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 TTN 7273 broad.mit.edu 37 2 179611406 179611406 + Missense_Mutation SNP C C G rs147119153 TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr2:179611406C>G ENST00000360870.5 - 46 15943 c.15721G>C c.(15721-15723)Gaa>Caa p.E5241Q TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 8760 Ig-like 33. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E5241K(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTAGAAATTTCCAGTGAACAC 0.393000 10 155 0 0 0.006214 0 0 PDS5B 23047 broad.mit.edu 37 13 33344579 33344579 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr13:33344579C>G ENST00000315596.10 + 32 4131 c.3945C>G c.(3943-3945)agC>agG p.S1315R NM_015032.3 NP_055847.1 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) 1315 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 62 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) AAAAAGGAAGCAAAAAAAAAT 0.438000 4 34 0 0 0.014758 0 0 RPS6KA5 9252 broad.mit.edu 37 14 91389537 91389537 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr14:91389537C>G ENST00000261991.3 - 6 795 c.622G>C c.(622-624)Gaa>Caa p.E208Q RPS6KA5_ENST00000536315.2_Missense_Mutation_p.E129Q|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.E208Q NM_004755.2 NP_004746.2 O75582 KS6A5_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 5 208 Protein kinase 1. axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|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 cytoplasm|nucleoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146) Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201) TATGCTCTTTCAGTCTTGAAC 0.353000 6 37 0 0 0.021553 0 0 S100A8 6279 broad.mit.edu 37 1 153362715 153362715 + Missense_Mutation SNP T T C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr1:153362715T>C ENST00000368733.3 - 3 315 c.146A>G c.(145-147)aAg>aGg p.K49R S100A8_ENST00000477801.1_5'UTR|S100A8_ENST00000368732.1_Missense_Mutation_p.K49R NM_002964.4 NP_002955.2 P05109 S10A8_HUMAN S100 calcium binding protein A8 49 EF-hand 2. chemotaxis cytoplasm|cytoskeleton|plasma membrane calcium ion binding|protein binding breast(1)|endometrium(1)|lung(1)|urinary_tract(1) 4 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) GTCTGCACCCTTTTTCTGTCA 0.507000 3 151 0 0 0.009096 0 0 ZC3H7A 29066 broad.mit.edu 37 16 11862205 11862205 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr16:11862205C>G ENST00000396516.2 - 11 1523 c.1326G>C c.(1324-1326)ttG>ttC p.L442F ZC3H7A_ENST00000355758.4_Missense_Mutation_p.L442F Q8IWR0 Z3H7A_HUMAN zinc finger CCCH-type containing 7A 442 nucleus nucleic acid binding|zinc ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2) 25 AAGCTTGTCTCAATTCATGGG 0.413000 38 181 0 0 0.048971 0 0 IQGAP1 8826 broad.mit.edu 37 15 90934036 90934036 + Missense_Mutation SNP A A T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr15:90934036A>T ENST00000268182.5 + 2 210 c.86A>T c.(85-87)gAg>gTg p.E29V IQGAP1_ENST00000560738.1_Missense_Mutation_p.E29V NM_003870.3 NP_003861.1 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 29 energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) CTTACTGCAGAGGAGATGGAT 0.423000 10 103 0 0 0.013537 0 0 KAT6B 23522 broad.mit.edu 37 10 76788729 76788729 + Missense_Mutation SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr10:76788729G>C ENST00000287239.4 + 18 4636 c.4147G>C c.(4147-4149)Gat>Cat p.D1383H KAT6B_ENST00000372711.1_Missense_Mutation_p.D1200H|KAT6B_ENST00000372725.1_Missense_Mutation_p.D1091H|KAT6B_ENST00000372724.1_Missense_Mutation_p.D1091H|KAT6B_ENST00000372714.1_Missense_Mutation_p.D1091H NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 1383 histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding aaaagaTCCAGATGGTGCTAA 0.468000 7 46 0 0 0.029380 0 0 MED12 9968 broad.mit.edu 37 X 70346843 70346843 + Missense_Mutation SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chrX:70346843G>C ENST00000333646.6 + 20 2909 c.2710G>C c.(2710-2712)Gag>Cag p.E904Q MED12_ENST00000374102.1_Missense_Mutation_p.E904Q|MED12_ENST00000374080.3_Missense_Mutation_p.E904Q NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 904 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) GAGTGTAGTTGAGGCTGAGCT 0.542000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 10 102 0 0 0.008291 0 0 TRAPPC11 60684 broad.mit.edu 37 4 184626188 184626188 + Missense_Mutation SNP T T A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr4:184626188T>A ENST00000334690.6 + 27 3222 c.3020T>A c.(3019-3021)gTg>gAg p.V1007E TRAPPC11_ENST00000357207.4_Missense_Mutation_p.V1007E|TRAPPC11_ENST00000512476.1_Missense_Mutation_p.V613E NM_021942.5 NP_068761.4 Q7Z392 CD041_HUMAN trafficking protein particle complex 11 1007 CTGCCGCACGTGATTGTGGAG 0.393000 21 135 0 0 0.018920 0 0 ADRB2 154 broad.mit.edu 37 5 148206508 148206508 + Silent SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr5:148206508C>T ENST00000305988.4 + 1 353 c.114C>T c.(112-114)atC>atT p.I38I NM_000024.5 NP_000015.1 P07550 ADRB2_HUMAN adrenoceptor beta 2, surface 38 activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis endosome|integral to plasma membrane|lysosome|receptor complex beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373) GCATGGGCATCGTCATGTCTC 0.592000 16 127 0 0 0.038395 0 0 DRD3 1814 broad.mit.edu 37 3 113850003 113850003 + Missense_Mutation SNP C C A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr3:113850003C>A ENST00000383673.2 - 6 1398 c.968G>T c.(967-969)cGg>cTg p.R323L DRD3_ENST00000467632.1_Missense_Mutation_p.R323L|DRD3_ENST00000295881.7_Missense_Mutation_p.R290L|DRD3_ENST00000460779.1_Missense_Mutation_p.R323L NM_000796.3 NP_000787.2 P35462 DRD3_HUMAN dopamine receptor D3 323 activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1) 36 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) CTTCTTCTCCCGAAGTGGCAC 0.512000 22 109 7.41877e-09 8.21364e-09 0.012319 1 0 MAGEC1 9947 broad.mit.edu 37 X 140996182 140996182 + Missense_Mutation SNP C C A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chrX:140996182C>A ENST00000285879.4 + 4 3278 c.2992C>A c.(2992-2994)Cgc>Agc p.R998S MAGEC1_ENST00000406005.2_Missense_Mutation_p.R65S NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 998 MAGE. protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) GTCCCAGAACCGCCTCCTGAT 0.512000 HNSCC(15;0.026) 20 185 2.37509e-13 2.7126e-13 0.055883 1 0 FAM124A 220108 broad.mit.edu 37 13 51854623 51854623 + Missense_Mutation SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr13:51854623G>C ENST00000322475.8 + 4 1007 c.872G>C c.(871-873)aGa>aCa p.R291T FAM124A_ENST00000280057.6_Missense_Mutation_p.R327T NM_001242312.1 NP_001229241.1 Q86V42 F124A_HUMAN family with sequence similarity 124A 291 breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1) 26 Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;4.25e-07) AAACCTGGCAGAGTACATCAT 0.517000 8 46 0 0 0.047766 0 0 MKS1 54903 broad.mit.edu 37 17 56289744 56289744 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr17:56289744C>G ENST00000393119.2 - 9 984 c.910G>C c.(910-912)Gag>Cag p.E304Q MKS1_ENST00000537529.2_Missense_Mutation_p.E294Q|MKS1_ENST00000313863.6_Missense_Mutation_p.E304Q|MKS1_ENST00000546108.1_Missense_Mutation_p.E101Q|MKS1_ENST00000337050.7_Missense_Mutation_p.E304Q NM_017777.3 NP_060247.2 Q9NXB0 MKS1_HUMAN Meckel syndrome, type 1 304 cilium assembly centrosome|cilium|microtubule basal body protein binding endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 CTCACCATCTCAAAGTCGGTG 0.502000 18 84 0 0 0.014323 0 0 MST1R 4486 broad.mit.edu 37 3 49927421 49927421 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr3:49927421C>T ENST00000296474.3 - 19 3910 c.3883G>A c.(3883-3885)Gac>Aac p.D1295N MST1R_ENST00000344206.4_Missense_Mutation_p.D1246N NM_002447.2 NP_002438.2 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 1295 Protein kinase. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) TGGGTAAGGTCAAAAGGGTCA 0.602000 11 83 0 0 0.010729 0 0 C8orf34 116328 broad.mit.edu 37 8 69358708 69358708 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr8:69358708C>G ENST00000523686.1 + 3 411 c.362C>G c.(361-363)tCt>tGt p.S121C C8orf34_ENST00000518698.1_Intron|C8orf34_ENST00000349492.3_Intron|C8orf34_ENST00000539993.1_Intron|C8orf34_ENST00000348340.2_Intron|C8orf34_ENST00000337103.4_Intron Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 448 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) AAGGAAGTCTCTTATTCAAAT 0.338000 12 57 0 0 0.010729 0 0 LCMT2 9836 broad.mit.edu 37 15 43622444 43622444 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr15:43622444G>A ENST00000305641.5 - 1 359 c.244C>T c.(244-246)Cgc>Tgc p.R82C LCMT2_ENST00000544735.1_Intron|LCMT2_ENST00000567039.1_Intron NM_014793.4 NP_055608.2 O60294 LCMT2_HUMAN leucine carboxyl methyltransferase 2 82 tRNA processing methyltransferase activity|protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1) 20 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.1e-07) L-Leucine(DB00149) ATCTGCGCGCGAAGCGCGGCC 0.652000 5 48 0 0 0.014758 0 0 PDCL3 79031 broad.mit.edu 37 2 101188255 101188255 + Missense_Mutation SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr2:101188255G>C ENST00000264254.6 + 5 950 c.572G>C c.(571-573)aGa>aCa p.R191T NM_024065.4 NP_076970.1 Q9H2J4 PDCL3_HUMAN phosducin-like 3 191 apoptosis|interspecies interaction between organisms cytoplasm protein binding endometrium(3)|large_intestine(2)|liver(1)|lung(6) 12 AACCTGACAAGAGATGGTAAG 0.502000 30 162 0 0 0.045705 0 0 OR2AE1 81392 broad.mit.edu 37 7 99474426 99474426 + Silent SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr7:99474426G>A ENST00000316368.2 - 1 254 c.231C>T c.(229-231)atC>atT p.I77I NM_001005276.1 NP_001005276.1 Q8NHA4 O2AE1_HUMAN olfactory receptor, family 2, subfamily AE, member 1 77 I -> T (in dbSNP:rs2572023). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2) 11 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) TCTTCAGGATGATTGTGGAGA 0.483000 16 71 0 0 0.024245 0 0 SUPV3L1 6832 broad.mit.edu 37 10 70940261 70940261 + Nonsense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr10:70940261C>T ENST00000359655.4 + 1 274 c.214C>T c.(214-216)Cag>Tag p.Q72* SUPV3L1_ENST00000483572.1_3'UTR NM_003171.3 NP_003162.2 Q8IYB8 SUV3_HUMAN suppressor of var1, 3-like 1 (S. cerevisiae) 72 DNA duplex unwinding mitochondrial nucleoid|nucleus ATP binding|DNA binding|DNA helicase activity|RNA binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TGTGAAACCTCAGGGCCCCAG 0.637000 24 108 0 0 0.018920 0 0 TBC1D25 4943 broad.mit.edu 37 X 48417355 48417355 + Missense_Mutation SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chrX:48417355G>C ENST00000376771.4 + 4 800 c.459G>C c.(457-459)gaG>gaC p.E153D TBC1D25_ENST00000481090.1_3'UTR|TBC1D25_ENST00000537536.1_Intron|TBC1D25_ENST00000427713.1_3'UTR NM_002536.2 NP_002527.1 Q3MII6 TBC25_HUMAN TBC1 domain family, member 25 153 intracellular Rab GTPase activator activity large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 TGCTGGCTGAGAAACGGTCAT 0.537000 6 68 0 0 0.021553 0 0 GPR149 344758 broad.mit.edu 37 3 154146734 154146734 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr3:154146734C>T ENST00000389740.2 - 1 770 c.671G>A c.(670-672)aGa>aAa p.R224K NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 224 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GGAGTGGAGTCTCGGCGGCTC 0.577000 10 84 0 0 0.010729 0 0 WDR11 55717 broad.mit.edu 37 10 122619653 122619653 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr10:122619653C>T ENST00000263461.6 + 4 631 c.385C>T c.(385-387)Cgc>Tgc p.R129C NM_018117.11 NP_060587.8 Q9BZH6 WDR11_HUMAN WD repeat domain 11 129 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5) 38 AGATGCTTCCCGCGATTTACT 0.448000 26 89 0 0 0.030593 0 0 MAP1A 4130 broad.mit.edu 37 15 43814803 43814803 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr15:43814803G>A ENST00000382031.1 + 5 1877 c.1846G>A c.