Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut ADAM29 11086 broad.mit.edu 37 4 175898746 175898746 + Missense_Mutation SNP A A T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr4:175898746A>T ENST00000359240.3 + 5 2740 c.2070A>T c.(2068-2070)ttA>ttT p.L690F ADAM29_ENST00000404450.4_Missense_Mutation_p.L690F|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.L690F|ADAM29_ENST00000445694.1_Missense_Mutation_p.L690F NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 690 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) TGTTTATTTTATTATGTTGTC 0.343000 9 19 0 0 0.004482 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50463939 50463939 + Silent SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr19:50463939G>A ENST00000447370.2 - 2 420 c.330C>T c.(328-330)ggC>ggT p.G110G SIGLEC11_ENST00000426971.2_Silent_p.G110G NM_052884.2 NP_443116.2 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 110 Ig-like V-type. cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) AGCTCCCTTTGCCGGGATCCC 0.587000 11 87 0 0 0.016723 0 0 PAPPA2 60676 broad.mit.edu 37 1 176738821 176738821 + Missense_Mutation SNP G G T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr1:176738821G>T ENST00000367662.3 + 16 5566 c.4402G>T c.(4402-4404)Gac>Tac p.D1468Y NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1468 Sushi 2. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.D1468Y(1) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CGGTGTTCCCGACCCGTCTTT 0.507000 16 102 0.000308642 0.00032539 0.024245 1 0 NFE2L2 4780 broad.mit.edu 37 2 178096545 178096545 + Missense_Mutation SNP G G C TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr2:178096545G>C ENST00000397062.3 - 5 1340 c.786C>G c.(784-786)gaC>gaG p.D262E NFE2L2_ENST00000397063.4_Missense_Mutation_p.D246E|NFE2L2_ENST00000464747.1_Missense_Mutation_p.D246E|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D239E NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 262 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) ACTGGTTGGGGTCTTCTGTGG 0.403000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 10 41 0 0 0.008291 0 0 FANCD2 2177 broad.mit.edu 37 3 10122836 10122836 + Missense_Mutation SNP A A G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr3:10122836A>G ENST00000287647.3 + 31 3122 c.3029A>G c.(3028-3030)cAa>cGa p.Q1010R FANCD2_ENST00000383806.1_Missense_Mutation_p.Q1010R|FANCD2_ENST00000419585.1_Missense_Mutation_p.Q1010R|FANCD2_ENST00000383807.1_Missense_Mutation_p.Q1010R NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 1010 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) AGATCTGCCCAAGAAATTGTT 0.408000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 18 46 0 0 0.007413 0 0 RFX5 5993 broad.mit.edu 37 1 151316211 151316211 + Missense_Mutation SNP G G T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr1:151316211G>T ENST00000290524.4 - 9 881 c.703C>A c.(703-705)Ctc>Atc p.L235I RFX5_ENST00000452671.2_Missense_Mutation_p.L235I|RFX5_ENST00000368870.2_Missense_Mutation_p.L235I|RFX5_ENST00000452513.2_Missense_Mutation_p.L195I NM_000449.3|NM_001025603.1 NP_000440.1|NP_001020774.1 P48382 RFX5_HUMAN regulatory factor X, 5 (influences HLA class II expression) 235 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GCAGAGATGAGATGCTGCTGT 0.582000 35 110 2.20262e-25 2.79959e-25 0.013726 1 0 HLA-DMB 3109 broad.mit.edu 37 6 32906490 32906490 + Missense_Mutation SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr6:32906490G>A ENST00000416244.2 - 2 502 c.308C>T c.(307-309)cCc>cTc p.P103L HLA-DMB_ENST00000418107.2_Missense_Mutation_p.P103L|XXbac-BPG181M17.5_ENST00000429234.1_Missense_Mutation_p.P135L P28068 DMB_HUMAN major histocompatibility complex, class II, DM beta 103 Beta-1. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 TCCCCAGAAGGGCTGGGTGTG 0.572000 25 77 0 0 0.018920 0 0 TRRAP 8295 broad.mit.edu 37 7 98608797 98608797 + Silent SNP C C A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr7:98608797C>A ENST00000359863.4 + 70 11228 c.11019C>A c.(11017-11019)acC>acA p.T3673T TRRAP_ENST00000355540.3_Silent_p.T3644T|TRRAP_ENST00000446306.3_Silent_p.T3662T NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 3673 PI3K/PI4K. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) AGATGTTCACCATCCAGCTGG 0.537000 20 73 1.96895e-08 2.23147e-08 0.016522 1 0 SETD2 29072 broad.mit.edu 37 3 47162207 47162207 + Missense_Mutation SNP C C G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr3:47162207C>G ENST00000409792.3 - 3 3961 c.3919G>C c.(3919-3921)Gat>Cat p.D1307H NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 1307 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) GATCTTGGATCCCAGTAACCA 0.473000 """N, F, S, Mis""" clear cell renal carcinoma 10 31 0 0 0.013537 0 0 KEAP1 9817 broad.mit.edu 37 19 10597411 10597411 + Missense_Mutation SNP T T C TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr19:10597411T>C ENST00000171111.5 - 6 2339 c.1792A>G c.(1792-1794)Aca>Gca p.T598A KEAP1_ENST00000393623.2_Missense_Mutation_p.T598A NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 598 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) CGGCCCGATGTCATTCGGGTC 0.567000 47 44 0 0 0.014410 0 0 SLC23A2 9962 broad.mit.edu 37 20 4880210 4880210 + Missense_Mutation SNP A A G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr20:4880210A>G ENST00000379333.1 - 6 865 c.473T>C c.(472-474)tTt>tCt p.F158S SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000338244.1_Missense_Mutation_p.F158S|SLC23A2_ENST00000424750.2_Missense_Mutation_p.F158S NM_203327.1 NP_976072.1 Q9UGH3 S23A2_HUMAN solute carrier family 23 (ascorbic acid transporter), member 2 158 L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 CCTGCATCCAAACGTTGTCTG 0.552000 71 176 0 0 0.014410 0 0 POTEE 445582 broad.mit.edu 37 2 131976382 131976382 + Missense_Mutation SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr2:131976382G>A ENST00000356920.5 + 1 501 c.407G>A c.(406-408)cGt>cAt p.R136H POTEE_ENST00000358087.5_Missense_Mutation_p.R136H|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 136 ATP binding TACCACGTCCGTGGAGAAGAT 0.592000 29 78 0 0 0.023175 0 0 DCTN1 1639 broad.mit.edu 37 2 74592723 74592723 + Missense_Mutation SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr2:74592723G>A ENST00000361874.3 - 25 3265 c.2948C>T c.(2947-2949)gCt>gTt p.A983V DCTN1_ENST00000409240.1_Missense_Mutation_p.A946V|DCTN1_ENST00000409438.1_Missense_Mutation_p.A849V|DCTN1_ENST00000409868.1_Missense_Mutation_p.A966V|DCTN1_ENST00000394003.3_Missense_Mutation_p.A976V|DCTN1_ENST00000409567.3_Missense_Mutation_p.A963V|DCTN1_ENST00000407639.2_Missense_Mutation_p.A849V NM_004082.4 NP_004073.2 Q14203 DCTN1_HUMAN dynactin 1 983 cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3) 45 ATCCTTGGCAGCACTGTCCAA 0.567000 3 63 0 0 0.004672 0 0 ATP2B4 493 broad.mit.edu 37 1 203682333 203682333 + Missense_Mutation SNP G G C TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr1:203682333G>C ENST00000357681.5 + 14 3375 c.2252G>C c.(2251-2253)cGg>cCg p.R751P ATP2B4_ENST00000367219.3_Missense_Mutation_p.R739P|ATP2B4_ENST00000367218.3_Missense_Mutation_p.R751P|ATP2B4_ENST00000391954.2_Missense_Mutation_p.R751P|ATP2B4_ENST00000341360.2_Missense_Mutation_p.R751P NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 751 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) CCTAAGCTTCGGGTCCTGGCG 0.537000 26 110 0 0 0.024334 0 0 MAP1A 4130 broad.mit.edu 37 15 43821107 43821107 + Missense_Mutation SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr15:43821107G>A ENST00000382031.1 + 5 8181 c.8150G>A c.(8149-8151)cGg>cAg p.R2717Q MAP1A_ENST00000300231.5_Missense_Mutation_p.R2479Q|MAP1A_ENST00000399453.1_Missense_Mutation_p.R2479Q P78559 MAP1A_HUMAN microtubule-associated protein 1A 2479 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) AGAGGGGGGCGGCGCCGGGTA 0.622000 17 33 0 0 0.007413 0 0 CD5L 922 broad.mit.edu 37 1 157811469 157811469 + Missense_Mutation SNP A A G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr1:157811469A>G ENST00000368174.4 - 1 119 c.23T>C c.(22-24)aTc>aCc p.I8T CD5L_ENST00000484609.1_Intron NM_005894.2 NP_005885.1 O43866 CD5L_HUMAN CD5 molecule-like 8 apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CTCACCAAGGATCAAGGAGAA 0.453000 5 25 0 0 0.014758 0 0 NOL8 55035 broad.mit.edu 37 9 95064013 95064013 + Missense_Mutation SNP C C G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr9:95064013C>G ENST00000545558.1 - 13 3487 c.2995G>C c.