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 WHAMMP3 0 broad.mit.edu 37 15 23205098 23205098 + RNA SNP G G A rs146035894 by1000genomes TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr15:23205098G>A ENST00000400153.2 - 0 756 NR_003521.1 CTGGAAGAACGTGGTTGCCAC 0.373000 3 33 0 0 1 0 0 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 6 125 0 0 1 0 0 PCSK9 255738 broad.mit.edu 37 1 55523717 55523717 + Missense_Mutation SNP G G A TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr1:55523717G>A ENST00000302118.5 + 8 1479 c.1189G>A c.(1189-1191)Gcc>Acc p.A397T PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Missense_Mutation_p.A197T NM_174936.3 NP_777596.2 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 397 Peptidase S8. cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 AGGCATTGCAGCCATGATGCT 0.602000 4 104 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121685032 121685032 + Translation_Start_Site SNP G G A TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr2:121685032G>A ENST00000314490.11 + 0 274 GLI2_ENST00000361492.4_Missense_Mutation_p.G82S|GLI2_ENST00000452319.1_Missense_Mutation_p.G82S|GLI2_ENST00000435313.2_3'UTR P10070 GLI2_HUMAN GLI family zinc finger 2 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) TTCTGTCCACGGTGTGCACGG 0.622000 35 212 0 0 1 0 0 HSPA13 6782 broad.mit.edu 37 21 15750617 15750617 + Silent SNP T T C TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr21:15750617T>C ENST00000285667.3 - 3 550 c.483A>G c.(481-483)gcA>gcG p.A161A HSPA13_ENST00000544452.1_Intron NM_006948.4 NP_008879.3 P48723 HSP13_HUMAN heat shock protein 70kDa family, member 13 161 endoplasmic reticulum|microsome ATP binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 TTCCAAGATATGCCTCTGCCA 0.408000 83 113 0 0 1 0 0 C7 730 broad.mit.edu 37 5 40959677 40959677 + Missense_Mutation SNP C C T TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr5:40959677C>T ENST00000313164.9 + 12 1975 c.1616C>T c.(1615-1617)aCg>aTg p.T539M NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 539 TSP type-1 2. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex p.T539M(1) Ovarian(839;0.0112) GTTGGAGAAACGACAGAAAGC 0.542000 11 29 0 0 1 0 0 TGOLN2 10618 broad.mit.edu 37 2 85554633 85554633 + Silent SNP C C T TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr2:85554633C>T ENST00000377386.3 - 2 684 c.222G>A c.(220-222)gcG>gcA p.A74A TGOLN2_ENST00000409232.3_Silent_p.A74A|TGOLN2_ENST00000409015.1_Silent_p.A74A|TGOLN2_ENST00000398263.2_Silent_p.A74A|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000444342.2_Silent_p.A74A O43493 TGON2_HUMAN trans-golgi network protein 2 74 14 X 14 AA tandem repeats. A -> P (in Ref. 4; BAD96783). integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle protein binding CTGGGGTCTGCGCCTCCGCAC 0.607000 7 715 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36896948 36896948 + Missense_Mutation SNP G G A TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr3:36896948G>A ENST00000429976.2 - 12 4380 c.4133C>T c.(4132-4134)tCg>tTg p.S1378L TRANK1_ENST00000428977.2_Missense_Mutation_p.S828L|TRANK1_ENST00000301807.6_Missense_Mutation_p.S828L O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 1378 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CCTGAGCTTCGACAGCCTCCG 0.488000 115 196 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100676201 100676201 + Missense_Mutation SNP C C T TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr7:100676201C>T ENST00000306151.4 + 3 1568 c.1504C>T c.(1504-1506)Cca>Tca p.P502S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 502 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TAACAGCATGCCAACCTCAAC 0.493000 6 948 0 0 1 0 0 ITGBL1 9358 broad.mit.edu 37 13 102227854 102227854 + Silent SNP C C T TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr13:102227854C>T ENST00000376180.3 + 4 762 c.543C>T c.(541-543)gaC>gaT p.D181D ITGBL1_ENST00000376162.3_Silent_p.D88D|ITGBL1_ENST00000545560.2_Silent_p.D40D NM_001271756.1|NM_004791.1 NP_001258685.1|NP_004782.1 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat domains) 181 Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3) 31 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GTGAGTGTGACGATAGAGAAT 0.348000 11 364 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36899337 36899337 + Missense_Mutation SNP T T C TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr3:36899337T>C ENST00000429976.2 - 12 1991 c.1744A>G c.