(1846-1848)Gag>Aag p.E616K MAP1A_ENST00000300231.5_Missense_Mutation_p.E378K|MAP1A_ENST00000399453.1_Missense_Mutation_p.E378K P78559 MAP1A_HUMAN microtubule-associated protein 1A 378 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) TGCCAAGCCTGAGAGGGTGAA 0.493000 4 29 0 0 0.009096 0 0 MTMR7 9108 broad.mit.edu 37 8 17157648 17157648 + Missense_Mutation SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr8:17157648G>C ENST00000180173.5 - 14 1740 c.1706C>G c.(1705-1707)tCt>tGt p.S569C MTMR7_ENST00000398099.3_Missense_Mutation_p.S160C NM_004686.4 NP_004677.3 Q9Y216 MTMR7_HUMAN myotubularin related protein 7 569 protein tyrosine phosphatase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 32 Colorectal(111;0.112) GTCTGAGGTAGAAAACCCTGA 0.438000 25 155 0 0 0.024334 0 0 SYPL1 6856 broad.mit.edu 37 7 105752650 105752650 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr7:105752650G>A ENST00000455385.2 - 1 127 c.5C>T c.(4-6)tCc>tTc p.S2F SYPL1_ENST00000011473.2_Missense_Mutation_p.S20F|SYPL1_ENST00000470347.1_Missense_Mutation_p.S2F NM_182715.2 NP_874384.1 Q16563 SYPL1_HUMAN synaptophysin-like 1 20 synaptic transmission cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle transporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1) 7 CTGGAAGCCGGACATCCTCTG 0.682000 7 53 0 0 0.029380 0 0 PKHD1 5314 broad.mit.edu 37 6 51934279 51934279 + Missense_Mutation SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr6:51934279G>C ENST00000371117.3 - 11 1029 c.754C>G c.(754-756)Ctt>Gtt p.L252V PKHD1_ENST00000340994.4_Missense_Mutation_p.L252V NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 252 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) TATAGGAAAAGATCCTGTTTA 0.453000 42 247 0 0 0.048971 0 0 MOCS2 4338 broad.mit.edu 37 5 52397223 52397223 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr5:52397223G>A ENST00000396954.3 - 5 1020 c.343C>T c.(343-345)Cca>Tca p.P115S MOCS2_ENST00000582677.1_Intron|MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000361377.4_Intron|MOCS2_ENST00000508922.1_3'UTR|MOCS2_ENST00000584946.1_3'UTR|MOCS2_ENST00000510818.2_3'UTR NM_004531.3 NP_004522.1 O96033 MOC2A_HUMAN molybdenum cofactor synthesis 2 0 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex nucleotide binding endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 5 Lung NSC(810;3.08e-05)|Breast(144;0.0848) TGTTTGACTGGCCATTTCTGC 0.358000 4 229 0 0 0.014758 0 0 NIM1K 167359 broad.mit.edu 37 5 43246074 43246074 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr5:43246074C>T ENST00000512796.1 + 2 1696 c.197C>T c.(196-198)aCg>aTg p.T66M NIM1_ENST00000326035.2_Missense_Mutation_p.T66M Q8IY84 NIM1_HUMAN 66 ATP binding|magnesium ion binding|protein serine/threonine kinase activity AGGGAGATCACGCTGGGGAAA 0.552000 14 102 0 0 0.024245 0 0 DIEXF 27042 broad.mit.edu 37 1 210012455 210012455 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr1:210012455G>A ENST00000491415.2 + 7 1321 c.1264G>A c.(1264-1266)Gat>Aat p.D422N NM_014388.6 NP_055203.4 Q68CQ4 DIEXF_HUMAN digestive organ expansion factor homolog (zebrafish) 422 multicellular organismal development nucleus breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2) 53 GGGCAATATTGATGACCACTT 0.428000 11 87 0 0 0.020292 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138418934 138418934 + Silent SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr7:138418934G>A ENST00000310018.2 - 16 1920 c.1638C>T c.(1636-1638)atC>atT p.I546I ATP6V0A4_ENST00000353492.4_Silent_p.I546I|ATP6V0A4_ENST00000393054.1_Silent_p.I546I NM_020632.2|NM_130840.2 NP_065683.2|NP_570855.2 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a4 546 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 CAATTCCCAGGATCACCGACA 0.428000 7 49 0 0 0.038147 0 0 SPINT1 6692 broad.mit.edu 37 15 41145359 41145359 + Missense_Mutation SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr15:41145359G>C ENST00000344051.4 + 3 747 c.513G>C c.(511-513)ttG>ttC p.L171F SPINT1_ENST00000431806.1_Missense_Mutation_p.L171F|SPINT1_ENST00000562057.1_Missense_Mutation_p.L171F O43278 SPIT1_HUMAN serine peptidase inhibitor, Kunitz type 1 171 extracellular region|membrane fraction protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) GCATAGACTTGAAGGTACAAC 0.557000 25 150 0 0 0.018920 0 0 MARCH11 441061 broad.mit.edu 37 5 16067874 16067874 + Silent SNP A A T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr5:16067874A>T ENST00000332432.8 - 4 1114 c.915T>A c.(913-915)gtT>gtA p.V305V NM_001102562.1 NP_001096032.1 A6NNE9 MARHB_HUMAN membrane-associated ring finger (C3HC4) 11 305 cytoplasmic vesicle membrane|integral to membrane ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1) 20 ACACTCTGTAAACTGCAGCTC 0.408000 6 46 0 0 0.038147 0 0 EDF1 8721 broad.mit.edu 37 9 139757370 139757370 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr9:139757370C>G ENST00000371648.4 - 4 380 c.373G>C c.(373-375)Gag>Cag p.E125Q EDF1_ENST00000371649.1_Missense_Mutation_p.E125Q|EDF1_ENST00000224073.1_Missense_Mutation_p.E125Q NM_153200.1 NP_694880.1 O60869 EDF1_HUMAN endothelial differentiation-related factor 1 125 HTH cro/C1-type. endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent cytoplasm|nucleolus|nucleus calmodulin binding|protein binding|sequence-specific DNA binding|transcription coactivator activity lung(1) 1 all_cancers(76;0.0841)|all_epithelial(76;0.217) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) ATGGCCCGCTCGATTTTGCCA 0.582000 12 83 0 0 0.013537 0 0 TTN 7273 broad.mit.edu 37 2 179529384 179529384 + Nonsense_Mutation SNP C C A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr2:179529384C>A ENST00000589042.1 - 167 36423 c.36199G>T c.(36199-36201)Gaa>Taa p.E12067* TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10214 Ig-like 80. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GATATACCTTCATCAGGAAGG 0.378000 11 69 4.68919e-08 5.16525e-08 0.008291 1 0 TSR1 55720 broad.mit.edu 37 17 2234280 2234280 + Silent SNP G G T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr17:2234280G>T ENST00000301364.4 - 9 2699 c.1620C>A c.(1618-1620)atC>atA p.I540I NM_018128.4 NP_060598.3 Q2NL82 TSR1_HUMAN TSR1, 20S rRNA accumulation, homolog (S. cerevisiae) 540 ribosome assembly nucleolus protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 20 CCTCTTTAAAGATGCTTTTCC 0.393000 7 66 2.0095e-06 2.15872e-06 0.029380 1 0 CCDC66 285331 broad.mit.edu 37 3 56605280 56605280 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr3:56605280G>A ENST00000394672.3 + 7 956 c.886G>A c.(886-888)Gaa>Aaa p.E296K CCDC66_ENST00000326595.7_Missense_Mutation_p.E262K|CCDC66_ENST00000436465.2_Missense_Mutation_p.E296K NM_001012506.4|NM_001141947.1 NP_001012524.4|NP_001135419.1 A2RUB6 CCD66_HUMAN coiled-coil domain containing 66 296 breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233) GAAAAAATCTGAAAGTGATAA 0.269000 15 89 0 0 0.020292 0 0 CWH43 80157 broad.mit.edu 37 4 49052833 49052833 + Missense_Mutation SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr4:49052833G>C ENST00000226432.4 + 15 2171 c.1988G>C c.(1987-1989)aGa>aCa p.R663T CWH43_ENST00000513409.1_Missense_Mutation_p.R636T NM_025087.2 NP_079363.2 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 663 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 ATAGACCACAGAGAAGTTTCT 0.398000 5 51 0 0 0.014758 0 0 DNAH1 25981 broad.mit.edu 37 3 52394093 52394093 + Silent SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr3:52394093G>A ENST00000420323.2 + 27 4830 c.4569G>A c.(4567-4569)ctG>ctA p.L1523L NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 1523 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TCTCACAGCTGAGGTGAGGAC 0.562000 20 93 0 0 0.014323 0 0 ZNF141 7700 broad.mit.edu 37 4 337651 337651 + Silent SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr4:337651G>A ENST00000240499.7 + 2 233 c.84G>A c.(82-84)ttG>ttA p.L28L ZNF141_ENST00000505939.1_Silent_p.L28L|ZNF141_ENST00000512994.1_Silent_p.L28L NM_003441.2 NP_003432.1 Q15928 ZN141_HUMAN zinc finger protein 141 28 KRAB. anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding p.L28L(1) breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1) 18 AGCAGAATTTGTATAGAGATG 0.388000 4 145 0 0 0.029380 0 0 IPO7 10527 broad.mit.edu 37 11 9456494 9456494 + Silent SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr11:9456494C>T ENST00000379719.3 + 19 2230 c.2088C>T c.(2086-2088)ctC>ctT p.L696L NM_006391.2 NP_006382.1 O95373 IPO7_HUMAN importin 7 696 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) TGATGCCCCTCCTTCATAATT 0.313000 9 81 0 0 0.006214 0 0 KLF6 1316 broad.mit.edu 37 10 3823969 3823969 + Silent SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr10:3823969C>G ENST00000497571.1 - 2 800 c.540G>C c.(538-540)tcG>tcC p.S180S KLF6_ENST00000173785.4_Intron|KLF6_ENST00000469435.1_Silent_p.S180S|KLF6_ENST00000542957.1_Silent_p.S180S NM_001160124.1|NM_001300.5 NP_001153596.1|NP_001291.3 Q99612 KLF6_HUMAN Kruppel-like factor 6 180 S -> L (found in gastric cancer samples; somatic mutation). B cell differentiation nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Colorectal(1;0.238) CTGGCTTCCCCGAAGTCCCGC 0.627000 OREG0019980 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 79 0 0 0.021553 0 0 GRIK3 2899 broad.mit.edu 37 1 37324810 37324810 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr1:37324810C>T ENST00000373091.3 - 7 1019 c.1003G>A c.(1003-1005)Gtg>Atg p.V335M GRIK3_ENST00000373093.4_Missense_Mutation_p.V335M NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 335 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) TGGTAGCACACGGACACGATA 0.622000 11 112 0 0 0.010729 0 0 ARPC2 10109 broad.mit.edu 37 2 219082227 219082227 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr2:219082227G>A ENST00000295685.10 + 1 295 c.34G>A c.(34-36)Gag>Aag p.E12K ARPC2_ENST00000315717.5_Missense_Mutation_p.E12K NM_005731.2 NP_005722.1 O15144 ARPC2_HUMAN actin related protein 2/3 complex, subunit 2, 34kDa 12 cellular component movement Arp2/3 protein complex|cell projection|Golgi apparatus actin binding|structural constituent of cytoskeleton cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1) 6 Renal(207;0.0474) Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103) CCGCATCATCGAGGAGACGCT 0.687000 6 36 0 0 0.038147 0 0 CAMKK1 84254 broad.mit.edu 37 17 3783646 3783646 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr17:3783646C>T ENST00000381771.2 - 10 1051 c.904G>A c.(904-906)Gag>Aag p.E302K CAMKK1_ENST00000158166.5_Missense_Mutation_p.E302K|CAMKK1_ENST00000381769.2_Missense_Mutation_p.E291K|CAMKK1_ENST00000348335.2_Missense_Mutation_p.E264K Q8N5S9 KKCC1_HUMAN calcium/calmodulin-dependent protein kinase kinase 1, alpha 264 Protein kinase. synaptic transmission cytosol|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1) 11 LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176) TCACAGTACTCGAGGCCCAGG 0.652000 7 38 0 0 0.047766 0 0 HSPA1L 3305 broad.mit.edu 37 6 31779660 31779660 + Silent SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr6:31779660G>A ENST00000375654.4 - 2 279 c.90C>T c.(88-90)atC>atT p.I30I HSPA1L_ENST00000417199.3_Silent_p.I30I NM_005527.3 NP_005518.3 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 30 response to unfolded protein ATP binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 CGTTGGCGATGATCTCCACCT 0.607000 8 120 0 0 0.038147 0 0 AXIN2 8313 broad.mit.edu 37 17 63537611 63537611 + Missense_Mutation SNP C C A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr17:63537611C>A ENST00000307078.5 - 4 1334 c.1021G>T c.(1021-1023)Gtg>Ttg p.V341L CTD-2535L24.2_ENST00000577662.1_3'UTR|AXIN2_ENST00000375702.5_Missense_Mutation_p.V341L NM_004655.3 NP_004646.3 Q9Y2T1 AXIN2_HUMAN axin 2 341 Interaction with GSK3B (By similarity). cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 34 TTGGCCTTCACACTGCGATGC 0.473000 Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome 15 117 5.35267e-07 5.77875e-07 0.043863 1 0 KRT74 121391 broad.mit.edu 37 12 52962128 52962128 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr12:52962128C>G ENST00000549343.1 - 8 1260 c.1222G>C c.(1222-1224)Gac>Cac p.D408H KRT74_ENST00000305620.2_Missense_Mutation_p.D394H Q7RTS7 K2C74_HUMAN keratin 74 394 Coil 2.