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 GATA3 2625 broad.mit.edu 37 10 8100451 8100451 + Missense_Mutation SNP C C T TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr10:8100451C>T ENST00000379328.3 + 3 993 c.425C>T c.(424-426)tCg>tTg p.S142L GATA3_ENST00000346208.3_Missense_Mutation_p.S142L|GATA3_ENST00000461472.1_3'UTR NM_001002295.1|NM_002051.2 NP_001002295.1|NP_002042.1 P23771 GATA3_HUMAN GATA binding protein 3 142 Poly-Ser. aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2) 87 TCCTCCTTGTCGGGGGGCCAC 0.726000 """F, N, S""" breast """HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)""" 33 107 0 0 1 0 0 WDR33 55339 broad.mit.edu 37 2 128477018 128477018 + Missense_Mutation SNP G G T TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr2:128477018G>T ENST00000322313.4 - 16 2739 c.2581C>A c.(2581-2583)Cag>Aag p.Q861K NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 861 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) GGCCCCTGCTGACTTTGTGAG 0.652000 20 102 2.94398e-08 3.05169e-08 1 1 0 ARHGAP31 57514 broad.mit.edu 37 3 119133024 119133024 + Missense_Mutation SNP G G A TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr3:119133024G>A ENST00000264245.4 + 12 2780 c.2248G>A c.(2248-2250)Gcc>Acc p.A750T NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 750 Pro-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity p.A750T(1) breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 CCCAGACCTCGCCAGCCTGGC 0.592000 11 128 0 0 1 0 0 GHR 2690 broad.mit.edu 37 5 42713545 42713545 + Missense_Mutation SNP T T C TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr5:42713545T>C ENST00000230882.4 + 8 989 c.799T>C c.(799-801)Tgg>Cgg p.W267R GHR_ENST00000357703.3_Missense_Mutation_p.W245R|GHR_ENST00000537449.1_Missense_Mutation_p.W80R NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 267 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) CTACTTTCCATGGCTCTTAAT 0.323000 6 69 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32715162 32715162 + Missense_Mutation SNP G G A TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr2:32715162G>A ENST00000421745.2 + 43 8284 c.8150G>A c.(8149-8151)cGg>cAg p.R2717Q NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 2717 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) ACTTTGCTCCGGACATGGTGC 0.343000 4 161 0 0 1 0 0 LINGO2 158038 broad.mit.edu 37 9 27950551 27950551 + Missense_Mutation SNP G G T TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr9:27950551G>T ENST00000379992.2 - 6 568 c.119C>A c.(118-120)tCt>tAt p.S40Y LINGO2_ENST00000308675.3_Missense_Mutation_p.S40Y NM_152570.2 NP_689783.1 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 40 LRRNT. integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) ACAGCTAACAGATTTGTTCTG 0.517000 21 97 1.10513e-12 1.15971e-12 1 1 0 NUP85 79902 broad.mit.edu 37 17 73230760 73230760 + Silent SNP C C T TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr17:73230760C>T ENST00000447371.2 + 16 1564 c.1140C>T c.(1138-1140)taC>taT p.Y380Y NUP85_ENST00000541827.1_Silent_p.Y502Y|NUP85_ENST00000579298.1_Silent_p.Y503Y|NUP85_ENST00000245544.4_Silent_p.Y548Y|NUP85_ENST00000540768.1_Silent_p.Y151Y|NUP85_ENST00000579324.1_Silent_p.Y436Y Q9BW27 NUP85_HUMAN nucleoporin 85kDa 548 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle protein binding endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 16 all_lung(278;0.14)|Lung NSC(278;0.168) all cancers(21;3.45e-06) ACCGTATGTACGGGGAGAAGC 0.517000 5 274 0 0 1 0 0 ZNF25 219749 broad.mit.edu 37 10 38241241 38241241 + Missense_Mutation SNP C C G TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr10:38241241C>G ENST00000302609.7 - 6 1397 c.1185G>C c.(1183-1185)gaG>gaC p.E395D ZNF25_ENST00000374633.1_5'UTR NM_145011.2 NP_659448.1 P17030 ZNF25_HUMAN zinc finger protein 25 395 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157) CATAGGGCTTCTCTCCTGTGT 0.438000 4 80 0 0 1 0 0 GRXCR1 389207 broad.mit.edu 37 4 42895339 42895339 + Missense_Mutation SNP G G A TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr4:42895339G>A ENST00000399770.2 + 1 56 c.56G>A c.(55-57)cGg>cAg p.R19Q NM_001080476.2 NP_001073945.1 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 19 cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1) 32 GTCCGGTTTCGGATCGCGTCC 0.512000 22 138 0 0 1 0 0 MAGI3 260425 broad.mit.edu 37 1 114184787 114184787 + Missense_Mutation SNP G G A TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr1:114184787G>A ENST00000369615.1 + 10 1677 c.1615G>A c.