(1744-1746)Aaa>Gaa p.K582E TRANK1_ENST00000428977.2_Missense_Mutation_p.K32E|TRANK1_ENST00000301807.6_Missense_Mutation_p.K32E O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 582 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 TTGCCCTCTTTGTTCTTCAGA 0.512000 5 273 0 0 1 0 0 TVP23C 201158 broad.mit.edu 37 17 15441469 15441469 + Splice_Site SNP C C T rs139351610 by1000genomes TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr17:15441469C>T ENST00000584811.1 - 7 1815 c.e7-2 TVP23C_ENST00000225576.3_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000519970.1_Intron trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) TCCAGTGTTCCGCAAAAGACA 0.393000 4 136 0 0 1 0 0 ST8SIA4 7903 broad.mit.edu 37 5 100222198 100222198 + Silent SNP G G A TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr5:100222198G>A ENST00000231461.5 - 3 662 c.352C>T c.(352-354)Cta>Tta p.L118L ST8SIA4_ENST00000507360.2_5'UTR|ST8SIA4_ENST00000451528.2_Silent_p.L118L NM_005668.4 NP_005659.1 Q92187 SIA8D_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 118 axon guidance|N-glycan processing integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1) 25 all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203) COAD - Colon adenocarcinoma(37;0.00402) GAAATGTTTAGTGTCCGGCGC 0.438000 61 206 0 0 1 0 0 TRIM55 84675 broad.mit.edu 37 8 67039513 67039513 + Missense_Mutation SNP T T C TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr8:67039513T>C ENST00000315962.4 + 1 383 c.10T>C c.(10-12)Tct>Cct p.S4P TRIM55_ENST00000353317.5_Missense_Mutation_p.S4P|TRIM55_ENST00000350034.4_Missense_Mutation_p.S4P|TRIM55_ENST00000276573.7_Missense_Mutation_p.S4P NM_184085.1 NP_908973.1 Q9BYV6 TRI55_HUMAN tripartite motif containing 55 4 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) GATGAGCGCATCTCTGAATTA 0.483000 32 131 0 0 1 0 0 EPHA5 2044 broad.mit.edu 37 4 66213865 66213865 + Silent SNP A A G TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr4:66213865A>G ENST00000273854.3 - 15 3165 c.2565T>C c.(2563-2565)ttT>ttC p.F855F EPHA5_ENST00000354839.4_Silent_p.F833F|EPHA5_ENST00000511294.1_Silent_p.F856F|EPHA5_ENST00000432638.2_Silent_p.F692F NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 855 Protein kinase. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 TGGCAGAAGTAAACTTTCGGA 0.388000 TSP Lung(17;0.13) 4 204 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3424149 3424149 + RNA SNP C C T rs112841660 TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr11:3424149C>T ENST00000529482.1 + 0 808 TCATAGAGGACGAAGACTTCT 0.562000 3 48 0 0 1 0 0 DSC1 1823 broad.mit.edu 37 18 28710645 28710645 + Silent SNP C C T TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr18:28710645C>T ENST00000257198.5 - 16 2778 c.2517G>A c.(2515-2517)gaG>gaA p.E839E DSC1_ENST00000257197.3_3'UTR|RP11-408H20.2_ENST00000581836.1_RNA NM_024421.2 NP_077739.1 Q08554 DSC1_HUMAN desmocollin 1 839 homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) AATGTTTATGCTCCTCATCTT 0.388000 4 158 0 0 1 0 0 NR3C1 2908 broad.mit.edu 37 5 142780104 142780104 + Missense_Mutation SNP C C T TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr5:142780104C>T ENST00000343796.2 - 2 1294 c.301G>A c.(301-303)Gac>Aac p.D101N NR3C1_ENST00000394466.2_Missense_Mutation_p.D101N|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000394464.2_Missense_Mutation_p.D101N|NR3C1_ENST00000424646.2_Missense_Mutation_p.D101N|NR3C1_ENST00000231509.3_Missense_Mutation_p.D101N|NR3C1_ENST00000415690.2_Missense_Mutation_p.D101N|NR3C1_ENST00000503201.1_Missense_Mutation_p.D101N|NR3C1_ENST00000504572.1_Missense_Mutation_p.D101N NM_001018074.1|NM_001018075.1|NM_001018077.1 NP_001018084.1|NP_001018085.1|NP_001018087.1 P04150 GCR_HUMAN nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) 101 Modulating. chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter mitochondrial matrix|nucleoplasm glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 35 Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635) AATCCCAGGTCATTTCCCATC 0.483000 17 288 0 0 1 0 0 HMHA1 23526 broad.mit.edu 37 19 1080922 1080922 + Silent SNP G G A TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr19:1080922G>A ENST00000313093.2 + 17 2280 c.2049G>A c.