(2995-2997)Gaa>Caa p.E999Q NOL8_ENST00000542053.1_Missense_Mutation_p.E931Q|NOL8_ENST00000442668.2_Missense_Mutation_p.E999Q|NOL8_ENST00000358855.4_Missense_Mutation_p.E931Q|NOL8_ENST00000535387.1_Missense_Mutation_p.E961Q Q76FK4 NOL8_HUMAN nucleolar protein 8 999 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 16 TGGAATATTTCTTTCAGATCC 0.388000 5 11 0 0 0.014758 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125685719 125685719 + Silent SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chrX:125685719G>A ENST00000371126.1 - 1 1115 c.873C>T c.(871-873)gcC>gcT p.A291A NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 291 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 GTGCGCTCCCGGCTTTCCACA 0.607000 15 30 0 0 0.024245 0 0 BRSK1 84446 broad.mit.edu 37 19 55823324 55823324 + Missense_Mutation SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr19:55823324G>A ENST00000309383.1 + 19 2502 c.2225G>A c.(2224-2226)cGa>cAa p.R742Q BRSK1_ENST00000590333.1_Missense_Mutation_p.R758Q|BRSK1_ENST00000326848.7_Missense_Mutation_p.R437Q NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 742 establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) GCCCCACCCCGAAGCCTGCAG 0.697000 5 17 0 0 0.014758 0 0 PCDHGB6 56100 broad.mit.edu 37 5 140788292 140788292 + Missense_Mutation SNP A A C TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr5:140788292A>C ENST00000520790.1 + 1 523 c.523A>C c.(523-525)Aat>Cat p.N175H PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron NM_018926.2|NM_032100.1 NP_061749.1|NP_115271.1 breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2) 48 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATAAACTCTAATCCTTATTT 0.388000 10 7 0 0 0.006214 0 0 TCEANC2 127428 broad.mit.edu 37 1 54562121 54562121 + Missense_Mutation SNP C C T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr1:54562121C>T ENST00000234827.1 + 5 802 c.602C>T c.(601-603)aCg>aTg p.T201M TCEANC2_ENST00000371331.1_Missense_Mutation_p.T231M|TCEANC2_ENST00000498272.1_3'UTR NM_153035.1 NP_694580.1 Q96MN5 TEAN2_HUMAN transcription elongation factor A (SII) N-terminal and central domain containing 2 201 TFIIS central. transcription, DNA-dependent nucleus DNA binding kidney(1)|lung(3)|pancreas(1) 5 CCAGTCGGCACGTTTGTACAG 0.582000 7 53 0 0 0.003080 0 0 ZNF709 163051 broad.mit.edu 37 19 12575387 12575387 + Missense_Mutation SNP C C A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr19:12575387C>A ENST00000397732.3 - 4 1520 c.1349G>T c.(1348-1350)tGt>tTt p.C450F ZNF709_ENST00000428311.1_Missense_Mutation_p.C450F|CTD-3105H18.18_ENST00000598753.1_Intron NM_152601.3 NP_689814.1 Q8N972 ZN709_HUMAN zinc finger protein 709 450 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|upper_aerodigestive_tract(3) 6 ACACTGTTTACATTCATAGGG 0.403000 27 82 4.87955e-14 5.7706e-14 0.027356 1 0 APOBEC3B 9582 broad.mit.edu 37 22 39387518 39387518 + Missense_Mutation SNP A A G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr22:39387518A>G ENST00000402182.3 + 6 960 c.905A>G c.(904-906)cAc>cGc p.H302R APOBEC3B_ENST00000333467.3_Missense_Mutation_p.H302R|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.H277R Q9UH17 ABC3B_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B 302 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) GAGAACACACACGTGAGACTG 0.597000 14 212 0 0 0.004990 0 0 COPS7B 64708 broad.mit.edu 37 2 232653363 232653363 + Missense_Mutation SNP C C A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr2:232653363C>A ENST00000373608.3 + 2 190 c.83C>A c.(82-84)aCt>aAt p.T28N COPS7B_ENST00000409091.1_Intron|COPS7B_ENST00000410024.1_Missense_Mutation_p.T28N|COPS7B_ENST00000409295.1_Intron|COPS7B_ENST00000410017.1_Missense_Mutation_p.T28N|COPS7B_ENST00000350033.3_Missense_Mutation_p.T28N Q9H9Q2 CSN7B_HUMAN COP9 signalosome subunit 7B 28 cullin deneddylation cytoplasm|signalosome large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1) 8 all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025) Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) TCAGCCCTCACTGCTCTCATA 0.498000 29 41 8.58068e-18 1.03272e-17 0.007291 1 0 BCRP7 100133163 broad.mit.edu 37 22 18844766 18844766 + RNA SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr22:18844766G>A ENST00000412938.1 + 0 3016 CAGCCTCTGAGGGCAGCAGTG 0.557000 3 39 0 0 0.004672 0 0 ZNF142 7701 broad.mit.edu 37 2 219510940 219510940 + Nonsense_Mutation SNP T T A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr2:219510940T>A ENST00000411696.2 - 6 2184 c.1405A>T c.(1405-1407)Aag>Tag p.K469* ZNF142_ENST00000449707.1_Nonsense_Mutation_p.K469* P52746 ZN142_HUMAN zinc finger protein 142 469 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) AGGTAGTGCTTCCACTTGGTG 0.517000 43 56 0 0 0.007835 0 0 USP15 9958 broad.mit.edu 37 12 62715344 62715344 + Missense_Mutation SNP A A G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr12:62715344A>G ENST00000280377.5 + 5 633 c.575A>G c.(574-576)aAt>aGt p.N192S USP15_ENST00000353364.3_Missense_Mutation_p.N192S|USP15_ENST00000393654.3_Missense_Mutation_p.N192S|USP15_ENST00000312635.6_Missense_Mutation_p.N192S|USP15_ENST00000550632.1_3'UTR NM_001252078.1 NP_001239007.1 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 192 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 37 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) GAACCACTGAATAAACCAGAC 0.338000 8 19 0 0 0.004482 0 0 CSMD1 64478 broad.mit.edu 37 8 3432474 3432474 + Missense_Mutation SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr8:3432474G>A ENST00000602557.1 - 11 1895 c.1340C>T c.(1339-1341)cCg>cTg p.P447L CSMD1_ENST00000400186.3_Missense_Mutation_p.P447L|CSMD1_ENST00000537824.1_Missense_Mutation_p.P446L|CSMD1_ENST00000539096.1_Missense_Mutation_p.P446L|CSMD1_ENST00000520002.1_Missense_Mutation_p.P447L|CSMD1_ENST00000542608.1_Missense_Mutation_p.P446L|CSMD1_ENST00000602723.1_Missense_Mutation_p.P447L Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 447 CUB 3. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TACCTTGTCCGGGTCGGTGGT 0.522000 16 31 0 0 0.028581 0 0 RANBP10 57610 broad.mit.edu 37 16 67761784 67761784 + Missense_Mutation SNP C C T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr16:67761784C>T ENST00000317506.3 - 12 1605 c.1490G>A c.(1489-1491)cGg>cAg p.R497Q RANBP10_ENST00000536251.1_Missense_Mutation_p.R268Q|RANBP10_ENST00000448631.2_Missense_Mutation_p.R471Q|RANBP10_ENST00000602677.1_Missense_Mutation_p.R527Q|RANBP10_ENST00000411657.2_Missense_Mutation_p.R410Q NM_020850.1 NP_065901.1 Q6VN20 RBP10_HUMAN RAN binding protein 10 497 endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157) GAGCTGCCGCCGAGGATGCCT 0.622000 12 29 0 0 0.010729 0 0 STEAP4 79689 broad.mit.edu 37 7 87910314 87910314 + Silent SNP C C T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr7:87910314C>T ENST00000380079.4 - 4 1166 c.1065G>A c.(1063-1065)ggG>ggA p.G355G AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000301959.5_Silent_p.G179G|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000447758.1_RNA NM_001205315.1|NM_024636.3 NP_001192244.1|NP_078912.2 Q687X5 STEA4_HUMAN STEAP family member 4 355 Ferric oxidoreductase. fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3) 15 Esophageal squamous(14;0.00802) ACAGAAAAAACCCAAGTATTC 0.408000 19 34 0 0 0.006122 0 0 GCM1 8521 broad.mit.edu 37 6 52993147 52993147 + Missense_Mutation SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr6:52993147G>A ENST00000259803.7 - 6 1379 c.1168C>T c.(1168-1170)Ctc>Ttc p.L390F NM_003643.3 NP_003634.2 Q9NP62 GCM1_HUMAN glial cells missing homolog 1 (Drosophila) 390 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1) 24 Lung NSC(77;0.0755) TAGGTGAAGAGAAAGGGGTCT 0.443000 13 269 0 0 0.013537 0 0 CCT6P1 643253 broad.mit.edu 37 7 65224177 65224177 + RNA SNP T T C TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr7:65224177T>C ENST00000442266.1 + 0 814 CTCTTGCTTGTGGTGGGGTGG 0.398000 5 11 0 0 0.001984 0 0 CAMTA1 23261 broad.mit.edu 37 1 7798138 7798138 + Silent SNP C C T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr1:7798138C>T ENST00000303635.7 + 16 3985 c.3778C>T c.