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 MAGED2 10916 broad.mit.edu 37 X 54837315 54837315 + Missense_Mutation SNP C C T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chrX:54837315C>T ENST00000375068.1 + 4 832 c.599C>T c.(598-600)aCa>aTa p.T200I MAGED2_ENST00000375060.1_Missense_Mutation_p.T162I|MAGED2_ENST00000347546.3_Missense_Mutation_p.T144I|MAGED2_ENST00000375053.2_Missense_Mutation_p.T200I|MAGED2_ENST00000375058.1_Missense_Mutation_p.T200I|MAGED2_ENST00000396224.1_Missense_Mutation_p.T200I|MAGED2_ENST00000497484.1_3'UTR|MAGED2_ENST00000375062.4_Missense_Mutation_p.T162I|MAGED2_ENST00000343474.6_Missense_Mutation_p.T182I|MAGED2_ENST00000218439.4_Missense_Mutation_p.T200I Q9UNF1 MAGD2_HUMAN melanoma antigen family D, 2 200 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 TCTGGAACCACAGGTGGCCGA 0.577000 9 29 0 0 0.008291 0 0 FBLN7 129804 broad.mit.edu 37 2 112944812 112944812 + Missense_Mutation SNP C C T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr2:112944812C>T ENST00000331203.2 + 8 1320 c.1049C>T c.(1048-1050)aCg>aTg p.T350M FBLN7_ENST00000409903.1_Intron|FBLN7_ENST00000409667.3_Missense_Mutation_p.T216M|FBLN7_ENST00000409450.3_Missense_Mutation_p.T304M NM_001128165.1|NM_153214.2 NP_001121637.1|NP_694946.2 Q53RD9 FBLN7_HUMAN fibulin 7 350 cell adhesion proteinaceous extracellular matrix calcium ion binding|heparin binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 AACCTGAAGACGCCCATCACG 0.657000 8 162 0 0 0.006214 0 0 CLSTN2 64084 broad.mit.edu 37 3 140167426 140167426 + Missense_Mutation SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr3:140167426C>A ENST00000458420.3 + 6 1043 c.853C>A c.(853-855)Ctg>Atg p.L285M NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 285 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 CAGCATCCACCTGGAGACGTG 0.532000 HNSCC(16;0.037) 46 93 6.61955e-31 1.23735e-30 0.003610 1 0 OR14I1 401994 broad.mit.edu 37 1 248845249 248845249 + Missense_Mutation SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr1:248845249G>T ENST00000342623.3 - 1 380 c.357C>A c.(355-357)gaC>gaA p.D119E NM_001004734.1 NP_001004734.1 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, member 1 119 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 35 CAACATAGCGGTCATAAGACA 0.502000 33 21 8.53417e-09 1.13323e-08 0.002836 1 0 DSCAM 1826 broad.mit.edu 37 21 41710051 41710051 + Missense_Mutation SNP T T C TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr21:41710051T>C ENST00000400454.1 - 8 2237 c.1760A>G c.(1759-1761)cAg>cGg p.Q587R NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 587 Ig-like C2-type 6. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GTGGACGCTCTGGCTGGTGGA 0.507000 22 87 0 0 0.003330 0 0 ZNF43 7594 broad.mit.edu 37 19 21992268 21992268 + Nonsense_Mutation SNP G G A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr19:21992268G>A ENST00000594012.1 - 7 1067 c.553C>T c.(553-555)Caa>Taa p.Q185* ZNF43_ENST00000598381.1_Nonsense_Mutation_p.Q185*|ZNF43_ENST00000595461.1_Nonsense_Mutation_p.Q185*|ZNF43_ENST00000354959.4_Nonsense_Mutation_p.Q191* NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 191 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) ATTTTATGTTGAGCTAGATGT 0.303000 11 14 0 0 0.008291 0 0 ZNF623 9831 broad.mit.edu 37 8 144733134 144733134 + Silent SNP G G A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr8:144733134G>A ENST00000501748.2 + 1 1181 c.1092G>A c.(1090-1092)caG>caA p.Q364Q ZNF623_ENST00000458270.2_Silent_p.Q324Q|ZNF623_ENST00000526926.1_Silent_p.Q324Q NM_014789.3 NP_055604.3 O75123 ZN623_HUMAN zinc finger protein 623 364 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3) 27 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) ACTTCACCCAGCATCAGAGAA 0.458000 16 51 0 0 0.004007 0 0 RYR3 6263 broad.mit.edu 37 15 34064229 34064229 + Silent SNP G G A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr15:34064229G>A ENST00000389232.4 + 63 8995 c.8925G>A c.(8923-8925)aaG>aaA p.K2975K RYR3_ENST00000415757.3_Silent_p.K2975K NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 2975 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.K2975N(1) 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) AACTTGGGAAGTTCACCCATT 0.468000 10 13 0 0 0.006214 0 0 SLC6A7 6534 broad.mit.edu 37 5 149574475 149574475 + Splice_Site SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr5:149574475G>T ENST00000230671.2 + 2 588 c.e2+1 SLC6A7_ENST00000524041.1_Splice_Site NM_014228.3 NP_055043.2 Q99884 SC6A7_HUMAN solute carrier family 6 (neurotransmitter transporter), member 7 integral to plasma membrane|membrane fraction neurotransmitter:sodium symporter activity|proline:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1) 16 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Proline(DB00172) AATGGAGGAGGTATGGGCCTG 0.602000 20 74 4.54149e-19 7.93943e-19 0.002299 1 0 GALNT6 11226 broad.mit.edu 37 12 51759270 51759270 + Missense_Mutation SNP C C G TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr12:51759270C>G ENST00000543196.2 - 4 963 c.758G>C c.(757-759)cGg>cCg p.R253P GALNT6_ENST00000356317.3_Missense_Mutation_p.R253P Q8NCL4 GALT6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) 253 Catalytic subdomain A. protein O-linked glycosylation Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 CCCCAGCAGCCGGGCGGTGAT 0.657000 18 40 0 0 0.006122 0 0 KIFC2 90990 broad.mit.edu 37 8 145694127 145694127 + Silent SNP C C T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr8:145694127C>T ENST00000301332.2 + 10 1400 c.1023C>T c.(1021-1023)gcC>gcT p.A341A KIFC2_ENST00000301331.5_Silent_p.A89A NM_145754.2 NP_665697.1 Q96AC6 KIFC2_HUMAN kinesin family member C2 341 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1) 19 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) CACGGATGGCCAGCCTGCGTC 0.662000 45 141 0 0 0.003610 0 0 ENTHD1 150350 broad.mit.edu 37 22 40139897 40139897 + Missense_Mutation SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr22:40139897G>T ENST00000325157.6 - 7 1861 c.1611C>A c.(1609-1611)gaC>gaA p.D537E NM_152512.3 NP_689725.2 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 537 breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3) 32 Melanoma(58;0.0749) CCTGGGGGAAGTCTTTGGTTG 0.438000 18 21 5.3912e-06 6.45351e-06 0.006122 1 0 BRCC3 79184 broad.mit.edu 37 X 154348318 154348318 + Missense_Mutation SNP C C T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chrX:154348318C>T ENST00000369462.1 + 11 869 c.844C>T c.(844-846)Cct>Tct p.P282S BRCC3_ENST00000330045.7_Missense_Mutation_p.P257S|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000369459.2_Missense_Mutation_p.P213S|BRCC3_ENST00000399042.1_Missense_Mutation_p.P283S|BRCC3_ENST00000340647.4_Missense_Mutation_p.P258S NM_024332.3 NP_077308.1 P46736 BRCC3_HUMAN BRCA1/BRCA2-containing complex, subunit 3 282 double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.P282S(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1) 22 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) AGTCAGCGGGCCTCTCCTACA 0.428000 22 50 0 0 0.001882 0 0 OR52W1 120787 broad.mit.edu 37 11 6220734 6220734 + Missense_Mutation SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr11:6220734C>A ENST00000311352.2 + 1 359 c.281C>A c.(280-282)cCc>cAc p.P94H NM_001005178.1 NP_001005178.1 Q6IF63 O52W1_HUMAN olfactory receptor, family 52, subfamily W, member 1 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6) 11 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGCTTGGGCCCCGATCTGTG 0.562000 13 21 4.36969e-10 6.1025e-10 0.001855 1 0 ZNF827 152485 broad.mit.edu 37 4 146791525 146791525 + Missense_Mutation SNP C C T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr4:146791525C>T ENST00000508784.1 - 5 2080 c.1853G>A c.(1852-1854)aGc>aAc p.S618N ZNF827_ENST00000379448.4_Missense_Mutation_p.S618N|ZNF827_ENST00000513320.1_Missense_Mutation_p.S268N|ZNF827_ENST00000511534.1_5'UTR Q17R98 ZN827_HUMAN zinc finger protein 827 618 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) AGATTCCGGGCTGAACACATA 0.522000 4 82 0 0 0.000602 0 0 DOCK10 55619 broad.mit.edu 37 2 225658144 225658144 + Missense_Mutation SNP G G A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr2:225658144G>A ENST00000409592.3 - 46 5280 c.5167C>T c.(5167-5169)Ctc>Ttc p.L1723F DOCK10_ENST00000258390.7_Missense_Mutation_p.L1729F Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1729 DHR-2. GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TCTGCAATGAGAGCAGCAATA 0.383000 6 62 0 0 0.001984 0 0 PCDH17 27253 broad.mit.edu 37 13 58299398 58299398 + Silent SNP G G T rs141868878 TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr13:58299398G>T ENST00000377918.3 + 4 3476 c.3450G>T c.(3448-3450)cgG>cgT p.R1150R NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 1150 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) AAGACTGCCGGGGAAACGACC 0.443000 57 92 4.17463e-26 7.62733e-26 0.003610 1 0 SATB1 6304 broad.mit.edu 37 3 18457572 18457572 + Missense_Mutation SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr3:18457572C>A ENST00000338745.6 - 4 2176 c.442G>T c.(442-444)Gcc>Tcc p.A148S SATB1_ENST00000454909.2_Missense_Mutation_p.A148S|SATB1_ENST00000417717.2_Missense_Mutation_p.A148S|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000475083.1_5'UTR NM_002971.4 NP_002962.1 Q01826 SATB1_HUMAN SATB homeobox 1 148 PDZ-like dimerization domain. cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 32 GCATCAGGGGCATCTGTCACG 0.408000 19 41 3.32936e-07 4.17028e-07 0.006122 1 0 ARHGEF1 9138 broad.mit.edu 37 19 42392303 42392303 + Missense_Mutation SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr19:42392303G>T ENST00000599846.1 + 3 190 c.65G>T c.(64-66)aGc>aTc p.S22I ARHGEF1_ENST00000347545.4_Missense_Mutation_p.S22I|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.S37I|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.S22I|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.S37I|ARHGEF1_ENST00000596957.1_Intron Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor (GEF) 1 22 cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) GTTCCCGTCAGCATCATCGGG 0.632000 45 138 1.67211e-32 3.19939e-32 0.003610 1 0 NDUFB10 4716 broad.mit.edu 37 16 2011497 2011497 + Splice_Site SNP G G A rs113652159 TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr16:2011497G>A ENST00000543683.2 + 3 351 c.e3-1 NDUFB10_ENST00000268668.6_Splice_Site|NDUFB10_ENST00000569148.1_Splice_Site O96000 NDUBA_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity|protein binding lung(1)|urinary_tract(1) 2 NADH(DB00157) TTCTCCACCAGCAAAGTCGAC 0.488000 5 206 0 0 0.000602 0 0 TSIX 9383 broad.mit.edu 37 X 73042602 73042602 + RNA SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chrX:73042602C>A ENST00000604411.1 + 0 30563 XIST_ENST00000429829.1_lincRNA NR_003255.2 TCATCTTCATCAATACTCGTA 0.333000 14 42 0.000219431 0.000249167 0.002450 1 0 POLR2J4 84820 broad.mit.edu 37 7 44005995 44005995 + RNA SNP C C G TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr7:44005995C>G ENST00000427076.1 - 0 1200 NR_003655.2 TCTTCATGATCTGCCCAGAGG 0.627000 17 27 0 0 0.002780 0 0 WDR41 55255 broad.mit.edu 37 5 76736805 76736805 + Missense_Mutation SNP C C T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr5:76736805C>T ENST00000296679.4 - 9 1090 c.715G>A c.