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 PWWP2A 114825 broad.mit.edu 37 5 159520656 159520656 + Missense_Mutation SNP T T C TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr5:159520656T>C ENST00000456329.3 - 2 1035 c.1001A>G c.(1000-1002)aAg>aGg p.K334R PWWP2A_ENST00000523662.1_Missense_Mutation_p.K334R|PWWP2A_ENST00000307063.7_Missense_Mutation_p.K334R NM_052927.2 NP_443159.1 Q96N64 PWP2A_HUMAN PWWP domain containing 2A 334 kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCTAATTTCCTTTTTTTCAGC 0.333000 3 63 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr3:195505836G>C ENST00000463781.3 - 2 13074 c.12615C>G c.(12613-12615)caC>caG p.H4205Q MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 968 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.H4205Q(10) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGGTGGCGTGACCTGTGG 0.597000 2 2 0 0 1 0 0 SIRT4 23409 broad.mit.edu 37 12 120741654 120741654 + Missense_Mutation SNP G G A TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr12:120741654G>A ENST00000202967.4 + 2 349 c.290G>A c.(289-291)cGg>cAg p.R97Q NM_012240.2 NP_036372.1 Q9Y6E7 SIRT4_HUMAN sirtuin 4 97 Deacetylase sirtuin-type. chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3) 9 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GATTTTGTCCGGAGTGCCCCA 0.582000 3 44 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 5 216 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150925516 150925516 + Silent SNP C C T TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr5:150925516C>T ENST00000261800.5 - 9 5184 c.5172G>A c.(5170-5172)tcG>tcA p.S1724S NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 1724 Cadherin 15. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCTGGTAAGACGAGATTTTCT 0.413000 28 148 0 0 1 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77912899 77912899 + Missense_Mutation SNP G G T TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chrX:77912899G>T ENST00000321110.1 - 2 1314 c.1019C>A c.(1018-1020)gCa>gAa p.A340E NM_152694.2 NP_689907.1 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 340 nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 GAAGTGGGTTGCTACATGACC 0.453000 8 43 1 1 1 1 0 KRTAP10-7 386675 broad.mit.edu 37 21 46021268 46021268 + Silent SNP T T G TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr21:46021268T>G ENST00000380102.2 + 1 772 c.747T>G c.(745-747)tcT>tcG p.S249S TSPEAR_ENST00000323084.4_Intron NM_198689.2 NP_941962.1 P60409 KR107_HUMAN keratin associated protein 10-7 249 30 X 5 AA repeats of C-C-X(3). keratin filament breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 CCACCTGCTCTGATGATTCCG 0.642000 52 243 0 0 1 0 0 A2ML1 144568 broad.mit.edu 37 12 8988135 8988135 + Silent SNP G G A TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr12:8988135G>A ENST00000299698.7 + 6 696 c.516G>A c.(514-516)ctG>ctA p.L172L NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 16 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 CACAGTGGCTGGAAGTGGTAC 0.532000 4 166 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427759 3427759 + RNA SNP C C T TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr11:3427759C>T ENST00000529482.1 + 0 876 TGTCTGCACACGTCCTGCAGT 0.612000 3 80 0 0 1 0 0 LETM1 3954 broad.mit.edu 37 4 1838262 1838262 + Missense_Mutation SNP G G A TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr4:1838262G>A ENST00000302787.2 - 4 928 c.632C>T c.(631-633)cCg>cTg p.P211L NM_012318.2 NP_036450.1 O95202 LETM1_HUMAN leucine zipper-EF-hand containing transmembrane protein 1 211 LETM1. cristae formation integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 13 all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141) CACAAGGAACGGCACCAGGCG 0.562000 31 125 0 0 1 0 0 DGKZ 8525 broad.mit.edu 37 11 46397012 46397012 + Missense_Mutation SNP C C T TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr11:46397012C>T ENST00000454345.1 + 21 2430 c.2305C>T c.