|Rod. keratin filament structural molecule activity kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 BRCA - Breast invasive adenocarcinoma(357;0.191) AGGGCATTGTCTCCCCGCTGC 0.597000 10 62 0 0 0.006214 0 0 CPEB1 64506 broad.mit.edu 37 15 83215266 83215266 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr15:83215266C>G ENST00000563800.1 - 11 3306 c.1581G>C c.(1579-1581)caG>caC p.Q527H CPEB1_ENST00000568757.1_Missense_Mutation_p.Q425H|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568128.1_Missense_Mutation_p.Q500H|CPEB1_ENST00000562019.1_Missense_Mutation_p.Q505H|CPEB1_ENST00000450751.2_Missense_Mutation_p.Q425H|CPEB1_ENST00000398591.2_Missense_Mutation_p.Q430H|CPEB1_ENST00000398592.2_Missense_Mutation_p.Q274H|CPEB1_ENST00000564522.1_Missense_Mutation_p.Q425H|CPEB1_ENST00000423133.2_Missense_Mutation_p.Q425H|CPEB1_ENST00000261723.6_Missense_Mutation_p.Q503H|RP11-152F13.10_ENST00000562833.1_Missense_Mutation_p.R235T Q9BZB8 CPEB1_HUMAN cytoplasmic polyadenylation element binding protein 1 505 Necessary for stress granule assembly and correct localization in dcp1 bodies. mRNA processing|regulation of translation cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(143;0.229) AGGGGTCAATCTGAACCTGCA 0.483000 8 74 0 0 0.038147 0 0 APOH 350 broad.mit.edu 37 17 64216816 64216816 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr17:64216816G>A ENST00000205948.6 - 5 497 c.460C>T c.(460-462)Cgt>Tgt p.R154C NM_000042.2 NP_000033.2 P02749 APOH_HUMAN apolipoprotein H (beta-2-glycoprotein I) 154 Sushi 3. R -> H (in dbSNP:rs8178847). blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(6;9.74e-08) TTATAAACACGAAGTGTTGCA 0.383000 14 96 0 0 0.024245 0 0 ATP11A 23250 broad.mit.edu 37 13 113478732 113478732 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr13:113478732G>A ENST00000487903.1 + 10 953 c.865G>A c.(865-867)Gtg>Atg p.V289M ATP11A_ENST00000375645.3_Missense_Mutation_p.V289M|ATP11A_ENST00000375630.2_Missense_Mutation_p.V289M|ATP11A_ENST00000283558.8_Missense_Mutation_p.V289M P98196 AT11A_HUMAN ATPase, class VI, type 11A 289 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 51 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) GCGATCTGCCGTGGAAAAGTA 0.443000 13 85 0 0 0.020292 0 0 ING1 3621 broad.mit.edu 37 13 111372242 111372242 + Missense_Mutation SNP T T G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr13:111372242T>G ENST00000375774.3 + 2 1694 c.1232T>G c.(1231-1233)cTg>cGg p.L411R ING1_ENST00000333219.7_Missense_Mutation_p.L268R|ING1_ENST00000338450.7_Missense_Mutation_p.L224R|ING1_ENST00000375775.3_Missense_Mutation_p.L199R NM_005537.4 NP_005528.3 Q9UK53 ING1_HUMAN inhibitor of growth family, member 1 411 cell cycle|negative regulation of cell growth|negative regulation of cell proliferation nucleus zinc ion binding endometrium(4)|large_intestine(6)|lung(1)|ovary(1) 12 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.188) GACAAAGCCCTGGAGAAATCC 0.507000 8 26 0 0 0.038147 0 0 ZBTB3 79842 broad.mit.edu 37 11 62520951 62520951 + Missense_Mutation SNP A A T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr11:62520951A>T ENST00000394807.3 - 2 461 c.336T>A c.(334-336)gaT>gaA p.D112E NM_024784.3 NP_079060.1 Q9H5J0 ZBTB3_HUMAN zinc finger and BTB domain containing 3 112 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2) 24 TACACACCAGATCCCTCTTGT 0.547000 16 71 0 0 0.033300 0 0 TP53I11 9537 broad.mit.edu 37 11 44956498 44956498 + Silent SNP G G T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr11:44956498G>T ENST00000533940.1 - 10 1111 c.507C>A c.(505-507)ctC>ctA p.L169L TP53I11_ENST00000525680.1_Silent_p.L169L|TP53I11_ENST00000308212.5_Silent_p.L169L|TP53I11_ENST00000395648.3_Silent_p.L169L NM_001258320.1 NP_001245249.1 O14683 P5I11_HUMAN tumor protein p53 inducible protein 11 169 negative regulation of cell proliferation|response to stress integral to membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1) 5 CGACAAAAAGGAGGCGGCTGA 0.617000 19 137 7.92952e-12 9.00893e-12 0.021523 1 0 PKHD1 5314 broad.mit.edu 37 6 51612823 51612823 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr6:51612823C>G ENST00000371117.3 - 58 9866 c.9591G>C c.(9589-9591)caG>caC p.Q3197H PKHD1_ENST00000340994.4_Missense_Mutation_p.Q3197H NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3197 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) TAAGCACAATCTGCACTTTTT 0.423000 27 164 0 0 0.027356 0 0 MCM3 4172 broad.mit.edu 37 6 52129419 52129419 + Silent SNP G G T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr6:52129419G>T ENST00000596288.1 - 17 2556 c.2529C>A c.(2527-2529)gtC>gtA p.V843V MCM3_ENST00000419835.2_Silent_p.V752V|MCM3_ENST00000229854.7_Silent_p.V798V NM_002388.4 NP_002379.3 P25205 MCM3_HUMAN minichromosome maintenance complex component 3 798 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm ATP binding|DNA binding|helicase activity|protein binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Lung NSC(77;0.0931) CAGACACCATGACCTGATTGT 0.532000 11 139 0.000978159 0.00102541 0.010729 1 0 LEPR 3953 broad.mit.edu 37 1 66102651 66102651 + Nonsense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr1:66102651C>T ENST00000349533.6 + 20 3636 c.3451C>T c.(3451-3453)Cag>Tag p.Q1151* LEPR_ENST00000406510.3_Nonsense_Mutation_p.Q218* NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 1151 energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) TTGTTCTACTCAGACTCATAA 0.338000 5 91 0 0 0.021553 0 0 BORA 79866 broad.mit.edu 37 13 73327930 73327930 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr13:73327930G>A ENST00000390667.5 + 11 1682 c.1585G>A c.(1585-1587)Gag>Aag p.E529K BORA_ENST00000377815.3_Missense_Mutation_p.E459K NM_024808.2 NP_079084.2 Q6PGQ7 BORA_HUMAN bora, aurora kinase A activator 529 cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization protein kinase binding ATGTGAAGTTGAGAGTAAATC 0.313000 6 70 0 0 0.038147 0 0 TNRC6A 27327 broad.mit.edu 37 16 24800705 24800705 + Missense_Mutation SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr16:24800705G>C ENST00000395799.3 + 6 871 c.742G>C c.(742-744)Gag>Cag p.E248Q TNRC6A_ENST00000315183.7_Missense_Mutation_p.E248Q NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 248 Ser-rich. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) CAGTGATCCGGAGTTGGCTTC 0.458000 10 122 0 0 0.006214 0 0 ARHGAP28 79822 broad.mit.edu 37 18 6890002 6890002 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr18:6890002C>G ENST00000419673.2 + 12 1392 c.1175C>G c.(1174-1176)tCt>tGt p.S392C ARHGAP28_ENST00000531294.1_Missense_Mutation_p.S387C|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.S551C|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.S374C|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.S499C|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.S392C|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.S551C|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.S392C NM_001010000.2 NP_001010000.1 B4DXL2 B4DXL2_HUMAN Rho GTPase activating protein 28 374 signal transduction intracellular breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 37 Colorectal(10;0.168) AGCAAACACTCTGATTATGAA 0.398000 12 85 0 0 0.010729 0 0 KIF3A 11127 broad.mit.edu 37 5 132051521 132051521 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr5:132051521C>G ENST00000378746.4 - 8 1275 c.1057G>C c.(1057-1059)Gaa>Caa p.E353Q KIF3A_ENST00000403231.1_Missense_Mutation_p.E353Q|KIF3A_ENST00000378735.1_Missense_Mutation_p.E353Q|AC004237.1_ENST00000431165.1_RNA NM_007054.5 NP_008985.3 Q9Y496 KIF3A_HUMAN kinesin family member 3A 353 blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule centrosome|cytosol|kinesin II complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|protein binding endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 25 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TTTGGATCTTCATTAATTCTA 0.333000 9 48 0 0 0.047766 0 0 HAUS8 93323 broad.mit.edu 37 19 17170416 17170416 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr19:17170416G>A ENST00000593360.1 - 5 2206 c.188C>T c.(187-189)tCa>tTa p.S63L HAUS8_ENST00000448593.2_Missense_Mutation_p.S123L|HAUS8_ENST00000253669.5_Missense_Mutation_p.S124L Q9BT25 HAUS8_HUMAN HAUS augmin-like complex, subunit 8 124 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1) 12 AGGTTTCTTTGATATTGTTTT 0.428000 13 78 0 0 0.024245 0 0 BEGAIN 57596 broad.mit.edu 37 14 101012923 101012923 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr14:101012923C>T ENST00000443071.2 - 2 236 c.91G>A c.(91-93)Gag>Aag p.E31K BEGAIN_ENST00000554747.1_5'UTR|BEGAIN_ENST00000355173.2_Missense_Mutation_p.E31K|BEGAIN_ENST00000556751.1_5'UTR NM_001159531.1 NP_001153003.1 Q9BUH8 BEGIN_HUMAN brain-enriched guanylate kinase-associated 31 cytoplasm|membrane protein binding cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1) 14 Melanoma(154;0.212) GAGTCGAACTCGGTCTCGAGC 0.677000 9 51 0 0 0.006214 0 0 POTEE 445582 broad.mit.edu 37 2 132021797 132021797 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr2:132021797C>G ENST00000356920.5 + 15 2863 c.2769C>G c.(2767-2769)ttC>ttG p.F923L PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 923 Actin-like. ATP binding CCCTGGACTTCGAGCAGGAGA 0.597000 17 383 0 0 0.049695 0 0 MARVELD2 153562 broad.mit.edu 37 5 68715437 68715437 + Silent SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr5:68715437C>G ENST00000325631.5 + 2 299 c.225C>G c.(223-225)ctC>ctG p.L75L MARVELD2_ENST00000413223.2_Silent_p.L75L NM_001038603.2|NM_001244734.1 NP_001033692.2|NP_001231663.1 Q8N4S9 MALD2_HUMAN MARVEL domain containing 2 75 sensory perception of sound integral to membrane|tight junction NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1) 15 Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183) CGCCAGATCTCAAACCAGTAA 0.522000 9 66 0 0 0.006214 0 0 TMED6 146456 broad.mit.edu 37 16 69385485 69385485 + Missense_Mutation SNP G G T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr16:69385485G>T ENST00000288025.3 - 1 227 c.172C>A c.(172-174)Caa>Aaa p.Q58K RP11-343C2.7_ENST00000564737.1_Missense_Mutation_p.A50E|RP11-343C2.9_ENST00000563634.1_Intron NM_144676.3 NP_653277.2 Q8WW62 TMED6_HUMAN transmembrane emp24 protein transport domain containing 6 58 GOLD. transport endoplasmic reticulum membrane|integral to membrane breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1) 9 TGGGCAAATTGCCAAAAGCAT 0.483000 17 131 5.35267e-07 5.77875e-07 0.043863 1 0 CNOT4 4850 broad.mit.edu 37 7 135098284 135098284 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr7:135098284G>A ENST00000428680.2 - 6 919 c.640C>T c.(640-642)Cat>Tat p.H214Y CNOT4_ENST00000356162.4_Missense_Mutation_p.H214Y|CNOT4_ENST00000541284.1_Missense_Mutation_p.H214Y|CNOT4_ENST00000423368.2_Missense_Mutation_p.H214Y|CNOT4_ENST00000315544.5_Missense_Mutation_p.H214Y|CNOT4_ENST00000361528.4_Missense_Mutation_p.H214Y|CNOT4_ENST00000451834.1_Missense_Mutation_p.H214Y|CNOT4_ENST00000414802.1_Missense_Mutation_p.H214Y NM_001008225.2 NP_001008226.1 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 214 nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 CCCAATTCATGAAGATACATG 0.408000 12 84 0 0 0.013537 0 0 AOX1 316 broad.mit.edu 37 2 201485524 201485524 + Missense_Mutation SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr2:201485524G>C ENST00000374700.2 + 17 2097 c.1856G>C c.(1855-1857)aGa>aCa p.R619T AOX1_ENST00000485106.1_Intron NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 619 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) ACTAGTTCAAGAGCTCATGCT 0.423000 9 35 0 0 0.008291 0 0 CSNK1E 1454 broad.mit.edu 37 22 38698935 38698935 + Silent SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr22:38698935G>C ENST00000396832.1 - 4 527 c.267C>G c.(265-267)ctC>ctG p.L89L CSNK1E_ENST00000403904.1_Silent_p.L89L|CSNK1E_ENST00000400206.2_Silent_p.L89L|CSNK1E_ENST00000359867.3_Silent_p.L89L|CSNK1E_ENST00000413574.2_Silent_p.L89L|CSNK1E_ENST00000405675.3_Silent_p.L89L NM_152221.2 NP_689407.1 P49674 KC1E_HUMAN casein kinase 1, epsilon 89 Protein kinase. DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 Melanoma(58;0.045) ACAGGTCCTCGAGGCTAGGCC 0.622000 16 89 0 0 0.038395 0 0 EPS8 2059 broad.mit.edu 37 12 15784565 15784565 + Missense_Mutation SNP C C T rs145919374 TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr12:15784565C>T ENST00000281172.5 - 18 2291 c.1855G>A c.