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 FTSJ3 117246 broad.mit.edu 37 17 61897259 61897259 + Missense_Mutation SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr17:61897259C>G ENST00000427159.2 - 21 3092 c.2447G>C c.(2446-2448)gGa>gCa p.G816A NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 816 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 ACCTCTGACTCCAGCTGGCCG 0.498000 88 79 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45799047 45799047 + Silent SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr21:45799047C>T ENST00000397928.1 + 8 1627 c.1182C>T c.(1180-1182)ttC>ttT p.F394F TRPM2_ENST00000300482.5_Silent_p.F394F|TRPM2_ENST00000397932.2_Silent_p.F394F|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.F394F NM_003307.3 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 394 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 TTGAGACCTTCACGGAAAGCA 0.557000 26 44 0 0 1 0 0 OBP2A 29991 broad.mit.edu 37 9 138438707 138438707 + Silent SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr9:138438707G>A ENST00000539850.1 + 2 182 c.156G>A c.(154-156)gtG>gtA p.V52V OBP2A_ENST00000371776.1_Silent_p.V52V|OBP2A_ENST00000340780.3_Silent_p.V52V|OBP2A_ENST00000342114.4_Intron Q9NY56 OBP2A_HUMAN odorant binding protein 2A 52 response to stimulus|sensory perception of smell extracellular region odorant binding|transporter activity endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05) TGTCCCCAGTGAAGGTGACAG 0.627000 22 20 0 0 1 0 0 ZNF383 163087 broad.mit.edu 37 19 37733679 37733679 + Nonsense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr19:37733679C>T ENST00000589413.1 + 8 1124 c.541C>T c.(541-543)Cag>Tag p.Q181* ZNF383_ENST00000590503.1_Nonsense_Mutation_p.Q181*|ZNF383_ENST00000352998.3_Nonsense_Mutation_p.Q181* Q8NA42 ZN383_HUMAN zinc finger protein 383 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1) 15 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGCCTTTAGTCAGAACTCACA 0.333000 23 21 0 0 1 0 0 ST8SIA5 29906 broad.mit.edu 37 18 44260143 44260143 + Silent SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr18:44260143G>C ENST00000315087.7 - 7 1653 c.993C>G c.(991-993)ctC>ctG p.L331L ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Silent_p.L300L|ST8SIA5_ENST00000538168.1_Silent_p.L367L NM_013305.4 NP_037437.2 O15466 SIA8E_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 331 glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 22 GAGTGATGTAGAGGCCCGAGG 0.602000 32 60 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971114 21971114 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr9:21971114C>T ENST00000579755.1 - 2 579 c.287G>A c.(286-288)cGt>cAt p.R96H CDKN2A_ENST00000579122.1_Missense_Mutation_p.V82M|CDKN2A_ENST00000498124.1_Missense_Mutation_p.V82M|CDKN2A_ENST00000304494.5_Missense_Mutation_p.V82M|CDKN2A_ENST00000494262.1_Missense_Mutation_p.V31M|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R137H|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Missense_Mutation_p.V31M|CDKN2A_ENST00000578845.2_Missense_Mutation_p.V31M|CDKN2A_ENST00000497750.1_Missense_Mutation_p.V31M|CDKN2A_ENST00000530628.2_Missense_Mutation_p.R96H|CDKN2A_ENST00000498628.2_Missense_Mutation_p.V31M|CDKN2A_ENST00000446177.1_Missense_Mutation_p.V82M P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 0 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.V82M(2)|p.V82fs*62(1)|p.0(1)|p.T79fs*37(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)|p.V82L(1)|p.P81fs*38(1)|p.V82fs*44(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) GCGTCGTGCACGGGTCGGGTG 0.741000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 9 9 0 0 1 0 0 POTEE 445582 broad.mit.edu 37 2 132021595 132021595 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr2:132021595G>A ENST00000356920.5 + 15 2661 c.2567G>A c.(2566-2568)gGt>gAt p.G856D PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 856 Actin-like. ATP binding ATGGACTCTGGTGACGGGGTC 0.617000 29 61 0 0 1 0 0 CC2D1A 54862 broad.mit.edu 37 19 14024046 14024046 + Missense_Mutation SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr19:14024046G>C ENST00000318003.7 + 5 685 c.444G>C c.(442-444)caG>caC p.Q148H CC2D1A_ENST00000589606.1_Missense_Mutation_p.Q148H NM_017721.4 NP_060191.3 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 148 positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 27 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) CGCTCTATCAGACAGCAATTG 0.632000 10 8 0 0 1 0 0 FGG 2266 broad.mit.edu 37 4 155529686 155529686 + Missense_Mutation SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr4:155529686C>G ENST00000404648.3 - 7 1022 c.783G>C c.(781-783)ttG>ttC p.L261F FGG_ENST00000405164.1_Missense_Mutation_p.L269F|FGG_ENST00000336098.3_Missense_Mutation_p.L261F|FGG_ENST00000407946.1_Missense_Mutation_p.L269F NM_000509.4 NP_000500.2 P02679 FIBG_HUMAN fibrinogen gamma chain 261 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding p.L261L(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) GTGTGCTTATCAAATGAATCT 0.383000 31 9 0 0 1 0 0 NBPF9 400818 broad.mit.edu 37 1 144828657 144828657 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr1:144828657G>A ENST00000338347.4 + 14 1703 c.1703G>A c.(1702-1704)aGa>aAa p.R568K NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000281815.8_Missense_Mutation_p.R166K neuroblastoma breakpoint family, member 9 NS(2)|prostate(1) 3 CAGCACTACAGAAGTGTGTTT 0.448000 7 196 0 0 1 0 0 ENTPD8 377841 broad.mit.edu 37 9 140329478 140329478 + Missense_Mutation SNP T T A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr9:140329478T>A ENST00000371506.2 - 10 1559 c.1376A>T c.(1375-1377)cAg>cTg p.Q459L ENTPD8_ENST00000472938.1_Missense_Mutation_p.Q459L|ENTPD8_ENST00000344119.2_Missense_Mutation_p.Q422L NM_001033113.1 NP_001028285.1 Q5MY95 ENTP8_HUMAN ectonucleoside triphosphate diphosphohydrolase 8 459 integral to membrane|plasma membrane ATP binding biliary_tract(1)|lung(4)|prostate(1)|skin(1) 7 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898) TGCCCGCCACTGAGCCGGCGC 0.672000 9 14 0 0 1 0 0 POC1A 25886 broad.mit.edu 37 3 52109918 52109918 + Silent SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr3:52109918C>T ENST00000394970.2 - 10 1382 c.1065G>A c.(1063-1065)caG>caA p.Q355Q POC1A_ENST00000296484.2_Silent_p.Q403Q|POC1A_ENST00000474012.1_Silent_p.Q365Q NM_001161580.1 NP_001155052.1 Q8NBT0 POC1A_HUMAN POC1 centriolar protein A 403 centriole|microtubule basal body endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1) 14 GTGTTGCTCTCTGCATGATTA 0.512000 91 54 0 0 1 0 0 GPR160 26996 broad.mit.edu 37 3 169802467 169802467 + Missense_Mutation SNP C C A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr3:169802467C>A ENST00000355897.5 + 4 1315 c.707C>A c.(706-708)tCt>tAt p.S236Y NM_014373.2 NP_055188.1 Q9UJ42 GP160_HUMAN G protein-coupled receptor 160 236 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2) 8 all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) ACTGTGAGATCTAAAAAAATA 0.323000 46 31 1.8453e-21 1.99673e-21 1 1 0 SYNE1 23345 broad.mit.edu 37 6 152749478 152749478 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr6:152749478G>A ENST00000367255.5 - 37 5439 c.4838C>T c.(4837-4839)tCa>tTa p.S1613L SYNE1_ENST00000423061.1_Missense_Mutation_p.S1620L|SYNE1_ENST00000367253.4_Missense_Mutation_p.S1613L|SYNE1_ENST00000341594.5_Missense_Mutation_p.S1683L|SYNE1_ENST00000265368.4_Missense_Mutation_p.S1613L|SYNE1_ENST00000448038.1_Missense_Mutation_p.S1620L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1613 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GGCACTGGCTGAGAAGGCAGT 0.562000 HNSCC(10;0.0054) 38 55 0 0 1 0 0 ESF1 51575 broad.mit.edu 37 20 13740459 13740459 + Missense_Mutation SNP T T C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr20:13740459T>C ENST00000202816.1 - 9 1815 c.1708A>G c.(1708-1710)Aaa>Gaa p.K570E NM_001276380.1|NM_016649.3 NP_001263309.1|NP_057733.2 Q9H501 ESF1_HUMAN ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) 570 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1) 31 TTCTGACTTTTCTTTGTTTTC 0.323000 19 27 0 0 1 0 0 UBE2J1 51465 broad.mit.edu 37 6 90045138 90045138 + Missense_Mutation SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr6:90045138G>C ENST00000435041.2 - 6 719 c.441C>G c.(439-441)ttC>ttG p.F147L NM_016021.2 NP_057105.2 Q9Y385 UB2J1_HUMAN ubiquitin-conjugating enzyme E2, J1 147 endoplasmic reticulum membrane|integral to membrane ATP binding|ubiquitin-protein ligase activity NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1) 18 all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0139) CTTCACAACAGAAATCTTGTG 0.373000 27 31 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31591409 31591409 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr2:31591409C>T ENST00000379416.3 - 19 2146 c.2098G>A c.(2098-2100)Gag>Aag p.E700K NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 700 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) TCAGTTACCTCAATTGTGATA 0.522000 15 26 0 0 1 0 0 MTPAP 55149 broad.mit.edu 37 10 30625885 30625885 + Silent SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr10:30625885G>A ENST00000358107.4 - 5 1016 c.1017C>T c.(1015-1017)ctC>ctT p.L339L MTPAP_ENST00000263063.4_Silent_p.L209L|MTPAP_ENST00000488290.1_5'UTR Q9NVV4 PAPD1_HUMAN mitochondrial poly(A) polymerase 209 cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent mitochondrion ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 GAGAACAGGTGAGATATCGGA 0.458000 88 83 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135427062 135427062 + Missense_Mutation SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chrX:135427062G>C ENST00000394143.1 + 6 1488 c.1197G>C c.(1195-1197)aaG>aaC p.K399N GPR112_ENST00000287534.4_Missense_Mutation_p.K336N|GPR112_ENST00000394141.1_Missense_Mutation_p.K194N|GPR112_ENST00000412101.1_Missense_Mutation_p.K194N|GPR112_ENST00000370652.1_Missense_Mutation_p.K399N NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 399 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CTGTTACGAAGACAACATCTT 0.383000 41 6 0 0 1 0 0 TBX19 9095 broad.mit.edu 37 1 168260524 168260524 + Silent SNP C C T rs148222296 TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr1:168260524C>T ENST00000367821.3 + 2 381 c.330C>T c.(328-330)ccC>ccT p.P110P NM_005149.2 NP_005140.1 O60806 TBX19_HUMAN T-box 19 110 anatomical structure morphogenesis nucleus DNA binding NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1) 34 all_hematologic(923;0.215) AATGGGTGCCCGCTGGCAAGC 0.597000 53 164 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179616692 179616692 + Missense_Mutation SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr2:179616692C>G ENST00000360870.5 - 46 10657 c.10435G>C c.(10435-10437)Gac>Cac p.D3479H TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 3484 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) GATTTGTGGTCTATGTCTTCA 0.368000 93 75 0 0 1 0 0 LRRC37A16P 651250 broad.mit.edu 37 17 66126728 66126728 + RNA SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr17:66126728G>C ENST00000590019.1 - 0 298 GTTTAATTCAGAAGTATCTCT 0.428000 2 1 0 0 1 0 0 NGEF 25791 broad.mit.edu 37 2 233756125 233756125 + Missense_Mutation SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr2:233756125G>C ENST00000264051.3 - 8 1493 c.1215C>G c.(1213-1215)ttC>ttG p.F405L NGEF_ENST00000373552.4_Missense_Mutation_p.F313L|NGEF_ENST00000539537.1_Missense_Mutation_p.F128L NM_019850.2 NP_062824.2 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 405 DH. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) GGAAGGAGGAGAAGGGCAGCC 0.627000 16 41 0 0 1 0 0 PTPN1 5770 broad.mit.edu 37 20 49196427 49196427 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr20:49196427G>A ENST00000371621.3 + 8 1226 c.1052G>A c.(1051-1053)gGa>gAa p.G351E PTPN1_ENST00000541713.1_Missense_Mutation_p.G278E NM_001278618.1|NM_002827.2 NP_001265547.1|NP_002818.1 P18031 PTN1_HUMAN protein tyrosine phosphatase, non-receptor type 1 351 blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol|endoplasmic reticulum membrane protein tyrosine phosphatase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2) 16 Lung NSC(126;0.163) Clodronate(DB00720)|Tiludronate(DB01133) GAAGAAAAAGGAAGCCCCTTA 0.498000 OREG0026029 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 43 0 0 1 0 0 FAM178A 55719 broad.mit.edu 37 10 102707556 102707556 + Missense_Mutation SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr10:102707556G>C ENST00000238961.4 + 15 3614 c.3072G>C c.(3070-3072)aaG>aaC p.K1024N FAM178A_ENST00000370269.3_Missense_Mutation_p.K1024N NM_018121.3 NP_060591.3 Q8IX21 F178A_HUMAN family with sequence similarity 178, member A TTATTTCAAAGCTTTTGGATG 0.308000 28 70 0 0 1 0 0 DCUN1D3 123879 broad.mit.edu 37 16 20871597 20871597 + Nonsense_Mutation SNP C C A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr16:20871597C>A ENST00000324344.4 - 3 811 c.526G>T c.(526-528)Gag>Tag p.E176* DCUN1D3_ENST00000563934.1_Nonsense_Mutation_p.E176*|ERI2_ENST00000564349.1_Intron NM_173475.2 NP_775746.1 Q8IWE4 DCNL3_HUMAN DCN1, defective in cullin neddylation 1, domain containing 3 DCUN1. negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C perinuclear region of cytoplasm NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2) 14 GBM - Glioblastoma multiforme(48;0.249) AATTTATCCTCTTGTTTGGCT 0.478000 33 51 4.74835e-14 5.06112e-14 1 1 0 NAV1 89796 broad.mit.edu 37 1 201750418 201750418 + Missense_Mutation SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr1:201750418G>C ENST00000367296.4 + 5 2064 c.1644G>C c.(1642-1644)caG>caC p.Q548H IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Missense_Mutation_p.Q548H|NAV1_ENST00000367295.1_Missense_Mutation_p.Q157H|NAV1_ENST00000295624.6_Missense_Mutation_p.Q548H|NAV1_ENST00000367302.1_Missense_Mutation_p.Q561H|NAV1_ENST00000367300.3_Missense_Mutation_p.Q548H NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 548 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 ACACAGCCCAGAGTGCCCTCA 0.527000 5 9 0 0 1 0 0 SEMA6D 80031 broad.mit.edu 37 15 48056217 48056217 + Silent SNP C C A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr15:48056217C>A ENST00000316364.5 + 10 1357 c.918C>A c.(916-918)atC>atA p.I306I SEMA6D_ENST00000536845.2_Silent_p.I306I|SEMA6D_ENST00000389425.3_Silent_p.I306I|SEMA6D_ENST00000537942.1_Silent_p.I306I|SEMA6D_ENST00000355997.3_Silent_p.I306I|SEMA6D_ENST00000354744.4_Silent_p.I306I|SEMA6D_ENST00000389428.3_Silent_p.I306I|SEMA6D_ENST00000389433.2_Silent_p.I306I|SEMA6D_ENST00000558816.1_Silent_p.I306I|SEMA6D_ENST00000558014.1_Silent_p.I306I|SEMA6D_ENST00000389432.2_Silent_p.I306I|SEMA6D_ENST00000358066.4_Silent_p.I306I NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 306 Sema. axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) TAATACAAATCAATGGCATCC 0.468000 23 3 1.9806e-07 2.05566e-07 1 1 0 ABCB8 11194 broad.mit.edu 37 7 150742322 150742322 + Missense_Mutation SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr7:150742322G>C ENST00000358849.4 + 16 2136 c.2043G>C c.(2041-2043)aaG>aaC p.K681N ABCB8_ENST00000297504.6_Missense_Mutation_p.K698N|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000498578.1_Missense_Mutation_p.K656N|ABCB8_ENST00000542328.1_Missense_Mutation_p.K593N NM_001282291.1|NM_001282293.1|NM_007188.3 NP_001269220.1|NP_001269222.1|NP_009119.2 Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 8 698 ABC transporter. ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGCTCCTGAAGAAAGGCGGGC 0.637000 15 39 0 0 1 0 0 ERCC6-PGBD3 101243544 broad.mit.edu 37 10 50724554 50724554 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr10:50724554C>T ENST00000515869.1 - 6 2131 c.2011G>A c.(2011-2013)Gaa>Aaa p.E671K PGBD3_ENST00000603152.1_Missense_Mutation_p.E671K|PGBD3_ENST00000374127.3_Missense_Mutation_p.E203K|ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.E671K|PGBD3_ENST00000508005.2_Missense_Mutation_p.E203K NM_001277059.1 NP_001263988.1 GTTCTTTGTTCCCAAAACATA 0.388000 18 66 0 0 1 0 0 CLTA 1211 broad.mit.edu 37 9 36191104 36191104 + Silent SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr9:36191104C>T ENST00000433436.2 + 1 252 c.51C>T c.(49-51)ccC>ccT p.P17P CLTA_ENST00000345519.5_Silent_p.P17P|CLTA_ENST00000538225.1_Silent_p.P17P|CLTA_ENST00000396603.2_Silent_p.P17P|CLTA_ENST00000540080.1_Silent_p.P17P|CLTA_ENST00000470744.1_Silent_p.P17P|CLTA_ENST00000242285.6_Silent_p.P17P|CLTA_ENST00000466396.1_Silent_p.P17P NM_007096.3 NP_009027.1 P09496 CLCA_HUMAN clathrin, light chain A 17 axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol structural molecule activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1) 6 STAD - Stomach adenocarcinoma(86;0.228) CTGGCGGTCCCGCGCTGGGGA 0.687000 9 14 0 0 1 0 0 USP28 57646 broad.mit.edu 37 11 113711387 113711387 + Missense_Mutation SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr11:113711387C>G ENST00000003302.4 - 5 535 c.467G>C c.(466-468)aGa>aCa p.R156T USP28_ENST00000542033.1_5'UTR|USP28_ENST00000537706.1_Missense_Mutation_p.R156T|USP28_ENST00000545540.1_Missense_Mutation_p.R31T|USP28_ENST00000260188.5_Missense_Mutation_p.R156T NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 156 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) ACCATCAACTCTCCTCCAGTC 0.413000 19 27 0 0 1 0 0 PURA 5813 broad.mit.edu 37 5 139494679 139494679 + Nonsense_Mutation SNP G G T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr5:139494679G>T ENST00000331327.3 + 1 972 c.913G>T c.(913-915)Gag>Tag p.E305* NM_005859.4 NP_005850.1 Q00577 PURA_HUMAN purine-rich element binding protein A 305 Gln/Glu-rich (part of the transcriptional activation domain). DNA unwinding involved in replication|DNA-dependent DNA replication initiation DNA replication factor A complex double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding central_nervous_system(1)|lung(2)|ovary(1)|prostate(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) gcagcaggaggagACCGCCGC 0.547000 7 20 8.12818e-05 8.31504e-05 1 1 0 NCOA1 8648 broad.mit.edu 37 2 24896300 24896300 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr2:24896300G>A ENST00000405141.1 + 8 1033 c.322G>A c.(322-324)Gaa>Aaa p.E108K NCOA1_ENST00000406961.1_Missense_Mutation_p.E108K|NCOA1_ENST00000395856.3_Missense_Mutation_p.E108K|NCOA1_ENST00000538539.1_Missense_Mutation_p.E108K|NCOA1_ENST00000407230.1_5'UTR|NCOA1_ENST00000288599.5_Missense_Mutation_p.E108K|NCOA1_ENST00000348332.3_Missense_Mutation_p.E108K Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 108 PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGGAGTGATAGAAAAGGAATC 0.338000 T PAX3 alveolar rhadomyosarcoma 30 43 0 0 1 0 0 AGO4 192670 broad.mit.edu 37 1 36307064 36307064 + Missense_Mutation SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr1:36307064G>C ENST00000373210.3 + 14 2268 c.2023G>C c.(2023-2025)Gag>Cag p.E675Q NM_017629.3 NP_060099.2 argonaute RISC catalytic component 4 AGGGGTATCTGAGGGACAAAT 0.502000 28 39 0 0 1 0 0 TUB 7275 broad.mit.edu 37 11 8060557 8060557 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr11:8060557G>A ENST00000305253.4 + 1 378 c.137G>A c.(136-138)cGg>cAg p.R46Q RP11-236J17.6_ENST00000528151.1_RNA|RP11-236J17.6_ENST00000526646.1_RNA|TUB_ENST00000534099.1_Intron NM_003320.4 NP_003311.2 P50607 TUB_HUMAN tubby bipartite transcription factor 0 phagocytosis|positive regulation of phagocytosis|response to stimulus cytoplasm|extracellular region|nucleus|plasma membrane breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 26 all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17) Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184) CCCCTGAAACGGGGCCACCGA 0.572000 31 20 0 0 1 0 0 ZNF23 7571 broad.mit.edu 37 16 71512902 71512902 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr16:71512902C>T ENST00000561908.1 - 4 542 c.40G>A c.(40-42)Gtg>Atg p.V14M ZNF19_ENST00000567225.1_Missense_Mutation_p.V14M|ZNF19_ENST00000565637.1_De_novo_Start_InFrame|ZNF19_ENST00000564230.1_Missense_Mutation_p.V14M|ZNF19_ENST00000288177.5_Missense_Mutation_p.V14M|ZNF19_ENST00000565100.2_Intron TCGAAGGTCACCATCTCCTAA 0.557000 18 23 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43580838 43580838 + RNA SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr17:43580838C>T ENST00000253803.2 + 0 213 gcaaggacctcagcagcggtt 0.587000 19 24 0 0 1 0 0 ANO8 57719 broad.mit.edu 37 19 17436077 17436077 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr19:17436077C>T ENST00000159087.4 - 17 2938 c.2780G>A c.