(1615-1617)Gag>Aag p.E539K MAGI3_ENST00000369617.4_Missense_Mutation_p.E564K|MAGI3_ENST00000307546.9_Missense_Mutation_p.E539K|MAGI3_ENST00000369611.4_Missense_Mutation_p.E539K NM_152900.2 NP_690864.2 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 564 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AATGGTTCTGGAGCAGAATGG 0.488000 7 124 0 0 1 0 0 ADARB2 105 broad.mit.edu 37 10 1262965 1262965 + Missense_Mutation SNP G G C TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr10:1262965G>C ENST00000381312.1 - 7 1933 c.1608C>G c.(1606-1608)agC>agG p.S536R ADARB2_ENST00000469464.1_5'UTR NM_018702.3 NP_061172.1 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 (non-functional) 536 A to I editase. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 41 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) TCTGCACTGCGCTGGGGCCAC 0.662000 5 26 0 0 1 0 0 CHRNB4 1143 broad.mit.edu 37 15 78917350 78917350 + Missense_Mutation SNP T T G TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr15:78917350T>G ENST00000412074.2 - 5 754 c.643A>C c.(643-645)Acc>Ccc p.T215P CHRNB4_ENST00000261751.3_3'UTR NM_001256567.1 NP_001243496.1 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 (neuronal) 0 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 CTGTGGCTGGTTTGATGGGGT 0.572000 7 26 0 0 1 0 0 USP28 57646 broad.mit.edu 37 11 113684607 113684607 + Splice_Site SNP C C T TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr11:113684607C>T ENST00000003302.4 - 15 1811 c.1743_splice c.e15+1 p.Q581_splice USP28_ENST00000260188.5_Splice_Site_p.Q581_splice|USP28_ENST00000545540.1_Splice_Site_p.Q456_splice|USP28_ENST00000544967.1_Splice_Site_p.Q289_splice|USP28_ENST00000537706.1_Silent_p.Q581Q NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 581 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) TTCATTCTACCTGACGAAGGA 0.358000 3 23 0 0 1 0 0 CHST12 55501 broad.mit.edu 37 7 2472309 2472309 + Missense_Mutation SNP T T G TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr7:2472309T>G ENST00000258711.6 + 2 170 c.35T>G c.(34-36)gTg>gGg p.V12G NM_001243794.1|NM_001243795.1|NM_018641.4 NP_001230723.1|NP_001230724.1|NP_061111.1 Q9NRB3 CHSTC_HUMAN carbohydrate (chondroitin 4) sulfotransferase 12 12 dermatan sulfate biosynthetic process integral to Golgi membrane 3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding p.V12G(2) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13) CTGTGGCTGGTGCTGGGGTCG 0.662000 7 46 0 0 1 0 0 ARHGAP27 201176 broad.mit.edu 37 17 43474296 43474296 + Missense_Mutation SNP G G A TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr17:43474296G>A ENST00000532038.1 - 10 1406 c.1271C>T c.(1270-1272)gCg>gTg p.A424V ARHGAP27_ENST00000376922.2_Missense_Mutation_p.A305V|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.A619V|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.A646V|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.A624V|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.A278V|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.A305V Q6ZUM4 RHG27_HUMAN Rho GTPase activating protein 27 646 WW 3. positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction cytoplasm|membrane Rac GTPase activator activity|SH3 domain binding endometrium(4)|large_intestine(9)|lung(3)|skin(1) 17 Renal(3;0.0405) ATTCGGTCGCGCGTCCTCCTC 0.677000 26 59 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195507062 195507062 + Missense_Mutation SNP C C T rs74208457 TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr3:195507062C>T ENST00000463781.3 - 2 11848 c.11389G>A c.(11389-11391)Gac>Aac p.D3797N MUC4_ENST00000475231.1_Missense_Mutation_p.D3797N|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 580 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 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) GAGGAAGTGTCGGTGACAGGA 0.607000 2 2 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 98058845 98058845 + Missense_Mutation SNP G G A rs143154602 TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr1:98058845G>A ENST00000370192.3 - 10 1157 c.1057C>T c.(1057-1059)Cgt>Tgt p.R353C NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 353 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) GCTCCACAACGTAGAGCAGAT 0.483000 30 89 0 0 1 0 0 CRIM1 51232 broad.mit.edu 37 2 36691743 36691743 + Silent SNP C C T TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr2:36691743C>T ENST00000280527.2 + 5 1303 c.936C>T c.