(3778-3780)Ctg>Ttg p.L1260L CAMTA1_ENST00000439411.2_Silent_p.L1260L NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 1260 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GCAGGAGAAGCTGCTTCCCAC 0.493000 T WWTR1 epitheliod hemangioendothelioma 9 41 0 0 0.004482 0 0 NFATC2IP 84901 broad.mit.edu 37 16 28975123 28975123 + Missense_Mutation SNP G G T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr16:28975123G>T ENST00000320805.4 + 8 1274 c.1199G>T c.(1198-1200)gGc>gTc p.G400V RP11-264B17.2_ENST00000569974.1_RNA|NFATC2IP_ENST00000568148.1_Missense_Mutation_p.G108V|NFATC2IP_ENST00000564978.1_Missense_Mutation_p.G121V NM_032815.3 NP_116204.3 Q8NCF5 NF2IP_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein 400 Ubiquitin-like. cytoplasm|nucleus breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2) 11 AAGCTTTCAGGCAGGGAGCTG 0.587000 9 29 0.000442599 0.000463027 0.006214 1 0 INPP4A 3631 broad.mit.edu 37 2 99160454 99160454 + Silent SNP C C T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr2:99160454C>T ENST00000074304.5 + 11 1326 c.933C>T c.(931-933)gaC>gaT p.D311D INPP4A_ENST00000523221.1_Silent_p.D311D|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409016.3_Silent_p.D311D|INPP4A_ENST00000409540.3_Silent_p.D311D|INPP4A_ENST00000545415.1_Silent_p.D311D|INPP4A_ENST00000409851.3_Silent_p.D311D NM_001134224.1 NP_001127696.1 Q96PE3 INP4A_HUMAN inositol polyphosphate-4-phosphatase, type I, 107kDa 311 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4) 43 ACCTGACCGACCTCCATCAGT 0.587000 3 5 0 0 0.004672 0 0 FBXO24 26261 broad.mit.edu 37 7 100198322 100198322 + Missense_Mutation SNP A A G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr7:100198322A>G ENST00000241071.6 + 10 1865 c.1543A>G c.(1543-1545)Atg>Gtg p.M515V FBXO24_ENST00000468962.1_Missense_Mutation_p.M503V|PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Missense_Mutation_p.M553V|FBXO24_ENST00000360609.2_3'UTR NM_033506.2 NP_277041.1 O75426 FBX24_HUMAN F-box protein 24 515 ubiquitin ligase complex ubiquitin-protein ligase activity NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2) 28 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) CCCCGGGGGGATGGCCCAGGC 0.662000 3 50 0 0 0.004672 0 0 KIAA0922 23240 broad.mit.edu 37 4 154525199 154525199 + Missense_Mutation SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr4:154525199G>A ENST00000409663.3 + 25 3084 c.3032G>A c.(3031-3033)aGc>aAc p.S1011N KIAA0922_ENST00000440693.1_Missense_Mutation_p.S928N|KIAA0922_ENST00000409959.3_Missense_Mutation_p.S1012N NM_015196.3 NP_056011.3 A2VDJ0 T131L_HUMAN KIAA0922 1011 integral to membrane breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 all_hematologic(180;0.093) Renal(120;0.118) CCCCTGGGCAGCTCACTGCCT 0.502000 13 67 0 0 0.016723 0 0 DSEL 92126 broad.mit.edu 37 18 65180850 65180850 + Silent SNP G G T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr18:65180850G>T ENST00000310045.7 - 2 2499 c.1026C>A c.(1024-1026)tcC>tcA p.S342S CTD-2541J13.2_ENST00000583493.1_RNA NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 332 integral to membrane isomerase activity|sulfotransferase activity NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) AATTATAATTGGAATCTGCTA 0.363000 13 56 4.3838e-07 4.88686e-07 0.016723 1 0 NEFH 4744 broad.mit.edu 37 22 29879403 29879403 + Missense_Mutation SNP C C T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr22:29879403C>T ENST00000310624.6 + 2 956 c.923C>T c.(922-924)aCa>aTa p.T308I NM_021076.3 NP_066554.2 P12036 NFH_HUMAN neurofilament, heavy polypeptide 308 Coil 2B.|Rod. cell death|nervous system development neurofilament cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3) 30 AAGGTGAACACAGACGCTATG 0.597000 56 271 0 0 0.014410 0 0 PTPN6 5777 broad.mit.edu 37 12 7065324 7065324 + Silent SNP C C T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr12:7065324C>T ENST00000456013.1 + 8 1106 c.864C>T c.(862-864)atC>atT p.I288I PTPN6_ENST00000399448.1_Silent_p.I290I|PTPN6_ENST00000318974.9_Silent_p.I288I|PTPN6_ENST00000447931.2_Silent_p.I249I NM_080549.3 NP_536859.1 P29350 PTN6_HUMAN protein tyrosine phosphatase, non-receptor type 6 288 Tyrosine-protein phosphatase. apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol|membrane|nucleus protein binding|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3) 18 GCCGAGTGATCCTGCAGGGAC 0.612000 14 34 0 0 0.020292 0 0 OR2M2 391194 broad.mit.edu 37 1 248344299 248344299 + Missense_Mutation SNP A A G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr1:248344299A>G ENST00000359682.2 + 1 1012 c.1012A>G c.(1012-1014)Aaa>Gaa p.K338E NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 338 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.K338E(1) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-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) CTATGATGTCAAAATACTAGC 0.289000 23 114 0 0 0.012319 0 0 FAM71B 153745 broad.mit.edu 37 5 156590665 156590665 + Missense_Mutation SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr5:156590665G>A ENST00000302938.4 - 2 706 c.611C>T c.(610-612)gCa>gTa p.A204V NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 204 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTGGAGCTCTGCAGCCTATAC 0.493000 18 53 0 0 0.007413 0 0 ECI2 10455 broad.mit.edu 37 6 4135788 4135788 + Missense_Mutation SNP T T C TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr6:4135788T>C ENST00000380118.3 - 1 43 c.7A>G c.(7-9)Atg>Gtg p.M3V RP3-400B16.4_ENST00000527831.1_RNA|ECI2_ENST00000413766.2_5'UTR|ECI2_ENST00000465828.1_5'UTR|ECI2_ENST00000361538.2_5'UTR O75521 ECI2_HUMAN enoyl-CoA delta isomerase 2 3 fatty acid metabolic process mitochondrion|peroxisomal matrix dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 11 AAGTACGCCATCGCCATCCCT 0.731000 19 59 0 0 0.010504 0 0 CDH11 1009 broad.mit.edu 37 16 64984856 64984856 + Silent SNP G G A rs142957030 TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr16:64984856G>A ENST00000394156.3 - 12 2161 c.1708C>T c.(1708-1710)Ctg>Ttg p.L570L CDH11_ENST00000268603.4_Silent_p.L570L|CDH11_ENST00000566827.1_Silent_p.L444L P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 570 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) ACTATGGGCAGAAGGTACAAG 0.612000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 15 33 0 0 0.024245 0 0 RPS6KC1 26750 broad.mit.edu 37 1 213436154 213436154 + Nonsense_Mutation SNP C C T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr1:213436154C>T ENST00000366960.3 + 14 3235 c.3085C>T c.(3085-3087)Caa>Taa p.Q1029* RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_3'UTR|RPS6KC1_ENST00000366959.3_Nonsense_Mutation_p.Q1017*|RPS6KC1_ENST00000543470.1_Nonsense_Mutation_p.Q817* NM_012424.3 NP_036556.2 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 1 1029 Protein kinase 2. cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3) 43 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) CTCACTCATTCAACAGGTAAT 0.418000 9 48 0 0 0.008291 0 0 SLC8A2 6543 broad.mit.edu 37 19 47941206 47941206 + Missense_Mutation SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr19:47941206G>A ENST00000236877.6 - 7 2305 c.1910C>T c.(1909-1911)gCc>gTc p.A637V SLC8A2_ENST00000542837.1_Missense_Mutation_p.A393V|SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000539381.1_Missense_Mutation_p.A100V NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 637 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CTCCTCCTCGGCTGTTAGCTT 0.567000 27 101 0 0 0.027356 0 0 FBXL4 26235 broad.mit.edu 37 6 99374830 99374830 + Missense_Mutation SNP G G C TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr6:99374830G>C ENST00000369244.2 - 4 463 c.35C>G c.(34-36)aCc>aGc p.T12S FBXL4_ENST00000229971.1_Missense_Mutation_p.T12S Q9UKA2 FBXL4_HUMAN F-box and leucine-rich repeat protein 4 12 ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2) 18 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0413) ATAAAACATGGTCAGAACTGT 0.433000 15 75 0 0 0.024245 0 0 PEX6 5190 broad.mit.edu 37 6 42934376 42934376 + Missense_Mutation SNP C C T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr6:42934376C>T ENST00000304611.8 - 10 2050 c.1981G>A c.(1981-1983)Gag>Aag p.E661K PEX6_ENST00000244546.4_Missense_Mutation_p.E661K NM_000287.3 NP_000278.3 Q13608 PEX6_HUMAN peroxisomal biogenesis factor 6 661 protein import into peroxisome matrix, translocation|protein stabilization cytosol|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3) 15 all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562) TCATCCTCCTCAGTCAAGCCA 0.597000 32 128 0 0 0.012213 0 0 ZFP57 346171 broad.mit.edu 37 6 29641487 29641487 + Missense_Mutation SNP T T C TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr6:29641487T>C ENST00000376883.1 - 6 752 c.341A>G c.