(2047-2049)ccG>ccA p.P683P HMHA1_ENST00000536472.1_Silent_p.P551P|HMHA1_ENST00000539243.2_Silent_p.P699P|HMHA1_ENST00000590577.1_Silent_p.P318P|HMHA1_ENST00000543365.1_Silent_p.P566P|HMHA1_ENST00000590214.1_Silent_p.P710P|HMHA1_ENST00000586866.1_Silent_p.P687P NM_012292.3 NP_036424.2 Q92619 HMHA1_HUMAN histocompatibility (minor) HA-1 683 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2) 16 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCGAGCTGCCGGTGGCCGTGC 0.701000 15 25 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348668 197348668 + RNA SNP C C G rs79940815 by1000genomes TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr3:197348668C>G ENST00000418868.1 - 0 591 NR_003266.2 ACTTGAGGCTCTGTCCACCAA 0.488000 4 250 0 0 1 0 0 GLUD1 2746 broad.mit.edu 37 10 88836407 88836407 + Missense_Mutation SNP C C T TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr10:88836407C>T ENST00000277865.4 - 2 548 c.452G>A c.(451-453)cGt>cAt p.R151H GLUD1_ENST00000537649.1_5'UTR|GLUD1_ENST00000544149.1_Missense_Mutation_p.R18H NM_005271.3 NP_005262.1 P00367 DHE3_HUMAN glutamate dehydrogenase 1 151 glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion mitochondrial matrix ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1) 22 L-Glutamic Acid(DB00142)|NADH(DB00157) AGTGCTGTAACGGATACCTGG 0.403000 70 124 0 0 1 0 0 INSR 0 broad.mit.edu 37 19 7267448 7267448 + Missense_Mutation SNP G G A TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr19:7267448G>A ENST00000341500.5 - 2 599 c.560C>T c.(559-561)cCg>cTg p.P187L INSR_ENST00000302850.5_Missense_Mutation_p.P187L NM_001079817.1 NP_001073285.1 P06213 INSR_HUMAN insulin receptor 187 Cys-rich. activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding p.P187L(4) breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CGCGGTACCCGGACAGATGTC 0.537000 4 150 0 0 1 0 0 DDX60 55601 broad.mit.edu 37 4 169183842 169183842 + Missense_Mutation SNP G G A TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr4:169183842G>A ENST00000393743.3 - 23 3427 c.3136C>T c.(3136-3138)Cgg>Tgg p.R1046W DDX60_ENST00000505393.1_5'UTR NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 1046 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) ACCTGGGCCCGAGGCCAACTT 0.378000 74 140 0 0 1 0 0 HIVEP1 3096 broad.mit.edu 37 6 12124098 12124098 + Missense_Mutation SNP C C A TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr6:12124098C>A ENST00000379388.2 + 4 4402 c.4070C>A c.(4069-4071)cCt>cAt p.P1357H NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 1357 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) CTGAATGTTCCTGGATGTCAC 0.428000 4 133 0.00909568 0.00921536 1 1 0 LRRC16A 55604 broad.mit.edu 37 6 25605088 25605088 + Missense_Mutation SNP A A G TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr6:25605088A>G ENST00000329474.6 + 34 3969 c.3601A>G c.(3601-3603)Agc>Ggc p.S1201G NM_001173977.1|NM_017640.5 NP_001167448.1|NP_060110.4 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 1201 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 50 CCCAGCTTTGAGCGGCGTAGA 0.493000 6 14 0 0 1 0 0 SLC6A7 6534 broad.mit.edu 37 5 149583555 149583555 + Missense_Mutation SNP T T G TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr5:149583555T>G ENST00000230671.2 + 10 1657 c.1286T>G c.(1285-1287)cTc>cGc p.L429R SLC6A7_ENST00000524041.1_Missense_Mutation_p.L429R NM_014228.3 NP_055043.2 Q99884 SC6A7_HUMAN solute carrier family 6 (neurotransmitter transporter), member 7 429 integral to plasma membrane|membrane fraction neurotransmitter:sodium symporter activity|proline:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1) 16 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Proline(DB00172) TTCTCAGGGCTCATCTGCGTG 0.582000 3 58 0 0 1 0 0 SNHG14 0 broad.mit.edu 37 15 25333948 25333948 + RNA SNP C C T TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr15:25333948C>T ENST00000546682.1 + 0 586 SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA NR_003361.1 AAATACTGTGCGTGGATCGAT 0.458000 76 313 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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 75 99 0 0 1 0 0 CAT 847 broad.mit.edu 37 11 34475370 34475370 + Missense_Mutation SNP G G A TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr11:34475370G>A ENST00000241052.4 + 6 697 c.608G>A c.