G G T TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr14:106053406G>T ENST00000390539.2 - 0 890 TGCAGGAGAAGGTCTCCCCCT 0.622000 3 34 0.00024832 0.00028071 1 1 0 MST1 4485 broad.mit.edu 37 3 49723542 49723542 + Missense_Mutation SNP G G C rs2087732 TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr3:49723542G>C ENST00000449682.2 - 9 1461 c.1100C>G c.(1099-1101)gCc>gGc p.A367G MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 353 proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GTAGCAAAAGGCCGCGCGCAT 0.672000 3 43 0 0 1 0 0 SLC19A3 80704 broad.mit.edu 37 2 228560683 228560683 + Missense_Mutation SNP T T A TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr2:228560683T>A ENST00000258403.3 - 4 1165 c.1094A>T c.(1093-1095)tAc>tTc p.Y365F SLC19A3_ENST00000541617.1_Missense_Mutation_p.Y361F|SLC19A3_ENST00000409287.1_Intron NM_025243.3 NP_079519.1 Q9BZV2 S19A3_HUMAN solute carrier family 19 (thiamine transporter), member 3 365 thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3) 30 Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236) Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125) L-Cysteine(DB00151) ATTGGCTGTGTAATGCATGAG 0.443000 4 121 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80770981 80770981 + Splice_Site SNP C C A TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr12:80770981C>A ENST00000458043.2 + 57 6839 c.6834_splice c.e57+1 p.P2278_splice OTOGL_ENST00000546620.1_Splice_Site_p.P297_splice|OTOGL_ENST00000547103.1_Splice_Site_p.P2266_splice NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 AGCCAAAGCCCTGTAAGTGGA 0.353000 3 38 1 1 1 1 0 GGT3P 0 broad.mit.edu 37 22 18778603 18778603 + RNA SNP C C T TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr22:18778603C>T ENST00000412448.1 - 0 802 TTGGCATCCGCGGCCACGGCA 0.627000 3 26 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109365585 109365585 + Splice_Site SNP G G T TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr2:109365585G>T ENST00000283195.6 + 9 1399 c.1273_splice c.e9+1 p.G425_splice NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 425 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding p.G425C(2) RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 ATACGATGTTGGTAAGTTATA 0.343000 4 191 0.014758 0.0150474 1 1 0 PCSK5 5125 broad.mit.edu 37 9 78790119 78790119 + Silent SNP A A G TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr9:78790119A>G ENST00000376767.3 + 14 2486 c.1974A>G c.(1972-1974)agA>agG p.R658R PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 0 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 GGGAgaacagaatggaatgga 0.443000 15 22 0 0 1 0 0 TFCP2L1 29842 broad.mit.edu 37 2 122005806 122005806 + Silent SNP G G A TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr2:122005806G>A ENST00000263707.5 - 5 535 c.438C>T c.(436-438)agC>agT p.S146S NM_014553.2 NP_055368.1 Q9NZI6 TF2L1_HUMAN transcription factor CP2-like 1 146 female pregnancy|steroid biosynthetic process mitochondrion|nucleolus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1) 22 Renal(3;0.01) GCTGGGTCGGGCTGGCCCTGG 0.527000 3 35 0 0 1 0 0 OR1S2 219958 broad.mit.edu 37 11 57970843 57970843 + Missense_Mutation SNP C C T TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr11:57970843C>T ENST00000302592.6 - 1 810 c.811G>A c.(811-813)Gtg>Atg p.V271M NM_001004459.1 NP_001004459.1 Q8NGQ3 OR1S2_HUMAN olfactory receptor, family 1, subfamily S, member 2 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1) 46 Breast(21;0.0589) AAAAAGTACACGCCTACAGTG 0.498000 4 94 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058183 11058183 + RNA SNP G G A TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr21:11058183G>A ENST00000470054.1 - 0 464 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CTTGGTCAATGTGTTCTGGAC 0.398000 4 91 0 0 1 0 0 NR3C2 0 broad.mit.edu 37 4 149075976 149075976 + Silent SNP T T G TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr4:149075976T>G ENST00000355292.3 - 5 2465 c.2103A>C c.