(715-717)Ggc>Agc p.G239S WDR41_ENST00000507029.1_Missense_Mutation_p.G184S|WDR41_ENST00000414719.2_5'UTR NM_018268.2 NP_060738.2 Q9HAD4 WDR41_HUMAN WD repeat domain 41 239 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) ACGTGGGAGCCGGTGACAAAA 0.463000 6 49 0 0 0.001984 0 0 BZRAP1 9256 broad.mit.edu 37 17 56389964 56389964 + Missense_Mutation SNP G G A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr17:56389964G>A ENST00000355701.3 - 17 3088 c.2218C>T c.(2218-2220)Cct>Tct p.P740S BZRAP1_ENST00000343736.4_Missense_Mutation_p.P740S|BZRAP1_ENST00000268893.6_Missense_Mutation_p.P680S NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 740 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTGAGTTCAGGGCCTGAGCTG 0.607000 27 39 0 0 0.008361 0 0 NDUFS1 4719 broad.mit.edu 37 2 207012264 207012264 + Missense_Mutation SNP C C G TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr2:207012264C>G ENST00000233190.5 - 7 808 c.542G>C c.(541-543)cGc>cCc p.R181P NDUFS1_ENST00000449699.1_Missense_Mutation_p.R181P|NDUFS1_ENST00000455934.2_Missense_Mutation_p.R195P|NDUFS1_ENST00000457011.1_Missense_Mutation_p.R65P|NDUFS1_ENST00000432169.1_Missense_Mutation_p.R70P|NDUFS1_ENST00000423725.1_Missense_Mutation_p.R124P|NDUFS1_ENST00000440274.1_Missense_Mutation_p.R145P NM_005006.6 NP_004997.4 P28331 NDUS1_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) 181 apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I 2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 NADH(DB00157) CCTGATGCAGCGAGTACACTG 0.348000 9 21 0 0 0.004482 0 0 APOE 348 broad.mit.edu 37 19 45412386 45412386 + Missense_Mutation SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr19:45412386G>T ENST00000252486.4 + 4 944 c.833G>T c.(832-834)cGc>cTc p.R278L NM_000041.2 NP_000032.1 P02649 APOE_HUMAN apolipoprotein E 278 anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding large_intestine(1)|lung(2)|prostate(1) 4 Lung NSC(12;0.0018)|all_lung(12;0.00481) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174) Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) TTCCAGGCCCGCCTCAAGAGC 0.706000 9 9 3.09899e-07 3.90183e-07 0.004482 1 0 NPAP1 23742 broad.mit.edu 37 15 24923786 24923786 + Silent SNP A A T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr15:24923786A>T ENST00000329468.2 + 1 3246 c.2772A>T c.(2770-2772)ccA>ccT p.P924P NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CCCCAGCACCAGTTATAGGCT 0.478000 33 87 0 0 0.002445 0 0 CASC3 22794 broad.mit.edu 37 17 38318122 38318122 + Silent SNP C C T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr17:38318122C>T ENST00000264645.7 + 4 640 c.414C>T c.(412-414)acC>acT p.T138T NM_007359.4 NP_031385.2 O15234 CASC3_HUMAN cancer susceptibility candidate 3 138 Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC. mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm identical protein binding|RNA binding|ubiquitin protein ligase binding endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2) 16 AGCCTGACACCAAAAGCACTG 0.443000 5 40 0 0 0.000602 0 0 LRP1B 53353 broad.mit.edu 37 2 141625201 141625201 + Missense_Mutation SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr2:141625201G>T ENST00000389484.3 - 27 5508 c.4537C>A c.(4537-4539)Cca>Aca p.P1513T NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1513 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AGGTCAAATGGCTGTGCACTG 0.448000 TSP Lung(27;0.18) 25 86 4.26978e-12 6.25034e-12 0.003330 1 0 SLC9A6 10479 broad.mit.edu 37 X 135095108 135095108 + Splice_Site SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chrX:135095108G>T ENST00000370695.4 + 8 1077 c.1041_splice c.e8-1 p.V348_splice SLC9A6_ENST00000370701.1_Splice_Site_p.V296_splice|SLC9A6_ENST00000370698.3_Splice_Site_p.V316_splice NM_001042537.1 NP_001036002.1 Q92581 SL9A6_HUMAN solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 316 regulation of pH early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane sodium:hydrogen antiporter activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) ACAGTCTTACGTGACAAAGTT 0.423000 56 147 5.19286e-32 9.85832e-32 0.003610 1 0 SNTG1 54212 broad.mit.edu 37 8 51571204 51571204 + Missense_Mutation SNP T T C TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr8:51571204T>C ENST00000522124.1 + 15 1680 c.1019T>C c.(1018-1020)aTt>aCt p.I340T SNTG1_ENST00000276467.5_Missense_Mutation_p.I340T|SNTG1_ENST00000518864.1_Missense_Mutation_p.I340T|SNTG1_ENST00000517473.1_Missense_Mutation_p.I340T NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 340 PH. cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) GTTTATGAGATTATGTGCAAG 0.358000 19 41 0 0 0.003330 0 0 NBAS 51594 broad.mit.edu 37 2 15523386 15523386 + Missense_Mutation SNP T T C rs142327626 TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr2:15523386T>C ENST00000281513.5 - 29 3338 c.3313A>G c.(3313-3315)Atg>Gtg p.M1105V NBAS_ENST00000441750.1_Missense_Mutation_p.M985V NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 1105 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 TTCTGCTGCATAGTTAACATG 0.358000 18 73 0 0 0.001882 0 0 TIAM1 7074 broad.mit.edu 37 21 32624131 32624131 + Silent SNP C C T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr21:32624131C>T ENST00000286827.3 - 6 1809 c.1338G>A c.(1336-1338)ctG>ctA p.L446L TIAM1_ENST00000541036.1_Silent_p.L446L|TIAM1_ENST00000469412.1_5'UTR NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 446 PH 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 TCTTGTGCACCAGGAAGTTCT 0.652000 27 109 0 0 0.002445 0 0 LAMP2 3920 broad.mit.edu 37 X 119573053 119573053 + Missense_Mutation SNP C C T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chrX:119573053C>T ENST00000371335.4 - 9 1325 c.1189G>A c.(1189-1191)Gta>Ata p.V397I LAMP2_ENST00000540603.1_Missense_Mutation_p.V350I|LAMP2_ENST00000434600.2_Intron|LAMP2_ENST00000200639.4_Intron|LAMP2_ENST00000538785.1_Intron NM_013995.2 NP_054701.1 P13473 LAMP2_HUMAN lysosomal-associated membrane protein 2 397 platelet activation|platelet degranulation endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane p.V397I(1) endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2) 15 CTGCCAATTACGTAAGCAATC 0.383000 11 110 0 0 0.008291 0 0 IGHV1-69 28461 broad.mit.edu 37 14 107170173 107170173 + RNA SNP C C A rs150196675 by1000genomes TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr14:107170173C>A ENST00000390633.2 - 0 169 GAGACCTTCACCGAGGACCCA 0.582000 42 76 5.44703e-19 9.38743e-19 0.002222 1 0 PHKA1 5255 broad.mit.edu 37 X 71838660 71838660 + Nonsense_Mutation SNP G G A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chrX:71838660G>A ENST00000373545.3 - 20 2530 c.2092C>T c.(2092-2094)Cag>Tag p.Q698* PHKA1_ENST00000373539.3_Nonsense_Mutation_p.Q757*|PHKA1_ENST00000339490.3_Nonsense_Mutation_p.Q757*|PHKA1_ENST00000541944.1_Nonsense_Mutation_p.Q698*|PHKA1_ENST00000373542.4_Nonsense_Mutation_p.Q757* P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) 757 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) TCCCCAGACTGGTCTCTAGGA 0.388000 27 79 0 0 0.006320 0 0 HEXA 3073 broad.mit.edu 37 15 72637811 72637811 + Missense_Mutation SNP G G A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr15:72637811G>A ENST00000268097.5 - 13 2005 c.1502C>T c.(1501-1503)tCa>tTa p.S501L HEXA_ENST00000567159.1_Missense_Mutation_p.S501L|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000566304.1_Missense_Mutation_p.S512L|HEXA_ENST00000457859.2_3'UTR|RP11-106M3.3_ENST00000570175.1_RNA NM_000520.4 NP_000511.2 P06865 HEXA_HUMAN hexosaminidase A (alpha polypeptide) 501 cell death lysosome beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 24 GCGGAAGTGTGACAAACGTTC 0.562000 23 45 0 0 0.002780 0 0 DDX60L 91351 broad.mit.edu 37 4 169377304 169377304 + Splice_Site SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr4:169377304C>A ENST00000511577.1 - 7 971 c.e7-1 DDX60L_ENST00000505890.1_Splice_Site|DDX60L_ENST00000260184.7_Splice_Site Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) TCTGATACGCCTATCAAAAAA 0.348000 5 9 0.000602214 0.000674369 0.000602 1 0 ZNF383 163087 broad.mit.edu 37 19 37733742 37733742 + Nonsense_Mutation SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr19:37733742G>T ENST00000589413.1 + 8 1187 c.604G>T c.(604-606)Gag>Tag p.E202* ZNF383_ENST00000590503.1_Nonsense_Mutation_p.E202*|ZNF383_ENST00000352998.3_Nonsense_Mutation_p.E202* Q8NA42 ZN383_HUMAN zinc finger protein 383 202 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1) 15 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGAATGTAAAGAGTGTGGGAA 0.358000 33 35 4.15321e-07 5.17554e-07 0.001786 1 0 LPHN3 23284 broad.mit.edu 37 4 62849295 62849295 + Missense_Mutation SNP C C G TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr4:62849295C>G ENST00000512091.1 + 18 3753 c.3006C>G c.(3004-3006)gaC>gaG p.D1002E LPHN3_ENST00000506720.1_Missense_Mutation_p.D1070E|LPHN3_ENST00000504896.1_Missense_Mutation_p.D1002E|LPHN3_ENST00000508946.1_Missense_Mutation_p.D1002E|LPHN3_ENST00000508693.1_Missense_Mutation_p.D1070E|LPHN3_ENST00000507625.1_Missense_Mutation_p.D1070E|LPHN3_ENST00000545650.1_Missense_Mutation_p.D1002E|LPHN3_ENST00000514157.1_Missense_Mutation_p.D1002E|LPHN3_ENST00000509896.1_Missense_Mutation_p.D1070E|LPHN3_ENST00000507164.1_Missense_Mutation_p.D1070E|LPHN3_ENST00000506700.1_Missense_Mutation_p.D1002E|LPHN3_ENST00000511324.1_Missense_Mutation_p.D1070E|LPHN3_ENST00000514591.1_Missense_Mutation_p.D1002E|LPHN3_ENST00000506746.1_Missense_Mutation_p.D1070E|LPHN3_ENST00000514996.1_Missense_Mutation_p.D1002E Q9HAR2 LPHN3_HUMAN latrophilin 3 989 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 CTGCAGTAGACTACAGGAGTT 0.393000 39 91 0 0 0.007835 0 0 PPIP5K2 23262 broad.mit.edu 37 5 102465308 102465308 + Silent SNP C C T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr5:102465308C>T ENST00000321521.9 + 2 588 c.15C>T c.(13-15)ccC>ccT p.P5P PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Silent_p.P5P|PPIP5K2_ENST00000414217.1_Silent_p.P5P O43314 VIP2_HUMAN diphosphoinositol pentakisphosphate kinase 2 5 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 GTGAAGCCCCCAGATTCTTCG 0.343000 8 7 0 0 0.003080 0 0 LSG1 55341 broad.mit.edu 37 3 194390774 194390774 + Missense_Mutation SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr3:194390774C>A ENST00000265245.5 - 2 504 c.190G>T c.