(607-609)cGg>cAg p.R203Q NM_001752.3 NP_001743.1 P04040 CATA_HUMAN catalase 203 hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection peroxisomal matrix|peroxisomal membrane catalase activity|heme binding|NADP binding|protein homodimerization activity breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3) 26 Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027) BRCA - Breast invasive adenocarcinoma(625;0.000995) Fomepizole(DB01213) TTCAGTGATCGGGGGATTCCA 0.343000 76 145 0 0 1 0 0 CHRD 8646 broad.mit.edu 37 3 184104344 184104344 + Missense_Mutation SNP T T G TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr3:184104344T>G ENST00000204604.1 + 16 2243 c.1997T>G c.(1996-1998)gTg>gGg p.V666G CHRD_ENST00000348986.3_Missense_Mutation_p.V626G|CHRD_ENST00000545352.1_Intron|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.V666G NM_003741.2 NP_003732.2 Q9H2X0 CHRD_HUMAN chordin 666 BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GCCGAGGGGGTGCGGGCGCTG 0.726000 8 13 0 0 1 0 0 IRS1 3667 broad.mit.edu 37 2 227662549 227662549 + Silent SNP T T G TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr2:227662549T>G ENST00000305123.4 - 1 1926 c.906A>C c.(904-906)cgA>cgC p.R302R NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 302 Ser-rich. fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) CAGTGCGTGATCGGCGGGTCA 0.682000 OREG0015248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 135 0 0 1 0 0 KCNK2 3776 broad.mit.edu 37 1 215408391 215408391 + Missense_Mutation SNP T T G TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr1:215408391T>G ENST00000444842.2 + 7 1334 c.1184T>G c.(1183-1185)gTc>gGc p.V395G KCNK2_ENST00000391895.2_Missense_Mutation_p.V391G|KCNK2_ENST00000391894.2_Missense_Mutation_p.V380G NM_001017425.2|NM_014217.3 NP_001017425.2|NP_055032.1 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 395 Essential for chloroform and halothane sensitivity (By similarity).|Required for basal channel activity (By similarity). outward rectifier potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) GAGAGGGATGTCTTGCCTCCC 0.512000 27 155 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14485191 14485191 + Missense_Mutation SNP G G C TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr5:14485191G>C ENST00000344204.4 + 47 6695 c.6671G>C c.(6670-6672)tGc>tCc p.C2224S TRIO_ENST00000537187.1_Missense_Mutation_p.C2224S NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 2224 PH 2. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) AGTTGCCTTTGCCTGGAGGAA 0.408000 5 228 0 0 1 0 0 CABS1 85438 broad.mit.edu 37 4 71201164 71201164 + Silent SNP C C G TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr4:71201164C>G ENST00000273936.4 + 1 467 c.408C>G c.(406-408)tcC>tcG p.S136S NM_033122.3 NP_149113.3 Q96KC9 CABS1_HUMAN calcium-binding protein, spermatid-specific 1 136 flagellum calcium ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 TAGATTTTTCCACTGACATAG 0.383000 22 103 0 0 1 0 0 MCCC1 56922 broad.mit.edu 37 3 182804549 182804549 + Missense_Mutation SNP C C T TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr3:182804549C>T ENST00000265594.4 - 4 447 c.301G>A c.(301-303)Gct>Act p.A101T MCCC1_ENST00000492597.1_5'UTR|MCCC1_ENST00000539926.1_Intron NM_020166.3 NP_064551.3 Q96RQ3 MCCA_HUMAN methylcrotonoyl-CoA carboxylase 1 (alpha) 101 Biotin carboxylation. biotin metabolic process|leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2) 40 all_cancers(143;1.84e-14)|Ovarian(172;0.0355) all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21) Biotin(DB00121) TGGGAGGGAGCGGGGCCGATG 0.453000 26 33 0 0 1 0 0 ZFP28 140612 broad.mit.edu 37 19 57066157 57066157 + Missense_Mutation SNP C C A TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr19:57066157C>A ENST00000301318.3 + 8 2074 c.2003C>A c.