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 KIAA1210 57481 broad.mit.edu 37 X 118228014 118228014 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chrX:118228014C>G ENST00000402510.2 - 9 1311 c.1312G>C c.(1312-1314)Gag>Cag p.E438Q NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 438 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 AGGGATCCCTCTAAAATACCC 0.483000 32 5 0 0 1 0 0 ZCCHC8 55596 broad.mit.edu 37 12 122962400 122962400 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr12:122962400C>G ENST00000543897.1 - 11 2974 c.619G>C c.(619-621)Gag>Cag p.E207Q ZCCHC8_ENST00000538116.1_Missense_Mutation_p.E56Q|ZCCHC8_ENST00000336229.4_Missense_Mutation_p.E445Q|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.E207Q Q6NZY4 ZCHC8_HUMAN zinc finger, CCHC domain containing 8 445 catalytic step 2 spliceosome nucleic acid binding|protein binding|zinc ion binding endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202) GAATCGAGCTCCATGTCGGCG 0.463000 10 14 0 0 1 0 0 BMS1 9790 broad.mit.edu 37 10 43292652 43292652 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr10:43292652G>C ENST00000374518.5 + 10 2023 c.1960G>C c.(1960-1962)Gaa>Caa p.E654Q NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TTACAAGGAAGAAAATAATGA 0.383000 5 37 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185803013 185803013 + Missense_Mutation SNP T T C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr2:185803013T>C ENST00000302277.6 + 4 3484 c.2890T>C c.(2890-2892)Tca>Cca p.S964P NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 964 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 CTTTAGACAGTCACAGCCTAA 0.393000 26 65 0 0 1 0 0 USP32 84669 broad.mit.edu 37 17 58289433 58289433 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:58289433C>G ENST00000300896.4 - 19 2325 c.2131G>C c.(2131-2133)Gag>Cag p.E711Q USP32_ENST00000592339.1_Missense_Mutation_p.E381Q NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 711 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) GACATCTCCTCAGGCCAACTC 0.289000 10 43 0 0 1 0 0 CELF2 10659 broad.mit.edu 37 10 11367804 11367804 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr10:11367804G>C ENST00000379261.4 + 12 1353 c.1261G>C c.(1261-1263)Gag>Cag p.E421Q CELF2_ENST00000399850.3_Missense_Mutation_p.E403Q|CELF2_ENST00000450189.1_Missense_Mutation_p.E434Q|CELF2_ENST00000608830.1_Missense_Mutation_p.E401Q|CELF2_ENST00000542579.1_Missense_Mutation_p.E434Q|CELF2_ENST00000537122.1_Missense_Mutation_p.E316Q|CELF2_ENST00000609692.1_Intron|CELF2_ENST00000427450.1_Missense_Mutation_p.E403Q|CELF2_ENST00000354440.2_Missense_Mutation_p.E403Q|CELF2_ENST00000417956.2_Missense_Mutation_p.E401Q|CELF2_ENST00000416382.2_Missense_Mutation_p.E421Q|CELF2_ENST00000315874.4_Missense_Mutation_p.E403Q|CELF2_ENST00000354897.3_Missense_Mutation_p.E415Q NM_001025077.2 NP_001020248.1 O95319 CELF2_HUMAN CUGBP, Elav-like family member 2 421 Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion. mRNA processing|regulation of heart contraction cytoplasm|nucleus nucleotide binding|protein binding|RNA binding p.E422K(1) breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 16 CTTAGGTCCAGAGGGGGCAAA 0.418000 11 36 0 0 1 0 0 RTDR1 27156 broad.mit.edu 37 22 23406202 23406202 + Silent SNP G G T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr22:23406202G>T ENST00000216036.4 - 5 727 c.531C>A c.(529-531)ctC>ctA p.L177L NM_014433.2 NP_055248.1 Q9UHP6 RTDR1_HUMAN rhabdoid tumor deletion region gene 1 177 binding breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 18 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.175) CCTGCAGGCAGAGGACCAGTG 0.582000 7 16 2.0095e-06 2.09217e-06 1 1 0 TYW3 127253 broad.mit.edu 37 1 75204401 75204401 + Translation_Start_Site SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:75204401G>A ENST00000479111.1 + 0 346 TYW3_ENST00000421739.2_Intron|TYW3_ENST00000370867.3_Missense_Mutation_p.D95N|TYW3_ENST00000457880.2_Intron Q6IPR3 TYW3_HUMAN tRNA-yW synthesizing protein 3 homolog (S. cerevisiae) tRNA processing methyltransferase activity central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1) 15 AGCAAATGGTGATGCCACTTT 0.378000 9 16 0 0 1 0 0 TRDMT1 1787 broad.mit.edu 37 10 17216603 17216603 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr10:17216603C>T ENST00000377799.3 - 2 168 c.121G>A c.(121-123)Gaa>Aaa p.E41K TRDMT1_ENST00000377766.5_Missense_Mutation_p.E41K|TRDMT1_ENST00000412821.3_Missense_Mutation_p.E41K|TRDMT1_ENST00000358282.7_Missense_Mutation_p.E41K|TRDMT1_ENST00000457442.2_Missense_Mutation_p.M7I|TRDMT1_ENST00000488990.1_Missense_Mutation_p.E41K|TRDMT1_ENST00000351358.4_Missense_Mutation_p.E41K NM_004412.5 NP_004403.1 O14717 TRDMT_HUMAN tRNA aspartic acid methyltransferase 1 41 tRNA processing nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1) 18 TTGTATACTTCATTAGCGACA 0.363000 16 47 0 0 1 0 0 SRCIN1 80725 broad.mit.edu 37 17 36704795 36704795 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:36704795C>G ENST00000264659.7 - 17 3492 c.3268G>C c.(3268-3270)Gag>Cag p.E1090Q SRCIN1_ENST00000578925.1_Missense_Mutation_p.E1124Q|SRCIN1_ENST00000398579.4_5'UTR NM_025248.2 NP_079524.2 Q9C0H9 SRCN1_HUMAN SRC kinase signaling inhibitor 1 962 exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 19 TGACCTACCTCTAGCTCTGCG 0.662000 22 58 0 0 1 0 0 MIR646HG 284757 broad.mit.edu 37 20 58883542 58883542 + RNA SNP C C A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr20:58883542C>A ENST00000432910.1 + 0 332 MIR646_ENST00000385067.1_RNA NR_046099.1 gatcaggagtctgccagtgga 0.572000 9 23 0.00621372 0.00629019 1 1 0 METTL14 57721 broad.mit.edu 37 4 119613186 119613186 + Missense_Mutation SNP C C A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr4:119613186C>A ENST00000388822.5 + 5 542 c.375C>A c.(373-375)gaC>gaA p.D125E METTL14_ENST00000506780.1_Missense_Mutation_p.D87E Q9HCE5 MTL14_HUMAN methyltransferase like 14 nucleus mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1) 16 ATTTTGTAGACACTGGACATA 0.353000 22 59 1.96895e-08 2.07623e-08 1 1 0 TRIO 7204 broad.mit.edu 37 5 14358313 14358313 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr5:14358313G>A ENST00000344204.4 + 12 2097 c.2073G>A c.(2071-2073)caG>caA p.Q691Q TRIO_ENST00000509967.2_Silent_p.Q642Q|TRIO_ENST00000537187.1_Silent_p.Q691Q NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 691 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) AGGAGCTGCAGAAGGAGCTGC 0.687000 8 17 0 0 1 0 0 BRD1 23774 broad.mit.edu 37 22 50187866 50187866 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr22:50187866G>A ENST00000216267.8 - 6 2661 c.2175C>T c.(2173-2175)ctC>ctT p.L725L BRD1_ENST00000342989.5_Silent_p.L320L|BRD1_ENST00000404760.1_Silent_p.L725L|BRD1_ENST00000457780.2_Silent_p.L725L|BRD1_ENST00000404034.1_Silent_p.L725L|BRD1_ENST00000542442.1_Silent_p.L413L NM_014577.1 NP_055392.1 O95696 BRD1_HUMAN bromodomain containing 1 725 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) AGGTGAGGTCGAGCATGTCCA 0.597000 17 32 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126708282 126708282 + Silent SNP C C T rs146246704 TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr3:126708282C>T ENST00000251772.4 + 1 846 c.777C>T c.(775-777)atC>atT p.I259I PLXNA1_ENST00000393409.2_Silent_p.I282I Q9UIW2 PLXA1_HUMAN plexin A1 282 Sema. axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) CGTCCAAGATCGTGCGGCTCT 0.602000 50 138 0 0 1 0 0 UMODL1 89766 broad.mit.edu 37 21 43541202 43541202 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr21:43541202G>A ENST00000400424.2 + 16 2875 c.2479G>A c.(2479-2481)Gat>Aat p.D827N UMODL1_ENST00000400427.1_Missense_Mutation_p.D955N|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000408910.2_Missense_Mutation_p.D899N|UMODL1_ENST00000408989.2_Missense_Mutation_p.D1027N NM_001199528.2 NP_001186457 Q5DID0 UROL1_HUMAN uromodulin-like 1 SEA 2. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 TGCAGATTACGATGAGTGTGA 0.537000 21 61 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs60608267 by1000genomes TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr12:132547093A>G ENST00000333577.4 + 48 8398 c.8289A>G c.(8287-8289)caA>caG p.Q2763Q EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000389562.2_Silent_p.Q2726Q Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagc 0.567000 6 36 0 0 1 0 0 SYTL2 54843 broad.mit.edu 37 11 85445049 85445049 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr11:85445049G>C ENST00000316356.4 - 7 1887 c.1323C>G c.(1321-1323)atC>atG p.I441M SYTL2_ENST00000528231.1_Missense_Mutation_p.I440M|SYTL2_ENST00000389960.4_Missense_Mutation_p.I440M|SYTL2_ENST00000527523.1_Missense_Mutation_p.I392M|SYTL2_ENST00000524452.1_Missense_Mutation_p.I440M Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 440 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) TGGGTTCATTGATGGTTGGTG 0.383000 30 64 0 0 1 0 0 FOSB 2354 broad.mit.edu 37 19 45976195 45976195 + Silent SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:45976195C>T ENST00000353609.3 + 4 1534 c.942C>T c.(940-942)ttC>ttT p.F314F FOSB_ENST00000592436.1_3'UTR|FOSB_ENST00000417353.2_Silent_p.F278F|FOSB_ENST00000585836.1_Silent_p.F239F|FOSB_ENST00000591858.1_Silent_p.F275F|FOSB_ENST00000586615.1_Silent_p.F265F|FOSB_ENST00000443841.2_Silent_p.F171F|FOSB_ENST00000592811.1_3'UTR|ERCC1_ENST00000423698.2_Intron NM_006732.2 NP_006723.2 P53539 FOSB_HUMAN FBJ murine osteosarcoma viral oncogene homolog B 314 behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1) 13 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242) TCTCCGCGTTCGCCGGCGCCC 0.577000 22 66 0 0 1 0 0 SERPINB6 5269 broad.mit.edu 37 6 2948867 2948867 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr6:2948867C>T ENST00000380520.1 - 6 2790 c.796G>A c.(796-798)Gag>Aag p.E266K SERPINB6_ENST00000380524.1_Missense_Mutation_p.E266K|SERPINB6_ENST00000335686.5_Missense_Mutation_p.E266K|SERPINB6_ENST00000380529.1_Missense_Mutation_p.E266K|SERPINB6_ENST00000380539.1_Missense_Mutation_p.E266K|SERPINB6_ENST00000380546.3_Missense_Mutation_p.E266K P35237 SPB6_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 6 266 regulation of proteolysis centrosome|cytosol|protein complex protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2) 17 Ovarian(93;0.0412) all_hematologic(90;0.0895) Drotrecogin alfa(DB00055) ACTTCCACCTCCTCTTCATCC 0.517000 56 122 0 0 1 0 0 INTS2 57508 broad.mit.edu 37 17 59946642 59946642 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:59946642C>G ENST00000444766.3 - 22 3229 c.3154G>C c.(3154-3156)Gag>Cag p.E1052Q INTS2_ENST00000251334.6_Missense_Mutation_p.E1044Q NM_020748.2 NP_065799 Q9H0H0 INT2_HUMAN integrator complex subunit 2 1052 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 38 ACCTGTTTCTCAAGTTCTGGC 0.378000 14 14 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7503406 7503406 + Silent SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr3:7503406C>G ENST00000486284.1 + 7 1786 c.1512C>G c.(1510-1512)ctC>ctG p.L504L GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000357716.4_Silent_p.L504L|GRM7_ENST00000403881.1_Silent_p.L504L|GRM7_ENST00000389336.4_Silent_p.L504L|GRM7_ENST00000402647.2_Silent_p.L504L NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 504 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) AACTTCAGCTCAATGTGAGTT 0.443000 19 75 0 0 1 0 0 KAT6A 7994 broad.mit.edu 37 8 41790517 41790517 + Missense_Mutation SNP C C A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr8:41790517C>A ENST00000396930.3 - 18 5764 c.5221G>T c.(5221-5223)Gcc>Tcc p.A1741S KAT6A_ENST00000406337.1_Missense_Mutation_p.A1741S|KAT6A_ENST00000265713.2_Missense_Mutation_p.A1741S NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1741 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding TAGCTGCCGGCACCAAAATCC 0.498000 34 75 8.88839e-20 9.68305e-20 1 1 0 PCDHB1 29930 broad.mit.edu 37 5 140433360 140433360 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr5:140433360C>G ENST00000306549.3 + 1 2382 c.2305C>G c.(2305-2307)Cgc>Ggc p.R769G NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 769 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TAGTGAGTTTCGCTTTCTTAA 0.463000 29 66 0 0 1 0 0 COL18A1 80781 broad.mit.edu 37 21 46888254 46888254 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr21:46888254G>A ENST00000359759.4 + 2 1471 c.1450G>A c.(1450-1452)Gtc>Atc p.V484I COL18A1_ENST00000400337.2_Missense_Mutation_p.V69I|COL18A1_ENST00000355480.5_Missense_Mutation_p.V249I P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 484 TSP N-terminal. cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) GCTGGCCTACGTCTTTGGGCC 0.657000 32 53 0 0 1 0 0 SHC4 399694 broad.mit.edu 37 15 49148320 49148320 + Splice_Site SNP C C A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr15:49148320C>A ENST00000332408.4 - 8 1500 c.1072G>T c.(1072-1074)Gag>Tag p.E358* SHC4_ENST00000396535.3_Splice_Site_p.E115*|SHC4_ENST00000537958.1_Splice_Site_p.E72* NM_203349.3 NP_976224.3 Q6S5L8 SHC4_HUMAN SHC (Src homology 2 domain containing) family, member 4 358 PID. intracellular signal transduction cell junction|postsynaptic membrane breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 29 all_lung(180;0.00466) all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07) TGCACCTCCTCACTGTGAAGG 0.428000 27 54 4.47668e-21 4.89311e-21 1 1 0 ZNF665 79788 broad.mit.edu 37 19 53678789 53678789 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:53678789G>A ENST00000396424.3 - 3 140 c.51C>T c.(49-51)ttC>ttT p.F17F ZNF665_ENST00000600412.1_Intron NM_024733.3 NP_079009.3 Q9H7R5 ZN665_HUMAN zinc finger protein 665 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) CCTCCTGAGAGAATTCTATGG 0.438000 26 100 0 0 1 0 0 TBK1 29110 broad.mit.edu 37 12 64882283 64882283 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr12:64882283G>A ENST00000331710.5 + 12 1696 c.1357G>A c.(1357-1359)Gat>Aat p.D453N NM_013254.3 NP_037386.1 Q9UHD2 TBK1_HUMAN TANK-binding kinase 1 453 I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1) 20 GBM - Glioblastoma multiforme(28;0.0386) AATTAAAGATGATTACAATGA 0.269000 7 8 0 0 1 0 0 UBA1 7317 broad.mit.edu 37 X 47062396 47062396 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chrX:47062396G>A ENST00000335972.6 + 12 1471 c.1288G>A c.(1288-1290)Gag>Aag p.E430K UBA1_ENST00000490869.1_3'UTR|UBA1_ENST00000377351.4_Missense_Mutation_p.E430K NM_003334.3 NP_003325.2 P22314 UBA1_HUMAN ubiquitin-like modifier activating enzyme 1 430 2 approximate repeats. cell death|protein modification process ATP binding|ligase activity|protein binding|small protein activating enzyme activity breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 TGATGCCCTTGAGTGTCTCCC 0.582000 39 5 0 0 1 0 0 MLNR 2862 broad.mit.edu 37 13 49796426 49796426 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr13:49796426G>A ENST00000218721.1 + 2 1152 c.1152G>A c.(1150-1152)agG>agA p.R384R MLNR_ENST00000398307.1_3'UTR NM_001507.1 NP_001498.1 O43193 MTLR_HUMAN motilin receptor 384 digestion integral to plasma membrane growth hormone-releasing hormone receptor activity endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1) 14 all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;6.1e-09) ACAGAAGCAGGGACACTGCGG 0.567000 18 39 0 0 1 0 0 FAM118A 55007 broad.mit.edu 37 22 45728377 45728377 + Missense_Mutation SNP G G T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr22:45728377G>T ENST00000216214.3 + 7 1557 c.723G>T c.(721-723)caG>caT p.Q241H FAM118A_ENST00000441876.2_Missense_Mutation_p.Q241H|FAM118A_ENST00000405548.3_Missense_Mutation_p.Q59H NM_001104595.1 NP_001098065.1 Q9NWS6 F118A_HUMAN family with sequence similarity 118, member A 241 integral to membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 11 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) TTCGTGATCAGATATTCCAGG 0.463000 42 67 3.78316e-11 4.0411e-11 1 1 0 NCOR1 9611 broad.mit.edu 37 17 15960870 15960870 + Nonsense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:15960870G>C ENST00000268712.3 - 40 6607 c.6350C>G c.(6349-6351)tCa>tGa p.S2117* NCOR1_ENST00000395851.1_Nonsense_Mutation_p.S2014*|NCOR1_ENST00000395857.3_Nonsense_Mutation_p.S701* NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 2117 Interaction with C1D (By similarity). 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) AGAGACCCTTGAACCTGGTCT 0.408000 33 62 0 0 1 0 0 SLC9A5 6553 broad.mit.edu 37 16 67291253 67291253 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr16:67291253G>C ENST00000299798.11 + 8 1406 c.1341G>C c.(1339-1341)ttG>ttC p.L447F NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 447 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) CATAGGGCTTGACCATCAAGC 0.542000 13 39 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179455032 179455032 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr2:179455032G>A ENST00000589042.1 - 304 61644 c.61420C>T c.(61420-61422)Cca>Tca p.P20474S TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P11534S|TTN_ENST00000460472.2_Missense_Mutation_p.P11409S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P17906S|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P11601S|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P18833S|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 18833 Fibronectin type-III 48. 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) TCTACTTCTGGAGGATGAAGG 0.428000 29 62 0 0 1 0 0 RAP2A 5911 broad.mit.edu 37 13 98116619 98116619 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr13:98116619G>A ENST00000245304.4 + 2 724 c.475G>A c.(475-477)Gaa>Aaa p.E159K NM_021033.6 NP_066361.1 P10114 RAP2A_HUMAN RAP2A, member of RAS oncogene family 159 actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade recycling endosome membrane GTP binding|GTPase activity|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.166) ACTCTTTGCAGAAATTGTGAG 0.478000 28 86 0 0 1 0 0 UBN1 29855 broad.mit.edu 37 16 4924401 4924401 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr16:4924401G>A ENST00000396658.4 + 14 2693 c.1990G>A c.(1990-1992)Gac>Aac p.D664N UBN1_ENST00000262376.6_Missense_Mutation_p.D664N|UBN1_ENST00000590769.1_Missense_Mutation_p.D664N|UBN1_ENST00000545171.1_Missense_Mutation_p.D664N NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 664 chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 ATTGGATGAAGACTTGATCCG 0.577000 40 102 0 0 1 0 0 WDR60 55112 broad.mit.edu 37 7 158663923 158663923 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr7:158663923G>A ENST00000407559.3 + 3 318 c.160G>A c.(160-162)Gag>Aag p.E54K NM_018051.4 NP_060521.4 Q8WVS4 WDR60_HUMAN WD repeat domain 60 54 NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2) 35 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) TGAACATAAGGAGCCGAGGTG 0.557000 8 12 0 0 1 0 0 SERPINB8 5271 broad.mit.edu 37 18 61647088 61647088 + Silent SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr18:61647088C>T ENST00000397985.2 + 3 478 c.222C>T c.