(1855-1857)Gat>Aat p.D619N EPS8_ENST00000543612.1_Missense_Mutation_p.D619N|EPS8_ENST00000542903.1_Missense_Mutation_p.D359N|EPS8_ENST00000543523.1_Missense_Mutation_p.D619N|EPS8_ENST00000540613.1_Missense_Mutation_p.D359N NM_004447.5 NP_004438.3 Q12929 EPS8_HUMAN epidermal growth factor receptor pathway substrate 8 619 Pro-rich. cell proliferation|epidermal growth factor receptor signaling pathway SH3/SH2 adaptor activity NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244) BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264) GGGGGAGTATCAGCTGGTCTT 0.438000 7 67 0 0 0.038147 0 0 GP5 2814 broad.mit.edu 37 3 194118459 194118459 + Missense_Mutation SNP G G T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr3:194118459G>T ENST00000401815.1 - 1 624 c.553C>A c.(553-555)Ctg>Atg p.L185M GP5_ENST00000323007.3_Missense_Mutation_p.L185M P40197 GPV_HUMAN glycoprotein V (platelet) 185 blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 35 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) CCCTTGGGCAGGTGGGTCAGG 0.542000 19 83 9.7654e-05 0.00010337 0.043863 1 0 USP31 57478 broad.mit.edu 37 16 23116891 23116891 + Silent SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr16:23116891G>A ENST00000219689.7 - 5 959 c.960C>T c.(958-960)ctC>ctT p.L320L NM_020718.3 NP_065769.3 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 320 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) CAGTGACATAGAGAGGCCTGT 0.418000 11 52 0 0 0.013537 0 0 NELFA 7469 broad.mit.edu 37 4 1985419 1985419 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr4:1985419C>G ENST00000382882.3 - 10 2456 c.1339G>C c.(1339-1341)Gag>Cag p.E447Q NELFA_ENST00000542778.1_Missense_Mutation_p.E301Q|NELFA_ENST00000411638.1_Missense_Mutation_p.E436Q NM_005663.4 NP_005654.3 negative elongation factor complex member A AACATCTGCTCTCTCTACAGC 0.667000 8 47 0 0 0.047766 0 0 FZD6 8323 broad.mit.edu 37 8 104336827 104336827 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr8:104336827C>G ENST00000358755.4 + 4 810 c.493C>G c.(493-495)Ctt>Gtt p.L165V FZD6_ENST00000540287.1_Intron|FZD6_ENST00000523739.1_Missense_Mutation_p.L133V|FZD6_ENST00000522566.1_Missense_Mutation_p.L165V NM_001164616.1|NM_003506.3 NP_001158088.1|NP_003497.2 O60353 FZD6_HUMAN frizzled family receptor 6 165 angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197) TCCAAGGCATCTTAAGACTTC 0.428000 22 139 0 0 0.055883 0 0 CASP8 841 broad.mit.edu 37 2 202131505 202131505 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr2:202131505C>T ENST00000358485.4 + 2 669 c.473C>T c.(472-474)tCt>tTt p.S158F CASP8_ENST00000432109.2_Missense_Mutation_p.S99F|CASP8_ENST00000392259.2_Missense_Mutation_p.S99F|CASP8_ENST00000392258.3_Missense_Mutation_p.S99F|CASP8_ENST00000392266.3_Missense_Mutation_p.S99F|CASP8_ENST00000264274.9_Missense_Mutation_p.S99F|CASP8_ENST00000264275.5_Missense_Mutation_p.S99F|CASP8_ENST00000323492.7_Missense_Mutation_p.S99F NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 99 DED 2. activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 GCTCAAATTTCTGCCTACAGG 0.493000 HNSCC(4;0.00038) 5 42 0 0 0.014758 0 0 SLC27A2 11001 broad.mit.edu 37 15 50519205 50519205 + Silent SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr15:50519205C>T ENST00000267842.5 + 7 1519 c.1287C>T c.(1285-1287)atC>atT p.I429I SLC27A2_ENST00000380902.4_Silent_p.I376I|SLC27A2_ENST00000544960.1_Silent_p.I194I NM_003645.3 NP_003636.2 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid transporter), member 2 429 bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) TTTGCAAAATCACACAACTTA 0.358000 5 43 0 0 0.021553 0 0 ZNF697 90874 broad.mit.edu 37 1 120168657 120168657 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr1:120168657C>G ENST00000421812.2 - 2 186 c.67G>C c.(67-69)Gat>Cat p.D23H NM_001080470.1 NP_001073939.1 Q5TEC3 ZN697_HUMAN zinc finger protein 697 23 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266) Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577) TCCTCAAAATCAGAACCCATC 0.498000 23 209 0 0 0.034045 0 0 NMUR1 10316 broad.mit.edu 37 2 232392867 232392867 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr2:232392867C>T ENST00000305141.4 - 2 998 c.865G>A c.(865-867)Gat>Aat p.D289N NM_006056.4 NP_006047.3 Q9HB89 NMUR1_HUMAN neuromedin U receptor 1 289 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction integral to plasma membrane|membrane fraction neuromedin U receptor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1) 24 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) CGGCCCCGATCGTGCTGCTGG 0.652000 11 74 0 0 0.010729 0 0 LPO 4025 broad.mit.edu 37 17 56345268 56345268 + Silent SNP C C T rs3744104 TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr17:56345268C>T ENST00000262290.4 + 13 2368 c.2052C>T c.(2050-2052)ttC>ttT p.F684F LPO_ENST00000421678.2_Silent_p.F601F|LPO_ENST00000582328.1_Silent_p.F601F|LPO_ENST00000543544.1_Silent_p.F625F NM_006151.2 NP_006142.1 P22079 PERL_HUMAN lactoperoxidase 684 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 GGGACCCATTCTGGGCCAACA 0.572000 18 104 0 0 0.055883 0 0 SLC12A1 6557 broad.mit.edu 37 15 48500096 48500096 + Silent SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr15:48500096C>T ENST00000396577.3 + 2 395 c.180C>T c.(178-180)atC>atT p.I60I SLC12A1_ENST00000558405.1_Silent_p.I60I|SLC12A1_ENST00000380993.3_Silent_p.I60I|SLC12A1_ENST00000561031.1_Silent_p.I60I|SLC12A1_ENST00000330289.6_Silent_p.I60I NM_001184832.1 NP_001171761.1 Q13621 S12A1_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 1 60 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1) 59 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) GACTCAGAATCAGCTTTAGGC 0.438000 9 62 0 0 0.047766 0 0 GNPTAB 79158 broad.mit.edu 37 12 102153834 102153834 + Nonsense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr12:102153834G>A ENST00000299314.7 - 16 3485 c.3223C>T c.(3223-3225)Cag>Tag p.Q1075* NM_024312.4 NP_077288.2 Q3T906 GNPTA_HUMAN N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits 1075 cell differentiation Golgi membrane|integral to membrane|nucleus metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity p.Q1075*(1) NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 37 TAGGATTCCTGAGTTGGTGGA 0.368000 13 89 0 0 0.024245 0 0 ADAM22 53616 broad.mit.edu 37 7 87782587 87782587 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr7:87782587C>T ENST00000398204.4 + 21 2056 c.1733C>T c.(1732-1734)aCg>aTg p.T578M ADAM22_ENST00000398209.3_Missense_Mutation_p.T578M|ADAM22_ENST00000315984.7_Missense_Mutation_p.T578M|ADAM22_ENST00000398201.4_Missense_Mutation_p.T578M|ADAM22_ENST00000265727.7_Missense_Mutation_p.T578M NM_016351.4|NM_021723.3 NP_057435.2|NP_068369.1 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 578 Cys-rich. cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) ATTGAAGGGACGGAGAAGGGT 0.433000 6 46 0 0 0.038147 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178563011 178563011 + Missense_Mutation SNP T T C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr5:178563011T>C ENST00000251582.7 - 13 2085 c.1984A>G c.(1984-1986)Agg>Ggg p.R662G NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 662 Cys-rich. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CCGGTCTCCCTGGACTCGCAG 0.632000 5 144 0 0 0.014758 0 0 ZNF208 7757 broad.mit.edu 37 19 22154039 22154039 + Nonsense_Mutation SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr19:22154039G>C ENST00000397126.4 - 4 3945 c.3797C>G c.(3796-3798)tCa>tGa p.S1266* ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) ACTGAAGACTGATAACCAGCT 0.388000 6 56 0 0 0.021553 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971029 21971029 + Nonsense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr9:21971029C>T ENST00000304494.5 - 2 599 c.329G>A c.(328-330)tGg>tAg p.W110* CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000361570.3_Silent_p.L165L|CDKN2A_ENST00000579755.1_Silent_p.L124L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000530628.2_Silent_p.L124L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110* NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 110 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.?(44)|p.W110*(13)|p.L165L(2)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(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) CAGACGGCCCCAGGCATCGCG 0.731000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 5 25 0 0 0.014758 0 0 PIK3CA 5290 broad.mit.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G rs121913279 TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr3:178952085A>G ENST00000263967.3 + 21 3297 c.3140A>G c.(3139-3141)cAt>cGt p.H1047R NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1047 PI3K/PI4K. H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer). 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.H1047R(1387)|p.H1047L(194)|p.H1047P(1) 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) AATGATGCACATCATGGTGGC 0.378000 H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 7 53 0 0 0.038147 0 0 STUB1 10273 broad.mit.edu 37 16 731286 731286 + Silent SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr16:731286C>T ENST00000565677.1 + 2 685 c.78C>T c.(76-78)ttC>ttT p.F26F STUB1_ENST00000566181.2_3'UTR|STUB1_ENST00000219548.4_Silent_p.F98F|STUB1_ENST00000564370.1_Silent_p.F26F Q9UNE7 CHIP_HUMAN STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase 98 cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 6 Hepatocellular(780;0.00335) AGGCGCACTTCTTCCTGGGGC 0.652000 3 27 0 0 0.009096 0 0 MRGPRE 116534 broad.mit.edu 37 11 3249416 3249416 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr11:3249416C>T ENST00000389832.5 - 2 920 c.614G>A c.(613-615)cGa>cAa p.R205Q MRGPRE_ENST00000436689.2_Missense_Mutation_p.R204Q|AC109309.4_ENST00000418995.2_RNA Q86SM8 MRGRE_HUMAN MAS-related GPR, member E 204 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 19 Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19) CTGGGGGCCTCGCTCCACCCG 0.682000 3 8 0 0 0.004672 0 0 EP300 2033 broad.mit.edu 37 22 41556666 41556666 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr22:41556666G>A ENST00000263253.7 + 20 4830 c.3611G>A c.(3610-3612)tGt>tAt p.C1204Y NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1204 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding p.Y1198_L1243del(1) NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 TGTGAGAAGTGTTTCAATGAG 0.468000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 19 85 0 0 0.016522 0 0 ZNF366 167465 broad.mit.edu 37 5 71757020 71757020 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr5:71757020C>G ENST00000318442.5 - 2 794 c.304G>C c.(304-306)Gag>Cag p.E102Q NM_152625.1 NP_689838.1 Q8N895 ZN366_HUMAN zinc finger protein 366 102 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) TTGTTCTCCTCTGAGTGGAGG 0.582000 54 232 0 0 0.048971 0 0 MTX1 4580 broad.mit.edu 37 1 155178627 155178627 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr1:155178627G>A ENST00000368376.3 + 1 138 c.32G>A c.(31-33)cGc>cAc p.R11H MTX1_ENST00000316721.4_Missense_Mutation_p.R11H NM_002455.3 NP_002446.2 Q13505 MTX1_HUMAN metaxin 1 11 protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane protein binding breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1) 7 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) 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) CGCAGTCCCCGCTCGGGGACG 0.677000 3 20 0 0 0.009096 0 0 SNRNP70 6625 broad.mit.edu 37 19 49610936 49610936 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr19:49610936C>T ENST00000221448.5 + 9 828 c.632C>T c.(631-633)tCa>tTa p.S211L SNRNP70_ENST00000598441.1_Missense_Mutation_p.S211L NM_003089.4 NP_003080.2 P08621 RU17_HUMAN small nuclear ribonucleoprotein 70kDa (U1) 211 nuclear mRNA splicing, via spliceosome|regulation of RNA splicing nucleoplasm|spliceosomal complex nucleotide binding|protein binding|RNA binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2) 12 ATCCGGCATTCAGGCCGCGAT 0.657000 12 63 0 0 0.016723 0 0 STK38L 23012 broad.mit.edu 37 12 27461352 27461352 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr12:27461352C>G ENST00000389032.3 + 4 436 c.267C>G c.