(2002-2004)aCa>aAa p.T668K AC007228.11_ENST00000596587.1_RNA NM_020828.1 NP_065879.1 Q8NHY6 ZFP28_HUMAN ZFP28 zinc finger protein 668 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 35 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0302) AAAACCCATACAGGAGAGAAA 0.463000 48 22 8.72198e-27 9.07558e-27 1 1 0 TMEM72 643236 broad.mit.edu 37 10 45430279 45430279 + Silent SNP C C G TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr10:45430279C>G ENST00000544540.1 + 4 655 c.171C>G c.(169-171)ctC>ctG p.L57L TMEM72-AS1_ENST00000450287.2_RNA A0PK05 TMM72_HUMAN transmembrane protein 72 175 integral to membrane breast(2)|kidney(1)|large_intestine(2)|lung(10) 15 ATGGGGCCCTCAAGGAGGGGC 0.602000 148 222 0 0 1 0 0 OSBPL10 114884 broad.mit.edu 37 3 31774883 31774883 + Missense_Mutation SNP C C T rs143778028 TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr3:31774883C>T ENST00000396556.2 - 6 1083 c.961G>A c.(961-963)Ggg>Agg p.G321R OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Missense_Mutation_p.G257R NM_017784.4 NP_060254.2 Q9BXB5 OSB10_HUMAN oxysterol binding protein-like 10 321 lipid transport lipid binding p.G321W(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 STAD - Stomach adenocarcinoma(1;0.00406) GACTTGGACCCGTGCCATCCC 0.413000 6 365 0 0 1 0 0 PTPRJ 5795 broad.mit.edu 37 11 48146663 48146663 + Silent SNP C C A rs142177730 TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr11:48146663C>A ENST00000418331.2 + 6 1370 c.1018C>A c.(1018-1020)Cga>Aga p.R340R PTPRJ_ENST00000440289.2_Silent_p.R340R NM_002843.3 NP_002834.3 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 340 Fibronectin type-III 3. contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GCCTGGCACCCGATACAATGC 0.562000 51 172 5.57489e-27 5.88037e-27 1 1 0 KCNB2 9312 broad.mit.edu 37 8 73480200 73480200 + Silent SNP C C T TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr8:73480200C>T ENST00000523207.1 + 2 819 c.231C>T c.(229-231)tgC>tgT p.C77C NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 77 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) TGGAAGTGTGCGACGACTATA 0.522000 4 163 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42799051 42799051 + Missense_Mutation SNP G G A TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr19:42799051G>A ENST00000572681.2 + 21 7321 c.7253G>A c.(7252-7254)cGt>cAt p.R2418H CIC_ENST00000160740.3_Missense_Mutation_p.R1510H|CIC_ENST00000575354.2_Missense_Mutation_p.R1512H Q96RK0 CIC_HUMAN capicua transcriptional repressor 1512 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) TTGAAGATCCGTGAGGTGCGC 0.627000 """Mis, F, S""" oligodendroglioma 4 85 0 0 1 0 0 ZNF737 100129842 broad.mit.edu 37 19 20728053 20728053 + Missense_Mutation SNP C C T TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr19:20728053C>T ENST00000427401.4 - 4 1050 c.956G>A c.(955-957)gGc>gAc p.G319D NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 319 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 AAAGGCTTTGCCACATTCTTC 0.418000 4 129 0 0 1 0 0 ASUN 55726 broad.mit.edu 37 12 27087520 27087520 + Missense_Mutation SNP G G T TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr12:27087520G>T ENST00000261191.7 - 3 805 c.269C>A c.(268-270)tCt>tAt p.S90Y ASUN_ENST00000539625.1_Intron NM_018164.2 NP_060634.2 Q9NVM9 M89BB_HUMAN asunder spermatogenesis regulator 90 cell division|mitosis|regulation of mitotic cell cycle protein binding TTGAGTCCAAGAATTTAAAAC 0.313000 56 187 5.10508e-28 5.4596e-28 1 1 0 MOGAT3 346606 broad.mit.edu 37 7 100839216 100839216 + Silent SNP C C T TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr7:100839216C>T ENST00000379423.3 - 6 894 c.834G>A c.(832-834)gcG>gcA p.A278A MOGAT3_ENST00000440203.2_3'UTR|MOGAT3_ENST00000223114.4_3'UTR Q86VF5 MOGT3_HUMAN monoacylglycerol O-acyltransferase 3 0 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3) 22 Lung NSC(181;0.168)|all_lung(186;0.215) AGCGAAAGGCCGCGGCCAGGC 0.627000 56 90 0 0 1 0 0 ATP6V1H 51606 broad.mit.edu 37 8 54723771 54723771 + Missense_Mutation SNP G G A TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr8:54723771G>A ENST00000359530.2 - 7 795 c.532C>T c.