(220-222)ctC>ctT p.L74L HMSD_ENST00000481726.1_3'UTR|SERPINB8_ENST00000397988.3_Silent_p.L74L|SERPINB8_ENST00000353706.2_Silent_p.L74L|SERPINB8_ENST00000542677.1_5'UTR NM_001276490.1 NP_001263419.1 P50452 SPB8_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 8 74 regulation of proteolysis cytosol protein binding|serine-type endopeptidase inhibitor activity breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1) 17 Esophageal squamous(42;0.129) AGTCACTTCTCAGTGAAGTTA 0.418000 OREG0025042 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 71 0 0 1 0 0 SLX4IP 128710 broad.mit.edu 37 20 10603663 10603663 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr20:10603663G>A ENST00000334534.5 + 8 1043 c.863G>A c.(862-864)cGa>cAa p.R288Q NM_001009608.1 NP_001009608.1 SLX4 interacting protein CAAAGTCCACGAGTGGCCAAA 0.527000 22 46 0 0 1 0 0 RPS4X 6191 broad.mit.edu 37 X 71493144 71493144 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chrX:71493144C>T ENST00000316084.6 - 6 732 c.628G>A c.(628-630)Gtg>Atg p.V210M RPS4X_ENST00000486733.1_5'UTR NM_001007.4 NP_000998.1 P62701 RS4X_HUMAN ribosomal protein S4, X-linked 210 endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|polysome rRNA binding|structural constituent of ribosome NS(1)|large_intestine(1) 2 Renal(35;0.156) GCATCTTTCACGTGAACCACG 0.463000 34 3 0 0 1 0 0 SDHA 6389 broad.mit.edu 37 5 224527 224527 + Missense_Mutation SNP G G T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr5:224527G>T ENST00000264932.6 + 3 318 c.203G>T c.(202-204)gGc>gTc p.G68V SDHA_ENST00000504309.1_Missense_Mutation_p.G68V|SDHA_ENST00000510361.1_Missense_Mutation_p.G68V NM_004168.2 NP_004159.2 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 68 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 40 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) GTGGTGGTAGGCGCTGGAGGG 0.468000 Familial Paragangliomas 50 77 5.37117e-13 5.81288e-13 1 1 0 KIAA0319L 79932 broad.mit.edu 37 1 35915552 35915552 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:35915552C>T ENST00000325722.3 - 15 2503 c.2269G>A c.(2269-2271)Gag>Aag p.E757K KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Missense_Mutation_p.E194K NM_024874.4 NP_079150.3 Q8IZA0 K319L_HUMAN KIAA0319-like 757 PKD 5. cytoplasmic vesicle part|integral to membrane protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 34 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TAGGTTCCCTCAACCAGGTTT 0.453000 35 43 0 0 1 0 0 ZCCHC6 79670 broad.mit.edu 37 9 88938224 88938224 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr9:88938224C>G ENST00000277141.6 - 14 2732 c.308G>C c.(307-309)gGa>gCa p.G103A ZCCHC6_ENST00000375960.2_Missense_Mutation_p.G691A|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.G814A|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.G814A Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 814 RNA 3'-end processing nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 46 TGTACTTTCTCCATCAAGATC 0.438000 28 62 0 0 1 0 0 SMPD4 55627 broad.mit.edu 37 2 130910919 130910919 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr2:130910919G>A ENST00000409031.1 - 18 3263 c.2115C>T c.(2113-2115)ctC>ctT p.L705L SMPD4_ENST00000351288.6_Silent_p.L676L|SMPD4_ENST00000453750.1_Silent_p.L454L|SMPD4_ENST00000443958.2_Silent_p.L369L|SMPD4_ENST00000339679.7_Silent_p.L563L|SMPD4_ENST00000426662.2_Silent_p.L341L|SMPD4_ENST00000431183.2_Silent_p.L603L|SMPD4_ENST00000452225.2_Silent_p.L446L NM_017951.4 NP_060421.2 Q9NXE4 NSMA3_HUMAN sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) 666 sphingomyelin catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Colorectal(110;0.1) Phosphatidylserine(DB00144) GCGTAAGGATGAGTCCGTCCT 0.642000 13 28 0 0 1 0 0 CDK11A 728642 broad.mit.edu 37 1 1636040 1636040 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:1636040C>T ENST00000356200.3 - 13 1645 c.1411G>A c.(1411-1413)Gag>Aag p.E471K CDK11A_ENST00000404249.3_Missense_Mutation_p.E505K|CDK11A_ENST00000357760.2_Missense_Mutation_p.E504K|CDK11A_ENST00000378638.2_Missense_Mutation_p.E471K|CDK11A_ENST00000358779.5_Missense_Mutation_p.E495K|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378633.1_Missense_Mutation_p.E508K cyclin-dependent kinase 11A central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1) 18 AGGTCGTGCTCCACGTAGTTC 0.617000 8 5 0 0 1 0 0 GDF2 2658 broad.mit.edu 37 10 48413880 48413880 + Missense_Mutation SNP T T A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr10:48413880T>A ENST00000249598.1 - 2 1147 c.988A>T c.(988-990)Acc>Tcc p.T330S NM_016204.1 NP_057288.1 Q9UK05 GDF2_HUMAN growth differentiation factor 2 330 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 28 CGCAGGGAGGTCTTTTGACAG 0.607000 24 36 0 0 1 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103416915 103416915 + Missense_Mutation SNP G G T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr14:103416915G>T ENST00000361246.2 - 25 3485 c.3197C>A c.(3196-3198)tCc>tAc p.S1066Y NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 1066 actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) GTCTTTGCAGGACACGTGGCA 0.572000 20 31 1.96292e-10 2.08997e-10 1 1 0 BUB1B 701 broad.mit.edu 37 15 40475992 40475992 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr15:40475992C>G ENST00000287598.6 + 6 854 c.659C>G c.(658-660)tCt>tGt p.S220C BUB1B_ENST00000412359.3_Missense_Mutation_p.S234C NM_001211.5 NP_001202 O60566 BUB1B_HUMAN BUB1 mitotic checkpoint serine/threonine kinase B 220 BUB1 N-terminal. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2) 36 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) TTTGAGTCTTCTGTACCACAA 0.448000 """Mis, N, F, S""" rhabdomyosarcoma Mosaic Variegated Aneuploidy Syndrome 26 27 0 0 1 0 0 KCNJ1 3758 broad.mit.edu 37 11 128709677 128709677 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr11:128709677G>C ENST00000392665.2 - 2 606 c.462C>G c.(460-462)ttC>ttG p.F154L KCNJ1_ENST00000392666.1_Missense_Mutation_p.F154L|KCNJ1_ENST00000324036.3_Missense_Mutation_p.F154L|KCNJ1_ENST00000440599.2_Missense_Mutation_p.F154L|KCNJ1_ENST00000392664.2_Missense_Mutation_p.F173L NM_153764.2 NP_722448.1 P48048 IRK1_HUMAN potassium inwardly-rectifying channel, subfamily J, member 1 173 excretion voltage-gated potassium channel complex ATP binding|inward rectifier potassium channel activity breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1) 23 all_hematologic(175;0.0641) all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942) Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124) CCCCACACATGAAAGAATTGA 0.458000 36 51 0 0 1 0 0 ARL6IP6 151188 broad.mit.edu 37 2 153575496 153575496 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr2:153575496C>G ENST00000326446.5 + 1 1069 c.358C>G c.(358-360)Ctt>Gtt p.L120V NM_152522.5 NP_689735.1 Q8N6S5 AR6P6_HUMAN ADP-ribosylation-like factor 6 interacting protein 6 120 integral to membrane kidney(1)|large_intestine(1)|lung(2)|pancreas(1) 5 CTTCGCCATTCTTCTCGCCTT 0.592000 15 41 0 0 1 0 0 ZNF83 55769 broad.mit.edu 37 19 53116563 53116563 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:53116563G>A ENST00000597597.1 - 2 3508 c.1255C>T c.(1255-1257)Cat>Tat p.H419Y ZNF83_ENST00000544146.1_Missense_Mutation_p.H419Y|ZNF83_ENST00000541777.2_Missense_Mutation_p.H419Y|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000301096.3_Missense_Mutation_p.H419Y|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000536937.1_Missense_Mutation_p.H419Y|ZNF83_ENST00000391789.4_Missense_Mutation_p.H391Y|ZNF83_ENST00000545872.1_Missense_Mutation_p.H419Y|ZNF83_ENST00000601257.1_Intron P51522 ZNF83_HUMAN zinc finger protein 83 419 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) ATTCTCCAATGATATGCAAGG 0.373000 28 100 0 0 1 0 0 PPP1CB 5500 broad.mit.edu 37 2 29001877 29001877 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr2:29001877C>G ENST00000395366.2 + 3 659 c.387C>G c.(385-387)atC>atG p.I129M PPP1CB_ENST00000358506.2_Missense_Mutation_p.I129M|PPP1CB_ENST00000296122.6_Missense_Mutation_p.I129M NM_002709.2 NP_002700.1 P62140 PP1B_HUMAN protein phosphatase 1, catalytic subunit, beta isozyme 129 cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(172;0.155) GTGCTAGCATCAATCGCATTT 0.328000 15 31 0 0 1 0 0 MIDN 90007 broad.mit.edu 37 19 1255046 1255046 + Nonsense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:1255046C>G ENST00000300952.2 + 6 1357 c.842C>G c.(841-843)tCa>tGa p.S281* MIDN_ENST00000591446.2_Nonsense_Mutation_p.S281* NM_177401.4 NP_796375.3 Q504T8 MIDN_HUMAN midnolin 281 nucleolus NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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) GGGGTCTTCTCAGGGACCTTC 0.637000 18 65 0 0 1 0 0 GABRG2 2566 broad.mit.edu 37 5 161528316 161528316 + Silent SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr5:161528316C>T ENST00000356592.3 + 5 1084 c.624C>T c.(622-624)ttC>ttT p.F208F GABRG2_ENST00000361925.4_Silent_p.F208F|GABRG2_ENST00000393933.4_Silent_p.F113F|GABRG2_ENST00000414552.2_Silent_p.F208F NM_000816.3|NM_198904.2 NP_000807.2|NP_944494.1 P18507 GBRG2_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 2 208 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 62 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) CCTTGGAGTTCTCCAGTTGTA 0.363000 10 11 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57550665 57550665 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr12:57550665C>G ENST00000243077.3 + 10 1989 c.1523C>G c.(1522-1524)tCc>tGc p.S508C NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 508 EGF-like 3. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CGCTGCCGTTCCGGCTTCAGC 0.632000 5 13 0 0 1 0 0 NCKAP1 10787 broad.mit.edu 37 2 183800087 183800087 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr2:183800087C>G ENST00000361354.4 - 25 3084 c.2712G>C c.(2710-2712)ttG>ttC p.L904F NCKAP1_ENST00000360982.2_Missense_Mutation_p.L910F|NCKAP1_ENST00000478449.1_5'UTR NM_013436.3 NP_038464.1 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) TCATCCTCTTCAAGACACTGT 0.328000 22 31 0 0 1 0 0 PLEK 5341 broad.mit.edu 37 2 68607462 68607462 + Silent SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr2:68607462G>C ENST00000234313.7 + 2 224 c.45G>C c.(43-45)ggG>ggC p.G15G NM_002664.2 NP_002655.2 P08567 PLEK_HUMAN pleckstrin 15 PH 1. actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 24 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) CATTACAGGGGAGCGTGTTCA 0.398000 9 25 0 0 1 0 0 C3orf20 84077 broad.mit.edu 37 3 14745900 14745900 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr3:14745900G>A ENST00000253697.3 + 7 1387 c.935G>A c.(934-936)cGa>cAa p.R312Q C3orf20_ENST00000435614.1_Missense_Mutation_p.R190Q|C3orf20_ENST00000495387.1_3'UTR|C3orf20_ENST00000412910.1_Missense_Mutation_p.R190Q NM_032137.4 NP_115513.4 Q8ND61 CC020_HUMAN chromosome 3 open reading frame 20 312 cytoplasm|integral to membrane p.R312Q(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40 ATGATCTTACGAAACTACAAG 0.493000 27 76 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180041110 180041110 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr5:180041110C>T ENST00000261937.6 - 24 3367 c.3289G>A c.(3289-3291)Gtg>Atg p.V1097M FLT4_ENST00000393347.3_Missense_Mutation_p.V1097M|FLT4_ENST00000502649.1_Missense_Mutation_p.V1097M NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 1097 Protein kinase. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) AAGGACCACACGTCACTCTGC 0.622000 15 36 0 0 1 0 0 PDIA5 10954 broad.mit.edu 37 3 122849434 122849434 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr3:122849434C>T ENST00000316218.7 + 11 976 c.881C>T c.(880-882)tCc>tTc p.S294F NM_006810.3 NP_006801.1 Q14554 PDIA5_HUMAN protein disulfide isomerase family A, member 5 294 Thioredoxin 2. cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress endoplasmic reticulum lumen electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 21 GBM - Glioblastoma multiforme(114;0.0427) AAGGAACACTCCTCTGTCCTC 0.587000 43 32 0 0 1 0 0 RAI1 10743 broad.mit.edu 37 17 17700785 17700785 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:17700785C>T ENST00000353383.1 + 3 4992 c.4523C>T c.(4522-4524)tCc>tTc p.S1508F RAI1_ENST00000261641.6_Missense_Mutation_p.S1508F NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1508 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) GGCCTGGCCTCCCAGCCCCCG 0.642000 29 6 0 0 1 0 0 STK3 6788 broad.mit.edu 37 8 99468130 99468130 + Silent SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr8:99468130C>T ENST00000523601.1 - 13 1899 c.1500G>A c.(1498-1500)gcG>gcA p.A500A STK3_ENST00000419617.2_Silent_p.A472A NM_001256312.1 NP_001243241.1 Q13188 STK3_HUMAN serine/threonine kinase 3 472 apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis cytoplasm|nucleus ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 17 Breast(36;2.4e-06) Breast(495;0.106) OV - Ovarian serous cystadenocarcinoma(57;0.0382) KIRC - Kidney renal clear cell carcinoma(542;9.44e-06) GCTGTCTTTTCGCAGTGTATC 0.408000 9 11 0 0 1 0 0 KCND1 3750 broad.mit.edu 37 X 48825780 48825780 + Missense_Mutation SNP A A G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chrX:48825780A>G ENST00000218176.3 - 1 2196 c.899T>C c.(898-900)tTt>tCt p.F300S NM_004979.4 NP_004970.3 Q9NSA2 KCND1_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 1 300 voltage-gated potassium channel complex metal ion binding|voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 24 GAAGATGCGAAACACCCGGAA 0.552000 10 15 0 0 1 0 0 ZNF777 27153 broad.mit.edu 37 7 149152911 149152911 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr7:149152911G>A ENST00000247930.4 - 2 526 c.203C>T c.(202-204)tCt>tTt p.S68F NM_015694.2 NP_056509.2 Q9ULD5 ZN777_HUMAN zinc finger protein 777 68 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) CATCCGGCCAGAAGTCTCTTG 0.577000 28 64 0 0 1 0 0 TMEM165 55858 broad.mit.edu 37 4 56284049 56284049 + Nonsense_Mutation SNP T T A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr4:56284049T>A ENST00000381334.5 + 4 922 c.689T>A c.(688-690)tTg>tAg p.L230* TMEM165_ENST00000514904.1_3'UTR|TMEM165_ENST00000542052.1_Nonsense_Mutation_p.L167*|TMEM165_ENST00000506198.1_Intron NM_018475.4 NP_060945.2 Q9HC07 TM165_HUMAN transmembrane protein 165 230 integral to membrane endometrium(1)|kidney(1)|large_intestine(2) 4 Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103) AAAAAGTGGTTGCATTTTATT 0.353000 3 27 0 0 1 0 0 GOLGB1 2804 broad.mit.edu 37 3 121396236 121396236 + Missense_Mutation SNP T T C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr3:121396236T>C ENST00000393667.3 - 16 9045 c.8935A>G c.(8935-8937)Atc>Gtc p.I2979V GOLGB1_ENST00000340645.5_Missense_Mutation_p.I2974V NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 2974 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) TTATCTGAGATAGCCATAAGG 0.408000 14 61 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 102516372 102516372 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr6:102516372G>C ENST00000421544.1 + 16 3203 c.2713G>C c.(2713-2715)Gaa>Caa p.E905Q GRIK2_ENST00000369134.4_Missense_Mutation_p.E856Q|GRIK2_ENST00000369137.3_Missense_Mutation_p.E829Q|GRIK2_ENST00000413795.1_3'UTR|GRIK2_ENST00000369138.1_3'UTR NM_021956.4 NP_068775.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 905 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) GCCAGGTAAAGAAACCATGGC 0.433000 9 25 0 0 1 0 0 SYTL2 54843 broad.mit.edu 37 11 85445395 85445395 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr11:85445395G>C ENST00000316356.4 - 7 1541 c.977C>G c.(976-978)tCc>tGc p.S326C SYTL2_ENST00000528231.1_Missense_Mutation_p.S325C|SYTL2_ENST00000389960.4_Missense_Mutation_p.S325C|SYTL2_ENST00000527523.1_Missense_Mutation_p.S277C|SYTL2_ENST00000524452.1_Missense_Mutation_p.S325C Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 325 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding p.S326F(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) TGGCTCCAGGGAGTTTGGGGA 0.448000 32 74 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38941567 38941567 + Missense_Mutation SNP G G A rs144808884 byFrequency TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr6:38941567G>A ENST00000359357.3 + 82 12259 c.12005G>A c.(12004-12006)cGa>cAa p.R4002Q DNAH8_ENST00000441566.1_Missense_Mutation_p.R3966Q dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 CCCCATGATCGATTTCCAATT 0.393000 12 24 0 0 1 0 0 NOG 9241 broad.mit.edu 37 17 54671875 54671875 + Silent SNP C C A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:54671875C>A ENST00000332822.4 + 1 816 c.291C>A c.(289-291)ggC>ggA p.G97G NM_005450.4 NP_005441.1 Q13253 NOGG_HUMAN noggin 97 BMP signaling pathway|cartilage development|cell differentiation in hindbrain|dorsal/ventral pattern formation|embryonic digit morphogenesis|embryonic skeletal joint morphogenesis|epithelial to mesenchymal transition|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation|middle ear morphogenesis|negative regulation of astrocyte differentiation|negative regulation of BMP signaling pathway|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of cytokine activity|negative regulation of osteoblast differentiation|osteoblast differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of glomerulus development|somatic stem cell maintenance|wound healing extracellular space cytokine binding|protein homodimerization activity ovary(1) 1 Breast(9;5.24e-08) CAGCTGGGGGCGCGGAGGACC 0.751000 9 7 0.000274275 0.000282873 1 1 0 TRIM71 131405 broad.mit.edu 37 3 32933231 32933231 + Silent SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr3:32933231C>T ENST00000383763.5 + 4 2598 c.2535C>T c.(2533-2535)tcC>tcT p.S845S NM_001039111.1 NP_001034200.1 Q2Q1W2 LIN41_HUMAN tripartite motif containing 71, E3 ubiquitin protein ligase multicellular organismal development cytoplasm zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 ACCGCCCTTCCGGCATCGCCA 0.527000 29 121 0 0 1 0 0 FAM92A1P2 403315 broad.mit.edu 37 4 183960063 183960063 + RNA SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr4:183960063G>A ENST00000502308.1 + 0 1246 NR_003612.1 TGATAAGCATGAAGATTTAGA 0.333000 4 13 0 0 1 0 0 NUP188 23511 broad.mit.edu 37 9 131768567 131768567 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr9:131768567C>G ENST00000372577.2 + 43 5014 c.4993C>G c.(4993-4995)Cag>Gag p.Q1665E NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 1665 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 GCTCATCTCTCAGGCGATGCG 0.572000 OREG0019528 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 35 81 0 0 1 0 0 OCM2 4951 broad.mit.edu 37 7 97619396 97619396 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr7:97619396G>A ENST00000257627.4 - 1 112 c.21C>T c.