(934-936)gtC>gtT p.V312V NM_016441.2 NP_057525.1 Q9NZV1 CRIM1_HUMAN cysteine rich transmembrane BMP regulator 1 (chordin-like) 312 nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) CCCGCATAGTCTCTCGTGGCG 0.498000 51 197 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11593460 11593460 + Missense_Mutation SNP C C A TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr17:11593460C>A ENST00000262442.3 + 20 4389 c.4321C>A c.(4321-4323)Cag>Aag p.Q1441K DNAH9_ENST00000454412.2_Missense_Mutation_p.Q1441K NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1441 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AAAGGAGCTGCAGACTACCTG 0.552000 6 43 0.217242 0.217242 1 1 0 WBP11 51729 broad.mit.edu 37 12 14947617 14947617 + Missense_Mutation SNP C C T TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr12:14947617C>T ENST00000261167.2 - 7 808 c.575G>A c.(574-576)cGt>cAt p.R192H WBP11_ENST00000537574.1_Missense_Mutation_p.R192H NM_016312.2 NP_057396.1 Q9Y2W2 WBP11_HUMAN WW domain binding protein 11 192 Pro-rich. mRNA processing|RNA splicing|rRNA processing cytoplasm single-stranded DNA binding|WW domain binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1) 30 AGGGGGCAAACGTGGAACACC 0.488000 33 144 0 0 1 0 0 JMJD1C 221037 broad.mit.edu 37 10 64968932 64968932 + Missense_Mutation SNP G G A TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr10:64968932G>A ENST00000399262.2 - 9 2976 c.2758C>T c.(2758-2760)Ctt>Ttt p.L920F JMJD1C_ENST00000542921.1_Missense_Mutation_p.L738F|JMJD1C_ENST00000402544.1_Missense_Mutation_p.L701F|JMJD1C_ENST00000399251.1_Missense_Mutation_p.L701F NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 920 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) ATGTGACTAAGTAATCCAATA 0.423000 13 74 0 0 1 0 0 DCP1B 196513 broad.mit.edu 37 12 2062350 2062350 + Missense_Mutation SNP C C G TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr12:2062350C>G ENST00000280665.6 - 7 835 c.756G>C c.(754-756)caG>caC p.Q252H DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 252 Poly-Gln. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding p.Q252H(8) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) gctgctgctgctgGTGGAGAG 0.552000 4 65 0 0 1 0 0 HS3ST3A1 9955 broad.mit.edu 37 17 13399965 13399965 + Missense_Mutation SNP A A G TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr17:13399965A>G ENST00000284110.1 - 2 1567 c.770T>C c.(769-771)cTg>cCg p.L257P HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.L55P NM_006042.1 NP_006033.1 Q9Y663 HS3SA_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 257 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 3 activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_lung(20;0.114) UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CCGCTTGGACAGCGTCTGCGT 0.642000 7 94 0 0 1 0 0 IRF1 3659 broad.mit.edu 37 5 131822820 131822820 + Nonsense_Mutation SNP G G A TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr5:131822820G>A ENST00000245414.4 - 4 448 c.190C>T c.(190-192)Cga>Tga p.R64* IRF1_ENST00000463784.1_5'UTR|IRF1_ENST00000405885.2_Nonsense_Mutation_p.R64* NM_002198.2 NP_002189.1 P10914 IRF1_HUMAN interferon regulatory factor 1 64 blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleoplasm cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1) 11 all_cancers(142;0.026)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) LUAD - Lung adenocarcinoma(142;0.247) GCTTTGTATCGGCCTAGAGGG 0.567000 6 325 0 0 1 0 0 TMEM198 130612 broad.mit.edu 37 2 220409504 220409504 + Missense_Mutation SNP G G A TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr2:220409504G>A ENST00000344458.2 + 3 640 c.55G>A c.(55-57)Gat>Aat p.D19N TMEM198_ENST00000373883.3_Missense_Mutation_p.D19N Q66K66 TM198_HUMAN transmembrane protein 198 19 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 16 Renal(207;0.0376) Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) TGAGCCAGATGATGCCTTCTG 0.592000 5 98 0 0 1 0 0 SOAT1 6646 broad.mit.edu 37 1 179322747 179322747 + Missense_Mutation SNP C C T TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr1:179322747C>T ENST00000367619.3 + 16 1767 c.1624C>T c.