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 SYNC 81493 broad.mit.edu 37 1 33149862 33149862 + Missense_Mutation SNP T T C TCGA-HC-7078-01A-11D-2114-08 TCGA-HC-7078-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31caea4-427d-4b58-8a66-08aa09f6d2ea 9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69 g.chr1:33149862T>C ENST00000373484.3 - 3 1454 c.1355A>G c.(1354-1356)tAt>tGt p.Y452C RBBP4_ENST00000373493.5_3'UTR|SYNC_ENST00000409190.3_Missense_Mutation_p.Y452C NM_001161708.1 NP_001155180 Q9H7C4 SYNCI_HUMAN syncoilin, intermediate filament protein 452 Coil 2. intermediate filament|perinuclear region of cytoplasm structural molecule activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 AACTGACTTATAAGTAGAGAG 0.433 133 186 --- --- --- --- HCN3 57657 broad.mit.edu 37 1 155255754 155255754 + Splice_Site SNP G G T TCGA-HC-7078-01A-11D-2114-08 TCGA-HC-7078-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31caea4-427d-4b58-8a66-08aa09f6d2ea 9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69 g.chr1:155255754G>T ENST00000368358.3 + 6 1484 c.1476G>T c.(1474-1476)ggG>ggT p.G492G HCN3_ENST00000496230.1_3'UTR NM_020897.2 NP_065948.1 Q9P1Z3 HCN3_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 3 492 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CCTACTTTGGGGGTCAGCAGG 0.647 54 114 --- --- --- --- CCDC74B 91409 broad.mit.edu 37 2 130902456 130902456 + Missense_Mutation SNP G G C TCGA-HC-7078-01A-11D-2114-08 TCGA-HC-7078-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31caea4-427d-4b58-8a66-08aa09f6d2ea 9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69 g.chr2:130902456G>C ENST00000310463.6 - 1 251 c.114C>G c.(112-114)agC>agG p.S38R CCDC74B_ENST00000409128.1_Missense_Mutation_p.S38R|CCDC74B_ENST00000409943.3_Missense_Mutation_p.S38R|CCDC74B_ENST00000392984.3_5'UTR|CCDC74B_ENST00000409234.3_Missense_Mutation_p.S38R NM_207310.2 NP_997193.1 Q96LY2 CC74B_HUMAN coiled-coil domain containing 74B 38 endometrium(2)|large_intestine(1)|lung(3) 6 Colorectal(110;0.1) TGAGCTGCGGGCTCTGCGGCC 0.716 17 24 --- --- --- --- HOXD10 3236 broad.mit.edu 37 2 176981857 176981857 + Missense_Mutation SNP C C T TCGA-HC-7078-01A-11D-2114-08 TCGA-HC-7078-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31caea4-427d-4b58-8a66-08aa09f6d2ea 9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69 g.chr2:176981857C>T ENST00000249501.4 + 1 551 c.296C>T c.(295-297)cCc>cTc p.P99L HOXD10_ENST00000490088.2_Intron NM_002148.3 NP_002139.2 P28358 HXD10_HUMAN homeobox D10 99 nucleus sequence-specific DNA binding endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) CAGCAAGTCCCCACTTGCTCC 0.448 36 65 --- --- --- --- ANO10 55129 broad.mit.edu 37 3 43618225 43618225 + Missense_Mutation SNP T T C TCGA-HC-7078-01A-11D-2114-08 TCGA-HC-7078-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31caea4-427d-4b58-8a66-08aa09f6d2ea 9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69 g.chr3:43618225T>C ENST00000292246.3 - 6 1291 c.1121A>G c.(1120-1122)aAt>aGt p.N374S ANO10_ENST00000414522.2_Missense_Mutation_p.N374S|ANO10_ENST00000451430.2_Missense_Mutation_p.N263S|ANO10_ENST00000396091.3_Missense_Mutation_p.N308S|ANO10_ENST00000350459.4_Intron NM_018075.3 NP_060545.3 Q9NW15 ANO10_HUMAN anoctamin 10 374 cell death chloride channel complex chloride channel activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3) 29 ATAGAGACGATTCATGATCTC 0.453 18 34 --- --- --- --- FYCO1 79443 broad.mit.edu 37 3 46021201 46021201 + Missense_Mutation SNP G G A TCGA-HC-7078-01A-11D-2114-08 TCGA-HC-7078-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31caea4-427d-4b58-8a66-08aa09f6d2ea 9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69 g.chr3:46021201G>A ENST00000296137.2 - 4 489 c.284C>T c.