(2779-2781)cGa>cAa p.R927Q NM_020959.2 NP_066010.1 Q9HCE9 ANO8_HUMAN anoctamin 8 927 chloride channel complex chloride channel activity autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3) 27 CGCCTCCTCTCGGCCACCAGA 0.706000 18 14 0 0 1 0 0 SDF2L1 23753 broad.mit.edu 37 22 21997180 21997180 + Nonsense_Mutation SNP G G T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr22:21997180G>T ENST00000248958.4 + 2 293 c.217G>T c.(217-219)Gag>Tag p.E73* NM_022044.2 NP_071327.2 Q9HCN8 SDF2L_HUMAN stromal cell-derived factor 2-like 1 73 MIR 1. endoplasmic reticulum lumen|membrane prostate(1) 1 Colorectal(54;0.105) GACCGGCGTAGAGGCGTCGGA 0.726000 4 1 0.184627 0.184627 1 1 0 LCP2 3937 broad.mit.edu 37 5 169679455 169679455 + Missense_Mutation SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr5:169679455G>C ENST00000046794.5 - 19 1921 c.1306C>G c.(1306-1308)Ctt>Gtt p.L436V LCP2_ENST00000521416.1_Missense_Mutation_p.L231V NM_005565.3 NP_005556.1 Q13094 LCP2_HUMAN lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) 436 SH2. immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway cytosol protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 23 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) OV - Ovarian serous cystadenocarcinoma(192;0.247) ATCTTTCTAAGAGCAGCTTCT 0.328000 7 4 0 0 1 0 0 EPB41L4B 54566 broad.mit.edu 37 9 111947821 111947821 + Missense_Mutation SNP A A G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr9:111947821A>G ENST00000374566.3 - 23 2883 c.2366T>C c.(2365-2367)aTg>aCg p.M789T NM_019114.3 NP_061987.3 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 789 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CTCTTCCTTCATGGGGAGAGA 0.617000 6 39 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49419968 49419968 + Nonsense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr12:49419968G>A ENST00000301067.7 - 48 15780 c.15781C>T c.(15781-15783)Cag>Tag p.Q5261* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TGCTCACCCTGGGGAGAGGCG 0.507000 25 38 0 0 1 0 0 RFX5 5993 broad.mit.edu 37 1 151318681 151318681 + Splice_Site SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr1:151318681G>A ENST00000290524.4 - 3 294 c.116C>T c.(115-117)tCc>tTc p.S39F RFX5_ENST00000368870.2_Splice_Site_p.S39F|RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000452513.2_Splice_Site_p.S39F|RFX5_ENST00000452671.2_Splice_Site_p.S39F NM_000449.3|NM_001025603.1 NP_000440.1|NP_001020774.1 P48382 RFX5_HUMAN regulatory factor X, 5 (influences HLA class II expression) 39 N-terminal domain. 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) GAGTACTTACGAAATGGTACC 0.557000 5 297 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189874904 189874904 + Splice_Site SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr2:189874904G>C ENST00000304636.3 + 49 3994 c.3824G>C c.(3823-3825)gGa>gCa p.G1275A COL3A1_ENST00000317840.5_Splice_Site_p.G972A NM_000090.3 NP_000081 P02461 CO3A1_HUMAN collagen, type III, alpha 1 1275 Fibrillar collagen NC1. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) GACTATTCAGGAGAATACTGG 0.358000 31 27 0 0 1 0 0 CCNT1 904 broad.mit.edu 37 12 49087306 49087306 + Missense_Mutation SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr12:49087306G>C ENST00000261900.3 - 9 1913 c.1691C>G c.(1690-1692)tCt>tGt p.S564C NM_001240.3 NP_001231.2 O60563 CCNT1_HUMAN cyclin T1 564 Ser-rich. cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 AGAGGAAAAAGAACTAGACAA 0.453000 52 66 0 0 1 0 0 MCM3AP 8888 broad.mit.edu 37 21 47666548 47666548 + Missense_Mutation SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr21:47666548C>G ENST00000397708.1 - 22 4797 c.4543G>C c.(4543-4545)Gaa>Caa p.E1515Q MCM3AP_ENST00000291688.1_Missense_Mutation_p.E1515Q|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000467026.1_5'UTR O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 1515 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) AAACCATCTTCTACTTCCTTC 0.547000 93 105 0 0 1 0 0 HIP1 3092 broad.mit.edu 37 7 75203084 75203084 + Missense_Mutation SNP G G T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr7:75203084G>T ENST00000336926.6 - 8 753 c.727C>A c.(727-729)Ctc>Atc p.L243I HIP1_ENST00000434438.2_Missense_Mutation_p.L243I NM_005338.5 NP_005329.3 O00291 HIP1_HUMAN huntingtin interacting protein 1 243 activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 AGTTTGAAGAGAAGCTTGACA 0.582000 T PDGFRB CMML 32 15 3.03874e-20 3.27816e-20 1 1 0 CERK 64781 broad.mit.edu 37 22 47116874 47116874 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr22:47116874C>T ENST00000216264.8 - 2 293 c.181G>A c.(181-183)Gag>Aag p.E61K CERK_ENST00000541677.1_5'UTR NM_022766.5 NP_073603.2 Q8TCT0 CERK1_HUMAN ceramide kinase 61 Required for binding to sulfatide and phosphoinositides. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process integral to membrane of membrane fraction|membrane|nucleus ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2) 20 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171) TCTGTTTCCTCAACGGCGATG 0.448000 93 125 0 0 1 0 0 HDAC3 8841 broad.mit.edu 37 5 141016334 141016334 + Missense_Mutation SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr5:141016334G>C ENST00000305264.3 - 1 103 c.24C>G c.(22-24)ttC>ttG p.F8L NM_003883.3 NP_003874.2 O15379 HDAC3_HUMAN histone deacetylase 3 8 Histone deacetylase. anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Vorinostat(DB02546) CGGGGTCGTAGAAATAGGCCA 0.692000 56 33 0 0 1 0 0 LACE1 246269 broad.mit.edu 37 6 108645138 108645138 + Missense_Mutation SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr6:108645138C>G ENST00000368977.4 + 2 435 c.249C>G c.(247-249)atC>atG p.I83M NM_145315.3 NP_660358.2 Q8WV93 LACE1_HUMAN lactation elevated 1 83 ATP binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 15 all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152) BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118) ATTTTCTGATCAAAGCTCATG 0.428000 58 67 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38229388 38229388 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr13:38229388G>A ENST00000379705.3 - 7 2578 c.1721C>T c.(1720-1722)tCa>tTa p.S574L TRPC4_ENST00000447043.1_Missense_Mutation_p.S574L|TRPC4_ENST00000379679.1_Missense_Mutation_p.S401L|TRPC4_ENST00000379681.3_Missense_Mutation_p.S574L|TRPC4_ENST00000338947.5_Missense_Mutation_p.S401L|TRPC4_ENST00000379673.2_Missense_Mutation_p.S574L|TRPC4_ENST00000358477.2_Missense_Mutation_p.S574L|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000355779.2_Missense_Mutation_p.S574L Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 574 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) CCCAAATATTGACCAAAACAG 0.338000 28 23 0 0 1 0 0 POLL 27343 broad.mit.edu 37 10 103343316 103343316 + Silent SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr10:103343316G>A ENST00000370162.3 - 6 1508 c.1014C>T c.(1012-1014)ttC>ttT p.F338F POLL_ENST00000436284.2_3'UTR|POLL_ENST00000339310.3_Silent_p.F61F|DPCD_ENST00000470165.1_Intron|POLL_ENST00000456836.2_Silent_p.F75F|POLL_ENST00000370158.3_Silent_p.F63F|POLL_ENST00000370169.1_Silent_p.F338F|POLL_ENST00000370172.1_Silent_p.F250F|POLL_ENST00000299206.4_Silent_p.F338F|DPCD_ENST00000416979.2_Intron NM_001174084.1|NM_001174085.1|NM_013274.3 NP_001167555.1|NP_001167556.1|NP_037406.1 Q9UGP5 DPOLL_HUMAN polymerase (DNA directed), lambda 338 DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes nucleus DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2) 19 Colorectal(252;0.234) Epithelial(162;1.55e-08)|all cancers(201;6.64e-07) AGATGTTGGAGAAGAGCTCCA 0.542000 DNA polymerases (catalytic subunits) 28 18 0 0 1 0 0 ADIPOQ 9370 broad.mit.edu 37 3 186572145 186572145 + Silent SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr3:186572145C>T ENST00000412955.2 + 3 528 c.387C>T c.(385-387)ccC>ccT p.P129P ADIPOQ_ENST00000320741.2_Silent_p.P129P|ADIPOQ-AS1_ENST00000422718.1_RNA|ADIPOQ_ENST00000444204.2_Silent_p.P129P Q15848 ADIPO_HUMAN adiponectin, C1Q and collagen domain containing 129 C1q. brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor collagen|endoplasmic reticulum|extracellular space cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2) 16 all_cancers(143;1.2e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.47e-19) GBM - Glioblastoma multiforme(93;0.0776) CCAACATGCCCATTCGCTTTA 0.473000 13 64 0 0 1 0 0 HIST2H2AC 8338 broad.mit.edu 37 1 149858692 149858692 + Silent SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr1:149858692C>G ENST00000331380.2 + 1 168 c.168C>G c.(166-168)ctC>ctG p.L56L NM_003517.2 NP_003508.1 Q16777 H2A2C_HUMAN histone cluster 2, H2ac 56 nucleosome assembly nucleosome|nucleus DNA binding p.L56L(2) NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1) 20 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) CGGCGGTCCTCGAGTACCTGA 0.687000 37 49 0 0 1 0 0 PTPN1 5770 broad.mit.edu 37 20 49195795 49195795 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr20:49195795G>A ENST00000371621.3 + 7 967 c.793G>A c.(793-795)Gac>Aac p.D265N PTPN1_ENST00000541713.1_Missense_Mutation_p.D192N NM_001278618.1|NM_002827.2 NP_001265547.1|NP_002818.1 P18031 PTN1_HUMAN protein tyrosine phosphatase, non-receptor type 1 265 Tyrosine-protein phosphatase. blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol|endoplasmic reticulum membrane protein tyrosine phosphatase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2) 16 Lung NSC(126;0.163) Clodronate(DB00720)|Tiludronate(DB01133) CCAGACAGCCGACCAGCTGCG 0.502000 62 92 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100160158 100160158 + Missense_Mutation SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr8:100160158C>G ENST00000395996.1 + 14 2044 c.1933C>G c.(1933-1935)Ctc>Gtc p.L645V VPS13B_ENST00000355155.1_Missense_Mutation_p.L645V|VPS13B_ENST00000358544.2_Missense_Mutation_p.L645V|VPS13B_ENST00000357162.2_Missense_Mutation_p.L645V Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 645 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) AAGTGTTACTCTCCTCAAATG 0.358000 53 71 0 0 1 0 0 C7orf50 84310 broad.mit.edu 37 7 1166985 1166985 + Missense_Mutation SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr7:1166985C>G ENST00000397098.3 - 2 963 c.37G>C c.(37-39)Gag>Cag p.E13Q C7orf50_ENST00000488073.1_5'UTR|C7orf50_ENST00000357429.6_Missense_Mutation_p.E13Q|C7orf50_ENST00000397100.2_Missense_Mutation_p.E13Q Q9BRJ6 CG050_HUMAN chromosome 7 open reading frame 50 13 protein binding kidney(1)|large_intestine(1)|lung(3)|ovary(1) 6 Ovarian(82;0.0779) UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15) TTCTTTTTCTCTGTCACTTCA 0.483000 20 18 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25457288 25457288 + RNA SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr15:25457288G>A ENST00000424208.1 + 0 2534 SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA NR_003305.1 TTCTGCCAAGGGGGGGCCTCC 0.582000 3 2 0 0 1 0 0 GGT3P 2679 broad.mit.edu 37 22 18769145 18769145 + RNA SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr22:18769145G>A ENST00000412448.1 - 0 1141 TGAGGCTGCCGTTGTAGAAGG 0.612000 3 15 0 0 1 0 0 YIF1B 90522 broad.mit.edu 37 19 38800062 38800062 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr19:38800062C>T ENST00000392124.3 - 1 501 c.187G>A c.(187-189)Gag>Aag p.E63K YIF1B_ENST00000329420.8_Missense_Mutation_p.E79K|YIF1B_ENST00000339413.6_Missense_Mutation_p.E94K|YIF1B_ENST00000592694.1_Missense_Mutation_p.E63K|YIF1B_ENST00000587361.1_5'UTR|YIF1B_ENST00000337679.8_Missense_Mutation_p.E91K|YIF1B_ENST00000591784.1_Missense_Mutation_p.E63K|YIF1B_ENST00000592246.1_Missense_Mutation_p.E63K|YIF1B_ENST00000591755.1_Missense_Mutation_p.E91K NM_033557.3 NP_291035.1 Q5BJH7 YIF1B_HUMAN Yip1 interacting factor homolog B (S. cerevisiae) 94 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1) 10 all_cancers(60;1.07e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) TCCACCAGCTCCTTGCCCTGC 0.657000 7 21 0 0 1 0 0 LAIR2 3904 broad.mit.edu 37 19 55019131 55019131 + Silent SNP G G A rs142699455 TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr19:55019131G>A ENST00000301202.2 + 3 218 c.96G>A c.(94-96)tcG>tcA p.S32S LAIR2_ENST00000351841.2_Silent_p.S32S NM_002288.4 NP_002279.2 Q6ISS4 LAIR2_HUMAN leukocyte-associated immunoglobulin-like receptor 2 32 Ig-like C2-type. extracellular region receptor activity central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1) 18 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0967) CCTCCATCTCGGCTGAGCCAG 0.577000 74 69 0 0 1 0 0 CCIN 881 broad.mit.edu 37 9 36170889 36170889 + Missense_Mutation SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr9:36170889G>C ENST00000335119.2 + 1 1501 c.1390G>C c.(1390-1392)Gag>Cag p.E464Q NM_005893.2 NP_005884.2 Q13939 CALI_HUMAN calicin 464 cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4) 21 STAD - Stomach adenocarcinoma(86;0.228) CTTCCCCATTGAGTTCAACCA 0.557000 44 73 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79207580 79207580 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr4:79207580C>T ENST00000264895.6 + 14 1861 c.1421C>T c.(1420-1422)aCg>aTg p.T474M FRAS1_ENST00000325942.6_Missense_Mutation_p.T474M|FRAS1_ENST00000264899.6_Missense_Mutation_p.T474M NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 474 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 CAGTGCTCCACGTGTACCAGT 0.572000 41 23 0 0 1 0 0 NCOA1 8648 broad.mit.edu 37 2 24896236 24896236 + Splice_Site SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr2:24896236G>C ENST00000405141.1 + 8 969 c.258G>C c.(256-258)gaG>gaC p.E86D NCOA1_ENST00000406961.1_Splice_Site_p.E86D|NCOA1_ENST00000395856.3_Splice_Site_p.E86D|NCOA1_ENST00000538539.1_Splice_Site_p.E86D|NCOA1_ENST00000407230.1_5'UTR|NCOA1_ENST00000288599.5_Splice_Site_p.E86D|NCOA1_ENST00000348332.3_Splice_Site_p.E86D Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 86 PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTATTATAGAGAAATCAACAA 0.333000 T PAX3 alveolar rhadomyosarcoma 17 39 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47363894 47363894 + Missense_Mutation SNP G G T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr18:47363894G>T ENST00000285039.7 - 37 5430 c.5131C>A c.(5131-5133)Caa>Aaa p.Q1711K RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.Q34K|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000592688.1_Missense_Mutation_p.Q281K|MYO5B_ENST00000324581.6_Missense_Mutation_p.Q826K NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 1711 Dilute. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) TACCTGAGTTGCATGCCTGTG 0.498000 9 15 0.000442599 0.000451477 1 1 0 NHS 4810 broad.mit.edu 37 X 17750302 17750302 + Silent SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chrX:17750302G>A ENST00000380060.3 + 8 4949 c.4611G>A c.(4609-4611)caG>caA p.Q1537Q NHS_ENST00000398097.3_Silent_p.Q1381Q NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 1537 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) AGTCCCCTCAGAGCACCGATG 0.567000 50 5 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112642326 112642326 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr12:112642326C>T ENST00000550722.1 - 53 8190 c.7795G>A c.(7795-7797)Gaa>Aaa p.E2599K HECTD4_ENST00000377560.5_Missense_Mutation_p.E2573K|HECTD4_ENST00000430131.2_Missense_Mutation_p.E2323K NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 TTGTTTGCTTCGTCTTTAATG 0.393000 28 25 0 0 1 0 0 MSI2 124540 broad.mit.edu 37 17 55335715 55335715 + Splice_Site SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr17:55335715G>A ENST00000284073.2 + 4 479 c.270G>A c.(268-270)acG>acA p.T90T MSI2_ENST00000322684.3_Splice_Site_p.T86T|MSI2_ENST00000416426.2_Splice_Site_p.T68T NM_138962.2 NP_620412.1 Q96DH6 MSI2H_HUMAN musashi RNA-binding protein 2 90 RRM 1. cytoplasm nucleotide binding|RNA binding p.T90T(1)|p.T86T(1) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1) 7 Breast(9;1.78e-08) GBM - Glioblastoma multiforme(1;0.0025) ATTCCAAGACGGTAGGTTGCT 0.478000 T HOXA9 CML 27 87 0 0 1 0 0 N4BP3 23138 broad.mit.edu 37 5 177548745 177548745 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr5:177548745G>A ENST00000274605.5 + 5 1737 c.1378G>A c.(1378-1380)Gag>Aag p.E460K NM_015111.1 NP_055926.1 O15049 N4BP3_HUMAN NEDD4 binding protein 3 460 cytoplasmic vesicle membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 9 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGGAGGCAGCGAGGCCAGAGA 0.687000 12 1 0 0 1 0 0 DNAJB14 79982 broad.mit.edu 37 4 100867639 100867639 + Silent SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr4:100867639G>A ENST00000442697.2 - 1 244 c.90C>T c.(88-90)ttC>ttT p.F30F DNAJB14_ENST00000471738.1_5'UTR NM_001031723.2|NM_001278310.1 NP_001026893.1|NP_001265239.1 Q8TBM8 DJB14_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 14 30 protein folding integral to membrane heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(123;4.59e-09) CCTTCTGCAGGAAGCGCTGGG 0.652000 22 3 0 0 1 0 0 STAG1 10274 broad.mit.edu 37 3 136078066 136078066 + Missense_Mutation SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr3:136078066C>G ENST00000383202.2 - 27 3116 c.2860G>C c.(2860-2862)Gaa>Caa p.E954Q STAG1_ENST00000236698.5_Missense_Mutation_p.E954Q|STAG1_ENST00000434713.2_Missense_Mutation_p.E694Q|STAG1_ENST00000536929.1_Missense_Mutation_p.E538Q NM_005862.2 NP_005853.2 Q8WVM7 STAG1_HUMAN stromal antigen 1 954 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 CGTGCCAGTTCTTTAATGCCA 0.398000 30 28 0 0 1 0 0 FBXL3 26224 broad.mit.edu 37 13 77595934 77595934 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr13:77595934G>A ENST00000355619.5 - 2 386 c.62C>T c.(61-63)tCc>tTc p.S21F NM_012158.2 NP_036290.1 Q9UKT7 FBXL3_HUMAN F-box and leucine-rich repeat protein 3 21 regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytoplasm|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1) 16 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218) GBM - Glioblastoma multiforme(99;0.0521) CAGTTTCTTGGATTTCTCTGC 0.383000 17 86 0 0 1 0 0 MTOR 2475 broad.mit.edu 37 1 11187752 11187752 + Missense_Mutation SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr1:11187752C>G ENST00000361445.4 - 44 6221 c.6145G>C c.(6145-6147)Gag>Cag p.E2049Q MTOR_ENST00000376838.1_Missense_Mutation_p.E254Q NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 2049 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 TCCAGCACCTCAAACATGCCT 0.507000 90 85 0 0 1 0 0 CUL1 8454 broad.mit.edu 37 7 148489832 148489832 + Missense_Mutation SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr7:148489832G>C ENST00000325222.4 + 17 2100 c.1821G>C c.(1819-1821)caG>caC p.Q607H CUL1_ENST00000602748.1_Missense_Mutation_p.Q607H|CUL1_ENST00000409469.1_Missense_Mutation_p.Q607H NM_003592.2 NP_003583.2 Q13616 CUL1_HUMAN cullin 1 607 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 40 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) CGACATTCCAGATGGCTATCC 0.448000 9 17 0 0 1 0 0 SEMA5A 9037 broad.mit.edu 37 5 9202183 9202183 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr5:9202183C>T ENST00000382496.5 - 9 1481 c.816G>A c.(814-816)atG>atA p.M272I NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 272 Sema. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 GGCGAGCCTTCATGAATGTGG 0.527000 44 52 0 0 1 0 0 PROM2 150696 broad.mit.edu 37 2 95954741 95954741 + Silent SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr2:95954741G>C ENST00000317620.9 + 23 2635 c.2502G>C c.(2500-2502)ctG>ctC p.L834L PROM2_ENST00000542147.1_Silent_p.L785L|PROM2_ENST00000317668.4_Silent_p.L834L|PROM2_ENST00000403131.2_Silent_p.L834L NM_001165978.1 NP_001159450.1 Q8N271 PROM2_HUMAN prominin 2 834 apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 32 CCCTGAAGCTGTAGGGCCTTG 0.597000 39 20 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10397696 10397696 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr17:10397696G>A ENST00000226207.5 - 39 5736 c.5642C>T c.(5641-5643)tCc>tTc p.S1881F CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1881 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TCTCTTGTAGGATTTCACCTT 0.433000 43 41 0 0 1 0 0 KPNA2 3838 broad.mit.edu 37 17 66033579 66033579 + Missense_Mutation SNP A A G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr17:66033579A>G ENST00000537025.2 + 3 801 c.181A>G c.