(265-267)gaC>gaG p.D89E STK38L_ENST00000539577.1_Intron NM_015000.3 NP_055815.1 Q9Y2H1 ST38L_HUMAN serine/threonine kinase 38 like 89 intracellular protein kinase cascade|regulation of cellular component organization actin cytoskeleton|cytoplasm actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1) 12 Colorectal(261;0.0847) GCTTGGATGACTTTGAGTCTC 0.353000 33 133 0 0 0.021022 0 0 NRXN3 9369 broad.mit.edu 37 14 80158584 80158584 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr14:80158584G>A ENST00000428277.2 + 4 1056 c.670G>A c.(670-672)Gag>Aag p.E224K NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000557594.1_Intron|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000281127.7_Intron NM_001105250.1 NP_001098720.1 Q9HDB5 NRX3B_HUMAN neurexin 3 200 Laminin G-like. angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) TCGGCCTGTAGAGGAGTGGCT 0.338000 6 47 0 0 0.029380 0 0 NAP1L2 4674 broad.mit.edu 37 X 72433878 72433878 + Missense_Mutation SNP T T C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chrX:72433878T>C ENST00000373517.3 - 1 806 c.451A>G c.(451-453)Aga>Gga p.R151G NAP1L2_ENST00000536638.1_Missense_Mutation_p.R9G NM_021963.3 NP_068798.1 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 151 nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) ATCTGACGTCTTTTTTCCAGT 0.383000 3 205 0 0 0.009096 0 0 DISP2 85455 broad.mit.edu 37 15 40661167 40661167 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr15:40661167G>A ENST00000267889.3 + 8 2941 c.2854G>A c.(2854-2856)Gag>Aag p.E952K RP11-64K12.4_ENST00000558421.1_RNA NM_033510.1 NP_277045.1 A7MBM2 DISP2_HUMAN dispatched homolog 2 (Drosophila) 952 smoothened signaling pathway integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) TAGCCGTCTAGAGCTGTATAG 0.632000 19 103 0 0 0.049695 0 0 CDCA5 113130 broad.mit.edu 37 11 64846603 64846603 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr11:64846603C>G ENST00000275517.3 - 6 907 c.735G>C c.(733-735)gaG>gaC p.E245D CDCA5_ENST00000404147.3_Missense_Mutation_p.E300D NM_080668.3 NP_542399.1 Q96FF9 CDCA5_HUMAN cell division cycle associated 5 245 cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin cytoplasm|nuclear chromatin|plasma membrane chromatin binding|identical protein binding large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GATCAAACTGCTCAGCAGCTT 0.552000 4 34 0 0 0.009096 0 0 CACNA1S 779 broad.mit.edu 37 1 201047194 201047194 + Missense_Mutation SNP C C T rs9333651 TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr1:201047194C>T ENST00000362061.3 - 11 1658 c.1432G>A c.(1432-1434)Gag>Aag p.E478K CACNA1S_ENST00000367338.3_Missense_Mutation_p.E478K NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 478 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) ATCAGCATCTCAGTGGTGAAG 0.567000 22 100 0 0 0.014323 0 0 PCP4L1 654790 broad.mit.edu 37 1 161254169 161254169 + Silent SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr1:161254169G>A ENST00000504449.1 + 3 353 c.105G>A c.(103-105)gaG>gaA p.E35E NM_001102566.1 NP_001096036.1 A6NKN8 PC4L1_HUMAN Purkinje cell protein 4 like 1 35 endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 all_cancers(52;4.16e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) AGGAGGAGGAGATTGACATTG 0.488000 9 93 0 0 0.008291 0 0 ZNF182 7569 broad.mit.edu 37 X 47837082 47837082 + Missense_Mutation SNP C C G rs140603964 TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chrX:47837082C>G ENST00000396965.1 - 7 754 c.404G>C c.(403-405)cGt>cCt p.R135P ZNF182_ENST00000305127.6_Missense_Mutation_p.R135P|ZNF182_ENST00000376943.3_Missense_Mutation_p.R116P NM_001178099.1 NP_001171570.1 P17025 ZN182_HUMAN zinc finger protein 182 135 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1) 22 ATGACAGTCACGAGCACTCTT 0.378000 14 85 0 0 0.020292 0 0 THEG 51298 broad.mit.edu 37 19 362264 362264 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr19:362264G>A ENST00000342640.4 - 8 1118 c.1076C>T c.(1075-1077)tCt>tTt p.S359F THEG_ENST00000346878.2_Missense_Mutation_p.S335F NM_016585.4 NP_057669.1 Q9P2T0 THEG_HUMAN theg spermatid protein 359 cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1) 29 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) CAAGCTCATAGAGGCGAGGGG 0.602000 24 152 0 0 0.024334 0 0 UBASH3A 53347 broad.mit.edu 37 21 43862566 43862566 + Silent SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr21:43862566C>G ENST00000319294.6 + 12 1522 c.1491C>G c.(1489-1491)ctC>ctG p.L497L UBASH3A_ENST00000398367.1_Silent_p.L459L|UBASH3A_ENST00000291535.6_Silent_p.L459L NM_018961.3 NP_061834.1 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing A 497 Phosphatase-like. cytosol|nucleus p.L497L(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 ATCCAGAACTCAAACTGGAGA 0.428000 19 113 0 0 0.049695 0 0 WWP2 11060 broad.mit.edu 37 16 69969816 69969816 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr16:69969816C>T ENST00000359154.2 + 18 2004 c.1903C>T c.(1903-1905)Ctc>Ttc p.L635F WWP2_ENST00000542271.1_Missense_Mutation_p.L519F|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000568684.1_Missense_Mutation_p.L196F|WWP2_ENST00000448661.1_Missense_Mutation_p.L635F|WWP2_ENST00000356003.2_Missense_Mutation_p.L635F NM_001270454.1|NM_007014.4 NP_001257383.1|NP_008945.2 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 2 635 HECT. entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CAAGCGGATGCTCAATAAGAG 0.547000 32 157 0 0 0.041601 0 0 TP53 7157 broad.mit.edu 37 17 7576927 7576927 + Splice_Site SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr17:7576927C>G ENST00000420246.2 - 9 1052 c.e9-1 TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 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.?(20)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(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) TTGGGCAGTGCTAGGAAAGAG 0.493000 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) 16 73 0 0 0.028581 0 0 DGCR6L 85359 broad.mit.edu 37 22 20307265 20307265 + Missense_Mutation SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr22:20307265G>C ENST00000405465.3 - 2 175 c.155C>G c.(154-156)tCg>tGg p.S52W DGCR6L_ENST00000248879.3_Silent_p.L56L Q9BY27 DGC6L_HUMAN DiGeorge syndrome critical region gene 6-like 52 nucleus endometrium(1)|kidney(1)|lung(2)|stomach(1) 5 Colorectal(54;0.0993) CGGTGCCGTCGAGAAGCGCCA 0.652000 6 22 0 0 0.038147 0 0 BACH2 60468 broad.mit.edu 37 6 90660199 90660199 + Silent SNP G G C rs142894061 by1000genomes TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr6:90660199G>C ENST00000257749.4 - 7 2333 c.1626C>G c.(1624-1626)ctC>ctG p.L542L RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_Silent_p.L542L|BACH2_ENST00000343122.3_Silent_p.L542L|RP3-512E2.2_ENST00000445838.1_RNA NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 542 nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) AGAACTCACAGAGAGGGAGGC 0.607000 26 55 0 0 0.021523 0 0 ERCC6L2 375748 broad.mit.edu 37 9 98774833 98774833 + Missense_Mutation SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr9:98774833G>C ENST00000407474.3 + 4 1457 c.944G>C c.(943-945)aGa>aCa p.R315T Q5T890 RAD26_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2 0 Helicase ATP-binding. DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding ACATATAAAAGAAAATCAGTT 0.308000 17 66 0 0 0.028581 0 0 SCLT1 132320 broad.mit.edu 37 4 129857913 129857913 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr4:129857913C>G ENST00000281142.5 - 18 2229 c.1726G>C c.(1726-1728)Gaa>Caa p.E576Q SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Intron NM_144643.2 NP_653244.2 Q96NL6 SCLT1_HUMAN sodium channel and clathrin linker 1 576 centrosome central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 29 TGCCTCAGTTCAACAATGGAA 0.363000 7 35 0 0 0.029380 0 0 ROBO1 6091 broad.mit.edu 37 3 78656171 78656171 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr3:78656171G>A ENST00000436010.2 - 27 5336 c.4339C>T c.(4339-4341)Ccg>Tcg p.P1447S ROBO1_ENST00000467549.1_Missense_Mutation_p.P1386S|ROBO1_ENST00000464233.1_Missense_Mutation_p.P1486S|ROBO1_ENST00000495273.1_Missense_Mutation_p.P1441S|ROBO1_ENST00000466906.1_5'UTR Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 1486 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) GCAGGTGGCGGCACAGGAGGT 0.423000 4 75 0 0 0.014758 0 0 BICD1 636 broad.mit.edu 37 12 32369283 32369283 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr12:32369283C>G ENST00000548411.1 + 2 497 c.316C>G c.(316-318)Ctg>Gtg p.L106V BICD1_ENST00000281474.5_Missense_Mutation_p.L106V NM_001003398.1 NP_001003398.1 Q96G01 BICD1_HUMAN bicaudal D homolog 1 (Drosophila) 106 anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton p.L106V(1) NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) GGCTTACTATCTGGGGAAGAT 0.542000 14 69 0 0 0.024245 0 0 ZNF318 24149 broad.mit.edu 37 6 43323487 43323487 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr6:43323487G>A ENST00000361428.2 - 4 1662 c.1585C>T c.(1585-1587)Ccc>Tcc p.P529S ZNF318_ENST00000318149.3_Missense_Mutation_p.P529S NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 529 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) TCAATGTCGGGAAAGCTACGT 0.488000 87 334 0 0 0.048971 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25168432 25168432 + RNA SNP T T C rs149337771 by1000genomes TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr13:25168432T>C ENST00000453498.1 + 0 1104 TTGAAACAGCTGGTGTATTAA 0.373000 3 27 0 0 0.009096 0 0 NPTX1 4884 broad.mit.edu 37 17 78444754 78444754 + Silent SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr17:78444754C>T ENST00000306773.4 - 5 1315 c.1158G>A c.(1156-1158)ctG>ctA p.L386L NM_002522.3 NP_002513.2 Q15818 NPTX1_HUMAN neuronal pentraxin I 386 Pentaxin. central nervous system development|synaptic transmission|transport transport vesicle metal ion binding kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1) 11 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487) CCCCGGGGGTCAGCTTGCGGT 0.592000 14 84 0 0 0.024245 0 0 SPAG8 26206 broad.mit.edu 37 9 35810671 35810671 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr9:35810671C>T ENST00000340291.2 - 4 1172 c.1048G>A c.(1048-1050)Gaa>Aaa p.E350K SPAG8_ENST00000484764.1_Missense_Mutation_p.E348K|SPAG8_ENST00000396638.2_Missense_Mutation_p.E350K|SPAG8_ENST00000479751.1_5'UTR NM_172312.1 NP_758516.1 Q99932 SPAG8_HUMAN sperm associated antigen 8 350 acrosomal vesicle|membrane NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) AGCATGGCTTCACGCTTCCCT 0.527000 5 48 0 0 0.029380 0 0 UTRN 7402 broad.mit.edu 37 6 144780337 144780337 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr6:144780337C>T ENST00000367545.3 + 20 2554 c.2554C>T c.(2554-2556)Cac>Tac p.H852Y NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 852 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) TCTTGGCCTTCACCCCAAAAT 0.507000 4 54 0 0 0.009096 0 0 TP53 7157 broad.mit.edu 37 17 7577099 7577099 + Missense_Mutation SNP C C G rs121912660 TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr17:7577099C>G ENST00000420246.2 - 8 971 c.839G>C c.(838-840)aGa>aCa p.R280T TP53_ENST00000455263.2_Missense_Mutation_p.R280T|TP53_ENST00000445888.2_Missense_Mutation_p.R280T|TP53_ENST00000269305.4_Missense_Mutation_p.R280T|TP53_ENST00000359597.4_Missense_Mutation_p.R280T|TP53_ENST00000413465.2_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 280 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; 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.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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) GCGCCGGTCTCTCCCAGGACA 0.542000 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) 3 28 0 0 0.004672 0 0 CSAG4 100130935 broad.mit.edu 37 X 151896589 151896589 + RNA SNP C C A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chrX:151896589C>A ENST00000361201.4 - 0 351 NR_073432.1 p.L11F(1) endometrium(2)|kidney(2)|lung(1) 5 GGTTGTTGGACAATGGGCTGG 0.557000 4 224 0.00909568 0.00948924 0.009096 1 0 NEB 4703 broad.mit.edu 37 2 152383461 152383461 + Missense_Mutation SNP C C A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr2:152383461C>A ENST00000427231.2 - 148 22118 c.21916G>T c.