(190-192)Gct>Tct p.A64S NM_018385.2 NP_060855.2 Q9H089 LSG1_HUMAN large 60S subunit nuclear export GTPase 1 64 nuclear export|protein transport Cajal body|endoplasmic reticulum GTP binding|hydrolase activity breast(2)|endometrium(3)|large_intestine(2)|lung(9) 16 all_cancers(143;1.68e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;7.55e-06) TCTGCAGTAGCAAGGAAGTCA 0.438000 23 60 1.28384e-07 1.63337e-07 0.001882 1 0 LRP1B 53353 broad.mit.edu 37 2 141081510 141081510 + Missense_Mutation SNP C C G TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr2:141081510C>G ENST00000389484.3 - 81 13437 c.12466G>C c.(12466-12468)Gat>Cat p.D4156H NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4156 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTTGTTTTATCAATATTTAAA 0.269000 TSP Lung(27;0.18) 16 64 0 0 0.004007 0 0 MAGED1 9500 broad.mit.edu 37 X 51638238 51638238 + Silent SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chrX:51638238C>A ENST00000375695.2 + 4 456 c.303C>A c.(301-303)gcC>gcA p.A101A MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375722.1_Silent_p.A45A|MAGED1_ENST00000375772.3_Silent_p.A45A|MAGED1_ENST00000326587.7_Silent_p.A45A NM_001005333.1 NP_001005333.1 Q9Y5V3 MAGD1_HUMAN melanoma antigen family D, 1 45 apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 32 Ovarian(276;0.236) CTAACCAGGCCACCGCAGCTG 0.562000 Multiple Myeloma(10;0.10) 12 40 0.000151284 0.000172592 0.001855 1 0 TGS1 96764 broad.mit.edu 37 8 56699163 56699163 + Nonsense_Mutation SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr8:56699163G>T ENST00000260129.5 + 4 1183 c.706G>T c.(706-708)Gaa>Taa p.E236* NM_024831.6 NP_079107.6 Q96RS0 TGS1_HUMAN trimethylguanosine synthase 1 236 cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent Cajal body|cytosol RNA trimethylguanosine synthase activity breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147) Epithelial(17;0.00027)|all cancers(17;0.00251) TACAAAGGAAGAATGGGAGCA 0.408000 29 91 2.47511e-08 3.25109e-08 0.008361 1 0 ITGB1BP2 26548 broad.mit.edu 37 X 70524814 70524814 + Splice_Site SNP G G C TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chrX:70524814G>C ENST00000538820.1 + 10 1102 c.e10-1 ITGB1BP2_ENST00000373829.3_Splice_Site Q9UKP3 ITBP2_HUMAN integrin beta 1 binding protein (melusin) 2 muscle organ development|signal transduction SH3 domain binding breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1) 14 Renal(35;0.156) CTCCTCCTCAGGTCATAAACG 0.498000 17 39 0 0 0.004990 0 0 SORCS1 114815 broad.mit.edu 37 10 108337311 108337311 + Nonsense_Mutation SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr10:108337311C>A ENST00000369698.1 - 19 2266 c.2140G>T c.(2140-2142)Gag>Tag p.E714* SORCS1_ENST00000263054.6_Missense_Mutation_p.R1125I|SORCS1_ENST00000344440.6_Intron Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 0 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TAAAGCTACTCTCCTAAGAGA 0.488000 20 74 3.99206e-14 6.25852e-14 0.007413 1 0 POMGNT1 55624 broad.mit.edu 37 1 46654920 46654920 + Missense_Mutation SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr1:46654920C>A ENST00000371992.1 - 22 2629 c.1979G>T c.(1978-1980)gGg>gTg p.G660V POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371984.3_3'UTR|POMGNT1_ENST00000371986.3_Missense_Mutation_p.G660V|POMGNT1_ENST00000535522.1_3'UTR NM_001243766.1 NP_001230695.1 Q8WZA1 PMGT1_HUMAN protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 652 protein N-linked glycosylation|protein O-linked glycosylation Golgi membrane|integral to membrane|microsome alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(166;0.155) GTACCCAGCCCCGCAGGGTCC 0.597000 26 45 1.42536e-11 2.06168e-11 0.004656 1 0 ABCA13 154664 broad.mit.edu 37 7 48619942 48619942 + Missense_Mutation SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr7:48619942G>T ENST00000435803.1 + 56 14501 c.14477G>T c.(14476-14478)cGc>cTc p.R4826L ABCA13_ENST00000544596.1_Missense_Mutation_p.R556L NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 4826 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TGTAGCTTACGCGGGATTCCA 0.547000 5 14 0.000602214 0.000674369 0.000602 1 0 C7 730 broad.mit.edu 37 5 40955608 40955608 + Missense_Mutation SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr5:40955608G>T ENST00000313164.9 + 10 1572 c.1213G>T c.(1213-1215)Gcc>Tcc p.A405S NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 405 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) GCGATATTCTGCCTGGGCAGA 0.448000 77 83 2.43199e-30 4.51125e-30 0.003610 1 0 JMJD1C 221037 broad.mit.edu 37 10 64974626 64974626 + Nonsense_Mutation SNP C C T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr10:64974626C>T ENST00000399262.2 - 8 1519 c.1301G>A c.(1300-1302)tGg>tAg p.W434* JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.W252*|JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.W215*|JMJD1C_ENST00000399251.1_Nonsense_Mutation_p.W215* NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 434 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) TATTTGATCCCAGGGAGGCTG 0.368000 16 58 0 0 0.003163 0 0 MARCH7 64844 broad.mit.edu 37 2 160604822 160604822 + Missense_Mutation SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr2:160604822G>T ENST00000259050.3 + 5 1143 c.1021G>T c.(1021-1023)Gca>Tca p.A341S MARCH7_ENST00000409591.1_Missense_Mutation_p.A303S|MARCH7_ENST00000409175.1_Missense_Mutation_p.A341S|MARCH7_ENST00000539065.1_Missense_Mutation_p.A285S NM_022826.2 NP_073737.1 Q9H992 MARH7_HUMAN membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase 341 Ser-rich. ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2) 18 CGATAATAGGGCATCTGAAGC 0.398000 12 51 4.3838e-07 5.42791e-07 0.001855 1 0 HCFC1 3054 broad.mit.edu 37 X 153229610 153229610 + Silent SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chrX:153229610G>T ENST00000310441.7 - 3 1434 c.468C>A c.(466-468)gcC>gcA p.A156A HCFC1_ENST00000369984.4_Silent_p.A156A|HCFC1_ENST00000354233.3_Silent_p.A156A NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 156 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGCTATCATTGGCCAGACCCC 0.572000 40 86 3.61848e-18 6.06407e-18 0.007835 1 0 SLC8A3 6547 broad.mit.edu 37 14 70634693 70634693 + Silent SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr14:70634693G>T ENST00000381269.2 - 2 1200 c.447C>A c.(445-447)ctC>ctA p.L149L SLC8A3_ENST00000528359.1_Silent_p.L149L|SLC8A3_ENST00000356921.2_Silent_p.L149L|SLC8A3_ENST00000357887.3_Silent_p.L149L|SLC8A3_ENST00000534137.1_Silent_p.L149L NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 149 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) TTAAAGAGAGGAGTATCTCAG 0.488000 19 43 1.40151e-16 2.27045e-16 0.001523 1 0 MBNL3 55796 broad.mit.edu 37 X 131524889 131524889 + Missense_Mutation SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chrX:131524889C>A ENST00000538204.1 - 4 672 c.607G>T c.(607-609)Gct>Tct p.A203S RP5-842K24.2_ENST00000441399.1_RNA|MBNL3_ENST00000370844.1_Missense_Mutation_p.A157S|MBNL3_ENST00000370849.3_Missense_Mutation_p.A203S|RP5-842K24.2_ENST00000421483.1_RNA|MBNL3_ENST00000473364.1_5'UTR|MBNL3_ENST00000370839.3_Missense_Mutation_p.A253S|MBNL3_ENST00000394311.2_Missense_Mutation_p.A157S|MBNL3_ENST00000370857.3_Missense_Mutation_p.A253S|MBNL3_ENST00000370853.3_Missense_Mutation_p.A253S NM_001170702.1 NP_001164173.1 Q9NUK0 MBNL3_HUMAN muscleblind-like splicing regulator 3 253 mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing Golgi apparatus|nucleus nucleic acid binding|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2) 16 Acute lymphoblastic leukemia(192;0.000127) GCAGAGGCAGCTGAATGGTTC 0.458000 38 74 4.0492e-12 6.0738e-12 0.006999 1 0 CNTNAP5 129684 broad.mit.edu 37 2 125285017 125285017 + Missense_Mutation SNP T T C TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr2:125285017T>C ENST00000431078.1 + 10 1994 c.1630T>C c.(1630-1632)Tgt>Cgt p.C544R NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 544 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) CATTGATCTGTGTAGCATCAA 0.408000 32 86 0 0 0.001786 0 0 OSBPL1A 114876 broad.mit.edu 37 18 21897289 21897289 + Splice_Site SNP A A T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr18:21897289A>T ENST00000319481.3 - 10 1013 c.e10+1 NM_080597.3 NP_542164.2 Q9BXW6 OSBL1_HUMAN oxysterol binding protein-like 1A cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) CATAATACTTACTGTTTCCTA 0.299000 28 80 0 0 0.006320 0 0 UBR2 23304 broad.mit.edu 37 6 42541664 42541664 + Missense_Mutation SNP C C G TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr6:42541664C>G ENST00000372899.1 + 2 529 c.271C>G c.(271-273)Caa>Gaa p.Q91E UBR2_ENST00000372903.2_Missense_Mutation_p.Q91E|UBR2_ENST00000372901.1_Missense_Mutation_p.Q91E NM_015255.2 NP_056070.1 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 91 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) AAAACTTGAGCAAGCAAACAA 0.398000 26 65 0 0 0.005443 0 0 DOCK10 55619 broad.mit.edu 37 2 225659622 225659622 + Missense_Mutation SNP G G A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr2:225659622G>A ENST00000409592.3 - 45 5223 c.5110C>T c.(5110-5112)Cat>Tat p.H1704Y DOCK10_ENST00000258390.7_Missense_Mutation_p.H1710Y Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1710 DHR-2. GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TTTCTGGCATGAATCTTGGCC 0.473000 15 112 0 0 0.003163 0 0 NPY2R 4887 broad.mit.edu 37 4 156136042 156136042 + Silent SNP C C T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr4:156136042C>T ENST00000329476.3 + 2 1440 c.951C>T c.(949-951)tcC>tcT p.S317S NPY2R_ENST00000506608.1_Silent_p.S317S NM_000910.2 NP_000901.1 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 317 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) CCATGTGCTCCACTTTTGCCA 0.522000 24 54 0 0 0.004656 0 0 HIST1H1B 3009 broad.mit.edu 37 6 27834657 27834657 + Missense_Mutation SNP C C G TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr6:27834657C>G ENST00000331442.3 - 1 702 c.651G>C c.(649-651)aaG>aaC p.K217N NM_005322.2 NP_005313.1 P16401 H15_HUMAN histone cluster 1, H1b 217 Missing (in Ref. 5; AA sequence). nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2) 24 CCTTCTTGGCCTTTGCAGCTT 0.527000 17 24 0 0 0.004990 0 0 SEPT6 23157 broad.mit.edu 37 X 118763453 118763453 + Missense_Mutation SNP G G T rs150468538 TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chrX:118763453G>T ENST00000394610.1 - 9 1372 c.1108C>A c.