(532-534)Cgt>Tgt p.R178C ATP6V1H_ENST00000396774.2_Missense_Mutation_p.R178C|ATP6V1H_ENST00000355221.3_Intron|ATP6V1H_ENST00000520188.1_Missense_Mutation_p.R138C NM_015941.3 NP_057025.2 Q9UI12 VATH_HUMAN ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H 178 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1) 18 all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359) CCGCTACCACGCAGTTTCTAT 0.343000 4 164 0 0 1 0 0 SNX29 92017 broad.mit.edu 37 16 12662399 12662399 + Silent SNP G G A TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr16:12662399G>A ENST00000566228.1 + 21 2424 c.2355G>A c.(2353-2355)cgG>cgA p.R785R CTD-3037G24.3_ENST00000564505.1_RNA|SNX29_ENST00000306030.3_Silent_p.R400R NM_032167.3 NP_115543.3 Q8TEQ0 SNX29_HUMAN sorting nexin 29 400 cell communication phosphatidylinositol binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 7 TGAACAGCCGGCCCAAAGCAG 0.622000 4 87 0 0 1 0 0 IGSF6 10261 broad.mit.edu 37 16 21658503 21658503 + Silent SNP C C T TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr16:21658503C>T ENST00000268389.4 - 2 439 c.378G>A c.(376-378)ccG>ccA p.P126P METTL9_ENST00000358154.3_Intron|METTL9_ENST00000396014.4_Intron NM_005849.3 NP_005840.2 O95976 IGSF6_HUMAN immunoglobulin superfamily, member 6 126 Ig-like C2-type. cell surface receptor linked signaling pathway|immune response integral to plasma membrane transmembrane receptor activity endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1) 7 GBM - Glioblastoma multiforme(48;0.066) CTCTCGCTTCCGGCACACTGG 0.488000 5 243 0 0 1 0 0 CADPS2 93664 broad.mit.edu 37 7 122261562 122261562 + Silent SNP G G A TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr7:122261562G>A ENST00000334010.7 - 5 1498 c.1077C>T c.(1075-1077)tcC>tcT p.S359S CADPS2_ENST00000313070.7_Silent_p.S359S|CADPS2_ENST00000449022.2_Silent_p.S359S|CADPS2_ENST00000412584.2_Silent_p.S359S NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 359 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 GTACCACGTCGGACTTTGACA 0.393000 5 232 0 0 1 0 0 KBTBD6 89890 broad.mit.edu 37 13 41705440 41705440 + Missense_Mutation SNP G G T TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr13:41705440G>T ENST00000379485.1 - 1 1442 c.1208C>A c.(1207-1209)aCa>aAa p.T403K KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K NM_152903.4 NP_690867.3 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain containing 6 403 protein binding p.T403K(7) NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4) 43 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) CCAGAGGTCTGTCCTGGGCTG 0.507000 5 252 0.000602214 0.000618273 1 1 0 CYP11A1 1583 broad.mit.edu 37 15 74637578 74637578 + Silent SNP C C T TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr15:74637578C>T ENST00000268053.6 - 3 586 c.432G>A c.(430-432)tcG>tcA p.S144S CYP11A1_ENST00000541301.1_Intron|CYP11A1_ENST00000358632.4_5'UTR|CYP11A1_ENST00000419019.2_5'UTR NM_000781.2 NP_000772.2 P05108 CP11A_HUMAN cytochrome P450, family 11, subfamily A, polypeptide 1 144 C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) TCCAGGCTGCCGACTTCCTGA 0.582000 25 43 0 0 1 0 0 SULF1 23213 broad.mit.edu 37 8 70541854 70541854 + Missense_Mutation SNP C C T TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr8:70541854C>T ENST00000260128.4 + 19 2941 c.2224C>T c.(2224-2226)Cct>Tct p.P742S SULF1_ENST00000458141.2_Missense_Mutation_p.P742S|SULF1_ENST00000402687.4_Missense_Mutation_p.P742S|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.P742S NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 742 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) GTGCAGCCTGCCTGGCCTCAC 0.537000 5 247 0 0 1 0 0 COG4 25839 broad.mit.edu 37 16 70546310 70546310 + Silent SNP T T C TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr16:70546310T>C ENST00000323786.5 - 5 591 c.570A>G c.(568-570)aaA>aaG p.K190K COG4_ENST00000564653.1_Intron|COG4_ENST00000393612.4_Silent_p.K186K NM_001195139.1|NM_015386.2 NP_001182068.1|NP_056201.2 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 186 Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2) 33 Ovarian(137;0.0694) CCTGCAGCAATTTCAGGTTGG 0.478000 18 36 0 0 1 0 0 EPX 8288 broad.mit.edu 37 17 56270829 56270829 + Missense_Mutation SNP G G A TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr17:56270829G>A ENST00000225371.5 + 3 378 c.268G>A c.