(1624-1626)Cgt>Tgt p.R542C SOAT1_ENST00000539888.1_Missense_Mutation_p.R477C|SOAT1_ENST00000540564.1_Missense_Mutation_p.R484C|SOAT1_ENST00000535686.1_Missense_Mutation_p.R278C NM_003101.5 NP_003092.4 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 542 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1) 20 Ezetimibe(DB00973)|Hesperetin(DB01094) TGTCCGGCCACGTTCCTGGAC 0.458000 4 149 0 0 1 0 0 STK32B 55351 broad.mit.edu 37 4 5461873 5461873 + Missense_Mutation SNP A A G TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr4:5461873A>G ENST00000282908.5 + 9 1249 c.827A>G c.(826-828)gAc>gGc p.D276G STK32B_ENST00000510398.1_Missense_Mutation_p.D229G|STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000512636.1_Missense_Mutation_p.D199G NM_018401.1 NP_060871.1 Q9NY57 ST32B_HUMAN serine/threonine kinase 32B 276 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 39 AGCCTTCATGACATACAGAGC 0.562000 OREG0016061 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 80 0 0 1 0 0 XPO1 7514 broad.mit.edu 37 2 61715378 61715378 + Missense_Mutation SNP A A C TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr2:61715378A>C ENST00000401558.2 - 19 2962 c.2235T>G c.(2233-2235)atT>atG p.I745M XPO1_ENST00000406957.1_Missense_Mutation_p.I745M|XPO1_ENST00000404992.2_Missense_Mutation_p.I745M NM_003400.3 NP_003391.1 O14980 XPO1_HUMAN exportin 1 (CRM1 homolog, yeast) 745 intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex protein binding|protein transporter activity|RNA binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226) GCATACTTCTAATCAATGGTT 0.363000 Mis CLL 21 83 0 0 1 0 0 CROCC 9696 broad.mit.edu 37 1 17296411 17296411 + Silent SNP G G A TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr1:17296411G>A ENST00000375541.5 + 33 5502 c.5433G>A c.(5431-5433)caG>caA p.Q1811Q NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 1811 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) CCGAGGGCCAGCTACAACAGC 0.662000 11 65 0 0 1 0 0 SYCE1 93426 broad.mit.edu 37 10 135369153 135369153 + Missense_Mutation SNP G G A rs143005509 TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr10:135369153G>A ENST00000368517.3 - 11 808 c.670C>T c.(670-672)Cgc>Tgc p.R224C SYCE1_ENST00000432597.2_Missense_Mutation_p.R224C|SYCE1_ENST00000343131.5_Missense_Mutation_p.R260C|SPRN_ENST00000541506.1_Intron NM_130784.2 NP_570140.1 Q8N0S2 SYCE1_HUMAN synaptonemal complex central element protein 1 260 cell division central element breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1) 19 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) tgctggtggcgctgggcagca 0.652000 12 51 0 0 1 0 0 UBC 7316 broad.mit.edu 37 12 125397652 125397652 + Silent SNP T T C rs146795524 TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr12:125397652T>C ENST00000536769.1 - 1 2242 c.666A>G c.(664-666)gtA>gtG p.V222V UBC_ENST00000546120.1_Silent_p.V146V|UBC_ENST00000339647.5_Silent_p.V222V|UBC_ENST00000538617.1_Intron P0CG48 UBC_HUMAN ubiquitin C 222 Ubiquitin-like 3. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) TGAGACGGAGTACCAGGTGCA 0.512000 4 151 0 0 1 0 0 BRINP1 1620 broad.mit.edu 37 9 121930093 121930093 + Missense_Mutation SNP G G A TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr9:121930093G>A ENST00000265922.3 - 8 2016 c.1555C>T c.(1555-1557)Cgg>Tgg p.R519W DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 519 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 TTGCGCCACCGAGGGTCAAAG 0.567000 8 66 0 0 1 0 0 ORC2 4999 broad.mit.edu 37 2 201791609 201791609 + Missense_Mutation SNP A A C TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr2:201791609A>C ENST00000234296.2 - 12 1181 c.932T>G c.(931-933)aTt>aGt p.I311S NM_006190.4 NP_006181.1 Q13416 ORC2_HUMAN origin recognition complex, subunit 2 311 cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA replication origin binding|protein binding breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 20 ATAAAGCACAATGTTGAACCC 0.358000 19 77 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1558985 1558985 + Splice_Site SNP G G A rs140632398 by1000genomes TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr20:1558985G>A ENST00000381605.4 - 2 496 c.433_splice c.e2+1 p.R144_splice SIRPB1_ENST00000262929.5_Splice_Site_p.R143_splice|RP4-576H24.4_ENST00000564763.1_Splice_Site_p.R144_splice|SIRPB1_ENST00000381603.3_Splice_Site_p.R144_splice NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 144 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 TGTACTCACCGCGCACAGACA 0.552000 4 160 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100676716 100676716 + Silent SNP G G A TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr7:100676716G>A ENST00000306151.4 + 3 2083 c.2019G>A c.