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 TRIM33 51592 broad.mit.edu 37 1 115005788 115005788 + Silent SNP G G A TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr1:115005788G>A ENST00000358465.2 - 4 944 c.861C>T c.(859-861)ttC>ttT p.F287F TRIM33_ENST00000369543.2_Silent_p.F287F|TRIM33_ENST00000450349.2_5'UTR NM_015906.3 NP_056990.3 Q9UPN9 TRI33_HUMAN tripartite motif containing 33 287 negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding p.F287F(2) breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) ATGTTTCACAGAAAAGTTTCA 0.353 T RET papillary thyroid 5 74 --- --- --- --- ITGA10 8515 broad.mit.edu 37 1 145530284 145530284 + Missense_Mutation SNP G G T TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr1:145530284G>T ENST00000369304.3 + 6 674 c.499G>T c.(499-501)Gat>Tat p.D167Y ITGA10_ENST00000539363.1_Missense_Mutation_p.D24Y|ITGA10_ENST00000538811.1_Missense_Mutation_p.D36Y NM_003637.3 NP_003628.2 O75578 ITA10_HUMAN integrin, alpha 10 167 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity p.D167Y(2) NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) AACATACATGGATGTTGTCAT 0.498 7 205 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179426189 179426189 + Missense_Mutation SNP T T G TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr2:179426189T>G ENST00000589042.1 - 326 84894 c.84670A>C c.(84670-84672)Atg>Ctg p.M28224L TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M19351L|TTN_ENST00000591111.1_Missense_Mutation_p.M26583L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M25656L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M19284L|TTN_ENST00000460472.2_Missense_Mutation_p.M19159L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26583 Ig-like 131. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.M19159L(2)|p.M19351L(1)|p.M25656L(1)|p.M19284L(1)|p.M25654L(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TACTCATACATCAGTCCTTCA 0.398 74 149 --- --- --- --- ZIC1 7545 broad.mit.edu 37 3 147128521 147128521 + Missense_Mutation SNP C C A TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr3:147128521C>A ENST00000282928.4 + 1 1351 c.622C>A c.(622-624)Cac>Aac p.H208N NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 208 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.H208N(1) central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 GGCCGCGCATCACGGCGCCGG 0.642 15 64 --- --- --- --- SOD3 6649 broad.mit.edu 37 4 24801303 24801303 + Missense_Mutation SNP G G A TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr4:24801303G>A ENST00000382120.3 + 2 365 c.160G>A c.(160-162)Gac>Aac p.D54N NM_003102.2 NP_003093.2 P08294 SODE_HUMAN superoxide dismutase 3, extracellular 54 removal of superoxide radicals extracellular space|nucleus|soluble fraction copper ion binding|heparin binding|protein binding|superoxide dismutase activity|zinc ion binding p.D54N(1) prostate(1)|urinary_tract(1) 2 Breast(46;0.0503) GCAGCGGCGGGACGACGACGG 0.716 14 8 --- --- --- --- SLCO6A1 133482 broad.mit.edu 37 5 101834316 101834316 + Missense_Mutation SNP G G A TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr5:101834316G>A ENST00000506729.1 - 1 404 c.233C>T c.(232-234)cCg>cTg p.P78L SLCO6A1_ENST00000513675.1_Missense_Mutation_p.P78L|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.P78L|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.P78L|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.P78L Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 78 KPG -> NRE (in Ref. 1; AAP33048). integral to membrane|plasma membrane transporter activity p.P78L(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) CACTTCTCCCGGCTTCTTGGA 0.488 55 242 --- --- --- --- DCDC2 51473 broad.mit.edu 37 6 24357720 24357720 + Missense_Mutation SNP C C T TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr6:24357720C>T ENST00000378454.3 - 1 560 c.259G>A c.