(19-21)ctC>ctT p.L7L OCM2_ENST00000473987.2_5'UTR NM_006188.3 NP_006179.2 P0CE71 OCM2_HUMAN oncomodulin 2 7 calcium ion binding lung(4) 4 CATCAGCACTGAGCACGTCCG 0.552000 8 23 0 0 1 0 0 OTOF 9381 broad.mit.edu 37 2 26739408 26739408 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr2:26739408G>A ENST00000272371.2 - 5 513 c.387C>T c.(385-387)gaC>gaT p.D129D OTOF_ENST00000403946.3_Silent_p.D129D NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 129 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGTCCCCATCGTCCCAGGAGC 0.647000 4 50 0 0 1 0 0 FBXL2 25827 broad.mit.edu 37 3 33416785 33416785 + Silent SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr3:33416785C>T ENST00000484457.1 + 10 754 c.663C>T c.(661-663)atC>atT p.I221I FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000538892.1_Silent_p.I153I|FBXL2_ENST00000538181.1_Silent_p.I137I|FBXL2_ENST00000507198.1_Silent_p.I153I|FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000283627.6_3'UTR NM_012157.3 NP_036289.3 Q9UKC9 FBXL2_HUMAN F-box and leucine-rich repeat protein 2 221 interspecies interaction between organisms|proteolysis cytoplasm|membrane protein binding|ubiquitin-protein ligase activity endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1) 15 CTCAGCGTATCACGGATGAAG 0.512000 48 35 0 0 1 0 0 NPIPA5 100288332 broad.mit.edu 37 16 15457701 15457701 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr16:15457701G>A ENST00000360151.4 - 8 867 c.868C>T c.(868-870)Ctc>Ttc p.L290F NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 p.L290F(2) AGGGGAGTGAGCAGACACTCG 0.562000 4 75 0 0 1 0 0 KCNK10 54207 broad.mit.edu 37 14 88693731 88693731 + Silent SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr14:88693731C>T ENST00000340700.5 - 4 1105 c.654G>A c.(652-654)gaG>gaA p.E218E KCNK10_ENST00000319231.5_Silent_p.E223E|KCNK10_ENST00000312350.5_Silent_p.E223E NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 218 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 GAAAGACCTTCTCCACTCTTG 0.428000 21 37 0 0 1 0 0 CSRP3 8048 broad.mit.edu 37 11 19209781 19209781 + Silent SNP G G A rs34075817 TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr11:19209781G>A ENST00000533783.1 - 4 423 c.183C>T c.(181-183)tgC>tgT p.C61C CSRP3_ENST00000265968.3_Silent_p.C61C NM_003476.4 NP_003467.1 P50461 CSRP3_HUMAN cysteine and glycine-rich protein 3 (cardiac LIM protein) 61 LIM zinc-binding 1. cell differentiation|skeletal muscle tissue development cytoskeleton|nucleus protein binding|zinc ion binding kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2) 10 TGCGCCCATAGCACACCTTGC 0.587000 25 48 0 0 1 0 0 SLC39A5 283375 broad.mit.edu 37 12 56629471 56629471 + Missense_Mutation SNP G G C rs145666015 TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr12:56629471G>C ENST00000266980.4 + 6 1225 c.932G>C c.(931-933)cGa>cCa p.R311P SLC39A5_ENST00000454355.2_Missense_Mutation_p.R311P NM_001135195.1 NP_001128667.1 Q6ZMH5 S39A5_HUMAN solute carrier family 39 (zinc transporter), member 5 311 zinc ion transport basolateral plasma membrane|integral to membrane metal ion transmembrane transporter activity NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TTGCGGCACCGAGGGCTCAGG 0.637000 41 86 0 0 1 0 0 FUZ 80199 broad.mit.edu 37 19 50310577 50310577 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:50310577C>G ENST00000313777.4 - 11 1251 c.1088G>C c.(1087-1089)aGa>aCa p.R363T FUZ_ENST00000533418.1_Missense_Mutation_p.R313T|FUZ_ENST00000445575.2_Missense_Mutation_p.R363T|FUZ_ENST00000528094.1_Missense_Mutation_p.R327T NM_025129.4 NP_079405.2 Q9BT04 FUZZY_HUMAN fuzzy planar cell polarity protein 363 Leu-rich. cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway cytoplasm|cytoskeleton endometrium(1)|lung(3) 4 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116) GTAGCAAGCTCTGGGCAGCTG 0.607000 5 25 0 0 1 0 0 RAB3GAP1 22930 broad.mit.edu 37 2 135911282 135911282 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr2:135911282G>A ENST00000264158.8 + 19 2168 c.2125G>A c.(2125-2127)Gaa>Aaa p.E709K ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.E709K|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.E665K|RAB3GAP1_ENST00000487003.1_3'UTR NM_012233.2 NP_036365.1 Q15042 RB3GP_HUMAN RAB3 GTPase activating protein subunit 1 (catalytic) 709 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(221;0.117) GGATTATATTGAAGAGGAGGT 0.438000 22 48 0 0 1 0 0 POLR2E 5434 broad.mit.edu 37 19 1089934 1089934 + Missense_Mutation SNP C C A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:1089934C>A ENST00000215587.7 - 6 799 c.516G>T c.(514-516)agG>agT p.R172S POLR2E_ENST00000586746.1_Missense_Mutation_p.R172S|POLR2E_ENST00000585838.1_5'UTR P19388 RPAB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide E, 25kDa 172 interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III 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 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2) 11 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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) CCGCCTGGATCCTGGGCAGCT 0.667000 6 21 0.217242 0.217905 1 1 0 RGL1 23179 broad.mit.edu 37 1 183895257 183895257 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:183895257C>T ENST00000304685.4 + 19 2692 c.2243C>T c.(2242-2244)tCa>tTa p.S748L RGL1_ENST00000360851.3_Missense_Mutation_p.S713L|RGL1_ENST00000536277.1_Missense_Mutation_p.S711L|RGL1_ENST00000539189.1_Missense_Mutation_p.S684L NM_015149.3 NP_055964.3 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation stimulator-like 1 cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 ATTCCAGACTCAGCAAATGTC 0.443000 14 47 0 0 1 0 0 ATP2A3 489 broad.mit.edu 37 17 3854917 3854917 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:3854917G>A ENST00000309890.7 - 4 432 c.282C>T c.(280-282)atC>atT p.I94I ATP2A3_ENST00000397035.3_Silent_p.I94I|ATP2A3_ENST00000397043.3_Silent_p.I94I|ATP2A3_ENST00000397041.3_Silent_p.I94I|ATP2A3_ENST00000352011.3_Silent_p.I94I|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000359983.3_Silent_p.I94I NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2 NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1 Q93084 AT2A3_HUMAN ATPase, Ca++ transporting, ubiquitous 94 ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 36 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) GGATCAGCATGATGACCAGGG 0.687000 9 4 0 0 1 0 0 NCOR2 9612 broad.mit.edu 37 12 124821437 124821437 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr12:124821437G>A ENST00000356219.3 - 39 6153 c.5998C>T c.(5998-6000)Cgc>Tgc p.R2000C NCOR2_ENST00000397355.1_Missense_Mutation_p.R1984C|NCOR2_ENST00000404621.1_Missense_Mutation_p.R1983C|NCOR2_ENST00000405201.1_Missense_Mutation_p.R1993C|NCOR2_ENST00000429285.2_Missense_Mutation_p.R1983C|NCOR2_ENST00000404121.2_Missense_Mutation_p.R1554C NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 2004 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GCAGGGGTGCGGGCGATGGTG 0.731000 8 13 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34078093 34078093 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr15:34078093G>A ENST00000389232.4 + 66 9569 c.9499G>A c.(9499-9501)Gaa>Aaa p.E3167K RYR3_ENST00000415757.3_Missense_Mutation_p.E3167K NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3167 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GGTCACCTCTGAACACCTCAG 0.562000 57 88 0 0 1 0 0 HIST1H1C 3006 broad.mit.edu 37 6 26056108 26056108 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr6:26056108C>G ENST00000343677.2 - 1 591 c.549G>C c.(547-549)aaG>aaC p.K183N NM_005319.3 NP_005310.1 P16403 H12_HUMAN histone cluster 1, H1c 183 nucleosome assembly nucleosome|nucleus DNA binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 34 TGGCAGCTTTCTTGGGCTTCG 0.552000 30 52 0 0 1 0 0 TMEM234 56063 broad.mit.edu 37 1 32687561 32687561 + Silent SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:32687561C>T ENST00000373593.1 - 2 95 c.75G>A c.(73-75)ctG>ctA p.L25L TMEM234_ENST00000545122.1_Silent_p.L25L|TMEM234_ENST00000309777.6_Silent_p.L25L|TMEM234_ENST00000344461.3_Silent_p.L25L Q8WY98 TM234_HUMAN transmembrane protein 234 25 integral to membrane kidney(2)|lung(3) 5 AGGCCCGCTTCAGCAGCGGCT 0.642000 11 25 0 0 1 0 0 BMS1 9790 broad.mit.edu 37 10 43292616 43292616 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr10:43292616G>C ENST00000374518.5 + 10 1987 c.1924G>C c.(1924-1926)Gaa>Caa p.E642Q NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 CAGTGATATAGAAAATTTACT 0.373000 13 38 0 0 1 0 0 SIGLEC8 27181 broad.mit.edu 37 19 51957546 51957546 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:51957546G>A ENST00000321424.3 - 6 1238 c.1172C>T c.(1171-1173)tCg>tTg p.S391L SIGLEC8_ENST00000340550.5_Missense_Mutation_p.S298L|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.S282L NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 391 cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TGGCCTTGCCGATTTCTTCCT 0.597000 19 68 0 0 1 0 0 ZNF425 155054 broad.mit.edu 37 7 148801438 148801438 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr7:148801438G>C ENST00000378061.2 - 4 1657 c.1525C>G c.(1525-1527)Cag>Gag p.Q509E NM_001001661.2 NP_001001661.1 Q6IV72 ZN425_HUMAN zinc finger protein 425 509 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) CGCGACTGCTGAGAAAAGGTC 0.637000 8 12 0 0 1 0 0 ZNF706 51123 broad.mit.edu 37 8 102213962 102213962 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr8:102213962C>G ENST00000520347.1 - 2 2964 c.8G>C c.(7-9)cGt>cCt p.R3P ZNF706_ENST00000521272.1_Missense_Mutation_p.R3P|ZNF706_ENST00000519744.1_Missense_Mutation_p.R3P|ZNF706_ENST00000311212.4_Missense_Mutation_p.R3P|ZNF706_ENST00000519882.1_Missense_Mutation_p.R3P|ZNF706_ENST00000520984.1_Missense_Mutation_p.R3P|ZNF706_ENST00000517844.1_Missense_Mutation_p.R3P|ZNF706_ENST00000518336.1_Missense_Mutation_p.R3P Q9Y5V0 ZN706_HUMAN zinc finger protein 706 3 intracellular zinc ion binding p.R3P(2) large_intestine(1)|ovary(2) 3 all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117) Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05) CTGCTGTCCACGAGCCATATC 0.398000 8 19 0 0 1 0 0 FBXO10 26267 broad.mit.edu 37 9 37537289 37537289 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr9:37537289C>G ENST00000432825.2 - 3 1285 c.1237G>C c.(1237-1239)Gag>Cag p.E413Q RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Intron NM_012166.2 NP_036298.2 Q9UK96 FBX10_HUMAN F-box protein 10 413 ubiquitin ligase complex ubiquitin-protein ligase activity breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 34 GBM - Glioblastoma multiforme(29;0.0107) TTCTGCAGCTCCTGCTGCAGT 0.627000 10 1 0 0 1 0 0 GBP1 2633 broad.mit.edu 37 1 89528910 89528910 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:89528910G>A ENST00000370473.4 - 2 227 c.8C>T c.(7-9)tCa>tTa p.S3L NM_002053.2 NP_002044.2 P32455 GBP1_HUMAN guanylate binding protein 1, interferon-inducible 3 interferon-gamma-mediated signaling pathway plasma membrane GTP binding|GTPase activity endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 30 Lung NSC(277;0.123) all cancers(265;0.0156)|Epithelial(280;0.0291) GTGGATCTCTGATGCCATGTC 0.453000 28 60 0 0 1 0 0 TSLP 85480 broad.mit.edu 37 5 110407681 110407681 + Silent SNP C C T rs148498768 byFrequency TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr5:110407681C>T ENST00000420978.2 + 2 1515 c.93C>T c.(91-93)ttC>ttT p.F31F TSLP_ENST00000344895.3_Silent_p.F31F Q969D9 TSLP_HUMAN thymic stromal lymphopoietin 31 extracellular space cytokine activity breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1) 11 all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109) CTTACGACTTCACTAACTGTG 0.368000 40 44 0 0 1 0 0 ARL3 403 broad.mit.edu 37 10 104459170 104459170 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr10:104459170C>G ENST00000260746.5 - 3 355 c.224G>C c.(223-225)aGa>aCa p.R75T NM_004311.3 NP_004302.1 P36405 ARL3_HUMAN ADP-ribosylation factor-like 3 75 cell cycle|cytokinesis|small GTPase mediated signal transduction centrosome|cytoplasmic microtubule|Golgi membrane|midbody|nucleus|photoreceptor connecting cilium|spindle microtubule GDP binding|GTP binding|metal ion binding|microtubule binding large_intestine(2) 2 Colorectal(252;0.122) Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22) CCAGTATGGTCTGATTTTCCT 0.358000 6 8 0 0 1 0 0 PURB 5814 broad.mit.edu 37 7 44924074 44924074 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr7:44924074C>T ENST00000395699.2 - 1 886 c.874G>A c.(874-876)Gag>Aag p.E292K NM_033224.3 NP_150093.1 Q96QR8 PURB_HUMAN purine-rich element binding protein B 292 regulation of myeloid cell differentiation DNA replication factor A complex mRNA binding|single-stranded DNA binding|transcription factor binding large_intestine(2)|lung(3)|prostate(1)|skin(1) 7 CCACGTCGCTCATAAAGCTTA 0.592000 25 62 0 0 1 0 0 HECTD1 25831 broad.mit.edu 37 14 31613367 31613367 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr14:31613367C>G ENST00000399332.1 - 17 3216 c.2728G>C c.(2728-2730)Gaa>Caa p.E910Q HECTD1_ENST00000553700.1_Missense_Mutation_p.E910Q NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 910 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity 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) CTACACATTTCATATGGTGAA 0.303000 8 16 0 0 1 0 0 NEGR1 257194 broad.mit.edu 37 1 72400821 72400821 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:72400821G>A ENST00000357731.5 - 2 589 c.350C>T c.(349-351)aCg>aTg p.T117M NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000306821.3_De_novo_Start_InFrame|NEGR1_ENST00000434200.1_Missense_Mutation_p.T115M NM_173808.2 NP_776169.2 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 Ig-like C2-type 1. cell adhesion anchored to membrane|plasma membrane p.T117M(1) endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) AACAGAACACGTGTATGGGCC 0.418000 16 26 0 0 1 0 0 SLC8A2 6543 broad.mit.edu 37 19 47969393 47969393 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:47969393C>T ENST00000236877.6 - 2 663 c.268G>A c.(268-270)Gcc>Acc p.A90T SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_Intron NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 90 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) AAACGGTCGGCGATGATGGAC 0.597000 20 41 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78318559 78318559 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:78318559G>A ENST00000582970.1 + 29 6567 c.6424G>A c.(6424-6426)Gag>Aag p.E2142K RNF213_ENST00000336301.6_Missense_Mutation_p.E215K|RNF213_ENST00000508628.2_Missense_Mutation_p.E2191K NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 p.E2191Q(1)|p.E215Q(1) NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GATAGACATGGAGCTGAGTGC 0.488000 81 125 0 0 1 0 0 ZBTB45 84878 broad.mit.edu 37 19 59028629 59028629 + Missense_Mutation SNP T T G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:59028629T>G ENST00000594051.1 - 2 892 c.412A>C c.(412-414)Acc>Ccc p.T138P ZBTB45_ENST00000600990.1_Missense_Mutation_p.T138P|ZBTB45_ENST00000354590.3_Missense_Mutation_p.T138P Q96K62 ZBT45_HUMAN zinc finger and BTB domain containing 45 138 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|lung(5)|urinary_tract(1) 11 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18) GGCACAGGGGTGGGCAGGGGC 0.716000 OREG0025700 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 3 0 0 1 0 0 ZMYM5 9205 broad.mit.edu 37 13 20411884 20411884 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr13:20411884G>A ENST00000337963.4 - 6 1214 c.950C>T c.(949-951)tCt>tTt p.S317F ZMYM5_ENST00000382907.4_3'UTR|ZMYM5_ENST00000382905.4_Missense_Mutation_p.S317F NM_001142684.1 NP_001136156.1 Q9UJ78 ZMYM5_HUMAN zinc finger, MYM-type 5 317 nucleus zinc ion binding kidney(1)|large_intestine(5)|lung(9) 15 all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431) AGACAAACAAGATGTACTATA 0.338000 10 48 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233363102 233363102 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:233363102G>C ENST00000258229.9 - 10 2608 c.2374C>G c.(2374-2376)Ctg>Gtg p.L792V PCNXL2_ENST00000430153.1_Missense_Mutation_p.L91V NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) GAGGCTTCCAGATCCTGACTC 0.358000 15 20 0 0 1 0 0 MTUS1 57509 broad.mit.edu 37 8 17507472 17507472 + Splice_Site SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr8:17507472C>T ENST00000381869.3 - 12 3696 c.e12-1 MTUS1_ENST00000297488.6_Splice_Site|MTUS1_ENST00000381861.3_Splice_Site|MTUS1_ENST00000544260.1_Splice_Site|MTUS1_ENST00000519263.1_Splice_Site|MTUS1_ENST00000400046.1_Splice_Site|MTUS1_ENST00000518713.1_Splice_Site|MTUS1_ENST00000262102.6_Splice_Site NM_001001925.2 NP_001001925.1 Q9ULD2 MTUS1_HUMAN microtubule associated tumor suppressor 1 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 36 Colorectal(111;0.0778) GAGGATTTTTCTGGAAAGGAC 0.368000 33 15 0 0 1 0 0 AKAP11 11215 broad.mit.edu 37 13 42874879 42874879 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr13:42874879C>T ENST00000025301.2 + 8 2172 c.1997C>T c.(1996-1998)tCa>tTa p.S666L NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 666 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) TGTCAGTTTTCATATCCTCAA 0.403000 29 78 0 0 1 0 0 SRR 63826 broad.mit.edu 37 17 2222158 2222158 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:2222158G>C ENST00000344595.5 + 4 652 c.334G>C c.(334-336)Gac>Cac p.D112H SRR_ENST00000576848.1_Intron NM_021947.1 NP_068766.1 Q9GZT4 SRR_HUMAN serine racemase 112 D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide cytoplasm|neuronal cell body|soluble fraction ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649) L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) GACAGCTCCAGACTGTAAAAA 0.448000 79 33 0 0 1 0 0 TTC3 7267 broad.mit.edu 37 21 38510991 38510991 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr21:38510991C>G ENST00000399017.2 + 19 4383 c.1636C>G c.(1636-1638)Ctc>Gtc p.L546V TTC3_ENST00000540756.1_Missense_Mutation_p.L236V|TTC3_ENST00000355666.1_Missense_Mutation_p.L546V|TTC3_ENST00000354749.2_Missense_Mutation_p.L546V|TTC3_ENST00000479930.1_3'UTR NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 546 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) TGCCATTTCTCTCCTTGGAAT 0.308000 31 64 0 0 1 0 0 TRIM32 22954 broad.mit.edu 37 9 119461874 119461874 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr9:119461874G>A ENST00000450136.1 + 2 2014 c.1853G>A c.(1852-1854)tGt>tAt p.C618Y ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361209.2_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.C618Y|ASTN2_ENST00000361477.3_Intron NM_001099679.1|NM_012210.3 NP_001093149.1|NP_036342.2 Q13049 TRI32_HUMAN tripartite motif containing 32 618 fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV nucleus myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 26 GGACTTACCTGTCCGGTGGGC 0.507000 18 38 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49434621 49434621 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr12:49434621G>A ENST00000301067.7 - 31 6931 c.6932C>T c.