(2101-2103)ccA>ccC p.P701P NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000358102.3_Silent_p.P697P|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000511528.1_Silent_p.P701P|NR3C2_ENST00000344721.4_Silent_p.P697P P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 697 Hinge. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) ggggtgggggtgggggtgggg 0.527000 4 14 0 0 1 0 0 STAG3L2 0 broad.mit.edu 37 7 74300557 74300564 + RNA DEL AGAGCTCC AGAGCTCC - TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr7:74300557_74300564delAGAGCTCC ENST00000423186.1 - 0 573_580 P0CL84 ST3L2_HUMAN nucleus binding p.E82fs*32(2) breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1) 5 CGGCCAGTGAAGAGCTCCAGGCGTGCGG 0.572 5 5 --- --- --- --- PMPCB 9512 broad.mit.edu 37 7 102948108 102948109 + Frame_Shift_Del DEL AA AA - rs141254128 TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr7:102948108_102948109delAA ENST00000249269.4 + 7 840_841 c.802_803delAA c.(802-804)afs p.K268fs PMPCB_ENST00000428154.1_Frame_Shift_Del_p.K268fs|PMPCB_ENST00000420236.2_Frame_Shift_Del_p.K163fs NM_004279.2 NP_004270.2 O75439 MPPB_HUMAN peptidase (mitochondrial processing) beta 268 proteolysis mitochondrial matrix metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 ATGCACACACAAAGGAGAAATA 0.396 10 41 --- --- --- --- MAFA 389692 broad.mit.edu 37 8 144511954 144511956 + In_Frame_Del DEL TGG TGG - TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr8:144511954_144511956delTGG ENST00000333480.2 - 1 620_622 c.621_623delCCA c.(619-624)cat>ca p.HH207del MAFA_ENST00000528185.1_5'UTR NM_201589.3 NP_963883.2 Q8NHW3 MAFA_HUMAN v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A 207 His-rich. insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus nucleus protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.H208delH(3) breast(1)|lung(1)|upper_aerodigestive_tract(2) 4 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237) CGCGCCGCCAtggtggtggtggt 0.744 HNSCC(29;0.082) 3 5 --- --- --- --- NOTCH1 4851 broad.mit.edu 37 9 139413070 139413072 + In_Frame_Del DEL AGA AGA - TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr9:139413070_139413072delAGA ENST00000277541.6 - 6 1145_1147 c.1070_1072delTCT c.(1069-1074)tac>t p.FY357del NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 357 EGF-like 9; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.F357delF(4) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CACTCGCAGTAGAAGGAGGCCAC 0.655 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 8 43 --- --- --- --- IGF2 3481 broad.mit.edu 37 11 2154242 2154242 + Frame_Shift_Del DEL G G - rs1050342 TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr11:2154242delG ENST00000416167.2 - 4 1684 c.518delC c.(517-519)cafs p.P173fs IGF2_ENST00000381395.1_Frame_Shift_Del_p.P173fs|IGF2_ENST00000381406.4_Frame_Shift_Del_p.P176fs|IGF2_ENST00000434045.2_Frame_Shift_Del_p.P229fs|IGF2_ENST00000381392.1_Frame_Shift_Del_p.P176fs|IGF2_ENST00000300632.5_Frame_Shift_Del_p.P173fs|IGF2_ENST00000337883.6_Frame_Shift_Del_p.P173fs|IGF2_ENST00000381389.1_Frame_Shift_Del_p.P173fs|IGF2_ENST00000418738.2_Frame_Shift_Del_p.P173fs P01344 IGF2_HUMAN insulin-like growth factor 2 (somatomedin A) 173 P -> Q (in dbSNP:rs1050342). glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development