(2305-2307)Cgg>Tgg p.R769W DGKZ_ENST00000532868.2_Missense_Mutation_p.R585W|DGKZ_ENST00000318201.8_Missense_Mutation_p.R558W|DGKZ_ENST00000528615.1_Missense_Mutation_p.R359W|DGKZ_ENST00000527911.1_Missense_Mutation_p.R581W|DGKZ_ENST00000343674.6_Missense_Mutation_p.R597W|DGKZ_ENST00000456247.2_Missense_Mutation_p.R580W|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000421244.2_Missense_Mutation_p.R581W|DGKZ_ENST00000395574.3_Missense_Mutation_p.R547W NM_001105540.1 NP_001099010.1 Q13574 DGKZ_HUMAN diacylglycerol kinase, zeta 769 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1) 25 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) ACACGGCGAGCGGCTGACGCA 0.682000 3 2 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16946407 16946407 + RNA SNP T T G rs10796418 by1000genomes TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr1:16946407T>G ENST00000412962.1 - 0 1112 AGCAATCTCCTCACTCAGCTG 0.672000 3 37 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 3 81 0 0 1 0 0 GLYCTK 132158 broad.mit.edu 37 3 52326848 52326848 + Silent SNP G G C TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr3:52326848G>C ENST00000436784.2 + 5 1338 c.1278G>C c.(1276-1278)ctG>ctC p.L426L GLYCTK_ENST00000473032.1_Intron|GLYCTK_ENST00000471180.1_Intron|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000354773.4_3'UTR|GLYCTK_ENST00000305690.8_Intron|GLYCTK_ENST00000477382.1_3'UTR|GLYCTK_ENST00000461183.1_Intron Q8IVS8 GLCTK_HUMAN glycerate kinase 426 protein phosphorylation Golgi apparatus|mitochondrion ATP binding|glycerate kinase activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1) 9 BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235) ACCAGGAACTGGCCCTGCGTG 0.657000 30 87 0 0 1 0 0 RNF186 54546 broad.mit.edu 37 1 20141106 20141106 + Silent SNP G G A TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr1:20141106G>A ENST00000375121.2 - 1 665 c.489C>T c.(487-489)gcC>gcT p.A163A RP11-91K11.2_ENST00000454736.1_RNA NM_019062.1 NP_061935.1 Q9NXI6 RN186_HUMAN ring finger protein 186 163 integral to membrane zinc ion binding kidney(1)|lung(3)|urinary_tract(1) 5 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) TAATGAGCAAGGCCAGCAGGA 0.607000 6 161 0 0 1 0 0 CARD10 29775 broad.mit.edu 37 22 37888680 37888680 + Missense_Mutation SNP G G A TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr22:37888680G>A ENST00000403299.1 - 18 2822 c.2606C>T c.(2605-2607)tCc>tTc p.S869F CARD10_ENST00000406271.3_Missense_Mutation_p.S583F|CARD10_ENST00000251973.5_Missense_Mutation_p.S869F Q9BWT7 CAR10_HUMAN caspase recruitment domain family, member 10 869 activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis CBM complex receptor signaling complex scaffold activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 17 Melanoma(58;0.0574) GTCCAGCCGGGAGCTGGGCAG 0.682000 6 32 0 0 1 0 0 EIF4H 7458 broad.mit.edu 37 7 73609165 73609165 + Silent SNP T T C TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr7:73609165T>C ENST00000265753.8 + 6 703 c.564T>C c.(562-564)ccT>ccC p.P188P EIF4H_ENST00000353999.6_Silent_p.P168P NM_022170.1 NP_071496.1 Q15056 IF4H_HUMAN eukaryotic translation initiation factor 4H 188 interspecies interaction between organisms|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm nucleotide binding|protein binding|translation initiation factor activity endometrium(1)|lung(2)|prostate(1) 4 GAGATGGCCCTCCCCTCCGTG 0.617000 3 76 0 0 1 0 0 C11orf87 399947 broad.mit.edu 37 11 109294541 109294541 + Missense_Mutation SNP C C T TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr11:109294541C>T ENST00000327419.6 + 2 585 c.182C>T c.