(259-261)Gtg>Atg p.V87M KAAG1_ENST00000274766.1_5'UTR NM_001195610.1|NM_016356.3 NP_001182539.1|NP_057440.2 Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 87 Doublecortin 1. cellular defense response|intracellular signal transduction|neuron migration p.V87M(1) breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 Ovarian(999;0.101) CCTCCAGCCACGTAATTGCCC 0.587 40 105 --- --- --- --- KIFC1 3833 broad.mit.edu 37 6 33377450 33377450 + Nonsense_Mutation SNP C C T TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr6:33377450C>T ENST00000428849.2 + 11 2455 c.2005C>T c.(2005-2007)Cag>Tag p.Q669* NM_002263.3 NP_002254.2 Q9BW19 KIFC1_HUMAN kinesin family member C1 669 blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity p.Q669*(2) endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 13 TGGTACTGCTCAGGCCAACAG 0.483 39 259 --- --- --- --- FBXL4 26235 broad.mit.edu 37 6 99323344 99323344 + Missense_Mutation SNP T T G TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr6:99323344T>G ENST00000369244.2 - 9 2077 c.1649A>C c.(1648-1650)gAc>gCc p.D550A FBXL4_ENST00000229971.1_Missense_Mutation_p.D550A NM_001278716.1 NP_001265645.1 Q9UKA2 FBXL4_HUMAN F-box and leucine-rich repeat protein 4 550 ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex p.D550A(1) central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2) 18 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0413) TTCATCAATGTCTGTGTCACA 0.413 46 121 --- --- --- --- BBS9 27241 broad.mit.edu 37 7 33573723 33573723 + Missense_Mutation SNP T T C TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr7:33573723T>C ENST00000242067.6 + 21 2977 c.2456T>C c.(2455-2457)tTa>tCa p.L819S BBS9_ENST00000354265.4_Missense_Mutation_p.L784S|BBS9_ENST00000396127.2_Missense_Mutation_p.L784S|BBS9_ENST00000355070.2_Missense_Mutation_p.L814S|BBS9_ENST00000350941.3_Missense_Mutation_p.L779S NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 819 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding p.L819S(2) BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) TGCGATAGATTATCCAAAGGT 0.493 Bardet-Biedl syndrome 45 86 --- --- --- --- TMEM243 79161 broad.mit.edu 37 7 86848787 86848787 + Silent SNP G G A TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr7:86848787G>A ENST00000433078.1 - 2 474 c.33C>T c.(31-33)acC>acT p.T11T TMEM243_ENST00000423734.1_Silent_p.T11T|TMEM243_ENST00000257637.3_Silent_p.T11T transmembrane protein 243, mitochondrial p.T11T(1) CCAGGCCACTGGTGCCGTAGG 0.572 16 68 --- --- --- --- KIF18A 81930 broad.mit.edu 37 11 28058051 28058051 + Silent SNP A A G TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr11:28058051A>G ENST00000263181.6 - 14 2399 c.2109T>C c.(2107-2109)atT>atC p.I703I NM_031217.3 NP_112494.3 Q8NI77 KI18A_HUMAN kinesin family member 18A 703 blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding p.I703I(1) breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 36 GTGTATATACAATAGGCTGAA 0.383 48 191 --- --- --- --- CABP4 57010 broad.mit.edu 37 11 67223061 67223061 + Missense_Mutation SNP G G A TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr11:67223061G>A ENST00000325656.5 + 1 244 c.167G>A c.(166-168)gGc>gAc p.G56D CABP4_ENST00000438189.2_Intron|CABP4_ENST00000542025.2_3'UTR NM_145200.3 NP_660201.1 P57796 CABP4_HUMAN calcium binding protein 4 56 visual perception cytoplasm|extracellular region|terminal button calcium ion binding p.G56D(1) central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) AAGCGCACTGGCAGCTCTGGG 0.687 13 9 --- --- --- --- FUT8 2530 broad.mit.edu 37 14 66208993 66208993 + Silent SNP G G C TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr14:66208993G>C ENST00000360689.5 + 11 3320 c.1593G>C c.