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 UBR4 23352 broad.mit.edu 37 1 19484449 19484449 + Missense_Mutation SNP G G A TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr1:19484449G>A uc001bbi.3 - 39 5624 c.5620C>T c.(5620-5622)Cgg>Tgg p.R1874W UBR4_uc001bbl.1_5'Flank|UBR4_uc001bbm.1_Missense_Mutation_p.R1085W NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA. 1874 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TAATTCATCCGCACATTCTCA 0.537 A3GALT2 127550 broad.mit.edu 37 1 33772995 33772995 + Missense_Mutation SNP C C T TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr1:33772995C>T ZNF362 (6675 upstream) : PHC2 (16229 downstream) CACGCTCTGGCCCGCCATGAA 0.697 C1orf173 127254 broad.mit.edu 37 1 75038513 75038513 + Missense_Mutation SNP C C G TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr1:75038513C>G uc001dgg.3 - 13 3100 c.2881G>C c.(2881-2883)Gac>Cac p.D961H NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 961 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 GATGCTGTGTCCTCCATGGGT 0.522 C1orf173 127254 broad.mit.edu 37 1 75055650 75055650 + Missense_Mutation SNP C C A TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr1:75055650C>A uc001dgg.3 - 11 2060 c.1841G>T c.(1840-1842)aGt>aTt p.S614I CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.S408I NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 614 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CCTTCTGGCACTTTCATCTGT 0.448 NGF 4803 broad.mit.edu 37 1 115828831 115828831 + Missense_Mutation SNP G G A TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr1:115828831G>A uc021osd.1 - 0 586 c.586C>T c.(586-588)Cac>Tac p.H196Y NGF_uc001efu.1_Missense_Mutation_p.H196Y NM_002506 NP_002497 P01138 NGF_HUMAN Homo sapiens nerve growth factor (beta polypeptide) (NGF), mRNA. 196 activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|Golgi lumen growth factor activity|nerve growth factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) GAGTTCCAGTGCTTTGAGTCA 0.517 SPTA1 6708 broad.mit.edu 37 1 158641934 158641934 + Missense_Mutation SNP C C T TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr1:158641934C>T uc001fst.1 - 10 1602 c.1403G>A c.(1402-1404)cGt>cAt p.R468H NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 468 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.R468H(2)|p.E467K(1)|p.R468C(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CTGACGATGACGCTCGTCCCA 0.438 FAM5C 339479 broad.mit.edu 37 1 190067205 190067205 + Silent SNP C C T TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr1:190067205C>T uc001gse.1 - 7 2476 c.2244G>A c.(2242-2244)gcG>gcA p.A748A FAM5C_uc010pot.1_Silent_p.A646A NM_199051 NP_950252 Q76B58 FAM5C_HUMAN Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA. 748 extracellular region p.Q747P(1)|p.A748V(1) NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) TGGCATTAAACGCCTGCAGAG 0.423 OBSCN 84033 broad.mit.edu 37 1 228466482 228466482 + Missense_Mutation SNP G G A TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr1:228466482G>A uc009xez.1 + 25 6996 c.6952G>A c.(6952-6954)Gcc>Acc p.A2318T OBSCN_uc001hsn.3_Missense_Mutation_p.A2318T|OBSCN_uc001hsp.1_Missense_Mutation_p.A17T|OBSCN_uc001hsq.1_5'Flank NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 2318 Ig-like 23. 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) CCGGGCCAGCGCCCAGGTGCG 0.637 OR2M4 26245 broad.mit.edu 37 1 248403138 248403138 + Missense_Mutation SNP A A T TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr1:248403138A>T uc010pzh.2 + 0 908 c.908A>T c.(907-909)aAg>aTg p.K303M NM_017504 NP_059974 Q96R27 OR2M4_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA. 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GCACTACAGAAGGTACTGAAG 0.398 VSTM4 196740 broad.mit.edu 37 10 50285318 50285318 + Missense_Mutation SNP G G A TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr10:50285318G>A uc001jhf.2 - 3 609 c.580C>T c.(580-582)Ctc>Ttc p.L194F NM_001031746 NP_001026916 Q8IW00 CJ072_HUMAN Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA. 194 integral to membrane|plasma membrane p.L193V(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2) 31 AGCATGAAGAGCAGAATGCTG 0.532 PTEN 5728 broad.mit.edu 37 10 89717704 89717704 + Frame_Shift_Del DEL C C - TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr10:89717704delC uc001kfb.3 + 6 1761 c.729delC c.(727-729)ttcfs p.F243fs PTEN_uc021pvw.1_Non-coding_Transcript NM_000314 NP_000305 P60484 PTEN_HUMAN Homo sapiens phosphatase and tensin homolog (PTEN), mRNA. 243 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.E242fs*15(10)|p.R55fs*1(5)|p.F243fs*9(2)|p.N212fs*1(2)|p.E242*(2)|p.Y27fs*1(2)|p.E242fs*1(2)|p.G165_*404del(1)|p.?(1)|p.F243S(1)|p.R234fs*9(1)|p.E242K(1)|p.G165_K342del(1)|p.F243fs*13(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) ACTTTGAGTTCCCTCAGCCGT 0.423 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) MRGPRE 116534 broad.mit.edu 37 11 3249597 3249597 + Missense_Mutation SNP C C T TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr11:3249597C>T uc021qcj.1 - 0 430 c.430G>A c.(430-432)Gcc>Acc p.A144T MRGPRE_uc001lxq.4_Missense_Mutation_p.A144T NM_001039165 NP_001034254 Q86SM8 MRGRE_HUMAN Homo sapiens MAS-related GPR, member E (MRGPRE), mRNA. 144 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) CAGGTGAGGGCGCACACACAG 0.711 OR8K3 219473 broad.mit.edu 37 11 56086025 56086025 + Missense_Mutation SNP G G A TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr11:56086025G>A uc010rjf.2 + 0 243 c.243G>A c.(241-243)atG>atA p.M81I NM_001005202 NP_001005202 Q8NH51 OR8K3_HUMAN Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA. 81 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) GACCCAAAATGTTAGTAAATT 0.353 MAP4K2 5871 broad.mit.edu 37 11 64557670 64557670 + Silent SNP G G A TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr11:64557670G>A uc001obh.3 - 28 2330 c.2238C>T c.