(181-183)Act>Gct p.T61A KPNA2_ENST00000330459.3_Missense_Mutation_p.T61A P52292 IMA2_HUMAN karyopherin alpha 2 (RAG cohort 1, importin alpha 1) 61 DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination cytoplasm|nuclear pore|nucleoplasm histone deacetylase binding|nuclear localization sequence binding|protein transporter activity breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2) 22 all_cancers(12;1.18e-09) BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) TGATGATGCTACTTCTCCGCT 0.418000 72 65 0 0 1 0 0 FBXL3 26224 broad.mit.edu 37 13 77595961 77595961 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr13:77595961G>A ENST00000355619.5 - 2 359 c.35C>T c.(34-36)tCa>tTa p.S12L NM_012158.2 NP_036290.1 Q9UKT7 FBXL3_HUMAN F-box and leucine-rich repeat protein 3 12 regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytoplasm|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1) 16 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218) GBM - Glioblastoma multiforme(99;0.0521) TTCTTCTGATGAATTACGGTC 0.373000 24 78 0 0 1 0 0 FNBP4 23360 broad.mit.edu 37 11 47758243 47758243 + Missense_Mutation SNP C C A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr11:47758243C>A ENST00000263773.5 - 9 1518 c.1506G>T c.(1504-1506)gaG>gaT p.E502D FNBP4_ENST00000534003.1_5'UTR NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 502 NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 CTACTTCCATCTCTTTATCTG 0.289000 22 23 1.50039e-11 1.59444e-11 1 1 0 CROCCP2 84809 broad.mit.edu 37 1 16946437 16946437 + RNA SNP C C T rs2262202 TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr1:16946437C>T ENST00000412962.1 - 0 1082 AGCCTTCCGCCGGGCCAGCAG 0.672000 3 12 0 0 1 0 0 SLC11A1 6556 broad.mit.edu 37 2 219249071 219249071 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr2:219249071G>A ENST00000233202.6 + 3 596 c.256G>A c.(256-258)Gcc>Acc p.A86T SLC11A1_ENST00000473367.1_3'UTR|SLC11A1_ENST00000539932.1_5'UTR NM_000578.3 NP_000569.3 P49279 NRAM1_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 86 A -> P (in Ref. 5). activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCAGGCTGGCGCCGTGGCGGG 0.577000 35 51 0 0 1 0 0 TSHZ1 10194 broad.mit.edu 37 18 72998746 72998746 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr18:72998746G>A ENST00000322038.5 + 2 1833 c.1249G>A c.(1249-1251)Gaa>Aaa p.E417K TSHZ1_ENST00000580243.1_Missense_Mutation_p.E462K NM_005786.5 NP_005777.3 Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 462 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) CCCTGTGGTGGAAGAGAAGAT 0.627000 12 27 0 0 1 0 0 KIAA0368 23392 broad.mit.edu 37 9 114202739 114202739 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr9:114202739G>A ENST00000259335.4 - 7 985 c.986C>T c.(985-987)tCa>tTa p.S329L KIAA0368_ENST00000338205.5_Missense_Mutation_p.S151L NM_001080398.1 NP_001073867.1 KIAA0368 NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 TGGAGAAGCTGATTTTGATGA 0.343000 14 14 0 0 1 0 0 OFD1 8481 broad.mit.edu 37 X 13764961 13764961 + Missense_Mutation SNP A A T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chrX:13764961A>T ENST00000380567.1 + 9 1169 c.297A>T c.(295-297)gaA>gaT p.E99D OFD1_ENST00000380550.3_Missense_Mutation_p.E239D|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000398395.3_Missense_Mutation_p.E239D|OFD1_ENST00000340096.6_Missense_Mutation_p.E239D O75665 OFD1_HUMAN oral-facial-digital syndrome 1 239 LisH. cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle centriole|cilium|cytosol|microtubule basal body|nuclear membrane alpha-tubulin binding|gamma-tubulin binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 25 AAAAGTATGAAAAGGAGTTAA 0.308000 15 88 0 0 1 0 0 NCKIPSD 51517 broad.mit.edu 37 3 48716072 48716072 + Silent SNP G G T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr3:48716072G>T ENST00000294129.2 - 12 2009 c.1890C>A c.(1888-1890)atC>atA p.I630I NCKIPSD_ENST00000416649.2_Silent_p.I623I|NCKIPSD_ENST00000341520.4_Silent_p.I630I NM_016453.2 NP_057537.1 Q9NZQ3 SPN90_HUMAN NCK interacting protein with SH3 domain 630 cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction intermediate filament|nucleus cytoskeletal protein binding|SH3 domain binding endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TGTGGTAGAAGATGGCAGCTG 0.572000 49 34 5.18031e-10 5.48867e-10 1 1 0 TMCO3 55002 broad.mit.edu 37 13 114202701 114202701 + Silent SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr13:114202701C>T ENST00000434316.2 + 12 2213 c.1854C>T c.(1852-1854)gcC>gcT p.A618A TMCO3_ENST00000375391.1_Intron NM_017905.4 NP_060375.4 Q6UWJ1 TMCO3_HUMAN transmembrane and coiled-coil domains 3 618 integral to membrane solute:hydrogen antiporter activity NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1) 25 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983) all cancers(43;0.0317) CGGGGCTTGCCCAGGTCAGCG 0.637000 22 10 0 0 1 0 0 PPP2R5C 5527 broad.mit.edu 37 14 102372852 102372852 + Missense_Mutation SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr14:102372852G>C ENST00000422945.2 + 12 1326 c.1230G>C c.(1228-1230)aaG>aaC p.K410N PPP2R5C_ENST00000557095.1_Missense_Mutation_p.K379N|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.K434N|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.K379N|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.K379N|PPP2R5C_ENST00000334743.5_Missense_Mutation_p.K379N NM_001161725.1 NP_001155197.1 Q13362 2A5G_HUMAN protein phosphatase 2, regulatory subunit B', gamma 379 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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction chromosome, centromeric region|nucleus|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 GCAACTCAAAGACCCATTGGA 0.373000 45 36 0 0 1 0 0 REV1 51455 broad.mit.edu 37 2 100017760 100017760 + Missense_Mutation SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr2:100017760C>G ENST00000258428.3 - 23 3928 c.3700G>C c.(3700-3702)Gac>Cac p.D1234H REV1_ENST00000393445.3_Missense_Mutation_p.D1233H|EIF5B_ENST00000289371.6_3'UTR NM_001037872.1|NM_016316.2 NP_001032961.1|NP_057400.1 Q9UBZ9 REV1_HUMAN REV1, polymerase (DNA directed) 1234 Protein interaction domain; mediates interaction with DNA polymerase zeta. DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TGGACATTGTCAAGAATAAAG 0.398000 Direct reversal of damage 18 46 0 0 1 0 0 COL21A1 81578 broad.mit.edu 37 6 56032952 56032952 + Silent SNP T T C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr6:56032952T>C ENST00000244728.5 - 6 1567 c.1170A>G c.(1168-1170)ggA>ggG p.G390G COL21A1_ENST00000535941.1_Silent_p.G390G|COL21A1_ENST00000370819.1_Silent_p.G390G NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 390 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) CAGAATATTTTCCAATTTGGG 0.318000 4 4 0 0 1 0 0 SERPINB10 5273 broad.mit.edu 37 18 61582754 61582754 + Missense_Mutation SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr18:61582754C>G ENST00000238508.3 + 2 69 c.10C>G c.(10-12)Cta>Gta p.L4V NM_005024.1 NP_005015.1 serpin peptidase inhibitor, clade B (ovalbumin), member 10 breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2) 24 Esophageal squamous(42;0.131) AATGGACTCTCTAGCAACATC 0.348000 52 33 0 0 1 0 0 SEPT9 10801 broad.mit.edu 37 17 75484920 75484920 + Silent SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr17:75484920C>G ENST00000329047.8 + 6 1994 c.1182C>G c.(1180-1182)ctC>ctG p.L394L SEPT9_ENST00000431235.2_Silent_p.L248L|SEPT9_ENST00000541152.2_Silent_p.L161L|SEPT9_ENST00000588690.1_Silent_p.L248L|SEPT9_ENST00000590294.1_Silent_p.L394L|SEPT9_ENST00000427674.2_Silent_p.L248L|SEPT9_ENST00000449803.2_Silent_p.L248L|SEPT9_ENST00000591088.1_Silent_p.L161L|SEPT9_ENST00000592481.1_3'UTR|SEPT9_ENST00000423034.2_Silent_p.L405L|SEPT9_ENST00000585930.1_Silent_p.L188L|SEPT9_ENST00000592951.1_Silent_p.L161L|SEPT9_ENST00000427177.1_Silent_p.L412L|SEPT9_ENST00000427180.1_Silent_p.L300L|SEPT9_ENST00000591198.1_Silent_p.L393L NM_006640.4 NP_006631.2 Q9UHD8 SEPT9_HUMAN septin 9 412 cell cycle|cell division|protein heterooligomerization microtubule|perinuclear region of cytoplasm|stress fiber GTP binding|GTPase activity|protein binding autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2) 16 BRCA - Breast invasive adenocarcinoma(99;0.153) ACTGCTGCCTCTACTTCATCC 0.607000 21 34 0 0 1 0 0 CLDN14 23562 broad.mit.edu 37 21 37833330 37833330 + Missense_Mutation SNP C C T rs138008896 byFrequency TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr21:37833330C>T ENST00000399137.1 - 3 1530 c.664G>A c.(664-666)Gcc>Acc p.A222T CLDN14_ENST00000399139.1_Missense_Mutation_p.A222T|AP000695.4_ENST00000428667.1_RNA|AP000695.6_ENST00000429588.1_RNA|CLDN14_ENST00000399135.1_Missense_Mutation_p.A222T|CLDN14_ENST00000399136.1_Missense_Mutation_p.A222T|CLDN14_ENST00000342108.2_Missense_Mutation_p.A222T NM_144492.2 NP_652763.1 O95500 CLD14_HUMAN claudin 14 222 calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly endoplasmic reticulum|integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|lung(5)|skin(1) 7 ACTGAGGGGGCCCGATTGTCT 0.667000 24 24 0 0 1 0 0 PRPF4B 8899 broad.mit.edu 37 6 4041080 4041080 + Missense_Mutation SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr6:4041080G>C ENST00000337659.6 + 4 1587 c.1487G>C c.(1486-1488)aGa>aCa p.R496T PRPF4B_ENST00000538861.1_Missense_Mutation_p.R482T NM_003913.4 NP_003904.3 Q13523 PRP4B_HUMAN pre-mRNA processing factor 4B 496 Arg/Lys-rich (basic). catalytic step 2 spliceosome ATP binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 22 Ovarian(93;0.0925) all_hematologic(90;0.0895) CGAAGGAGCAGAAGCAAAGTA 0.438000 38 32 0 0 1 0 0 FPR3 2359 broad.mit.edu 37 19 52327547 52327547 + Missense_Mutation SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr19:52327547C>G ENST00000339223.4 + 2 725 c.546C>G c.(544-546)ttC>ttG p.F182L FPR3_ENST00000595991.1_Missense_Mutation_p.F182L NM_002030.3 NP_002021.3 P25089 FPR3_HUMAN formyl peptide receptor 3 182 cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3) 35 ACTTTGCATTCTGGGGTGACA 0.428000 71 60 0 0 1 0 0 CFH 3075 broad.mit.edu 37 1 196682931 196682931 + Missense_Mutation SNP C C A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr1:196682931C>A ENST00000367429.4 + 10 1643 c.1403C>A c.(1402-1404)gCc>gAc p.A468D NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 468 Sushi 8. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TATACATATGCCTTAAAAGAA 0.338000 23 57 1.85244e-09 1.95109e-09 1 1 0 ZBTB5 9925 broad.mit.edu 37 9 37441255 37441255 + Missense_Mutation SNP G G T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr9:37441255G>T ENST00000307750.4 - 2 1482 c.1294C>A c.(1294-1296)Cca>Aca p.P432T NM_014872.2 NP_055687.1 O15062 ZBTB5_HUMAN zinc finger and BTB domain containing 5 432 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1) 8 GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226) GTGGTGTTTGGAATATTATCA 0.463000 26 36 5.35047e-06 5.48924e-06 1 1 0 RBM47 54502 broad.mit.edu 37 4 40440341 40440341 + Missense_Mutation SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr4:40440341C>G ENST00000319592.4 - 4 1279 c.570G>C c.(568-570)aaG>aaC p.K190N RBM47_ENST00000514014.1_Missense_Mutation_p.K152N|RBM47_ENST00000381795.6_Missense_Mutation_p.K190N|RBM47_ENST00000381793.2_Missense_Mutation_p.K190N|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Missense_Mutation_p.K190N A0AV96 RBM47_HUMAN RNA binding motif protein 47 190 RRM 2. nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 GGTTCTTCATCTTGTCGGCCG 0.647000 22 71 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64599121 64599121 + Missense_Mutation SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr3:64599121C>G ENST00000498707.1 - 22 3596 c.3254G>C c.(3253-3255)cGa>cCa p.R1085P ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1057P NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 1085 TSP type-1 5. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) ATCATTTAATCGATCTTCACC 0.517000 14 64 0 0 1 0 0 IGKV2D-24 28885 broad.mit.edu 37 2 90044393 90044393 + RNA SNP C C A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr2:90044393C>A ENST00000462693.1 + 0 344 AGGGTGGAAGCTGAGGATGTC 0.512000 82 46 1.01459e-35 1.1148e-35 1 1 0 ARHGAP26 23092 broad.mit.edu 37 5 142500673 142500673 + Silent SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr5:142500673G>A ENST00000378004.3 + 18 2014 c.1659G>A c.(1657-1659)caG>caA p.Q553Q ARHGAP26_ENST00000274498.4_Silent_p.Q553Q NM_001135608.1 NP_001129080.1 Q9UNA1 RHG26_HUMAN Rho GTPase activating protein 26 553 Rho-GAP. actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCAAATTTCAGAACATTGTCA 0.433000 20 51 0 0 1 0 0 PDE2A 5138 broad.mit.edu 37 11 72293530 72293530 + Silent SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr11:72293530G>A ENST00000334456.5 - 21 2054 c.1809C>T c.(1807-1809)ttC>ttT p.F603F PDE2A_ENST00000376450.3_Silent_p.F347F|PDE2A_ENST00000418754.2_Silent_p.F488F|PDE2A_ENST00000540345.1_Silent_p.F594F|PDE2A_ENST00000444035.2_Silent_p.F594F|PDE2A_ENST00000544570.1_Silent_p.F596F NM_002599.4 NP_002590.1 O00408 PDE2A_HUMAN phosphodiesterase 2A, cGMP-stimulated 603 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) GGGTATAGGTGAAACTTGCAA 0.532000 25 23 0 0 1 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140718832 140718832 + Silent SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr5:140718832G>A ENST00000394576.2 + 1 294 c.294G>A c.(292-294)caG>caA p.Q98Q PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTGCGCTCAGAGCGCACCCT 0.498000 15 68 0 0 1 0 0 TEX2 55852 broad.mit.edu 37 17 62290103 62290103 + Missense_Mutation SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr17:62290103G>C ENST00000258991.3 - 2 1559 c.1475C>G c.(1474-1476)cCc>cGc p.P492R TEX2_ENST00000583097.1_Missense_Mutation_p.P492R|TEX2_ENST00000584379.1_Missense_Mutation_p.P492R Q8IWB9 TEX2_HUMAN testis expressed 2 492 signal transduction|sphingolipid metabolic process integral to membrane breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) CACATAGTGGGGGAGGGGGAG 0.498000 31 45 0 0 1 0 0 PHKA1 5255 broad.mit.edu 37 X 71843001 71843001 + Nonsense_Mutation SNP C C A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chrX:71843001C>A ENST00000373545.3 - 18 2356 c.1918G>T c.(1918-1920)Gaa>Taa p.E640* PHKA1_ENST00000541944.1_Nonsense_Mutation_p.E640*|PHKA1_ENST00000373539.3_Nonsense_Mutation_p.E640*|PHKA1_ENST00000339490.3_Nonsense_Mutation_p.E640*|PHKA1_ENST00000373542.4_Nonsense_Mutation_p.E640* P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) 640 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) TTGCCAGATTCCAGGTAATCA 0.418000 31 3 5.09552e-08 5.31966e-08 1 1 0 IL10RA 3587 broad.mit.edu 37 11 117864018 117864018 + Nonsense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr11:117864018C>T ENST00000227752.3 + 4 550 c.430C>T c.(430-432)Cag>Tag p.Q144* IL10RA_ENST00000545409.1_5'UTR|IL10RA_ENST00000541785.1_Nonsense_Mutation_p.Q124*|IL10RA_ENST00000533700.1_3'UTR NM_001558.3 NP_001549.2 Q13651 I10R1_HUMAN interleukin 10 receptor, alpha 144 integral to membrane|plasma membrane interleukin-10 receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108) CGGGAAGATTCAGCTACCCAG 0.512000 24 43 0 0 1 0 0 KDM2B 84678 broad.mit.edu 37 12 121880471 121880471 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr12:121880471C>T ENST00000377069.4 - 18 2972 c.2566G>A c.(2566-2568)Gag>Aag p.E856K KDM2B_ENST00000377071.4_Missense_Mutation_p.E925K|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.E293K NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 925 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 TCCGGGCCCTCGGCCCCTTCG 0.677000 12 11 0 0 1 0 0 SETD5 55209 broad.mit.edu 37 3 9514978 9514978 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr3:9514978G>A ENST00000402466.1 + 21 3728 c.2960G>A c.(2959-2961)gGg>gAg p.G987E SETD5_ENST00000402198.1_Missense_Mutation_p.G1085E|SETD5_ENST00000302463.6_Missense_Mutation_p.G987E|SETD5_ENST00000406341.1_Missense_Mutation_p.G1085E|SETD5_ENST00000407969.1_Missense_Mutation_p.G1104E Q9C0A6 SETD5_HUMAN SET domain containing 5 1085 NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) TCTGCTGGTGGGGGAGGTGAC 0.498000 26 39 0 0 1 0 0 NEDD1 121441 broad.mit.edu 37 12 97334267 97334267 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr12:97334267G>A ENST00000266742.4 + 10 1537 c.1198G>A c.(1198-1200)Gat>Aat p.D400N NEDD1_ENST00000411739.2_Missense_Mutation_p.D311N|NEDD1_ENST00000557644.1_Missense_Mutation_p.D407N|NEDD1_ENST00000429527.2_Missense_Mutation_p.D400N|NEDD1_ENST00000457368.2_Missense_Mutation_p.D311N NM_152905.3 NP_690869.1 Q8NHV4 NEDD1_HUMAN neural precursor cell expressed, developmentally down-regulated 1 400 cell division|G2/M transition of mitotic cell cycle|mitosis cytosol breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8) 22 CAGCTTTGATGATACTGGGAA 0.363000 24 39 0 0 1 0 0 ITGAV 3685 broad.mit.edu 37 2 187540556 187540556 + Nonsense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr2:187540556C>T ENST00000261023.3 + 28 3104 c.2830C>T c.(2830-2832)Cag>Tag p.Q944* ITGAV_ENST00000433736.2_Nonsense_Mutation_p.Q898*|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Nonsense_Mutation_p.Q908* NM_002210.3 NP_002201 P06756 ITAV_HUMAN integrin, alpha V 944 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) GAAAGAAAATCAGAATCATTC 0.343000 6 23 0 0 1 0 0 SLC6A4 6532 broad.mit.edu 37 17 28545313 28545313 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr17:28545313G>A ENST00000401766.2 - 4 1033 c.521C>T c.(520-522)tCc>tTc p.S174F SLC6A4_ENST00000261707.3_Missense_Mutation_p.S174F P31645 SC6A4_HUMAN solute carrier family 6 (neurotransmitter transporter), member 4 174 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4) 25 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) GTTGTAGTAGGAAGCAATGTA 0.547000 11 19 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971036 21971036 + Missense_Mutation SNP C C T rs121913381 TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr9:21971036C>T ENST00000579755.1 - 2 657 c.365G>A c.(364-366)cGa>cAa p.R122Q CDKN2A_ENST00000579122.1_Missense_Mutation_p.D108N|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D108N|CDKN2A_ENST00000304494.5_Missense_Mutation_p.D108N|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D57N|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R163Q|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D57N|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D57N|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D57N|CDKN2A_ENST00000530628.2_Missense_Mutation_p.R122Q|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D57N|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D108N P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 138 G -> R (in CMM2).|G -> S (in a biliary tract tumor). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.D108Y(18)|p.D108N(7)|p.D108H(7)|p.R163L(3)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.R163Q(1)|p.A68fs*3(1)|p.R107fs*33(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CCCCAGGCATCGCGCACGTCC 0.741000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 10 16 0 0 1 0 0 DAZAP1 26528 broad.mit.edu 37 19 1434778 1434778 + Nonsense_Mutation SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr19:1434778C>G ENST00000233078.4 + 12 1252 c.1091C>G c.(1090-1092)tCa>tGa p.S364* DAZAP1_ENST00000336761.6_3'UTR NM_018959.2 NP_061832.2 Q96EP5 DAZP1_HUMAN DAZ associated protein 1 364 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleotide binding|RNA binding breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAGGGCTTCTCAGACCCCAGC 0.706000 31 4 0 0 1 0 0 GRIA1 2890 broad.mit.edu 37 5 153054212 153054212 + Missense_Mutation SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr5:153054212G>C ENST00000285900.5 + 6 1195 c.852G>C c.(850-852)aaG>aaC p.K284N GRIA1_ENST00000448073.4_Missense_Mutation_p.K294N|GRIA1_ENST00000521843.2_Missense_Mutation_p.K215N|GRIA1_ENST00000518142.1_Missense_Mutation_p.K204N|GRIA1_ENST00000518783.1_Missense_Mutation_p.K294N|GRIA1_ENST00000340592.5_Missense_Mutation_p.K284N NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 284 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TGGACTGGAAGAGACCCAAGG 0.537000 10 23 0 0 1 0 0 CNGB1 1258 broad.mit.edu 37 16 57931375 57931375 + Silent SNP G G T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr16:57931375G>T ENST00000564448.1 - 31 3210 c.3150C>A c.(3148-3150)atC>atA p.I1050I CNGB1_ENST00000251102.8_Silent_p.I1056I Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 1056 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 TCTTATCCAGGATGAAGAGGT 0.527000 18 24 3.32936e-07 3.4455e-07 1 1 0 SVEP1 79987 broad.mit.edu 37 9 113166794 113166794 + Missense_Mutation SNP G G T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr9:113166794G>T ENST00000401783.2 - 39 9815 c.9479C>A c.