(21916-21918)Gcc>Tcc p.A7306S NEB_ENST00000172853.10_Missense_Mutation_p.A5605S|NEB_ENST00000604864.1_Missense_Mutation_p.A7306S|NEB_ENST00000603639.1_Missense_Mutation_p.A7306S|NEB_ENST00000397345.3_Missense_Mutation_p.A7306S|NEB_ENST00000409198.1_Missense_Mutation_p.A5605S NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 5605 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TTCCTGAGGGCGAGCACCGTG 0.463000 4 20 4.096e-09 4.55811e-09 0.021553 1 0 RSF1 51773 broad.mit.edu 37 11 77412091 77412091 + Missense_Mutation SNP C C A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr11:77412091C>A ENST00000308488.6 - 6 2485 c.2183G>T c.(2182-2184)aGg>aTg p.R728M RSF1_ENST00000480887.1_Missense_Mutation_p.R476M|RSF1_ENST00000360355.2_Missense_Mutation_p.R697M Q96T23 RSF1_HUMAN remodeling and spacing factor 1 728 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) CTCTTTCTGCCTTTCAGAGGT 0.398000 27 157 7.07758e-08 7.75674e-08 0.024334 1 0 LILRB3 11025 broad.mit.edu 37 19 54724540 54724540 + Silent SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr19:54724540G>A ENST00000391750.1 - 7 1252 c.1116C>T c.(1114-1116)taC>taT p.Y372Y LILRB3_ENST00000469273.1_5'UTR|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000270464.5_Silent_p.Y372Y|LILRB3_ENST00000245620.9_Silent_p.Y372Y|LILRB3_ENST00000424807.1_Silent_p.Y372Y|LILRA6_ENST00000440558.2_Silent_p.Y372Y|LILRB3_ENST00000346401.6_Silent_p.Y372Y|LILRA6_ENST00000419410.2_Intron|LILRB3_ENST00000407860.2_Silent_p.Y372Y O75022 LIRB3_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 372 Ig-like C2-type 4. cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity p.Y372Y(1) endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 34 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TATGAGCTCCGTACATTGATC 0.567000 20 49 0 0 0.027356 0 0 ACSS1 84532 broad.mit.edu 37 20 24989982 24989982 + Nonsense_Mutation SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr20:24989982G>C ENST00000537502.1 - 11 3096 c.1565C>G c.(1564-1566)tCa>tGa p.S522* ACSS1_ENST00000432802.2_Intron|ACSS1_ENST00000323482.4_Nonsense_Mutation_p.S605*|ACSS1_ENST00000542618.1_Nonsense_Mutation_p.S484*|ACSS1_ENST00000484396.1_5'UTR Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 605 acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix acetate-CoA ligase activity|AMP binding|ATP binding|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CACCACATCTGAGTCACCCGC 0.502000 36 190 0 0 0.030466 0 0 TTN 7273 broad.mit.edu 37 2 179611715 179611715 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr2:179611715C>T ENST00000360870.5 - 46 15634 c.15412G>A c.(15412-15414)Gaa>Aaa p.E5138K TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 1039 Ig-like 32. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTTCCCTTTCTATTTTTGAT 0.443000 36 141 0 0 0.025465 0 0 FAM3A 60343 broad.mit.edu 37 X 153735817 153735817 + Silent SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chrX:153735817G>C ENST00000434658.2 - 6 808 c.339C>G c.(337-339)gtC>gtG p.V113V FAM3A_ENST00000447601.2_Silent_p.V130V|FAM3A_ENST00000369643.1_Silent_p.V130V|FAM3A_ENST00000369641.3_Silent_p.V137V|FAM3A_ENST00000359889.5_Silent_p.V130V|FAM3A_ENST00000393572.1_Silent_p.V92V NM_001171134.1 NP_001164605.1 P98173 FAM3A_HUMAN family with sequence similarity 3, member A 130 extracellular region kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ACAGGTCGTTGACATCTGGGG 0.582000 7 31 0 0 0.029380 0 0 RB1CC1 9821 broad.mit.edu 37 8 53570373 53570373 + Silent SNP T T A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr8:53570373T>A ENST00000025008.5 - 15 2539 c.2016A>T c.(2014-2016)ccA>ccT p.P672P RB1CC1_ENST00000539297.1_Silent_p.P672P|RB1CC1_ENST00000435644.2_Silent_p.P672P|RB1CC1_ENST00000521611.1_Intron NM_014781.4 NP_055596.3 Q8TDY2 RBCC1_HUMAN RB1-inducible coiled-coil 1 672 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 60 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) CAGTCAGTGGTGGAGGAGTTC 0.443000 10 70 0 0 0.010729 0 0 TSSC2 650368 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 3 60 0 0 0.004672 0 0 ICAM2 3384 broad.mit.edu 37 17 62081150 62081150 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr17:62081150G>A ENST00000412356.1 - 5 857 c.503C>T c.(502-504)cCg>cTg p.P168L ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000579788.1_Missense_Mutation_p.P168L|ICAM2_ENST00000579687.1_Missense_Mutation_p.P168L|ICAM2_ENST00000578892.1_Missense_Mutation_p.P144L|ICAM2_ENST00000578379.1_Missense_Mutation_p.P67L|ICAM2_ENST00000449662.2_Missense_Mutation_p.P168L|ICAM2_ENST00000418105.1_Missense_Mutation_p.P168L|C17orf72_ENST00000412177.1_3'UTR NM_001099786.1 NP_001093256.1 P13598 ICAM2_HUMAN intercellular adhesion molecule 2 168 Ig-like C2-type 2. cell-cell adhesion|regulation of immune response integral to plasma membrane integrin binding large_intestine(1)|lung(2)|ovary(1)|skin(2) 6 GGCCTCCTGCGGAGCAGGGGC 0.627000 16 74 0 0 0.055883 0 0 NCOR1 9611 broad.mit.edu 37 17 16089965 16089965 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr17:16089965C>T ENST00000268712.3 - 3 402 c.145G>A c.(145-147)Gaa>Aaa p.E49K NCOR1_ENST00000395851.1_Missense_Mutation_p.E49K|NCOR1_ENST00000395848.1_Intron NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 49 Interaction with ZBTB33 and HEXIM1. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) TGACTCACTTCAAGATGAGAG 0.408000 6 80 0 0 0.047766 0 0 GPR39 2863 broad.mit.edu 37 2 133174980 133174980 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr2:133174980C>T ENST00000329321.3 + 1 834 c.365C>T c.(364-366)aCg>aTg p.T122M NM_001508.2 NP_001499.1 O43194 GPR39_HUMAN G protein-coupled receptor 39 122 integral to plasma membrane G-protein coupled receptor activity|metal ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 AGCTACGCTACGCTGCTGCAC 0.572000 17 61 0 0 0.038395 0 0 TG 7038 broad.mit.edu 37 8 133885398 133885398 + Missense_Mutation SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr8:133885398G>C ENST00000220616.4 + 5 610 c.570G>C c.(568-570)atG>atC p.M190I TG_ENST00000377869.1_Missense_Mutation_p.M190I NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 190 Thyroglobulin type-1 3. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GAGAGTTTATGCCTGTCCAGT 0.502000 8 55 0 0 0.047766 0 0 SYTL2 54843 broad.mit.edu 37 11 85435915 85435915 + Missense_Mutation SNP C C T rs116798528 by1000genomes TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr11:85435915C>T ENST00000359152.5 - 1 3156 c.3157G>A c.(3157-3159)Gaa>Aaa p.E1053K SYTL2_ENST00000525423.1_Missense_Mutation_p.E529K|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.E529K|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000524452.1_Intron NM_206928.2 NP_996811.1 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 449 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) GCACTGAATTCGAGGAACTCT 0.403000 16 129 0 0 0.033300 0 0 EYA1 2138 broad.mit.edu 37 8 72267089 72267089 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr8:72267089C>T ENST00000340726.3 - 3 691 c.52G>A c.(52-54)Gaa>Aaa p.E18K EYA1_ENST00000303824.7_Missense_Mutation_p.E18K|EYA1_ENST00000388743.2_Missense_Mutation_p.E18K|EYA1_ENST00000388740.3_Intron|EYA1_ENST00000419131.1_Missense_Mutation_p.E18K|EYA1_ENST00000388741.2_Intron|EYA1_ENST00000388742.4_Missense_Mutation_p.E18K NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 18 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) CTGGGGGATTCACTACTACCA 0.453000 29 188 0 0 0.034045 0 0 KIAA1919 91749 broad.mit.edu 37 6 111587118 111587118 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr6:111587118G>A ENST00000368847.4 + 4 706 c.353G>A c.(352-354)gGa>gAa p.G118E NM_153369.2 NP_699200.2 Q5TF39 NAGT1_HUMAN KIAA1919 118 carbohydrate transport|sodium ion transport apical plasma membrane|integral to membrane symporter activity large_intestine(3)|lung(2)|ovary(4)|skin(3) 12 all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884) GGGGACAAAGGAGCCCCACAT 0.433000 27 70 0 0 0.015359 0 0 CREBRF 153222 broad.mit.edu 37 5 172550143 172550143 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr5:172550143C>T ENST00000540014.1 + 9 2067 c.1748C>T c.(1747-1749)cCa>cTa p.P583L CREBRF_ENST00000296953.2_Missense_Mutation_p.P581L Q8IUR6 CE041_HUMAN CREB3 regulatory factor 581 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity GTACAGAATCCAAGAGATGAG 0.363000 14 103 0 0 0.016723 0 0 CAPN2 824 broad.mit.edu 37 1 223957578 223957578 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr1:223957578C>G ENST00000295006.5 + 17 2100 c.1791C>G c.(1789-1791)ttC>ttG p.F597L CAPN2_ENST00000474026.1_3'UTR|CAPN2_ENST00000433674.2_Missense_Mutation_p.F519L NM_001748.4 NP_001739.2 P17655 CAN2_HUMAN calpain 2, (m/II) large subunit 597 Domain IV.|EF-hand 1. proteolysis cytoplasm|plasma membrane breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3) 29 GBM - Glioblastoma multiforme(131;0.109) TGAAGGAGTTCTACATTCTCT 0.478000 2 5 0 0 0.004672 0 0 AMER1 139285 broad.mit.edu 37 X 63412536 63412536 + Missense_Mutation SNP C C A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chrX:63412536C>A ENST00000330258.3 - 2 903 c.631G>T c.(631-633)Gcc>Tcc p.A211S AMER1_ENST00000374869.3_Missense_Mutation_p.A211S|AMER1_ENST00000403336.1_Missense_Mutation_p.A211S NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) ACCTGAGGGGCTGAGCTCACG 0.597000 13 89 1.49906e-05 1.59459e-05 0.020292 1 0 CWC27 10283 broad.mit.edu 37 5 64267529 64267529 + Splice_Site SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr5:64267529G>C ENST00000381070.3 + 12 1259 c.e12-1 CWC27_ENST00000545000.1_Splice_Site NM_005869.2 NP_005860.2 Q6UX04 CWC27_HUMAN CWC27 spliceosome-associated protein homolog (S. cerevisiae) protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1) 21 CTATTCTTTAGAGGAAGAAGC 0.418000 7 92 0 0 0.038147 0 0 C1GALT1 56913 broad.mit.edu 37 7 7278194 7278194 + Missense_Mutation SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr7:7278194G>C ENST00000436587.2 + 3 752 c.529G>C c.(529-531)Gac>Cac p.D177H C1GALT1_ENST00000223122.2_Missense_Mutation_p.D177H|C1GALT1_ENST00000402468.3_Missense_Mutation_p.D177H NM_020156.3 NP_064541.1 Q9NS00 C1GLT_HUMAN core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 177 angiogenesis|cell differentiation|kidney development integral to membrane glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1) 7 UCEC - Uterine corpus endometrioid carcinoma (126;0.177) TGTCATACTAGACAATTTGAG 0.368000 8 69 0 0 0.047766 0 0 PRUNE2 158471 broad.mit.edu 37 9 79318700 79318700 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr9:79318700G>A ENST00000428286.1 - 9 7952 c.6752C>T c.(6751-6753)tCt>tTt p.S2251F PRUNE2_ENST00000376718.3_Missense_Mutation_p.S2610F Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2610 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TTTCTCTGCAGAGAGACCTTT 0.453000 13 90 0 0 0.013537 0 0 NELFA 7469 broad.mit.edu 37 4 1985396 1985396 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr4:1985396C>G ENST00000382882.3 - 10 2479 c.1362G>C c.(1360-1362)gaG>gaC p.E454D NELFA_ENST00000542778.1_Missense_Mutation_p.E308D|NELFA_ENST00000411638.1_Missense_Mutation_p.E443D NM_005663.4 NP_005654.3 negative elongation factor complex member A TCTTGAACATCTCCTGGGCAG 0.657000 12 61 0 0 0.016723 0 0 ZNF221 7638 broad.mit.edu 37 19 44470712 44470712 + Missense_Mutation SNP T T A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr19:44470712T>A ENST00000251269.5 + 6 1386 c.1058T>A c.(1057-1059)cTt>cAt p.L353H ZNF221_ENST00000587682.1_Missense_Mutation_p.L353H|ZNF221_ENST00000592350.1_Missense_Mutation_p.L353H NM_013359.2 NP_037491.2 Q9UK13 ZN221_HUMAN zinc finger protein 221 353 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 Prostate(69;0.0352) AGATCAGCACTTAATAGTCAT 0.403000 18 121 0 0 0.043863 0 0 ZNF354A 6940 broad.mit.edu 37 5 178152447 178152447 + Silent SNP C C T rs146853988 by1000genomes TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr5:178152447C>T ENST00000335815.2 - 4 383 c.186G>A c.