(2236-2238)atC>atT p.I746I MAP4K2_uc001obi.3_Silent_p.I738I NM_004579 NP_004570 Q12851 M4K2_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase kinase 2 (MAP4K2), mRNA. 746 CNH. activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting basolateral plasma membrane|Golgi membrane|soluble fraction ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2) 8 CCACAGTCTCGATGGGGAAAT 0.617 FAM55D 54827 broad.mit.edu 37 11 114453106 114453106 + Missense_Mutation SNP C C A TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr11:114453106C>A uc001ppc.3 - 2 915 c.734G>T c.(733-735)aGg>aTg p.R245M FAM55D_uc001ppd.3_Intron NM_001077639 NP_001071107 Q6UWF7 FA55D_HUMAN Homo sapiens family with sequence similarity 55, member D (FAM55D), transcript variant 1, mRNA. 245 extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938) GTGTTGAGGCCTCACACAGTA 0.438 KRT4 3851 broad.mit.edu 37 12 53207484 53207484 + Missense_Mutation SNP G G T TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr12:53207484G>T uc001saz.3 - 0 581 c.581C>A c.(580-582)aCc>aAc p.T194N NM_002272 NP_002263 B4DRS2 B4DRS2_HUMAN Homo sapiens keratin 4 (KRT4), mRNA. 120 keratin filament structural molecule activity endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 GTGGAGGGGGGTGAGCAAGCT 0.587 OR6C1 390321 broad.mit.edu 37 12 55714593 55714593 + Silent SNP G G A TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr12:55714593G>A uc010spi.2 + 0 210 c.210G>A c.(208-210)tcG>tcA p.S70S NM_001005182 NP_001005182 Q96RD1 OR6C1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA. 70 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 25 TAGAAATTTCGTTCACAACCG 0.383 PAH 5053 broad.mit.edu 37 12 103246614 103246614 + Missense_Mutation SNP T T A TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr12:103246614T>A uc001tjq.1 - 6 1294 c.821A>T c.(820-822)aAg>aTg p.K274M NM_000277 NP_000268 P00439 PH4H_HUMAN Homo sapiens phenylalanine hydroxylase (PAH), mRNA. 274 K -> E. catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1) 27 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) ATACATGGGCTTGGATCCATG 0.562 EXOSC8 11340 broad.mit.edu 37 13 37580266 37580266 + Missense_Mutation SNP A A C TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr13:37580266A>C uc001uwa.3 + 6 624 c.359A>C c.(358-360)cAg>cCg p.Q120P EXOSC8_uc001uvz.2_Non-coding_Transcript NM_181503 NP_852480 Q96B26 EXOS8_HUMAN Homo sapiens exosome component 8 (EXOSC8), mRNA. 120 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus AU-rich element binding|identical protein binding biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1) 7 Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411) CAGATAATTCAGAAAGAGGAC 0.318 FANCM 57697 broad.mit.edu 37 14 45605251 45605251 + Missense_Mutation SNP G G A TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr14:45605251G>A uc001wwd.4 + 0 116 c.17G>A c.(16-18)aGa>aAa p.R6K FANCM_uc001wwc.2_Missense_Mutation_p.R6K|FANCM_uc010anf.3_Missense_Mutation_p.R6K|FKBP3_uc010tqf.2_5'Flank NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA. 6 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 GGACGGCAAAGAACGCTTTTT 0.582 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia NAA30 122830 broad.mit.edu 37 14 57858239 57858239 + Silent SNP T T G TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr14:57858239T>G uc001xcx.4 + 1 718 c.564T>G c.(562-564)tcT>tcG p.S188S NAA30_uc010trk.2_Intron|NAA30_uc010aow.3_Intron NM_001011713 NP_001011713 Q147X3 NAA30_HUMAN Homo sapiens N(alpha)-acetyltransferase 30, NatC catalytic subunit (NAA30), mRNA. 188 cytoplasm peptide alpha-N-acetyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2) 13 GGCTGCTGTCTTCGTCCCTGA 0.657 ACOT2 641371 broad.mit.edu 37 14 74004293 74004293 + Silent SNP C C T TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr14:74004293C>T uc001xol.1 + 0 366 c.168C>T c.(166-168)acC>acT p.T56T HEATR4_uc021rwe.1_Intron|HEATR4_uc021rwf.1_Intron|ACOT2_uc010tuc.2_Silent_p.T56T NM_001037161 NP_001032238 P49753 ACOT2_HUMAN Homo sapiens acyl-CoA thioesterase 1 (ACOT1), mRNA. 118 acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process mitochondrion carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639) GCGCCGACACCCTTGGCGAGC 0.746 TSHR 7253 broad.mit.edu 37 14 81610003 81610003 + Missense_Mutation SNP G G T TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr14:81610003G>T uc001xvd.1 + 9 1757 c.1601G>T c.(1600-1602)cGc>cTc p.R534L NM_000369 NP_000360 P16473 TSHR_HUMAN Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA. 534 cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1) 337 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) CGGAAGATCCGCCTCAGGCAC 0.562 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism IFI27 3429 broad.mit.edu 37 14 94582172 94582172 + Silent SNP C C G TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr14:94582172C>G uc021sba.1 + 3 290 c.167C>G c.(166-168)gCg>gGg p.A56G IFI27_uc001ycn.1_Non-coding_Transcript NM_001130080 NP_001123552 P40305 IFI27_HUMAN Homo sapiens interferon, alpha-inducible protein 27 (IFI27), transcript variant 1, mRNA. 56 activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|type I interferon-mediated signaling pathway integral to membrane|mitochondrion breast(1)|lung(3) 4 Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206) TTCACTGCGGCGGGAATCGCC 0.642 MGA 23269 broad.mit.edu 37 15 42032290 42032290 + Missense_Mutation SNP C C T TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr15:42032290C>T uc010ucy.2 + 13 4655 c.4474C>T c.(4474-4476)Cgt>Tgt p.R1492C MGA_uc010ucz.2_Missense_Mutation_p.R1492C|MGA_uc010uda.1_Missense_Mutation_p.R108C NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA. 1492 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) CAGGAAACCACGTACCCTGTT 0.532 LRRK1 79705 broad.mit.edu 37 15 101592102 101592102 + Missense_Mutation SNP C C T TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr15:101592102C>T uc002bwr.3 + 23 3945 c.3626C>T c.(3625-3627)cCg>cTg p.P1209L LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_5'Flank NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA. 1209 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CCCAGACACCCGGACCTCCCC 0.617 SALL1 6299 broad.mit.edu 37 16 51171034 51171034 + Missense_Mutation SNP C C G TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr16:51171034C>G uc021tif.1 - 2 3995 c.3673G>C c.