(6931-6933)tCc>tTc p.S2311F NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GGTGCCTGAGGAGGGTGAGTC 0.612000 16 23 0 0 1 0 0 DNAL4 10126 broad.mit.edu 37 22 39178724 39178724 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr22:39178724C>G ENST00000216068.4 - 2 257 c.13G>C c.(13-15)Gaa>Caa p.E5Q SUN2_ENST00000406622.1_Intron|DNAL4_ENST00000406199.3_Missense_Mutation_p.E5Q|DNAL4_ENST00000486019.1_Intron NM_005740.2 NP_005731.1 O96015 DNAL4_HUMAN dynein, axonemal, light chain 4 5 microtubule-based movement|nerve growth factor receptor signaling pathway axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|plasma membrane ATPase activity, coupled|microtubule motor activity lung(1)|skin(1) 2 Melanoma(58;0.04) TTCTTCCCTTCTGTTTCTCCC 0.572000 10 30 0 0 1 0 0 SLC14A1 6563 broad.mit.edu 37 18 43328388 43328388 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr18:43328388G>C ENST00000321925.4 + 9 1226 c.994G>C c.(994-996)Gag>Cag p.E332Q SLC14A1_ENST00000436407.3_Missense_Mutation_p.E388Q|SLC14A1_ENST00000402943.2_Missense_Mutation_p.E227Q|SLC14A1_ENST00000589700.1_Silent_p.L282L|SLC14A1_ENST00000591541.1_Missense_Mutation_p.E36Q|SLC14A1_ENST00000502059.2_Missense_Mutation_p.E224Q|SLC14A1_ENST00000415427.3_Missense_Mutation_p.E388Q|SLC14A1_ENST00000535474.1_Missense_Mutation_p.E200Q|SLC14A1_ENST00000586142.1_Missense_Mutation_p.E332Q NM_001128588.3|NM_001146036.2|NM_015865.6 NP_001122060.3|NP_001139508.2|NP_056949.4 Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), member 1 332 integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 21 CTTTATGGCTGAGGTGAGTTT 0.448000 24 52 0 0 1 0 0 EFEMP1 2202 broad.mit.edu 37 2 56144869 56144869 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr2:56144869G>A ENST00000394555.2 - 4 883 c.448C>T c.(448-450)Ccc>Tcc p.P150S EFEMP1_ENST00000394554.1_Missense_Mutation_p.P150S|EFEMP1_ENST00000424836.2_Missense_Mutation_p.P92S|EFEMP1_ENST00000355426.3_Missense_Mutation_p.P150S NM_001039348.2|NM_001039349.2 NP_001034437.1|NP_001034438.1 Q12805 FBLN3_HUMAN EGF containing fibulin-like extracellular matrix protein 1 150 negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception extracellular space|proteinaceous extracellular matrix calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GGGTTGGAGGGAATGCGCTGA 0.527000 47 55 0 0 1 0 0 TMEM120A 83862 broad.mit.edu 37 7 75617241 75617241 + RNA SNP T T G rs35558484 TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr7:75617241T>G ENST00000338761.4 - 0 779 TMEM120A_ENST00000493111.2_RNA Q9BXJ8 T120A_HUMAN transmembrane protein 120A integral to membrane GGACACTCACTCTGGTACATG 0.612000 5 5 0 0 1 0 0 STARD4 134429 broad.mit.edu 37 5 110835670 110835670 + Missense_Mutation SNP G G T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr5:110835670G>T ENST00000296632.3 - 6 666 c.532C>A c.(532-534)Cgt>Agt p.R178S STARD4_ENST00000512160.1_3'UTR NM_139164.1 NP_631903.1 Q96DR4 STAR4_HUMAN StAR-related lipid transfer (START) domain containing 4 178 START. lipid transport lipid binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1) 12 all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248) OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138) ATCATCCCACGCAGATCTGTC 0.413000 26 43 7.92952e-12 8.52553e-12 1 1 0 MFSD11 79157 broad.mit.edu 37 17 74737112 74737112 + Nonsense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:74737112C>T ENST00000588460.1 + 3 2268 c.226C>T c.(226-228)Caa>Taa p.Q76* MFSD11_ENST00000593181.1_Nonsense_Mutation_p.Q76*|MFSD11_ENST00000586622.1_Nonsense_Mutation_p.Q76*|MFSD11_ENST00000336509.4_Nonsense_Mutation_p.Q76*|MFSD11_ENST00000590514.1_Nonsense_Mutation_p.Q76*|MFSD11_ENST00000355954.3_Nonsense_Mutation_p.Q76* NM_001242534.1 NP_001229463.1 O43934 MFS11_HUMAN major facilitator superfamily domain containing 11 76 integral to membrane endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1) 17 TGTAGGACCTCAACTCTCTAT 0.373000 58 96 0 0 1 0 0 TP73 7161 broad.mit.edu 37 1 3649318 3649318 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:3649318G>C ENST00000378295.4 + 14 1741 c.1586G>C c.(1585-1587)gGg>gCg p.G529A TP73_ENST00000346387.4_Missense_Mutation_p.G433A|TP73_ENST00000378290.4_Missense_Mutation_p.G458A|TP73_ENST00000604074.1_Missense_Mutation_p.G402R|TP73_ENST00000604479.1_Missense_Mutation_p.G433A|TP73_ENST00000357733.3_Missense_Mutation_p.G448A|TP73_ENST00000378285.1_Missense_Mutation_p.G449R|TP73_ENST00000378280.1_3'UTR|TP73_ENST00000603362.1_Missense_Mutation_p.G448A|TP73_ENST00000354437.4_Missense_Mutation_p.G498R|TP73_ENST00000378288.4_Missense_Mutation_p.G480A NM_001204185.1|NM_005427.3 NP_001191114.1|NP_005418.1 O15350 P73_HUMAN tumor protein p73 529 SAM. cellular response to UV|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|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray chromatin|cytosol|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1) 20 all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198) all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127) Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226) CAGGACCTGGGGGCCCTGAAG 0.706000 3 20 0 0 1 0 0 NTRK2 4915 broad.mit.edu 37 9 87482169 87482169 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr9:87482169G>A ENST00000304053.6 + 14 1939 c.1456G>A c.(1456-1458)Gtt>Att p.V486I NTRK2_ENST00000277120.3_Missense_Mutation_p.V486I|NTRK2_ENST00000323115.4_Missense_Mutation_p.V470I|NTRK2_ENST00000376214.1_Missense_Mutation_p.V486I|NTRK2_ENST00000376208.1_Missense_Mutation_p.V470I|NTRK2_ENST00000376213.1_Missense_Mutation_p.V470I NM_001018065.2 NP_001018075.1 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 470 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 46 CCCAGCCTCCGTTATCAGCAA 0.413000 TSP Lung(25;0.17) 24 43 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89392692 89392692 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr15:89392692C>T ENST00000439576.2 + 10 2130 c.1756C>T c.(1756-1758)Ctt>Ttt p.L586F ACAN_ENST00000559004.1_Missense_Mutation_p.L586F|ACAN_ENST00000561243.1_Missense_Mutation_p.L586F|ACAN_ENST00000558207.1_Missense_Mutation_p.L586F|ACAN_ENST00000352105.7_Missense_Mutation_p.L586F NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 586 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CGCCACACGCCTTGAGCAGTT 0.632000 6 8 0 0 1 0 0 ZNF680 340252 broad.mit.edu 37 7 63982867 63982867 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr7:63982867G>C ENST00000309683.6 - 4 416 c.265C>G c.(265-267)Cat>Gat p.H89D ZNF680_ENST00000476563.1_5'UTR NM_178558.4 NP_848653.2 Q8NEM1 ZN680_HUMAN zinc finger protein 680 89 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 27 Lung NSC(55;0.118)|all_lung(88;0.243) TCAGTGAAATGAGAATATATA 0.289000 9 14 0 0 1 0 0 TRIM31 11074 broad.mit.edu 37 6 30080495 30080495 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr6:30080495C>T ENST00000376734.3 - 2 213 c.88G>A c.(88-90)Gac>Aac p.D30N TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000540829.1_Missense_Mutation_p.D30N NM_007028.3 NP_008959.3 Q9BZY9 TRI31_HUMAN tripartite motif containing 31 30 mitochondrion ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2) 15 TGCCCACAGTCGATGGTGACA 0.473000 27 57 0 0 1 0 0 UNC5A 90249 broad.mit.edu 37 5 176306326 176306326 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr5:176306326G>C ENST00000329542.4 + 14 2474 c.2200G>C c.(2200-2202)Gag>Cag p.E734Q UNC5A_ENST00000261961.3_Missense_Mutation_p.E694Q NM_133369.2 NP_588610.2 Q6ZN44 UNC5A_HUMAN unc-5 homolog A (C. elegans) 734 apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AAGGTTTGCTGAGCTGCTGGC 0.617000 25 60 0 0 1 0 0 SPIRE2 84501 broad.mit.edu 37 16 89929916 89929916 + Silent SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr16:89929916G>C ENST00000378247.3 + 11 1651 c.1608G>C c.(1606-1608)ctG>ctC p.L536L SPIRE2_ENST00000393062.2_Silent_p.L536L NM_032451.1 NP_115827.1 Q8WWL2 SPIR2_HUMAN spire-type actin nucleation factor 2 536 Spir-box. transport cytoplasm|cytoskeleton actin binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0286) GCCTGGCGCTGACTGTGGAAG 0.572000 11 24 0 0 1 0 0 SMG8 55181 broad.mit.edu 37 17 57288781 57288781 + Missense_Mutation SNP G G C rs5821255 TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:57288781G>C ENST00000543872.2 + 2 1633 c.1369G>C c.(1369-1371)Gag>Cag p.E457Q CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000578922.1_Missense_Mutation_p.E457Q|SMG8_ENST00000580498.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.E457Q Q8ND04 SMG8_HUMAN SMG8 nonsense mediated mRNA decay factor 457 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 33 AAAACTGTATGAGGTGGCTAT 0.438000 44 64 0 0 1 0 0 ERBB2 2064 broad.mit.edu 37 17 37880220 37880220 + Missense_Mutation SNP T T C rs121913470 TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:37880220T>C ENST00000406381.2 + 21 2684 c.2174T>C c.(2173-2175)tTg>tCg p.L725S ERBB2_ENST00000541774.1_Missense_Mutation_p.L740S|ERBB2_ENST00000584450.1_Missense_Mutation_p.L755S|ERBB2_ENST00000445658.2_Missense_Mutation_p.L479S|ERBB2_ENST00000584601.1_Missense_Mutation_p.L725S|ERBB2_ENST00000269571.5_Missense_Mutation_p.L755S|ERBB2_ENST00000540147.1_Missense_Mutation_p.L725S NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 755 Protein kinase. cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.L755S(10)|p.L755P(2)|p.L755_S760>A(1) NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) ATCAAAGTGTTGAGGGAAAAC 0.532000 L755S(LN229_CENTRAL_NERVOUS_SYSTEM) 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 16 22 0 0 1 0 0 AXDND1 126859 broad.mit.edu 37 1 179399689 179399689 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:179399689G>C ENST00000367618.3 + 14 1822 c.1435G>C c.(1435-1437)Gag>Cag p.E479Q AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.E479Q NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 479 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 GTCTACAAGCGAGACACTGAA 0.368000 18 47 0 0 1 0 0 CYP2B7P 1556 broad.mit.edu 37 19 41442088 41442088 + RNA SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:41442088G>C ENST00000599198.1 + 0 312 NR_001278.1 NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1) 12 CCATACGGGAGGCCCTGGTGG 0.582000 15 43 0 0 1 0 0 ACTRT2 140625 broad.mit.edu 37 1 2938728 2938728 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:2938728G>A ENST00000378404.2 + 1 683 c.478G>A c.(478-480)Ggg>Agg p.G160R NM_080431.4 NP_536356.3 Q8TDY3 ACTT2_HUMAN actin-related protein T2 160 cytoplasm|cytoskeleton p.G160W(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) GGTGGACAGCGGGGATGCGGT 0.642000 4 46 0 0 1 0 0 TRMT2A 27037 broad.mit.edu 37 22 20100722 20100722 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr22:20100722C>T ENST00000252136.7 - 10 1856 c.1468G>A c.(1468-1470)Gag>Aag p.E490K TRMT2A_ENST00000404751.3_Missense_Mutation_p.E490K|TRMT2A_ENST00000439169.2_Missense_Mutation_p.E508K|TRMT2A_ENST00000403707.3_Missense_Mutation_p.E490K|TRMT2A_ENST00000492988.1_5'UTR NM_001257994.1|NM_022727.5|NM_182984.4 NP_001244923.1|NP_073564.3|NP_892029.2 Q8IZ69 TRM2A_HUMAN tRNA methyltransferase 2 homolog A (S. cerevisiae) 490 RNA processing nucleotide binding|RNA binding|RNA methyltransferase activity breast(2)|endometrium(2)|lung(5) 9 ACCAGGTCCTCGGCCCTCCCG 0.647000 19 21 0 0 1 0 0 SLC22A7 10864 broad.mit.edu 37 6 43266487 43266487 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr6:43266487G>C ENST00000372585.5 + 1 486 c.391G>C c.(391-393)Gag>Cag p.E131Q SLC22A7_ENST00000372589.3_Missense_Mutation_p.E131Q|SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372574.3_Missense_Mutation_p.E131Q NM_153320.2 NP_696961.2 Q9Y694 S22A7_HUMAN solute carrier family 22 (organic anion transporter), member 7 131 basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3) 26 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) CATTGCAACTGAGGTACTTAA 0.527000 10 24 0 0 1 0 0 PTPN12 5782 broad.mit.edu 37 7 77200497 77200497 + Silent SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr7:77200497C>T ENST00000248594.6 + 2 474 c.202C>T c.(202-204)Ctg>Ttg p.L68L PTPN12_ENST00000415482.2_5'UTR|PTPN12_ENST00000435495.2_5'UTR NM_002835.3 NP_002826.3 Q05209 PTN12_HUMAN protein tyrosine phosphatase, non-receptor type 12 68 Tyrosine-protein phosphatase. soluble fraction non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 39 CAAGGACATACTGCCATGTAA 0.328000 6 18 0 0 1 0 0 TANC2 26115 broad.mit.edu 37 17 61499280 61499280 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:61499280C>G ENST00000424789.2 + 25 5941 c.5937C>G c.(5935-5937)atC>atG p.I1979M RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.I1989M NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 1979 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 CATCCCCTATCAAACCAAAGA 0.498000 28 40 0 0 1 0 0 MECOM 2122 broad.mit.edu 37 3 168840502 168840502 + Missense_Mutation SNP T T G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr3:168840502T>G ENST00000464456.1 - 5 1480 c.280A>C c.(280-282)Atg>Ctg p.M94L MECOM_ENST00000433243.2_Missense_Mutation_p.M94L|MECOM_ENST00000494292.1_Missense_Mutation_p.M282L|MECOM_ENST00000472280.1_Missense_Mutation_p.M94L|MECOM_ENST00000468789.1_Missense_Mutation_p.M94L|MECOM_ENST00000392736.3_Missense_Mutation_p.M94L|MECOM_ENST00000460814.1_Missense_Mutation_p.M94L|MECOM_ENST00000264674.3_Missense_Mutation_p.M158L NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 TGTGACAGCATGTGTTTCTCC 0.373000 36 27 0 0 1 0 0 AGRN 375790 broad.mit.edu 37 1 979601 979601 + Silent SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:979601C>G ENST00000379370.2 + 11 2162 c.2112C>G c.(2110-2112)gtC>gtG p.V704V NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 704 Kazal-like 8. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) GGCCGTGTGTCTGTGACTTCA 0.706000 24 33 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18841068 18841068 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr16:18841068G>A ENST00000446231.2 - 54 9555 c.9143C>T c.(9142-9144)tCa>tTa p.S3048L SMG1_ENST00000389467.3_Missense_Mutation_p.S3048L Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 3048 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 ATCTTCAAGTGAACTTGATCC 0.323000 14 15 0 0 1 0 0 WDR41 55255 broad.mit.edu 37 5 76732192 76732192 + Missense_Mutation SNP C C A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr5:76732192C>A ENST00000296679.4 - 12 1496 c.1121G>T c.(1120-1122)aGa>aTa p.R374I WDR41_ENST00000507029.1_Missense_Mutation_p.R319I|WDR41_ENST00000414719.2_Missense_Mutation_p.R120I NM_018268.2 NP_060738.2 Q9HAD4 WDR41_HUMAN WD repeat domain 41 374 NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5) 14 all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059) OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40) TTTGCTGACTCTTCCAAATCC 0.353000 17 36 9.16793e-09 9.69855e-09 1 1 0 C19orf40 91442 broad.mit.edu 37 19 33467384 33467384 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:33467384G>A ENST00000588258.1 + 5 554 c.444G>A c.(442-444)aaG>aaA p.K148K C19orf40_ENST00000590281.1_Silent_p.K148K|C19orf40_ENST00000589646.1_Silent_p.K53K|C19orf40_ENST00000590179.1_Silent_p.K53K NM_152266.3 NP_689479.1 Q9BTP7 FAP24_HUMAN chromosome 19 open reading frame 40 148 DNA repair Fanconi anaemia nuclear complex chromatin binding|DNA binding|protein binding endometrium(1)|large_intestine(2)|lung(2)|prostate(2) 7 Esophageal squamous(110;0.137) TTCTCGGGAAGAAACGGGCCC 0.547000 Direct reversal of damage OREG0025408 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 68 0 0 1 0 0 CHD4 1108 broad.mit.edu 37 12 6700750 6700750 + Splice_Site SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr12:6700750C>T ENST00000309577.6 - 22 3386 c.e22-1 CHD4_ENST00000544040.1_Splice_Site|CHD4_ENST00000544484.1_Splice_Site|CHD4_ENST00000357008.2_Splice_Site Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 TCTTGGTCATCTGCAAAAGAA 0.453000 67 89 0 0 1 0 0 ADRBK1 156 broad.mit.edu 37 11 67052379 67052379 + Missense_Mutation SNP C C G rs1051181 TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr11:67052379C>G ENST00000308595.5 + 19 2006 c.1716C>G c.(1714-1716)ttC>ttG p.F572L ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Intron NM_001619.3 NP_001610.2 P25098 ARBK1_HUMAN adrenergic, beta, receptor kinase 1 572 PH. activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway cytosol|soluble fraction alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2) 22 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) Adenosine triphosphate(DB00171) GCAACCCCTTCCTGACCCAGT 0.667000 12 22 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100390126 100390126 + RNA SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr7:100390126G>A ENST00000542585.1 + 0 7957 ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GCCAGGAGGCGGGCGCTGCCC 0.677000 14 13 0 0 1 0 0 TRO 7216 broad.mit.edu 37 X 54955643 54955643 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chrX:54955643C>G ENST00000173898.7 + 12 2598 c.2486C>G c.(2485-2487)tCt>tGt p.S829C TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.S360C|TRO_ENST00000375041.2_Missense_Mutation_p.S432C NM_001039705.2 NP_001034794.1 Q12816 TROP_HUMAN trophinin 829 62 X 10 AA approximate tandem repeats. embryo implantation|homophilic cell adhesion integral to plasma membrane breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 GGAGTCAGCTCTAGTTTTAGT 0.547000 41 6 0 0 1 0 0 FERMT3 83706 broad.mit.edu 37 11 63978782 63978782 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr11:63978782C>T ENST00000279227.5 + 5 645 c.550C>T c.(550-552)Cac>Tac p.H184Y FERMT3_ENST00000345728.5_Missense_Mutation_p.H184Y NM_178443.2 NP_848537.1 Q86UX7 URP2_HUMAN fermitin family member 3 184 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 GATGCCAGCTCACTTCTCGGA 0.706000 11 9 0 0 1 0 0 SLC38A6 145389 broad.mit.edu 37 14 61517300 61517300 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr14:61517300G>A ENST00000354886.2 + 13 1160 c.996G>A c.(994-996)gtG>gtA p.V332V SLC38A6_ENST00000267488.4_Silent_p.V332V|SLC38A6_ENST00000456840.2_Silent_p.V309V NM_001172702.1 NP_001166173.1 Q8IZM9 S38A6_HUMAN solute carrier family 38, member 6 332 amino acid transport|sodium ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(108;0.0981) TCATGACTGTGAAGTTATGCA 0.343000 11 23 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 41990541 41990541 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:41990541C>T ENST00000372584.1 - 5 6262 c.5248G>A c.