(1108-1110)Cgt>Agt p.R370S SEPT6_ENST00000360156.7_Missense_Mutation_p.R370S|SEPT6_ENST00000394617.2_Missense_Mutation_p.R400S|SEPT6_ENST00000354228.4_Missense_Mutation_p.R370S|SEPT6_ENST00000489216.1_Missense_Mutation_p.R370S|SEPT6_ENST00000467310.1_5'UTR|SEPT6_ENST00000354416.3_Missense_Mutation_p.R370S|SEPT6_ENST00000394616.4_Missense_Mutation_p.R312S|SEPT6_ENST00000343984.5_Missense_Mutation_p.R370S NM_145799.3 NP_665798.1 Q14141 SEPT6_HUMAN septin 6 370 cell cycle|cytokinesis|interspecies interaction between organisms cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle GTP binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3) 17 TTCTTCAGACGGTCAAACTTC 0.542000 T MLL AML 19 61 1.00905e-13 1.56177e-13 0.008871 1 0 SPTA1 6708 broad.mit.edu 37 1 158623215 158623215 + Splice_Site SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr1:158623215C>A ENST00000368148.3 - 22 3217 c.3036_splice c.e22-1 p.D1013_splice SPTA1_ENST00000368147.3_Splice_Site_p.D1013_splice NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1013 SH3. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TTCCACCAGTCCTGAAGGGAG 0.532000 46 16 1.48646e-12 2.27176e-12 0.002522 1 0 CLPTM1L 81037 broad.mit.edu 37 5 1323018 1323018 + Missense_Mutation SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr5:1323018G>T ENST00000320895.5 - 13 1546 c.1289C>A c.(1288-1290)tCc>tAc p.S430Y CLPTM1L_ENST00000507807.1_Missense_Mutation_p.S261Y|CLPTM1L_ENST00000506641.1_5'UTR|CLPTM1L_ENST00000320927.6_Missense_Mutation_p.S394Y NM_030782.3 NP_110409.2 Q96KA5 CLP1L_HUMAN CLPTM1-like 430 apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09) Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181) KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208) GATTAACCAGGAGTACCAGCT 0.373000 82 85 9.72016e-57 1.92032e-56 0.003610 1 0 CTNNA2 1496 broad.mit.edu 37 2 80101282 80101282 + Silent SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr2:80101282G>T ENST00000466387.1 + 10 1390 c.666G>T c.(664-666)acG>acT p.T222T CTNNA2_ENST00000496558.1_Silent_p.T222T|CTNNA2_ENST00000402739.4_Silent_p.T222T|CTNNA2_ENST00000361291.4_Silent_p.T256T|CTNNA2_ENST00000541047.1_Silent_p.T222T|CTNNA2_ENST00000540488.1_Silent_p.T222T P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 222 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 TGCTGTACACGGCCTCTCAAG 0.557000 10 43 7.48243e-07 9.09115e-07 0.006214 1 0 PCNXL2 80003 broad.mit.edu 37 1 233136268 233136268 + Missense_Mutation SNP C C T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr1:233136268C>T ENST00000258229.8 - 30 5345 c.5111G>A c.(5110-5112)tGc>tAc p.C1704Y PCNXL2_ENST00000344698.2_Missense_Mutation_p.C356Y NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1704 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) CTCGTCAGGGCAAGTGAACTG 0.617000 8 17 0 0 0.003080 0 0 KLHDC7B 113730 broad.mit.edu 37 22 50987893 50987893 + Missense_Mutation SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr22:50987893C>A ENST00000395676.2 + 1 1432 c.1298C>A c.(1297-1299)cCa>cAa p.P433Q NM_138433.3 NP_612442.2 Q96G42 KLD7B_HUMAN kelch domain containing 7B 433 central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 14 all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CCACGCGCGCCACTCCCCGCA 0.672000 47 71 4.00472e-15 6.36044e-15 0.003610 1 0 SLC9A4 389015 broad.mit.edu 37 2 103141571 103141571 + Missense_Mutation SNP G G A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr2:103141571G>A ENST00000295269.4 + 10 2364 c.1907G>A c.(1906-1908)aGg>aAg p.R636K NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 636 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 AACACCTTAAGGGAGAGCATG 0.517000 43 127 0 0 0.008740 0 0 OR2A12 346525 broad.mit.edu 37 7 143792935 143792935 + Nonsense_Mutation SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr7:143792935C>A ENST00000408949.2 + 1 795 c.735C>A c.(733-735)tgC>tgA p.C245* NM_001004135.1 NP_001004135.1 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, member 12 245 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) CCCACCTCTGCGTGGTGGGGC 0.562000 61 91 5.86059e-21 1.04715e-20 0.003610 1 0 KIF15 56992 broad.mit.edu 37 3 44815917 44815917 + Missense_Mutation SNP C C T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr3:44815917C>T ENST00000326047.4 + 2 199 c.50C>T c.(49-51)tCt>tTt p.S17F NM_020242.2 NP_064627.1 Q9NS87 KIF15_HUMAN kinesin family member 15 17 blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) AATGGTCAGTCTAACCAACCA 0.323000 12 7 0 0 0.001855 0 0 CDH9 1007 broad.mit.edu 37 5 26988295 26988295 + Missense_Mutation SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr5:26988295C>A ENST00000231021.4 - 2 318 c.146G>T c.(145-147)cGt>cTt p.R49L NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 49 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 CTTGGTGCGACGTAGCATTTT 0.393000 15 45 2.32078e-09 3.18616e-09 0.003163 1 0 CDHR2 54825 broad.mit.edu 37 5 176012970 176012970 + Missense_Mutation SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr5:176012970C>A ENST00000510636.1 + 20 3024 c.2750C>A c.(2749-2751)aCc>aAc p.T917N CDHR2_ENST00000261944.5_Missense_Mutation_p.T917N|CDHR2_ENST00000506348.1_Missense_Mutation_p.T917N NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 917 Cadherin 8. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 CTCCTCATTACCATTGAGGAC 0.522000 18 74 1.50039e-11 2.15737e-11 0.001882 1 0 LRP1B 53353 broad.mit.edu 37 2 141253245 141253245 + Missense_Mutation SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr2:141253245C>A ENST00000389484.3 - 56 9894 c.8923G>T c.(8923-8925)Ggc>Tgc p.G2975C NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2975 EGF-like 7. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CAGGGAAAGCCTGAAGAGCAT 0.433000 TSP Lung(27;0.18) 14 49 1.49906e-05 1.75977e-05 0.002450 1 0 ZNF674 641339 broad.mit.edu 37 X 46359636 46359636 + Missense_Mutation SNP T T A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chrX:46359636T>A ENST00000523374.1 - 6 1598 c.1388A>T c.(1387-1389)cAt>cTt p.H463L ZNF674_ENST00000414387.2_Missense_Mutation_p.H457L NM_001039891.2|NM_001146291.1|NM_001190417.1 NP_001034980.1|NP_001139763.1|NP_001177346.1 Q2M3X9 ZN674_HUMAN zinc finger protein 674 463 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2) 2 CTCTCCTGTATGCATTCTCTG 0.423000 7 73 0 0 0.004482 0 0 MSLNL 401827 broad.mit.edu 37 16 830154 830154 + Nonsense_Mutation SNP G G A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr16:830154G>A ENST00000293892.3 - 3 846 c.847C>T c.(847-849)Cag>Tag p.Q283* MSLNL_ENST00000442466.1_Nonsense_Mutation_p.Q16* Q96KJ4 MSLNL_HUMAN mesothelin-like 16 cell adhesion integral to membrane breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 CCTGAGCTCTGCAGGGCACCT 0.697000 4 15 0 0 0.000248 0 0 ABCB5 340273 broad.mit.edu 37 7 20668317 20668317 + Missense_Mutation SNP T T C TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr7:20668317T>C ENST00000404938.2 + 4 767 c.115T>C c.(115-117)Ttt>Ctt p.F39L NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 692 ABC transporter 1. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 TCAGTTCCGCTTTGCTGATGG 0.473000 15 15 0 0 0.002450 0 0 PEG3 5178 broad.mit.edu 37 19 57328601 57328601 + Silent SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr19:57328601C>A ENST00000326441.9 - 10 1572 c.1209G>T c.(1207-1209)tcG>tcT p.S403S ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Silent_p.S277S|PEG3_ENST00000598410.1_Silent_p.S279S|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.S403S|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 403 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S403S(2) NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GATCGTGAATCGAGCCCTTCC 0.478000 32 65 4.74835e-14 7.39647e-14 0.002096 1 0 ZNF711 7552 broad.mit.edu 37 X 84526494 84526494 + Missense_Mutation SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chrX:84526494G>T ENST00000360700.4 + 10 2970 c.2084G>T c.(2083-2085)tGc>tTc p.C695F ZNF711_ENST00000395402.1_Missense_Mutation_p.C657F|ZNF711_ENST00000542798.1_Missense_Mutation_p.C491F|ZNF711_ENST00000276123.3_Missense_Mutation_p.C649F|ZNF711_ENST00000373165.3_Missense_Mutation_p.C649F Q9Y462 ZN711_HUMAN zinc finger protein 711 649 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 ATTCATCAGTGCAGGCACTGT 0.388000 12 34 0.00136819 0.0015251 0.001368 1 0 L1CAM 3897 broad.mit.edu 37 X 153128982 153128982 + Missense_Mutation SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chrX:153128982C>A ENST00000370060.1 - 27 3669 c.3480G>T c.(3478-3480)caG>caT p.Q1160H L1CAM_ENST00000370057.3_Missense_Mutation_p.Q1160H|L1CAM_ENST00000361981.3_Missense_Mutation_p.Q1155H|L1CAM_ENST00000538883.1_Missense_Mutation_p.Q1162H|L1CAM_ENST00000361699.4_Missense_Mutation_p.Q1160H|L1CAM_ENST00000543994.1_Missense_Mutation_p.Q1162H|L1CAM_ENST00000370055.1_Missense_Mutation_p.Q1155H NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 1160 axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CAGAGTCCACCTGGGTGTCCT 0.652000 13 28 7.93312e-07 9.59079e-07 0.002450 1 0 ARHGAP33 115703 broad.mit.edu 37 19 36278085 36278085 + Missense_Mutation SNP C C T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr19:36278085C>T ENST00000007510.4 + 21 2762 c.2618C>T c.(2617-2619)tCa>tTa p.S873L ARHGAP33_ENST00000314737.5_Missense_Mutation_p.S712L|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.S737L O14559 RHG33_HUMAN Rho GTPase activating protein 33 873 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 GATATGGAGTCACCACTGCCA 0.657000 9 72 0 0 0.004482 0 0 MTMR4 9110 broad.mit.edu 37 17 56573570 56573570 + Nonsense_Mutation SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr17:56573570C>A ENST00000323456.5 - 16 2057 c.1933G>T c.(1933-1935)Gag>Tag p.E645* MTMR4_ENST00000579925.1_Nonsense_Mutation_p.E588* NM_004687.4 NP_004678.3 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 645 cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) TGCCAGGGCTCCAGGCCTACC 0.557000 23 30 4.4004e-07 5.42791e-07 0.003330 1 0 CUZD1 50624 broad.mit.edu 37 10 124596450 124596450 + Silent SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr10:124596450C>A ENST00000368904.1 - 7 1663 c.714G>T c.(712-714)tcG>tcT p.S238S CUZD1_ENST00000545804.1_Silent_p.S238S|CUZD1_ENST00000392790.1_Silent_p.S238S Q86UP6 CUZD1_HUMAN CUB and zona pellucida-like domains 1 238 CUB 2. cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation integral to membrane|transport vesicle membrane|zymogen granule membrane NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1) 39 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141) AGTTTGATGACGATTCGAAGG 0.453000 20 57 0.00887093 0.00979835 0.008871 1 0 WDR25 79446 broad.mit.edu 37 14 100934431 100934431 + Missense_Mutation SNP G G T rs146541699 byFrequency TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr14:100934431G>T ENST00000335290.6 + 3 1122 c.896G>T c.