(268-270)Gca>Aca p.A90T NM_000502.4 NP_000493.1 P11678 PERE_HUMAN eosinophil peroxidase 90 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 48 TGTTCGGGCCGCAGATTATAT 0.572000 56 137 0 0 1 0 0 CACUL1 143384 broad.mit.edu 37 10 120450872 120450872 + Silent SNP T T C TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr10:120450872T>C ENST00000369151.3 - 7 1413 c.930A>G c.(928-930)ccA>ccG p.P310P CACUL1_ENST00000544392.1_5'UTR NM_153810.4 NP_722517.3 CDK2-associated, cullin domain 1 GGAGAATGTTTGGAATAAATT 0.363000 114 198 0 0 1 0 0 MPG 4350 broad.mit.edu 37 16 135641 135641 + Silent SNP G G A rs140510538 TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr16:135641G>A ENST00000219431.4 + 5 993 c.762G>A c.(760-762)ccG>ccA p.P254P MPG_ENST00000397817.1_Silent_p.P237P NM_002434.3 NP_002425.2 P29372 3MG_HUMAN N-methylpurine-DNA glycosylase 254 depurination|DNA dealkylation involved in DNA repair nucleoplasm alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 9 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) CCAGTGAGCCGGCTGTAGTGG 0.667000 Base excision repair (BER), DNA glycosylases 10 29 0 0 1 0 0 KCNK2 3776 broad.mit.edu 37 1 215408420 215408420 + Missense_Mutation SNP A A T TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr1:215408420A>T ENST00000444842.2 + 7 1363 c.1213A>T c.(1213-1215)Atc>Ttc p.I405F KCNK2_ENST00000391895.2_Missense_Mutation_p.I401F|KCNK2_ENST00000391894.2_Missense_Mutation_p.I390F NM_001017425.2|NM_014217.3 NP_001017425.2|NP_055032.1 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 405 Essential for chloroform and halothane sensitivity (By similarity).|Required for basal channel activity (By similarity). outward rectifier potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) GACTGAGAGTATCTATCTGAA 0.473000 32 184 0 0 1 0 0 FOXR2 139628 broad.mit.edu 37 X 55651077 55651077 + Silent SNP T T C TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chrX:55651077T>C ENST00000339140.3 + 1 1245 c.933T>C c.(931-933)ctT>ctC p.L311L NM_198451.3 NP_940853.1 Q6PJQ5 FOXR2_HUMAN forkhead box R2 311 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 19 TCTTTGATCTTTGAAATGCCA 0.478000 9 37 0 0 1 0 0 GSG1L 146395 broad.mit.edu 37 16 27856321 27856321 + Silent SNP G G A TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr16:27856321G>A ENST00000380898.2 - 4 696 c.147C>T c.(145-147)ctC>ctT p.L49L GSG1L_ENST00000395724.3_Silent_p.L153L|GSG1L_ENST00000569166.1_Silent_p.L49L|GSG1L_ENST00000447459.2_Silent_p.L204L|GSG1L_ENST00000380897.3_Silent_p.L49L Q6UXU4 GSG1L_HUMAN GSG1-like 204 integral to membrane endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4) 17 CCTCAGGACCGAGGCTCACGG 0.602000 13 35 0 0 1 0 0 IL27RA 9466 broad.mit.edu 37 19 14157003 14157003 + Nonsense_Mutation SNP G G A TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr19:14157003G>A ENST00000263379.2 + 7 931 c.806G>A c.(805-807)tGg>tAg p.W269* NM_004843.3 NP_004834.1 Q6UWB1 I27RA_HUMAN interleukin 27 receptor, alpha 269 cell surface receptor linked signaling pathway|immune response integral to plasma membrane transmembrane receptor activity breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 26 TACAAAGTCTGGTTCTGGGTT 0.552000 132 232 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48715931 48715931 + Silent SNP G G A TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr8:48715931G>A ENST00000314191.2 - 71 9911 c.9855C>T c.(9853-9855)tgC>tgT p.C3285C PRKDC_ENST00000338368.3_Silent_p.C3285C|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 3286 FAT. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) ACCGGCTCCGGCAGTGGCTCA 0.512000 Non-homologous end-joining 5 249 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152772223 152772223 + Missense_Mutation SNP T T A TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr6:152772223T>A ENST00000367255.5 - 26 3746 c.3145A>T c.