(5248-5250)Ggc>Agc p.G1750S HIVEP3_ENST00000460604.1_Intron|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G1750S|HIVEP3_ENST00000372583.1_Missense_Mutation_p.G1750S|HIVEP3_ENST00000429157.2_Missense_Mutation_p.G1750S NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 1750 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) TTCCCTCGGCCGCGGCCTCGC 0.502000 18 34 0 0 1 0 0 PRPF19 27339 broad.mit.edu 37 11 60671234 60671234 + Missense_Mutation SNP T T C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr11:60671234T>C ENST00000227524.4 - 2 324 c.119A>G c.(118-120)gAc>gGc p.D40G NM_014502.4 NP_055317.1 Q9UMS4 PRP19_HUMAN pre-mRNA processing factor 19 40 U-box. DNA repair|protein polyubiquitination|spliceosome assembly catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 22 GTTGATGGGGTCGGTACCATT 0.532000 22 42 0 0 1 0 0 SALL2 6297 broad.mit.edu 37 14 21990340 21990340 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr14:21990340C>T ENST00000450879.2 - 4 2622 c.2523G>A c.(2521-2523)atG>atA p.M841I AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000327430.3_3'UTR|SALL2_ENST00000317492.5_Missense_Mutation_p.E144K|SALL2_ENST00000538754.1_Missense_Mutation_p.E142K Q9Y467 SALL2_HUMAN spalt-like transcription factor 2 972 Poly-Pro. DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2) 43 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) TCCAGGGCTTCATGGGCAGGC 0.567000 3 9 0 0 1 0 0 TJP1 7082 broad.mit.edu 37 15 30019056 30019056 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr15:30019056G>A ENST00000346128.6 - 17 2714 c.2240C>T c.(2239-2241)tCt>tTt p.S747F TJP1_ENST00000356107.6_Missense_Mutation_p.S747F|TJP1_ENST00000400011.2_Missense_Mutation_p.S751F|TJP1_ENST00000545208.2_Missense_Mutation_p.S747F NM_003257.3|NM_175610.2 NP_003248.3|NP_783297.2 Q07157 ZO1_HUMAN tight junction protein 1 747 Guanylate kinase-like. cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) ACTTTTCCGAGATTCTGGACA 0.363000 42 67 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64449432 64449432 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr14:64449432G>C ENST00000358025.3 + 17 2151 c.1921G>C c.(1921-1923)Gat>Cat p.D641H SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.D641H|SYNE2_ENST00000344113.4_Missense_Mutation_p.D641H NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 641 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AGTCAGCAATGATGTGGTTGG 0.373000 30 43 0 0 1 0 0 AOAH 313 broad.mit.edu 37 7 36552772 36552772 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr7:36552772C>T ENST00000431169.1 - 22 2233 c.1933G>A c.(1933-1935)Gtc>Atc p.V645I AOAH_ENST00000538464.1_3'UTR|AOAH_ENST00000258749.5_3'UTR|AOAH_ENST00000535891.1_3'UTR NM_001177506.1 NP_001170977.1 P28039 AOAH_HUMAN acyloxyacyl hydrolase (neutrophil) 0 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 GGGCCTGTGACGTGGCAGCCC 0.562000 27 22 0 0 1 0 0 FKBP15 23307 broad.mit.edu 37 9 115931520 115931520 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr9:115931520G>A ENST00000238256.3 - 26 3586 c.3469C>T c.(3469-3471)Cat>Tat p.H1157Y NM_015258.1 NP_056073.1 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 1157 endocytosis|protein folding axon|early endosome actin binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 CGCTGGGAATGATGGCTGGGT 0.542000 13 15 0 0 1 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57076206 57076206 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr11:57076206C>G ENST00000532437.1 - 5 4290 c.3979G>C c.(3979-3981)Gac>Cac p.D1327H TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.D1327H Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 1327 Acidic.|Gly-rich. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) CCTCCAGAGTCTGGGTCACAG 0.607000 56 100 0 0 1 0 0 TPD52L1 7164 broad.mit.edu 37 6 125578274 125578274 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr6:125578274G>A ENST00000534000.1 + 6 752 c.456G>A c.(454-456)gaG>gaA p.E152E HDDC2_ENST00000608456.1_Intron|TPD52L1_ENST00000527711.1_Silent_p.E139E|TPD52L1_ENST00000368388.2_Intron|TPD52L1_ENST00000524679.1_Intron|TPD52L1_ENST00000392482.2_Intron|TPD52L1_ENST00000530868.1_3'UTR|TPD52L1_ENST00000528193.1_Silent_p.E152E|TPD52L1_ENST00000532429.1_Silent_p.E123E|TPD52L1_ENST00000368402.5_Intron|TPD52L1_ENST00000304877.13_Silent_p.E157E|TPD52L1_ENST00000534199.1_Intron NM_003287.2 NP_003278.1 Q16890 TPD53_HUMAN tumor protein D52-like 1 152 DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity perinuclear region of cytoplasm caspase activator activity|protein heterodimerization activity|protein homodimerization activity endometrium(2)|large_intestine(2)|prostate(1) 5 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0265) CATTTGAGGAGAGGGTTGAGA 0.443000 8 23 0 0 1 0 0 PVR 5817 broad.mit.edu 37 19 45157217 45157217 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:45157217G>A ENST00000425690.3 + 4 1072 c.773G>A c.(772-774)gGc>gAc p.G258D PVR_ENST00000344956.4_Missense_Mutation_p.G258D|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000403059.4_Missense_Mutation_p.G258D|PVR_ENST00000406449.4_Missense_Mutation_p.G258D NM_006505.3 NP_006496.3 P15151 PVR_HUMAN poliovirus receptor 258 Ig-like C2-type 2. adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus cell adhesion molecule binding|receptor activity large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 6 Lung NSC(12;0.00608)|all_lung(12;0.0148) Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112) Epithelial(262;0.000601) TGGTACCTTGGCCAGAATGAG 0.582000 88 71 0 0 1 0 0 WASH2P 375260 broad.mit.edu 37 2 114355200 114355200 + RNA SNP A A G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr2:114355200A>G ENST00000538033.2 + 0 2139 gaagaagcagaaggagcagga 0.652000 4 4 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16902160 16902160 + Splice_Site SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:16902160G>C ENST00000524140.2 + 14 3358 c.e14-1 NWD1_ENST00000523826.1_Splice_Site|NWD1_ENST00000379808.3_Splice_Site|NWD1_ENST00000549814.1_Splice_Site|NWD1_ENST00000339803.6_Splice_Site|NWD1_ENST00000552788.1_Splice_Site NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TATTCTATTAGATCAATGCTT 0.483000 31 69 0 0 1 0 0 TMEM120B 144404 broad.mit.edu 37 12 122199641 122199641 + Nonsense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr12:122199641C>G ENST00000449592.2 + 6 649 c.548C>G c.(547-549)tCa>tGa p.S183* TMEM120B_ENST00000540377.1_5'UTR NM_001080825.2 NP_001074294.2 A0PK00 T120B_HUMAN transmembrane protein 120B 183 integral to membrane p.S183*(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6) 11 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238) AGCAACGGCTCAAGGTACCTG 0.557000 14 31 0 0 1 0 0 EHMT1 79813 broad.mit.edu 37 9 140695358 140695358 + Silent SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr9:140695358C>T ENST00000460843.1 + 18 2661 c.2634C>T c.(2632-2634)atC>atT p.I878I NM_024757.4 NP_079033.4 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 878 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) CACCCATGATCTGGGCCACAG 0.587000 4 21 0 0 1 0 0 TRIM33 51592 broad.mit.edu 37 1 114940612 114940612 + Splice_Site SNP T T C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:114940612T>C ENST00000358465.2 - 19 3204 c.3121A>G c.(3121-3123)Atg>Gtg p.M1041V TRIM33_ENST00000369543.2_Intron|TRIM33_ENST00000450349.2_Splice_Site_p.M673V NM_015906.3 NP_056990.3 Q9UPN9 TRI33_HUMAN tripartite motif containing 33 1041 Bromo. negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) ACTTTCATCATCTAAAAAGGA 0.343000 T RET papillary thyroid 22 52 0 0 1 0 0 CCDC121 79635 broad.mit.edu 37 2 27850502 27850502 + Silent SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr2:27850502C>T ENST00000324364.3 - 2 345 c.165G>A c.(163-165)gaG>gaA p.E55E ZNF512_ENST00000556601.1_Intron|RP11-158I13.2_ENST00000505973.1_RNA|CCDC121_ENST00000394775.3_Silent_p.E217E NM_024584.4 NP_078860.2 Q6ZUS5 CC121_HUMAN coiled-coil domain containing 121 55 breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2) 14 Acute lymphoblastic leukemia(172;0.155) TCCATACCTTCTCAGGTTGCT 0.408000 64 110 0 0 1 0 0 PNN 5411 broad.mit.edu 37 14 39644553 39644553 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr14:39644553G>A ENST00000216832.4 + 1 137 c.70G>A c.(70-72)Gag>Aag p.E24K PNN_ENST00000556530.1_Missense_Mutation_p.E24K|RP11-407N17.4_ENST00000556537.1_lincRNA|PNN_ENST00000553331.1_Missense_Mutation_p.E24K NM_002687.3 NP_002678 Q9H307 PININ_HUMAN pinin, desmosome associated protein 24 Necessary for interaction with RNPS1.|Necessary for interactions with KRT8, KRT18 and KRT19.|Necessary for mediating alternative 5' splicing. cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck DNA binding|protein binding|structural molecule activity breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1) 27 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0119) GAACGTGGATGAGAACATTCG 0.577000 5 20 0 0 1 0 0 CDK11A 728642 broad.mit.edu 37 1 1650892 1650892 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:1650892C>G ENST00000356200.3 - 3 362 c.128G>C c.(127-129)gGa>gCa p.G43A CDK11A_ENST00000404249.3_Missense_Mutation_p.G77A|CDK11A_ENST00000378635.3_Missense_Mutation_p.G77A|CDK11A_ENST00000357760.2_Missense_Mutation_p.G77A|CDK11A_ENST00000378638.2_Missense_Mutation_p.G43A|CDK11A_ENST00000358779.5_Missense_Mutation_p.G77A|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378633.1_Missense_Mutation_p.G77A cyclin-dependent kinase 11A central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1) 18 ATCTTCTTCTCCTCTGAAATA 0.388000 42 90 0 0 1 0 0 GRB14 2888 broad.mit.edu 37 2 165404308 165404308 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr2:165404308C>T ENST00000263915.3 - 3 881 c.343G>A c.(343-345)Gaa>Aaa p.E115K GRB14_ENST00000543549.1_Missense_Mutation_p.E28K NM_004490.2 NP_004481.2 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 115 Ras-associating. blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 GTTTCATCTTCACTGTATACT 0.338000 9 24 0 0 1 0 0 NR4A3 8013 broad.mit.edu 37 9 102590462 102590462 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr9:102590462G>A ENST00000330847.1 + 2 215 c.171G>A c.(169-171)gaG>gaA p.E57E NR4A3_ENST00000338488.4_Silent_p.E46E|NR4A3_ENST00000395097.2_Silent_p.E46E Q92570 NR4A3_HUMAN nuclear receptor subfamily 4, group A, member 3 46 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2) Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) GCAGCACTGAGATCACGGCTA 0.562000 T EWSR1 extraskeletal myxoid chondrosarcoma 19 39 0 0 1 0 0 MARK2 2011 broad.mit.edu 37 11 63666131 63666131 + Missense_Mutation SNP A A T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr11:63666131A>T ENST00000402010.2 + 5 968 c.389A>T c.(388-390)gAg>gTg p.E130V MARK2_ENST00000413835.2_Missense_Mutation_p.E130V|MARK2_ENST00000408948.3_Missense_Mutation_p.E97V|MARK2_ENST00000361128.5_Missense_Mutation_p.E130V|MARK2_ENST00000509502.2_Missense_Mutation_p.E97V|MARK2_ENST00000350490.7_Missense_Mutation_p.E130V|MARK2_ENST00000425897.2_Missense_Mutation_p.E97V|MARK2_ENST00000513765.2_Missense_Mutation_p.E97V|MARK2_ENST00000315032.8_Missense_Mutation_p.E130V|MARK2_ENST00000502399.3_Missense_Mutation_p.E130V|MARK2_ENST00000377809.4_Missense_Mutation_p.E130V|MARK2_ENST00000377810.3_Missense_Mutation_p.E97V|MARK2_ENST00000508192.1_Missense_Mutation_p.E130V NM_001039469.2 NP_001034558.2 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 130 Protein kinase. cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 CTTGTCATGGAGTACGCTAGT 0.498000 26 45 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713368 142713368 + RNA SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:142713368G>C ENST00000610091.1 - 0 2290 TTAAGGTATTGAGTTTAATTT 0.343000 10 13 0 0 1 0 0 CYP2D7 1564 broad.mit.edu 37 22 42537628 42537628 + RNA SNP T T C rs150786922 by1000genomes TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr22:42537628T>C ENST00000433992.1 - 0 1012 CYP2D7P1_ENST00000358097.4_RNA endometrium(1) 1 AGGAACAGGTTACCCACCACT 0.612000 3 19 0 0 1 0 0 SLC25A39 51629 broad.mit.edu 37 17 42400878 42400878 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:42400878G>A ENST00000225308.8 - 2 227 c.53C>T c.(52-54)tCa>tTa p.S18L SLC25A39_ENST00000377095.5_Missense_Mutation_p.S18L|SLC25A39_ENST00000590194.1_Missense_Mutation_p.S18L|SLC25A39_ENST00000586016.1_Intron|SLC25A39_ENST00000537904.2_Missense_Mutation_p.S18L NM_016016.2 NP_057100.1 Q9BZJ4 S2539_HUMAN solute carrier family 25, member 39 18 heme biosynthetic process|transport integral to membrane|mitochondrial inner membrane endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 7 Prostate(33;0.0233) BRCA - Breast invasive adenocarcinoma(366;0.189) CCCGGTGCCTGAGGCCACCAT 0.607000 3 3 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144993273 144993273 + Silent SNP G G A rs34365303 TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr8:144993273G>A ENST00000322810.4 - 32 11296 c.11127C>T c.(11125-11127)atC>atT p.I3709I PLEC_ENST00000357649.2_Silent_p.I3576I|PLEC_ENST00000356346.3_Silent_p.I3558I|PLEC_ENST00000436759.2_Silent_p.I3599I|PLEC_ENST00000354589.3_Silent_p.I3572I|PLEC_ENST00000354958.2_Silent_p.I3550I|PLEC_ENST00000527096.1_Silent_p.I3595I|PLEC_ENST00000398774.2_Silent_p.I3540I|PLEC_ENST00000345136.3_Silent_p.I3572I NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3709 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CGGGAATGTCGATCTGTGTCT 0.632000 7 150 0 0 1 0 0 DYRK1B 9149 broad.mit.edu 37 19 40316442 40316442 + Silent SNP T T G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:40316442T>G ENST00000593685.1 - 11 2271 c.1803A>C c.(1801-1803)ccA>ccC p.P601P DYRK1B_ENST00000597639.1_Silent_p.P573P|DYRK1B_ENST00000348817.3_Silent_p.P573P|DYRK1B_ENST00000323039.5_Silent_p.P601P|DYRK1B_ENST00000430012.2_Silent_p.P561P Q9Y463 DYR1B_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B 601 positive regulation of transcription, DNA-dependent nucleus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 24 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) GCGGGAGGGGTGGACGACCTC 0.716000 5 8 0 0 1 0 0 ZNF425 155054 broad.mit.edu 37 7 148802519 148802519 + Silent SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr7:148802519G>C ENST00000378061.2 - 4 576 c.444C>G c.(442-444)ctC>ctG p.L148L NM_001001661.2 NP_001001661.1 Q6IV72 ZN425_HUMAN zinc finger protein 425 148 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) CTGTTTCTCGGAGACTTGGAG 0.458000 24 49 0 0 1 0 0 KARS 3735 broad.mit.edu 37 16 75663370 75663370 + Silent SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr16:75663370C>T ENST00000319410.5 - 13 1699 c.1578G>A c.(1576-1578)gcG>gcA p.A526A KARS_ENST00000302445.3_Silent_p.A498A|KARS_ENST00000568378.1_Intron NM_001130089.1 NP_001123561.1 Q15046 SYK_HUMAN lysyl-tRNA synthetase 498 interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding p.A498A(1) kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 18 L-Lysine(DB00123) GCTCAGTATACGCATTGCATA 0.517000 36 69 0 0 1 0 0 NGF 4803 broad.mit.edu 37 1 115829160 115829160 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:115829160C>T ENST00000369512.2 - 3 425 c.257G>A c.(256-258)cGt>cAt p.R86H RP4-663N10.1_ENST00000425449.1_RNA NM_002506.2 NP_002497.2 P01138 NGF_HUMAN nerve growth factor (beta polypeptide) 86 activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|Golgi lumen growth factor activity|nerve growth factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) AAACAGCACACGGGGTGAACG 0.632000 11 30 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3788651 3788651 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr16:3788651C>G ENST00000262367.5 - 26 5112 c.4303G>C c.(4303-4305)Gat>Cat p.D1435H CREBBP_ENST00000382070.3_Missense_Mutation_p.D1397H NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1435 Cys/His-rich. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding p.D1435Y(1) NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TGAATACTATCCAGATAAGAA 0.433000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 5 10 0 0 1 0 0 ETFB 2109 broad.mit.edu 37 19 51857428 51857428 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:51857428G>A ENST00000354232.4 - 1 2932 c.465C>T c.(463-465)gtC>gtT p.V155V CTD-2616J11.11_ENST00000600067.1_3'UTR|ETFB_ENST00000309244.4_Silent_p.V64V NM_001014763.1 NP_001014763.1 P38117 ETFB_HUMAN electron-transfer-flavoprotein, beta polypeptide 64 respiratory electron transport chain|transport mitochondrial matrix electron carrier activity kidney(2)|large_intestine(1)|lung(3) 6 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661) GCCCACAGCTGACGGCGATGA 0.627000 11 26 0 0 1 0 0 HTRA3 94031 broad.mit.edu 37 4 8288376 8288376 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr4:8288376G>A ENST00000307358.2 + 3 778 c.574G>A c.(574-576)Gtg>Atg p.V192M HTRA3_ENST00000382512.3_Missense_Mutation_p.V192M NM_053044.3 NP_444272.1 P83110 HTRA3_HUMAN HtrA serine peptidase 3 192 Serine protease. proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1) 18 CAATGCCCACGTGGTGTCCAG 0.602000 28 34 0 0 1 0 0 PTGS2 5743 broad.mit.edu 37 1 186643532 186643532 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:186643532C>T ENST00000367468.5 - 10 1904 c.1768G>A c.(1768-1770)Gat>Aat p.D590N PTGS2_ENST00000490885.2_5'UTR NM_000963.2 NP_000954.1 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) 590 cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580) GGATTGATATCATCTAGTCCG 0.368000 26 52 0 0 1 0 0 MAP3K8 1326 broad.mit.edu 37 10 30727904 30727904 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr10:30727904G>C ENST00000263056.1 + 3 733 c.37G>C c.(37-39)Gag>Cag p.E13Q MAP3K8_ENST00000375322.2_Missense_Mutation_p.E13Q|MAP3K8_ENST00000542547.1_Missense_Mutation_p.E13Q|MAP3K8_ENST00000375321.1_Missense_Mutation_p.E13Q NM_001244134.1|NM_005204.3 NP_001231063.1|NP_005195.2 P41279 M3K8_HUMAN mitogen-activated protein kinase kinase kinase 8 13 cell cycle|T cell costimulation cytosol ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Prostate(175;0.151) CAATAAAGAAGAGATTGATTT 0.323000 7 15 0 0 1 0 0 DCHS1 8642 broad.mit.edu 37 11 6643190 6643190 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr11:6643190G>A ENST00000299441.3 - 21 10128 c.9717C>T c.(9715-9717)atC>atT p.I3239I RP11-732A19.5_ENST00000526456.1_RNA NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 3239 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTTCATGGCTGATGGGGGAGC 0.642000 7 6 0 0 1 0 0 PARK2 5071 broad.mit.edu 37 6 162622255 162622255 + Missense_Mutation SNP C C A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr6:162622255C>A ENST00000366898.1 - 4 544 c.442G>T c.(442-444)Gtg>Ttg p.V148L PARK2_ENST00000366894.1_5'UTR|PARK2_ENST00000366892.1_Missense_Mutation_p.V148L|PARK2_ENST00000366897.1_Missense_Mutation_p.V148L|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000338468.3_Intron NM_004562.2 NP_004553.2 O60260 PRKN2_HUMAN parkin RBR E3 ubiquitin protein ligase 148 aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) TTGCAATACACATAAAAGCTG 0.458000 9 38 0.000442599 0.00045363 1 1 0 OR6N2 81442 broad.mit.edu 37 1 158747279 158747279 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:158747279G>A ENST00000339258.1 - 1 146 c.147C>T c.