(283-285)tCa>tTa p.S95L FYCO1_ENST00000535325.1_Missense_Mutation_p.S95L NM_024513.3 NP_078789.2 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 95 RUN. transport integral to membrane metal ion binding|protein binding NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 54 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) GCTTACCTCTGAGATAGACTT 0.498 38 89 --- --- --- --- OR5H6 79295 broad.mit.edu 37 3 97984008 97984008 + Missense_Mutation SNP T T C TCGA-HC-7078-01A-11D-2114-08 TCGA-HC-7078-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31caea4-427d-4b58-8a66-08aa09f6d2ea 9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69 g.chr3:97984008T>C ENST00000383696.2 + 1 921 c.880T>C c.(880-882)Tac>Cac p.Y294H RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005479.1 NP_001005479.1 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene) 294 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 GTCTCTATTTTACACTGTCAT 0.378 16 35 --- --- --- --- CD86 942 broad.mit.edu 37 3 121828209 121828209 + Silent SNP A A T TCGA-HC-7078-01A-11D-2114-08 TCGA-HC-7078-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31caea4-427d-4b58-8a66-08aa09f6d2ea 9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69 g.chr3:121828209A>T ENST00000330540.2 + 5 917 c.801A>T c.(799-801)ctA>ctT p.L267L CD86_ENST00000493101.1_Silent_p.L155L|CD86_ENST00000469710.1_Silent_p.L185L|CD86_ENST00000393627.2_Silent_p.L261L|CD86_ENST00000264468.5_Silent_p.L54L NM_175862.4 NP_787058 P42081 CD86_HUMAN CD86 molecule 267 interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 23 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) GTCTAATTCTATGGAAATGGA 0.458 51 92 --- --- --- --- PIK3CA 5290 broad.mit.edu 37 3 178921553 178921553 + Missense_Mutation SNP T T A rs121913284 TCGA-HC-7078-01A-11D-2114-08 TCGA-HC-7078-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31caea4-427d-4b58-8a66-08aa09f6d2ea 9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69 g.chr3:178921553T>A ENST00000263967.3 + 5 1192 c.1035T>A c.(1033-1035)aaT>aaA p.N345K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 345 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.N345K(44) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) CCTACGTGAATGTAAATATTC 0.308 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 6 62 --- --- --- --- SLC26A1 10861 broad.mit.edu 37 4 985025 985025 + Missense_Mutation SNP C C T TCGA-HC-7078-01A-11D-2114-08 TCGA-HC-7078-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31caea4-427d-4b58-8a66-08aa09f6d2ea 9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69 g.chr4:985025C>T ENST00000361661.2 - 3 844 c.467G>A c.(466-468)gGa>gAa p.G156E SLC26A1_ENST00000398520.2_Missense_Mutation_p.G156E|SLC26A1_ENST00000398516.2_Missense_Mutation_p.G156E|IDUA_ENST00000453894.1_Intron|IDUA_ENST00000247933.4_Intron NM_213613.2 NP_998778.1 Q9H2B4 S26A1_HUMAN solute carrier family 26 (anion exchanger), member 1 156 integral to membrane|plasma membrane secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(23;0.0158) GCTGTTGGCTCCGGGCTGCAG 0.687 23 32 --- --- --- --- GRIA1 2890 broad.mit.edu 37 5 153144140 153144140 + Missense_Mutation SNP C C A TCGA-HC-7078-01A-11D-2114-08 TCGA-HC-7078-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31caea4-427d-4b58-8a66-08aa09f6d2ea 9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69 g.chr5:153144140C>A ENST00000285900.5 + 12 2313 c.1970C>A c.