(3673-3675)Gtc>Ctc p.V1225L SALL1_uc021tid.1_3'UTR|SALL1_uc021tie.1_3'UTR|SALL1_uc010cbv.3_Missense_Mutation_p.V174L NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 1322 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S1225L(1)|p.S1225S(1) NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TAACTCGTGACGATCTCCTTG 0.592 GNAO1 2775 broad.mit.edu 37 16 56374784 56374784 + Missense_Mutation SNP C C G TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr16:56374784C>G uc002eit.4 + 6 1659 c.762C>G c.(760-762)atC>atG p.I254M GNAO1_uc002eiu.4_Intron NM_138736 NP_620073 P09471 GNAO_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O (GNAO1), transcript variant 2, mRNA. 254 dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1) 17 all_neural(199;0.159) TTGACAGCATCTGCAACAACA 0.527 PMFBP1 83449 broad.mit.edu 37 16 72158703 72158703 + Missense_Mutation SNP G G A TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr16:72158703G>A uc002fcc.4 - 16 2739 c.2567C>T c.(2566-2568)gCc>gTc p.A856V PMFBP1_uc002fcd.3_Missense_Mutation_p.A851V|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Missense_Mutation_p.A706V|PMFBP1_uc010cgo.1_Missense_Mutation_p.A147V NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA. 856 p.E855*(1) NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) TTTTAAGGCGGCCATCTCCTC 0.572 OREG0023927 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) GAN 8139 broad.mit.edu 37 16 81390535 81390535 + Missense_Mutation SNP A A G TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr16:81390535A>G uc002fgo.3 + 3 927 c.779A>G c.(778-780)gAg>gGg p.E260G NM_022041 NP_071324 Q9H2C0 GAN_HUMAN Homo sapiens gigaxonin (GAN), mRNA. 260 cell death cytoplasm|neurofilament protein binding p.G259G(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2) 25 Colorectal(91;0.153) CAGCAAGGGGAGGCGATGCTG 0.493 FBXO31 79791 broad.mit.edu 37 16 87367838 87367838 + Missense_Mutation SNP G G C TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr16:87367838G>C uc002fjw.3 - 7 1095 c.1051C>G c.(1051-1053)Cgg>Ggg p.R351G FBXO31_uc010vot.2_Missense_Mutation_p.R179G|FBXO31_uc002fjv.3_Missense_Mutation_p.R243G NM_024735 NP_079011 Q5XUX0 FBX31_HUMAN Homo sapiens F-box protein 31 (FBXO31), mRNA. 351 cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process SCF ubiquitin ligase complex cyclin binding p.R351W(1)|p.R179W(1) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0272) AGCTGGATCCGATGCCTCAGG 0.657 BCL6B 255877 broad.mit.edu 37 17 6929925 6929925 + Missense_Mutation SNP C C T TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr17:6929925C>T uc010clt.1 + 5 1101 c.1039C>T c.(1039-1041)Cgt>Tgt p.R347C BCL6B_uc002geg.2_Missense_Mutation_p.R347C NM_181844 NP_862827 Q8N143 BCL6B_HUMAN Homo sapiens B-cell CLL/lymphoma 6, member B (BCL6B), mRNA. 347 nucleus zinc ion binding skin(1) 1 TGCCAGTCATCGTACAGTGCA 0.582 MAP2K3 5606 broad.mit.edu 37 17 21208414 21208414 + Missense_Mutation SNP G G A TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr17:21208414G>A uc002gys.3 + 8 1013 c.748G>A c.(748-750)Gac>Aac p.D250N MAP2K3_uc002gyt.3_Missense_Mutation_p.D221N|MAP2K3_uc021tsq.1_Missense_Mutation_p.D221N|MAP2K3_uc021tsr.1_Missense_Mutation_p.D221N NM_145109 NP_002747 P46734 MP2K3_HUMAN Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA. 250 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|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 cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) TGTCAAGTCCGACGTCTGGAG 0.647 UBC 7316 broad.mit.edu 37 17 21731067 21731067 + Frame_Shift_Del DEL C C - TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr17:21731067delC uc002gyy.3 + 1 494 c.369delC c.(367-369)ggcfs p.G123fs P0CG48 UBC_HUMAN SubName: Full=Uncharacterized protein; 275 Ubiquitin-like 2. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding p.A122V(1)|p.G123A(1) breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) TCTTTGCAGGCAAGCAGCTGG 0.542 UBC 7316 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr17:21731144T>G uc002gyy.3 + 1 571 c.446T>G c.(445-447)cTg>cGg p.L149R P0CG48 UBC_HUMAN SubName: Full=Uncharacterized protein; 301 Ubiquitin-like 2. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding p.L149R(18)|p.R148S(1) breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) GTCCTGCGTCTGAGAGGTGGT 0.542 LGALS9 3965 broad.mit.edu 37 17 25974373 25974373 + Missense_Mutation SNP G G A rs149003631 TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr17:25974373G>A uc002gzp.3 + 9 954 c.836G>A c.(835-837)cGc>cAc p.R279H LGALS9_uc002gzq.3_Missense_Mutation_p.R247H|LGALS9_uc002gzr.3_Missense_Mutation_p.R190H|LGALS9_uc010waa.2_Intron NM_009587 NP_033665 O00182 LEG9_HUMAN Homo sapiens lectin, galactoside-binding, soluble, 9 (LGALS9), transcript variant 1, mRNA. 279 Galectin 2. positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|extracellular region galactose binding|signal transducer activity endometrium(3)|large_intestine(2)|lung(12)|skin(1) 18 Lung NSC(42;0.0103) BRCA - Breast invasive adenocarcinoma(3;0.0141) UCEC - Uterine corpus endometrioid carcinoma (53;0.155) GCTGTGGTCCGCAACACCCAG 0.587 SSH2 85464 broad.mit.edu 37 17 27977712 27977712 + Missense_Mutation SNP C C A TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr17:27977712C>A uc002heo.1 - 11 1105 c.1105G>T c.(1105-1107)Gcg>Tcg p.A369S SSH2_uc010wbh.1_Missense_Mutation_p.A396S|SSH2_uc002hep.1_Missense_Mutation_p.A369S NM_033389 NP_203747 Q76I76 SSH2_HUMAN Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA. 369 Tyrosine-protein phosphatase. actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TTCCAGTACGCCAGGAGATCC 0.428 BPTF 2186 broad.mit.edu 37 17 65889772 65889775 + Frame_Shift_Del DEL GACT GACT - TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr17:65889772_65889775delGACT uc002jgf.3 + 5 2403_2406 c.2342_2345delGACT c.