(145-147)atC>atT p.I49I NM_001005278.1 NP_001005278.1 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, member 2 49 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(112;0.0378) CATCCAGTCGGATGACTGAGA 0.483000 25 77 0 0 1 0 0 LHCGR 3973 broad.mit.edu 37 2 48915216 48915216 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr2:48915216G>A ENST00000294954.7 - 11 1741 c.1720C>T c.(1720-1722)Ctc>Ttc p.L574F LHCGR_ENST00000405626.1_Missense_Mutation_p.L547F|LHCGR_ENST00000344775.3_Missense_Mutation_p.L512F|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_3'UTR|STON1-GTF2A1L_ENST00000402114.2_Intron NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 574 male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) GTGAAGATGAGGATTGCCATT 0.363000 41 64 0 0 1 0 0 SPOP 8405 broad.mit.edu 37 17 47688672 47688672 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:47688672C>G ENST00000393331.3 - 8 1098 c.628G>C c.(628-630)Gaa>Caa p.E210Q SPOP_ENST00000347630.2_Missense_Mutation_p.E210Q|SPOP_ENST00000504102.1_Missense_Mutation_p.E210Q|SPOP_ENST00000393328.2_Missense_Mutation_p.E210Q|SPOP_ENST00000503676.1_Missense_Mutation_p.E210Q NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 210 BTB. mRNA processing nucleus protein binding endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 GCCTGGAATTCCTGGCCGGCA 0.453000 Prostate(2;0.17) 77 94 0 0 1 0 0 WDR34 89891 broad.mit.edu 37 9 131396647 131396647 + Silent SNP G G A rs146817584 TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr9:131396647G>A ENST00000372715.2 - 8 1290 c.1230C>T c.(1228-1230)agC>agT p.S410S NM_052844.3 NP_443076.2 Q96EX3 WDR34_HUMAN WD repeat domain 34 410 cytoplasm central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1) 9 CAGTCCCAGCGCTCAGGAAGA 0.627000 15 34 0 0 1 0 0 BEND4 389206 broad.mit.edu 37 4 42145579 42145579 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr4:42145579G>A ENST00000502486.1 - 3 1499 c.920C>T c.(919-921)tCa>tTa p.S307L BEND4_ENST00000504360.1_Missense_Mutation_p.S303L NM_207406.3 NP_997289.2 Q6ZU67 BEND4_HUMAN BEN domain containing 4 307 NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 CAGTGTAGATGAAGATGGGTG 0.542000 4 3 0 0 1 0 0 LRG1 116844 broad.mit.edu 37 19 4538815 4538815 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:4538815C>T ENST00000306390.6 - 2 641 c.181G>A c.(181-183)Gaa>Aaa p.E61K CTB-50L17.14_ENST00000586020.1_Intron|LRG1_ENST00000586883.1_5'UTR NM_052972.2 NP_443204.1 P02750 A2GL_HUMAN leucine-rich alpha-2-glycoprotein 1 61 extracellular region|membrane NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) CCGGGGATTTCGGCAGGTGGT 0.637000 6 61 0 0 1 0 0 GRIN1 2902 broad.mit.edu 37 9 140057342 140057342 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr9:140057342G>C ENST00000371561.3 + 15 3155 c.2058G>C c.(2056-2058)caG>caC p.Q686H GRIN1_ENST00000371559.4_Missense_Mutation_p.Q686H|GRIN1_ENST00000371560.3_Missense_Mutation_p.Q707H|GRIN1_ENST00000350902.5_Missense_Mutation_p.Q686H|GRIN1_ENST00000371555.4_Missense_Mutation_p.Q707H|GRIN1_ENST00000371550.4_Missense_Mutation_p.Q686H|GRIN1_ENST00000371546.4_Missense_Mutation_p.Q707H|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371553.3_Missense_Mutation_p.Q707H|GRIN1_ENST00000315048.3_Missense_Mutation_p.Q686H NM_007327.3 NP_015566.1 Q05586 NMDZ1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 1 686 ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) CGGTGAAGCAGAGCTCCGTGG 0.637000 3 5 0 0 1 0 0 CCDC28A 25901 broad.mit.edu 37 6 139106381 139106381 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr6:139106381G>A ENST00000332797.6 + 4 765 c.610G>A c.(610-612)Gaa>Aaa p.E204K NM_015439.2 NP_056254.1 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A 204 autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1) 13 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) ATGTTCCATTGAACAGATGGA 0.393000 34 42 0 0 1 0 0 KRI1 65095 broad.mit.edu 37 19 10670361 10670361 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:10670361G>C ENST00000312962.6 - 11 988 c.969C>G c.(967-969)atC>atG p.I323M KRI1_ENST00000361821.5_Missense_Mutation_p.I319M NM_023008.3 NP_075384.3 Q8N9T8 KRI1_HUMAN KRI1 homolog (S. cerevisiae) 323 Glu-rich. NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) CGGAGGACGCGATGCTGCGTG 0.617000 17 49 0 0 1 0 0 SNCAIP 9627 broad.mit.edu 37 5 121759024 121759024 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr5:121759024G>A ENST00000261367.7 + 6 2161 c.733G>A c.(733-735)Gag>Aag p.E245K SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.E245K|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379536.2_Missense_Mutation_p.E198K|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000261368.8_Missense_Mutation_p.E198K|SNCAIP_ENST00000503116.2_Missense_Mutation_p.E245K Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 198 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) AGGAAGTTCTGAGAGCTCATC 0.463000 33 61 0 0 1 0 0 PHLPP2 23035 broad.mit.edu 37 16 71718490 71718490 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr16:71718490C>G ENST00000393524.2 - 4 1357 c.624G>C c.(622-624)aaG>aaC p.K208N PHLPP2_ENST00000568954.1_Missense_Mutation_p.K208N|PHLPP2_ENST00000360429.3_Missense_Mutation_p.K208N|PHLPP2_ENST00000356272.3_Missense_Mutation_p.K208N|PHLPP2_ENST00000567016.1_Missense_Mutation_p.K243N Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein phosphatase 2 208 PH. cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 ATTGCCGTCGCTTCACTTCTT 0.473000 7 18 0 0 1 0 0 MUC6 4588 broad.mit.edu 37 11 1026380 1026380 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr11:1026380G>A ENST00000421673.2 - 20 2543 c.2493C>T c.(2491-2493)ttC>ttT p.F831F NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 831 maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) AGACCCCCGAGAACTCACATG 0.647000 6 11 0 0 1 0 0 VARS2 57176 broad.mit.edu 37 6 30891140 30891140 + Missense_Mutation SNP C C A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr6:30891140C>A ENST00000321897.5 + 24 2956 c.2324C>A c.(2323-2325)tCc>tAc p.S775Y VARS2_ENST00000416670.2_Missense_Mutation_p.S775Y|VARS2_ENST00000542001.1_Missense_Mutation_p.S635Y|VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000541562.1_Missense_Mutation_p.S805Y Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 775 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1) 46 CTGTCTCCCTCCTCCCCGATG 0.657000 12 30 1.08611e-07 1.14163e-07 1 1 0 EPM2AIP1 9852 broad.mit.edu 37 3 37033161 37033161 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr3:37033161C>G ENST00000322716.5 - 1 1634 c.1408G>C c.(1408-1410)Gaa>Caa p.E470Q NM_014805.3 NP_055620.1 Q7L775 EPMIP_HUMAN EPM2A (laforin) interacting protein 1 470 endoplasmic reticulum breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2) 27 CTCTCAAATTCTTTTTGGAGA 0.328000 10 38 0 0 1 0 0 RBL2 5934 broad.mit.edu 37 16 53524211 53524211 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr16:53524211G>A ENST00000262133.6 + 22 3556 c.3419G>A c.(3418-3420)tGa>tAa p.*1140* RBL2_ENST00000544545.1_Silent_p.*519*|RBL2_ENST00000379935.4_3'UTR NM_005611.3 NP_005602.3 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 0 cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GGTTCCCACTGAGGTTAGTCT 0.403000 16 36 0 0 1 0 0 TTLL6 284076 broad.mit.edu 37 17 46862485 46862485 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:46862485C>T ENST00000393382.3 - 13 1981 c.1840G>A c.(1840-1842)Gac>Aac p.D614N TTLL6_ENST00000433608.2_Missense_Mutation_p.D307N NM_001130918.1 NP_001124390.1 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 566 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 AGGCTGCTGTCTGTTTCATTT 0.512000 48 96 0 0 1 0 0 TRIM74 378108 broad.mit.edu 37 7 72436447 72436447 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr7:72436447G>A ENST00000285805.3 - 2 441 c.242C>T c.(241-243)cCt>cTt p.P81L TRIM74_ENST00000395244.1_Missense_Mutation_p.P81L NM_198853.1 NP_942150.1 Q86UV6 TRI74_HUMAN tripartite motif containing 74 81 intracellular zinc ion binding prostate(1) 1 CGGGTCCCCAGGGAGCCTCAG 0.662000 23 63 0 0 1 0 0 VIT 5212 broad.mit.edu 37 2 36994239 36994239 + Nonsense_Mutation SNP G G T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr2:36994239G>T ENST00000379242.3 + 7 792 c.490G>T c.(490-492)Gag>Tag p.E164* VIT_ENST00000389975.3_Nonsense_Mutation_p.E164*|VIT_ENST00000401530.1_Nonsense_Mutation_p.E164*|VIT_ENST00000404084.1_Nonsense_Mutation_p.E142*|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000379241.3_Nonsense_Mutation_p.E164* NM_053276.3 NP_444506.2 Q6UXI7 VITRN_HUMAN vitrin 164 proteinaceous extracellular matrix autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_hematologic(82;0.248) TCTTACAGGTGAGACCACAAA 0.448000 13 12 1.05317e-09 1.11772e-09 1 1 0 ZFHX3 463 broad.mit.edu 37 16 72831063 72831063 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr16:72831063G>C ENST00000268489.5 - 9 6190 c.5518C>G c.(5518-5520)Cag>Gag p.Q1840E ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q926E NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 1840 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) TGTGGGACCTGAACCTGAGCC 0.592000 30 37 0 0 1 0 0 MAP4K1 11184 broad.mit.edu 37 19 39104548 39104548 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:39104548G>A ENST00000591517.1 - 8 533 c.505C>T c.(505-507)Cgc>Tgc p.R169C MAP4K1_ENST00000586296.1_Missense_Mutation_p.R169C|MAP4K1_ENST00000396857.2_Missense_Mutation_p.R169C|MAP4K1_ENST00000423454.2_De_novo_Start_InFrame|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000589130.1_Missense_Mutation_p.R165C NM_007181.4 NP_009112.1 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase kinase 1 169 Protein kinase. activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 44 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) AAAGAGAGGCGTCTGGCCAGT 0.627000 7 16 0 0 1 0 0 PLXNB2 23654 broad.mit.edu 37 22 50727555 50727555 + Missense_Mutation SNP A A G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr22:50727555A>G ENST00000449103.1 - 4 1225 c.1085T>C c.(1084-1086)tTc>tCc p.F362S PLXNB2_ENST00000359337.4_Missense_Mutation_p.F362S O15031 PLXB2_HUMAN plexin B2 362 Sema. regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GCCACATGGGAAGCTCTTGCT 0.687000 3 10 0 0 1 0 0 MAP3K8 1326 broad.mit.edu 37 10 30727994 30727994 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr10:30727994G>C ENST00000263056.1 + 3 823 c.127G>C c.(127-129)Gaa>Caa p.E43Q MAP3K8_ENST00000375322.2_Missense_Mutation_p.E43Q|MAP3K8_ENST00000542547.1_Missense_Mutation_p.E43Q|MAP3K8_ENST00000375321.1_Missense_Mutation_p.E43Q NM_001244134.1|NM_005204.3 NP_001231063.1|NP_005195.2 P41279 M3K8_HUMAN mitogen-activated protein kinase kinase kinase 8 43 cell cycle|T cell costimulation cytosol ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Prostate(175;0.151) AGCAGTTTATGAACCCAGTCT 0.363000 14 40 0 0 1 0 0 USP29 57663 broad.mit.edu 37 19 57642078 57642078 + Missense_Mutation SNP G G A rs143453181 TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:57642078G>A ENST00000254181.4 + 4 2489 c.2035G>A c.(2035-2037)Gag>Aag p.E679K USP29_ENST00000598197.1_Missense_Mutation_p.E679K NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 679 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AAGGCTTGTCGAGGTTCATCT 0.468000 9 50 0 0 1 0 0 NOTCH2 4853 broad.mit.edu 37 1 120462189 120462189 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:120462189C>G ENST00000256646.2 - 31 5746 c.5527G>C c.(5527-5529)Gat>Cat p.D1843H NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 1843 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) TCACTCAAATCTGAGCTGCCT 0.498000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 7 14 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50724724 50724724 + Nonsense_Mutation SNP C C A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr2:50724724C>A ENST00000404971.1 - 15 4085 c.2746G>T c.(2746-2748)Gga>Tga p.G916* NRXN1_ENST00000401669.2_Nonsense_Mutation_p.G876*|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.G868*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.G868*|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406316.2_Nonsense_Mutation_p.G876*|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.G876* NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 876 Laminin G-like 5. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TATGCCATTCCATTAAATGTC 0.438000 9 28 0.00448238 0.00455155 1 1 0 SLC30A2 7780 broad.mit.edu 37 1 26371526 26371526 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:26371526G>C ENST00000374278.3 - 2 449 c.233C>G c.(232-234)tCt>tGt p.S78C SLC30A2_ENST00000498060.1_5'UTR|SLC30A2_ENST00000374276.3_Missense_Mutation_p.S78C NM_032513.3 NP_115902.1 Q9BRI3 ZNT2_HUMAN solute carrier family 30 (zinc transporter), member 2 78 positive regulation of sequestering of zinc ion|zinc ion transport integral to membrane|late endosome|lysosomal membrane cation transmembrane transporter activity cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-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;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649) GCAGATGGCAGAGGCTACATA 0.527000 28 78 0 0 1 0 0 C5orf42 65250 broad.mit.edu 37 5 37154070 37154070 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr5:37154070G>C ENST00000274258.7 - 41 8264 c.4677C>G c.(4675-4677)ttC>ttG p.F1559L C5orf42_ENST00000425232.2_Missense_Mutation_p.F2661L|C5orf42_ENST00000508244.1_Missense_Mutation_p.F2661L E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 2661 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) TCTGTCCTTTGAATCGGAACT 0.393000 22 27 0 0 1 0 0 PANK2 80025 broad.mit.edu 37 20 3888748 3888748 + Silent SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr20:3888748C>T ENST00000316562.4 + 2 810 c.804C>T c.(802-804)ctC>ctT p.L268L PANK2_ENST00000497424.1_5'UTR|PANK2_ENST00000610179.1_Silent_p.L145L NM_153638.2 NP_705902.2 Q9BZ23 PANK2_HUMAN pantothenate kinase 2 268 cell death|coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial intermembrane space|nucleus ATP binding|pantothenate kinase activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 ACGTGCACCTCGAGCTGAAGG 0.478000 14 59 0 0 1 0 0 ZMIZ1 57178 broad.mit.edu 37 10 81037044 81037044 + Silent SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr10:81037044C>G ENST00000334512.5 + 8 959 c.387C>G c.(385-387)ctC>ctG p.L129L ZMIZ1_ENST00000478357.1_3'UTR NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 129 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) AGCCCCCTCTCAGCTCCATGA 0.622000 3 28 0 0 1 0 0 PHACTR4 65979 broad.mit.edu 37 1 28817511 28817511 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:28817511G>C ENST00000373839.3 + 11 2126 c.1865G>C c.(1864-1866)cGg>cCg p.R622P PHACTR4_ENST00000373836.3_Missense_Mutation_p.R632P|PHACTR4_ENST00000493669.1_3'UTR NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 622 actin binding|protein phosphatase inhibitor activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) ATTAAACGTCGGCTCACTAGA 0.383000 8 25 0 0 1 0 0 BASP1 10409 broad.mit.edu 37 5 17275374 17275374 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr5:17275374G>A ENST00000322611.3 + 2 309 c.49G>A c.(49-51)Gag>Aag p.E17K NM_001271606.1|NM_006317.3 NP_001258535.1|NP_006308.3 P80723 BASP1_HUMAN brain abundant, membrane attached signal protein 1 17 glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding endometrium(1)|lung(8) 9 TGTGAACGACGAGAAAGCCAA 0.577000 7 15 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152127966 152127966 + Missense_Mutation SNP G G T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:152127966G>T ENST00000316073.3 - 3 1673 c.1609C>A c.(1609-1611)Cag>Aag p.Q537K NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 537 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 CTGTCCATCTGACTGTAGTGG 0.532000 251 468 4.53783e-81 4.99313e-81 1 1 0 ANK3 288 broad.mit.edu 37 10 61831191 61831191 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr10:61831191C>G ENST00000280772.2 - 37 9639 c.9448G>C c.(9448-9450)Gat>Cat p.D3150H ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 AGAGTATCATCTTCTGGACTA 0.428000 30 72 0 0 1 0 0 OR8D2 283160 broad.mit.edu 37 11 124189263 124189263 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr11:124189263G>A ENST00000357438.2 - 1 921 c.831C>T c.(829-831)ttC>ttT p.F277F NM_001002918.1 NP_001002918.1 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, member 2 277 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) TTGTGATGTAGAACACAGAAG 0.423000 33 54 0 0 1 0 0 RAPGEF4 11069 broad.mit.edu 37 2 173891911 173891911 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr2:173891911G>A ENST00000264111.6 + 25 2666 c.2479G>A c.(2479-2481)Gtc>Atc p.V827I RAPGEF4_ENST00000539331.1_Missense_Mutation_p.V675I|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.V608I|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.V657I|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.V828I|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.V828I|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.V684I|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.V675I Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 828 Ras-GEF. blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 OV - Ovarian serous cystadenocarcinoma(117;0.194) GTTTTGGGTCGTCACTGAGAT 0.368000 18 37 0 0 1 0 0 ZNF430 80264 broad.mit.edu 37 19 21240308 21240308 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:21240308G>C ENST00000261560.5 + 5 1375 c.1194G>C c.(1192-1194)gaG>gaC p.E398D NM_001172671.1|NM_025189.3 NP_001166142.1|NP_079465.3 Q9H8G1 ZN430_HUMAN zinc finger protein 430 398 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 ATACTGGAGAGAAATTCTACA 0.353000 10 46 0 0 1 0 0 NFATC4 4776 broad.mit.edu 37 14 24843541 24843541 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr14:24843541C>T ENST00000413692.2 + 7 2075 c.1931C>T c.