(184-186)gtG>gtA p.V62V NM_005649.2 NP_005640.2 O60765 Z354A_HUMAN zinc finger protein 354A 62 KRAB. regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2) 19 all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536) all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.185) ACAGGGAGATCACTTTTGGTT 0.468000 15 113 0 0 0.043863 0 0 TFAP2D 83741 broad.mit.edu 37 6 50740385 50740385 + Silent SNP G G A rs149503577 TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr6:50740385G>A ENST00000008391.3 + 8 1395 c.1167G>A c.(1165-1167)ccG>ccA p.P389P NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 389 H-S-H (helix-span-helix), dimerization. DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) TTGGGACTCCGGCAATATGTG 0.428000 12 69 0 0 0.013537 0 0 RIMKLB 57494 broad.mit.edu 37 12 8926332 8926332 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr12:8926332C>G ENST00000357529.3 + 7 2375 c.1113C>G c.(1111-1113)ttC>ttG p.F371L RIMKLB_ENST00000299673.5_Intron|RIMKLB_ENST00000535829.1_Missense_Mutation_p.F371L|RIMKLB_ENST00000538135.1_Missense_Mutation_p.F371L NM_020734.2 NP_065785.2 Q9ULI2 RIMKB_HUMAN ribosomal modification protein rimK-like family member B 371 protein modification process cytoplasm acid-amino acid ligase activity|ATP binding|metal ion binding central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 GGGGCCTGTTCAACATGAACC 0.483000 18 128 0 0 0.049695 0 0 KRTAP5-7 440050 broad.mit.edu 37 11 71238615 71238615 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr11:71238615G>A ENST00000398536.4 + 1 303 c.269G>A c.(268-270)tGt>tAt p.C90Y NM_001012503.1 NP_001012521.1 Q6L8G8 KRA57_HUMAN keratin associated protein 5-7 90 7 X 4 AA repeats of C-C-X-P. keratin filament breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1) 12 TGTGGTTCTTGTGgctgctcc 0.647000 5 236 0 0 0.029380 0 0 UBR1 197131 broad.mit.edu 37 15 43351984 43351984 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr15:43351984C>G ENST00000290650.4 - 8 979 c.901G>C c.(901-903)Gaa>Caa p.E301Q UBR1_ENST00000382177.2_Missense_Mutation_p.E301Q NM_174916.2 NP_777576.1 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1 301 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 58 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) TGTAATACTTCTACATGAAGT 0.353000 8 49 0 0 0.038147 0 0 CCDC135 84229 broad.mit.edu 37 16 57741450 57741450 + Missense_Mutation SNP G G A rs116219187 by1000genomes TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr16:57741450G>A ENST00000360716.3 + 8 1158 c.937G>A c.(937-939)Gag>Aag p.E313K CCDC135_ENST00000336825.8_Missense_Mutation_p.E248K|CCDC135_ENST00000394337.4_Missense_Mutation_p.E313K Q8IY82 CC135_HUMAN coiled-coil domain containing 135 313 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 GGGGAAGCGCGAGGTGCCTGA 0.587000 10 52 0 0 0.010729 0 0 CHST8 64377 broad.mit.edu 37 19 34263009 34263009 + Silent SNP C C A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr19:34263009C>A ENST00000262622.3 + 4 1074 c.316C>A c.(316-318)Cgg>Agg p.R106R CHST8_ENST00000438847.2_Silent_p.R106R|CHST8_ENST00000434302.1_Silent_p.R106R NM_022467.3 NP_071912.2 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 106 carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5) 27 Esophageal squamous(110;0.162) AACCCGTCTGCGGCTCCGCCA 0.697000 6 30 0.0293803 0.0305049 0.029380 1 0 CLEC3B 7123 broad.mit.edu 37 3 45077267 45077267 + Missense_Mutation SNP T T C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr3:45077267T>C ENST00000296130.4 + 3 640 c.460T>C c.(460-462)Tac>Cac p.Y154H CLEC3B_ENST00000428034.1_Missense_Mutation_p.Y112H|CLEC3B_ENST00000490386.1_3'UTR NM_003278.2 NP_003269.2 P05452 TETN_HUMAN C-type lectin domain family 3, member B 154 C-type lectin. skeletal system development extracellular space protein binding|sugar binding endometrium(1)|lung(3) 4 BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCGCATCGCCTACAAGAACTG 0.667000 3 73 0 0 0.004672 0 0 PCDHA10 56139 broad.mit.edu 37 5 140237074 140237074 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr5:140237074G>A ENST00000307360.5 + 1 1441 c.1441G>A c.(1441-1443)Gcg>Acg p.A481T PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A481T NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 p.A481S(2) NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCGTGGGACGCGGACGCGCA 0.662000 24 142 0 0 0.024334 0 0 SOCS5 9655 broad.mit.edu 37 2 46986940 46986940 + Missense_Mutation SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr2:46986940G>C ENST00000306503.5 + 2 1443 c.1271G>C c.(1270-1272)aGa>aCa p.R424T SOCS5_ENST00000394861.2_Missense_Mutation_p.R424T NM_014011.4 NP_054730.1 O75159 SOCS5_HUMAN suppressor of cytokine signaling 5 424 SH2. cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2) 22 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) CGCTACAACAGATCCCTGCAT 0.517000 16 94 0 0 0.038395 0 0 ASB8 140461 broad.mit.edu 37 12 48545077 48545077 + Silent SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr12:48545077C>G ENST00000317697.3 - 3 310 c.141G>C c.(139-141)gtG>gtC p.V47V ASB8_ENST00000535055.1_Silent_p.V47V|ASB8_ENST00000540782.1_Silent_p.V47V|ASB8_ENST00000539528.1_Silent_p.V47V|ASB8_ENST00000537754.1_Intron|ASB8_ENST00000536071.1_Silent_p.V47V|ASB8_ENST00000535988.1_Silent_p.V47V|ASB8_ENST00000536953.1_Silent_p.V47V|ASB8_ENST00000536549.1_Silent_p.V47V NM_024095.3 NP_077000.1 Q9H765 ASB8_HUMAN ankyrin repeat and SOCS box containing 8 47 intracellular signal transduction cytoplasm|nucleus breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1) 11 GAGTGCAGTTCACATCTGCTC 0.522000 12 46 0 0 0.010729 0 0 SYNCRIP 10492 broad.mit.edu 37 6 86346765 86346765 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr6:86346765C>G ENST00000355238.6 - 6 792 c.586G>C c.(586-588)Gat>Cat p.D196H SYNCRIP_ENST00000369622.3_Missense_Mutation_p.D196H NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1 NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1 O60506 HNRPQ_HUMAN synaptotagmin binding, cytoplasmic RNA interacting protein 196 RRM 1. CRD-mediated mRNA stabilization|interspecies interaction between organisms catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm nucleotide binding|protein binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297) BRCA - Breast invasive adenocarcinoma(108;0.0389) GTGAGTGGATCCATCATTAGA 0.403000 9 69 0 0 0.013537 0 0 TARBP1 6894 broad.mit.edu 37 1 234529206 234529206 + Missense_Mutation SNP C C A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr1:234529206C>A ENST00000040877.1 - 28 4461 c.4462G>T c.(4462-4464)Ggg>Tgg p.G1488W TARBP1_ENST00000483404.1_5'UTR NM_005646.3 NP_005637.3 Q13395 TARB1_HUMAN TAR (HIV-1) RNA binding protein 1 1488 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 55 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) ACTGAAGCCCCAAATACCTCA 0.498000 14 74 4.36969e-10 4.93866e-10 0.016723 1 0 ACPP 55 broad.mit.edu 37 3 132047150 132047150 + Missense_Mutation SNP C C A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr3:132047150C>A ENST00000336375.5 + 2 250 c.160C>A c.(160-162)Ccc>Acc p.P54T ACPP_ENST00000475741.1_Missense_Mutation_p.P54T|ACPP_ENST00000351273.7_Missense_Mutation_p.P54T|ACPP_ENST00000489084.1_3'UTR NM_001099.4 NP_001090.2 P15309 PPAP_HUMAN acid phosphatase, prostate 54 extracellular region|lysosomal membrane 5'-nucleotidase activity|acid phosphatase activity NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 27 TGACACCTTTCCCACTGACCC 0.473000 7 80 1.26484e-09 1.4148e-09 0.038147 1 0 CYP21A1P 1590 broad.mit.edu 37 6 31975160 31975160 + RNA SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr6:31975160G>A ENST00000342991.6 + 0 1283 NR_040090.1 Q5ST44 Q5ST44_HUMAN electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen CTTGCACATGGCTGCAGTGGA 0.607000 35 187 0 0 0.021022 0 0 MUC17 140453 broad.mit.edu 37 7 100676143 100676143 + Silent SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr7:100676143G>A ENST00000306151.4 + 3 1510 c.1446G>A c.(1444-1446)caG>caA p.Q482Q NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 482 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) CCAAAACTCAGGTGACCACTT 0.473000 60 407 0 0 0.048971 0 0 DCAF16 54876 broad.mit.edu 37 4 17805653 17805653 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr4:17805653C>T ENST00000382247.1 - 3 1172 c.112G>A c.(112-114)Gaa>Aaa p.E38K DCAF16_ENST00000536863.1_Missense_Mutation_p.E38K NM_017741.3 NP_060211.3 Q9NXF7 DCA16_HUMAN DDB1 and CUL4 associated factor 16 38 CUL4 RING ubiquitin ligase complex cervix(1)|endometrium(1)|lung(2)|ovary(1) 5 GAGTCCTCTTCTTCAGAGGAA 0.423000 13 103 0 0 0.020292 0 0 ROBO2 6092 broad.mit.edu 37 3 77666886 77666886 + Missense_Mutation SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr3:77666886G>C ENST00000461745.1 + 22 4416 c.3516G>C c.(3514-3516)ttG>ttC p.L1172F ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000332191.8_Missense_Mutation_p.L1172F|ROBO2_ENST00000487694.3_Missense_Mutation_p.L1188F NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 1172 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) TGGATGAGTTGACAAGAGCCT 0.433000 10 65 0 0 0.006214 0 0 NOL6 65083 broad.mit.edu 37 9 33464075 33464075 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr9:33464075C>T ENST00000379471.2 - 22 2951 c.2864G>A c.(2863-2865)cGc>cAc p.R955H NOL6_ENST00000455041.2_Missense_Mutation_p.R903H|NOL6_ENST00000464829.1_Intron Q9H6R4 NOL6_HUMAN nucleolar protein 6 (RNA-associated) 955 rRNA processing condensed nuclear chromosome|nucleolus RNA binding p.R955H(1) endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) AGAGTTTTTGCGGTCTTGGGG 0.567000 5 192 0 0 0.029380 0 0 IDO1 3620 broad.mit.edu 37 8 39781060 39781060 + Missense_Mutation SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr8:39781060G>C ENST00000518237.1 + 7 1249 c.610G>C c.(610-612)Gct>Cct p.A204P RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.A204P NM_002164.5 NP_002155.1 P14902 I23O1_HUMAN indoleamine 2,3-dioxygenase 1 204 female pregnancy|tryptophan catabolic process cytosol electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2) 12 L-Tryptophan(DB00150) GTTGGAAATAGCTTCTTGCTT 0.423000 6 45 0 0 0.047766 0 0 SLC13A2 9058 broad.mit.edu 37 17 26817427 26817427 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr17:26817427G>A ENST00000444914.3 + 3 754 c.334G>A c.(334-336)Gac>Aac p.D112N SLC13A2_ENST00000545060.1_Intron|SLC13A2_ENST00000537681.1_Intron|SLC13A2_ENST00000314669.5_Intron NM_001145975.1 NP_001139447.1 Q13183 S13A2_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 66 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) CACCGTGGGAGACTCCAGGGT 0.587000 23 128 0 0 0.018920 0 0 DPYSL4 10570 broad.mit.edu 37 10 134008424 134008424 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr10:134008424C>T ENST00000338492.4 + 4 553 c.389C>T c.(388-390)gCg>gTg p.A130V DPYSL4_ENST00000493882.1_3'UTR|DPYSL4_ENST00000368627.1_Missense_Mutation_p.A53V|DPYSL4_ENST00000368629.1_Missense_Mutation_p.A53V NM_006426.2 NP_006417.2 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 130 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) GCGGACAGCGCGGCCTGCTGC 0.662000 13 81 0 0 0.020292 0 0 ABCB1 5243 broad.mit.edu 37 7 87148696 87148696 + Missense_Mutation SNP C C T rs144369247 TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr7:87148696C>T ENST00000265724.3 - 24 3290 c.2873G>A c.(2872-2874)cGg>cAg p.R958Q ABCB1_ENST00000543898.1_Missense_Mutation_p.R894Q|ABCB1_ENST00000488737.2_5'UTR NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 958 ABC transmembrane type-1 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) GGCTCCAAACCGGAAACATCC 0.383000 10 60 0 0 0.010729 0 0 ZFHX3 463 broad.mit.edu 37 16 72830136 72830136 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr16:72830136G>A ENST00000268489.5 - 9 7117 c.6445C>T c.(6445-6447)Cgc>Tgc p.R2149C ZFHX3_ENST00000397992.5_Missense_Mutation_p.R1235C NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 2149 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) ATCCTGGTGCGAGGCCTCTTG 0.547000 12 64 0 0 0.016723 0 0 TSIX 9383 broad.mit.edu 37 X 73046762 73046762 + RNA SNP A A T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chrX:73046762A>T ENST00000604411.1 + 0 34723 XIST_ENST00000429829.1_lincRNA NR_003255.2 AAGCCTTGAGACTTCCATCCA 0.493000 13 104 0 0 0.020292 0 0 RYR1 6261 broad.mit.edu 37 19 38959733 38959733 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr19:38959733C>G ENST00000355481.4 + 26 3640 c.3509C>G c.