(9478-9480)aCa>aAa p.T3160K SVEP1_ENST00000297826.5_Missense_Mutation_p.T1086K|SVEP1_ENST00000374469.1_Missense_Mutation_p.T3137K NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 3160 Sushi 29. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 ACAGGTGAATGTATCTGTATC 0.393000 79 138 4.34595e-34 4.76049e-34 1 1 0 ABCC4 10257 broad.mit.edu 37 13 95727734 95727734 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr13:95727734C>T ENST00000376887.4 - 22 2872 c.2758G>A c.(2758-2760)Gaa>Aaa p.E920K ABCC4_ENST00000412704.1_Missense_Mutation_p.E873K NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 920 ABC transmembrane type-1 2. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) CACCTCTCTTCTGCTTTGTAT 0.473000 26 63 0 0 1 0 0 STAG1 10274 broad.mit.edu 37 3 136078117 136078117 + Missense_Mutation SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr3:136078117C>G ENST00000383202.2 - 27 3065 c.2809G>C c.(2809-2811)Gag>Cag p.E937Q STAG1_ENST00000236698.5_Missense_Mutation_p.E937Q|STAG1_ENST00000434713.2_Missense_Mutation_p.E677Q|STAG1_ENST00000536929.1_Missense_Mutation_p.E521Q NM_005862.2 NP_005853.2 Q8WVM7 STAG1_HUMAN stromal antigen 1 937 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 GGACCTTGCTCTTGAACAAGT 0.353000 20 22 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140590502 140590502 + Nonsense_Mutation SNP G G T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr5:140590502G>T ENST00000239450.2 + 1 2212 c.2023G>T c.(2023-2025)Gag>Tag p.E675* PCDHB12_ENST00000541609.1_Nonsense_Mutation_p.E338* NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 675 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCTCTCCCGGAGGCGGCCCC 0.687000 71 41 4.81439e-37 5.30627e-37 1 1 0 ADD3 120 broad.mit.edu 37 10 111878402 111878402 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr10:111878402G>A ENST00000277900.8 + 6 990 c.625G>A c.(625-627)Gac>Aac p.D209N ADD3_ENST00000360162.3_Missense_Mutation_p.D209N|ADD3_ENST00000356080.4_Missense_Mutation_p.D209N NM_001121.2 NP_001112.2 Q9UEY8 ADDG_HUMAN adducin 3 (gamma) 209 cytoskeleton actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 29 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742) TTTGAAAATTGACCATACAGG 0.393000 40 31 0 0 1 0 0 RHOBTB1 9886 broad.mit.edu 37 10 62634778 62634778 + Silent SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr10:62634778C>T ENST00000337910.5 - 9 2086 c.1749G>A c.(1747-1749)ttG>ttA p.L583L RHOBTB1_ENST00000357917.4_Silent_p.L583L|RHOBTB1_ENST00000490827.1_5'UTR NM_001242359.1|NM_014836.4 NP_001229288.1|NP_055651.1 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 583 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 Prostate(12;0.0112) CGGCTTTGGTCAACTCCTGAA 0.532000 11 34 0 0 1 0 0 LYL1 4066 broad.mit.edu 37 19 13211529 13211529 + Silent SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr19:13211529G>A ENST00000264824.4 - 3 729 c.369C>T c.(367-369)atC>atT p.I123I NM_005583.4 NP_005574.2 P12980 LYL1_HUMAN lymphoblastic leukemia derived sequence 1 123 B cell differentiation|blood vessel maturation|definitive hemopoiesis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding cervix(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1) 7 OV - Ovarian serous cystadenocarcinoma(19;6.08e-22) TGCTAGGGAAGATGCTAAAAG 0.582000 T TRB@ T-ALL 22 72 0 0 1 0 0 GLYR1 84656 broad.mit.edu 37 16 4871444 4871444 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr16:4871444G>A ENST00000321919.9 - 9 819 c.743C>T c.(742-744)tCc>tTc p.S248F GLYR1_ENST00000436648.5_Missense_Mutation_p.S167F|GLYR1_ENST00000381983.3_Missense_Mutation_p.S231F|GLYR1_ENST00000591451.1_Missense_Mutation_p.S248F NM_032569.3 NP_115958 Q49A26 GLYR1_HUMAN glyoxylate reductase 1 homolog (Arabidopsis) 248 pentose-phosphate shunt nucleus coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 19 GATGGAGGTGGAGCCAGTTTC 0.527000 17 33 0 0 1 0 0 SCUBE3 222663 broad.mit.edu 37 6 35199542 35199542 + Missense_Mutation SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr6:35199542G>C ENST00000274938.7 + 4 375 c.375G>C c.(373-375)caG>caC p.Q125H SCUBE3_ENST00000394681.1_Missense_Mutation_p.Q125H NM_152753.2 NP_689966.2 Q8IX30 SCUB3_HUMAN signal peptide, CUB domain, EGF-like 3 125 EGF-like 3; calcium-binding (Potential). protein heterooligomerization|protein homooligomerization cell surface|extracellular region calcium ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 37 GCTGTCAGCAGAGCTGTGTCA 0.592000 14 23 0 0 1 0 0 STAC3 246329 broad.mit.edu 37 12 57642566 57642566 + Missense_Mutation SNP G G A rs146313451 TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr12:57642566G>A ENST00000332782.2 - 4 556 c.355C>T c.(355-357)Cgc>Tgc p.R119C STAC3_ENST00000554578.1_Missense_Mutation_p.R80C|STAC3_ENST00000546246.2_Intron NM_145064.1 NP_659501.1 Q96MF2 STAC3_HUMAN SH3 and cysteine rich domain 3 119 intracellular signal transduction identical protein binding|metal ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1) 18 TTCTTACAGCGAAGCCCAAAC 0.468000 86 148 0 0 1 0 0 DNAJA4 55466 broad.mit.edu 37 15 78572689 78572689 + Missense_Mutation SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr15:78572689C>G ENST00000394855.3 + 8 1396 c.1168C>G c.(1168-1170)Cag>Gag p.Q390E DNAJA4_ENST00000394852.3_Missense_Mutation_p.Q361E|DNAJA4_ENST00000446172.2_Missense_Mutation_p.Q334E|DNAJA4_ENST00000343789.3_Missense_Mutation_p.Q361E NM_018602.3 NP_061072.3 Q8WW22 DNJA4_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 4 361 protein folding|response to heat membrane ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 8 TGACATGGATCAGGTGGAGCT 0.527000 35 3 0 0 1 0 0 SLC45A1 50651 broad.mit.edu 37 1 8384632 8384632 + Missense_Mutation SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr1:8384632G>C ENST00000471889.1 + 2 628 c.243G>C c.(241-243)caG>caC p.Q81H SLC45A1_ENST00000377479.2_Missense_Mutation_p.Q115H|SLC45A1_ENST00000289877.8_Missense_Mutation_p.Q81H Q9Y2W3 S45A1_HUMAN solute carrier family 45, member 1 81 carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2) 33 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) TGCACCCCCAGAGGTCCTTCC 0.642000 5 12 0 0 1 0 0 NFXL1 152518 broad.mit.edu 37 4 47887618 47887618 + Missense_Mutation SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr4:47887618G>C ENST00000507489.1 - 14 1897 c.1721C>G c.(1720-1722)tCt>tGt p.S574C NFXL1_ENST00000329043.3_Missense_Mutation_p.S574C|NFXL1_ENST00000381538.3_Missense_Mutation_p.S574C NM_001278624.1 NP_001265553.1 Q6ZNB6 NFXL1_HUMAN nuclear transcription factor, X-box binding-like 1 574 integral to membrane|nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4) 27 TGGTGGACAAGAACCAAAGTG 0.383000 15 48 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578513 7578513 + Missense_Mutation SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr17:7578513C>G ENST00000420246.2 - 5 549 c.417G>C c.(415-417)aaG>aaC p.K139N TP53_ENST00000455263.2_Missense_Mutation_p.K139N|TP53_ENST00000359597.4_Missense_Mutation_p.K139N|TP53_ENST00000413465.2_Missense_Mutation_p.K139N|TP53_ENST00000445888.2_Missense_Mutation_p.K139N|TP53_ENST00000269305.4_Missense_Mutation_p.K139N NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 139 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. K -> E (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.K139N(9)|p.0?(8)|p.K139K(7)|p.A138_P142delAKTCP(4)|p.C135fs*9(3)|p.K139_T140delKT(3)|p.N131fs*27(2)|p.L137_W146del10(1)|p.K139fs*9(1)|p.K46_T47delKT(1)|p.F134_T140>S(1)|p.A45_P49delAKTCP(1)|p.K7_T8delKT(1)|p.C3fs*9(1)|p.A6_P10delAKTCP(1)|p.A138_V143delAKTCPV(1)|p.K139fs*10(1)|p.K139fs*4(1)|p.C42fs*9(1)|p.Q136_K139delQLAK(1)|p.K139_C141>N(1)|p.C135_T140delCQLAKT(1)|p.K139fs*29(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) CAGGGCAGGTCTTGGCCAGTT 0.567000 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) 18 4 0 0 1 0 0 CEP350 9857 broad.mit.edu 37 1 179985015 179985015 + Missense_Mutation SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr1:179985015C>G ENST00000367607.3 + 11 2502 c.2084C>G c.(2083-2085)tCt>tGt p.S695C NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 695 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 TCTGGAGAATCTGACAAAGAA 0.433000 13 17 0 0 1 0 0 LMAN1 3998 broad.mit.edu 37 18 57000376 57000376 + Missense_Mutation SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr18:57000376C>G ENST00000251047.5 - 11 2038 c.1321G>C c.(1321-1323)Gag>Cag p.E441Q NM_005570.3 NP_005561.1 P49257 LMAN1_HUMAN lectin, mannose-binding, 1 441 blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane mannose binding|metal ion binding|unfolded protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Colorectal(73;0.0946) Antihemophilic Factor(DB00025) TGCAGGTGCTCTTTGATGTCA 0.418000 35 30 0 0 1 0 0 KLHL35 283212 broad.mit.edu 37 11 75133737 75133737 + Missense_Mutation SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr11:75133737C>G ENST00000539798.1 - 6 1638 c.1639G>C c.(1639-1641)Gat>Cat p.D547H KLHL35_ENST00000376292.4_Missense_Mutation_p.D327H NM_001039548.2 NP_001034637.2 Q6PF15 KLH35_HUMAN kelch-like family member 35 327 lung(2)|stomach(1) 3 AAGACCTTATCGGTGCTTTCT 0.592000 19 45 0 0 1 0 0 CLCN2 1181 broad.mit.edu 37 3 184064408 184064408 + Missense_Mutation SNP C C T rs150751460 byFrequency TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr3:184064408C>T ENST00000265593.4 - 24 2854 c.2683G>A c.(2683-2685)Gac>Aac p.D895N CLCN2_ENST00000344937.7_Missense_Mutation_p.D878N|CLCN2_ENST00000423355.2_3'UTR|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000457512.1_Missense_Mutation_p.D866N|CLCN2_ENST00000434054.2_Missense_Mutation_p.D851N NM_004366.5 NP_004357.3 P51788 CLCN2_HUMAN chloride channel, voltage-sensitive 2 895 chloride channel complex voltage-gated chloride channel activity breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) TGGCATTTGTCGTCGCTGTCG 0.627000 10 32 0 0 1 0 0 PRMT8 56341 broad.mit.edu 37 12 3649871 3649871 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr12:3649871G>A ENST00000382622.3 + 2 565 c.175G>A c.(175-177)Ggc>Agc p.G59S PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.G50S NM_019854.4 NP_062828.3 Q9NR22 ANM8_HUMAN protein arginine methyltransferase 8 59 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) CCCAGGACGGGGCAAGATGTC 0.597000 29 141 0 0 1 0 0 IDH3B 3420 broad.mit.edu 37 20 2639120 2639120 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr20:2639120C>T ENST00000380851.5 - 12 1150 c.1120G>A c.(1120-1122)Gag>Aag p.E374K IDH3B_ENST00000380843.4_3'UTR|IDH3B_ENST00000488299.1_5'UTR NM_001258384.1|NM_174855.2 NP_001245313.1|NP_777280.1 O43837 IDH3B_HUMAN isocitrate dehydrogenase 3 (NAD+) beta 374 isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1) 14 NADH(DB00157) ATGACAGCCTCAGTGAAGTCA 0.478000 11 12 0 0 1 0 0 MYO1A 4640 broad.mit.edu 37 12 57423252 57423252 + Silent SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr12:57423252G>C ENST00000442789.2 - 27 3131 c.2844C>G c.(2842-2844)ctC>ctG p.L948L MYO1A_ENST00000300119.3_Silent_p.L948L|MYO1A_ENST00000544473.1_Silent_p.L786L NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 948 sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 GCCCATCCTTGAGGCTGGTGA 0.557000 49 70 0 0 1 0 0 GRAMD4 23151 broad.mit.edu 37 22 47062746 47062746 + Silent SNP C C A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr22:47062746C>A ENST00000406902.1 + 10 1047 c.834C>A c.(832-834)atC>atA p.I278I GRAMD4_ENST00000361034.3_Silent_p.I278I Q6IC98 GRAM4_HUMAN GRAM domain containing 4 278 apoptosis integral to membrane|mitochondrial membrane breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 12 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166) AGTGGAGCATCGTGCCCGAAG 0.617000 23 30 2.41591e-17 2.59056e-17 1 1 0 CASP1 834 broad.mit.edu 37 11 104901142 104901142 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr11:104901142C>T ENST00000533400.1 - 5 577 c.542G>A c.(541-543)gGa>gAa p.G181E CASP1_ENST00000531166.1_Intron|CASP1_ENST00000436863.3_Missense_Mutation_p.G181E|CASP1_ENST00000594519.1_Missense_Mutation_p.G88E|CASP1_ENST00000598974.1_Missense_Mutation_p.G181E|CASP1_ENST00000446369.1_Missense_Mutation_p.G88E|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000393136.4_Missense_Mutation_p.G160E|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000534497.1_Missense_Mutation_p.G88E|CASP1_ENST00000527979.1_Missense_Mutation_p.G144E|CASP1_ENST00000526568.1_Missense_Mutation_p.G88E|CASP1_ENST00000525825.1_Missense_Mutation_p.G160E|CASP1_ENST00000528974.1_Missense_Mutation_p.G142E|CASP1_ENST00000593315.1_Missense_Mutation_p.G160E NM_001257118.1 NP_001244047.1 P29466 CASP1_HUMAN caspase 1, apoptosis-related cysteine peptidase 181 cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction cytosol caspase activator activity|cysteine-type endopeptidase activity|protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482) Minocycline(DB01017)|Penicillamine(DB00859) AACCTCAGCTCCAGTTCTTCT 0.403000 52 29 0 0 1 0 0 EHMT1 79813 broad.mit.edu 37 9 140652431 140652431 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr9:140652431G>A ENST00000460843.1 + 9 1496 c.1469G>A c.(1468-1470)cGa>cAa p.R490Q EHMT1_ENST00000462484.1_Missense_Mutation_p.R490Q|EHMT1_ENST00000334856.6_Missense_Mutation_p.R459Q|EHMT1_ENST00000371394.2_3'UTR NM_024757.4 NP_079033.4 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 490 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) CTGGATCTCCGAGTCAAAGGA 0.522000 64 44 0 0 1 0 0 SETX 23064 broad.mit.edu 37 9 135153600 135153600 + Silent SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr9:135153600G>A ENST00000372169.2 - 21 6881 c.6699C>T c.(6697-6699)ttC>ttT p.F2233F SETX_ENST00000393220.1_Silent_p.F2233F|SETX_ENST00000224140.5_Silent_p.F2233F Q7Z333 SETX_HUMAN senataxin 2233 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) GCAGTCTGCAGAAGCGAGCCA 0.458000 36 87 0 0 1 0 0 PTH2R 5746 broad.mit.edu 37 2 209309531 209309531 + Missense_Mutation SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr2:209309531G>C ENST00000272847.2 + 7 985 c.772G>C c.(772-774)Ggt>Cgt p.G258R PTH2R_ENST00000413482.1_3'UTR NM_005048.2 NP_005039.1 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor 258 integral to plasma membrane parathyroid hormone receptor activity breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) CCTGGTGGAAGGTCTCTACCT 0.393000 5 133 0 0 1 0 0 ACVR1 90 broad.mit.edu 37 2 158622616 158622616 + Missense_Mutation SNP G G T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr2:158622616G>T ENST00000263640.3 - 8 1312 c.883C>A c.(883-885)Ctt>Att p.L295I ACVR1_ENST00000410057.2_Missense_Mutation_p.L295I|ACVR1_ENST00000434821.1_Missense_Mutation_p.L295I|ACVR1_ENST00000409283.2_Missense_Mutation_p.L295I NM_001105.4 NP_001096.1 Q04771 ACVR1_HUMAN activin A receptor, type I 295 Protein kinase. BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway activin receptor complex activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2) 19 BRCA - Breast invasive adenocarcinoma(221;0.104) Adenosine triphosphate(DB00171) GTAAGCTGAAGATAGTCGTAC 0.438000 22 23 1.10923e-09 1.17177e-09 1 1 0 SLC9A7P1 121456 broad.mit.edu 37 12 98849649 98849649 + RNA SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr12:98849649G>A ENST00000554295.1 - 0 1274 NR_033801.1 AGGAGAAGATGAAGTTCTCTG 0.468000 40 40 0 0 1 0 0 LILRA2 11027 broad.mit.edu 37 19 55087518 55087518 + Silent SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr19:55087518C>G ENST00000251377.3 + 7 1330 c.1197C>G c.(1195-1197)ctC>ctG p.L399L LILRA2_ENST00000391737.1_Silent_p.L387L|LILRA2_ENST00000251376.3_Silent_p.L399L|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Silent_p.L399L|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) ACAGCTCACTCAGCTCCAACC 0.592000 38 51 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103130252 103130252 + Missense_Mutation SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr7:103130252G>C ENST00000428762.1 - 60 9859 c.9700C>G c.(9700-9702)Ctc>Gtc p.L3234V RELN_ENST00000343529.5_Missense_Mutation_p.L3234V|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.L3234V NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 3234 EGF-like 8. axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CCGCTGCAGAGCTTGGGGCAA 0.547000 27 18 0 0 1 0 0 ADD3 120 broad.mit.edu 37 10 111883999 111883999 + Silent SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr10:111883999G>A ENST00000277900.8 + 10 1733 c.1368G>A c.(1366-1368)cgG>cgA p.R456R ADD3_ENST00000360162.3_Silent_p.R456R|ADD3_ENST00000356080.4_Silent_p.R456R NM_001121.2 NP_001112.2 Q9UEY8 ADDG_HUMAN adducin 3 (gamma) 456 cytoskeleton actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 29 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742) AGGAGTCTCGGAACGGAGAAA 0.413000 30 33 0 0 1 0 0 SACM1L 22908 broad.mit.edu 37 3 45785138 45785138 + Missense_Mutation SNP G G T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr3:45785138G>T ENST00000389061.5 + 20 1945 c.1741G>T c.(1741-1743)Gtc>Ttc p.V581F SACM1L_ENST00000418611.1_Missense_Mutation_p.V478F|SACM1L_ENST00000541314.1_Missense_Mutation_p.V520F NM_014016.3 NP_054735.3 Q9NTJ5 SAC1_HUMAN SAC1 suppressor of actin mutations 1-like (yeast) 581 Golgi apparatus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277) TCCCAGACTGGTCCAGAAAGA 0.428000 72 33 1.12115e-39 1.23954e-39 1 1 0 IGSF3 3321 broad.mit.edu 37 1 117158893 117158893 + Missense_Mutation SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr1:117158893G>C ENST00000369486.3 - 3 995 c.230C>G c.(229-231)tCt>tGt p.S77C IGSF3_ENST00000369483.1_Missense_Mutation_p.S77C|IGSF3_ENST00000318837.6_Missense_Mutation_p.S77C NM_001007237.1 NP_001007238.1 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 77 Ig-like C2-type 1. integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) GGGGAAGGAAGAGTCCATGGT 0.542000 17 18 0 0 1 0 0 SYT10 341359 broad.mit.edu 37 12 33560254 33560254 + Missense_Mutation SNP G G T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr12:33560254G>T ENST00000228567.3 - 3 843 c.547C>A c.(547-549)Cag>Aag p.Q183K SYT10_ENST00000535526.1_Missense_Mutation_p.Q2K NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 183 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) CTGGAAACCTGCATTTGCCTC 0.428000 51 67 5.57489e-27 6.0693e-27 1 1 0 MCM3AP 8888 broad.mit.edu 37 21 47666262 47666262 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr21:47666262C>T ENST00000397708.1 - 23 4860 c.4606G>A c.(4606-4608)Gag>Aag p.E1536K MCM3AP_ENST00000291688.1_Missense_Mutation_p.E1536K|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000467026.1_5'UTR O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 1536 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) TCAGGGATCTCGGTAACAGTG 0.383000 21 25 0 0 1 0 0 ZBTB16 7704 broad.mit.edu 37 11 113934475 113934475 + Silent SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr11:113934475G>A ENST00000335953.4 + 2 833 c.453G>A c.(451-453)cgG>cgA p.R151R ZBTB16_ENST00000392996.2_Silent_p.R151R NM_006006.4 NP_005997.2 Q05516 ZBT16_HUMAN zinc finger and BTB domain containing 16 151 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2) 6 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) GCAAGGCTCGGTACCTCAAGA 0.612000 7 20 0 0 1 0 0 TSPEAR 54084 broad.mit.edu 37 21 45947229 45947229 + Silent SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr21:45947229C>T ENST00000323084.4 - 7 1160 c.1095G>A c.(1093-1095)caG>caA p.Q365Q TSPEAR_ENST00000397916.1_Silent_p.Q297Q NM_001272037.1|NM_144991.2 NP_001258966.1|NP_659428.2 Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats 365 cell adhesion extracellular region structural molecule activity breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 TGGGGATGTTCTGATATGAGA 0.537000 41 52 0 0 1 0 0 IGHA1 3493 broad.mit.edu 37 14 106174870 106174870 + RNA SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr14:106174870C>T ENST00000390547.2 - 0 132 ACGCCCTGTCCGCTTTCGCTC 0.657000 20 16 0 0 1 0 0 NPHP4 261734 broad.mit.edu 37 1 5934639 5934639 + Silent SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr1:5934639G>A ENST00000378156.4 - 22 3388 c.3123C>T c.(3121-3123)ttC>ttT p.F1041F NPHP4_ENST00000478423.2_5'UTR NM_015102.3 NP_055917.1 O75161 NPHP4_HUMAN nephronophthisis 4 1041 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4) 47 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) CACGCAGGTGGAACATGTCCT 0.662000 7 9 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152690261 152690261 + Splice_Site SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr6:152690261G>C ENST00000367255.5 - 61 10254 c.9653C>G c.