extracellular space growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1) 6 all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029) BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) GGCCATCTCTGGGGGGGCGCC 0.657 7 298 --- --- --- --- RP11-248G5.8 0 broad.mit.edu 37 13 52803642 52803643 + RNA DEL TT TT - TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr13:52803642_52803643delTT ENST00000451298.1 - 0 938 RP11-64P12.8_ENST00000606031.1_RNA CAGTTTTCCCTTTTTTTTTTTT 0.332 2 4 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42791207 42791208 + Frame_Shift_Del DEL AG AG - TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr19:42791207_42791208delAG ENST00000572681.2 + 4 3062_3063 c.2994_2995delAG c.(2992-2997)acggfs p.TG998fs CIC_ENST00000575354.2_Frame_Shift_Del_p.TG89fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.TG89fs Q96RK0 CIC_HUMAN capicua transcriptional repressor 89 Pro-rich. 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) CAGGTGGGACAGGGAGTGCTGA 0.649 """Mis, F, S""" oligodendroglioma 8 102 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42793215 42793218 + Frame_Shift_Del DEL CAGT CAGT - TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr19:42793215_42793218delCAGT ENST00000572681.2 + 8 3902_3905 c.3834_3837delCAGT c.(3832-3837)gafs p.DS1278fs CIC_ENST00000575354.2_Frame_Shift_Del_p.DS369fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.DS369fs Q96RK0 CIC_HUMAN capicua transcriptional repressor 369 Pro-rich. 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) GAGAAGTAGACAGTCAGGCGCTAC 0.667 """Mis, F, S""" oligodendroglioma 28 59 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42796554 42796555 + Frame_Shift_Del DEL TG TG - TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr19:42796554_42796555delTG ENST00000572681.2 + 14 5906_5907 c.5838_5839delTG c.(5836-5841)tctafs p.SV1946fs CIC_ENST00000575354.2_Frame_Shift_Del_p.SV1037fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.SV1037fs Q96RK0 CIC_HUMAN capicua transcriptional repressor 1037 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) CCACGAGCTCTGTAGCTCTAGG 0.703 """Mis, F, S""" oligodendroglioma 11 46 --- --- --- --- RP13-329D4.3 0 broad.mit.edu 37 20 26113543 26113543 + RNA DEL A A - TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr20:26113543delA ENST00000416563.1 - 0 250 TCTTTGCCTTAACAACATTAT 0.363 2 4 --- --- --- --- MYH7B 57644 broad.mit.edu 37 20 33583356 33583358 + In_Frame_Del DEL AGG AGG - TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr20:33583356_33583358delAGG ENST00000262873.7 + 26 3136_3138 c.3044_3046delAGG c.(3043-3048)aag>a p.KE1015del NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 973 membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) AAAGCTGAGAAGGAGAAGCAAGC 0.645 19 29 --- --- --- --- CECR7 0 broad.mit.edu 37 22 17528433 17528434 + RNA INS - - TT TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chr22:17528433_17528434insTT ENST00000441006.1 + 0 1006 NR_015352.1 ACAGTAGTGGCTTTTTTTTCTG 0.446 6 1 --- --- --- --- MAGEA10 4109 broad.mit.edu 37 X 151303906 151303908 + In_Frame_Del DEL AGG AGG - TCGA-HT-8012-01A-11D-2395-08 TCGA-HT-8012-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1731d809-8fde-4539-82ab-4cdf461abb88 c2b420d7-bb63-411d-979d-d5b9bd30ebc3 g.chrX:151303906_151303908delAGG ENST00000370323.4 - 4 501_503 c.185_187delCCT c.(184-189)tgc>t p.SC62del MAGEA10_ENST00000244096.3_In_Frame_Del_p.SC62del|RP11-1007I13.4_ENST00000509345.2_RNA NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 62 Poly-Ser. endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) AGAGGATAGCaggaggaggagga 0.562 7 193 --- --- --- ---