(2341-2346)agactgfs p.R781fs BPTF_uc002jge.3_Frame_Shift_Del_p.R907fs|BPTF_uc010wqm.1_Frame_Shift_Del_p.R844fs NM_182641 NP_872579 Q12830 BPTF_HUMAN Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA. 907 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) TCTACTCTGAGACTGACTATCACC 0.412 RNF157 114804 broad.mit.edu 37 17 74157723 74157723 + Missense_Mutation SNP G G A TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr17:74157723G>A uc002jqz.3 - 10 1027 c.958C>T c.(958-960)Cgg>Tgg p.R320W RNF157_uc002jra.3_Missense_Mutation_p.R320W NM_052916 NP_443148 Q96PX1 RN157_HUMAN Homo sapiens ring finger protein 157 (RNF157), mRNA. 320 zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 25 LUSC - Lung squamous cell carcinoma(166;0.187) AGCAGTGCCCGGAAGGCTGTG 0.507 SMAD7 4092 broad.mit.edu 37 18 46447857 46447857 + Frame_Shift_Del DEL G G - TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr18:46447857delG uc002ldg.3 - 3 1453 c.1166delC c.(1165-1167)ccgfs p.P389fs SMAD7_uc002ldf.3_Frame_Shift_Del_p.P201fs|SMAD7_uc010xde.2_Frame_Shift_Del_p.P174fs|SMAD7_uc021ujr.1_Frame_Shift_Del_p.P388fs NM_005904 NP_005895 O15105 SMAD7_HUMAN Homo sapiens SMAD family member 7 (SMAD7), transcript variant 1, mRNA. 389 MH2. adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 10 Colorectal(1;0.0518) GCCCGTCCACGGCTGCTGCAT 0.582 LMAN1 3998 broad.mit.edu 37 18 57022568 57022568 + Missense_Mutation SNP C C A TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr18:57022568C>A uc002lhz.3 - 2 486 c.454G>T c.(454-456)Gat>Tat p.D152Y LMAN1_uc010xek.1_Missense_Mutation_p.D152Y NM_005570 NP_005561 P49257 LMAN1_HUMAN Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA. 152 L-type lectin-like. blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane mannose binding|metal ion binding|unfolded protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Colorectal(73;0.0946) Antihemophilic Factor(DB00025) TCAAAAGAATCAAAAAATATT 0.353 LSR 51599 broad.mit.edu 37 19 35741541 35741541 + Missense_Mutation SNP C C T TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr19:35741541C>T uc002nyl.3 + 1 800 c.577C>T c.(577-579)Cgg>Tgg p.R193W LSR_uc010xsr.2_Missense_Mutation_p.R193W|LSR_uc002nym.3_Missense_Mutation_p.R193W|LSR_uc002nyn.3_Missense_Mutation_p.R193W|LSR_uc002nyo.3_Missense_Mutation_p.R193W|LSR_uc002nyp.3_Missense_Mutation_p.R156W NM_205834 NP_991403 Q86X29 LSR_HUMAN Homo sapiens lipolysis stimulated lipoprotein receptor (LSR), transcript variant 2, mRNA. 193 Ig-like V-type. embryo development|liver development chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 13 all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162) Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) CTACCAGGGCCGGAGGATTAC 0.642 ATP4A 495 broad.mit.edu 37 19 36046636 36046636 + Missense_Mutation SNP C C T TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr19:36046636C>T uc002oal.1 - 12 1977 c.1948G>A c.(1948-1950)Gag>Aag p.E650K ATP4A_uc010eee.1_5'UTR NM_000704 NP_000695 P20648 ATP4A_HUMAN Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA. 650 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) TCCACTGTCTCGCTGCCTTCC 0.622 MYT1L 23040 broad.mit.edu 37 2 1926184 1926184 + Missense_Mutation SNP C C T TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr2:1926184C>T uc002qxe.3 - 9 2184 c.1357G>A c.(1357-1359)Gcc>Acc p.A453T MYT1L_uc002qxd.3_Missense_Mutation_p.A453T|MYT1L_uc010ewl.2_Non-coding_Transcript NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA. 453 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) GCTTCCATGGCCATCTTCTCC 0.537 FAM98A 25940 broad.mit.edu 37 2 33810356 33810356 + Silent SNP G G A rs34080556 TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr2:33810356G>A uc002rpa.1 - 7 1118 c.1044C>T c.(1042-1044)taC>taT p.Y348Y FAM98A_uc010yne.1_Silent_p.Y153Y|FAM98A_uc010ynd.1_Silent_p.Y179Y|FAM98A_uc002roz.1_Silent_p.Y186Y NM_015475 NP_056290 Q8NCA5 FA98A_HUMAN Homo sapiens family with sequence similarity 98, member A (FAM98A), mRNA. 349 Gly-rich. NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1) 24 all_hematologic(175;0.115) CTCGTCCTCCGTATGAGGAAT 0.597 SNRNP200 23020 broad.mit.edu 37 2 96957584 96957584 + Missense_Mutation SNP G G A TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr2:96957584G>A uc002svu.3 - 16 2347 c.2215C>T c.(2215-2217)Cgg>Tgg p.R739W NM_014014 NP_054733 O75643 U520_HUMAN Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA. 739 Helicase C-terminal 1. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.R739W(2) breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 CACATGTCCCGGATGGCCCTG 0.557 ST6GAL2 84620 broad.mit.edu 37 2 107460248 107460248 + Missense_Mutation SNP C C T TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr2:107460248C>T uc002tdq.3 - 1 305 c.186G>A c.(184-186)atG>atA p.M62I ST6GAL2_uc002tdr.3_Missense_Mutation_p.M62I|ST6GAL2_uc002tds.3_Missense_Mutation_p.M62I NM_001142351 NP_115917 Q96JF0 SIAT2_HUMAN Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA. 62 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 GTGCGGCGCCCATGATGGCCC 0.711 WASH2P 375260 broad.mit.edu 37 2 114355998 114355998 + Missense_Mutation SNP C C G TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr2:114355998C>G uc002tkh.3 + 4 674 c.616C>G c.(616-618)Cac>Gac p.H206D WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA. CCAAGGTGGGCACTTGATGTC 0.612 TTN 7273 broad.mit.edu 37 2 179454762 179454762 + Missense_Mutation SNP C C T TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr2:179454762C>T uc021vsy.1 - 252 54211 c.53986G>A c.(53986-53988)Gtt>Att p.V17996I MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V11691I|TTN_uc021vta.1_Missense_Mutation_p.V11624I|TTN_uc021vtb.1_Missense_Mutation_p.V11499I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 18923 Fibronectin type-III 30. 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) AGGACGTTAACGATGGCTGAA 0.428 TTN 7273 broad.mit.edu 37 2 179584862 179584862 + Missense_Mutation SNP A A G TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr2:179584862A>G uc021vsy.1 - 77 20000 c.19775T>C c.(19774-19776)aTc>aCc p.I6592T TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I3253T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 7519 Ig-like 47. 