(9652-9654)tCt>tGt p.S3218C SYNE1_ENST00000423061.1_Splice_Site_p.S3225C|SYNE1_ENST00000341594.5_Splice_Site_p.S3257C|SYNE1_ENST00000265368.4_Splice_Site_p.S3218C|SYNE1_ENST00000448038.1_Splice_Site_p.S3225C NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3218 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTCAAGGACAGACTGAAAAGC 0.512000 HNSCC(10;0.0054) 29 35 0 0 1 0 0 RILP 83547 broad.mit.edu 37 17 1550279 1550279 + Missense_Mutation SNP C C A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr17:1550279C>A ENST00000301336.6 - 7 1221 c.949G>T c.(949-951)Gat>Tat p.D317Y NM_031430.2 NP_113618.2 Q96NA2 RILP_HUMAN Rab interacting lysosomal protein 317 Necessary for the interaction with RAB7 and RAB34, lysosomal distribution and morphology. endosome to lysosome transport|protein transport late endosome membrane|lysosomal membrane|phagocytic vesicle membrane Rab GTPase binding endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4) 15 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CCAGCCTCATCCTCACTGAGA 0.582000 4 13 0.000602214 0.000612538 1 1 0 FAM89B 23625 broad.mit.edu 37 11 65340946 65340946 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr11:65340946C>T ENST00000316409.2 + 2 686 c.365C>T c.(364-366)tCa>tTa p.S122L FAM89B_ENST00000449319.2_Silent_p.V138V|FAM89B_ENST00000530349.1_Missense_Mutation_p.S135L NM_001098784.1|NM_001098785.1|NM_152832.2 NP_001092254.1|NP_001092255.1|NP_690045.1 Q8N5H3 FA89B_HUMAN family with sequence similarity 89, member B 122 large_intestine(1)|urinary_tract(2) 3 CAGGACCTGTCATCCTCCCTC 0.612000 22 8 0 0 1 0 0 HEXIM1 10614 broad.mit.edu 37 17 43227358 43227358 + Silent SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr17:43227358C>T ENST00000332499.2 + 1 2675 c.801C>T c.(799-801)ttC>ttT p.F267F NM_006460.2 NP_006451.1 O94992 HEXI1_HUMAN hexamethylene bis-acetamide inducible 1 267 negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 AGCGGGACTTCTCGGAGACGT 0.602000 30 21 0 0 1 0 0 EFNB3 1949 broad.mit.edu 37 17 7612893 7612893 + Silent SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr17:7612893G>A ENST00000226091.2 + 5 1419 c.1022G>A c.(1021-1023)tGa>tAa p.*341* NM_001406.3 NP_001397.1 Q15768 EFNB3_HUMAN ephrin-B3 0 cell-cell signaling|interspecies interaction between organisms integral to plasma membrane ephrin receptor binding|transmembrane-ephrin receptor activity large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 8 all_cancers(10;1.14e-06)|Prostate(122;0.081) TACAAGGTATGAGGGCTCCTC 0.552000 25 3 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49422719 49422719 + Nonsense_Mutation SNP A A T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr12:49422719A>T ENST00000301067.7 - 45 14273 c.14274T>A c.(14272-14274)taT>taA p.Y4758* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CAAGGGCCCCATAAGGTTTGG 0.547000 40 57 0 0 1 0 0 NTRK3 4916 broad.mit.edu 37 15 88678458 88678458 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr15:88678458C>T ENST00000394480.2 - 10 1399 c.1078G>A c.(1078-1080)Gag>Aag p.E360K NTRK3_ENST00000360948.2_Missense_Mutation_p.E360K|NTRK3_ENST00000557856.1_Missense_Mutation_p.E360K|NTRK3_ENST00000355254.2_Missense_Mutation_p.E360K|NTRK3_ENST00000540489.2_Missense_Mutation_p.E360K|NTRK3_ENST00000357724.2_Missense_Mutation_p.E360K|NTRK3_ENST00000317501.3_Missense_Mutation_p.E360K|NTRK3_ENST00000558676.1_Missense_Mutation_p.E360K|NTRK3_ENST00000542733.2_Missense_Mutation_p.E262K NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 Ig-like C2-type 2. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) AGGCAGCCCTCGGAAATCTCT 0.552000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 49 8 0 0 1 0 0 KPNA2 3838 broad.mit.edu 37 17 66040130 66040130 + Missense_Mutation SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr17:66040130G>C ENST00000537025.2 + 8 1727 c.1107G>C c.(1105-1107)caG>caC p.Q369H KPNA2_ENST00000330459.3_Missense_Mutation_p.Q369H P52292 IMA2_HUMAN karyopherin alpha 2 (RAG cohort 1, importin alpha 1) 369 NLS binding site (minor) (By similarity). DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination cytoplasm|nuclear pore|nucleoplasm histone deacetylase binding|nuclear localization sequence binding|protein transporter activity breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2) 22 all_cancers(12;1.18e-09) BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) GCCAGGACCAGATACAGCAAG 0.448000 81 91 0 0 1 0 0 NETO1 81832 broad.mit.edu 37 18 70532050 70532050 + Silent SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr18:70532050G>A ENST00000327305.6 - 3 870 c.213C>T c.(211-213)atC>atT p.I71I NETO1_ENST00000397929.1_Silent_p.I70I|NETO1_ENST00000583169.1_Silent_p.I71I|NETO1_ENST00000299430.2_Silent_p.I70I|NETO1_ENST00000580049.1_5'UTR NM_138966.3 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 71 CUB 1. memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) TACCTTCTATGATGTAGATGC 0.468000 21 49 0 0 1 0 0 PLIN4 729359 broad.mit.edu 37 19 4512046 4512046 + Silent SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr19:4512046C>T ENST00000301286.3 - 3 1883 c.1884G>A c.(1882-1884)gtG>gtA p.V628V NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 628 27 X 33 AA approximate tandem repeat. lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 TGGCCACGTTCACGGCACTGG 0.552000 85 77 0 0 1 0 0 PDE10A 10846 broad.mit.edu 37 6 165806202 165806202 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr6:165806202G>A ENST00000366882.1 - 17 1713 c.1559C>T c.(1558-1560)gCg>gTg p.A520V PDE10A_ENST00000539869.2_Missense_Mutation_p.A530V|PDE10A_ENST00000354448.4_Missense_Mutation_p.A520V Q9Y233 PDE10_HUMAN phosphodiesterase 10A 520 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding p.A520V(1) breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) TACAGTGACCGCATGCTTCCA 0.438000 4 69 0 0 1 0 0 GAS8 2622 broad.mit.edu 37 16 90099231 90099231 + Missense_Mutation SNP C C T rs149848921 TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr16:90099231C>T ENST00000268699.4 + 4 516 c.394C>T c.(394-396)Cgc>Tgc p.R132C GAS8_ENST00000536122.1_Missense_Mutation_p.R107C|GAS8_ENST00000540721.1_3'UTR NM_001481.2 NP_001472.1 O95995 GAS8_HUMAN growth arrest-specific 8 132 Microtubule-binding. negative regulation of cell proliferation|sperm motility cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum protein binding endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.029) GAAAGAGCACCGCATACAGGA 0.557000 10 15 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13901514 13901514 + Silent SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr5:13901514G>A ENST00000265104.4 - 14 2003 c.1899C>T c.(1897-1899)ctC>ctT p.L633L NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 633 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCCTATGGAAGAGCTGGCGGG 0.498000 Kartagener syndrome 23 22 0 0 1 0 0 REG1P 5969 broad.mit.edu 37 2 79363860 79363860 + RNA SNP G G T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr2:79363860G>T ENST00000444841.1 - 0 478 TGAGGTGCCAGACATCAGACC 0.428000 3 6 0.115264 0.115589 1 1 0 AADACL2 344752 broad.mit.edu 37 3 151475212 151475212 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr3:151475212G>A ENST00000356517.3 + 5 1145 c.1036G>A c.(1036-1038)Gat>Aat p.D346N RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA NM_207365.3 NP_997248.2 Q6P093 ADCL2_HUMAN arylacetamide deacetylase-like 2 346 extracellular region|integral to membrane carboxylesterase activity NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2) 24 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) CTTAAGAGATGATGGACTTAT 0.373000 55 31 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78604229 78604229 + Missense_Mutation SNP A A T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr12:78604229A>T ENST00000397909.2 + 40 7263 c.7090A>T c.(7090-7092)Agc>Tgc p.S2364C NAV3_ENST00000541270.1_Missense_Mutation_p.S194C|NAV3_ENST00000228327.6_Missense_Mutation_p.S2342C|NAV3_ENST00000266692.7_Missense_Mutation_p.S2165C|NAV3_ENST00000536525.2_Missense_Mutation_p.S2342C Q8IVL0 NAV3_HUMAN neuron navigator 3 2364 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 GAGCACACAAAGCTGCGACAG 0.413000 HNSCC(70;0.22) 36 53 0 0 1 0 0 GPR63 81491 broad.mit.edu 37 6 97246651 97246651 + Silent SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr6:97246651G>C ENST00000229955.3 - 2 1302 c.957C>G c.(955-957)ctC>ctG p.L319L GPR63_ENST00000417980.1_Silent_p.L319L NM_001143957.2|NM_030784.3 NP_001137429.1|NP_110411.1 Q9BZJ6 GPR63_HUMAN G protein-coupled receptor 63 319 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0912) AGACAGCAAAGAGAATCAAAA 0.453000 21 21 0 0 1 0 0 BTBD10 84280 broad.mit.edu 37 11 13424777 13424777 + Missense_Mutation SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr11:13424777C>G ENST00000278174.5 - 8 1300 c.1055G>C c.(1054-1056)aGa>aCa p.R352T BTBD10_ENST00000530907.1_Missense_Mutation_p.R360T|BTBD10_ENST00000528120.1_Missense_Mutation_p.R304T NM_032320.5 NP_115696.2 Q9BSF8 BTBDA_HUMAN BTB (POZ) domain containing 10 352 nucleus cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1) 20 Epithelial(150;0.0214) GGCCACATCTCTGTTTTCAAT 0.254000 27 91 0 0 1 0 0 TMEM203 94107 broad.mit.edu 37 9 140099698 140099698 + Missense_Mutation SNP C C A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr9:140099698C>A ENST00000343666.5 - 1 392 c.169G>T c.(169-171)Gac>Tac p.D57Y TMEM203_ENST00000537254.1_Missense_Mutation_p.D57Y NM_053045.1 NP_444273.1 Q969S6 TM203_HUMAN transmembrane protein 203 57 integral to membrane central_nervous_system(1)|kidney(1) 2 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) CTGAGCCCGTCAGCGGCGAAG 0.627000 7 27 2.0095e-06 2.06758e-06 1 1 0 PTPN21 11099 broad.mit.edu 37 14 88945788 88945788 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr14:88945788C>T ENST00000556564.1 - 13 2271 c.1987G>A c.(1987-1989)Gag>Aag p.E663K PTPN21_ENST00000328736.3_Missense_Mutation_p.E663K NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 663 cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GGCGCCACCTCTGCCGCCGAC 0.706000 15 10 0 0 1 0 0 PTPRU 10076 broad.mit.edu 37 1 29609408 29609408 + Missense_Mutation SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr1:29609408G>C ENST00000373779.3 + 12 2218 c.2089G>C c.(2089-2091)Gag>Cag p.E697Q PTPRU_ENST00000460170.2_Missense_Mutation_p.E697Q|PTPRU_ENST00000428026.2_Missense_Mutation_p.E697Q|PTPRU_ENST00000323874.8_Missense_Mutation_p.E697Q|PTPRU_ENST00000345512.3_Missense_Mutation_p.E697Q|PTPRU_ENST00000356870.3_Missense_Mutation_p.E697Q|PTPRU_ENST00000415600.2_3'UTR NM_001195001.1|NM_133178.3 NP_001181930.1|NP_573439.2 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 697 canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) CCCACCACTTGAGCCTAGGAA 0.627000 30 51 0 0 1 0 0 FAM69B 138311 broad.mit.edu 37 9 139617888 139617888 + Missense_Mutation SNP G G T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr9:139617888G>T ENST00000371691.1 + 3 1796 c.697G>T c.(697-699)Gca>Tca p.A233S FAM69B_ENST00000371692.4_Missense_Mutation_p.A320S|SNHG7_ENST00000414282.1_RNA Q5VUD6 FA69B_HUMAN family with sequence similarity 69, member B 320 endoplasmic reticulum membrane|integral to membrane NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1) 8 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013) GCAGCAGGTGGCACCCGAGGC 0.662000 25 18 1.55469e-16 1.66208e-16 1 1 0 MUC4 4585 broad.mit.edu 37 3 195511900 195511900 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr3:195511900G>A ENST00000463781.3 - 2 7010 c.6551C>T c.(6550-6552)tCa>tTa p.S2184L MUC4_ENST00000475231.1_Missense_Mutation_p.S2184L|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 963 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGTGGATGCTGAGGAAGTGTC 0.592000 3 10 0 0 1 0 0 HLA-DMB 3109 broad.mit.edu 37 6 32905010 32905010 + Silent SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr6:32905010C>T ENST00000416244.2 - 3 755 c.561G>A c.(559-561)ggG>ggA p.G187G HLA-DMB_ENST00000418107.2_Silent_p.G187G P28068 DMB_HUMAN major histocompatibility complex, class II, DM beta 187 Beta-2.|Ig-like C1-type. 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 TGTAAGTGTCCCCGTAAGAGG 0.547000 37 27 0 0 1 0 0 LGR5 8549 broad.mit.edu 37 12 71966646 71966646 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr12:71966646G>A ENST00000266674.5 + 13 1464 c.1153G>A c.(1153-1155)Gaa>Aaa p.E385K LGR5_ENST00000540815.2_Missense_Mutation_p.E361K|LGR5_ENST00000536515.1_Missense_Mutation_p.E313K O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 385 integral to plasma membrane protein-hormone receptor activity NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 AAGACATAATGAAATCTACGA 0.413000 30 30 0 0 1 0 0 QRICH2 84074 broad.mit.edu 37 17 74287932 74287932 + Missense_Mutation SNP C C T rs151295247 TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr17:74287932C>T ENST00000262765.5 - 4 2557 c.2378G>A c.(2377-2379)cGt>cAt p.R793H NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 793 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 CACCAGACCACGTGGATATGT 0.498000 53 74 0 0 1 0 0 BAZ2B 29994 broad.mit.edu 37 2 160310286 160310286 + Nonsense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr2:160310286G>A ENST00000392783.2 - 4 667 c.172C>T c.(172-174)Caa>Taa p.Q58* BAZ2B_ENST00000392782.1_Nonsense_Mutation_p.Q58*|BAZ2B_ENST00000355831.2_Nonsense_Mutation_p.Q58*|BAZ2B_ENST00000343439.5_Nonsense_Mutation_p.Q58* NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 58 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 TTAAACGGTTGATCCCCAGCT 0.433000 15 11 0 0 1 0 0 NUDC 10726 broad.mit.edu 37 1 27267978 27267978 + Nonsense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr1:27267978C>T ENST00000321265.5 + 3 313 c.190C>T c.(190-192)Cag>Tag p.Q64* NM_006600.3 NP_006591.1 Q9Y266 NUDC_HUMAN nudC nuclear distribution protein 64 cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development cytosol|microtubule|nucleoplasm protein binding cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1) 8 UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421) CCACCACAATCAGCTGGCACA 0.642000 4 8 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72832607 72832607 + Nonsense_Mutation SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr16:72832607G>C ENST00000268489.5 - 9 4646 c.3974C>G c.(3973-3975)tCa>tGa p.S1325* ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.S411* NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 1325 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) CAGATCCTCTGAGGTTTCTGT 0.458000 18 10 0 0 1 0 0 ADAR 103 broad.mit.edu 37 1 154574831 154574831 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr1:154574831C>T ENST00000368474.4 - 2 486 c.287G>A c.(286-288)gGc>gAc p.G96D ADAR_ENST00000292205.5_Missense_Mutation_p.G139D|ADAR_ENST00000471068.1_5'UTR|ADAR_ENST00000368471.3_5'UTR NM_001111.4|NM_015840.3|NM_015841.3 NP_001102|NP_056655.2|NP_056656.2 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific 96 adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2) 51 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) GAGATGCACGCCCCTGGGGAC 0.587000 116 33 0 0 1 0 0 IRF9 10379 broad.mit.edu 37 14 24624500 24624500 + Missense_Mutation SNP C C A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr14:24624500C>A ENST00000558468.1 + 4 690 c.690C>A c.(688-690)gaC>gaA p.D230E RNF31_ENST00000382687.3_Missense_Mutation_p.D604E|RNF31_ENST00000559275.1_Missense_Mutation_p.D604E|RNF31_ENST00000324103.6_Missense_Mutation_p.D755E TCACCGATGACACACAGTTGC 0.587000 10 46 1.76689e-08 1.85004e-08 1 1 0 MTOR 2475 broad.mit.edu 37 1 11187854 11187854 + Missense_Mutation SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr1:11187854C>G ENST00000361445.4 - 44 6119 c.6043G>C c.(6043-6045)Gag>Cag p.E2015Q MTOR_ENST00000376838.1_Missense_Mutation_p.E220Q NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 2015 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 CGGATCAGCTCCTCGCTCACC 0.498000 72 80 0 0 1 0 0 UGT1A9 54600 broad.mit.edu 37 2 234581254 234581254 + Missense_Mutation SNP A A G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr2:234581254A>G ENST00000354728.4 + 1 756 c.674A>G c.(673-675)aAa>aGa p.K225R UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A1_ENST00000609637.1_Missense_Mutation_p.K225R breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 37 Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128) Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757) CGTTTTTTCAAAAATGCCCTA 0.418000 136 88 0 0 1 0 0 STAG3 10734 broad.mit.edu 37 7 99809157 99809157 + Silent SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr7:99809157G>A ENST00000426455.1 + 31 3917 c.3510G>A c.(3508-3510)ctG>ctA p.L1170L STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Silent_p.L1170L|STAG3_ENST00000394018.2_Silent_p.L1112L|GATS_ENST00000436886.2_Intron NM_001282716.1 NP_001269645.1 Q9UJ98 STAG3_HUMAN stromal antigen 3 1170 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCAACCAGCTGATGCGGTGAG 0.557000 73 41 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35793429 35793429 + Missense_Mutation SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr5:35793429G>C ENST00000440995.2 + 32 4708 c.4708G>C c.(4708-4710)Gag>Cag p.E1570Q SPEF2_ENST00000303129.4_Missense_Mutation_p.E372Q|SPEF2_ENST00000356031.3_Missense_Mutation_p.E1575Q|CTD-2113L7.1_ENST00000510433.1_RNA Q9C093 SPEF2_HUMAN sperm flagellar 2 1575 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CATCACTTTTGAGCAGTATAT 0.468000 29 42 0 0 1 0 0 PYGL 5836 broad.mit.edu 37 14 51382160 51382160 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr14:51382160C>T ENST00000216392.7 - 11 1629 c.1297G>A c.(1297-1299)Gaa>Aaa p.E433K PYGL_ENST00000532462.1_Missense_Mutation_p.E433K|PYGL_ENST00000544180.2_Missense_Mutation_p.E399K NM_002863.4 NP_002854.3 P06737 PYGL_HUMAN phosphorylase, glycogen, liver 433 glucose homeostasis|glucose metabolic process|glycogen catabolic process cytosol|soluble fraction AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3) 25 all_epithelial(31;0.00825)|Breast(41;0.148) Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140) CCTTCCTCTTCTATCAGAGAC 0.478000 30 52 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166168552 166168552 + Missense_Mutation SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr2:166168552G>C ENST00000357398.3 + 8 1278 c.988G>C c.(988-990)Gag>Cag p.E330Q SCN2A_ENST00000375427.2_Missense_Mutation_p.E330Q|SCN2A_ENST00000375437.2_Missense_Mutation_p.E330Q|SCN2A_ENST00000283256.6_Missense_Mutation_p.E330Q Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 330 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) TTATTTTTTAGAGGGGCAAAA 0.408000 15 29 0 0 1 0 0 BUB1 699 broad.mit.edu 37 2 111425132 111425132 + Silent SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr2:111425132C>T ENST00000535254.1 - 7 778 c.711G>A c.(709-711)caG>caA p.Q237Q BUB1_ENST00000302759.6_Silent_p.Q257Q|BUB1_ENST00000409311.1_Silent_p.Q257Q NM_001278616.1 NP_001265545.1 O43683 BUB1_HUMAN BUB1 mitotic checkpoint serine/threonine kinase 257 Necessary for interaction with BUB3. apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1) 45 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) GATTGTATTTCTGGGCTCTCA 0.368000 47 24 0 0 1 0 0 PLIN4 729359 broad.mit.edu 37 19 4510957 4510957 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr19:4510957C>T ENST00000301286.3 - 3 2972 c.2973G>A c.(2971-2973)atG>atA p.M991I NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 991 lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 TGGCCATGCTCATGGCACCGG 0.617000 20 17 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168108071 168108071 + Missense_Mutation SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr2:168108071C>G ENST00000409195.1 + 9 10258 c.10169C>G c.(10168-10170)tCt>tGt p.S3390C XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S3168C|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S3390C|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 3215 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ACAGACTTTTCTTGCAAACAT 0.393000 55 34 0 0 1 0 0 MAP3K11 4296 broad.mit.edu 37 11 65365763 65365763 + Nonstop_Mutation SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr11:65365763C>G ENST00000309100.3 - 10 3028 c.2543G>C c.