(1930-1932)tCa>tTa p.S644L NFATC4_ENST00000250373.4_Missense_Mutation_p.S581L|NFATC4_ENST00000557451.1_Missense_Mutation_p.S511L|NFATC4_ENST00000554344.1_Missense_Mutation_p.S511L|NFATC4_ENST00000553708.1_Missense_Mutation_p.S581L|NFATC4_ENST00000555393.1_5'UTR|NFATC4_ENST00000556169.1_Missense_Mutation_p.S569L|NFATC4_ENST00000555590.1_Missense_Mutation_p.S594L|NFATC4_ENST00000554050.1_Missense_Mutation_p.S581L|NFATC4_ENST00000554591.1_Missense_Mutation_p.S644L|NFATC4_ENST00000554473.1_Missense_Mutation_p.S116L|NFATC4_ENST00000555453.1_Missense_Mutation_p.S569L|NFATC4_ENST00000422617.3_Missense_Mutation_p.S569L|NFATC4_ENST00000555167.1_Missense_Mutation_p.S116L|NFATC4_ENST00000554966.1_Missense_Mutation_p.S594L|NFATC4_ENST00000424781.2_Missense_Mutation_p.S594L|NFATC4_ENST00000556759.1_Missense_Mutation_p.S116L|NFATC4_ENST00000557767.1_5'UTR|NFATC4_ENST00000553879.1_Missense_Mutation_p.S511L|NFATC4_ENST00000539237.2_Missense_Mutation_p.S613L|NFATC4_ENST00000553469.1_Missense_Mutation_p.S613L|NFATC4_ENST00000554661.1_Missense_Mutation_p.S511L|NFATC4_ENST00000556279.1_Missense_Mutation_p.S613L|NFATC4_ENST00000555802.1_5'UTR NM_001136022.1|NM_001198967.1 NP_001129494.1|NP_001185896.1 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 581 IPT/TIG. cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2) 34 GBM - Glioblastoma multiforme(265;0.018) GCCCAGCGCTCAGCCCAGGAG 0.642000 6 13 0 0 1 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217669 150217669 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr7:150217669G>C ENST00000313543.4 + 2 764 c.607G>C c.(607-609)Gat>Cat p.D203H NM_153236.3 NP_694968.1 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 203 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTACTTTTCTGATGACATATA 0.418000 19 35 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123903125 123903125 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr10:123903125C>T ENST00000369005.1 + 7 6078 c.5738C>T c.(5737-5739)tCg>tTg p.S1913L TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000369001.1_Intron|TACC2_ENST00000493951.1_3'UTR|TACC2_ENST00000369000.1_Intron|TACC2_ENST00000515603.1_Intron|TACC2_ENST00000515273.1_Intron|TACC2_ENST00000453444.2_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.S1913L NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 1913 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CTTCCTCCCTCGGCTGCAGAA 0.562000 OREG0020589 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 40 0 0 1 0 0 MAST4 375449 broad.mit.edu 37 5 66460281 66460281 + Silent SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr5:66460281C>G ENST00000404260.3 + 29 5591 c.5283C>G c.(5281-5283)ctC>ctG p.L1761L MAST4_ENST00000261569.7_Silent_p.L1564L|MAST4_ENST00000403666.1_Silent_p.L1569L|MAST4_ENST00000405643.1_Silent_p.L1579L|MAST4_ENST00000403625.2_Silent_p.L1758L O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 1761 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) TTGTTCCCCTCAAGGCCTTAA 0.607000 15 35 0 0 1 0 0 KCTD19 146212 broad.mit.edu 37 16 67324842 67324842 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr16:67324842G>A ENST00000304372.5 - 15 2668 c.2613C>T c.(2611-2613)atC>atT p.I871I NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 871 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) TGAAGCCGGTGATGGCCAGCA 0.617000 4 10 0 0 1 0 0 MEN1 4221 broad.mit.edu 37 11 64575138 64575138 + Silent SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr11:64575138C>T ENST00000337652.1 - 4 1187 c.684G>A c.(682-684)ctG>ctA p.L228L MEN1_ENST00000377316.2_Silent_p.L223L|MEN1_ENST00000377313.1_Silent_p.L228L|MEN1_ENST00000312049.6_Silent_p.L223L|MEN1_ENST00000315422.4_Silent_p.L223L|MEN1_ENST00000377326.3_Silent_p.L223L|MEN1_ENST00000377321.1_Silent_p.L188L|MEN1_ENST00000394376.1_Silent_p.L228L|MEN1_ENST00000394374.2_Silent_p.L228L|MEN1_ENST00000443283.1_Silent_p.L228L NM_130803.2 NP_570715 O00255 MEN1_HUMAN multiple endocrine neoplasia I 228 Interaction with FANCD2. L -> P (in MEN1). DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2) 337 ATGATCCTTTCAGGTACAGCC 0.552000 """D, Mis, N, F, S""" """parathyroid tumors, Pancreatic neuroendocrine tumors""" """parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid""" Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated 23 22 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40699617 40699617 + Silent SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr12:40699617C>T ENST00000298910.7 + 28 3866 c.3808C>T c.(3808-3810)Ctg>Ttg p.L1270L NM_198578.3 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1270 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TCTTGAAAATCTGACATCTCT 0.403000 20 32 0 0 1 0 0 NLK 51701 broad.mit.edu 37 17 26518092 26518092 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:26518092G>C ENST00000407008.3 + 9 2000 c.1282G>C c.(1282-1284)Gat>Cat p.D428H NM_016231.4 NP_057315.3 Q9UBE8 NLK_HUMAN nemo-like kinase 428 intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1) 14 all_lung(13;0.000343)|Lung NSC(42;0.00184) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) CCCCTACCTAGATGAAGGGCG 0.438000 21 70 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127614405 127614405 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr5:127614405C>G ENST00000508053.1 - 63 8241 c.7267G>C c.(7267-7269)Gag>Cag p.E2423Q FBN2_ENST00000262464.4_Missense_Mutation_p.E2423Q P35556 FBN2_HUMAN fibrillin 2 2423 TB 9. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GGGCAAAGCTCGCACTGGTGG 0.493000 19 46 0 0 1 0 0 ATAD2 29028 broad.mit.edu 37 8 124371477 124371477 + Nonsense_Mutation SNP T T A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr8:124371477T>A ENST00000287394.5 - 11 1473 c.1366A>T c.(1366-1368)Aaa>Taa p.K456* ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 456 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) GGTTGAATTTTAAATTTTTCA 0.323000 25 41 0 0 1 0 0 LOC401127 401127 broad.mit.edu 37 4 39482639 39482639 + RNA SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr4:39482639G>C ENST00000513652.1 + 0 646 ATGGATTCTTGATAGTTTCAA 0.478000 18 29 0 0 1 0 0 PRMT7 54496 broad.mit.edu 37 16 68373809 68373809 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr16:68373809G>C ENST00000339507.5 + 9 1695 c.865G>C c.(865-867)Gag>Cag p.E289Q PRMT7_ENST00000449359.3_Missense_Mutation_p.E239Q|PRMT7_ENST00000348497.4_Missense_Mutation_p.E215Q|PRMT7_ENST00000564441.1_3'UTR|PRMT7_ENST00000441236.1_Missense_Mutation_p.E239Q Q9NVM4 ANM7_HUMAN protein arginine methyltransferase 7 289 cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus [myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1) 20 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629) AATGGACCCTGAGGGGAAGAT 0.572000 17 20 0 0 1 0 0 SPATA17 128153 broad.mit.edu 37 1 217804728 217804728 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:217804728C>G ENST00000366933.4 + 1 63 c.8C>G c.(7-9)aCg>aGg p.T3R NM_138796.2 NP_620151.1 Q96L03 SPT17_HUMAN spermatogenesis associated 17 3 cytoplasm calmodulin binding p.T3M(1) endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) ACCATGGCCACGTTAGCCCGG 0.527000 5 20 0 0 1 0 0 RPL6 6128 broad.mit.edu 37 12 112843711 112843711 + Silent SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr12:112843711C>T ENST00000424576.2 - 6 845 c.660G>A c.(658-660)aaG>aaA p.K220K RPL6_ENST00000202773.9_Silent_p.K220K NM_001024662.1 NP_001019833.1 Q02878 RL6_HUMAN ribosomal protein L6 220 endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit DNA binding|RNA binding|structural constituent of ribosome cervix(1)|large_intestine(6)|lung(3) 10 TCCGCAGCTTCTTCTTCTTGA 0.423000 16 31 0 0 1 0 0 TMEM231 79583 broad.mit.edu 37 16 75579304 75579304 + Nonstop_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr16:75579304C>G ENST00000460606.1 - 1 22 c.23G>C c.(22-24)tGa>tCa p.*8S RP11-77K12.8_ENST00000564489.1_RNA|TMEM231_ENST00000565067.1_Intron|TMEM231_ENST00000568377.1_Silent_p.L205L|TMEM231_ENST00000258173.6_Silent_p.L176L|TMEM231_ENST00000569294.1_5'UTR GCTGCAGCCTCAGGTCTCCGT 0.542000 39 47 0 0 1 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20903757 20903757 + Silent SNP T T C rs10841611 by1000genomes TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr12:20903757T>C ENST00000381552.1 + 14 2315 c.1947T>C c.(1945-1947)caT>caC p.H649H SLCO1C1_ENST00000266509.2_Intron|SLCO1C1_ENST00000540354.1_Intron|SLCO1C1_ENST00000545102.1_Silent_p.H531H|SLCO1C1_ENST00000545604.1_Silent_p.H649H Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 0 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity p.H649H(1) NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) CCGCATCTCATTGCTACAGCA 0.378000 4 47 0 0 1 0 0 SMARCC2 6601 broad.mit.edu 37 12 56563943 56563943 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr12:56563943C>G ENST00000394023.3 - 23 2502 c.2397G>C c.(2395-2397)gaG>gaC p.E799D SMARCC2_ENST00000550164.1_Missense_Mutation_p.E799D|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.E768D|SMARCC2_ENST00000347471.4_Missense_Mutation_p.E799D NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 768 Glu-rich. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) GCTCCTTCTTCTCATCTGTGG 0.537000 11 26 0 0 1 0 0 CUL1 8454 broad.mit.edu 37 7 148481129 148481129 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr7:148481129G>A ENST00000325222.4 + 11 1537 c.1258G>A c.(1258-1260)Gag>Aag p.E420K CUL1_ENST00000409469.1_Missense_Mutation_p.E420K|CUL1_ENST00000602748.1_Missense_Mutation_p.E420K NM_003592.2 NP_003583.2 Q13616 CUL1_HUMAN cullin 1 420 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) TAAATCCCCTGAGTTGCTGGC 0.418000 19 33 0 0 1 0 0 SVIL 6840 broad.mit.edu 37 10 29776225 29776225 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr10:29776225C>G ENST00000375398.2 - 26 4801 c.4352G>C c.(4351-4353)aGa>aCa p.R1451T PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000538146.1_Missense_Mutation_p.R243T|SVIL_ENST00000535393.1_Missense_Mutation_p.R365T|SVIL_ENST00000375400.3_Missense_Mutation_p.R1025T|SVIL_ENST00000355867.4_Missense_Mutation_p.R1451T O95425 SVIL_HUMAN supervillin 1451 Interaction with NEB. cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) CACATGTCTTCTTCCTGAACA 0.582000 9 23 0 0 1 0 0 DPP3 10072 broad.mit.edu 37 11 66259013 66259013 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr11:66259013G>A ENST00000532677.1 + 8 1305 c.904G>A c.(904-906)Gag>Aag p.E302K DPP3_ENST00000541961.1_Missense_Mutation_p.E283K|DPP3_ENST00000530165.1_Missense_Mutation_p.E253K|DPP3_ENST00000453114.1_Missense_Mutation_p.E283K|DPP3_ENST00000360510.2_Missense_Mutation_p.E283K|DPP3_ENST00000531863.1_Missense_Mutation_p.E303K NM_001256670.1|NM_005700.4|NM_130443.3 NP_001243599.1|NP_005691.2|NP_569710.2 Q9NY33 DPP3_HUMAN dipeptidyl-peptidase 3 283 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1) 23 CCAGTATATAGAGAGCTTCAC 0.657000 OREG0021109 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 25 0 0 1 0 0 MIPOL1 145282 broad.mit.edu 37 14 37892073 37892073 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr14:37892073C>G ENST00000327441.7 + 12 1416 c.950C>G c.(949-951)tCt>tGt p.S317C MIPOL1_ENST00000539062.2_Missense_Mutation_p.S286C|MIPOL1_ENST00000556451.1_Missense_Mutation_p.S286C|MIPOL1_ENST00000396294.2_Missense_Mutation_p.S317C|MIPOL1_ENST00000537471.1_Missense_Mutation_p.S317C|MIPOL1_ENST00000545536.1_Missense_Mutation_p.S286C|MIPOL1_ENST00000536774.1_Missense_Mutation_p.S136C NM_001195296.1|NM_001195297.1|NM_138731.6 NP_001182225.1|NP_001182226.1|NP_620059.1 Q8TD10 MIPO1_HUMAN mirror-image polydactyly 1 317 breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196) GBM - Glioblastoma multiforme(112;0.0358) AAGTTGTTATCTATGCAACAA 0.323000 3 12 0 0 1 0 0 PCDHB6 56130 broad.mit.edu 37 5 140530412 140530412 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr5:140530412G>C ENST00000231136.1 + 1 574 c.574G>C c.(574-576)Gag>Cag p.E192Q PCDHB6_ENST00000543635.1_Missense_Mutation_p.E56Q NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 192 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAAGTTCCCGGAGCTGGTGCT 0.617000 43 62 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23884449 23884449 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr14:23884449C>G ENST00000355349.3 - 37 5476 c.5314G>C c.(5314-5316)Gag>Cag p.E1772Q NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1772 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 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) GTGTCCTGCTCCTTCTTCAGC 0.602000 23 71 0 0 1 0 0 TMEM194A 23306 broad.mit.edu 37 12 57472433 57472433 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr12:57472433C>G ENST00000300128.4 - 1 119 c.96G>C c.(94-96)ttG>ttC p.L32F TMEM194A_ENST00000553654.1_Intron|TMEM194A_ENST00000379391.3_Missense_Mutation_p.L32F NM_001130963.1 NP_001124435.1 O14524 T194A_HUMAN transmembrane protein 194A 32 integral to membrane endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 CGGAGAGGATCAAGAGTAGCC 0.657000 15 35 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146805319 146805319 + Missense_Mutation SNP G G T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr7:146805319G>T ENST00000361727.3 + 5 1147 c.631G>T c.(631-633)Gtc>Ttc p.V211F NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 211 behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) ACTGAAAGATGTCATTGCCTT 0.363000 HNSCC(39;0.1) 19 27 2.35188e-11 2.52042e-11 1 1 0 KCNK10 54207 broad.mit.edu 37 14 88693853 88693853 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr14:88693853C>T ENST00000340700.5 - 4 983 c.532G>A c.(532-534)Gaa>Aaa p.E178K KCNK10_ENST00000319231.5_Missense_Mutation_p.E183K|KCNK10_ENST00000312350.5_Missense_Mutation_p.E183K NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 178 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 TTGCCTCCTTCAGTGCTCGGA 0.403000 25 63 0 0 1 0 0 STX11 8676 broad.mit.edu 37 6 144508056 144508056 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr6:144508056G>A ENST00000367568.4 + 2 475 c.292G>A c.(292-294)Gag>Aag p.E98K NM_003764.3 NP_003755.2 O75558 STX11_HUMAN syntaxin 11 98 cellular membrane fusion|intracellular protein transport|vesicle-mediated transport Golgi apparatus|membrane SNAP receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 12 OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492) GGCCCGGGGCGAGGTCATCCA 0.682000 Familial Hemophagocytic Lymphohistiocytosis 13 15 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61830481 61830481 + Silent SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr10:61830481C>T ENST00000280772.2 - 37 10349 c.10158G>A c.(10156-10158)ggG>ggA p.G3386G ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GGTCGTTGTTCCCATTCTGGG 0.468000 36 67 0 0 1 0 0 SDHA 6389 broad.mit.edu 37 5 224526 224526 + Missense_Mutation SNP G G T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr5:224526G>T ENST00000264932.6 + 3 317 c.202G>T c.(202-204)Ggc>Tgc p.G68C SDHA_ENST00000504309.1_Missense_Mutation_p.G68C|SDHA_ENST00000510361.1_Missense_Mutation_p.G68C NM_004168.2 NP_004159.2 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 68 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 40 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) AGTGGTGGTAGGCGCTGGAGG 0.473000 Familial Paragangliomas 50 78 3.86361e-14 4.19514e-14 1 1 0 OR5H2 79310 broad.mit.edu 37 3 98002110 98002110 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr3:98002110C>T ENST00000355273.2 + 1 379 c.379C>T c.(379-381)Cgc>Tgc p.R127C RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005482.1 NP_001005482.1 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, member 2 127 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 GGCATATGATCGCTATGTAGC 0.378000 31 99 0 0 1 0 0 FAM126B 285172 broad.mit.edu 37 2 201873710 201873710 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr2:201873710G>A ENST00000418596.3 - 7 703 c.516C>T c.(514-516)ttC>ttT p.F172F AC005037.3_ENST00000413848.1_RNA NM_173822.3 NP_776183.1 Q8IXS8 F126B_HUMAN family with sequence similarity 126, member B intracellular endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 TCTGTGCAGTGAATGTTTCCC 0.378000 14 29 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3238723 3238723 + Nonsense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chrX:3238723G>C ENST00000217939.6 - 5 5157 c.5003C>G c.(5002-5004)tCa>tGa p.S1668* NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1668 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TGTTGTACTTGATAATCTTGG 0.438000 150 35 0 0 1 0 0 BTLA 151888 broad.mit.edu 37 3 112190070 112190070 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr3:112190070C>G ENST00000334529.5 - 3 738 c.536G>C c.(535-537)aGa>aCa p.R179T BTLA_ENST00000383680.4_Intron NM_181780.3 NP_861445 Q7Z6A9 BTLA_HUMAN B and T lymphocyte associated 179 T cell costimulation receptor activity breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1) 11 Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361) TTGGTGCCTTCTCAGGCAGCA 0.493000 15 47 0 0 1 0 0 OCLN 100506658 broad.mit.edu 37 5 68805528 68805528 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr5:68805528C>G ENST00000355237.2 + 3 1047 c.611C>G c.(610-612)tCt>tGt p.S204C OCLN_ENST00000542132.1_Intron|OCLN_ENST00000538151.1_Intron|OCLN_ENST00000396442.2_Missense_Mutation_p.S204C|OCLN_ENST00000380766.2_Missense_Mutation_p.S204C NM_002538.3 NP_002529.1 Q16625 OCLN_HUMAN occludin 204 MARVEL. cellular component disassembly involved in apoptosis|protein complex assembly integral to membrane|tight junction protein binding|structural molecule activity endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1) 6 Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174) GCTCAGTCTTCTGGATCTCTA 0.403000 64 115 0 0 1 0 0 TMC4 147798 broad.mit.edu 37 19 54666454 54666454 + Missense_Mutation SNP T T A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:54666454T>A ENST00000376591.4 - 10 1603 c.1472A>T c.(1471-1473)gAt>gTt p.D491V TMC4_ENST00000301187.4_Missense_Mutation_p.D485V|TMC4_ENST00000416963.1_Missense_Mutation_p.D73V NM_001145303.1|NM_144686.2 NP_001138775|NP_653287.2 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 491 integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) AGTCAGCAGATCAAAGAGCAG 0.567000 11 9 0 0 1 0 0 LRBA 987 broad.mit.edu 37 4 151773605 151773605 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr4:151773605G>A ENST00000535741.1 - 23 3730 c.3257C>T c.(3256-3258)tCa>tTa p.S1086L LRBA_ENST00000507224.1_Missense_Mutation_p.S1086L|LRBA_ENST00000357115.3_Missense_Mutation_p.S1086L|LRBA_ENST00000510413.1_Missense_Mutation_p.S1086L P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 1086 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) ATCCTCTTCTGAAGGAGAACT 0.383000 13 51 0 0 1 0 0 OR2M7 391196 broad.mit.edu 37 1 248487244 248487244 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:248487244G>A ENST00000317965.2 - 1 655 c.627C>T c.(625-627)ttC>ttT p.F209F NM_001004691.1 NP_001004691.1 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, member 7 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTGCAACAGGGAAAACAAGCA 0.418000 87 201 0 0 1 0 0 TRIM28 10155 broad.mit.edu 37 19 59057194 59057194 + Silent SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:59057194C>T ENST00000253024.5 + 3 806 c.517C>T c.