(895-897)cGg>cTg p.R299L WDR25_ENST00000402312.3_Missense_Mutation_p.R299L|WDR25_ENST00000554998.1_Missense_Mutation_p.R299L|WDR25_ENST00000542471.2_Missense_Mutation_p.R42L NM_024515.4 NP_078791.3 Q64LD2 WDR25_HUMAN WD repeat domain 25 299 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1) 20 Melanoma(154;0.212) CGGGCCGCCCGGTGGGCTCCC 0.627000 72 77 3.19358e-47 6.25838e-47 0.003610 1 0 LIPK 643414 broad.mit.edu 37 10 90490869 90490869 + Missense_Mutation SNP G G A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr10:90490869G>A ENST00000404190.1 + 3 353 c.353G>A c.(352-354)aGc>aAc p.S118N NM_001080518.1 NP_001073987.1 Q5VXJ0 LIPK_HUMAN lipase, family member K 118 lipid catabolic process extracellular region hydrolase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 12 Colorectal(252;0.0381) Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05) TTGGGGAACAGCCGAGGAAAC 0.443000 6 16 0 0 0.001168 0 0 ARHGAP4 393 broad.mit.edu 37 X 153178193 153178193 + Missense_Mutation SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chrX:153178193G>T ENST00000370028.3 - 13 1680 c.1623C>A c.(1621-1623)aaC>aaA p.N541K ARHGAP4_ENST00000393721.1_Missense_Mutation_p.N323K|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.N480K|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.N501K|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.N478K NM_001164741.1 NP_001158213.1 P98171 RHG04_HUMAN Rho GTPase activating protein 4 501 Rho-GAP. apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AGAGTCTCTGGTTATACTGGG 0.562000 36 125 5.04308e-16 8.11568e-16 0.006230 1 0 LRRFIP2 9209 broad.mit.edu 37 3 37107762 37107762 + Missense_Mutation SNP G G A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr3:37107762G>A ENST00000421307.1 - 23 1941 c.1519C>T c.(1519-1521)Ctc>Ttc p.L507F LRRFIP2_ENST00000440230.1_Intron|LRRFIP2_ENST00000396428.2_Intron|LRRFIP2_ENST00000336686.4_Missense_Mutation_p.L507F|LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000354379.4_Intron NM_006309.2 NP_006300.1 Q9Y608 LRRF2_HUMAN leucine rich repeat (in FLII) interacting protein 2 507 Wnt receptor signaling pathway LRR domain binding p.0?(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 TCCTCTCTGAGCATATCTCGC 0.468000 9 95 0 0 0.008291 0 0 HCN1 348980 broad.mit.edu 37 5 45262540 45262540 + Missense_Mutation SNP T T C TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr5:45262540T>C ENST00000303230.4 - 8 2213 c.2156A>G c.(2155-2157)tAt>tGt p.Y719C NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 719 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 GGGGGAGGCATAGTGGAAAGT 0.657000 29 26 0 0 0.007291 0 0 DPY19L2P1 554236 broad.mit.edu 37 7 35142594 35142594 + RNA SNP A A T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr7:35142594A>T ENST00000436258.1 - 0 1811 AAATTCTCCTATTATGCTCCA 0.348000 24 30 0 0 0.003954 0 0 ADH1C 126 broad.mit.edu 37 4 100260735 100260735 + RNA SNP T T A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr4:100260735T>A ENST00000515683.1 - 0 1453 NM_000669.3 NP_000660.1 P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) AAAATCTACCTCTTTCCAGAG 0.393000 9 14 0 0 0.006214 0 0 MAGEA8 4107 broad.mit.edu 37 X 149013681 149013681 + Missense_Mutation SNP T T A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chrX:149013681T>A ENST00000535454.1 + 4 1184 c.635T>A c.(634-636)aTc>aAc p.I212N MAGEA8_ENST00000286482.1_Missense_Mutation_p.I212N|MAGEA8_ENST00000542674.1_Missense_Mutation_p.I212N NM_001166400.1 NP_001159872.1 P43361 MAGA8_HUMAN melanoma antigen family A, 8 212 MAGE. NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(192;6.56e-05) CTGGGCATGATCTTAATGGAG 0.572000 31 78 0 0 0.002445 0 0 REG3A 5068 broad.mit.edu 37 2 79386484 79386484 + Silent SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr2:79386484G>T ENST00000393878.1 - 1 302 c.48C>A c.(46-48)tcC>tcA p.S16S REG3A_ENST00000409839.3_Silent_p.S16S|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Silent_p.S16S NM_138938.2 NP_620355.1 Q06141 REG3A_HUMAN regenerating islet-derived 3 alpha 16 acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1) 50 GCATGAGGCAGGAAAGCAGCA 0.532000 11 49 7.03913e-09 9.45032e-09 0.001368 1 0 BTN3A2 11118 broad.mit.edu 37 6 26368879 26368879 + Missense_Mutation SNP A A G TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr6:26368879A>G ENST00000356386.2 + 4 360 c.172A>G c.(172-174)Atg>Gtg p.M58V BTN3A2_ENST00000527422.1_Missense_Mutation_p.M58V|BTN3A2_ENST00000532994.1_Intron|BTN3A2_ENST00000377708.2_Missense_Mutation_p.M58V|BTN3A2_ENST00000508906.2_Missense_Mutation_p.M16V|BTN3A2_ENST00000396934.3_Missense_Mutation_p.M35V|BTN3A2_ENST00000396948.1_Missense_Mutation_p.M58V NM_001197246.2|NM_001197247.1|NM_007047.3 NP_001184175.1|NP_001184176.1|NP_008978.2 P78410 BT3A2_HUMAN butyrophilin, subfamily 3, member A2 58 Ig-like V-type. integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5) 10 GTTCCCGACCATGAGTGCAGA 0.562000 43 168 0 0 0.003610 0 0 USP1 7398 broad.mit.edu 37 1 62916294 62916294 + Missense_Mutation SNP G G C TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr1:62916294G>C ENST00000339950.4 + 9 2815 c.2000G>C c.(1999-2001)gGa>gCa p.G667A USP1_ENST00000371146.1_Missense_Mutation_p.G667A NM_003368.4 NP_003359.3 O94782 UBP1_HUMAN ubiquitin specific peptidase 1 667 DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process nucleoplasm cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 19 all_neural(321;0.0281) BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535) GAAGCTATTGGACTTCTTGGA 0.358000 27 40 0 0 0.003954 0 0 ZNF71 58491 broad.mit.edu 37 19 57133270 57133270 + Missense_Mutation SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr19:57133270G>T ENST00000328070.6 + 3 849 c.615G>T c.(613-615)caG>caT p.Q205H NM_021216.4 NP_067039.1 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 205 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) CTGTGCACCAGCGCACGCACA 0.657000 12 36 1.08611e-07 1.38907e-07 0.000978 1 0 SATB2 23314 broad.mit.edu 37 2 200213481 200213481 + Silent SNP C C T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr2:200213481C>T ENST00000443023.1 - 6 2404 c.939G>A c.(937-939)ctG>ctA p.L313L SATB2_ENST00000428695.1_Silent_p.L254L|SATB2_ENST00000260926.5_Silent_p.L372L|SATB2_ENST00000457245.1_Silent_p.L372L|SATB2_ENST00000417098.1_Silent_p.L372L Q9UPW6 SATB2_HUMAN SATB homeobox 2 372 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TGGCCCTCTTCAGCTCATCTC 0.488000 23 123 0 0 0.003954 0 0 FCRLA 84824 broad.mit.edu 37 1 161683078 161683078 + Missense_Mutation SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr1:161683078G>T ENST00000540926.1 + 6 1299 c.1006G>T c.(1006-1008)Gat>Tat p.D336Y FCRLA_ENST00000350710.3_Missense_Mutation_p.D112Y|FCRLA_ENST00000540521.1_Missense_Mutation_p.D213Y|FCRLA_ENST00000236938.6_Missense_Mutation_p.D347Y|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000546024.1_Missense_Mutation_p.D258Y|FCRLA_ENST00000367953.3_Missense_Mutation_p.D336Y|FCRLA_ENST00000309691.6_Missense_Mutation_p.D241Y|FCRLA_ENST00000367950.1_Missense_Mutation_p.D123Y|FCRLA_ENST00000349527.4_Missense_Mutation_p.D235Y|FCRLA_ENST00000294796.4_Missense_Mutation_p.D196Y|FCRLA_ENST00000367959.2_Missense_Mutation_p.D353Y|FCRLA_ENST00000367949.2_Missense_Mutation_p.D163Y|FCRLA_ENST00000367957.2_Missense_Mutation_p.D207Y Q7L513 FCRLA_HUMAN Fc receptor-like A 330 cell differentiation cytoplasm|extracellular region breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1) 34 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) ACACATGCAGGATGTGAGAGT 0.522000 25 65 1.38267e-23 2.50738e-23 0.005443 1 0 LPAR4 2846 broad.mit.edu 37 X 78010545 78010545 + Missense_Mutation SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chrX:78010545C>A ENST00000435339.2 + 2 584 c.179C>A c.(178-180)tCt>tAt p.S60Y LPAR4_ENST00000373301.2_Missense_Mutation_p.S60Y NM_005296.2 NP_005287.1 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 60 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 AACAGTGTCTCTCTGTTTGTC 0.383000 82 178 1.52223e-32 2.93573e-32 0.003610 1 0 CT45A5 441521 broad.mit.edu 37 X 134948092 134948092 + Missense_Mutation SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chrX:134948092C>A ENST00000370724.3 - 3 477 c.233G>T c.(232-234)gGt>gTt p.G78V CT45A5_ENST00000491480.1_Missense_Mutation_p.G78V|CT45A4_ENST00000420087.2_Intron NM_001007551.3|NM_001172288.1 NP_001007552.1|NP_001165759.1 Q6NSH3 CT455_HUMAN cancer/testis antigen family 45, member A5 78 endometrium(1)|large_intestine(2)|lung(6) 9 TTTGCTGAAACCAGTGAAGTC 0.448000 9 546 1.12685e-05 1.32925e-05 0.004482 1 0 SPATA5 166378 broad.mit.edu 37 4 123859323 123859323 + Nonsense_Mutation SNP T T A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr4:123859323T>A ENST00000274008.3 + 8 1446 c.1377T>A c.(1375-1377)tgT>tgA p.C459* SPATA5_ENST00000422835.2_3'UTR NM_145207.2 NP_660208.2 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 459 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 ATGCACTTTGTCCGAAAAGAG 0.353000 28 46 0 0 0.008361 0 0 FBXO22 26263 broad.mit.edu 37 15 76205553 76205553 + Missense_Mutation SNP A A G TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr15:76205553A>G ENST00000308275.3 + 3 394 c.289A>G c.(289-291)Atc>Gtc p.I97V FBXO22_ENST00000453211.2_Missense_Mutation_p.I97V|FBXO22_ENST00000540507.1_5'UTR NM_147188.2 NP_671717.1 Q8NEZ5 FBX22_HUMAN F-box protein 22 97 ubiquitin-dependent protein catabolic process ubiquitin-protein ligase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 GAATGTTCGCATCTTACCACA 0.388000 16 49 0 0 0.003163 0 0 RFTN2 130132 broad.mit.edu 37 2 198498578 198498578 + Nonsense_Mutation SNP A A T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr2:198498578A>T ENST00000295049.3 - 4 1118 c.582T>A c.(580-582)tgT>tgA p.C194* NM_144629.2 NP_653230.2 Q52LD8 RFTN2_HUMAN raftlin family member 2 194 plasma membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3) 30 TCCAACTTCTACAGTTTTCAT 0.398000 38 111 0 0 0.007835 0 0 IVL 3713 broad.mit.edu 37 1 152883939 152883939 + Missense_Mutation SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr1:152883939C>A ENST00000368764.3 + 2 1730 c.1666C>A c.(1666-1668)Caa>Aaa p.Q556K IVL_ENST00000392667.2_Missense_Mutation_p.Q410K P07476 INVO_HUMAN involucrin 556 isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CCAAGACATTCAACCAGCCCT 0.592000 52 34 6.32628e-17 1.03871e-16 0.003610 1 0 PARVB 29780 broad.mit.edu 37 22 44553883 44553883 + Missense_Mutation SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr22:44553883G>T ENST00000338758.6 + 11 928 c.865G>T c.