(2542-2544)tGa>tCa p.*848S MAP3K11_ENST00000530153.1_Nonstop_Mutation_p.*591S|MAP3K11_ENST00000532507.1_Nonstop_Mutation_p.*264S NM_002419.3 NP_002410.1 Q16584 M3K11_HUMAN mitogen-activated protein kinase kinase kinase 11 0 activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation centrosome|microtubule ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1) 24 CTGGCCCACTCAAGGCCCCGC 0.667000 2 1 0 0 1 0 0 CLEC14A 161198 broad.mit.edu 37 14 38724400 38724400 + Silent SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr14:38724400G>A ENST00000342213.2 - 1 1174 c.828C>T c.(826-828)ggC>ggT p.G276G NM_175060.2 NP_778230.1 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 276 EGF-like. 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) CCAGCTCGAAGCCCGTAGCAC 0.672000 46 31 0 0 1 0 0 PCDHB16 57717 broad.mit.edu 37 5 140563928 140563928 + Missense_Mutation SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr5:140563928G>C ENST00000361016.2 + 1 2949 c.1794G>C c.(1792-1794)caG>caC p.Q598H NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 598 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACTCGGGCCAGAATGCCTGGC 0.711000 79 35 0 0 1 0 0 TKT 7086 broad.mit.edu 37 3 53269121 53269121 + Silent SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr3:53269121G>A ENST00000462138.1 - 5 595 c.507C>T c.(505-507)ttC>ttT p.F169F TKT_ENST00000423516.1_Silent_p.F177F|TKT_ENST00000423525.2_Silent_p.F169F|TKT_ENST00000296289.6_Silent_p.F122F P29401 TKT_HUMAN transketolase 169 energy reserve metabolic process|xylulose biosynthetic process cytosol protein binding|transketolase activity endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 Prostate(884;0.0959) BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201) Thiamine(DB00152) AGATGCTGGCGAAGGCCATGG 0.582000 64 25 0 0 1 0 0 DPP10 57628 broad.mit.edu 37 2 116257166 116257166 + Nonsense_Mutation SNP G G T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr2:116257166G>T ENST00000410059.1 + 4 832 c.352G>T c.(352-354)Gaa>Taa p.E118* DPP10_ENST00000409163.1_Nonsense_Mutation_p.E68*|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000310323.8_Nonsense_Mutation_p.E111*|DPP10_ENST00000393147.2_Nonsense_Mutation_p.E122* NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 118 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 ATTATTATTGGAAAACACAAC 0.303000 38 17 4.14481e-20 4.45786e-20 1 1 0 RLTPR 146206 broad.mit.edu 37 16 67685873 67685873 + Nonsense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr16:67685873C>T ENST00000334583.6 + 26 2966 c.2638C>T c.(2638-2640)Cag>Tag p.Q880* RLTPR_ENST00000545661.1_Nonsense_Mutation_p.Q844* NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 880 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) CATTGTGGCTCAGGCTTTGGC 0.582000 21 40 0 0 1 0 0 CTD-3074O7.11 0 broad.mit.edu 37 11 66291252 66291252 + Missense_Mutation SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr11:66291252G>C ENST00000419755.3 + 11 1198 c.1120G>C c.(1120-1122)Gag>Cag p.E374Q BBS1_ENST00000393994.2_Intron|BBS1_ENST00000529766.1_3'UTR|ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000455748.2_Missense_Mutation_p.E240Q|BBS1_ENST00000318312.7_Missense_Mutation_p.E337Q GAACCTCCTGGAGCAGCATTC 0.622000 11 13 0 0 1 0 0 MAFG 4097 broad.mit.edu 37 17 79880686 79880686 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr17:79880686G>A ENST00000357736.4 - 3 499 c.284C>T c.(283-285)tCa>tTa p.S95L MAFG_ENST00000392366.3_Missense_Mutation_p.S95L NM_002359.3|NM_032711.3 NP_002350.1|NP_116100.2 O15525 MAFG_HUMAN v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog G 95 Leucine-zipper. blood coagulation nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|lung(1) 3 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) GGCGTTCTCTGAGGCCAGCTT 0.687000 3 7 0 0 1 0 0 SLC25A21 89874 broad.mit.edu 37 14 37198766 37198766 + Silent SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr14:37198766G>A ENST00000331299.5 - 5 791 c.276C>T c.(274-276)ttC>ttT p.F92F SLC25A21_ENST00000555449.1_Silent_p.F92F NM_030631.3 NP_085134.1 Q9BQT8 ODC_HUMAN solute carrier family 25 (mitochondrial oxoadipate carrier), member 21 92 lysine catabolic process integral to membrane|mitochondrial inner membrane alpha-ketoglutarate transmembrane transporter activity|binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1) 9 Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213) Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149) GBM - Glioblastoma multiforme(112;0.00204) GCTCAAAGGTGAAAAACTGTG 0.313000 30 24 0 0 1 0 0 TRIM4 89122 broad.mit.edu 37 7 99507267 99507267 + Missense_Mutation SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr7:99507267G>C ENST00000355947.2 - 3 617 c.488C>G c.(487-489)tCt>tGt p.S163C TRIM4_ENST00000349062.2_Missense_Mutation_p.S137C|TRIM4_ENST00000354241.5_Missense_Mutation_p.S137C NM_033017.3 NP_148977.2 Q9C037 TRIM4_HUMAN tripartite motif containing 4 163 protein trimerization cytoplasm|plasma membrane zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1) 17 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Ovarian(593;0.238) ATTACGCTGAGACTTAAGAAG 0.393000 9 19 0 0 1 0 0 SF3B1 23451 broad.mit.edu 37 2 198266713 198266713 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr2:198266713C>T ENST00000335508.6 - 15 2310 c.2219G>A c.(2218-2220)gGa>gAa p.G740E NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding p.G740E(1) NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) ATTTACCTTTCCTCTGTGTTG 0.343000 Mis myelodysplastic syndrome 17 34 0 0 1 0 0 KCNJ9 3765 broad.mit.edu 37 1 160057420 160057420 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr1:160057420C>T ENST00000368088.3 + 3 1237 c.995C>T c.(994-996)tCg>tTg p.S332L NM_004983.2 NP_004974.2 Q92806 IRK9_HUMAN potassium inwardly-rectifying channel, subfamily J, member 9 332 synaptic transmission integral to membrane|plasma membrane G-protein activated inward rectifier potassium channel activity|protein binding p.S332*(1) biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2) 16 all_cancers(52;5.86e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CCCACACCTTCGTGCAGTGCT 0.617000 26 125 0 0 1 0 0 ABCB8 11194 broad.mit.edu 37 7 150732784 150732784 + Silent SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr7:150732784G>A ENST00000358849.4 + 6 975 c.882G>A c.(880-882)ctG>ctA p.L294L ABCB8_ENST00000477719.1_Silent_p.L294L|ABCB8_ENST00000477092.1_Silent_p.L294L|ABCB8_ENST00000542328.1_Silent_p.L206L|ABCB8_ENST00000498578.1_Silent_p.L294L|ABCB8_ENST00000356058.4_Silent_p.L331L|ABCB8_ENST00000297504.6_Silent_p.L311L NM_001282291.1|NM_001282293.1|NM_007188.3 NP_001269220.1|NP_001269222.1|NP_009119.2 Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 8 311 ABC transmembrane type-1. ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGGGCACCCTGATGGGCTCAG 0.627000 26 22 0 0 1 0 0 TEX2 55852 broad.mit.edu 37 17 62290424 62290424 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr17:62290424G>A ENST00000258991.3 - 2 1238 c.1154C>T c.(1153-1155)tCc>tTc p.S385F TEX2_ENST00000583097.1_Missense_Mutation_p.S385F|TEX2_ENST00000584379.1_Missense_Mutation_p.S385F Q8IWB9 TEX2_HUMAN testis expressed 2 385 signal transduction|sphingolipid metabolic process integral to membrane p.S385F(1) breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) GCTCCCCTGGGAACTTTTCAG 0.473000 53 52 0 0 1 0 0 PANX3 116337 broad.mit.edu 37 11 124481614 124481614 + Silent SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr11:124481614C>T ENST00000284288.2 + 1 229 c.162C>T c.(160-162)ttC>ttT p.F54F NM_052959.2 NP_443191.1 Q96QZ0 PANX3_HUMAN pannexin 3 54 protein hexamerization gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1) 26 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219) CCCTGGCATTCGCCCAGGAGT 0.587000 13 25 0 0 1 0 0 HELZ2 85441 broad.mit.edu 37 20 62196494 62196494 + Silent SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr20:62196494G>A ENST00000467148.1 - 8 3750 c.3681C>T c.(3679-3681)ttC>ttT p.F1227F HELZ2_ENST00000427522.2_Silent_p.F658F NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator GCTCGGCCACGAAGATCTTGG 0.652000 4 7 0 0 1 0 0 ZNF138 7697 broad.mit.edu 37 7 64292137 64292137 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr7:64292137G>A ENST00000359735.3 + 4 693 c.346G>A c.(346-348)Gac>Aac p.D116N ZNF138_ENST00000440598.1_3'UTR|ZNF138_ENST00000440155.2_Missense_Mutation_p.D147N|ZNF138_ENST00000437743.1_Missense_Mutation_p.D141N|ZNF138_ENST00000430838.2_3'UTR|ZNF138_ENST00000307355.7_Missense_Mutation_p.D173N|ZNF138_ENST00000494380.1_3'UTR|ZNF138_ENST00000397136.2_Missense_Mutation_p.D116N NM_001271637.1|NM_001271639.1 NP_001258566.1|NP_001258568.1 B4DP87 B4DP87_HUMAN zinc finger protein 138 147 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding kidney(1)|large_intestine(3)|lung(2)|stomach(1) 7 Lung NSC(55;0.0795)|all_lung(88;0.18) TAAAGAATGTGACAAATCACT 0.284000 21 53 0 0 1 0 0 PPP6R2 9701 broad.mit.edu 37 22 50882308 50882308 + Missense_Mutation SNP G G T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr22:50882308G>T ENST00000359139.3 + 22 2909 c.2515G>T c.(2515-2517)Gac>Tac p.D839Y PPP6R2_ENST00000395744.3_Missense_Mutation_p.D838Y|PPP6R2_ENST00000395741.3_Missense_Mutation_p.D839Y|PPP6R2_ENST00000216061.5_Missense_Mutation_p.D872Y NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4 NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2 O75170 PP6R2_HUMAN protein phosphatase 6, regulatory subunit 2 872 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 CGGGTGTGCTGACAGCCGGCT 0.657000 4 5 0.00909568 0.00922525 1 1 0 FAM13A 10144 broad.mit.edu 37 4 89859343 89859343 + Missense_Mutation SNP T T C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr4:89859343T>C ENST00000264344.5 - 5 862 c.655A>G c.(655-657)Ata>Gta p.I219V FAM13A_ENST00000511976.1_Missense_Mutation_p.I10V|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000509094.1_Missense_Mutation_p.I219V NM_014883.3 NP_055698.2 O94988 FA13A_HUMAN family with sequence similarity 13, member A 219 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 55 TTAGCCATTATCTTGTTGCAC 0.393000 30 6 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24924112 24924112 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr15:24924112C>T ENST00000329468.2 + 1 3572 c.3098C>T c.(3097-3099)tCa>tTa p.S1033L NM_018958.2 NP_061831.2 nuclear pore associated protein 1 AGTTCCACATCAGGAGAACTC 0.547000 28 6 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398262 25398262 + Missense_Mutation SNP C C G rs121913538 TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr12:25398262C>G ENST00000311936.3 - 2 248 c.57G>C c.(55-57)ttG>ttC p.L19F KRAS_ENST00000256078.4_Missense_Mutation_p.L19F|KRAS_ENST00000556131.1_Missense_Mutation_p.L19F|KRAS_ENST00000557334.1_Missense_Mutation_p.L19F NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 19 activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.L19F(15) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCTGTATCGTCAAGGCACTCT 0.358000 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 28 33 0 0 1 0 0 PATZ1 23598 broad.mit.edu 37 22 31740795 31740795 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr22:31740795C>T ENST00000266269.5 - 1 1423 c.794G>A c.(793-795)cGa>cAa p.R265Q PATZ1_ENST00000215919.3_Missense_Mutation_p.R265Q|PATZ1_ENST00000405309.3_Missense_Mutation_p.R265Q|PATZ1_ENST00000351933.4_Missense_Mutation_p.R265Q NM_014323.2 NP_055138.2 Q9HBE1 PATZ1_HUMAN POZ (BTB) and AT hook containing zinc finger 1 265 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R265Q(2) EWSR1/PATZ1(2) NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2) 12 GCCCCGGCCTCGCTTGCCAGT 0.652000 9 11 0 0 1 0 0 IKZF1 10320 broad.mit.edu 37 7 50467644 50467644 + Silent SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr7:50467644C>T ENST00000331340.3 + 8 1034 c.879C>T c.(877-879)taC>taT p.Y293Y IKZF1_ENST00000343574.5_Silent_p.Y206Y|IKZF1_ENST00000359197.5_Silent_p.Y251Y|IKZF1_ENST00000357364.4_Silent_p.Y206Y|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000439701.1_Silent_p.Y251Y|IKZF1_ENST00000346667.4_Silent_p.Y63Y|IKZF1_ENST00000438033.1_Silent_p.Y206Y|IKZF1_ENST00000349824.4_Silent_p.Y150Y NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4 NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1 Q13422 IKZF1_HUMAN IKAROS family zinc finger 1 (Ikaros) 293 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(28) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) ACACGCCCTACGACAGCAGCG 0.622000 """D,T""" BCL6 """ALL, DLBCL""" 5 9 0 0 1 0 0 ZNF330 27309 broad.mit.edu 37 4 142153687 142153687 + Silent SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr4:142153687C>T ENST00000262990.4 + 9 807 c.579C>T c.(577-579)ttC>ttT p.F193F ZNF330_ENST00000421169.2_Silent_p.F133F NM_014487.4 NP_055302.1 Q9Y3S2 ZN330_HUMAN zinc finger protein 330 193 chromosome, centromeric region|midbody|nucleolus protein binding|zinc ion binding kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 all_hematologic(180;0.162) AGGCTTGTTTCTGTGATGATC 0.318000 18 1 0 0 1 0 0 KIAA1407 57577 broad.mit.edu 37 3 113775288 113775288 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr3:113775288G>A ENST00000295878.3 - 1 172 c.26C>T c.(25-27)tCc>tTc p.S9F KIAA1407_ENST00000480588.1_5'UTR|KIAA1407_ENST00000545063.1_5'UTR NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 9 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 CTTTGAGAAGGACCTTCCCTG 0.602000 106 69 0 0 1 0 0 CHRNA7 1139 broad.mit.edu 37 15 32460267 32460267 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr15:32460267G>A ENST00000306901.3 + 10 1214 c.1117G>A c.(1117-1119)Gcc>Acc p.A373T CHRNA7_ENST00000454250.3_Missense_Mutation_p.A402T|CHRNA7_ENST00000455693.2_Missense_Mutation_p.A192T NM_000746.5 NP_000737.1 P36544 ACHA7_HUMAN cholinergic receptor, nicotinic, alpha 7 (neuronal) 373 activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding p.A283S(1)|p.A373S(1) endometrium(3)|large_intestine(1)|lung(6)|ovary(2) 12 all_lung(180;6.35e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) Nicotine(DB00184)|Varenicline(DB01273) GGAGATGAGCGCCGTGGCGCC 0.706000 29 62 0 0 1 0 0 NCOR1 9611 broad.mit.edu 37 17 15965161 15965161 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr17:15965161G>A ENST00000268712.3 - 37 5692 c.5435C>T c.(5434-5436)tCc>tTc p.S1812F NCOR1_ENST00000395857.3_Missense_Mutation_p.S396F|NCOR1_ENST00000395851.1_Missense_Mutation_p.S1828F NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 1812 Interaction with C1D (By similarity).|Interaction with ETO. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) GTTGTAACGGGAGGCTGGCAG 0.527000 34 38 0 0 1 0 0 NR1D2 9975 broad.mit.edu 37 3 24018896 24018896 + Missense_Mutation SNP A A C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr3:24018896A>C ENST00000312521.4 + 8 2045 c.1726A>C c.(1726-1728)Aaa>Caa p.K576Q NR1D2_ENST00000492552.1_3'UTR NM_001145425.1|NM_005126.4 NP_001138897.1|NP_005117 Q14995 NR1D2_HUMAN nuclear receptor subfamily 1, group D, member 2 576 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 22 CTTGGCCTTTAAAGTTCACCC 0.358000 59 53 0 0 1 0 0 INHA 3623 broad.mit.edu 37 2 220440120 220440120 + Missense_Mutation SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr2:220440120C>G ENST00000243786.2 + 2 1153 c.973C>G c.(973-975)Cag>Gag p.Q325E NM_002191.3 NP_002182.1 P05111 INHA_HUMAN inhibin, alpha 325 cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development inhibin A complex|inhibin-betaglycan-ActRII complex cytokine activity|growth factor activity|hormone activity|signal transducer activity large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 10 Renal(207;0.0183) Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) GCCAGGGGCCCAGCCCTGCTG 0.622000 47 43 0 0 1 0 0 PEPD 5184 broad.mit.edu 37 19 33878326 33878326 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr19:33878326G>A ENST00000244137.7 - 15 1439 c.1406C>T c.(1405-1407)cCc>cTc p.P469L PEPD_ENST00000591968.1_5'UTR|PEPD_ENST00000436370.3_Missense_Mutation_p.P405L|PEPD_ENST00000397032.4_Missense_Mutation_p.P428L NM_000285.3 NP_000276.2 P12955 PEPD_HUMAN peptidase D cellular amino acid metabolic process|collagen catabolic process|proteolysis aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2) 17 Esophageal squamous(110;0.137) CACAGTGCGGGGCACGCAGGT 0.587000 30 62 0 0 1 0 0 RHOB 388 broad.mit.edu 37 2 20647310 20647310 + Missense_Mutation SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr2:20647310C>G ENST00000272233.4 + 1 476 c.84C>G c.(82-84)gaC>gaG p.D28E NM_004040.2 NP_004031.1 P62745 RHOB_HUMAN ras homolog family member B 28 angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis cytosol|late endosome membrane|nucleus|plasma membrane GTP binding|GTPase activity|protein binding breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164) OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19) TCAGTAAGGACGAGTTCCCCG 0.662000 36 24 0 0 1 0 0 PGLYRP2 114770 broad.mit.edu 37 19 15582716 15582716 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr19:15582716C>T ENST00000292609.4 - 3 1457 c.1328G>A c.(1327-1329)gGa>gAa p.G443E PGLYRP2_ENST00000340880.4_Missense_Mutation_p.G443E Q96PD5 PGRP2_HUMAN peptidoglycan recognition protein 2 443 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1) 28 GCCGATGTCTCCCCAGCCTTG 0.692000 8 24 0 0 1 0 0 SETX 23064 broad.mit.edu 37 9 135153501 135153501 + Silent SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr9:135153501G>A ENST00000372169.2 - 21 6980 c.6798C>T c.(6796-6798)ctC>ctT p.L2266L SETX_ENST00000393220.1_Silent_p.L2266L|SETX_ENST00000224140.5_Silent_p.L2266L Q7Z333 SETX_HUMAN senataxin 2266 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) TAGAAGGGAAGAGGCATATGT 0.388000 47 85 0 0 1 0 0 LRRC25 126364 broad.mit.edu 37 19 18502902 18502902 + Silent SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr19:18502902G>A ENST00000339007.3 - 2 1466 c.813C>T c.(811-813)atC>atT p.I271I LRRC25_ENST00000595840.1_Silent_p.I271I NM_145256.2 NP_660299.2 Q8N386 LRC25_HUMAN leucine rich repeat containing 25 271 integral to membrane endometrium(1)|large_intestine(3)|lung(3)|skin(1) 8 CCTTGTAGTTGATGTAAAAGT 0.582000 7 27 0 0 1 0 0 INADL 10207 broad.mit.edu 37 1 62579821 62579821 + Nonsense_Mutation SNP G G T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr1:62579821G>T ENST00000371158.2 + 35 4672 c.4558G>T c.(4558-4560)Gag>Tag p.E1520* INADL_ENST00000543708.1_Nonsense_Mutation_p.E334*|INADL_ENST00000316485.6_Nonsense_Mutation_p.E1550*|INADL_ENST00000545929.1_Nonsense_Mutation_p.E165* NM_176877.2 NP_795352 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 1520 PDZ 8. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 GTATAGAGATGAGGCACACTA 0.577000 10 16 7.48243e-07 7.721e-07 1 1 0 TRPC4 7223 broad.mit.edu 37 13 38229288 38229288 + Missense_Mutation SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr13:38229288G>C ENST00000379705.3 - 7 2678 c.1821C>G c.(1819-1821)atC>atG p.I607M TRPC4_ENST00000447043.1_Missense_Mutation_p.I607M|TRPC4_ENST00000379679.1_Missense_Mutation_p.I434M|TRPC4_ENST00000379681.3_Missense_Mutation_p.I607M|TRPC4_ENST00000338947.5_Missense_Mutation_p.I434M|TRPC4_ENST00000379673.2_Missense_Mutation_p.I607M|TRPC4_ENST00000358477.2_Missense_Mutation_p.I607M|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000355779.2_Missense_Mutation_p.I607M Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 607 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity p.I607I(2) NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) CAACCAGAGAGATGACATTGT 0.353000 14 30 0 0 1 0 0 THAP7-AS1 439931 broad.mit.edu 37 22 21363368 21363368 + RNA SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr22:21363368C>G ENST00000452284.1 + 0 1035 THAP7-AS1_ENST00000436079.1_RNA|TUBA3FP_ENST00000422086.1_RNA NR_027051.1 GGAATTCTGTCAAGTACACAT 0.572000 19 37 0 0 1 0 0 INTS3 65123 broad.mit.edu 37 1 153719781 153719781 + Silent SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr1:153719781G>A ENST00000318967.2 + 5 1027 c.459G>A c.(457-459)gtG>gtA p.V153V RP11-216N14.8_ENST00000453778.1_RNA|INTS3_ENST00000435409.2_Silent_p.V153V|INTS3_ENST00000456435.1_5'UTR NM_023015.3 NP_075391.3 Q68E01 INT3_HUMAN integrator complex subunit 3 153 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GGGAACTGGTGAAGAGTGGGG 0.458000 50 17 0 0 1 0 0 SERPINE1 5054 broad.mit.edu 37 7 100776988 100776988 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr7:100776988C>T ENST00000223095.4 + 5 870 c.713C>T c.