(340-342)gAg>gGg p.E114G ZFP57_ENST00000376881.3_Missense_Mutation_p.E114G|ZFP57_ENST00000488757.1_Missense_Mutation_p.E134G Q9NU63 ZFP57_HUMAN ZFP57 zinc finger protein 78 N -> S (in dbSNP:rs9461544). DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5) 44 ACTAGTCCCCTCATCTCTCAG 0.512000 3 142 0 0 0.004672 0 0 TTN 7273 broad.mit.edu 37 2 179471858 179471858 + Missense_Mutation SNP A A G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr2:179471858A>G ENST00000589042.1 - 278 53695 c.53471T>C c.(53470-53472)aTc>aCc p.I17824T TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I8884T|TTN_ENST00000460472.2_Missense_Mutation_p.I8759T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I8951T|TTN_ENST00000342992.6_Missense_Mutation_p.I15256T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I16183T|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16183 Ig-like 104. 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) CAGACCTGTGATGTCACATTT 0.413000 24 130 0 0 0.021523 0 0 SIM1 6492 broad.mit.edu 37 6 100898154 100898154 + Missense_Mutation SNP C C T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr6:100898154C>T ENST00000369208.3 - 4 1119 c.337G>A c.(337-339)Ggt>Agt p.G113S SIM1_ENST00000262901.4_Missense_Mutation_p.G113S P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 113 PAS 1. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) TGAGAAAGACCCAAGTGGACT 0.562000 32 107 0 0 0.015359 0 0 PCDHA12 56137 broad.mit.edu 37 5 140256690 140256690 + Missense_Mutation SNP C C G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr5:140256690C>G ENST00000398631.2 + 1 1633 c.1633C>G c.(1633-1635)Ctg>Gtg p.L545V PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTGCCGCCTCTGGGCAGCAA 0.697000 36 79 0 0 0.015359 0 0 ZNF302 55900 broad.mit.edu 37 19 35175566 35175566 + Silent SNP A A G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr19:35175566A>G ENST00000505242.1 + 5 1118 c.624A>G c.(622-624)aaA>aaG p.K208K ZNF302_ENST00000457781.2_Silent_p.K208K|ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000423823.2_Silent_p.K208K|ZNF302_ENST00000446502.2_Silent_p.K252K Q9NR11 ZN302_HUMAN zinc finger protein 302 287 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(2)|lung(2)|skin(1) 6 all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) AATGTGGGAAAGCCTTTGGCA 0.438000 54 60 0 0 0.014410 0 0 SLC27A3 11000 broad.mit.edu 37 1 153749041 153749041 + Missense_Mutation SNP G G T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr1:153749041G>T ENST00000271857.2 + 2 1859 c.1099G>T c.(1099-1101)Ggg>Tgg p.G367W SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000368661.3_Missense_Mutation_p.G286W Q5K4L6 S27A3_HUMAN solute carrier family 27 (fatty acid transporter), member 3 286 fatty acid metabolic process integral to membrane|mitochondrial membrane ligase activity|nucleotide binding NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 14 all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GAGAGCCATGGGGCTCCACCT 0.627000 4 152 1.23904e-05 1.32685e-05 0.014758 1 0 CAND2 23066 broad.mit.edu 37 3 12858258 12858258 + Missense_Mutation SNP C C G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr3:12858258C>G ENST00000456430.2 + 10 1868 c.1827C>G c.(1825-1827)gaC>gaG p.D609E CAND2_ENST00000295989.5_Missense_Mutation_p.D516E NM_001162499.1 NP_001155971.1 O75155 CAND2_HUMAN cullin-associated and neddylation-dissociated 2 (putative) 609 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 TTGGGGATGACCTGGAGCCCA 0.647000 23 149 0 0 0.016522 0 0 AHNAK 79026 broad.mit.edu 37 11 62296954 62296954 + Missense_Mutation SNP C C A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr11:62296954C>A ENST00000378024.4 - 5 5209 c.4935G>T c.(4933-4935)gaG>gaT p.E1645D AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1645 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TGAAATGCATCTCAGGCATCT 0.468000 71 224 8.73484e-25 1.09994e-24 0.014410 1 0 RTN3 10313 broad.mit.edu 37 11 63488185 63488185 + Missense_Mutation SNP C C A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr11:63488185C>A ENST00000377819.5 + 3 2365 c.2211C>A c.(2209-2211)gaC>gaA p.D737E RTN3_ENST00000540798.1_Missense_Mutation_p.D625E|RTN3_ENST00000339997.4_Missense_Mutation_p.D718E|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron NM_001265589.1 NP_001252518.1 O95197 RTN3_HUMAN reticulon 3 737 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 20 CATCTCTTGACTTAGAACAAG 0.423000 17 26 5.3912e-06 5.86563e-06 0.006122 1 0 APP 351 broad.mit.edu 37 21 27394285 27394285 + Missense_Mutation SNP C C T rs147485129 TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr21:27394285C>T ENST00000358918.3 - 6 935 c.736G>A c.(736-738)Gag>Aag p.E246K APP_ENST00000440126.3_Missense_Mutation_p.E241K|APP_ENST00000359726.3_Missense_Mutation_p.E246K|APP_ENST00000474136.1_5'UTR|APP_ENST00000357903.3_Missense_Mutation_p.E246K|APP_ENST00000346798.3_Missense_Mutation_p.E246K|APP_ENST00000354192.3_Missense_Mutation_p.E190K|APP_ENST00000348990.5_Missense_Mutation_p.E246K|APP_ENST00000439274.2_Missense_Mutation_p.E190K|APP_ENST00000448388.2_Missense_Mutation_p.E211K NM_001204301.1|NM_001204302.1 NP_001191230.1|NP_001191231.1 P05067 A4_HUMAN amyloid beta (A4) precursor protein 246 Asp/Glu-rich (acidic). adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(209;0.00295) tcatcgtcctcgtcatcatcg 0.502000 9 35 0 0 0.004482 0 0 ASPM 259266 broad.mit.edu 37 1 197072273 197072273 + Silent SNP C C A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr1:197072273C>A ENST00000367409.4 - 18 6364 c.6108G>T c.(6106-6108)gtG>gtT p.V2036V ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 2036 IQ 14. mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 TTCTTTTTCTCACTTTCATAC 0.338000 54 59 6.14515e-18 7.46197e-18 0.014410 1 0 OLFM3 118427 broad.mit.edu 37 1 102271700 102271700 + Missense_Mutation SNP C C A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr1:102271700C>A ENST00000370103.4 - 5 844 c.631G>T c.(631-633)Gtc>Ttc p.V211F OLFM3_ENST00000338858.5_Missense_Mutation_p.V231F|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000462354.1_5'UTR NM_058170.2 NP_477518.2 Q96PB7 NOE3_HUMAN olfactomedin 3 231 extracellular region breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) GATGTCTTGACTGTAACTGGG 0.428000 10 31 2.68362e-12 3.14631e-12 0.013537 1 0 CAMTA1 23261 broad.mit.edu 37 1 7798137 7798137 + Silent SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr1:7798137G>A ENST00000303635.7 + 16 3984 c.3777G>A c.(3775-3777)aaG>aaA p.K1259K CAMTA1_ENST00000439411.2_Silent_p.K1259K NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 1259 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GGCAGGAGAAGCTGCTTCCCA 0.498000 T WWTR1 epitheliod hemangioendothelioma 9 41 0 0 0.004482 0 0 SDK1 221935 broad.mit.edu 37 7 4249658 4249658 + Splice_Site SNP C C T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr7:4249658C>T ENST00000404826.2 + 38 5542 c.5401_splice c.e38-1 p.A1801_splice SDK1_ENST00000389531.3_Splice_Site_p.A1781_splice NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1801 cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TTCTCCCAGCCCCTGGGGCCC 0.522000 4 118 0 0 0.021553 0 0 DMD 1756 broad.mit.edu 37 X 31854842 31854842 + Missense_Mutation SNP G G T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chrX:31854842G>T ENST00000357033.4 - 49 7399 c.7193C>A c.(7192-7194)cCa>cAa p.P2398Q DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.P2394Q|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000343523.2_5'UTR NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 2398 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TACCTTCACTGGCTGAGTGGC 0.423000 23 16 1.36565e-18 1.67322e-18 0.016522 1 0 SCAND3 114821 broad.mit.edu 37 6 28540656 28540656 + Nonsense_Mutation SNP C C A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr6:28540656C>A ENST00000452236.2 - 4 3627 c.3010G>T c.(3010-3012)Gaa>Taa p.E1004* NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 1004 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 gcaagactttctcgatgaatg 0.323000 16 34 3.51602e-12 4.08699e-12 0.008871 1 0 CMPK1 51727 broad.mit.edu 37 1 47834266 47834266 + Missense_Mutation SNP A A G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr1:47834266A>G ENST00000371873.5 + 2 446 c.297A>G c.