(2017-2019)gcG>gcA p.A673A NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 673 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) CTACAACTGCGGAAGGTACCA 0.498000 6 733 0 0 1 0 0 KIAA0196 9897 broad.mit.edu 37 8 126052082 126052082 + Missense_Mutation SNP C C T TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr8:126052082C>T ENST00000318410.7 - 24 3258 c.2909G>A c.(2908-2910)cGg>cAg p.R970Q KIAA0196_ENST00000517845.1_Missense_Mutation_p.R822Q NM_014846.3 NP_055661.3 Q12768 STRUM_HUMAN KIAA0196 970 cell death WASH complex NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 42 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) AGAATCAAACCGACAAGAATA 0.423000 3 48 0 0 1 0 0 HOXB2 3212 broad.mit.edu 37 17 46622097 46622097 + Silent SNP G G A TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr17:46622097G>A ENST00000330070.4 - 1 1344 c.177C>T c.(175-177)ggC>ggT p.G59G HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000504972.3_RNA NM_002145.3 NP_002136.1 P14652 HXB2_HUMAN homeobox B2 59 blood circulation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 11 GGGTGGAGGCGCCGGGCTGGA 0.637000 17 75 0 0 1 0 0 LHFPL5 222662 broad.mit.edu 37 6 35773525 35773525 + Silent SNP C C T TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr6:35773525C>T ENST00000360215.1 + 1 455 c.78C>T c.(76-78)ggC>ggT p.G26G LHFPL5_ENST00000373853.1_Silent_p.G26G NM_182548.3 NP_872354.1 Q8TAF8 TMHS_HUMAN lipoma HMGIC fusion partner-like 5 26 integral to membrane endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1) 20 GAGCCGTGGGCGTGATGTGGG 0.617000 43 171 0 0 1 0 0 TMEM63B 55362 broad.mit.edu 37 6 44122113 44122113 + Silent SNP G G A TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr6:44122113G>A ENST00000259746.9 + 23 2421 c.2238G>A c.(2236-2238)acG>acA p.T746T TMEM63B_ENST00000323267.6_Silent_p.T746T Q5T3F8 TM63B_HUMAN transmembrane protein 63B 746 integral to membrane nucleotide binding|protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4) 35 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) TTGAGCACACGGAGACAGATA 0.632000 13 91 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 4 48 0 0 1 0 0 RGS12 6002 broad.mit.edu 37 4 3429890 3429890 + Silent SNP G G A TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr4:3429890G>A ENST00000336727.3 + 15 4309 c.3405G>A c.(3403-3405)tcG>tcA p.S1135S RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000306648.7_Silent_p.S533S|RGS12_ENST00000382788.3_Silent_p.S1135S|RGS12_ENST00000538395.1_Silent_p.S477S|RGS12_ENST00000344733.5_Silent_p.S1135S|RGS12_ENST00000338806.4_Silent_p.S487S NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 1135 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GAAACCACTCGGCTACGGTAA 0.562000 4 156 0 0 1 0 0 KRTAP10-9 386676 broad.mit.edu 37 21 46047095 46047095 + Missense_Mutation SNP G G A TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr21:46047095G>A ENST00000397911.3 + 1 56 c.7G>A c.(7-9)Gcg>Acg p.A3T TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_3'UTR NM_198690.2 NP_941963.2 P60411 KR109_HUMAN keratin associated protein 10-9 3 keratin filament endometrium(1)|kidney(1)|large_intestine(1)|lung(6) 9 CAGCATGGCCGCGTCCACCAT 0.627000 4 151 0 0 1 0 0 FOS 2353 broad.mit.edu 37 14 75745726 75745726 + Missense_Mutation SNP C C T TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr14:75745726C>T ENST00000303562.4 + 1 250 c.41C>T c.(40-42)tCc>tTc p.S14F FOS_ENST00000556324.2_3'UTR|FOS_ENST00000554617.1_Missense_Mutation_p.S14F|FOS_ENST00000535987.1_Missense_Mutation_p.S14F|FOS_ENST00000555242.1_Missense_Mutation_p.S14F NM_005252.3 NP_005243.1 P01100 FOS_HUMAN FBJ murine osteosarcoma viral oncogene homolog 14 cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112) BRCA - Breast invasive adenocarcinoma(234;0.0117) GAGGCGTCATCCTCCCGCTGC 0.667000 5 50 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971186 21971186 + Nonsense_Mutation SNP G G A rs121913387 TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr9:21971186G>A ENST00000304494.5 - 2 442 c.172C>T c.(172-174)Cga>Tga p.R58* CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|RP11-145E5.5_ENST00000404796.2_Intron NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 58 R -> Q (in dbSNP:rs36204273). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TCCGCCACTCGGGCGCTGCCC 0.677000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 4 22 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 4 167 0 0 1 0 0 NUMA1 4926 broad.mit.edu 37 11 71724933 71724933 + Missense_Mutation SNP C C G TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr11:71724933C>G ENST00000393695.3 - 15 3947 c.3616G>C c.(3616-3618)Gaa>Caa p.E1206Q NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.E1206Q NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 1206 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 CACTCATCTTCAGCCTTGCTG 0.607000 T RARA APL 9 126 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578263 7578263 + Nonsense_Mutation SNP G G A TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr17:7578263G>A ENST00000420246.2 - 6 718 c.586C>T c.(586-588)Cga>Tga p.R196* TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 196 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCTTCCACTCGGATAAGATGC 0.552000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 19 44 0 0 1 0 0 COQ4 51117 broad.mit.edu 37 9 131085368 131085368 + Silent SNP G G A TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr9:131085368G>A ENST00000300452.3 + 2 467 c.144G>A c.(142-144)caG>caA p.Q48Q COQ4_ENST00000372875.3_Silent_p.Q48Q NM_016035.3 NP_057119.2 Q9Y3A0 COQ4_HUMAN coenzyme Q4 48 ubiquinone biosynthetic process mitochondrial inner membrane endometrium(4)|large_intestine(1)|lung(4) 9 CCCCGCTGCAGAAAGGGCTGT 0.716000 5 57 0 0 1 0 0 CRISP3 10321 broad.mit.edu 37 6 49698888 49698888 + Missense_Mutation SNP C C T TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr6:49698888C>T ENST00000433368.2 - 7 736 c.667G>A c.(667-669)Gat>Aat p.D223N CRISP3_ENST00000393666.1_Missense_Mutation_p.D200N|CRISP3_ENST00000263045.4_Missense_Mutation_p.D213N|CRISP3_ENST00000371159.4_Missense_Mutation_p.D231N|CRISP3_ENST00000423399.2_Missense_Mutation_p.D110N NM_001190986.1 NP_001177915.1 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 200 innate immune response proteinaceous extracellular matrix|specific granule breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1) 27 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) CATAGTCCATCGTCACAGTTA 0.343000 6 41 0 0 1 0 0 CCDC33 80125 broad.mit.edu 37 15 74572368 74572368 + Missense_Mutation SNP G G C TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr15:74572368G>C ENST00000321288.5 + 10 1433 c.1433G>C c.(1432-1434)cGa>cCa p.R478P CCDC33_ENST00000398814.3_Missense_Mutation_p.R275P Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 478 protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 TTCCAAGGCCGAGATGGAGCT 0.617000 3 43 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 81719626 81719626 + Missense_Mutation SNP C C T TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr12:81719626C>T ENST00000550584.2 - 21 2867 c.2572G>A c.(2572-2574)Gca>Aca p.A858T PPFIA2_ENST00000407050.4_Missense_Mutation_p.A784T|PPFIA2_ENST00000549396.1_Missense_Mutation_p.A858T|PPFIA2_ENST00000541017.1_Missense_Mutation_p.A75T|PPFIA2_ENST00000548586.1_Missense_Mutation_p.A858T|PPFIA2_ENST00000541570.2_Missense_Mutation_p.A425T|PPFIA2_ENST00000443686.3_Missense_Mutation_p.A759T|PPFIA2_ENST00000549325.1_Missense_Mutation_p.A840T|PPFIA2_ENST00000333447.7_Missense_Mutation_p.A840T|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000552948.1_Missense_Mutation_p.A858T|PPFIA2_ENST00000550359.2_Missense_Mutation_p.A705T NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 784 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 TCCTGAGCTGCAGCTTCAGTC 0.423000 5 30 0 0 1 0 0 ASAP2 8853 broad.mit.edu 37 2 9519164 9519164 + Missense_Mutation SNP C C T TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr2:9519164C>T ENST00000281419.3 + 19 2264 c.1924C>T c.(1924-1926)Cgg>Tgg p.R642W ASAP2_ENST00000315273.4_Missense_Mutation_p.R642W NM_003887.2 NP_003878.1 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 642 regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 GTTGCTCCTGCGGGGGAAGGC 0.652000 9 41 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23509593 23509593 + Silent SNP C C T TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr5:23509593C>T ENST00000296682.3 + 3 266 c.84C>T c.(82-84)ttC>ttT p.F28F NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 28 KRAB-related. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 AAGATGCCTTCAAAGACATTT 0.428000 HNSCC(3;0.000094) 33 168 0 0 1 0 0 ACSS2 55902 broad.mit.edu 37 20 33508832 33508832 + Silent SNP G G A TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr20:33508832G>A ENST00000360596.2 + 10 1378 c.1167G>A c.(1165-1167)ccG>ccA p.P389P ACSS2_ENST00000336325.4_Silent_p.P339P|ACSS2_ENST00000253382.5_Silent_p.P402P|ACSS2_ENST00000476922.1_Intron NM_018677.3 NP_061147.1 Q9NR19 ACSA_HUMAN acyl-CoA synthetase short-chain family member 2 389 ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process cytosol|nucleus acetate-CoA ligase activity|ATP binding|protein binding cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9) 21 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CCACATATCCGGACGTGAACC 0.507000 11 195 0 0 1 0 0 FEM1C 56929 broad.mit.edu 37 5 114878763 114878763 + Missense_Mutation SNP T T C TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr5:114878763T>C ENST00000274457.3 - 2 989 c.428A>G c.(427-429)gAa>gGa p.E143G NM_020177.2 NP_064562.1 Q96JP0 FEM1C_HUMAN fem-1 homolog c (C. elegans) 143 cytoplasm breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 18 all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05) GTTTGACACTTCCAAATCAGC 0.403000 4 121 0 0 1 0 0 HTR1B 3351 broad.mit.edu 37 6 78172192 78172192 + Missense_Mutation SNP C C T TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr6:78172192C>T ENST00000369947.2 - 1 1298 c.929G>A c.(928-930)cGc>cAc p.R310H NM_000863.1 NP_000854.1 P28222 5HT1B_HUMAN 5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled 310 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission integral to plasma membrane protein binding|serotonin receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2) 25 all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332) BRCA - Breast invasive adenocarcinoma(397;0.205) Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315) GGTGGCTTTGCGCTCCCTAGC 0.522000 5 306 0 0 1 0 0 RACGAP1 29127 broad.mit.edu 37 12 50395035 50395035 + Splice_Site SNP G G A TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr12:50395035G>A ENST00000434422.1 - 8 851 c.549_splice c.e8-1 p.R184_splice RACGAP1_ENST00000312377.5_Splice_Site_p.R184_splice|RACGAP1_ENST00000547905.1_Splice_Site_p.R184_splice|RACGAP1_ENST00000454520.2_Splice_Site_p.R184_splice|RACGAP1_ENST00000547061.1_5'UTR|RACGAP1_ENST00000551016.1_Splice_Site_p.R184_splice|RACGAP1_ENST00000427314.2_Splice_Site_p.R184_splice Q9H0H5 RGAP1_HUMAN Rac GTPase activating protein 1 184 Interaction with SLC26A8. blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6) 14 CTAGTAGAGCGCTAGAAAGGA 0.458000 3 41 0 0 1 0 0 MST1 4485 broad.mit.edu 37 3 49721622 49721622 + Splice_Site SNP C C T TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr3:49721622C>T ENST00000449682.2 - 18 2378 c.2016_splice c.e18-1 p.G673_splice NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 659 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CCGTAGTCACCCTGGCAGGTA 0.567000 4 40 0 0 1 0 0 FBXW12 285231 broad.mit.edu 37 3 48415161 48415161 + Silent SNP G G A TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr3:48415161G>A ENST00000296438.5 + 4 438 c.252G>A c.(250-252)ccG>ccA p.P84P FBXW12_ENST00000436231.1_Intron|FBXW12_ENST00000415155.1_Silent_p.P84P|FBXW12_ENST00000445170.1_Silent_p.P65P NM_207102.2 NP_996985.2 Q6X9E4 FBW12_HUMAN F-box and WD repeat domain containing 12 84 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TGGCACAGCCGCATAACTTTA 0.448000 4 81 0 0 1 0 0 EIF4G3 8672 broad.mit.edu 37 1 21205843 21205843 + Silent SNP G G A TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr1:21205843G>A ENST00000602326.1 - 18 3028 c.2445C>T c.(2443-2445)taC>taT p.Y815Y EIF4G3_ENST00000264211.8_Silent_p.Y809Y|EIF4G3_ENST00000537738.1_Silent_p.Y299Y|EIF4G3_ENST00000374935.3_Silent_p.Y529Y|EIF4G3_ENST00000374937.3_Silent_p.Y815Y|EIF4G3_ENST00000536266.1_Silent_p.Y413Y|EIF4G3_ENST00000400422.1_Silent_p.Y809Y NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 809 MIF4G.|eIF3/EIF4A-binding (By similarity). interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) ACATGTTTGCGTAAGCCACAG 0.443000 5 194 0 0 1 0 0 FGFR1OP2 26127 broad.mit.edu 37 12 27116352 27116352 + Silent SNP G G A TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr12:27116352G>A ENST00000229395.3 + 6 930 c.588G>A c.