(181-183)aCg>aTg p.T61M RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA NM_207645.3 NP_997528.2 Q6NUJ2 CK087_HUMAN chromosome 11 open reading frame 87 61 integral to membrane breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 17 TTCTCCTCCACGCTGGTGCTG 0.612000 13 66 0 0 1 0 0 EPB41L3 23136 broad.mit.edu 37 18 5395089 5395089 + Missense_Mutation SNP C C T TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr18:5395089C>T ENST00000341928.2 - 21 3470 c.3130G>A c.(3130-3132)Gat>Aat p.D1044N EPB41L3_ENST00000400111.3_Missense_Mutation_p.D822N|EPB41L3_ENST00000542146.1_Missense_Mutation_p.D349N|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000427684.2_Missense_Mutation_p.D341N|EPB41L3_ENST00000544123.1_Missense_Mutation_p.D875N|EPB41L3_ENST00000540638.2_Missense_Mutation_p.D822N|EPB41L3_ENST00000342933.3_Missense_Mutation_p.D1044N NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 1044 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 ATGTCTGCATCCCCCGTGATG 0.443000 21 100 0 0 1 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64629869 64629869 + Splice_Site SNP C C T TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr5:64629869C>T ENST00000536360.1 - 8 1930 c.1117_splice c.e8+1 p.G373_splice Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 6 373 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) aaaaaCTTACCCAGTGTTCCA 0.259000 17 47 0 0 1 0 0 TLDC1 57707 broad.mit.edu 37 16 84520509 84520509 + Missense_Mutation SNP G G A TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr16:84520509G>A ENST00000343629.6 - 5 868 c.686C>T c.(685-687)aCc>aTc p.T229I TLDC1_ENST00000535580.1_Missense_Mutation_p.T202I NM_020947.3 NP_065998.3 TBC/LysM-associated domain containing 1 AGGGACCAGGGTAGTCAGATC 0.562000 3 69 0 0 1 0 0 PRMT2 3275 broad.mit.edu 37 21 48069639 48069639 + Silent SNP G G A TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr21:48069639G>A ENST00000397637.1 + 6 1596 c.642G>A c.(640-642)ggG>ggA p.G214G PRMT2_ENST00000458387.2_Silent_p.G214G|PRMT2_ENST00000440086.1_Silent_p.G214G|PRMT2_ENST00000397638.2_Silent_p.G214G|PRMT2_ENST00000397628.1_Silent_p.G214G|PRMT2_ENST00000291705.6_Silent_p.G214G|PRMT2_ENST00000355680.3_Silent_p.G214G|PRMT2_ENST00000491389.1_3'UTR|PRMT2_ENST00000334494.4_Silent_p.G214G|PRMT2_ENST00000451211.2_Silent_p.G214G P55345 ANM2_HUMAN protein arginine methyltransferase 2 214 Interaction with ESR1. developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway cytosol|nucleus androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 Breast(49;0.247) Lung NSC(3;0.245) Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248) AGTGGATGGGGACCTGCCTGC 0.657000 3 37 0 0 1 0 0 USP20 0 broad.mit.edu 37 9 132631703 132631703 + Splice_Site SNP G G A TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr9:132631703G>A ENST00000315480.4 + 13 1549 c.1392_splice c.e13+1 p.R464_splice USP20_ENST00000358355.1_Splice_Site_p.R464_splice|USP20_ENST00000372429.3_Splice_Site_p.R464_splice Q9Y2K6 UBP20_HUMAN ubiquitin specific peptidase 20 464 endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1) 11 Ovarian(14;0.00556) ACCTGTGACCGGGTGGGTGCC 0.667000 3 94 0 0 1 0 0 RP11-206L10.2 0 broad.mit.edu 37 1 700532 700532 + RNA DEL T T - TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr1:700532delT ENST00000428504.1 - 0 1021 NR_033908.1 aaaaaaaaaaTTCCTTTGGGA 0.453 3 5 --- --- --- --- RP11-417J8.6 0 broad.mit.edu 37 1 142699941 142699942 + RNA DEL TA TA - TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr1:142699941_142699942delTA ENST00000369381.2 - 0 2077 GAGGAAACACtatatatatata 0.248 3 5 --- --- --- --- ZBTB47 92999 broad.mit.edu 37 3 42700747 42700749 + In_Frame_Del DEL GGA GGA - TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr3:42700747_42700749delGGA ENST00000232974.6 + 2 1181_1183 c.900_902delGGA c.