(1591-1593)gtG>gtC p.V531V FUT8_ENST00000557164.1_Silent_p.V368V|FUT8_ENST00000417683.1_Silent_p.V125V|FUT8_ENST00000394585.1_Silent_p.V531V|FUT8_ENST00000394586.2_Silent_p.V531V|FUT8_ENST00000358307.2_Silent_p.V402V NM_004480.4|NM_178155.2 NP_004471.4|NP_835368.1 Q9BYC5 FUT8_HUMAN fucosyltransferase 8 (alpha (1,6) fucosyltransferase) 531 SH3. in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding p.V531V(2) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) TCATTGGTGTGGCTGGAAATC 0.463 20 181 --- --- --- --- NBEAP1 606 broad.mit.edu 37 15 20874901 20874901 + RNA SNP G G A TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr15:20874901G>A ENST00000556948.1 - 0 347 TTCTGCATATGGTGGTGTAGA 0.333 3 67 --- --- --- --- AKAP8L 26993 broad.mit.edu 37 19 15512380 15512380 + Missense_Mutation SNP C C T TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr19:15512380C>T ENST00000397410.5 - 5 527 c.397G>A c.(397-399)Gtc>Atc p.V133I AKAP8L_ENST00000595465.2_Missense_Mutation_p.V72I NM_014371.2 NP_055186.2 Q9ULX6 AKP8L_HUMAN A kinase (PRKA) anchor protein 8-like cytoplasm|nuclear matrix DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding p.V133I(2) central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 TCACTCAGGACGGCCCTCGAG 0.592 5 23 --- --- --- --- CYP4F2 8529 broad.mit.edu 37 19 16003198 16003198 + Missense_Mutation SNP C C T rs140630977 TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr19:16003198C>T ENST00000221700.6 - 5 541 c.446G>A c.(445-447)cGg>cAg p.R149Q CYP4F2_ENST00000011989.7_5'UTR NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding p.R149Q(2) NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 CGTCAGCATCCGACGGTGGCG 0.567 27 131 --- --- --- --- ETV3 2117 broad.mit.edu 37 1 157104016 157104017 + Frame_Shift_Ins INS - - T TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr1:157104016_157104017insT ENST00000368192.4 - 4 351_352 c.287_288insA c.(286-288)tacfs p.Y96fs ETV3_ENST00000326786.4_Frame_Shift_Ins_p.Y96fs NM_001145312.1 NP_001138784.1 P41162 ETV3_HUMAN ets variant 3 96 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2) 9 Hepatocellular(266;0.158) Prostate(1639;0.174) TGTTGTAATAGTATCTGTAAAA 0.371 46 39 --- --- --- --- DHFR 1719 broad.mit.edu 37 5 79945228 79945232 + Frame_Shift_Del DEL TAAAT TAAAT - TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr5:79945228_79945232delTAAAT ENST00000439211.2 - 3 711_715 c.218_222delATTTA c.(217-222)aatttafs p.NL73fs DHFR_ENST00000504396.1_Frame_Shift_Del_p.NL21fs|DHFR_ENST00000505337.1_Frame_Shift_Del_p.NL73fs|DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000511032.1_Frame_Shift_Del_p.NL73fs NM_000791.3 NP_000782.1 P00374 DYR_HUMAN dihydrofolate reductase 73 DHFR. folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process cytosol dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding kidney(1)|large_intestine(1) 2 Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35) Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157) TGCTGAGAACTAAATTAATTCTACC 0.332 23 74 --- --- --- --- NOL8 55035 broad.mit.edu 37 9 95069196 95069199 + Frame_Shift_Del DEL TGTT TGTT - TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr9:95069196_95069199delTGTT ENST00000545558.1 - 11 3286_3289 c.2794_2797delAACA c.(2794-2799)aacagafs p.NR932fs NOL8_ENST00000535387.1_Frame_Shift_Del_p.NR894fs|NOL8_ENST00000358855.4_Frame_Shift_Del_p.NR864fs|NOL8_ENST00000442668.2_Frame_Shift_Del_p.NR932fs|NOL8_ENST00000542053.1_Frame_Shift_Del_p.NR864fs Q76FK4 NOL8_HUMAN nucleolar protein 8 932 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 16 ACTGATCCTCTGTTTGTAGAATTG 0.338 7 281 --- --- --- ---