(586-588)caG>caA p.Q196Q FGFR1OP2_ENST00000327214.5_Silent_p.Q158Q NM_015633.2 NP_056448.1 Q9NVK5 FGOP2_HUMAN FGFR1 oncogene partner 2 196 cytoplasm cervix(1)|large_intestine(4)|lung(1)|prostate(2) 8 Colorectal(261;0.0847) ACGAGCAACAGGGTTGCAAGG 0.373000 8 57 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs60608267 by1000genomes TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr12:132547093A>G ENST00000333577.4 + 48 8398 c.8289A>G c.(8287-8289)caA>caG p.Q2763Q EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389562.2_Silent_p.Q2726Q Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagc 0.567000 4 109 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152284304 152284304 + Missense_Mutation SNP A A C TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr1:152284304A>C ENST00000368799.1 - 3 3093 c.3058T>G c.(3058-3060)Tca>Gca p.S1020A FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1020 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCATGGGATGACGCAGCCTGT 0.582000 Ichthyosis 23 748 0 0 1 0 0 ATP7A 538 broad.mit.edu 37 X 77275824 77275824 + Missense_Mutation SNP G G A TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chrX:77275824G>A ENST00000341514.6 + 13 2865 c.2710G>A c.(2710-2712)Gca>Aca p.A904T ATP7A_ENST00000343533.5_Missense_Mutation_p.A826T|ATP7A_ENST00000350425.4_Intron NM_000052.5 NP_000043.3 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 904 ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 GCTTATCTGCGCAACACATGT 0.463000 4 85 0 0 1 0 0 ANO8 57719 broad.mit.edu 37 19 17441719 17441719 + Missense_Mutation SNP C C T TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr19:17441719C>T ENST00000159087.4 - 8 1069 c.911G>A c.(910-912)cGg>cAg p.R304Q NM_020959.2 NP_066010.1 Q9HCE9 ANO8_HUMAN anoctamin 8 304 chloride channel complex chloride channel activity autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3) 27 AGCCCCTCTCCGCTTCCATTC 0.597000 45 253 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296167 39296167 + Silent SNP A A G TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr17:39296167A>G ENST00000345847.4 - 1 572 c.573T>C c.(571-573)atT>atC p.I191I NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 187 keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 GGCAGGTGGAAATGACACAGG 0.627000 3 20 0 0 1 0 0 PCSK9 255738 broad.mit.edu 37 1 55505552 55505553 + In_Frame_Ins INS - - CTG rs35574083 TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr1:55505552_55505553insCTG ENST00000302118.5 + 1 332_333 c.42_43insCTG c.(40-45)cctgct>ccCTGtgct p.14_15PA>PCA PCSK9_ENST00000452118.2_In_Frame_Ins_p.14_15PA>PCA NM_174936.3 NP_777596.2 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 14 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 p.P14_L15insL(2) 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 Ggccgctgccactgctgctgct 0.703 4 6 --- --- --- --- HSPD1P6 645548 broad.mit.edu 37 3 36810381 36810381 + RNA DEL T T - TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr3:36810381delT ENST00000424886.1 - 0 405 GAGTGAGGCCttttttttttt 0.542 2 4 --- --- --- --- FAT2 2196 broad.mit.edu 37 5 150891893 150891894 + Frame_Shift_Ins INS - - GG TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr5:150891893_150891894insGG ENST00000261800.5 - 20 11749_11750 c.11737_11738insCC c.(11737-11739)ggafs p.G3913fs CTC-251D13.1_ENST00000606930.1_RNA NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 3913 Laminin G-like. 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) GACAGCATCCAGGCAGCCTTCA 0.599 32 110 --- --- --- --- FAM157B 100132403 broad.mit.edu 37 9 141107536 141107537 + RNA INS - - GCA TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr9:141107536_141107537insGCA ENST00000446912.2 + 0 19_20 P0CG42 F157B_HUMAN CGgcagcggcggcagcagcagc 0.545 2 4 --- --- --- --- TRPV2 51393 broad.mit.edu 37 17 16335490 16335492 + In_Frame_Del DEL TGC TGC - TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464a456c-1c0b-4207-a0be-26778bb69fc7 ea5338b2-979a-4617-8482-b821d0d28014 g.chr17:16335490_16335492delTGC ENST00000338560.7 + 12 2264_2266 c.1865_1867delTGC c.(1864-1869)gtg>g p.VL622del TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_In_Frame_Del_p.VL192del NM_016113.4 NP_057197.2 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, subfamily V, member 2 622 sensory perception integral to plasma membrane|melanosome calcium channel activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3) 28 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) CGCGGCATGGTGCTGCTGCTGCT 0.596 13 141 --- --- --- ---