(517-519)Ctg>Ttg p.L173L TRIM28_ENST00000341753.6_Intron NM_005762.2 NP_005753.1 Q13263 TIF1B_HUMAN tripartite motif containing 28 173 RBCC domain. epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent nucleoplasm chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) CTCGGAGCCTCTGTGTGAGAC 0.572000 13 36 0 0 1 0 0 NCOR1 9611 broad.mit.edu 37 17 15960927 15960927 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:15960927G>A ENST00000268712.3 - 40 6550 c.6293C>T c.(6292-6294)tCa>tTa p.S2098L NCOR1_ENST00000395851.1_Missense_Mutation_p.S1995L|NCOR1_ENST00000395857.3_Missense_Mutation_p.S682L NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 2098 ID1 (By similarity).|Interaction with C1D (By similarity). 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) GTAACGGTTTGATGTTTTAGT 0.483000 22 50 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49435962 49435962 + Nonsense_Mutation SNP C C A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr12:49435962C>A ENST00000301067.7 - 28 6018 c.6019G>T c.(6019-6021)Gag>Tag p.E2007* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TCATCCTTCTCCCAGCGCTGA 0.587000 3 11 1 1 1 1 0 LIPE 3991 broad.mit.edu 37 19 42914706 42914706 + Missense_Mutation SNP G G T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:42914706G>T ENST00000244289.4 - 2 1448 c.1172C>A c.(1171-1173)tCc>tAc p.S391Y LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE_ENST00000602000.1_Intron NM_005357.2 NP_005348.2 Q05469 LIPS_HUMAN lipase, hormone-sensitive 391 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) CACATAGCGGGATTTGTGCAG 0.667000 7 22 0.0293803 0.0296507 1 1 0 TTLL6 284076 broad.mit.edu 37 17 46862467 46862467 + Nonsense_Mutation SNP C C A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:46862467C>A ENST00000393382.3 - 13 1999 c.1858G>T c.(1858-1860)Gag>Tag p.E620* TTLL6_ENST00000433608.2_Nonsense_Mutation_p.E313* NM_001130918.1 NP_001124390.1 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 572 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 GTGGGAGCCTCCTGGTTGAGG 0.507000 49 100 2.68985e-26 2.94987e-26 1 1 0 ARHGAP25 9938 broad.mit.edu 37 2 69046289 69046289 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr2:69046289G>C ENST00000295381.3 + 9 1454 c.1035G>C c.(1033-1035)atG>atC p.M345I ARHGAP25_ENST00000409030.3_Missense_Mutation_p.M338I|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.M339I|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.M339I|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.M39I|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.M346I|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.M306I NM_001007231.2 NP_001007232.2 P42331 RHG25_HUMAN Rho GTPase activating protein 25 345 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 TGACTATGATGATCAGAGACC 0.498000 54 95 0 0 1 0 0 USP32 84669 broad.mit.edu 37 17 58288867 58288867 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:58288867C>G ENST00000300896.4 - 20 2382 c.2188G>C c.(2188-2190)Gaa>Caa p.E730Q USP32_ENST00000592339.1_Missense_Mutation_p.E400Q NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 730 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) GCTCCCTTTTCTGTGGGAACT 0.383000 39 126 0 0 1 0 0 MAEL 84944 broad.mit.edu 37 1 166959001 166959001 + Missense_Mutation SNP T T C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:166959001T>C ENST00000367872.4 + 2 404 c.160T>C c.(160-162)Tac>Cac p.Y54H MAEL_ENST00000367870.2_Intron NM_032858.1 NP_116247.1 Q96JY0 MAEL_HUMAN maelstrom spermatogenic transposon silencer 54 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4) 28 AAAGGAGAAATACGCAGAAAT 0.552000 5 8 0 0 1 0 0 NOTCH3 4854 broad.mit.edu 37 19 15281188 15281188 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:15281188G>A ENST00000263388.2 - 27 5143 c.5068C>T c.(5068-5070)Cac>Tac p.H1690Y NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 1690 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CGGCCCTTGTGACCAGAGGCC 0.657000 15 32 0 0 1 0 0 DCDC1 341019 broad.mit.edu 37 11 31327862 31327862 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr11:31327862G>C ENST00000597505.1 - 3 507 c.508C>G c.(508-510)Caa>Gaa p.Q170E DCDC1_ENST00000452803.1_Missense_Mutation_p.Q170E|RP1-296L11.1_ENST00000528872.1_RNA P59894 DCDC1_HUMAN doublecortin domain containing 1 170 Doublecortin. intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) ACTCTTGGTTGAAGTTTGTGT 0.368000 20 25 0 0 1 0 0 SOCS6 9306 broad.mit.edu 37 18 67992983 67992983 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr18:67992983C>T ENST00000397942.3 + 2 1395 c.1079C>T c.(1078-1080)tCa>tTa p.S360L SOCS6_ENST00000582322.1_Missense_Mutation_p.S360L NM_004232.3 NP_004223.2 O14544 SOCS6_HUMAN suppressor of cytokine signaling 6 360 defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth cytoplasm p.S360L(1) NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 22 Esophageal squamous(42;0.129)|Colorectal(73;0.152) GTTTATGACTCAGTGCAAAGT 0.493000 15 37 0 0 1 0 0 DENND5B 160518 broad.mit.edu 37 12 31605240 31605240 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr12:31605240C>G ENST00000389082.5 - 5 1527 c.1263G>C c.(1261-1263)aaG>aaC p.K421N DENND5B_ENST00000306833.6_Missense_Mutation_p.K456N|DENND5B_ENST00000354285.4_Missense_Mutation_p.K443N|DENND5B_ENST00000536562.1_Missense_Mutation_p.K456N NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 421 integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 GAACCATATTCTTCAGTTTGC 0.408000 31 52 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7575714 7575714 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr6:7575714G>C ENST00000379802.3 + 18 2964 c.2623G>C c.(2623-2625)Gac>Cac p.D875H DSP_ENST00000418664.2_Missense_Mutation_p.D875H NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 875 Globular 1. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TAAACAGATCGACTTTAGGTA 0.473000 13 34 0 0 1 0 0 C11orf48 79081 broad.mit.edu 37 11 62430551 62430551 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr11:62430551C>G ENST00000524958.1 - 4 363 c.343G>C c.(343-345)Gaa>Caa p.E115Q C11orf48_ENST00000354588.3_3'UTR|C11orf48_ENST00000431002.2_3'UTR|C11orf48_ENST00000532208.1_3'UTR|RP11-831H9.11_ENST00000528405.1_Intron Q9BQE6 CK048_HUMAN chromosome 11 open reading frame 48 270 endometrium(1)|lung(5)|urinary_tract(1) 7 TCCTTCATTTCTACATCCTGG 0.478000 9 27 0 0 1 0 0 CLGN 1047 broad.mit.edu 37 4 141310427 141310427 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr4:141310427C>T ENST00000325617.5 - 15 2224 c.1784G>A c.(1783-1785)gGa>gAa p.G595E CLGN_ENST00000414773.1_Missense_Mutation_p.G595E|CLGN_ENST00000537281.1_Missense_Mutation_p.G595E NM_004362.2 NP_004353.1 O14967 CLGN_HUMAN calmegin 595 protein folding endoplasmic reticulum membrane|integral to membrane calcium ion binding|unfolded protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1) 25 all_hematologic(180;0.162) CGGCCCATCTCCAGATCCTGT 0.333000 10 50 0 0 1 0 0 LHX4 89884 broad.mit.edu 37 1 180243439 180243439 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:180243439C>G ENST00000263726.2 + 6 1142 c.898C>G c.(898-900)Cag>Gag p.Q300E RP5-1180C10.2_ENST00000415414.1_RNA|RP5-1180C10.2_ENST00000440959.2_RNA NM_033343.3 NP_203129.1 Q969G2 LHX4_HUMAN LIM homeobox 4 300 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1) 16 ACAATCCTATCAGGACTTGAG 0.542000 40 81 0 0 1 0 0 SUPT5H 6829 broad.mit.edu 37 19 39955605 39955605 + Silent SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:39955605C>G ENST00000599117.1 + 12 1159 c.792C>G c.(790-792)ctC>ctG p.L264L SUPT5H_ENST00000598725.1_Silent_p.L264L|SUPT5H_ENST00000432763.2_Silent_p.L264L|SUPT5H_ENST00000359191.6_Silent_p.L260L|SUPT5H_ENST00000402194.2_Silent_p.L260L O00267 SPT5H_HUMAN suppressor of Ty 5 homolog (S. cerevisiae) 264 Interaction with SUPT4H1. cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 51 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CAGACGTGCTCAAAGTGGTGA 0.602000 22 71 0 0 1 0 0 CYP2D7 1564 broad.mit.edu 37 22 42537630 42537630 + RNA SNP C C G rs139038830 by1000genomes TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr22:42537630C>G ENST00000433992.1 - 0 1010 CYP2D7P1_ENST00000358097.4_RNA endometrium(1) 1 GAACAGGTTACCCACCACTAT 0.612000 3 20 0 0 1 0 0 PPP1R14C 81706 broad.mit.edu 37 6 150535916 150535916 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr6:150535916G>A ENST00000361131.4 + 2 460 c.343G>A c.(343-345)Gat>Aat p.D115N NM_030949.2 NP_112211.1 Q8TAE6 PP14C_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 14C 115 regulation of phosphorylation cytoplasm|membrane endometrium(1)|large_intestine(1)|prostate(1) 3 Ovarian(120;0.0284) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;9.14e-12) TGACATTGATGATCTTCTTGA 0.413000 15 53 0 0 1 0 0 ARVCF 421 broad.mit.edu 37 22 19960296 19960296 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr22:19960296C>T ENST00000263207.3 - 16 2896 c.2605G>A c.(2605-2607)Gat>Aat p.D869N ARVCF_ENST00000406522.1_Missense_Mutation_p.D800N|ARVCF_ENST00000406259.1_Missense_Mutation_p.D863N|ARVCF_ENST00000344269.3_Missense_Mutation_p.D806N|ARVCF_ENST00000401994.1_Missense_Mutation_p.D806N NM_001670.2 NP_001661.1 O00192 ARVC_HUMAN armadillo repeat gene deleted in velocardiofacial syndrome 869 cell adhesion|multicellular organismal development protein binding NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2) 13 Colorectal(54;0.0993) GTGCTGTCATCGAAGCCCCCA 0.602000 9 26 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 63908120 63908120 + Splice_Site SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr15:63908120C>G ENST00000443617.2 - 76 14029 c.e76-1 NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 GAGGAATCATCTAGGAACAGA 0.358000 3 4 0 0 1 0 0 ANKRD26 22852 broad.mit.edu 37 10 27332447 27332447 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr10:27332447G>A ENST00000376087.4 - 20 2234 c.2069C>T c.(2068-2070)tCa>tTa p.S690L ANKRD26_ENST00000436985.2_Missense_Mutation_p.S706L|ANKRD26_ENST00000376070.3_Missense_Mutation_p.S247L NM_001256053.1|NM_014915.2 NP_001242982.1|NP_055730.2 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 689 centrosome breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 TGTTTCAGATGACTGAGTTAA 0.373000 11 12 0 0 1 0 0 FCRLB 127943 broad.mit.edu 37 1 161697272 161697272 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:161697272G>A ENST00000367948.2 + 8 1316 c.1101G>A c.(1099-1101)ctG>ctA p.L367L FCRLB_ENST00000367944.3_3'UTR|FCRLB_ENST00000367945.1_Silent_p.*312*|FCRLB_ENST00000367946.3_Silent_p.*319*|FCRLB_ENST00000336830.5_3'UTR|FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000392158.1_Silent_p.L367L Q6BAA4 FCRLB_HUMAN Fc receptor-like B 367 endoplasmic reticulum central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1) 17 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) CTGGAGCCCTGAAACCCGACG 0.682000 16 29 0 0 1 0 0 IMPDH2 3615 broad.mit.edu 37 3 49062587 49062587 + Silent SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr3:49062587C>T ENST00000326739.4 - 10 1161 c.1122G>A c.(1120-1122)gcG>gcA p.A374A NM_000884.2 NP_000875.2 P12268 IMDH2_HUMAN IMP (inosine 5'-monophosphate) dehydrogenase 2 374 GMP biosynthetic process|purine base metabolic process cytosol|nucleus IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157) CCAAGGCTTTCGCAATATGAC 0.577000 30 23 0 0 1 0 0 PLCL1 5334 broad.mit.edu 37 2 198948687 198948687 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr2:198948687C>T ENST00000428675.1 + 2 844 c.446C>T c.(445-447)tCa>tTa p.S149L PLCL1_ENST00000437704.2_Missense_Mutation_p.S51L NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 149 Interaction with PPP1C.|PH. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) TGGGAACCTTCAAAGAAAGAC 0.448000 19 40 0 0 1 0 0 NCOR1 9611 broad.mit.edu 37 17 15961794 15961794 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:15961794G>C ENST00000268712.3 - 38 6258 c.6001C>G c.(6001-6003)Caa>Gaa p.Q2001E NCOR1_ENST00000395851.1_Missense_Mutation_p.Q1898E|NCOR1_ENST00000395857.3_Missense_Mutation_p.Q585E NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 2001 Interaction with C1D (By similarity). 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) CTTTCCGCTTGATTTGCCTTA 0.413000 26 60 0 0 1 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20488793 20488793 + RNA SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr15:20488793C>T ENST00000555186.1 + 0 276 NR_038836.1 AGACCTCTCTCATGAGAACTT 0.413000 8 73 0 0 1 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58549427 58549427 + Nonsense_Mutation SNP G G T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:58549427G>T ENST00000282326.1 + 3 470 c.223G>T c.(223-225)Gag>Tag p.E75* ZSCAN1_ENST00000601162.1_Nonsense_Mutation_p.E75*|ZSCAN1_ENST00000391700.1_Nonsense_Mutation_p.E75* NM_182572.3 NP_872378.3 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 75 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GCGCTCCAAGGAGCAGATGCT 0.706000 5 19 0.00116845 0.00119015 1 1 0 RP11-353N4.5 0 broad.mit.edu 37 1 149649078 149649079 + RNA INS - - A rs140263023 TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:149649078_149649079insA ENST00000608683.1 - 0 533_534 AGAGAGCCTTCAAAACCTCTTA 0.426 10 17 --- --- --- --- ELF3 1999 broad.mit.edu 37 1 201980282 201980282 + Frame_Shift_Del DEL G G - TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:201980282delG ENST00000359651.3 + 1 3210 c.18delG c.(16-18)gagfs p.E6fs ELF3_ENST00000495848.1_3'UTR|ELF3_ENST00000367283.3_Frame_Shift_Del_p.E6fs|ELF3_ENST00000367284.5_Frame_Shift_Del_p.E6fs P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 6 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 CAACCTGTGAGATTAGCAACA 0.567 23 22 --- --- --- --- SDHAP1 255812 broad.mit.edu 37 3 195711343 195711344 + RNA INS - - T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr3:195711343_195711344insT ENST00000427841.1 - 0 585 NR_003264.2 AAAGACTTCTCTGTGAGCTTTG 0.381 6 8 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187539870 187539870 + Frame_Shift_Del DEL C C - TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr4:187539870delC ENST00000441802.2 - 10 8079 c.7870delG c.(7870-7872)gatfs p.D2624fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2624 Cadherin 24. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GAGCCCTCATCGGCATCACTT 0.443 HNSCC(5;0.00058) 11 29 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187549899 187549900 + Frame_Shift_Ins INS - - T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr4:187549899_187549900insT ENST00000441802.2 - 8 4550_4551 c.4341_4342insA c.(4339-4344)atagacfs p.D1448fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1448 Cadherin 12. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TCATTTGTGTCTATTACTTTGA 0.332 HNSCC(5;0.00058) 9 18 --- --- --- --- FOXQ1 94234 broad.mit.edu 37 6 1313536 1313537 + Frame_Shift_Ins INS - - A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr6:1313536_1313537insA ENST00000296839.2 + 1 862_863 c.597_598insA c.(598-600)agcfs p.S200fs NM_033260.3 NP_150285.3 Q9C009 FOXQ1_HUMAN forkhead box Q1 200 DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding lung(1)|urinary_tract(1) 2 Ovarian(93;0.0733) Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18) TCAACCCCAACAGCGAGTACAC 0.718 23 7 --- --- --- --- MLLT4 4301 broad.mit.edu 37 6 168317781 168317782 + Frame_Shift_Ins INS - - T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr6:168317781_168317782insT ENST00000366806.2 + 19 2699_2700 c.2557_2558insT c.(2557-2559)cttfs p.L853fs MLLT4_ENST00000400822.3_Frame_Shift_Ins_p.L852fs|MLLT4_ENST00000344191.4_Frame_Shift_Ins_p.L853fs|MLLT4_ENST00000351017.4_Frame_Shift_Ins_p.L860fs|MLLT4_ENST00000392112.1_Frame_Shift_Ins_p.L837fs|MLLT4_ENST00000447894.2_Frame_Shift_Ins_p.L853fs|MLLT4_ENST00000392108.3_Frame_Shift_Ins_p.L853fs P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 853 Dilute. adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) AACGACTTTGCTTACCATGGAT 0.277 T MLL AL 15 46 --- --- --- --- GPR107 57720 broad.mit.edu 37 9 132869776 132869779 + Splice_Site DEL TCAA TCAA - TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr9:132869776_132869779delTCAA ENST00000372406.1 + 14 1771_1774 c.1264_1267delTCAA c.(1264-1269)tcaatc>tc p.SI422fs GPR107_ENST00000347136.6_Splice_Site_p.SI422fs|GPR107_ENST00000372410.3_Splice_Site_p.SI422fs NM_001136557.1 NP_001130029.1 Q5VW38 GP107_HUMAN G protein-coupled receptor 107 422 integral to membrane endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 11 Ovarian(14;0.000531) TATTTTTAGGTCAATCAGACATTT 0.407 OREG0019542 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 11 --- --- --- --- LCN15 389812 broad.mit.edu 37 9 139658915 139658915 + Frame_Shift_Del DEL A A - TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr9:139658915delA ENST00000316144.5 - 1 50 c.26delT c.(25-27)atcfs p.I9fs LCN15_ENST00000482511.1_5'UTR NM_203347.1 NP_976222.1 Q6UWW0 LCN15_HUMAN lipocalin 15 9 lipid metabolic process extracellular region binding|transporter activity endometrium(1)|lung(1) 2 CAGGGTCAGGATTGCGCCGAG 0.642 7 7 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6707229 6707232 + Frame_Shift_Del DEL GATA GATA - TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr12:6707229_6707232delGATA ENST00000309577.6 - 12 1883_1886 c.1720_1723delTATC c.(1720-1725)tatcagfs p.YQ574fs CHD4_ENST00000357008.2_Frame_Shift_Del_p.YQ574fs|CHD4_ENST00000544040.1_Frame_Shift_Del_p.YQ567fs|CHD4_ENST00000544484.1_Frame_Shift_Del_p.YQ571fs Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 574 Chromo 1. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 TTCTTCCGCTGATAGTTTCGGAAC 0.466 38 98 --- --- --- --- RP11-114H23.1 0 broad.mit.edu 37 12 76082490 76082491 + RNA INS - - T rs141632958 TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr12:76082490_76082491insT ENST00000552856.1 - 0 401 cattctTTTTCTTTTTTTTTTT 0.361 5 3 --- --- --- --- LOC102723640 102723640 broad.mit.edu 37 15 72904451 72904451 + RNA DEL G G - rs80275855 TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr15:72904451delG ENST00000565305.1 - 0 172 aaaaaaaaaagaaCAGCAGCT 0.423 2 4 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102306788 102306790 + RNA DEL GTA GTA - TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr15:102306788_102306790delGTA ENST00000561463.1 + 0 13180 TTAGTCTGTTGTAGTGGTGAGCT 0.507 2 4 --- --- --- --- KRT19 3880 broad.mit.edu 37 17 39680110 39680111 + Frame_Shift_Ins INS - - A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:39680110_39680111insA ENST00000361566.3 - 6 1147_1148 c.1087_1088insT c.(1087-1089)tacfs p.Y363fs NM_002276.4 NP_002267.2 keratin 19 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2) 12 Breast(137;0.00038) GAGCCGCTGGTACTCCTGATTC 0.589 13 61 --- --- --- --- LOC146880 146880 broad.mit.edu 37 17 62757843 62757843 + RNA DEL A A - rs76968253 TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:62757843delA ENST00000400873.3 - 0 1605 NR_026899.1 actccgtctcaaaaaaaaaaa 0.413 3 3 --- --- --- ---