(295-297)atA>atG p.I99M CMPK1_ENST00000450808.2_Intron NM_001136140.1|NM_016308.2 NP_001129612.1|NP_057392.1 P30085 KCY_HUMAN cytidine monophosphate (UMP-CMP) kinase 1, cytosolic 67 nucleobase, nucleoside and nucleotide interconversion cytosol|nucleus ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(2) 8 Gemcitabine(DB00441) CAGTTGAGATAACCATCAGTT 0.403000 8 24 0 0 0.003080 0 0 ACTRT2 140625 broad.mit.edu 37 1 2939160 2939160 + Missense_Mutation SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr1:2939160G>A ENST00000378404.2 + 1 1115 c.910G>A c.(910-912)Ggc>Agc p.G304S NM_080431.4 NP_536356.3 Q8TDY3 ACTT2_HUMAN actin-related protein T2 304 cytoplasm|cytoskeleton breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) GCTGTCGGGGGGCACTACCCT 0.612000 24 53 0 0 0.016522 0 0 KLHL1 57626 broad.mit.edu 37 13 70549922 70549922 + Silent SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr13:70549922G>A ENST00000377844.4 - 2 1269 c.510C>T c.(508-510)acC>acT p.T170T KLHL1_ENST00000545028.1_Intron NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 170 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) TTGAATGGCCGGTTGATGACA 0.378000 3 30 0 0 0.004672 0 0 TMEM39B 55116 broad.mit.edu 37 1 32566231 32566231 + Missense_Mutation SNP G G T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr1:32566231G>T ENST00000427288.1 + 9 1439 c.959G>T c.(958-960)tGt>tTt p.C320F TMEM39B_ENST00000373634.4_Intron|TMEM39B_ENST00000487305.1_Intron|TMEM39B_ENST00000336294.5_Intron Q9GZU3 TM39B_HUMAN transmembrane protein 39B 0 integral to membrane endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) GGGCAGGAATGTGATGTCATT 0.512000 20 10 8.81451e-21 1.09979e-20 0.008871 1 0 CNNM4 26504 broad.mit.edu 37 2 97427416 97427416 + Missense_Mutation SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr2:97427416G>A ENST00000377075.2 + 1 778 c.680G>A c.(679-681)cGc>cAc p.R227H NM_020184.3 NP_064569.3 Q6P4Q7 CNNM4_HUMAN cyclin M4 227 DUF21. biomineral tissue development|ion transport|response to stimulus|visual perception integral to membrane|plasma membrane breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 20 AAGGAGAGGCGCTATGCCCGC 0.592000 4 69 0 0 0.014758 0 0 FAM71B 153745 broad.mit.edu 37 5 156590666 156590666 + Missense_Mutation SNP C C A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr5:156590666C>A ENST00000302938.4 - 2 705 c.610G>T c.(610-612)Gca>Tca p.A204S NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 204 nucleus p.A204P(1) NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGGAGCTCTGCAGCCTATACC 0.488000 18 51 1.33834e-09 1.54249e-09 0.007413 1 0 CALHM1 255022 broad.mit.edu 37 10 105218230 105218230 + Silent SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr10:105218230G>A ENST00000329905.5 - 1 415 c.279C>T c.(277-279)ccC>ccT p.P93P RP11-225H22.4_ENST00000411906.1_RNA NM_001001412.3 NP_001001412.3 Q8IU99 CAHM1_HUMAN calcium homeostasis modulator 1 93 endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel activity|identical protein binding large_intestine(2)|liver(1)|lung(5)|ovary(1) 9 GCAACACAGCGGGGTCCTTGG 0.642000 17 26 0 0 0.028581 0 0 CLEC14A 161198 broad.mit.edu 37 14 38724915 38724915 + Silent SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr14:38724915G>A ENST00000342213.2 - 1 659 c.313C>T c.(313-315)Ctg>Ttg p.L105L NM_175060.2 NP_778230.1 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 105 C-type lectin. integral to membrane sugar binding breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) TCGTTCTCCAGGGTGCAGTGG 0.692000 3 8 0 0 0.004672 0 0 RP11-252A24.2 0 broad.mit.edu 37 16 74372351 74372351 + RNA SNP C C G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr16:74372351C>G ENST00000429810.2 - 0 1845 ACTGTTATCTCAAACTCTGTG 0.368000 13 55 0 0 0.016723 0 0 SDHAP1 255812 broad.mit.edu 37 3 195711466 195711466 + RNA SNP G G T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr3:195711466G>T ENST00000427841.1 - 0 481 NR_003264.2 GCCCATCACCGCGACCATGGC 0.582000 4 103 0.00024832 0.00026384 0.009096 1 0 CDC6 990 broad.mit.edu 37 17 38450241 38450241 + Silent SNP A A G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr17:38450241A>G ENST00000209728.4 + 6 1347 c.876A>G c.(874-876)aaA>aaG p.K292K NM_001254.3 NP_001245.1 Q99741 CDC6_HUMAN cell division cycle 6 292 cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle cytosol|nucleoplasm|spindle midzone|spindle pole ATP binding|kinase binding|nucleoside-triphosphatase activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 21 TGGACAGCAAAGGCCAGGATG 0.393000 24 79 0 0 0.018920 0 0 TTC37 9652 broad.mit.edu 37 5 94820469 94820469 + Missense_Mutation SNP C C G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr5:94820469C>G ENST00000358746.2 - 38 4310 c.4012G>C c.(4012-4014)Gac>Cac p.D1338H NM_014639.3 NP_055454.1 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 1338 binding breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 CTTCCTGTGTCTATTAGACCA 0.348000 18 25 0 0 0.006122 0 0 COPA 1314 broad.mit.edu 37 1 160262334 160262334 + Missense_Mutation SNP C C T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr1:160262334C>T ENST00000241704.7 - 28 3129 c.2900G>A c.(2899-2901)cGc>cAc p.R967H COPA_ENST00000368069.3_Missense_Mutation_p.R976H NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha 967 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity p.R976H(2)|p.R967H(2) central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ATAGGTTGTGCGGCCTCGGGC 0.502000 4 124 0 0 0.009096 0 0 MRPL39 54148 broad.mit.edu 37 21 26978860 26978860 + Missense_Mutation SNP G G C TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr21:26978860G>C ENST00000307301.7 - 2 222 c.181C>G c.(181-183)Cga>Gga p.R61G MRPL39_ENST00000352957.4_Missense_Mutation_p.R61G NM_080794.3 NP_542984.2 Q9NYK5 RM39_HUMAN mitochondrial ribosomal protein L39 61 mitochondrial ribosome nucleotide binding endometrium(2)|large_intestine(3)|lung(4)|ovary(1) 10 TTCTCAGTTCGGGGAGTTAAT 0.433000 10 40 0 0 0.006214 0 0 AXL 558 broad.mit.edu 37 19 41749592 41749592 + Missense_Mutation SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr19:41749592G>A ENST00000301178.4 + 12 1707 c.1517G>A c.(1516-1518)cGt>cAt p.R506H AXL_ENST00000593513.1_Missense_Mutation_p.R238H|AXL_ENST00000359092.3_Missense_Mutation_p.R497H NM_001278599.1|NM_021913.3 NP_001265528.1|NP_068713.2 P30530 UFO_HUMAN AXL receptor tyrosine kinase 506 integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 TCCTACAGTCGTCGGACCACT 0.562000 38 72 0 0 0.023175 0 0 MIR518B 574474 broad.mit.edu 37 19 54206072 54206072 + RNA SNP G G C TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr19:54206072G>C ENST00000385127.1 + 0 82 NR_030196.1 TTTACGGTTTGAGTAAAGCAG 0.463000 7 31 0 0 0.001984 0 0 RAI1 10743 broad.mit.edu 37 17 17697704 17697704 + Missense_Mutation SNP G G T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr17:17697704G>T ENST00000353383.1 + 3 1911 c.1442G>T c.(1441-1443)tGc>tTc p.C481F RAI1_ENST00000261641.6_Missense_Mutation_p.C481F NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 481 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) AGCCAGCACTGCAGCCCCGAA 0.652000 19 66 4.63292e-17 5.527e-17 0.008871 1 0 E2F7 144455 broad.mit.edu 37 12 77439832 77439832 + Missense_Mutation SNP G G T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr12:77439832G>T ENST00000322886.7 - 5 1050 c.815C>A c.(814-816)cCc>cAc p.P272H E2F7_ENST00000416496.2_Missense_Mutation_p.P272H NM_203394.2 NP_976328.2 Q96AV8 E2F7_HUMAN E2F transcription factor 7 272 cell cycle transcription factor complex DNA binding|identical protein binding central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2) 42 GGGACAGTCGGGTTCAGAGAA 0.433000 12 34 0.000978159 0.00101549 0.010729 1 0 GCNT1 2650 broad.mit.edu 37 9 79117750 79117750 + Silent SNP C C T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr9:79117750C>T ENST00000442371.1 + 3 1392 c.453C>T c.(451-453)tgC>tgT p.C151C GCNT1_ENST00000376730.4_Silent_p.C151C|GCNT1_ENST00000536223.1_Silent_p.C151C|GCNT1_ENST00000444201.2_Silent_p.C151C NM_001097634.1 NP_001091103.1 Q02742 GCNT1_HUMAN glucosaminyl (N-acetyl) transferase 1, core 2 151 Catalytic (By similarity). protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1) 30 ATTTCTATTGCATTCATGTGG 0.443000 22 35 0 0 0.010504 0 0 OR2H1 26716 broad.mit.edu 37 6 29429639 29429639 + Silent SNP T T A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr6:29429639T>A ENST00000377136.1 + 4 558 c.93T>A c.