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) ACTCTCTCTGATGACTTCACC 0.448 ZDBF2 57683 broad.mit.edu 37 2 207173138 207173138 + Missense_Mutation SNP G G A TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr2:207173138G>A uc002vbp.2 + 4 4136 c.3886G>A c.(3886-3888)Gta>Ata p.V1296I NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA. 1296 nucleic acid binding|zinc ion binding p.V1296I(3) endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 CCTTCAGTCCGTAACTAATAA 0.383 SPEG 10290 broad.mit.edu 37 2 220346370 220346370 + Missense_Mutation SNP G G A TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr2:220346370G>A uc010fwg.3 + 27 5533 c.5533G>A c.(5533-5535)Gca>Aca p.A1845T NM_005876 NP_005867 Q15772 SPEG_HUMAN Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA. 1845 Protein kinase 1. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GAGACCTACCGCAGAAGAGAC 0.458 DGKD 8527 broad.mit.edu 37 2 234360642 234360642 + Missense_Mutation SNP G G A rs145038453 byFrequency TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr2:234360642G>A uc002vui.1 + 17 2212 c.2200G>A c.(2200-2202)Ggt>Agt p.G734S DGKD_uc002vuj.1_Missense_Mutation_p.G690S|DGKD_uc010fyh.1_Missense_Mutation_p.G601S|DGKD_uc010fyi.1_Non-coding_Transcript NM_152879 NP_690618 Q16760 DGKD_HUMAN Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA. 734 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity p.G734fs*12(1)|p.P733S(1) central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1) 38 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) TTCCTTACCCGGTGGCTCAGT 0.493 GPR35 2859 broad.mit.edu 37 2 241569721 241569721 + Missense_Mutation SNP G G A TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr2:241569721G>A uc010fzi.2 + 5 1317 c.445G>A c.(445-447)Gtg>Atg p.V149M GPR35_uc010fzh.2_Missense_Mutation_p.V149M|GPR35_uc021vze.1_Missense_Mutation_p.V118M|GPR35_uc002vzs.2_Missense_Mutation_p.V118M NM_001195381 NP_001182310 Q9HC97 GPR35_HUMAN Homo sapiens G protein-coupled receptor 35 (GPR35), transcript variant 2, mRNA. 118 integral to plasma membrane G-protein coupled receptor activity NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 17 all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238) Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031) CTATGTGGCCGTGCGGCACCC 0.701 DTYMK 1841 broad.mit.edu 37 2 242617899 242617899 + Frame_Shift_Del DEL G G - TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr2:242617899delG uc002wbz.2 - 3 681 c.496delC c.(496-498)cagfs p.Q166fs DTYMK_uc010zpa.2_Frame_Shift_Del_p.Q142fs|DTYMK_uc002wca.2_Non-coding_Transcript|DTYMK_uc010zpb.2_Non-coding_Transcript|DTYMK_uc002wcb.1_5'Flank NM_012145 NP_036277 P23919 KTHY_HUMAN Homo sapiens deoxythymidylate kinase (thymidylate kinase) (DTYMK), transcript variant 1, mRNA. 166 cell cycle|cell proliferation|nucleobase, nucleoside and nucleotide interconversion cytosol ATP binding|nucleoside phosphate kinase activity|thymidylate kinase activity NS(1)|large_intestine(1)|lung(4)|urinary_tract(1) 7 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) TTCATGAGCTGGTGGAAACAC 0.582 PTGIS 5740 broad.mit.edu 37 20 48140704 48140704 + Missense_Mutation SNP C C T rs45571835 TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr20:48140704C>T uc002xut.3 - 5 800 c.746G>A c.(745-747)cGg>cAg p.R249Q PTGIS_uc010zyi.2_Missense_Mutation_p.R110Q NM_000961 NP_000952 Q16647 PTGIS_HUMAN Homo sapiens prostaglandin I2 (prostacyclin) synthase (PTGIS), mRNA. 249 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) Phenylbutazone(DB00812) CCGGTGGGCCCGCCTGGCCAG 0.627 ATP9A 10079 broad.mit.edu 37 20 50225158 50225158 + Missense_Mutation SNP T T C TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr20:50225158T>C uc002xwg.1 - 24 2644 c.2644A>G c.(2644-2646)Aca>Gca p.T882A ATP9A_uc010gih.1_Missense_Mutation_p.T746A|ATP9A_uc002xwf.1_Missense_Mutation_p.T54A NM_006045 NP_006036 O75110 ATP9A_HUMAN Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA. 882 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 breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 GTGTAAATTGTGGAGTACCTG 0.507 C20orf20 55257 broad.mit.edu 37 20 61430922 61430922 + Missense_Mutation SNP G G A TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr20:61430922G>A uc002ydi.3 + 4 613 c.542G>A c.(541-543)cGg>cAg p.R181Q NM_018270 NP_060740 Q9NV56 MRGBP_HUMAN Homo sapiens chromosome 20 open reading frame 20 (C20orf20), mRNA. 181 chromatin modification|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent H4/H2A histone acetyltransferase complex p.R181W(2)|p.S180S(1) endometrium(1)|lung(5)|skin(2)|urinary_tract(3) 11 Breast(26;3.65e-08) AAGCGCAGCCGGGTCACCGAC 0.582 KRTAP10-8 386681 broad.mit.edu 37 21 46032293 46032293 + Silent SNP C C T TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr21:46032293C>T uc002zfo.1 + 0 298 c.276C>T c.(274-276)gaC>gaT p.D92D TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198695 NP_941968 P60410 KR108_HUMAN Homo sapiens keratin associated protein 10-8 (KRTAP10-8), mRNA. 92 19 X 5 AA repeats of C-C-X(3). keratin filament breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 17 GCTGCACCGACTCCTGCACAC 0.662 IL17RA 23765 broad.mit.edu 37 22 17589233 17589233 + Missense_Mutation SNP T T C TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr22:17589233T>C uc002zly.3 + 12 1255 c.1124T>C c.(1123-1125)cTg>cCg p.L375P NM_014339 NP_055154 Q96F46 I17RA_HUMAN Homo sapiens interleukin 17 receptor A (IL17RA), mRNA. 375 fibroblast activation|positive regulation of interleukin-23 production integral to plasma membrane interleukin-17 receptor activity endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1) 30 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.241) CCCCCACCGCTGAAGCCCAGG 0.637 APOBEC3B 200315 broad.mit.edu 37 22 39355652 39355652 + Silent SNP G G A TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr22:39355652G>A uc003awn.2 + 1 305 c.135G>A c.