(712-714)aCg>aTg p.T238M SERPINE1_ENST00000445463.2_Missense_Mutation_p.T223M NM_000602.4 NP_000593.1 P05121 PAI1_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 238 angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3) 20 Lung NSC(181;0.136)|all_lung(186;0.182) Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013) GAGTTCACCACGCCCGATGGC 0.542000 9 47 0 0 1 0 0 ADCY9 115 broad.mit.edu 37 16 4039033 4039033 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr16:4039033C>T ENST00000294016.3 - 6 2810 c.2272G>A c.(2272-2274)Gag>Aag p.E758K NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 758 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CGCTCCAGCTCCTGATCCAGG 0.438000 67 32 0 0 1 0 0 THBS2 7058 broad.mit.edu 37 6 169633085 169633085 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr6:169633085G>A ENST00000366787.3 - 12 1928 c.1679C>T c.(1678-1680)cCg>cTg p.P560L XXyac-YX65C7_A.2_ENST00000444188.1_RNA NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 560 EGF-like 1. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) CTGGGCTCCCGGGAAGCAGGG 0.657000 2 0 0 0 1 0 0 ANGEL1 23357 broad.mit.edu 37 14 77275974 77275974 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr14:77275974G>A ENST00000251089.2 - 2 189 c.77C>T c.(76-78)aCa>aTa p.T26I ANGEL1_ENST00000554941.1_5'UTR NM_015305.3 NP_056120.2 Q9UNK9 ANGE1_HUMAN angel homolog 1 (Drosophila) 26 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 22 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0285) TTTTCGACATGTGAAGAAAGC 0.502000 21 22 0 0 1 0 0 ABCA9 10350 broad.mit.edu 37 17 67023473 67023473 + Nonsense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr17:67023473G>A ENST00000340001.4 - 14 2120 c.1909C>T c.(1909-1911)Caa>Taa p.Q637* ABCA9_ENST00000453985.2_Nonsense_Mutation_p.Q637*|ABCA9_ENST00000370732.2_Nonsense_Mutation_p.Q637* NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 637 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) TGACTTACTTGAGGATCTCCT 0.294000 21 20 0 0 1 0 0 GTF3C3 9330 broad.mit.edu 37 2 197664309 197664309 + Silent SNP G G T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr2:197664309G>T ENST00000263956.3 - 1 116 c.27C>A c.(25-27)atC>atA p.I9I GTF3C3_ENST00000409364.3_Silent_p.I9I NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 9 transcription factor TFIIIC complex DNA binding|protein binding breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 CCAAGTAGTCGATGAGTTCCG 0.547000 14 57 6.31663e-08 6.5752e-08 1 1 0 SORCS1 114815 broad.mit.edu 37 10 108377934 108377934 + Missense_Mutation SNP G G T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr10:108377934G>T ENST00000263054.6 - 21 2900 c.2893C>A c.(2893-2895)Caa>Aaa p.Q965K SORCS1_ENST00000344440.6_Missense_Mutation_p.Q965K|SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000369698.1_Missense_Mutation_p.Q500K NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 965 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TTTGTGTCTTGTAGGATGGCA 0.473000 45 28 3.77016e-25 4.092e-25 1 1 0 POLL 27343 broad.mit.edu 37 10 103343319 103343319 + Silent SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr10:103343319G>A ENST00000370162.3 - 6 1505 c.1011C>T c.(1009-1011)ctC>ctT p.L337L POLL_ENST00000436284.2_3'UTR|POLL_ENST00000339310.3_Silent_p.L60L|DPCD_ENST00000470165.1_Intron|POLL_ENST00000456836.2_Silent_p.L74L|POLL_ENST00000370158.3_Silent_p.L62L|POLL_ENST00000370169.1_Silent_p.L337L|POLL_ENST00000370172.1_Silent_p.L249L|POLL_ENST00000299206.4_Silent_p.L337L|DPCD_ENST00000416979.2_Intron NM_001174084.1|NM_001174085.1|NM_013274.3 NP_001167555.1|NP_001167556.1|NP_037406.1 Q9UGP5 DPOLL_HUMAN polymerase (DNA directed), lambda 337 DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes nucleus DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2) 19 Colorectal(252;0.234) Epithelial(162;1.55e-08)|all cancers(201;6.64e-07) TGTTGGAGAAGAGCTCCAAGA 0.547000 DNA polymerases (catalytic subunits) 28 18 0 0 1 0 0 BRD8 10902 broad.mit.edu 37 5 137498964 137498964 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr5:137498964C>T ENST00000254900.5 - 15 2313 c.1942G>A c.(1942-1944)Gag>Aag p.E648K BRD8_ENST00000230901.5_Missense_Mutation_p.E721K|BRD8_ENST00000411594.2_Missense_Mutation_p.E651K|BRD8_ENST00000515014.1_Intron|BRD8_ENST00000455658.2_Missense_Mutation_p.E607K|BRD8_ENST00000402931.1_Missense_Mutation_p.E648K NM_139199.1 NP_631938 Q9H0E9 BRD8_HUMAN bromodomain containing 8 648 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) CCTTGATCCTCTTCCTTAGGC 0.488000 23 36 0 0 1 0 0 PAFAH2 5051 broad.mit.edu 37 1 26301079 26301079 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr1:26301079C>T ENST00000374282.3 - 9 1000 c.821G>A c.(820-822)cGa>cAa p.R274Q PAFAH2_ENST00000374284.1_Missense_Mutation_p.R274Q NM_000437.3 NP_000428.2 Q99487 PAFA2_HUMAN platelet-activating factor acetylhydrolase 2, 40kDa 274 lipid catabolic process cytoplasm 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1) 9 Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649) CACAGGTCCTCGGGCCTTGGG 0.463000 13 25 0 0 1 0 0 CYP7A1 1581 broad.mit.edu 37 8 59404917 59404917 + Missense_Mutation SNP G G A rs144997923 TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr8:59404917G>A ENST00000301645.3 - 5 1347 c.1210C>T c.(1210-1212)Cct>Tct p.P404S NM_000780.3 NP_000771.2 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, polypeptide 1 404 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1) 34 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) CTTACCAAAGGGTCTGGGTAG 0.388000 Neonatal Giant Cell Hepatitis 36 40 0 0 1 0 0 ZMYM4 9202 broad.mit.edu 37 1 35862221 35862221 + Missense_Mutation SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr1:35862221C>G ENST00000314607.6 + 19 3060 c.2980C>G c.(2980-2982)Ctt>Gtt p.L994V ZMYM4_ENST00000373297.2_Missense_Mutation_p.L905V NM_005095.2 NP_005086.2 Q5VZL5 ZMYM4_HUMAN zinc finger, MYM-type 4 994 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TCCCATACCTCTTCACCTTTA 0.398000 40 45 0 0 1 0 0 MTO1 25821 broad.mit.edu 37 6 74191937 74191937 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr6:74191937G>A ENST00000498286.1 + 8 1712 c.1435G>A c.(1435-1437)Gat>Aat p.D479N MTO1_ENST00000415954.2_Missense_Mutation_p.D519N|MTO1_ENST00000370305.1_Missense_Mutation_p.D430N|MTO1_ENST00000370300.4_Missense_Mutation_p.D504N Q9Y2Z2 MTO1_HUMAN mitochondrial tRNA translation optimization 1 504 tRNA processing mitochondrion flavin adenine dinucleotide binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1) 27 ACTGCGCCCTGATAATGCTGA 0.507000 32 31 0 0 1 0 0 PCDHA3 56145 broad.mit.edu 37 5 140183224 140183224 + Missense_Mutation SNP C C A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr5:140183224C>A ENST00000532566.2 + 1 2442 c.2442C>A c.(2440-2442)ttC>ttA p.F814L PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron NM_031497.1 NP_113685.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTTTTCATTCCTCAATGTTT 0.338000 8 28 0.0477658 0.0481717 1 1 0 MOB3C 148932 broad.mit.edu 37 1 47075816 47075816 + Missense_Mutation SNP C C T rs147799654 TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr1:47075816C>T ENST00000371940.1 - 2 3622 c.548G>A c.(547-549)cGa>cAa p.R183Q MOB3C_ENST00000477318.1_5'UTR|MOB3C_ENST00000271139.8_Missense_Mutation_p.R212Q|MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000319928.3_Missense_Mutation_p.R160Q Q70IA8 MOL2C_HUMAN MOB kinase activator 3C 160 metal ion binding GACAAAGACTCGGAAGAGGCG 0.552000 59 30 0 0 1 0 0 FERMT3 83706 broad.mit.edu 37 11 63978229 63978229 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr11:63978229C>T ENST00000279227.5 + 3 402 c.307C>T c.(307-309)Cgg>Tgg p.R103W FERMT3_ENST00000345728.5_Missense_Mutation_p.R103W NM_178443.2 NP_848537.1 Q86UX7 URP2_HUMAN fermitin family member 3 103 integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 18 CGTCATCCTTCGGTTGCCCAA 0.672000 71 72 0 0 1 0 0 SLC9A7P1 121456 broad.mit.edu 37 12 98850342 98850342 + RNA SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr12:98850342G>A ENST00000554295.1 - 0 581 NR_033801.1 GAAGAATGTTGAAAAATACCT 0.428000 7 9 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103488462 103488462 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr1:103488462C>T ENST00000358392.2 - 8 1434 c.1117G>A c.(1117-1119)Gaa>Aaa p.E373K COL11A1_ENST00000370096.3_Missense_Mutation_p.E361K|COL11A1_ENST00000353414.4_Missense_Mutation_p.E322K|COL11A1_ENST00000512756.1_Intron NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 361 Nonhelical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TCTTTGTTTTCATATAGTGTA 0.323000 19 27 0 0 1 0 0 LTA4H 4048 broad.mit.edu 37 12 96418259 96418259 + Missense_Mutation SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr12:96418259C>G ENST00000228740.2 - 4 619 c.478G>C c.(478-480)Gag>Cag p.E160Q LTA4H_ENST00000552789.1_Missense_Mutation_p.E136Q|LTA4H_ENST00000413268.2_Missense_Mutation_p.E136Q NM_000895.2 NP_000886.1 P09960 LKHA4_HUMAN leukotriene A4 hydrolase 160 hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis cytosol|nucleus aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1) 12 ATATTTACCTCTGCAGTATAG 0.343000 8 15 0 0 1 0 0 CSGALNACT1 55790 broad.mit.edu 37 8 19297442 19297442 + Splice_Site SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr8:19297442C>T ENST00000454498.2 - 6 1865 c.852G>A c.(850-852)agG>agA p.R284R CSGALNACT1_ENST00000522854.1_Splice_Site_p.R284R|CSGALNACT1_ENST00000544602.1_Splice_Site_p.R284R|CSGALNACT1_ENST00000332246.6_Splice_Site_p.R284R|CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000311540.4_Splice_Site_p.R284R NM_001130518.1 NP_001123990.1 Q8TDX6 CGAT1_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 1 284 anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process Golgi cisterna membrane|integral to Golgi membrane|soluble fraction glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(111;0.182) TGCACATCTCCCTGGAAAACA 0.413000 30 1 0 0 1 0 0 NDFIP1 80762 broad.mit.edu 37 5 141524185 141524185 + Missense_Mutation SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr5:141524185G>C ENST00000253814.4 + 7 1082 c.612G>C c.(610-612)aaG>aaC p.K204N NM_030571.3 NP_085048.1 Q9BT67 NFIP1_HUMAN Nedd4 family interacting protein 1 204 cellular iron ion homeostasis|negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination endosome membrane|extracellular region|Golgi membrane|integral to membrane|perinuclear region of cytoplasm signal transducer activity large_intestine(3)|lung(1)|ovary(1) 5 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGTTCGGAAGATGCCAGAAA 0.318000 33 79 0 0 1 0 0 TOMM40 10452 broad.mit.edu 37 19 45395666 45395666 + Silent SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr19:45395666G>A ENST00000592434.1 + 3 384 c.291G>A c.(289-291)caG>caA p.Q97Q TOMM40_ENST00000426677.2_Silent_p.Q97Q|TOMM40_ENST00000405636.2_Silent_p.Q97Q|TOMM40_ENST00000252487.5_Silent_p.Q97Q O96008 TOM40_HUMAN translocase of outer mitochondrial membrane 40 homolog (yeast) 97 protein targeting to mitochondrion integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1) 5 Lung NSC(12;0.0018)|all_lung(12;0.00481) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176) TTCCCATTCAGATGGAGGGTG 0.547000 34 55 0 0 1 0 0 PGBD2 267002 broad.mit.edu 37 1 249211438 249211438 + Missense_Mutation SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr1:249211438G>C ENST00000539153.1 + 4 901 c.646G>C c.(646-648)Gac>Cac p.D216H PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000329291.5_Missense_Mutation_p.D219H|PGBD2_ENST00000355360.4_Intron Q6P3X8 PGBD2_HUMAN piggyBac transposable element derived 2 219 NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3) 14 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) AATTAGAAGGGACAGATTTGA 0.408000 17 80 0 0 1 0 0 TAOK2 9344 broad.mit.edu 37 16 30002179 30002179 + Silent SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr16:30002179C>T ENST00000279394.3 + 18 2923 c.2520C>T c.(2518-2520)ctC>ctT p.L840L NM_004783.3 NP_004774.1 Q9UL54 TAOK2_HUMAN TAO kinase 2 721 Glu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 TGGAGCTGCTCAACGCTTACC 0.617000 16 36 0 0 1 0 0 AP3B1 8546 broad.mit.edu 37 5 77590302 77590302 + Missense_Mutation SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr5:77590302G>C ENST00000255194.6 - 1 277 c.102C>G c.(100-102)ttC>ttG p.F34L AP3B1_ENST00000519295.1_5'UTR NM_001271769.1 NP_001258698.1 O00203 AP3B1_HUMAN adaptor-related protein complex 3, beta 1 subunit 34 endocytosis|melanosome organization clathrin coated vesicle membrane|Golgi apparatus|membrane coat protein phosphatase binding|protein transporter activity p.F34F(1) breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1) 39 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) TAAAGAGGCCGAAGGCCCCCG 0.612000 Hermansky-Pudlak syndrome 22 5 0 0 1 0 0 ZNF703 80139 broad.mit.edu 37 8 37554779 37554779 + Silent SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr8:37554779G>A ENST00000331569.4 + 2 589 c.360G>A c.(358-360)ctG>ctA p.L120L NM_025069.1 NP_079345.1 Q9H7S9 ZN703_HUMAN zinc finger protein 703 120 adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding FGFR1/ZNF703(2) breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09) CCAACGGGCTGGGAGCGGAGA 0.741000 8 1 0 0 1 0 0 NR3C2 4306 broad.mit.edu 37 4 149181140 149181140 + Silent SNP T T C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr4:149181140T>C ENST00000355292.3 - 3 2249 c.1887A>G c.(1885-1887)agA>agG p.R629R NR3C2_ENST00000512865.1_Silent_p.R629R|NR3C2_ENST00000358102.3_Silent_p.R629R|NR3C2_ENST00000511528.1_Silent_p.R629R|NR3C2_ENST00000344721.4_Silent_p.R629R P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 629 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) CTTCCACTGCTCTTTTGAAGA 0.403000 6 55 0 0 1 0 0 CILP2 148113 broad.mit.edu 37 19 19654143 19654143 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr19:19654143G>A ENST00000586018.1 + 7 1184 c.1082G>A c.(1081-1083)gGc>gAc p.G361D CILP2_ENST00000291495.5_Missense_Mutation_p.G355D Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 355 Ig-like C2-type. proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 GACCAGGCTGGCATCTACCAC 0.662000 36 26 0 0 1 0 0 ICOSLG 23308 broad.mit.edu 37 21 45655395 45655395 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr21:45655395C>T ENST00000407780.3 - 4 584 c.457G>A c.(457-459)Gag>Aag p.E153K ICOSLG_ENST00000344330.4_Missense_Mutation_p.E153K|ICOSLG_ENST00000400377.3_Missense_Mutation_p.E36K|ICOSLG_ENST00000400379.3_Missense_Mutation_p.E153K NM_001283052.1 NP_001269981.1 O75144 ICOSL_HUMAN inducible T-cell co-stimulator ligand 153 Ig-like C2-type. B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation receptor binding endometrium(2)|lung(1)|stomach(1)|urinary_tract(1) 5 Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772) AAGGTGAGCTCATCCTGGGAG 0.582000 41 63 0 0 1 0 0 UGGT1 56886 broad.mit.edu 37 2 128855037 128855037 + Silent SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr2:128855037C>T ENST00000375990.3 + 2 424 c.21C>T c.(19-21)ctC>ctT p.L7L UGGT1_ENST00000259253.6_Silent_p.L31L Q9NYU2 UGGG1_HUMAN UDP-glucose glycoprotein glucosyltransferase 1 31 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 TGGTTGTACTCACTGTTCTGT 0.373000 47 35 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23902831 23902831 + Silent SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr14:23902831G>C ENST00000355349.3 - 3 273 c.111C>G c.(109-111)gtC>gtG p.V37V NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 37 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.V37V(1) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CAGGCACGAAGACATCCTTCT 0.572000 15 55 0 0 1 0 0 P2RY4 5030 broad.mit.edu 37 X 69479446 69479446 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chrX:69479446C>T ENST00000374519.2 - 1 208 c.29G>A c.(28-30)aGa>aAa p.R10K NM_002565.3 NP_002556.1 P51582 P2RY4_HUMAN pyrimidinergic receptor P2Y, G-protein coupled, 4 10 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled cervix(2)|endometrium(2)|large_intestine(8)|lung(6) 18 GCCTAGGGATCTCAACAGGGA 0.592000 5 1 0 0 1 0 0 HECTD1 25831 broad.mit.edu 37 14 31585597 31585597 + Silent SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr14:31585597C>T ENST00000399332.1 - 30 5951 c.5463G>A c.(5461-5463)ttG>ttA p.L1821L HECTD1_ENST00000553700.1_Silent_p.L1821L NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 1821 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity p.L1821F(1) breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) CTGTTACTTTCAAAGTGAGAG 0.393000 16 46 0 0 1 0 0 ATP2B1 490 broad.mit.edu 37 12 90024303 90024303 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr12:90024303C>T ENST00000428670.3 - 6 1363 c.907G>A c.(907-909)Gag>Aag p.E303K ATP2B1_ENST00000393164.2_Missense_Mutation_p.E46K|ATP2B1_ENST00000359142.3_Missense_Mutation_p.E303K|ATP2B1_ENST00000261173.2_Missense_Mutation_p.E303K|ATP2B1_ENST00000348959.3_Missense_Mutation_p.E303K P20020 AT2B1_HUMAN ATPase, Ca++ transporting, plasma membrane 1 303 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 45 tttttcttctcatctttcttc 0.338000 12 16 0 0 1 0 0 NBPF14 25832 broad.mit.edu 37 1 148004675 148004675 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr1:148004675C>T ENST00000369219.1 - 22 2655 c.2639G>A c.(2638-2640)aGa>aAa p.R880K Q5TI25 NBPFE_HUMAN neuroblastoma breakpoint family, member 14 880 NBPF 10. cytoplasm NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 42 all_hematologic(923;0.032) AAACACACTTCTGTAGTGCTG 0.438000 25 178 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118342446 118342446 + Nonsense_Mutation SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr11:118342446C>G ENST00000534358.1 + 3 595 c.572C>G c.(571-573)tCa>tGa p.S191* KMT2A_ENST00000389506.5_Nonsense_Mutation_p.S191*|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.S191* NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A GCTATCCTCTCAGATCCATCT 0.378000 23 19 0 0 1 0 0 TUBA4A 7277 broad.mit.edu 37 2 220115591 220115591 + Missense_Mutation SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr2:220115591G>C ENST00000392088.2 - 4 1340 c.785C>G c.(784-786)tCt>tGt p.S262C TUBA4A_ENST00000248437.4_Missense_Mutation_p.S277C|TUBA4A_ENST00000498660.1_5'UTR NM_001278552.1 NP_001265481.1 P68366 TBA4A_HUMAN tubulin, alpha 4a 277 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization cytosol|extracellular region|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 20 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTTTTCTGCAGAGATGACTGG 0.582000 23 51 0 0 1 0 0 HDGFRP2 84717 broad.mit.edu 37 19 4501209 4501209 + Nonsense_Mutation SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr19:4501209C>G ENST00000301284.4 + 15 1875 c.1811C>G c.(1810-1812)tCa>tGa p.S604* HDGFRP2_ENST00000586684.1_Nonsense_Mutation_p.S604* NM_001001520.1|NM_032631.2 NP_001001520|NP_116020.1 Q7Z4V5 HDGR2_HUMAN 599 transcription, DNA-dependent nucleus DNA binding|protein binding CCAGATCTCTCAGCCCCAGTG 0.652000 21 9 0 0 1 0 0 PKN3 29941 broad.mit.edu 37 9 131469274 131469274 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr9:131469274G>A ENST00000291906.4 + 5 1016 c.623G>A c.(622-624)aGa>aAa p.R208K NM_013355.3 NP_037487.2 Q6P5Z2 PKN3_HUMAN protein kinase N3 208 signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein binding|protein kinase C activity breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 AGTAGCCGGAGAACACAGGAC 0.632000 29 34 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25448221 25448221 + RNA SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr15:25448221G>A ENST00000424208.1 + 0 2067 SNHG14_ENST00000424333.1_RNA NR_003305.1 TACTGGGGCCGCTGGCCCCAC 0.632000 17 4 0 0 1 0 0 UCKL1 54963 broad.mit.edu 37 20 62577866 62577866 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr20:62577866C>T ENST00000369908.5 - 2 498 c.199G>A c.(199-201)Gcc>Acc p.A67T UCKL1_ENST00000354216.6_Missense_Mutation_p.A82T|UCKL1_ENST00000369892.3_Missense_Mutation_p.A82T|UCKL1_ENST00000358711.3_Missense_Mutation_p.A82T NM_001193379.1 NP_001180308.1 Q9NWZ5 UCKL1_HUMAN uridine-cytidine kinase 1-like 1 82 interspecies interaction between organisms endoplasmic reticulum|nucleus ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) GGCCGCCCGGCGGTGTAGATG 0.672000 13 18 0 0 1 0 0 LRP10 26020 broad.mit.edu 37 14 23344686 23344686 + Missense_Mutation SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr14:23344686G>C ENST00000359591.4 + 5 1220 c.529G>C c.