(865-867)Gtt>Ttt p.V289F PARVB_ENST00000404989.1_Missense_Mutation_p.V252F|PARVB_ENST00000406477.3_Missense_Mutation_p.V322F NM_013327.4 NP_037459.2 Q9HBI1 PARVB_HUMAN parvin, beta 289 CH 2. cell adhesion|cell junction assembly cytoskeleton|cytosol|focal adhesion actin binding NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 25 Ovarian(80;0.0246)|all_neural(38;0.0423) CGTGTACCTGGTTCTGCTCAT 0.498000 18 32 7.41877e-09 9.90528e-09 0.001882 1 0 SULT1C3 442038 broad.mit.edu 37 2 108863677 108863677 + Silent SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr2:108863677C>A ENST00000329106.2 + 1 27 c.27C>A c.(25-27)ccC>ccA p.P9P SULT1C3_ENST00000376700.1_Silent_p.P9P NM_001008743.1 NP_001008743.1 Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 3 9 cytoplasm alcohol sulfotransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4) 16 AAAACGCTCCCACGATGGAAA 0.353000 24 52 1.2476e-16 2.03467e-16 0.006320 1 0 OR14I1 401994 broad.mit.edu 37 1 248845465 248845465 + Silent SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr1:248845465G>T ENST00000342623.3 - 1 164 c.141C>A c.(139-141)atC>atA p.I47I NM_001004734.1 NP_001004734.1 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, member 1 47 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 35 GATCGAGAGTGATGACTGCAA 0.507000 7 53 4.26978e-12 6.25034e-12 0.003330 1 0 DYNC1H1 1778 broad.mit.edu 37 14 102481660 102481660 + Silent SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr14:102481660C>A ENST00000360184.4 + 35 7397 c.7233C>A c.(7231-7233)ccC>ccA p.P2411P NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 2411 AAA 2 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 CCGCTTCCCCCATGCTGCAGG 0.622000 12 11 1.5842e-08 2.09218e-08 0.001855 1 0 ZNF674 641339 broad.mit.edu 37 X 46359634 46359634 + Missense_Mutation SNP T T A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chrX:46359634T>A ENST00000523374.1 - 6 1600 c.1390A>T c.(1390-1392)Aca>Tca p.T464S ZNF674_ENST00000414387.2_Missense_Mutation_p.T458S NM_001039891.2|NM_001146291.1|NM_001190417.1 NP_001034980.1|NP_001139763.1|NP_001177346.1 Q2M3X9 ZN674_HUMAN zinc finger protein 674 464 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2) 2 TTCTCTCCTGTATGCATTCTC 0.418000 7 73 0 0 0.004482 0 0 ZNF99 7652 broad.mit.edu 37 19 22939436 22939436 + Missense_Mutation SNP C C T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr19:22939436C>T ENST00000397104.3 - 7 2734 c.2735G>A c.(2734-2736)gGg>gAg p.G912E zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) CGGTTTCTCCCCAGTATGAAT 0.358000 21 27 0 0 0.001523 0 0 GABRA3 2556 broad.mit.edu 37 X 151358252 151358252 + Missense_Mutation SNP G G A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chrX:151358252G>A ENST00000370314.4 - 9 1331 c.1093C>T c.(1093-1095)Cgg>Tgg p.R365W GABRA3_ENST00000497894.1_5'UTR|GABRA3_ENST00000535043.1_Missense_Mutation_p.R365W|GABRA3_ENST00000370311.1_Missense_Mutation_p.R365W NM_000808.3 NP_000799.1 P34903 GBRA3_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 3 365 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 breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6) 37 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GCCCAACTCCGCTTGGTGAAA 0.493000 9 111 0 0 0.004482 0 0 C11orf24 53838 broad.mit.edu 37 11 68030132 68030132 + Missense_Mutation SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr11:68030132C>A ENST00000304271.6 - 4 733 c.331G>T c.(331-333)Gcc>Tcc p.A111S C11orf24_ENST00000530166.1_5'UTR|C11orf24_ENST00000533310.1_Intron NM_022338.3 NP_071733.1 Q96F05 CK024_HUMAN chromosome 11 open reading frame 24 111 integral to membrane endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1) 13 GTACTGGAGGCCACAGCCGTG 0.587000 23 29 1.9806e-07 2.50669e-07 0.002299 1 0 PCDH19 57526 broad.mit.edu 37 X 99663476 99663476 + Silent SNP G G A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chrX:99663476G>A ENST00000373034.4 - 1 1795 c.120C>T c.(118-120)gcC>gcT p.A40A PCDH19_ENST00000255531.7_Silent_p.A40A|PCDH19_ENST00000420881.2_Silent_p.A40A NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 40 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 TGGCCACGTTGGCAATCACCG 0.642000 4 15 0 0 0.001168 0 0 SETD5 55209 broad.mit.edu 37 3 9477415 9477415 + Missense_Mutation SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr3:9477415G>T ENST00000402466.1 + 7 827 c.59G>T c.(58-60)gGg>gTg p.G20V SETD5_ENST00000407969.1_Missense_Mutation_p.G150V|SETD5_ENST00000402198.1_Missense_Mutation_p.G131V|SETD5_ENST00000406341.1_Missense_Mutation_p.G131V|SETD5_ENST00000302463.6_Missense_Mutation_p.G20V Q9C0A6 SETD5_HUMAN SET domain containing 5 131 NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) TTTTCAGGTGGGGATAGCAGT 0.423000 5 7 5.9392e-07 7.28902e-07 0.001168 1 0 PTCHD3 374308 broad.mit.edu 37 10 27702277 27702277 + Missense_Mutation SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr10:27702277G>T ENST00000438700.3 - 1 1020 c.903C>A c.(901-903)ttC>ttA p.F301L NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 301 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 TGTATCCTCCGAAGAAGCCGG 0.597000 21 75 4.26978e-12 6.25034e-12 0.003330 1 0 KLHL17 339451 broad.mit.edu 37 1 898548 898548 + Missense_Mutation SNP C C T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr1:898548C>T ENST00000338591.3 + 7 1209 c.1102C>T c.(1102-1104)Cgc>Tgc p.R368C NM_198317.2 NP_938073.1 Q6TDP4 KLH17_HUMAN kelch-like family member 17 368 Interaction with F-actin (By similarity). actin cytoskeleton organization actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane protein complex scaffold central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GCGCACCGACCGCTGGCACGT 0.701000 8 15 0 0 0.004482 0 0 DNAJC27 51277 broad.mit.edu 37 2 25174272 25174272 + Missense_Mutation SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr2:25174272C>A ENST00000264711.2 - 6 869 c.680G>T c.(679-681)gGg>gTg p.G227V DNAJC27_ENST00000534855.1_Missense_Mutation_p.G156V NM_001198559.1|NM_016544.2 NP_001185488.1|NP_057628.1 Q9NZQ0 DJC27_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 27 227 J. protein folding|small GTPase mediated signal transduction GTP binding|heat shock protein binding|unfolded protein binding breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 13 CCTTGAGGCCCCAGGTTTGAC 0.443000 36 116 1.49673e-21 2.69412e-21 0.006230 1 0 PPARG 5468 broad.mit.edu 37 3 12475588 12475588 + Missense_Mutation SNP G G A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr3:12475588G>A ENST00000397026.2 + 9 1779 c.1396G>A c.(1396-1398)Gag>Aag p.E466K PPARG_ENST00000397012.2_Missense_Mutation_p.E460K|PPARG_ENST00000397015.2_Missense_Mutation_p.E460K|PPARG_ENST00000287820.6_Missense_Mutation_p.E488K|PPARG_ENST00000397000.1_3'UTR|PPARG_ENST00000309576.6_Missense_Mutation_p.E460K|PPARG_ENST00000539812.1_3'UTR|PPARG_ENST00000397010.2_Missense_Mutation_p.E460K P37231 PPARG_HUMAN peroxisome proliferator-activated receptor gamma 488 Ligand-binding. activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding PAX8/PPARG(117) breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) CAAGAAGACGGAGACAGACAT 0.512000 T PAX8 follicular thyroid """Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension""" 4 50 0 0 0.000248 0 0 TBL1X 6907 broad.mit.edu 37 X 9652091 9652091 + Missense_Mutation SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chrX:9652091C>A ENST00000217964.7 + 6 860 c.220C>A c.(220-222)Cac>Aac p.H74N TBL1X_ENST00000424279.1_Missense_Mutation_p.H23N|TBL1X_ENST00000536365.1_Missense_Mutation_p.H23N|TBL1X_ENST00000380961.1_Missense_Mutation_p.H23N|TBL1X_ENST00000407597.2_Missense_Mutation_p.H74N NM_005647.3 NP_005638.1 O60907 TBL1X_HUMAN transducin (beta)-like 1X-linked 74 LisH. canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2) 20 Hepatocellular(5;0.000888) AGGTTTTTCCCACTCGGCTTT 0.562000 23 69 5.35356e-11 7.56346e-11 0.002780 1 0 BHLHE23 128408 broad.mit.edu 37 20 61637730 61637730 + Missense_Mutation SNP T T A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr20:61637730T>A ENST00000370346.2 - 1 657 c.349A>T c.(349-351)Aac>Tac p.N117Y NM_080606.3 NP_542173.1 Q8NDY6 BHE23_HUMAN basic helix-loop-helix family, member e23 117 Helix-loop-helix motif. transcription, DNA-dependent nucleus DNA binding NS(1) 1 AGCGCGTCGTTTAGGTCGTGC 0.721000 7 19 0 0 0.003080 0 0 PPP3CB 5532 broad.mit.edu 37 10 75198004 75198004 + Missense_Mutation SNP T T A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr10:75198004T>A ENST00000360663.5 - 14 1682 c.1571A>T c.(1570-1572)cAg>cTg p.Q524L PPP3CB_ENST00000394829.2_Missense_Mutation_p.Q525L|PPP3CB_ENST00000544628.1_Missense_Mutation_p.Q152L|PPP3CB_ENST00000394828.2_Missense_Mutation_p.Q515L P16298 PP2BB_HUMAN protein phosphatase 3, catalytic subunit, beta isozyme 524 breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1) 22 Prostate(51;0.0119) AGTGGGTCACTGGGCAGTATG 0.547000 8 36 0 0 0.003080 0 0 C5orf54 63920 broad.mit.edu 37 5 159821008 159821008 + Missense_Mutation SNP T T G TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr5:159821008T>G ENST00000408953.3 - 2 1997 c.1490A>C c.(1489-1491)gAa>gCa p.E497A C5orf54_ENST00000523213.1_Missense_Mutation_p.E497A NM_022090.3 NP_071373.2 Q8IZ13 CE054_HUMAN chromosome 5 open reading frame 54 497 breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 12 agctcgtaattcagcaagatc 0.353000 4 68 0 0 0.000248 0 0 BNIP2 663 broad.mit.edu 37 15 59971852 59971852 + Silent SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr15:59971852C>A ENST00000267859.3 - 4 690 c.597G>T c.(595-597)ggG>ggT p.G199G BNIP2_ENST00000415213.2_Silent_p.G140G|BNIP2_ENST00000607373.1_Silent_p.G78G Q12982 BNIP2_HUMAN BCL2/adenovirus E1B 19kDa interacting protein 2 78 CRAL-TRIO. anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation nuclear envelope|perinuclear region of cytoplasm calcium ion binding|GTPase activator activity|protein binding NS(1)|large_intestine(2)|lung(5)|ovary(1) 9 AGTCAATCTCCCCACTTTCAT 0.383000 7 28 5.4927e-09 7.45657e-09 0.004482 1 0 DYNAP 284254 broad.mit.edu 37 18 52265217 52265217 + Silent SNP G G C TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr18:52265217G>C ENST00000321600.1 + 3 520 c.474G>C c.(472-474)gtG>gtC p.V158V DYNAP_ENST00000585973.1_Silent_p.V106V NM_173629.1 NP_775900.1 dynactin associated protein GAGAGTGTGTGACTGTCAAAC 0.443000 11 58 0 0 0.008291 0 0 SERPINB3 6317 broad.mit.edu 37 18 61328359 61328359 + Missense_Mutation SNP G G A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr18:61328359G>A ENST00000283752.5 - 2 235 c.92C>T c.(91-93)cCt>cTt p.P31L SERPINB3_ENST00000332821.8_Missense_Mutation_p.P31L|SERPINB11_ENST00000489748.1_RNA NM_006919.2 NP_008850.1 P29508 SPB3_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 3 31 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 GATGCTGATAGGGGAATAGAA 0.423000 32 80 0 0 0.002836 0 0 PIGN 23556 broad.mit.edu 37 18 59821870 59821870 + Missense_Mutation SNP G G A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr18:59821870G>A ENST00000357637.5 - 7 872 c.457C>T c.