(133-135)tcG>tcA p.S45S APOBEC3B_uc011aob.1_Silent_p.S27S|APOBEC3B_uc011aoc.1_Silent_p.S45S NM_145699 NP_663745 Q9UH17 ABC3B_HUMAN Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A (APOBEC3A), transcript variant 1, mRNA. 228 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 13 Melanoma(58;0.04) ATGGCACCTCGGTCAAGATGG 0.532 MCAT 27349 broad.mit.edu 37 22 43538975 43538975 + Missense_Mutation SNP G G A TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr22:43538975G>A uc003bdl.1 - 0 429 c.380C>T c.(379-381)gCa>gTa p.A127V MCAT_uc003bdm.1_Missense_Mutation_p.A127V NM_173467 NP_775738 Q8IVS2 FABD_HUMAN Homo sapiens malonyl CoA:ACP acyltransferase (mitochondrial) (MCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 127 fatty acid biosynthetic process mitochondrion [acyl-carrier-protein] S-malonyltransferase activity|binding breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1) 11 Ovarian(80;0.0694) GGCCAGCGATGCCACGAAGAT 0.682 MST1R 4486 broad.mit.edu 37 3 49940449 49940449 + Silent SNP G G A TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr3:49940449G>A uc003cxy.4 - 0 858 c.594C>T c.(592-594)taC>taT p.Y198Y MST1R_uc011bdc.2_Silent_p.Y198Y|MST1R_uc011bdd.2_Silent_p.Y198Y|MST1R_uc011bde.1_Silent_p.Y198Y|MST1R_uc011bdf.1_Silent_p.Y198Y|MST1R_uc011bdg.2_Silent_p.Y198Y NM_002447 NP_002438 Q04912 RON_HUMAN Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA. 198 Sema. 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) AGGATGCCACGTAGAAATAGG 0.632 FLNB 2317 broad.mit.edu 37 3 58145402 58145402 + Missense_Mutation SNP A A C TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr3:58145402A>C uc003djj.2 + 41 7175 c.7010A>C c.(7009-7011)gAg>gCg p.E2337A FLNB_uc010hne.2_Missense_Mutation_p.E2368A|FLNB_uc003djk.2_Missense_Mutation_p.E2326A|FLNB_uc010hnf.2_Missense_Mutation_p.E2313A|FLNB_uc003djl.2_Missense_Mutation_p.E2157A|FLNB_uc003djm.2_Missense_Mutation_p.E2144A NM_001457 NP_001448 O75369 FLNB_HUMAN Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA. 2337 Interaction with INPPL1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CACGTGTCTGAGCTGGAGCCA 0.572 OR5H1 26341 broad.mit.edu 37 3 97852262 97852262 + Missense_Mutation SNP T T A TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr3:97852262T>A uc011bgt.2 + 0 721 c.721T>A c.(721-723)Tgt>Agt p.C241S NM_001005338 NP_001005338 A6NKK0 OR5H1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA. 241 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1) 34 CTTTTCCACCTGTGGAGCCCA 0.408 CPZ 8532 broad.mit.edu 37 4 8605776 8605776 + Silent SNP C C T TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr4:8605776C>T uc003glm.3 + 3 744 c.570C>T c.(568-570)taC>taT p.Y190Y CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Silent_p.Y179Y|CPZ_uc003gln.3_Silent_p.Y53Y NM_001014447 NP_001014448 Q66K79 CBPZ_HUMAN Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA. 190 proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 ACCACTCCTACGCCCAGATGG 0.706 WDR1 9948 broad.mit.edu 37 4 10100717 10100718 + In_Frame_Ins INS - - TGCTCC TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr4:10100717_10100718insTGCTCC uc021xlv.1 - 3 558_559 c.275_276insGGAGCA c.(274-276)cac>caGGAGCAc p.91_92insQE WDR1_uc021xlw.1_Intron NM_017491 NP_059830 O75083 WDR1_HUMAN Homo sapiens WD repeat domain 1 (WDR1), transcript variant 1, mRNA. 91 platelet activation|platelet degranulation|sensory perception of sound cytoskeleton|cytosol|extracellular region actin binding endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1) 12 STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232) ACTTCAACAGGTGCTCCTTCTG 0.589 HCN1 348980 broad.mit.edu 37 5 45262443 45262443 + Silent SNP C C T TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr5:45262443C>T uc003jok.3 - 7 2278 c.2253G>A c.(2251-2253)ccG>ccA p.P751P NM_021072 NP_066550 O60741 HCN1_HUMAN Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA. 751 Gln-rich. integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 GCTGCGGGGACGgctgctgtg 0.637 KCNN2 3781 broad.mit.edu 37 5 113740368 113740368 + Silent SNP C C T TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr5:113740368C>T uc003kqo.3 + 2 1273 c.816C>T c.(814-816)gtC>gtT p.V272V NM_021614 NP_067627 Q9H2S1 KCNN2_HUMAN Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 (KCNN2), transcript variant 1, mRNA. 272 integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity p.V272A(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) TTGCCAGAGTCATGCTTTTAC 0.393 MAT2B 27430 broad.mit.edu 37 5 162932707 162932707 + Silent SNP G G A TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr5:162932707G>A uc003lzk.3 + 0 123 c.15G>A c.(13-15)gaG>gaA p.E5E MAT2B_uc003lzj.3_Intron|MAT2B_uc003lzl.1_Silent_p.E5E NM_013283 NP_037415 Q9NZL9 MAT2B_HUMAN Homo sapiens methionine adenosyltransferase II, beta (MAT2B), transcript variant 1, mRNA. 5 extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process cytosol|methionine adenosyltransferase complex|nucleus dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding p.M4I(1) endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1) 14 Renal(175;0.000281) Medulloblastoma(196;0.0208)|all_neural(177;0.0765) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797) L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) TGGGGCGGGAGAAAGAGCTCT 0.706 OREG0017003 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SLC17A1 6568 broad.mit.edu 37 6 25819769 25819769 + Nonsense_Mutation SNP G G A TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr6:25819769G>A uc003nfh.4 - 4 615 c.499C>T c.(499-501)Cga>Tga p.R167* SLC17A1_uc011djy.2_Non-coding_Transcript|SLC17A1_uc010jqb.1_Nonsense_Mutation_p.R167*|SLC17A1_uc010jqc.1_Nonsense_Mutation_p.R165* NM_005074 NP_005065 Q14916 NPT1_HUMAN Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA. 167 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity p.R167L(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 36 AGTCGGCCTCGTTCCAGGGGA 0.398 PGBD1 84547 broad.mit.edu 37 6 28269724 28269724 + Missense_Mutation SNP G G A TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr6:28269724G>A uc003nky.3 + 6 2513 c.2093G>A c.