(3145-3147)Atg>Ttg p.M1049L SYNE1_ENST00000448038.1_Missense_Mutation_p.M1056L|SYNE1_ENST00000341594.5_Missense_Mutation_p.M1115L|SYNE1_ENST00000413186.2_Missense_Mutation_p.M1049L|SYNE1_ENST00000423061.1_Missense_Mutation_p.M1056L|SYNE1_ENST00000367253.4_Missense_Mutation_p.M1049L|SYNE1_ENST00000367248.3_Missense_Mutation_p.M1039L|SYNE1_ENST00000265368.4_Missense_Mutation_p.M1049L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1049 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TCCTGGGGCATCAGCTTGGTC 0.453000 HNSCC(10;0.0054) 74 181 0 0 1 0 0 AGAP1 116987 broad.mit.edu 37 2 236708060 236708060 + Missense_Mutation SNP C C T TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr2:236708060C>T ENST00000409538.1 + 8 2142 c.1646C>T c.(1645-1647)tCg>tTg p.S549L AGAP1_ENST00000428334.2_Missense_Mutation_p.S123L|AGAP1_ENST00000336665.5_Missense_Mutation_p.S284L|AGAP1_ENST00000304032.7_Missense_Mutation_p.S284L|AGAP1_ENST00000409457.1_Missense_Mutation_p.S284L Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 284 PH. protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 TCCGTTCCATCGACTCCCAGC 0.517000 4 162 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71346978 71346978 + Missense_Mutation SNP T T C TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr4:71346978T>C ENST00000413702.1 + 4 805 c.517T>C c.(517-519)Tct>Cct p.S173P MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 173 Thr-rich. extracellular region protein binding p.S173P(3) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.522000 5 217 0 0 1 0 0 RP11-44F14.1 0 broad.mit.edu 37 16 53404691 53404691 + RNA SNP C C T TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr16:53404691C>T ENST00000565421.1 - 0 350 AAATAAGCCTCCATTTCAGAG 0.358000 14 36 0 0 1 0 0 ZNF292 23036 broad.mit.edu 37 6 87966803 87966806 + Frame_Shift_Del DEL GTTT GTTT - TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr6:87966803_87966806delGTTT ENST00000369577.3 + 8 3499_3502 c.3456_3459delGTTT c.(3454-3459)aafs p.KF1152fs ZNF292_ENST00000339907.4_Frame_Shift_Del_p.KF1147fs NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 1152 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) ATAATGGAAAGTTTGTTTATTTTT 0.402 30 88 --- --- --- --- RP11-165I9.6 0 broad.mit.edu 37 13 25780715 25780715 + RNA DEL T T - TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr13:25780715delT ENST00000435725.2 - 0 195 ttaataaaaattttaaaaaaa 0.378 3 5 --- --- --- --- ARGLU1 55082 broad.mit.edu 37 13 107219953 107219955 + In_Frame_Del DEL CTC CTC - TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr13:107219953_107219955delCTC ENST00000400198.3 - 1 557_559 c.313_315delGAG c.(313-315)del p.E105del NM_018011.3 NP_060481.3 Q9NWB6 ARGL1_HUMAN arginine and glutamate rich 1 105 Glu-rich. large_intestine(1)|lung(5)|pancreas(1) 7 Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) CCGCTTTCTTCTCCTCCTCCTCT 0.714 51 125 --- --- --- --- UBR7 55148 broad.mit.edu 37 14 93693343 93693345 + In_Frame_Del DEL AGA AGA - TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr14:93693343_93693345delAGA ENST00000013070.6 + 11 1476_1478 c.1240_1242delAGA c.(1240-1242)del p.R416del UBR7_ENST00000416753.1_In_Frame_Del_p.R340del NM_175748.3 NP_786924.2 Q8N806 UBR7_HUMAN ubiquitin protein ligase E3 component n-recognin 7 (putative) 416 ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1) 19 GTCAAAAAAGAGAAGAAGAGTGG 0.374 38 82 --- --- --- --- UBE2Q2P3 0 broad.mit.edu 37 15 83040943 83040944 + RNA INS - - T TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr15:83040943_83040944insT ENST00000558477.1 + 0 233 NR_004847.2 GAACAAAAATCTTTTTTTTTTT 0.312 4 3 --- --- --- --- LL22NC03-86D4.1 0 broad.mit.edu 37 22 34492089 34492090 + RNA INS - - T TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr22:34492089_34492090insT ENST00000412218.1 + 0 114 ctgccttgctgtttTTTTTTGT 0.366 3 3 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42605990 42605992 + In_Frame_Del DEL CTG CTG - TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d203973d-84e1-49c8-ab52-9f8b466dd5ed 7c75a779-b0bd-4575-ab5d-a9d3c801f219 g.chr22:42605990_42605992delCTG ENST00000359486.3 - 1 5456_5458 c.5320_5322delCAG c.(5320-5322)del p.Q1774del TCF20_ENST00000335626.4_In_Frame_Del_p.Q1774del|TCF20_ENST00000404876.1_In_Frame_Del_p.Q75del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 1774 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 TCTGCTCCTTCTGCTGCTGCTGC 0.601 7 254 --- --- --- ---