(529-531)Gac>Cac p.D177H LRP10_ENST00000546834.1_Missense_Mutation_p.D177H NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 177 endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) TTGCAGCTCAGACCCCTTCCC 0.572000 41 27 0 0 1 0 0 ZNF138 7697 broad.mit.edu 37 7 64291896 64291896 + Silent SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr7:64291896G>A ENST00000359735.3 + 4 452 c.105G>A c.(103-105)gtG>gtA p.V35V ZNF138_ENST00000440598.1_3'UTR|ZNF138_ENST00000440155.2_Silent_p.V66V|ZNF138_ENST00000437743.1_Silent_p.V60V|ZNF138_ENST00000430838.2_3'UTR|ZNF138_ENST00000307355.7_Silent_p.V92V|ZNF138_ENST00000494380.1_3'UTR|ZNF138_ENST00000397136.2_Silent_p.V35V NM_001271637.1|NM_001271639.1 NP_001258566.1|NP_001258568.1 B4DP87 B4DP87_HUMAN zinc finger protein 138 66 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding kidney(1)|large_intestine(3)|lung(2)|stomach(1) 7 Lung NSC(55;0.0795)|all_lung(88;0.18) TCCAAAAAGTGACACTGAGCA 0.368000 28 61 0 0 1 0 0 PIDD 55367 broad.mit.edu 37 11 799999 799999 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr11:799999C>T ENST00000347755.5 - 15 2431 c.2290G>A c.(2290-2292)Gag>Aag p.E764K PIDD_ENST00000411829.2_Missense_Mutation_p.E747K NM_145886.3|NM_145887.3 NP_665893.2|NP_665894.2 Q9HB75 PIDD_HUMAN p53-induced death domain protein 764 apoptosis|signal transduction cytoplasm|nucleus death receptor binding CGTGGCCCCTCGGACCCTCGA 0.632000 10 10 0 0 1 0 0 CLCN3 1182 broad.mit.edu 37 4 170618377 170618377 + Nonsense_Mutation SNP C C A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr4:170618377C>A ENST00000513761.1 + 9 1614 c.1055C>A c.(1054-1056)tCa>tAa p.S352* CLCN3_ENST00000504131.2_Nonsense_Mutation_p.S335*|CLCN3_ENST00000347613.4_Nonsense_Mutation_p.S352*|CLCN3_ENST00000360642.3_Nonsense_Mutation_p.S325* NM_001829.3 NP_001820.2 P51790 CLCN3_HUMAN chloride channel, voltage-sensitive 3 352 endosomal lumen acidification cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 29 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) TTATGGAGATCATTTTTTGCT 0.318000 45 8 1.62263e-30 1.77195e-30 1 1 0 PDS5B 23047 broad.mit.edu 37 13 33320191 33320191 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr13:33320191G>A ENST00000315596.10 + 24 2875 c.2689G>A c.(2689-2691)Gaa>Aaa p.E897K NM_015032.3 NP_055847.1 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) 897 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 62 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) CTGTTACCATGAAATCATCAC 0.383000 34 27 0 0 1 0 0 OSBPL8 114882 broad.mit.edu 37 12 76780014 76780014 + Silent SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr12:76780014G>A ENST00000261183.3 - 14 1946 c.1467C>T c.(1465-1467)ggC>ggT p.G489G OSBPL8_ENST00000393250.4_Silent_p.G447G|OSBPL8_ENST00000393249.2_Silent_p.G447G NM_020841.4 NP_065892.1 Q9BZF1 OSBL8_HUMAN oxysterol binding protein-like 8 489 lipid transport lipid binding p.G489G(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2) 28 GGAAAGTCTCGCCAAGTATAG 0.308000 29 41 0 0 1 0 0 NXPE2 120406 broad.mit.edu 37 11 114568875 114568875 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr11:114568875G>A ENST00000375475.5 + 3 339 c.241G>A c.(241-243)Gaa>Aaa p.E81K NXPE2_ENST00000389586.4_Missense_Mutation_p.E81K neurexophilin and PC-esterase domain family, member 2 AAAAGAGACTGAACTTAGAAT 0.438000 13 11 0 0 1 0 0 SLC9B1 150159 broad.mit.edu 37 4 103827759 103827759 + Nonsense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr4:103827759G>A ENST00000296422.7 - 10 1270 c.1129C>T c.(1129-1131)Caa>Taa p.Q377* SLC9B1_ENST00000394789.3_Nonsense_Mutation_p.Q377*|SLC9B1_ENST00000512651.2_Intron NM_139173.3 NP_631912 Q4ZJI4 NHDC1_HUMAN solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 377 integral to membrane solute:hydrogen antiporter activity AGAAGTGGTTGAAAAATATCC 0.279000 26 7 0 0 1 0 0 PLIN4 729359 broad.mit.edu 37 19 4510759 4510759 + Missense_Mutation SNP C C A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr19:4510759C>A ENST00000301286.3 - 3 3170 c.3171G>T c.(3169-3171)agG>agT p.R1057S NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 1057 lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 TGTCTGTGGTCCTGGAACTGG 0.652000 21 17 7.41877e-09 7.79081e-09 1 1 0 SPATA20 64847 broad.mit.edu 37 17 48631805 48631805 + Silent SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr17:48631805C>T ENST00000006658.6 + 15 2271 c.2151C>T c.(2149-2151)ctC>ctT p.L717L SPATA20_ENST00000393244.3_Silent_p.L657L|SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000356488.4_Silent_p.L701L NM_022827.3 NP_073738.2 Q8TB22 SPT20_HUMAN spermatogenesis associated 20 701 cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis extracellular region mannose-6-phosphate isomerase activity|protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;9.38e-09) AGCAGACCCTCAAGCAGGTGG 0.662000 18 29 0 0 1 0 0 MAFG 4097 broad.mit.edu 37 17 79880793 79880793 + Silent SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr17:79880793G>C ENST00000357736.4 - 3 392 c.177C>G c.(175-177)ctC>ctG p.L59L MAFG_ENST00000392366.3_Silent_p.L59L|RP11-498C9.12_ENST00000580897.1_RNA NM_002359.3|NM_032711.3 NP_002350.1|NP_116100.2 O15525 MAFG_HUMAN v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog G 59 blood coagulation nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|lung(1) 3 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) CGCGGTTCTTGAGCGTGCGCC 0.657000 4 13 0 0 1 0 0 SLC6A1 6529 broad.mit.edu 37 3 11067216 11067216 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr3:11067216G>A ENST00000287766.4 + 8 1217 c.796G>A c.(796-798)Gag>Aag p.E266K SLC6A1_ENST00000536032.1_Missense_Mutation_p.E88K NM_003042.3 NP_003033.3 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter transporter), member 1 266 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity p.E266K(1) breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) CGGGGCCAAGGAGGGCATCCT 0.572000 30 39 0 0 1 0 0 KCNH4 23415 broad.mit.edu 37 17 40328187 40328187 + Missense_Mutation SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr17:40328187G>C ENST00000264661.3 - 5 1046 c.714C>G c.(712-714)ttC>ttG p.F238L KCNH4_ENST00000607371.1_Missense_Mutation_p.F238L NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 238 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) CCGCAACGTAGAAGGTGGCAA 0.607000 42 59 0 0 1 0 0 DACT1 51339 broad.mit.edu 37 14 59108358 59108358 + Missense_Mutation SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr14:59108358C>G ENST00000395153.3 + 3 674 c.527C>G c.(526-528)tCt>tGt p.S176C DACT1_ENST00000541264.2_5'UTR|DACT1_ENST00000556859.1_5'UTR|DACT1_ENST00000555845.1_3'UTR|DACT1_ENST00000335867.4_Missense_Mutation_p.S176C NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 176 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 TCCAATTCCTCTAACTCGGTG 0.448000 58 42 0 0 1 0 0 TAF6L 10629 broad.mit.edu 37 11 62546432 62546432 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr11:62546432G>A ENST00000294168.3 + 6 729 c.528G>A c.(526-528)atG>atA p.M176I TMEM223_ENST00000527073.1_Intron NM_006473.3 NP_006464.1 Q9Y6J9 TAF6L_HUMAN TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa 176 chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent histone deacetylase complex|STAGA complex DNA binding|protein binding|transcription coactivator activity endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1) 16 CGCAACTGATGAAGGTGAGCG 0.463000 20 45 0 0 1 0 0 RSPH4A 345895 broad.mit.edu 37 6 116949065 116949065 + Missense_Mutation SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr6:116949065C>G ENST00000229554.5 + 3 1332 c.1195C>G c.(1195-1197)Cat>Gat p.H399D RSPH4A_ENST00000368580.4_Intron|RSPH4A_ENST00000368581.4_Missense_Mutation_p.H399D NM_001010892.2 NP_001010892.1 Q5TD94 RSH4A_HUMAN radial spoke head 4 homolog A (Chlamydomonas) 399 Glu-rich. cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton|radial spoke breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 aagtgaagctcatgaagatga 0.413000 Kartagener syndrome 24 25 0 0 1 0 0 ATAD5 79915 broad.mit.edu 37 17 29161548 29161548 + Missense_Mutation SNP A A C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr17:29161548A>C ENST00000321990.4 + 2 827 c.449A>C c.(448-450)gAt>gCt p.D150A CTD-2349P21.11_ENST00000580873.1_RNA NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 150 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) TTAAATAATGATTTTGTGGAA 0.294000 46 183 0 0 1 0 0 MTO1 25821 broad.mit.edu 37 6 74191946 74191946 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr6:74191946G>A ENST00000498286.1 + 8 1721 c.1444G>A c.(1444-1446)Gac>Aac p.D482N MTO1_ENST00000415954.2_Missense_Mutation_p.D522N|MTO1_ENST00000370305.1_Missense_Mutation_p.D433N|MTO1_ENST00000370300.4_Missense_Mutation_p.D507N Q9Y2Z2 MTO1_HUMAN mitochondrial tRNA translation optimization 1 507 tRNA processing mitochondrion flavin adenine dinucleotide binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1) 27 TGATAATGCTGACAGCCGGCT 0.517000 30 31 0 0 1 0 0 B4GALNT2 124872 broad.mit.edu 37 17 47246260 47246260 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr17:47246260C>T ENST00000300404.2 + 10 1552 c.1493C>T c.(1492-1494)tCa>tTa p.S498L B4GALNT2_ENST00000504681.1_Missense_Mutation_p.S412L|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.S438L NM_153446.2 NP_703147.2 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 498 lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) GTGGCTCACTCAGGTGGGAAG 0.577000 8 19 0 0 1 0 0 LRRC8A 56262 broad.mit.edu 37 9 131671124 131671124 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr9:131671124G>A ENST00000259324.5 + 3 2204 c.1681G>A c.(1681-1683)Gtg>Atg p.V561M LRRC8A_ENST00000372600.4_Missense_Mutation_p.V561M|LRRC8A_ENST00000372599.3_Missense_Mutation_p.V561M NM_001127244.1 NP_001120716.1 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member A 561 pre-B cell differentiation integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3) 28 GCTGCCACAGGTGGTCACAGA 0.582000 16 35 0 0 1 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23816119 23816119 + Missense_Mutation SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr4:23816119C>G ENST00000264867.2 - 8 1106 c.987G>C c.(985-987)aaG>aaC p.K329N PPARGC1A_ENST00000509702.1_5'UTR NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 329 Interaction with PPARG. androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) ACCTGGGCTTCTTTGATGGTG 0.507000 55 49 0 0 1 0 0 RBM14 10432 broad.mit.edu 37 11 66384203 66384203 + Silent SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr11:66384203C>T ENST00000310137.4 + 1 151 c.12C>T c.(10-12)ttC>ttT p.F4F RBM14_ENST00000443702.1_Silent_p.F4F|RBM14_ENST00000409738.4_Silent_p.F4F|RBM4_ENST00000503028.2_5'UTR|RBM14_ENST00000393979.3_Silent_p.F4F|RBM14-RBM4_ENST00000511114.1_3'UTR|RBM14-RBM4_ENST00000412278.2_Silent_p.F4F|RBM4_ENST00000514361.3_Silent_p.F4F|RBM14-RBM4_ENST00000500635.2_Silent_p.F4F|RBM14_ENST00000409372.1_Silent_p.F4F NM_006328.3 NP_006319.1 Q96PK6 RBM14_HUMAN RNA binding motif protein 14 4 RRM 1. DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus mediator complex|ribonucleoprotein complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity RBM14/PACS1(2) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 TGAAGATATTCGTGGGCAACG 0.627000 13 11 0 0 1 0 0 CAMSAP2 23271 broad.mit.edu 37 1 200817643 200817643 + Missense_Mutation SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr1:200817643C>G ENST00000358823.2 + 11 2016 c.1746C>G c.(1744-1746)atC>atG p.I582M CAMSAP2_ENST00000413307.2_Missense_Mutation_p.I566M|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.I593M NM_203459.1 NP_982284.1 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein family, member 2 593 cytoplasm|microtubule protein binding ATTCAAATATCAAGTTAAATC 0.358000 22 88 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179425197 179425197 + Silent SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr2:179425197G>A ENST00000589042.1 - 326 85886 c.85662C>T c.(85660-85662)ccC>ccT p.P28554P TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.P19614P|TTN_ENST00000460472.2_Silent_p.P19489P|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.P25986P|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.P19681P|TTN_ENST00000591111.1_Silent_p.P26913P|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26913 Ig-like 132. 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) CCAAAGACGTGGGTGGACTTG 0.393000 16 8 0 0 1 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94652079 94652079 + Missense_Mutation SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr1:94652079C>G ENST00000260526.6 - 16 1938 c.1756G>C c.(1756-1758)Gag>Cag p.E586Q ARHGAP29_ENST00000482481.1_5'UTR NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 586 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) GAAGGTGGCTCTCTTTCATCT 0.388000 44 51 0 0 1 0 0 RNF157 114804 broad.mit.edu 37 17 74157697 74157697 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr17:74157697C>T ENST00000269391.6 - 11 1116 c.984G>A c.(982-984)atG>atA p.M328I RNF157_ENST00000319945.6_Missense_Mutation_p.M328I NM_052916.2 NP_443148.1 Q96PX1 RN157_HUMAN ring finger protein 157 328 zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 25 LUSC - Lung squamous cell carcinoma(166;0.187) ATTTTTTCCTCATGGCTCGGA 0.507000 16 23 0 0 1 0 0 ESYT1 23344 broad.mit.edu 37 12 56536420 56536420 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr12:56536420C>T ENST00000394048.5 + 26 3056 c.2792C>T c.(2791-2793)tCc>tTc p.S931F ESYT1_ENST00000267113.4_Missense_Mutation_p.S941F|ESYT1_ENST00000541590.1_Missense_Mutation_p.S941F|ESYT1_ENST00000550878.1_3'UTR NM_001184796.1|NM_015292.2 NP_001171725.1|NP_056107.1 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 931 Poly-Ser. integral to membrane breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 28 AGCCACAGCTCCTCATCGCTG 0.587000 25 38 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43840442 43840442 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr12:43840442G>A ENST00000389420.3 - 15 2152 c.2153C>T c.(2152-2154)tCt>tTt p.S718F ADAMTS20_ENST00000553158.1_Missense_Mutation_p.S718F NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 718 Cys-rich. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CTTGCATGAAGAGTTGTCCCC 0.373000 17 26 0 0 1 0 0 PEX13 5194 broad.mit.edu 37 2 61258581 61258581 + Missense_Mutation SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr2:61258581G>C ENST00000295030.5 + 2 158 c.120G>C c.(118-120)atG>atC p.M40I PEX13_ENST00000472678.1_3'UTR NM_002618.3 NP_002609.1 Q92968 PEX13_HUMAN peroxisomal biogenesis factor 13 cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior integral to peroxisomal membrane|membrane fraction protein binding endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114) CTACTTTAATGACAAGACCTG 0.388000 32 26 0 0 1 0 0 POLR2A 5430 broad.mit.edu 37 17 7399872 7399872 + Silent SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr17:7399872G>A ENST00000322644.6 + 4 876 c.477G>A c.(475-477)gaG>gaA p.E159E POLR2A_ENST00000572844.1_Silent_p.E159E NM_000937.4 NP_000928 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 159 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) GTGGGGAGGAGATGGACAACA 0.542000 38 42 0 0 1 0 0 ARID1B 57492 broad.mit.edu 37 6 157150430 157150430 + Nonsense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr6:157150430C>T ENST00000346085.5 + 2 1613 c.1612C>T c.(1612-1614)Cag>Tag p.Q538* ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q538*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q480*|ARID1B_ENST00000350026.5_Nonsense_Mutation_p.Q538* NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 538 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CCCTCATTCTCAGCCTCAGCA 0.552000 31 41 0 0 1 0 0 SLC9A7P1 121456 broad.mit.edu 37 12 98849730 98849730 + RNA SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr12:98849730G>A ENST00000554295.1 - 0 1193 NR_033801.1 GAGCTTGTGTGATTCCACAGA 0.493000 53 73 0 0 1 0 0 ACTB 60 broad.mit.edu 37 7 5568242 5568242 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr7:5568242C>T ENST00000331789.5 - 4 663 c.472G>A c.(472-474)Ggg>Agg p.G158R NM_001101.3 NP_001092.1 P60709 ACTB_HUMAN actin, beta 158 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2) 8 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) TGGGTGACCCCGTCACCGGAG 0.607000 49 32 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118342400 118342400 + Missense_Mutation SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr11:118342400C>G ENST00000534358.1 + 3 549 c.526C>G c.(526-528)Cgt>Ggt p.R176G KMT2A_ENST00000389506.5_Missense_Mutation_p.R176G|KMT2A_ENST00000354520.4_Missense_Mutation_p.R176G NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A TCGAAAACCTCGTGGGAGACC 0.368000 24 12 0 0 1 0 0 FUT10 84750 broad.mit.edu 37 8 33230132 33230132 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr8:33230132G>A ENST00000327671.5 - 5 2034 c.1403C>T c.(1402-1404)tCa>tTa p.S468L FUT10_ENST00000524021.1_Missense_Mutation_p.S440L|FUT10_ENST00000518672.1_Missense_Mutation_p.S440L NM_032664.3 NP_116053.3 Q6P4F1 FUT10_HUMAN fucosyltransferase 10 (alpha (1,3) fucosyltransferase) 468 embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 29 KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154) CTCTTGAGATGAAAAGTTTTG 0.413000 37 4 0 0 1 0 0 SH3PXD2B 285590 broad.mit.edu 37 5 171789745 171789745 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr5:171789745C>T ENST00000311601.5 - 7 726 c.556G>A c.(556-558)Gag>Aag p.E186K SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.E186K NM_001017995.2 NP_001017995.1 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 186 SH3 1. adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CCACCTGACTCATTCTTCTCG 0.552000 16 29 0 0 1 0 0 TAF1B 9014 broad.mit.edu 37 2 10008411 10008411 + Missense_Mutation SNP G G A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr2:10008411G>A ENST00000263663.5 + 6 594 c.406G>A c.(406-408)Gaa>Aaa p.E136K TAF1B_ENST00000396242.3_5'UTR|TAF1B_ENST00000402170.1_3'UTR NM_005680.2 NP_005671 Q53T94 TAF1B_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa 136 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) ACAGGTATTAGAAGATAATCT 0.368000 26 17 0 0 1 0 0 ELF3 1999 broad.mit.edu 37 1 201981563 201981565 + Splice_Site DEL TGG TGG - TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr1:201981563_201981565delTGG ENST00000359651.3 + 3 3669_3670 c.477_478delTGG c.(475-480)tttgga>ttga p.159_160FG>L ELF3_ENST00000495848.1_3'UTR|ELF3_ENST00000367283.3_Splice_Site_p.159_160FG>L|ELF3_ENST00000367284.5_Splice_Site_p.159_160FG>L|RP11-510N19.5_ENST00000504773.1_RNA P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 159 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 CAGGGCCCTTTGGTGAGAACCCG 0.581 18 18 --- --- --- --- GREB1 9687 broad.mit.edu 37 2 11765359 11765360 + Frame_Shift_Ins INS - - A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr2:11765359_11765360insA ENST00000381486.2 + 24 4527_4528 c.4227_4228insA c.(4228-4230)tttfs p.F1410fs GREB1_ENST00000396123.1_Frame_Shift_Ins_p.F408fs|GREB1_ENST00000234142.5_Frame_Shift_Ins_p.F1410fs NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1410 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) AGAAGTTGCCCTTTGACTACAT 0.460 114 233 --- --- --- --- CTD-2140G10.2 0 broad.mit.edu 37 11 22334218 22334219 + RNA INS - - A rs140765474 by1000genomes TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr11:22334218_22334219insA ENST00000528009.1 - 0 251 ATCAGGAGGAGAAAATCTACAT 0.391 2 4 --- --- --- --- LOC102723809 102723809 broad.mit.edu 37 14 65002600 65002601 + RNA INS - - G rs138724814 by1000genomes TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr14:65002600_65002601insG ENST00000554918.1 - 0 52 GGGGGAGTCCAccccttttgct 0.594 2 4 --- --- --- --- EP300 2033 broad.mit.edu 37 22 41554442 41554445 + Frame_Shift_Del DEL TTGC TTGC - TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7cebd9d9-bbac-4dee-86e2-d4eeb8c25ade 7ef6d222-c947-4e04-a965-80a6abb68393 g.chr22:41554442_41554445delTTGC ENST00000263253.7 + 19 4747_4750 c.3528_3531delTTGC c.(3526-3531)tgttgcfs p.CC1176fs NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1176 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 AGACACTGTGTTGCTACGGCAAAC 0.461 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 25 27 --- --- --- ---