(2092-2094)tGc>tAc p.C698Y PGBD1_uc003nkz.3_Missense_Mutation_p.C698Y NM_032507 NP_115896 Q96JS3 PGBD1_HUMAN Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA. 698 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 41 ATCAGTCTGTGCTCCAATGCT 0.388 TREML2 79865 broad.mit.edu 37 6 41166020 41166020 + Missense_Mutation SNP G G A TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr6:41166020G>A uc010jxm.1 - 1 382 c.203C>T c.(202-204)gCc>gTc p.A68V NM_024807 NP_079083 Q5T2D2 TRML2_HUMAN Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA. 68 Ig-like V-type. T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1) 18 Ovarian(28;0.0418)|Colorectal(47;0.196) CCAGACTCGGGCAAAGCCAGG 0.572 RPF2 84154 broad.mit.edu 37 6 111329240 111329240 + Splice_Site SNP G G A TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr6:111329240G>A uc003pun.3 + 7 413 c.394_splice c.e7-1 p.N132_splice RPF2_uc003puo.3_Splice_Site_p.N69_splice NM_032194 NP_115570 Q9H7B2 RPF2_HUMAN Homo sapiens ribosome production factor 2 homolog (S. cerevisiae) (RPF2), mRNA. 132 Brix. nucleolus protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2) 7 TTTTTTTTTAGAACAGTAAAT 0.259 AKAP9 10142 broad.mit.edu 37 7 91674419 91674419 + Missense_Mutation SNP C C T TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr7:91674419C>T uc003ulg.3 + 20 5485 c.5260C>T c.(5260-5262)Ctt>Ttt p.L1754F AKAP9_uc003ulf.3_Missense_Mutation_p.L1754F|AKAP9_uc003uli.3_Missense_Mutation_p.L1379F NM_005751 NP_005742 Q99996 AKAP9_HUMAN Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA. 1766 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TCGCCATGTCCTTGGGATTCT 0.423 T BRAF papillary thyroid PPP1R3A 5506 broad.mit.edu 37 7 113519263 113519263 + Silent SNP A A G TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr7:113519263A>G uc010ljy.1 - 3 1915 c.1884T>C c.(1882-1884)aaT>aaC p.N628N NM_002711 NP_002702 Q16821 PPR3A_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA. 628 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 AAAGATAATCATTCCTCAAAA 0.388 TRPV6 55503 broad.mit.edu 37 7 142573411 142573411 + Missense_Mutation SNP G G A TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr7:142573411G>A uc003wbx.2 - 7 1161 c.932C>T c.(931-933)aCg>aTg p.T311M TRPV6_uc003wbw.1_Missense_Mutation_p.T97M|TRPV6_uc010lou.1_Missense_Mutation_p.T182M NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA. 311 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding p.Q310E(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) CTTCACCGGCGTCTGGTCCAG 0.592 OR2F1 26211 broad.mit.edu 37 7 143657660 143657660 + Silent SNP C C T TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr7:143657660C>T uc003wds.1 + 0 641 c.597C>T c.(595-597)atC>atT p.I199I NM_012369 NP_036501 Q13607 OR2F1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA. 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) AGGTCACCATCATGGTGTCTA 0.478 CNTNAP2 26047 broad.mit.edu 37 7 146741054 146741054 + Missense_Mutation SNP C C T TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr7:146741054C>T uc003weu.2 + 3 974 c.458C>T c.(457-459)cCg>cTg p.P153L NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA. 153 F5/8 type C. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TTACAGCATCCGATTATTGCC 0.423 HNSCC(39;0.1) DLC1 10395 broad.mit.edu 37 8 12946050 12946050 + Missense_Mutation SNP T T C TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr8:12946050T>C uc003wwm.2 - 15 4682 c.4238A>G c.(4237-4239)cAg>cGg p.Q1413R DLC1_uc003wwk.1_Missense_Mutation_p.Q976R|DLC1_uc003wwl.1_Missense_Mutation_p.Q1010R|DLC1_uc011kxx.1_Missense_Mutation_p.Q902R NM_182643 NP_872584 Q96QB1 RHG07_HUMAN Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA. 1413 START. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding p.Y1412C(1) NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 TTGGACATACTGGTAAATTTC 0.423 ADAM2 2515 broad.mit.edu 37 8 39607192 39607192 + Silent SNP A A G TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr8:39607192A>G uc003xnj.3 - 16 1944 c.1869T>C c.(1867-1869)gaT>gaC p.D623D ADAM2_uc003xnk.3_Silent_p.D604D|ADAM2_uc011lck.2_Silent_p.D560D|ADAM2_uc003xnl.3_Silent_p.D467D NM_001464 NP_001455 Q99965 ADAM2_HUMAN Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA. 623 EGF-like. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TTACACCTCTATCATTGCATT 0.368 TTPA 7274 broad.mit.edu 37 8 63985639 63985639 + Silent SNP T T C TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr8:63985639T>C uc003xux.2 - 1 245 c.213A>G c.(211-213)aaA>aaG p.K71K NM_000370 NP_000361 P49638 TTPA_HUMAN Homo sapiens tocopherol (alpha) transfer protein (TTPA), mRNA. 71 lipid metabolic process transporter activity|vitamin E binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8) 15 Breast(64;0.0716) all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123) Vitamin E(DB00163) TATAATAGTTTTTTAGTAACT 0.338 REXO1L1P 254958 broad.mit.edu 37 8 86567341 86567341 + Missense_Mutation SNP G G T TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr8:86567341G>T uc003ydl.1 - 0 565 c.478C>A c.(478-480)Ctg>Atg p.L160M NM_172239 NP_758439 Q8IX06 GOR_HUMAN Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 (REXO1L1), mRNA. 517 cytoplasm|nucleus exonuclease activity|nucleic acid binding endometrium(1)|lung(4) 5 ACGCGGGTCAGCTCCAGGCCA 0.567 RIMS2 9699 broad.mit.edu 37 8 105263256 105263256 + Silent SNP G G A rs143698299 by1000genomes TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr8:105263256G>A uc003yls.3 + 26 3991 c.3750G>A c.(3748-3750)ccG>ccA p.P1250P RIMS2_uc003ylp.3_Silent_p.P1232P|RIMS2_uc003ylw.2_Silent_p.P1239P|RIMS2_uc003ylq.3_Silent_p.P1046P|RIMS2_uc003ylr.3_Silent_p.P1071P NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA. 1294 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CCCAAGCACCGTATGTAAAAG 0.408 HNSCC(12;0.0054) CPSF1 29894 broad.mit.edu 37 8 145624415 145624415 + Missense_Mutation SNP G G A TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr8:145624415G>A uc003zcj.3 - 15 1556 c.1481C>T c.