(457-459)Cac>Tac p.H153Y PIGN_ENST00000400334.3_Missense_Mutation_p.H153Y NM_176787.4 NP_789744.1 O95427 PIGN_HUMAN phosphatidylinositol glycan anchor biosynthesis, class N 153 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphotransferase activity, for other substituted phosphate groups breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Colorectal(73;0.187) GTATAAACGTGGTCTCCACTA 0.313000 28 82 0 0 0.008361 0 0 ATP2B2 491 broad.mit.edu 37 3 10401703 10401703 + Silent SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr3:10401703G>T ENST00000397077.1 - 12 2204 c.1629C>A c.(1627-1629)cgC>cgA p.R543R ATP2B2_ENST00000383800.4_Silent_p.R543R|ATP2B2_ENST00000360273.2_Silent_p.R588R|ATP2B2_ENST00000352432.4_Silent_p.R588R|ATP2B2_ENST00000343816.4_Silent_p.R574R Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 588 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 GCATCTGGCTGCGCACGGGCT 0.612000 15 28 3.27435e-08 4.25491e-08 0.002450 1 0 CDH5 1003 broad.mit.edu 37 16 66436571 66436571 + Silent SNP C C T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr16:66436571C>T ENST00000341529.3 + 12 2002 c.1854C>T c.(1852-1854)atC>atT p.I618I CDH5_ENST00000539168.1_Silent_p.I57I NM_001795.3 NP_001786.2 P33151 CADH5_HUMAN cadherin 5, type 2 (vascular endothelium) 618 adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) CCCTGCTCATCTTCCTGCGGC 0.721000 7 14 0 0 0.006214 0 0 CNKSR1 10256 broad.mit.edu 37 1 26515397 26515397 + Missense_Mutation SNP C C T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr1:26515397C>T ENST00000531191.1 + 19 2058 c.1051C>T c.(1051-1053)Ctc>Ttc p.L351F CNKSR1_ENST00000374253.5_Missense_Mutation_p.L616F|CNKSR1_ENST00000361530.6_Missense_Mutation_p.L609F Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 1 616 Pro-rich. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 28 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) AGACCCTCAGCTCAATGAGCG 0.657000 30 44 0 0 0.008361 0 0 GZMK 3003 broad.mit.edu 37 5 54326372 54326372 + Missense_Mutation SNP T T A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr5:54326372T>A ENST00000231009.2 + 3 393 c.323T>A c.(322-324)gTt>gAt p.V108D CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA NM_002104.2 NP_002095.1 P49863 GRAK_HUMAN granzyme K (granzyme 3; tryptase II) 108 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4) 15 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) TTCTCAAGAGTTACATCAGAT 0.398000 32 52 0 0 0.002445 0 0 DAG1 1605 broad.mit.edu 37 3 49569139 49569139 + Missense_Mutation SNP G G C TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr3:49569139G>C ENST00000545947.1 + 6 1917 c.1195G>C c.(1195-1197)Ggc>Cgc p.G399R DAG1_ENST00000539901.1_Missense_Mutation_p.G399R|DAG1_ENST00000541308.1_Missense_Mutation_p.G399R|DAG1_ENST00000538711.1_Missense_Mutation_p.G399R|DAG1_ENST00000515359.2_Missense_Mutation_p.G399R|DAG1_ENST00000308775.2_Missense_Mutation_p.G399R NM_001177634.2 NP_001171105.1 Q14118 DAG1_HUMAN dystroglycan 1 (dystrophin-associated glycoprotein 1) 399 Mucin-like domain.|Required for laminin recognition.|Thr-rich. cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) CACAGTTCCTGGCCAGATTCG 0.587000 30 50 0 0 0.006320 0 0 CRYBB3 1417 broad.mit.edu 37 22 25601313 25601313 + Missense_Mutation SNP C C T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr22:25601313C>T ENST00000215855.2 + 5 534 c.454C>T c.(454-456)Cgt>Tgt p.R152C CRYBB3_ENST00000404334.1_Intron NM_004076.3 NP_004067.1 P26998 CRBB3_HUMAN crystallin, beta B3 152 Beta/gamma crystallin 'Greek key' 3. visual perception protein binding|structural constituent of eye lens large_intestine(2)|lung(2)|prostate(1) 5 GGCGAGTGTCCGTGCCATCAA 0.572000 9 21 0 0 0.004482 0 0 PTER 9317 broad.mit.edu 37 10 16553053 16553053 + Missense_Mutation SNP T T C TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr10:16553053T>C ENST00000378000.1 + 6 1094 c.848T>C c.(847-849)cTc>cCc p.L283P PTER_ENST00000423462.2_Missense_Mutation_p.L236P|PTER_ENST00000535784.2_Missense_Mutation_p.L283P|PTER_ENST00000298942.3_Missense_Mutation_p.L283P NM_001001484.2|NM_001261838.1|NM_030664.4 NP_001001484.1|NP_001248767.1|NP_109589.2 Q96BW5 PTER_HUMAN phosphotriesterase related 283 catabolic process hydrolase activity, acting on ester bonds|zinc ion binding endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2) 15 AGGGTGCGTCTCCTGGTGGAA 0.403000 5 13 0 0 0.001984 0 0 GRM4 2914 broad.mit.edu 37 6 34008365 34008365 + Silent SNP G G C TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr6:34008365G>C ENST00000374181.3 - 6 1498 c.1329C>G c.(1327-1329)ggC>ggG p.G443G GRM4_ENST00000374177.3_Silent_p.G327G|GRM4_ENST00000544773.1_Silent_p.G274G|GRM4_ENST00000455714.2_Silent_p.G303G|GRM4_ENST00000535756.1_Silent_p.G310G|GRM4_ENST00000545715.1_Silent_p.G135G|GRM4_ENST00000538487.1_Silent_p.G443G NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 443 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) GCAGCTGGGTGCCATCTACAG 0.657000 13 26 0 0 0.001855 0 0 ATP10B 23120 broad.mit.edu 37 5 160097648 160097648 + Missense_Mutation SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr5:160097648C>A ENST00000327245.5 - 7 1343 c.497G>T c.(496-498)tGc>tTc p.C166F NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 166 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATCCTTCCAGCACTTCTGCAC 0.458000 28 96 5.90632e-09 7.97354e-09 0.002445 1 0 AKAP13 11214 broad.mit.edu 37 15 86225438 86225438 + Silent SNP T T A rs146923250 TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr15:86225438T>A ENST00000394518.2 + 15 5246 c.5151T>A c.(5149-5151)acT>acA p.T1717T AKAP13_ENST00000394510.2_5'UTR|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Silent_p.T1721T NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 1717 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 CTAATCTGACTGAGAGGTACT 0.328000 3 30 0 0 0.004672 0 0 TDRD5 163589 broad.mit.edu 37 1 179587789 179587789 + Missense_Mutation SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr1:179587789G>T ENST00000444136.1 + 5 1137 c.887G>T c.(886-888)aGt>aTt p.S296I TDRD5_ENST00000367614.1_Missense_Mutation_p.S296I|TDRD5_ENST00000294848.8_Missense_Mutation_p.S296I NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 296 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 GGAACTATCAGTTCAGAACTA 0.313000 43 43 8.48111e-28 1.56129e-27 0.003610 1 0 FAM171B 165215 broad.mit.edu 37 2 187626990 187626990 + Missense_Mutation SNP G G C TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr2:187626990G>C ENST00000304698.5 + 8 2124 c.1921G>C c.(1921-1923)Gtt>Ctt p.V641L NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 641 integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 AAATGAGGCTGTTGTAATGAC 0.507000 32 122 0 0 0.003755 0 0 C2orf78 388960 broad.mit.edu 37 2 74040695 74040695 + Missense_Mutation SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr2:74040695C>A ENST00000409561.1 + 2 310 c.189C>A c.(187-189)agC>agA p.S63R NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 63 Ser-rich. cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 TAACAGGAAGCATCTCCAACT 0.507000 8 49 1.12685e-05 1.32925e-05 0.004482 1 0 MAP3K15 389840 broad.mit.edu 37 X 19443726 19443726 + Missense_Mutation SNP G G C TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chrX:19443726G>C ENST00000338883.4 - 9 1361 c.1362C>G c.(1360-1362)agC>agG p.S454R MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.S286R NM_001001671.3 NP_001001671.3 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 15 454 ATP binding|MAP kinase kinase kinase activity|metal ion binding NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) GCATGCTGACGCTGAAGAACT 0.478000 7 24 0 0 0.001984 0 0 CTSA 5476 broad.mit.edu 37 20 44522627 44522627 + Splice_Site SNP G G A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr20:44522627G>A ENST00000372484.3 + 8 1029 c.746_splice c.e8-1 p.R249_splice CTSA_ENST00000191018.5_Splice_Site_p.R231_splice|CTSA_ENST00000372459.2_Splice_Site_p.R231_splice|CTSA_ENST00000354880.5_Splice_Site_p.R232_splice NM_000308.2|NM_001127695.1 NP_000299.2|NP_001121167.1 P10619 PPGB_HUMAN cathepsin A 231 Y -> N (in GSL; small amount of activity). intracellular protein transport|proteolysis endoplasmic reticulum|lysosome|nucleus enzyme activator activity|protein binding|serine-type carboxypeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) TCTCCTACAGGCTTTGGTCTT 0.537000 19 76 0 0 0.007413 0 0 CLCN2 1181 broad.mit.edu 37 3 184071086 184071086 + Silent SNP T T C TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr3:184071086T>C ENST00000265593.4 - 17 2151 c.1980A>G c.(1978-1980)ctA>ctG p.L660L CLCN2_ENST00000344937.7_Silent_p.L643L|CLCN2_ENST00000457512.1_Silent_p.L660L|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Silent_p.L616L|CLCN2_ENST00000423355.2_3'UTR NM_004366.5 NP_004357.3 P51788 CLCN2_HUMAN chloride channel, voltage-sensitive 2 660 chloride channel complex voltage-gated chloride channel activity breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) CCTGATCAGATAGTGGAGAGG 0.597000 41 71 0 0 0.007835 0 0 PGLYRP3 114771 broad.mit.edu 37 1 153270572 153270572 + Missense_Mutation SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr1:153270572C>A ENST00000290722.1 - 7 938 c.886G>T c.(886-888)Gac>Tac p.D296Y NM_052891.1 NP_443123.1 Q96LB9 PGRP3_HUMAN peptidoglycan recognition protein 3 296 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 28 all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TGGATCAGGTCCTGGGCCGCC 0.547000 240 204 1.44279e-96 2.89751e-96 0.003610 1 0 OR2AG1 144125 broad.mit.edu 37 11 6807054 6807054 + Silent SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr11:6807054C>A ENST00000307401.4 + 1 807 c.786C>A c.(784-786)ccC>ccA p.P262P NM_001004489.2 NP_001004489.1 Q9H205 O2AG1_HUMAN olfactory receptor, family 2, subfamily AG, member 1 262 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) ATGTCTTGCCCAGTTCCTTCC 0.488000 20 44 8.04996e-18 1.33982e-17 0.001882 1 0 CYP17A1 1586 broad.mit.edu 37 10 104592307 104592307 + Missense_Mutation SNP G G A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr10:104592307G>A ENST00000369887.3 - 6 1271 c.1100C>T c.(1099-1101)gCc>gTc p.A367V NM_000102.3 NP_000093.1 P05093 CP17A_HUMAN cytochrome P450, family 17, subfamily A, polypeptide 1 367 androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) NADH(DB00157)|Progesterone(DB00396) GAGCATAGGGGCCACGGGCCT 0.602000 23 75 0 0 0.002780 0 0 SMARCD1 6602 broad.mit.edu 37 12 50479969 50479969 + Missense_Mutation SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr12:50479969G>T ENST00000394963.4 + 2 601 c.203G>T c.