(91-93)acT>acA p.T31T OR2H1_ENST00000377132.1_Silent_p.T31T|OR2H1_ENST00000473369.1_Intron|OR2H1_ENST00000442615.1_Silent_p.T31T|OR2H1_ENST00000377133.1_Silent_p.T31T|OR2H1_ENST00000396792.2_Silent_p.T31T Q9GZK4 OR2H1_HUMAN olfactory receptor, family 2, subfamily H, member 1 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(12) 17 TTGTCTTCACTTCCTACCTCT 0.522000 4 166 0 0 0.009096 0 0 PABPC4 8761 broad.mit.edu 37 1 40034520 40034520 + Missense_Mutation SNP T T A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr1:40034520T>A ENST00000372857.3 - 6 1622 c.830A>T c.(829-831)aAa>aTa p.K277I RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372856.3_Missense_Mutation_p.K277I|PABPC4_ENST00000372858.3_Missense_Mutation_p.K277I|PABPC4_ENST00000372862.3_Missense_Mutation_p.K277I NM_003819.3 NP_003810.1 Q13310 PABP4_HUMAN poly(A) binding protein, cytoplasmic 4 (inducible form) 277 blood coagulation|RNA catabolic process|RNA processing|translation cytoplasm|ribonucleoprotein complex nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3) 21 Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) AAATTTCCGTTTTAACTCTGC 0.418000 28 64 0 0 0.008361 0 0 LOC645752 645752 broad.mit.edu 37 15 78211517 78211517 + RNA SNP C C G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr15:78211517C>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TTGCTCAGGACACTCAAGGCC 0.557000 3 173 0 0 0.004672 0 0 SLC4A7 9497 broad.mit.edu 37 3 27477926 27477926 + Missense_Mutation SNP C C A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr3:27477926C>A ENST00000295736.5 - 5 585 c.515G>T c.(514-516)gGa>gTa p.G172V SLC4A7_ENST00000435667.2_Missense_Mutation_p.G181V|SLC4A7_ENST00000454389.1_Missense_Mutation_p.G181V|SLC4A7_ENST00000440156.1_Missense_Mutation_p.G181V|SLC4A7_ENST00000425128.2_Missense_Mutation_p.G177V|SLC4A7_ENST00000428386.1_Missense_Mutation_p.G172V|SLC4A7_ENST00000445684.1_Missense_Mutation_p.G181V|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000446700.1_Missense_Mutation_p.G177V|SLC4A7_ENST00000455077.1_Missense_Mutation_p.G177V|SLC4A7_ENST00000437179.1_Missense_Mutation_p.G177V NM_003615.4 NP_003606.3 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 7 172 apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1) 38 CATGACTGTTCCATTGAGGAT 0.398000 11 30 4.68919e-08 5.27049e-08 0.008291 1 0 ABCC10 89845 broad.mit.edu 37 6 43403844 43403844 + Silent SNP A A G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr6:43403844A>G ENST00000244533.3 + 4 2009 c.1650A>G c.(1648-1650)ttA>ttG p.L550L ABCC10_ENST00000372530.4_Intron NM_033450.2 NP_258261.2 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 589 ABC transmembrane type-1 1. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) GTGGTAGATTAGGAGCCCAAA 0.488000 3 151 0 0 0.009096 0 0 CDKN2A 1029 broad.mit.edu 37 9 21974678 21974678 + Splice_Site SNP T T C TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr9:21974678T>C ENST00000304494.5 - 1 419 c.150_splice c.e1+1 p.Q50_splice RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498124.1_Splice_Site_p.Q50_splice|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579122.1_Splice_Site_p.Q50_splice|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000446177.1_Splice_Site_p.Q50_splice NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 50 Q -> R (in CMM2). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(25)|p.Q50R(1)|p.0(1)|p.V28_V51del(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TCTACCCACCTGGATCGGCCT 0.682000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 94 81 0 0 0.014410 0 0 LRP11 84918 broad.mit.edu 37 6 150174158 150174158 + Missense_Mutation SNP T T C TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr6:150174158T>C ENST00000239367.2 - 2 757 c.752A>G c.(751-753)gAc>gGc p.D251G LRP11_ENST00000546019.1_5'UTR|LRP11_ENST00000367368.2_Missense_Mutation_p.D251G NM_032832.5 NP_116221.3 Q86VZ4 LRP11_HUMAN low density lipoprotein receptor-related protein 11 251 PKD. integral to membrane receptor activity cervix(1)|kidney(5)|large_intestine(1)|lung(1) 8 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225) CACTGACGGGTCCCCCTGCAG 0.542000 4 54 0 0 0.014758 0 0 SLC12A8 84561 broad.mit.edu 37 3 124906105 124906105 + Silent SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr3:124906105G>A ENST00000423114.2 - 4 452 c.453C>T c.(451-453)atC>atT p.I151I SLC12A8_ENST00000393469.4_Silent_p.I122I|SLC12A8_ENST00000469902.1_Silent_p.I122I|SLC12A8_ENST00000314584.7_5'UTR A0AV02 S12A8_HUMAN solute carrier family 12, member 8 122 potassium ion transport integral to membrane symporter activity endometrium(2)|kidney(2)|lung(12) 16 AGAGCAGCCCGATGGTGCCTC 0.627000 14 72 0 0 0.020292 0 0 LOC645752 645752 broad.mit.edu 37 15 78212618 78212618 + RNA SNP A A G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr15:78212618A>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TGTAACCGCCACTGGAGGACC 0.562000 3 44 0 0 0.004672 0 0 FLRT2 23768 broad.mit.edu 37 14 86088851 86088851 + Silent SNP T T C TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr14:86088851T>C ENST00000330753.4 + 2 1760 c.993T>C c.(991-993)tcT>tcC p.S331S FLRT2_ENST00000554746.1_Silent_p.S331S NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 331 LRRCT. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) TCCCTTCATCTCTCAACGTGC 0.488000 38 216 0 0 0.017118 0 0 LCLAT1 253558 broad.mit.edu 37 2 30863047 30863047 + Missense_Mutation SNP G G C TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr2:30863047G>C ENST00000309052.4 + 7 1016 c.807G>C c.(805-807)gaG>gaC p.E269D LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000540623.1_Missense_Mutation_p.E231D|LCLAT1_ENST00000379509.3_Missense_Mutation_p.E231D NM_182551.3 NP_872357.2 Q6UWP7 LCLT1_HUMAN lysocardiolipin acyltransferase 1 269 multicellular organismal development|phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2) 19 CTCAATCAGAGAAGCACCTCC 0.473000 51 63 0 0 0.014410 0 0 NDUFA3 4696 broad.mit.edu 37 19 54611775 54611775 + Silent SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr19:54611775G>A ENST00000391764.3 + 4 202 c.192G>A c.(190-192)gaG>gaA p.E64E TFPT_ENST00000391757.1_Intron|TFPT_ENST00000391758.1_Intron|TFPT_ENST00000391759.1_Intron O95167 NDUA3_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa 65 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(1) 2 all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19) NADH(DB00157) ACAGGATAGAGCTCAGCTCCC 0.592000 6 34 0 0 0.001984 0 0 VWA3B 200403 broad.mit.edu 37 2 98852910 98852910 + Missense_Mutation SNP C C T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr2:98852910C>T ENST00000477737.1 + 18 2690 c.2486C>T c.(2485-2487)aCg>aTg p.T829M NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 829 p.T829M(1) NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GAAAAGGTGACGCGAGAAGGA 0.423000 22 45 0 0 0.010504 0 0 PLD1 5337 broad.mit.edu 37 3 171394572 171394572 + Missense_Mutation SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr3:171394572G>A ENST00000356327.5 - 17 2004 c.1934C>T c.(1933-1935)tCt>tTt p.S645F PLD1_ENST00000351298.4_Missense_Mutation_p.S683F|PLD1_ENST00000340989.4_Missense_Mutation_p.S683F|PLD1_ENST00000342215.6_Silent_p.L574L NM_001130081.2 NP_001123553.1 Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific 683 Catalytic. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity p.S683F(1) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) GTGGACTGCAGAGGCAATGTC 0.532000 8 81 0 0 0.004482 0 0 SSTR3 6753 broad.mit.edu 37 22 37603361 37603361 + Missense_Mutation SNP C C T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr22:37603361C>T ENST00000328544.3 - 2 1015 c.482G>A c.(481-483)cGc>cAc p.R161H SSTR3_ENST00000402501.1_Missense_Mutation_p.R161H NM_001051.3 NP_001042.1 P32745 SSR3_HUMAN somatostatin receptor 3 161 G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation integral to plasma membrane|nonmotile primary cilium somatostatin receptor activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 14 GCTGACCGTGCGGGCCACCGG 0.682000 53 59 0 0 0.014410 0 0 UGT2B4 7363 broad.mit.edu 37 4 70360857 70360857 + Splice_Site SNP A A G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr4:70360857A>G ENST00000305107.6 - 1 768 c.e1+1 UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000512583.1_Splice_Site|UGT2B4_ENST00000381096.3_Splice_Site NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 AAAGTTACTTACCTAGAACTT 0.333000 8 17 0 0 0.003080 0 0 EGFR 1956 broad.mit.edu 37 7 55210023 55210023 + Missense_Mutation SNP G G C TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr7:55210023G>C ENST00000275493.2 + 2 310 c.133G>C c.