(1969-1971)aCa>aAa p.T657K GRIA1_ENST00000340592.5_Missense_Mutation_p.T657K|GRIA1_ENST00000518783.1_Missense_Mutation_p.T667K|GRIA1_ENST00000518142.1_Missense_Mutation_p.T577K|GRIA1_ENST00000521843.2_Missense_Mutation_p.T588K|GRIA1_ENST00000448073.4_Missense_Mutation_p.T667K NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 657 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GCGAAGCAGACAGAAATTGCC 0.502 13 39 --- --- --- --- EHD1 10938 broad.mit.edu 37 11 64622147 64622147 + Silent SNP C C T TCGA-HC-7078-01A-11D-2114-08 TCGA-HC-7078-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31caea4-427d-4b58-8a66-08aa09f6d2ea 9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69 g.chr11:64622147C>T ENST00000320631.3 - 5 1517 c.1263G>A c.(1261-1263)ccG>ccA p.P421P EHD1_ENST00000488711.1_5'UTR|EHD1_ENST00000359393.2_Silent_p.P421P NM_001282445.1|NM_006795.2 NP_001269374.1|NP_006786.2 Q9H4M9 EHD1_HUMAN EH-domain containing 1 421 blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 12 CGTGCCCGAACGGCCCGTTCA 0.667 13 147 --- --- --- --- MYO7A 4647 broad.mit.edu 37 11 76893185 76893185 + Silent SNP C C T TCGA-HC-7078-01A-11D-2114-08 TCGA-HC-7078-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31caea4-427d-4b58-8a66-08aa09f6d2ea 9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69 g.chr11:76893185C>T ENST00000409709.3 + 24 3365 c.3093C>T c.(3091-3093)gaC>gaT p.D1031D MYO7A_ENST00000409893.1_Silent_p.D1031D|MYO7A_ENST00000409619.2_Silent_p.D1020D|MYO7A_ENST00000458637.2_Silent_p.D1031D NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 1031 MyTH4 1. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 ACCATGACGACGAGGGTGACC 0.602 5 118 --- --- --- --- KRT5 3852 broad.mit.edu 37 12 52912785 52912785 + Missense_Mutation SNP G G A TCGA-HC-7078-01A-11D-2114-08 TCGA-HC-7078-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31caea4-427d-4b58-8a66-08aa09f6d2ea 9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69 g.chr12:52912785G>A ENST00000252242.4 - 2 1105 c.715C>T c.(715-717)Cgc>Tgc p.R239C NM_000424.3 NP_000415.2 P13647 K2C5_HUMAN keratin 5 239 Coil 1B.|Rod. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) GAGTCCAGGCGGCCCCGTTCC 0.587 6 272 --- --- --- --- TXNRD1 7296 broad.mit.edu 37 12 104742131 104742131 + Splice_Site SNP G G T TCGA-HC-7078-01A-11D-2114-08 TCGA-HC-7078-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31caea4-427d-4b58-8a66-08aa09f6d2ea 9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69 g.chr12:104742131G>T ENST00000526691.1 + 15 2044 c.1588G>T c.(1588-1590)Gta>Tta p.V530L TXNRD1_ENST00000529546.1_Splice_Site_p.V440L|TXNRD1_ENST00000540716.1_Splice_Site_p.V440L|TXNRD1_ENST00000354940.6_Splice_Site_p.V478L|TXNRD1_ENST00000524698.1_Splice_Site_p.V478L|TXNRD1_ENST00000427956.1_Splice_Site_p.V593L|TXNRD1_ENST00000526950.1_Splice_Site_p.V547L|TXNRD1_ENST00000429002.2_Splice_Site_p.V628L|TXNRD1_ENST00000526390.1_Splice_Site_p.V522L|TXNRD1_ENST00000525566.1_Splice_Site_p.V628L|TXNRD1_ENST00000397736.2_Splice_Site_p.V522L|TXNRD1_ENST00000503506.2_Splice_Site_p.V478L|TXNRD1_ENST00000388854.3_Splice_Site_p.V530L|TXNRD1_ENST00000378070.4_3'UTR|TXNRD1_ENST00000542918.1_Splice_Site_p.V528L NM_001261445.1|NM_003330.3 NP_001248374.1|NP_003321.3 Q16881 TRXR1_HUMAN thioredoxin reductase 1 628 cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport cytosol|nucleolus electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 16 TCCCCTGCAGGTATTCACAAC 0.498 63 119 --- --- --- --- CYFIP1 23191 broad.mit.edu 37 15 22945111 22945111 + Silent SNP G G A TCGA-HC-7078-01A-11D-2114-08 TCGA-HC-7078-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31caea4-427d-4b58-8a66-08aa09f6d2ea 9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69 g.chr15:22945111G>A ENST00000313077.7 + 12 1307 c.1182G>A c.