(898-903)cgg>cg p.RE300del ZBTB47_ENST00000505904.1_Intron|ZBTB47_ENST00000457842.3_5'UTR Q9UFB7 ZBT47_HUMAN zinc finger and BTB domain containing 47 26 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1) 13 KIRC - Kidney renal clear cell carcinoma(284;0.216) gcagtggacgggaggaggaggag 0.626 3 5 --- --- --- --- TNK2 10188 broad.mit.edu 37 3 195597006 195597006 + Frame_Shift_Del DEL G G - TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr3:195597006delG ENST00000333602.6 - 11 2139 c.1522delC c.(1522-1524)agfs p.Q508fs TNK2_ENST00000428187.1_Frame_Shift_Del_p.Q540fs|TNK2_ENST00000381916.2_Frame_Shift_Del_p.Q571fs|TNK2_ENST00000392400.1_Frame_Shift_Del_p.Q508fs NM_005781.4 NP_005772.3 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 508 Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) CCTAGATGCTGGGGGGGCCGG 0.612 3 6 --- --- --- --- TNRC18 84629 broad.mit.edu 37 7 5352528 5352530 + In_Frame_Del DEL GAG GAG - TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr7:5352528_5352530delGAG ENST00000399537.4 - 27 8340_8342 c.7992_7994delCTC c.(7990-7995)tct>tc p.SS2670del TNRC18_ENST00000430969.1_In_Frame_Del_p.SS2670del O15417 TNC18_HUMAN trinucleotide repeat containing 18 2670 Ser-rich. DNA binding p.S2671delS(2)|p.P1177delP(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) agaggaggaagaggaggaggagg 0.640 2 4 --- --- --- --- SALL2 6297 broad.mit.edu 37 14 21991334 21991336 + In_Frame_Del DEL GGT GGT - rs113881459 TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr14:21991334_21991336delGGT ENST00000327430.3 - 2 2820_2822 c.2526_2528delACC c.(2524-2529)cct>cc p.PP842del SALL2_ENST00000450879.2_In_Frame_Del_p.PP705del|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron NM_005407.1 NP_005398.1 Q9Y467 SALL2_HUMAN spalt-like transcription factor 2 842 Poly-Pro. DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2) 43 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) CAGGCTGTCAGGTGGTGGTGGTG 0.571 7 119 --- --- --- --- LTB4R2 56413 broad.mit.edu 37 14 24780427 24780428 + Frame_Shift_Del DEL CT CT - TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr14:24780427_24780428delCT ENST00000528054.1 + 1 2267_2268 c.650_651delCT c.(649-651)afs p.T217fs CIDEB_ENST00000336557.5_5'UTR|CIDEB_ENST00000258807.5_5'UTR|LTB4R2_ENST00000543919.1_Frame_Shift_Del_p.T186fs|LTB4R2_ENST00000533293.1_Frame_Shift_Del_p.T186fs|CIDEB_ENST00000555817.1_Intron Q9NPC1 LT4R2_HUMAN leukotriene B4 receptor 2 217 chemotaxis|negative regulation of adenylate cyclase activity integral to plasma membrane endometrium(1)|lung(1)|ovary(1) 3 GBM - Glioblastoma multiforme(265;0.018) AGCCTGGAGACTCTGACCGCTT 0.738 7 17 --- --- --- --- MED9 55090 broad.mit.edu 37 17 17394705 17394707 + In_Frame_Del DEL CAG CAG - TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a 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 7 172 --- --- --- --- CTD-2033D24.2 0 broad.mit.edu 37 17 53627632 53627633 + RNA INS - - T TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr17:53627632_53627633insT ENST00000455347.1 - 0 135 TTGATTGTCTCTTTTTTTTACC 0.376 2 4 --- --- --- --- COL5A3 50509 broad.mit.edu 37 19 10108779 10108779 + Splice_Site DEL T T - TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr19:10108779delT ENST00000264828.3 - 9 1242 c.1158_splice c.e9+1 p.K386_splice NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 386 Nonhelical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) ACCCCTCACCTTTTCAATCAC 0.552 7 664 --- --- --- --- RP1-154K9.2 0 broad.mit.edu 37 X 42384501 42384501 + RNA DEL A A - rs58099801 TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chrX:42384501delA ENST00000411879.1 + 0 523 ttgtctcaggaaaaaaaaaaa 0.418 3 2 --- --- --- ---