(1480-1482)cCc>cTc p.P494L NM_013291 NP_037423 Q10570 CPSF1_HUMAN Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA. 494 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) GTCCGGCTCGGGGCTGTTCTG 0.692 FAM75A7 727905 broad.mit.edu 37 9 65507531 65507531 + Missense_Mutation SNP G G A TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr9:65507531G>A uc004adx.4 - 2 313 c.284C>T c.(283-285)tCg>tTg p.S95L NM_015667 NP_056482 Q8IWB4 F75A7_HUMAN Homo sapiens family with sequence similarity 75, member A7 (FAM75A7), mRNA. 95 integral to membrane breast(1)|large_intestine(1)|lung(4)|ovary(1) 7 AAGCAGGTCCGAAGTCTCCTC 0.627 PGM5 5239 broad.mit.edu 37 9 70999452 70999452 + Missense_Mutation SNP C C A TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr9:70999452C>A uc004agr.3 + 2 792 c.563C>A c.(562-564)cCa>cAa p.P188Q NM_021965 NP_068800 Q15124 PGM5_HUMAN Homo sapiens phosphoglucomutase 5 (PGM5), mRNA. 188 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 34 AAATTCAAACCATTCAGAGGT 0.378 WNK2 65268 broad.mit.edu 37 9 96079849 96079849 + Silent SNP G G A TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chr9:96079849G>A uc004ati.1 + 28 6675 c.6675G>A c.(6673-6675)gcG>gcA p.A2225A WNK2_uc011lud.1_Silent_p.A2188A|WNK2_uc004atj.3_Silent_p.A2188A|WNK2_uc004atk.3_Silent_p.A1713A NM_006648 NP_006639 Q9Y3S1 WNK2_HUMAN Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA. 2225 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 TGCCCCCAGCGCCCGGCCCTC 0.647 CXorf59 286464 broad.mit.edu 37 X 36103466 36103466 + Missense_Mutation SNP C C T TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chrX:36103466C>T uc004ddk.1 + 4 638 c.452C>T c.(451-453)tCg>tTg p.S151L NM_173695 NP_775966 Q8N9S7 CX059_HUMAN Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA. 151 integral to membrane p.S151S(1) breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2) 34 TCATCAACCTCGCCACCCCAA 0.338 FAM47C 442444 broad.mit.edu 37 X 37028621 37028621 + Missense_Mutation SNP G G T TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chrX:37028621G>T uc004ddl.2 + 0 2190 c.2138G>T c.(2137-2139)aGt>aTt p.S713I NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA. 713 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 CGGGTGTCCAGTCTCCACGCG 0.647 DGKK 139189 broad.mit.edu 37 X 50146548 50146548 + Missense_Mutation SNP C C A TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chrX:50146548C>A uc010njr.2 - 5 1170 c.1126G>T c.(1126-1128)Gac>Tac p.D376Y NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA. 376 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding p.D172N(1) central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) CACTTGCAGTCTTTGCTTGCT 0.458 MED12 9968 broad.mit.edu 37 X 70342412 70342412 + Missense_Mutation SNP G G C TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chrX:70342412G>C uc004dyy.3 + 8 1502 c.1303G>C c.(1303-1305)Gtt>Ctt p.V435L MED12_uc011mpq.1_Missense_Mutation_p.V435L|MED12_uc004dyz.3_Missense_Mutation_p.V435L|MED12_uc004dza.3_Missense_Mutation_p.V282L|MED12_uc022byq.1_5'Flank NM_005120 NP_005111 Q93074 MED12_HUMAN Homo sapiens mediator complex subunit 12 (MED12), mRNA. 435 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) GGGACAGGCAGTTGAAGTTCG 0.468 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome FGF16 8823 broad.mit.edu 37 X 76711875 76711875 + Silent SNP C C T TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chrX:76711875C>T uc011mqp.2 + 1 213 c.213C>T c.(211-213)taC>taT p.Y71Y NM_003868 NP_003859 O43320 FGF16_HUMAN Homo sapiens fibroblast growth factor 16 (FGF16), mRNA. 162 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus extracellular space growth factor activity NS(1)|breast(1)|lung(2) 4 GACAGTATTACGTGGCCCTGA 0.463 ATP7A 538 broad.mit.edu 37 X 77264612 77264612 + Missense_Mutation SNP C C T TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chrX:77264612C>T uc004ecx.4 + 6 1881 c.1721C>T c.(1720-1722)aCg>aTg p.T574M ATP7A_uc004ecw.2_Missense_Mutation_p.T574M NM_000052 NP_000043 Q04656 ATP7A_HUMAN Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA. 574 HMA 6. ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity p.T574M(3) breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 AGGGGAATGACGTGTGCCTCC 0.388 TAF7L 54457 broad.mit.edu 37 X 100531023 100531023 + Missense_Mutation SNP C C A TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chrX:100531023C>A uc004ehb.3 - 10 1275 c.1249G>T c.(1249-1251)Gat>Tat p.D417Y TAF7L_uc004eha.3_Missense_Mutation_p.D257Y|TAF7L_uc004ehc.2_Missense_Mutation_p.D331Y NM_024885 NP_001161946 Q5H9L4 TAF7L_HUMAN Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA. 417 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 ATGATGAGATCCTTCTGTCTT 0.353 SRPK3 26576 broad.mit.edu 37 X 153050273 153050273 + Silent SNP A A G TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chrX:153050273A>G uc004fik.3 + 17 3940 c.1515A>G c.(1513-1515)gaA>gaG p.E505E SRPK3_uc004fim.3_Silent_p.E405E|SRPK3_uc004fil.3_Silent_p.E439E|SRPK3_uc004fin.3_Silent_p.E438E|SRPK3_uc010nul.3_Silent_p.E363E NM_014370 NP_055185 Q9UPE1 SRPK3_HUMAN Homo sapiens SRSF protein kinase 3 (SRPK3), transcript variant 1, mRNA. 439 Protein kinase. cell differentiation|muscle organ development|muscle tissue development ATP binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1) 13 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) TCGGCGCCGAATACGGCCCCC 0.692 MTCP1 4515 broad.mit.edu 37 X 154294043 154294043 + Nonsense_Mutation SNP G G A TCGA-12-1597-01B-01D-1495-08 TCGA-12-1597-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d35c610-cc06-4aa5-8c96-2f7b7465069f ecbbe2f6-d86b-4498-be57-285695ea7eb2 g.chrX:154294043G>A uc004fmz.2 - 2 753 c.127C>T c.(127-129)Cga>Tga p.R43* MTCP1NB_uc004fmy.3_Intron NM_001018025 NP_001018025 P56278 MTCP1_HUMAN Homo sapiens mature T-cell proliferation 1 (MTCP1), nuclear gene encoding mitochondrial protein, mRNA. 43 cell proliferation large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1) 5 all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TGCTGGACTCGTGCCCTTAGG 0.458 T TRA@ T cell prolymphocytic leukemia