(3508-3510)tCt>tGt p.S1170C RYR1_ENST00000360985.3_Missense_Mutation_p.S1170C|RYR1_ENST00000359596.3_Missense_Mutation_p.S1170C NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1170 6 X approximate repeats.|B30.2/SPRY 2. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GTCCTCATGTCTGACTCAGGC 0.567000 10 100 0 0 0.008291 0 0 DAAM1 23002 broad.mit.edu 37 14 59820601 59820601 + Missense_Mutation SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr14:59820601C>T ENST00000395125.1 + 19 2328 c.2305C>T c.(2305-2307)Cac>Tac p.H769Y DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000360909.3_Missense_Mutation_p.H759Y|DAAM1_ENST00000351081.1_Missense_Mutation_p.H769Y NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 769 FH2. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) CAGAATTAATCACTATCAGCA 0.378000 3 25 0 0 0.009096 0 0 DMD 1756 broad.mit.edu 37 X 31986458 31986458 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chrX:31986458C>G ENST00000357033.4 - 45 6818 c.6612G>C c.(6610-6612)aaG>aaC p.K2204N DMD_ENST00000378677.2_Missense_Mutation_p.K2200N|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378707.3_5'UTR NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 2204 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CGCCCTACCTCTTTTTTCTGT 0.398000 17 180 0 0 0.043863 0 0 E2F5 1875 broad.mit.edu 37 8 86114424 86114424 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr8:86114424G>A ENST00000418930.2 + 2 473 c.277G>A c.(277-279)Gat>Aat p.D93N E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000256117.5_Missense_Mutation_p.D93N|E2F5_ENST00000416274.2_Missense_Mutation_p.D93N|E2F5_ENST00000517476.1_5'UTR|E2F5_ENST00000521429.1_5'UTR Q15329 E2F5_HUMAN E2F transcription factor 5, p130-binding 93 Leucine-zipper. G1 phase of mitotic cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1) 8 GAGAATTTATGATATCACCAA 0.383000 6 35 0 0 0.021553 0 0 TROAP 10024 broad.mit.edu 37 12 49724994 49724994 + Nonsense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr12:49724994C>G ENST00000551245.1 + 13 2477 c.2366C>G c.(2365-2367)tCa>tGa p.S789* TROAP_ENST00000547923.1_Intron|TROAP_ENST00000257909.3_Intron Q12815 TROAP_HUMAN trophinin associated protein 0 cell adhesion cytoplasm breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 32 CCATGCCCCTCAGGCCTCAGC 0.577000 4 51 0 0 0.009096 0 0 OBSCN 84033 broad.mit.edu 37 1 228433261 228433261 + Nonsense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr1:228433261C>G ENST00000570156.2 + 13 3979 c.3905C>G c.(3904-3906)tCa>tGa p.S1302* OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Nonsense_Mutation_p.S1210*|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.S1210*|OBSCN_ENST00000366707.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 281 Ig-like 13.|Poly-Ser. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGCTCCAGCTCAAAAGTACGC 0.627000 16 102 0 0 0.038395 0 0 USP28 57646 broad.mit.edu 37 11 113670017 113670017 + Missense_Mutation SNP C C A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr11:113670017C>A ENST00000003302.4 - 25 3247 c.3179G>T c.(3178-3180)cGa>cTa p.R1060L USP28_ENST00000545540.1_Missense_Mutation_p.R903L|USP28_ENST00000544967.1_Missense_Mutation_p.R736L|USP28_ENST00000260188.5_Missense_Mutation_p.R1028L NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 1060 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) AGCTGCAAATCGGCTACATAG 0.483000 27 137 7.38237e-10 8.30038e-10 0.030593 1 0 MMP14 4323 broad.mit.edu 37 14 23313957 23313957 + Silent SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr14:23313957C>T ENST00000311852.6 + 8 1530 c.1269C>T c.(1267-1269)ccC>ccT p.P423P MMP14_ENST00000548162.1_3'UTR NM_004995.2 NP_004986.1 P50281 MMP14_HUMAN matrix metallopeptidase 14 (membrane-inserted) 423 Hemopexin-like 3. extracellular matrix|integral to plasma membrane|melanosome calcium ion binding|metalloendopeptidase activity|zinc ion binding p.W421_G425>*(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 20 all_cancers(95;9.47e-05) GBM - Glioblastoma multiforme(265;0.00551) TCTGGATGCCCAATGGAAAGA 0.547000 18 137 0 0 0.012319 0 0 RPS6KL1 83694 broad.mit.edu 37 14 75376489 75376489 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr14:75376489G>A ENST00000555647.1 - 8 1314 c.1027C>T c.(1027-1029)Cgg>Tgg p.R343W RPS6KL1_ENST00000358328.4_Missense_Mutation_p.R343W|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.R343W|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.R312W Q9Y6S9 RPKL1_HUMAN ribosomal protein S6 kinase-like 1 343 Protein kinase. ribosome ATP binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(234;0.00658) GTGAGCCCCCGAGGGGGCCCA 0.697000 7 36 0 0 0.029380 0 0 PLOD1 5351 broad.mit.edu 37 1 12012751 12012751 + Missense_Mutation SNP C C G TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr1:12012751C>G ENST00000196061.4 + 5 565 c.538C>G c.(538-540)Cag>Gag p.Q180E PLOD1_ENST00000485046.1_3'UTR|PLOD1_ENST00000376369.3_Missense_Mutation_p.Q227E NM_000302.3 NP_000293.2 Q02809 PLOD1_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 180 epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126) CGACAGCGATCAGCTGTTTTA 0.617000 9 69 0 0 0.016723 0 0 RGS7 6000 broad.mit.edu 37 1 241261998 241261998 + Missense_Mutation SNP C C A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr1:241261998C>A ENST00000366565.1 - 3 524 c.143G>T c.(142-144)aGc>aTc p.S48I RGS7_ENST00000366563.1_Missense_Mutation_p.S48I|RGS7_ENST00000366562.4_Missense_Mutation_p.S48I|RGS7_ENST00000366564.1_Missense_Mutation_p.S48I|RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000348120.2_Missense_Mutation_p.S48I|RGS7_ENST00000331110.7_Missense_Mutation_p.S22I|RGS7_ENST00000407727.1_Missense_Mutation_p.S48I|RGS7_ENST00000401882.1_Missense_Mutation_p.S48I NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 48 DEP. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) GGAAAGAAAGCTTTTGACCGT 0.363000 10 51 1.08611e-07 1.18435e-07 0.010729 1 0 FAM179A 165186 broad.mit.edu 37 2 29240094 29240094 + Silent SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr2:29240094G>A ENST00000379558.4 + 9 1470 c.1119G>A c.(1117-1119)cgG>cgA p.R373R FAM179A_ENST00000465300.1_Intron|FAM179A_ENST00000403861.2_Silent_p.R373R NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 373 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 AGCTGCTTCGGAGGCTGGAGG 0.577000 14 76 0 0 0.020292 0 0 DCUN1D3 123879 broad.mit.edu 37 16 20871316 20871316 + Silent SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr16:20871316G>C ENST00000324344.3 - 3 1092 c.807C>G c.(805-807)ctC>ctG p.L269L DCUN1D3_ENST00000563934.1_Silent_p.L269L|ERI2_ENST00000564349.1_Intron NM_173475.2 NP_775746.1 Q8IWE4 DCNL3_HUMAN DCN1, defective in cullin neddylation 1, domain containing 3 269 DCUN1. negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C perinuclear region of cytoplasm NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2) 14 GBM - Glioblastoma multiforme(48;0.249) AGGTGTCAAAGAGACTTGGCC 0.552000 7 39 0 0 0.029380 0 0 DNAH11 8701 broad.mit.edu 37 7 21939660 21939660 + Missense_Mutation SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr7:21939660G>A ENST00000328843.6 + 82 13277 c.13246G>A c.(13246-13248)Gat>Aat p.D4416N DNAH11_ENST00000409508.3_Missense_Mutation_p.D4409N Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 4416 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 CTTGACTGCTGATGTTACCAA 0.448000 Kartagener syndrome 13 48 0 0 0.020292 0 0 CHI3L2 1117 broad.mit.edu 37 1 111778658 111778658 + Silent SNP C C T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr1:111778658C>T ENST00000445067.2 + 9 1389 c.618C>T c.(616-618)ttC>ttT p.F206F CHI3L2_ENST00000524472.1_Silent_p.F127F|CHI3L2_ENST00000466741.1_Silent_p.F127F|CHI3L2_ENST00000369748.4_Silent_p.F206F|CHI3L2_ENST00000369744.2_Silent_p.F196F Q15782 CH3L2_HUMAN chitinase 3-like 2 206 chitin catabolic process extracellular space cation binding|chitinase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1) 19 all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359) Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141) ATCTGGATTTCATCAACCTCC 0.473000 49 269 0 0 0.048971 0 0 SH3TC2 79628 broad.mit.edu 37 5 148427536 148427536 + Silent SNP G G A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr5:148427536G>A ENST00000515425.1 - 3 269 c.168C>T c.(166-168)ttC>ttT p.F56F SH3TC2_ENST00000512049.1_Silent_p.F56F|SH3TC2_ENST00000394358.2_5'UTR NM_024577.3 NP_078853.2 Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 56 binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTTTACACAGAAGGAGAGTG 0.502000 20 171 0 0 0.016522 0 0 GRIP2 80852 broad.mit.edu 37 3 14555758 14555759 + RNA INS - - AGTT rs10656368 by1000genomes TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr3:14555758_14555759insAGTT ENST00000273083.3 - 0 1558 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 CAGTTTCTCTCAGAGAGTGGCA 0.579 2 4 --- --- --- --- KIAA1919 91749 broad.mit.edu 37 6 111587361 111587361 + Frame_Shift_Del DEL T T - TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr6:111587361delT ENST00000368847.4 + 4 949 c.596delT c.(595-597)atfs p.I199fs NM_153369.2 NP_699200.2 Q5TF39 NAGT1_HUMAN KIAA1919 199 carbohydrate transport|sodium ion transport apical plasma membrane|integral to membrane symporter activity large_intestine(3)|lung(2)|ovary(4)|skin(3) 12 all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884) GTTTCTGTCATTTTTTTTTGT 0.368 8 71 --- --- --- --- HAS2 3037 broad.mit.edu 37 8 122626357 122626358 + Frame_Shift_Ins INS - - AA TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr8:122626357_122626358insAA ENST00000303924.4 - 4 2187_2188 c.1650_1651insTT c.(1648-1653)ctatgtfs p.C551fs NM_005328.2 NP_005319.1 Q92819 HAS2_HUMAN hyaluronan synthase 2 551 integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1) 38 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) GATCATACATCAAGCACCATGT 0.446 30 98 --- --- --- --- CASP5 838 broad.mit.edu 37 11 104879687 104879687 + Frame_Shift_Del DEL T T - TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr11:104879687delT ENST00000393141.2 - 2 98 c.67delA c.(67-69)ggfs p.R24fs CASP5_ENST00000531367.1_Intron|CASP5_ENST00000393139.2_5'UTR|CASP5_ENST00000526056.1_Frame_Shift_Del_p.R24fs|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000260315.3_Frame_Shift_Del_p.R11fs|CASP5_ENST00000444749.2_Intron NM_001136112.1|NM_004347.3 NP_001129584.1|NP_004338.3 P51878 CASP5_HUMAN caspase 5, apoptosis-related cysteine peptidase 11 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) TTCTTACGCCTTTTTTTTTTG 0.388 7 85 --- --- --- --- C12orf42 374470 broad.mit.edu 37 12 103695960 103695960 + Frame_Shift_Del DEL G G - TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr12:103695960delG ENST00000548048.1 - 9 1304 c.808delC c.(808-810)gcfs p.R270fs C12orf42_ENST00000548883.1_Frame_Shift_Del_p.R337fs|C12orf42_ENST00000378113.2_Frame_Shift_Del_p.R337fs|C12orf42_ENST00000315192.8_Intron Q96LP6 CL042_HUMAN chromosome 12 open reading frame 42 337 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1) 22 CGGGTTGGGCGGGGGGGTGCT 0.587 8 173 --- --- --- --- LUC7L3 51747 broad.mit.edu 37 17 48827881 48827882 + Frame_Shift_Ins INS - - A TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c2d3db-dbc0-44f1-b625-17f3f819c122 9aeca350-ffd8-4c58-a7b9-0bc09da94ca1 g.chr17:48827881_48827882insA ENST00000505658.1 + 10 1347_1348 c.1158_1159insA c.(1156-1161)gaaaaafs p.EK386fs LUC7L3_ENST00000393227.2_Frame_Shift_Ins_p.EK386fs|LUC7L3_ENST00000240304.1_Frame_Shift_Ins_p.EK386fs|LUC7L3_ENST00000544170.1_Frame_Shift_Ins_p.EK310fs O95232 LC7L3_HUMAN LUC7-like 3 (S. cerevisiae) 386 Arg/Ser-rich. apoptosis|mRNA processing|response to stress|RNA splicing focal adhesion|nuclear speck DNA binding|mRNA binding|protein binding p.D386fs*2(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 12 GATCTGATGATAAAAAAAGTAG 0.356 11 145 --- --- --- ---