(1180-1182)gcG>gcA p.A394A CYFIP1_ENST00000560848.1_Silent_p.A394A NM_014608.2 NP_055423.1 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 394 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) TCGACCTGGCGCTGCAGGGCC 0.706 11 16 --- --- --- --- CACNB1 782 broad.mit.edu 37 17 37334247 37334247 + Missense_Mutation SNP T T C TCGA-HC-7078-01A-11D-2114-08 TCGA-HC-7078-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31caea4-427d-4b58-8a66-08aa09f6d2ea 9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69 g.chr17:37334247T>C ENST00000394303.3 - 12 1343 c.1136A>G c.(1135-1137)cAg>cGg p.Q379R CACNB1_ENST00000394310.3_Missense_Mutation_p.Q379R|CACNB1_ENST00000344140.5_Missense_Mutation_p.Q424R NM_000723.4 NP_000714.3 Q02641 CACB1_HUMAN calcium channel, voltage-dependent, beta 1 subunit 379 axon guidance voltage-gated calcium channel complex breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661) AGGGGGGCACTGTGCCAGCTT 0.542 61 123 --- --- --- --- KANSL1 284058 broad.mit.edu 37 17 44116470 44116470 + Missense_Mutation SNP A A C TCGA-HC-7078-01A-11D-2114-08 TCGA-HC-7078-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31caea4-427d-4b58-8a66-08aa09f6d2ea 9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69 g.chr17:44116470A>C ENST00000262419.6 - 9 2785 c.2315T>G c.(2314-2316)cTc>cGc p.L772R KANSL1_ENST00000575318.1_Intron|KANSL1_ENST00000572904.1_Missense_Mutation_p.L772R|KANSL1_ENST00000432791.1_Missense_Mutation_p.L772R|KANSL1_ENST00000393476.3_Intron|KANSL1_ENST00000574590.1_Missense_Mutation_p.L772R NM_001193466.1 NP_001180395 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 772 MLL1 complex protein binding TGGTGGGTTGAGCAAGCGCTC 0.592 35 82 --- --- --- --- RECQL5 9400 broad.mit.edu 37 17 73627271 73627271 + Missense_Mutation SNP C C G TCGA-HC-7078-01A-11D-2114-08 TCGA-HC-7078-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31caea4-427d-4b58-8a66-08aa09f6d2ea 9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69 g.chr17:73627271C>G ENST00000317905.5 - 10 1666 c.1507G>C c.(1507-1509)Gag>Cag p.E503Q RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Missense_Mutation_p.E476Q NM_004259.6 NP_004250.4 O94762 RECQ5_HUMAN RecQ protein-like 5 503 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 36 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) AGGTTCCACTCCCGCTTGTGG 0.647 Other identified genes with known or suspected DNA repair function 43 71 --- --- --- --- SMAD2 4087 broad.mit.edu 37 18 45368305 45368305 + Missense_Mutation SNP T T C TCGA-HC-7078-01A-11D-2114-08 TCGA-HC-7078-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31caea4-427d-4b58-8a66-08aa09f6d2ea 9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69 g.chr18:45368305T>C ENST00000402690.2 - 11 1691 c.1297A>G c.(1297-1299)Agt>Ggt p.S433G SMAD2_ENST00000262160.6_Missense_Mutation_p.S433G|SMAD2_ENST00000586040.1_Missense_Mutation_p.S403G|SMAD2_ENST00000356825.4_Missense_Mutation_p.S403G NM_001003652.3 NP_001003652.1 Q15796 SMAD2_HUMAN SMAD family member 2 433 MH2. anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis activin responsive factor complex|cytosol activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1) 43 CAAGGAGTACTTGTTACCGTC 0.413 18 10 --- --- --- --- SPPL2B 56928 broad.mit.edu 37 19 2345262 2345262 + RNA SNP G G C TCGA-HC-7078-01A-11D-2114-08 TCGA-HC-7078-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31caea4-427d-4b58-8a66-08aa09f6d2ea 9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69 g.chr19:2345262G>C ENST00000452401.2 + 0 1365 Q8TCT7 PSL1_HUMAN signal peptide peptidase like 2B Golgi membrane|integral to membrane aspartic-type endopeptidase activity 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) GCTGCTGGTGGCCTACTGCCA 0.667 30 50 --- --- --- --- LRG1 116844 broad.mit.edu 37 19 4538288 4538288 + Silent SNP C C T TCGA-HC-7078-01A-11D-2114-08 TCGA-HC-7078-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31caea4-427d-4b58-8a66-08aa09f6d2ea 9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69 g.chr19:4538288C>T ENST00000306390.6 - 2 1168 c.708G>A c.