(133-135)Gaa>Caa p.E45Q EGFR_ENST00000454757.2_5'UTR|EGFR_ENST00000342916.3_Missense_Mutation_p.E45Q|EGFR_ENST00000442591.1_Missense_Mutation_p.E45Q|EGFR_ENST00000420316.2_Missense_Mutation_p.E45Q|EGFR_ENST00000344576.2_Missense_Mutation_p.E45Q|EGFR_ENST00000455089.1_Missense_Mutation_p.E45Q NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 45 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GGGCACTTTTGAAGATCATTT 0.398000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 5 350 0 0 0.014758 0 0 ZNF185 7739 broad.mit.edu 37 X 152113985 152113985 + Silent SNP C C T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chrX:152113985C>T ENST00000535861.1 + 17 1527 c.1479C>T c.(1477-1479)gtC>gtT p.V493V ZNF185_ENST00000370270.1_Silent_p.V224V|ZNF185_ENST00000539731.1_Silent_p.V464V|ZNF185_ENST00000370268.4_Silent_p.V461V|ZNF185_ENST00000324823.6_Silent_p.V229V|ZNF185_ENST00000449285.2_Silent_p.V462V|ZNF185_ENST00000318504.7_Silent_p.V402V|ZNF185_ENST00000318529.8_Silent_p.V240V NM_001178106.1 NP_001171577.1 O15231 ZN185_HUMAN zinc finger protein 185 (LIM domain) 461 cytoplasm|cytoskeleton|focal adhesion zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3) 12 Acute lymphoblastic leukemia(192;6.56e-05) AGCAACTTGTCAGACGAGAGA 0.607000 6 3 0 0 0.021553 0 0 PEAK1 79834 broad.mit.edu 37 15 77474216 77474216 + Missense_Mutation SNP T T C TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr15:77474216T>C ENST00000560626.2 - 4 528 c.53A>G c.(52-54)aAg>aGg p.K18R PEAK1_ENST00000312493.4_Missense_Mutation_p.K18R|PEAK1_ENST00000558305.1_Missense_Mutation_p.K18R Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 18 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding AAAGCAATTCTTGCATTCACC 0.408000 23 43 0 0 0.012319 0 0 XRN2 22803 broad.mit.edu 37 20 21312236 21312236 + Missense_Mutation SNP A A G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr20:21312236A>G ENST00000377191.3 + 7 709 c.614A>G c.(613-615)gAa>gGa p.E205G XRN2_ENST00000430571.2_Missense_Mutation_p.E129G|XRN2_ENST00000539513.1_Missense_Mutation_p.E151G NM_012255.3 NP_036387.2 Q9H0D6 XRN2_HUMAN 5'-3' exoribonuclease 2 205 cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5) 39 GGTGAAGGAGAACATAAAATC 0.289000 16 36 0 0 0.004990 0 0 VENTX 27287 broad.mit.edu 37 10 135053283 135053283 + Nonsense_Mutation SNP C C G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr10:135053283C>G ENST00000325980.9 + 2 856 c.345C>G c.(343-345)taC>taG p.Y115* NM_014468.2 NP_055283.1 O95231 VENTX_HUMAN VENT homeobox 115 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1) 14 all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05) ACCACCAGTACCTGAGCCCTC 0.662000 27 33 0 0 0.006320 0 0 PCGF5 84333 broad.mit.edu 37 10 93038049 93038049 + Nonsense_Mutation SNP T T G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr10:93038049T>G ENST00000336126.5 + 10 979 c.747T>G c.(745-747)taT>taG p.Y249* PCGF5_ENST00000543648.1_Nonsense_Mutation_p.Y249* NM_001257101.1|NM_032373.4 NP_001244030.1|NP_115749.2 Q86SE9 PCGF5_HUMAN polycomb group ring finger 5 249 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|PcG protein complex zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6) 12 TACTGCAGTATCGACCAAGAA 0.358000 4 24 0 0 0.009096 0 0 C16orf71 146562 broad.mit.edu 37 16 4793097 4793097 + Missense_Mutation SNP A A C TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr16:4793097A>C ENST00000299320.5 + 5 1315 c.837A>C c.(835-837)gaA>gaC p.E279D C16orf71_ENST00000590191.1_Missense_Mutation_p.E293D|RP11-127I20.7_ENST00000588099.1_RNA NM_139170.2 NP_631909.2 Q8IYS4 CP071_HUMAN chromosome 16 open reading frame 71 279 breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1) 11 CGGGACAAGAAGACAACCAGG 0.527000 28 52 0 0 0.006320 0 0 HLA-F 3134 broad.mit.edu 37 6 29692932 29692932 + Missense_Mutation SNP G G C TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr6:29692932G>C ENST00000440587.2 + 4 740 c.381G>C c.(379-381)caG>caC p.Q127H HLA-F_ENST00000259951.7_Missense_Mutation_p.Q245H|HLA-F_ENST00000334668.4_Missense_Mutation_p.Q245H|HLA-F_ENST00000434407.2_Intron|HLA-F_ENST00000376861.1_Missense_Mutation_p.Q245H P30511 HLAF_HUMAN major histocompatibility complex, class I, F 245 Alpha-2. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 GGGAGGAACAGACCCAGGACA 0.627000 14 44 0 0 0.020292 0 0 KYNU 8942 broad.mit.edu 37 2 143712382 143712382 + Missense_Mutation SNP C C G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr2:143712382C>G ENST00000264170.4 + 5 635 c.377C>G c.(376-378)gCc>gGc p.A126G KYNU_ENST00000409512.1_Missense_Mutation_p.A126G|KYNU_ENST00000375773.2_Missense_Mutation_p.A126G NM_003937.2 NP_003928.1 Q16719 KYNU_HUMAN kynureninase 126 anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4) 36 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) TTTACAGGAGCCAATGAGAAA 0.299000 3 28 0 0 0.004672 0 0 ANKS3 124401 broad.mit.edu 37 16 4774826 4774826 + Silent SNP C C T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr16:4774826C>T ENST00000304283.4 - 6 792 c.498G>A c.(496-498)ccG>ccA p.P166P ANKS3_ENST00000450067.2_Intron|ANKS3_ENST00000585773.1_Silent_p.P93P|ANKS3_ENST00000592711.1_Silent_p.P59P|ANKS3_ENST00000446014.2_Silent_p.P37P NM_133450.3 NP_597707.1 Q6ZW76 ANKS3_HUMAN ankyrin repeat and sterile alpha motif domain containing 3 166 endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 19 ATCCACATATCGGCTCCCTGC 0.488000 6 16 0 0 0.001984 0 0 PAQR8 85315 broad.mit.edu 37 6 52268767 52268767 + Silent SNP C C A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr6:52268767C>A ENST00000442253.2 + 2 930 c.756C>A c.(754-756)atC>atA p.I252I PAQR8_ENST00000360726.3_Silent_p.I252I NM_133367.4 NP_588608.1 Q8TEZ7 MPRB_HUMAN progestin and adipoQ receptor family member VIII 252 cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2) 17 Lung NSC(77;0.0875) CCCTCCAGATCCTCTTCTTCC 0.577000 17 50 2.23348e-06 2.44963e-06 0.028581 1 0 LYST 1130 broad.mit.edu 37 1 235952058 235952058 + Missense_Mutation SNP G G T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr1:235952058G>T ENST00000389794.3 - 13 4805 c.4631C>A c.(4630-4632)tCc>tAc p.S1544Y LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.S1544Y Q99698 LYST_HUMAN lysosomal trafficking regulator 1544 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) CAACGCTTTGGATCCCAGTGA 0.403000 9 29 1.12685e-05 1.21628e-05 0.004482 1 0 CSTF2 1478 broad.mit.edu 37 X 100078983 100078983 + Missense_Mutation SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chrX:100078983G>A ENST00000415585.2 + 5 575 c.553G>A c.(553-555)Gaa>Aaa p.E185K CSTF2_ENST00000372972.2_Missense_Mutation_p.E185K|CSTF2_ENST00000486615.1_Intron P33240 CSTF2_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa 185 Interactions with CSTF3 and SYMPK. mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cleavage body|mRNA cleavage and polyadenylation specificity factor complex nucleotide binding|protein binding|RNA binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1) 13 TGTGGATCCGGAAATTGCCCT 0.468000 23 45 0 0 0.014323 0 0 SLC35B4 84912 broad.mit.edu 37 7 133979789 133979789 + Silent SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr7:133979789G>A ENST00000378509.4 - 10 1091 c.792C>T c.(790-792)tgC>tgT p.C264C SLC35B4_ENST00000466599.1_Intron NM_032826.4 NP_116215.1 Q969S0 S35B4_HUMAN solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4 264 Golgi membrane|integral to membrane UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity large_intestine(1)|lung(2)|skin(1)|stomach(1) 5 TGAGGGAGGCGCATTCTGTGG 0.537000 7 377 0 0 0.001984 0 0 SACS 26278 broad.mit.edu 37 13 23942586 23942586 + Silent SNP G G C TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr13:23942586G>C ENST00000382298.3 - 5 888 c.300C>G c.(298-300)ctC>ctG p.L100L SACS_ENST00000382292.3_Silent_p.L100L|SACS_ENST00000402364.1_5'UTR NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 100 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AAATGTCCTTGAGAAAATCAA 0.373000 5 13 0 0 0.014758 0 0 ADHFE1 137872 broad.mit.edu 37 8 67372555 67372555 + Missense_Mutation SNP G G A rs144952353 TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr8:67372555G>A ENST00000396623.3 + 13 1206 c.1175G>A c.