(706-708)ccG>ccA p.P236P CTB-50L17.14_ENST00000586020.1_Intron NM_052972.2 NP_443204.1 P02750 A2GL_HUMAN leucine-rich alpha-2-glycoprotein 1 236 extracellular region|membrane NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) AGCGCAGGTCCGGCTGCGGCA 0.587 43 418 --- --- --- --- TMEM145 284339 broad.mit.edu 37 19 42820687 42820687 + Missense_Mutation SNP T T C TCGA-HC-7078-01A-11D-2114-08 TCGA-HC-7078-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31caea4-427d-4b58-8a66-08aa09f6d2ea 9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69 g.chr19:42820687T>C ENST00000598766.1 + 9 773 c.773T>C c.(772-774)aTt>aCt p.I258T TMEM145_ENST00000301204.3_Missense_Mutation_p.I234T Q8NBT3 TM145_HUMAN transmembrane protein 145 234 integral to membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 27 Prostate(69;0.00682) ACCGATGGCATTGGCAACGAG 0.552 11 81 --- --- --- --- TMEM189 387521 broad.mit.edu 37 20 48699408 48699408 + Missense_Mutation SNP G G A TCGA-HC-7078-01A-11D-2114-08 TCGA-HC-7078-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31caea4-427d-4b58-8a66-08aa09f6d2ea 9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69 g.chr20:48699408G>A ENST00000557021.1 - 8 1170 c.1010C>T c.(1009-1011)tCa>tTa p.S337L UBE2V1_ENST00000396059.3_5'UTR|UBE2V1_ENST00000415862.2_Missense_Mutation_p.S70L|UBE2V1_ENST00000420027.2_Missense_Mutation_p.S70L|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.S337L|UBE2V1_ENST00000371674.3_Missense_Mutation_p.S114L|UBE2V1_ENST00000340309.3_Missense_Mutation_p.S137L|UBE2V1_ENST00000371657.5_Missense_Mutation_p.S72L|UBE2V1_ENST00000371677.3_Missense_Mutation_p.S137L NM_199203.2 NP_954673 transmembrane protein 189 breast(1)|endometrium(2)|large_intestine(3)|lung(2) 8 BRCA - Breast invasive adenocarcinoma(9;3.02e-07) GATGCTATATGAATTCTGCCA 0.423 26 35 --- --- --- --- KCNJ4 3761 broad.mit.edu 37 22 38822859 38822859 + Missense_Mutation SNP G G A TCGA-HC-7078-01A-11D-2114-08 TCGA-HC-7078-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31caea4-427d-4b58-8a66-08aa09f6d2ea 9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69 g.chr22:38822859G>A ENST00000303592.3 - 2 1537 c.1279C>T c.(1279-1281)Cgc>Tgc p.R427C RP3-434P1.6_ENST00000433230.1_RNA NM_004981.1|NM_152868.2 NP_004972.1|NP_690607.1 P48050 IRK4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 4 427 synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 Melanoma(58;0.0286) GCCTGCATGCGCTCCAGGTCC 0.692 65 129 --- --- --- --- SPANXD 64648 broad.mit.edu 37 X 140785743 140785743 + Missense_Mutation SNP T T A TCGA-HC-7078-01A-11D-2114-08 TCGA-HC-7078-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31caea4-427d-4b58-8a66-08aa09f6d2ea 9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69 g.chrX:140785743T>A ENST00000370515.3 - 2 506 c.173A>T c.(172-174)aAc>aTc p.N58I NM_032417.2|NM_145665.1 NP_115793.1|NP_663698.1 SPANX family, member D breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Acute lymphoblastic leukemia(192;7.65e-05) TCTTTTAAAGTTCCTCCTGTA 0.483 21 203 --- --- --- --- MT-ND4 4538 broad.mit.edu 37 M 11280 11280 + Missense_Mutation SNP T T C TCGA-HC-7078-01A-11D-2114-08 TCGA-HC-7078-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31caea4-427d-4b58-8a66-08aa09f6d2ea 9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69 g.chrM:11280T>C ENST00000361381.2 + 1 521 c.521T>C c.(520-522)cTa>cCa p.L174P mitochondrially encoded NADH dehydrogenase 4 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1) 13 CCTAGGCTCACTAAACATTCT 0.428 3 2 --- --- --- ---