(1174-1176)cGc>cAc p.R392H ADHFE1_ENST00000415254.1_Missense_Mutation_p.R344H|C8orf46_ENST00000482608.2_3'UTR|ADHFE1_ENST00000496501.1_3'UTR NM_144650.2 NP_653251.2 Q8IWW8 HOT_HUMAN alcohol dehydrogenase, iron containing, 1 392 2-oxoglutarate metabolic process|molecular hydrogen transport mitochondrial matrix hydroxyacid-oxoacid transhydrogenase activity|metal ion binding p.R344H(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 29 Lung NSC(129;0.197) Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226) GCCGACACCCGCACTGCCAGG 0.517000 OREG0018808 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 155 0 0 0.009096 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 5 58 0 0 0.021553 0 0 FUBP1 8880 broad.mit.edu 37 1 78430374 78430374 + Missense_Mutation SNP C C T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr1:78430374C>T ENST00000370767.1 - 10 881 c.794G>A c.(793-795)cGg>cAg p.R265Q FUBP1_ENST00000370768.2_Missense_Mutation_p.R265Q|FUBP1_ENST00000436586.2_Missense_Mutation_p.R286Q Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 265 transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 ATACTCATTCCGAACTTCTCT 0.353000 """F, N""" oligodendroglioma 17 57 0 0 0.004990 0 0 TBCK 93627 broad.mit.edu 37 4 107016738 107016738 + Silent SNP T T G TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr4:107016738T>G ENST00000273980.4 - 26 2919 c.2472A>C c.(2470-2472)gcA>gcC p.A824A TBCK_ENST00000432496.2_Silent_p.A824A|TBCK_ENST00000361687.4_Silent_p.A761A|TBCK_ENST00000394708.2_Silent_p.A824A|TBCK_ENST00000394706.3_Silent_p.A785A Q8TEA7 TBCK_HUMAN TBC1 domain containing kinase 824 Rhodanese. intracellular Rab GTPase activator activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 25 GCTCCCCTTCTGCAGTGAAGG 0.468000 11 45 0 0 0.016723 0 0 EXT1 2131 broad.mit.edu 37 8 118847731 118847731 + Silent SNP A A T TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr8:118847731A>T ENST00000378204.2 - 3 1922 c.1116T>A c.(1114-1116)atT>atA p.I372I NM_000127.2 NP_000118.2 Q16394 EXT1_HUMAN exostosin glycosyltransferase 1 372 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development Golgi membrane|integral to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2) 38 all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.012) GGTTCCAATTAATCACTTCAG 0.507000 """Mis, N, F, S""" """exostoses, osteosarcoma""" Langer-Giedion syndrome;Hereditary Multiple Exostoses 4 94 0 0 0.014758 0 0 IDE 3416 broad.mit.edu 37 10 94294475 94294475 + Silent SNP T T C TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr10:94294475T>C ENST00000265986.6 - 3 407 c.351A>G c.(349-351)ggA>ggG p.G117G NM_004969.3 NP_004960.2 P14735 IDE_HUMAN insulin-degrading enzyme 117 beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2) 33 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ATTTCTTTGTTCCCAAAAAAA 0.348000 28 36 0 0 0.006320 0 0 ATP8B2 57198 broad.mit.edu 37 1 154303375 154303378 + Frame_Shift_Del DEL ACTT ACTT - TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr1:154303375_154303378delACTT ENST00000368489.3 + 4 274_277 c.274_277delACTT c.(274-279)acfs p.TY92fs ATP8B2_ENST00000368487.3_Frame_Shift_Del_p.TY59fs|ATP8B2_ENST00000341822.2_Frame_Shift_Del_p.TY78fs|ATP8B2_ENST00000426445.1_3'UTR NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 78 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) AGTTGCCAACACTTACTTCCTGTT 0.461 7 49 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187628726 187628732 + Frame_Shift_Del DEL CAGTTTT CAGTTTT - TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr4:187628726_187628732delCAGTTTT ENST00000441802.2 - 2 2459_2465 c.2250_2256delAAAACTG c.(2248-2256)ggfs p.GKL750fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 750 Cadherin 6. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CAGCATAGACCAGTTTTCCATTGAAGC 0.425 HNSCC(5;0.00058) 58 32 --- --- --- --- RP11-941H19.3 0 broad.mit.edu 37 8 81213768 81213768 + RNA DEL C C - TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr8:81213768delC ENST00000522044.1 + 0 404 TTTTGGGACGCCCCCCCTCAC 0.542 13 11 --- --- --- --- ZIC2 7546 broad.mit.edu 37 13 100634394 100634396 + In_Frame_Del DEL GCG GCG - TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr13:100634394_100634396delGCG ENST00000376335.3 + 1 369_371 c.76_78delGCG c.(76-78)del p.A33del NM_007129.3 NP_009060.2 O95409 ZIC2_HUMAN Zic family member 2 33 Poly-Ala. brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CCACTccgccgcggcggcggcgg 0.759 2 4 --- --- --- --- ARHGAP5 394 broad.mit.edu 37 14 32560503 32560516 + Frame_Shift_Del DEL AGAGAAGTTCAGGC AGAGAAGTTCAGGC - TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr14:32560503_32560516delAGAGAAGTTCAGGC ENST00000345122.3 + 2 943_956 c.628_641delAGAGAAGTTCAGGC c.(628-642)afs p.REVQA210fs ARHGAP5_ENST00000556611.1_Frame_Shift_Del_p.REVQA210fs|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Frame_Shift_Del_p.REVQA210fs|ARHGAP5_ENST00000432921.1_Frame_Shift_Del_p.REVQA210fs NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 210 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) TCATTATCTTAGAGAAGTTCAGGCATTTGCTTCA 0.322 9 58 --- --- --- --- TMEM121 80757 broad.mit.edu 37 14 105996050 105996052 + In_Frame_Del DEL GCC GCC - rs5811180 TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr14:105996050_105996052delGCC ENST00000392519.2 + 2 1043_1045 c.879_881delGCC c.(877-882)gtg>gt p.VP293del TMEM121_ENST00000431372.1_In_Frame_Del_p.VP293del NM_025268.2 NP_079544.1 Q9BTD3 TM121_HUMAN transmembrane protein 121 293 Pro-rich. integral to membrane endometrium(2)|lung(1) 3 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188) Epithelial(152;0.0959)|all cancers(159;0.235) GCAACTCGGTgccgccgccgccg 0.768 4 3 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578180 7578181 + Frame_Shift_Ins INS - - T rs138983188 TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr17:7578180_7578181insT ENST00000420246.2 - 6 800_801 c.668_669insA c.(667-669)cgafs p.R223fs TP53_ENST00000455263.2_Frame_Shift_Ins_p.R223fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.R223fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.R223fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.R223fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.R223fs|TP53_ENST00000574684.1_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 223 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. P -> A (in a sporadic cancer; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> S (in a sporadic cancer; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.?(12)|p.0?(8)|p.P223P(4)|p.P223L(4)|p.P223H(2)|p.Y220_P223delYEPP(1)|p.E224fs*4(1)|p.E224fs*5(1)|p.V218_E224delVPYEPPE(1)|p.P223R(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ACCAGACCTCAGGCGGCTCATA 0.540 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 8 20 --- --- --- --- ANKRD20A5P 440482 broad.mit.edu 37 18 14183628 14183628 + RNA DEL A A - TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr18:14183628delA ENST00000581935.1 + 0 501 lung(3) 3 ACAGTTTCCTAAAAAGTCCTG 0.378 19 114 --- --- --- --- CYP2D7 1564 broad.mit.edu 37 22 42537119 42537120 + RNA INS - - A rs142656198 by1000genomes TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chr22:42537119_42537120insA ENST00000435101.1 - 0 296 CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000433992.1_RNA endometrium(1) 1 GGGCTACCACCGGGGCTGATGC 0.614 4 6 --- --- --- --- SRPX 8406 broad.mit.edu 37 X 38079976 38079978 + In_Frame_Del DEL GCA GCA - rs72445954 TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e8ffdfc-48f5-41e0-9192-d761f3b518ef da077b22-a2b5-4b29-bb44-692e5eb09f28 g.chrX:38079976_38079978delGCA ENST00000378533.3 - 1 174_176 c.68_70delTGC c.(67-72)cgc>c p.LR23del SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del|SRPX_ENST00000343800.6_Intron|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del|SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del NM_006307.4 NP_006298.1 P78539 SRPX_HUMAN sushi-repeat containing protein, X-linked 23 Missing. cell adhesion cell surface|membrane p.L23delL(2) autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2) 25 GGCGGGACGCgcagcagcagcag 0.729 OREG0019726 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 6 --- --- --- ---