(202-204)cGa>cTa p.R68L SMARCD1_ENST00000381513.4_Missense_Mutation_p.R68L NM_003076.4 NP_003067.3 Q96GM5 SMRD1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 68 Interaction with ESR1, NR1H4, NR3C1, PGR and SMARCA4. chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex protein complex scaffold|transcription coactivator activity NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 18 CCAGGCAGCCGAATGACACCT 0.582000 25 44 3.28513e-13 5.05244e-13 0.003954 1 0 WISP1 8840 broad.mit.edu 37 8 134237699 134237699 + Missense_Mutation SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr8:134237699G>T ENST00000250160.6 + 4 783 c.677G>T c.(676-678)tGc>tTc p.C226F WISP1_ENST00000517423.1_Intron|WISP1_ENST00000377863.2_Missense_Mutation_p.C54F|WISP1_ENST00000220856.6_Missense_Mutation_p.C139F|WISP1_ENST00000519433.1_Intron NM_003882.3 NP_003873.1 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 226 TSP type-1. cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 21 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) TGGAGCCCTTGCTCCACCAGC 0.597000 27 115 1.30897e-18 2.20889e-18 0.001786 1 0 KIF4A 24137 broad.mit.edu 37 X 69516981 69516981 + Missense_Mutation SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chrX:69516981C>A ENST00000374403.3 + 4 451 c.369C>A c.(367-369)ttC>ttA p.F123L KIF4A_ENST00000374388.3_Missense_Mutation_p.F123L|KIF4A_ENST00000485406.1_3'UTR NM_012310.4 NP_036442.3 O95239 KIF4A_HUMAN kinesin family member 4A 123 Kinesin-motor. anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization chromosome|cytosol|midbody|nuclear matrix|spindle microtubule ATP binding|DNA binding|microtubule motor activity|protein binding breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 51 AACTGCTCTTCAAAGAAATTG 0.353000 15 43 1.52009e-12 2.30864e-12 0.003163 1 0 RYR1 6261 broad.mit.edu 37 19 38980864 38980864 + Missense_Mutation SNP C C T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr19:38980864C>T ENST00000355481.4 + 36 6094 c.5963C>T c.(5962-5964)gCa>gTa p.A1988V RYR1_ENST00000359596.3_Missense_Mutation_p.A1988V|RYR1_ENST00000360985.3_Missense_Mutation_p.A1988V NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1988 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AGCATGACCGCAGCAGAGACT 0.602000 8 44 0 0 0.004482 0 0 AMER2 219287 broad.mit.edu 37 13 25743891 25743891 + Missense_Mutation SNP G G A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr13:25743891G>A ENST00000357816.2 - 3 1985 c.1510C>T c.(1510-1512)Ccc>Tcc p.P504S AMER2_ENST00000381853.3_Missense_Mutation_p.P504S|AMER2_ENST00000515384.1_Missense_Mutation_p.P623S APC membrane recruitment protein 2 TGCACCACGGGATGGCTAGAT 0.562000 41 82 0 0 0.003214 0 0 TTC21A 199223 broad.mit.edu 37 3 39167856 39167856 + Missense_Mutation SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr3:39167856G>T ENST00000301819.6 + 12 1698 c.1521G>T c.(1519-1521)ttG>ttT p.L507F TTC21A_ENST00000431162.2_Missense_Mutation_p.L507F|TTC21A_ENST00000440121.1_Missense_Mutation_p.L458F NM_145755.2 NP_665698.2 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A 507 binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3) 50 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) CCCTGTATTTGATGGCTCAGG 0.542000 29 50 7.26314e-15 1.14607e-14 0.007291 1 0 KIF4B 285643 broad.mit.edu 37 5 154396339 154396339 + Silent SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr5:154396339C>A ENST00000435029.4 + 1 3080 c.2920C>A c.(2920-2922)Cga>Aga p.R974R NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 974 Interaction with PRC1 (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TGAGAAGATGCGAGAAGTGTG 0.463000 21 94 4.35082e-09 5.9396e-09 0.001523 1 0 ACTG2 72 broad.mit.edu 37 2 74129562 74129562 + Missense_Mutation SNP C C G TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr2:74129562C>G ENST00000409624.1 + 4 845 c.202C>G c.(202-204)Ctc>Gtc p.L68V ACTG2_ENST00000345517.3_Missense_Mutation_p.L68V|ACTG2_ENST00000409918.1_Missense_Mutation_p.L68V|ACTG2_ENST00000409731.3_Intron P63267 ACTH_HUMAN actin, gamma 2, smooth muscle, enteric 68 muscle contraction cytoskeleton|cytosol ATP binding large_intestine(3)|lung(14)|skin(1) 18 GATCCTAACTCTCAAATACCC 0.483000 22 35 0 0 0.001882 0 0 ERCC6L 54821 broad.mit.edu 37 X 71428457 71428457 + Nonsense_Mutation SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chrX:71428457C>A ENST00000334463.3 - 2 295 c.160G>T c.(160-162)Gaa>Taa p.E54* ERCC6L_ENST00000373657.1_5'UTR|PIN4_ENST00000423432.2_Intron NM_017669.2 NP_060139.2 Q2NKX8 ERC6L_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 54 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1) 38 Renal(35;0.156) AGCACTTTTTCATTGGGAAAA 0.398000 16 39 6.31663e-08 8.16458e-08 0.003163 1 0 GAGE10 643832 broad.mit.edu 37 X 49161404 49161404 + Missense_Mutation SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chrX:49161404G>T ENST00000407599.3 + 2 159 c.66G>T c.(64-66)atG>atT p.M22I NM_001098413.2 NP_001091883.2 A6NGK3 GAG10_HUMAN G antigen 10 22 breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 Ovarian(276;0.236) CCCCTGAAATGATTGGGCCTA 0.408000 64 303 5.80444e-35 1.12838e-34 0.003610 1 0 TGM1 7051 broad.mit.edu 37 14 24731047 24731047 + Missense_Mutation SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr14:24731047C>A ENST00000206765.6 - 3 485 c.362G>T c.(361-363)cGc>cTc p.R121L TGM1_ENST00000544573.1_Intron NM_000359.2 NP_000350.1 P22735 TGM1_HUMAN transglutaminase 1 121 cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2) 24 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) CTGGTCCGAGCGCGAGCTCAG 0.597000 25 60 4.22769e-11 6.00778e-11 0.006320 1 0 SEC16B 89866 broad.mit.edu 37 1 177909851 177909851 + Splice_Site SNP T T A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr1:177909851T>A ENST00000308284.6 - 17 2112 c.e17-2 RP4-798P15.3_ENST00000354921.2_Splice_Site|RP4-798P15.3_ENST00000528461.1_Splice_Site NM_033127.2 NP_149118.2 Q96JE7 SC16B_HUMAN SEC16 homolog B (S. cerevisiae) protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 CTCTGCTAGCTGTGCCAGGTT 0.507000 26 13 0 0 0.004656 0 0 NXPE4 54827 broad.mit.edu 37 11 114450953 114450953 + Missense_Mutation SNP T T C TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr11:114450953T>C ENST00000375478.3 - 5 1180 c.1000A>G c.(1000-1002)Aca>Gca p.T334A NXPE4_ENST00000424261.2_Missense_Mutation_p.T50A NM_001077639.1 NP_001071107.1 neurexophilin and PC-esterase domain family, member 4 ATTTTGACTGTAGCCAAACTA 0.443000 35 91 0 0 0.003271 0 0 PRSS1 5644 broad.mit.edu 37 7 142460320 142460320 + Missense_Mutation SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr7:142460320G>T ENST00000486171.1 + 5 552 c.535G>T c.(535-537)Gtg>Ttg p.V179L PRSS1_ENST00000311737.7_Missense_Mutation_p.V165L P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 165 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) GGATGCTCCTGTGCTGAGCCA 0.532000 15 332 0.00400662 0.00444571 0.004007 1 0 OR2T4 127074 broad.mit.edu 37 1 248525924 248525924 + Missense_Mutation SNP G G A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr1:248525924G>A ENST00000366475.1 + 1 1042 c.1042G>A c.(1042-1044)Gag>Aag p.E348K NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 348 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 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) AAAAGCTATGGAGTAGACCAT 0.403000 11 110 0 0 0.008291 0 0 OR8B12 219858 broad.mit.edu 37 11 124412733 124412733 + Missense_Mutation SNP G G A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr11:124412733G>A ENST00000306842.2 - 1 842 c.818C>T c.(817-819)tCc>tTc p.S273F NM_001005195.1 NP_001005195.1 Q8NGG6 OR8BC_HUMAN olfactory receptor, family 8, subfamily B, member 12 273 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213) GAACAGGGAGGACACTTTCCC 0.448000 14 31 0 0 0.003163 0 0 TRAJ18 28737 broad.mit.edu 37 14 22994680 22994680 + RNA SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr14:22994680G>T ENST00000390519.1 + 0 61 TTGACTGTCTGGCCTGGTGAG 0.448000 35 47 9.04072e-19 1.53629e-18 0.003271 1 0 ABCD4 5826 broad.mit.edu 37 14 74764696 74764696 + Missense_Mutation SNP C C T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr14:74764696C>T ENST00000356924.4 - 4 505 c.362G>A c.(361-363)cGc>cAc p.R121H ABCD4_ENST00000557588.1_Missense_Mutation_p.R121H|ABCD4_ENST00000557554.1_Intron|ABCD4_ENST00000298816.7_Missense_Mutation_p.R34H NM_005050.3 NP_005041.1 O14678 ABCD4_HUMAN ATP-binding cassette, sub-family D (ALD), member 4 121 ABC transmembrane type-1. ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(234;0.00153) GAAGTAGAGGCGGTGAAGGTG 0.572000 11 57 0 0 0.000978 0 0 PDE6B 5158 broad.mit.edu 37 4 663834 663834 + Splice_Site SNP G G A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr4:663834G>A ENST00000496514.1 + 22 2524 c.e22-1 PDE6B_ENST00000429163.2_Splice_Site|PDE6B_ENST00000255622.6_Intron P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 TTCTCTTGCAGTAGGCACAGA 0.562000 60 95 0 0 0.003610 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 4 9 2.56e-06 3.0796e-06 0.000248 1 0 ART4 420 broad.mit.edu 37 12 14993823 14993823 + Missense_Mutation SNP T T C TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr12:14993823T>C ENST00000228936.4 - 2 790 c.409A>G c.(409-411)Act>Gct p.T137A C12orf60_ENST00000527783.1_Intron NM_021071.2 NP_066549.2 Q93070 NAR4_HUMAN ADP-ribosyltransferase 4 137 arginine metabolic process|protein ADP-ribosylation anchored to membrane|plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3) 15 ATGGCTCTAGTAAAGTCAGAA 0.438000 34 56 0 0 0.004878 0 0 UNC5D 137970 broad.mit.edu 37 8 35631947 35631947 + Missense_Mutation SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr8:35631947C>A ENST00000287272.2 + 15 2422 c.2402C>A c.(2401-2403)gCc>gAc p.A801D UNC5D_ENST00000420357.1_Missense_Mutation_p.A803D|UNC5D_ENST00000453357.2_Missense_Mutation_p.A865D|UNC5D_ENST00000404895.2_Missense_Mutation_p.A870D|UNC5D_ENST00000416672.1_Missense_Mutation_p.A875D|UNC5D_ENST00000449677.1_Missense_Mutation_p.A446D Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 870 apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) ACCCCCAATGCCAAAGGCAAG 0.473000 13 55 0.000151284 0.000172592 0.001855 1 0 SLC7A14 57709 broad.mit.edu 37 3 170198532 170198532 + Silent SNP G G C TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr3:170198532G>C ENST00000231706.4 - 7 1854 c.1539C>G c.(1537-1539)acC>acG p.T513T CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron NM_020949.2 NP_066000.2 Q8TBB6 S7A14_HUMAN solute carrier family 7, member 14 513 integral to membrane amino acid transmembrane transporter activity p.T513T(1) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) TCATGTCCACGGTGCCGTAAT 0.448000 74 127 0 0 0.003610 0 0 SLC38A5 92745 broad.mit.edu 37 X 48324401 48324401 + Splice_Site SNP C C T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chrX:48324401C>T ENST00000376876.3 - 7 1335 c.e7+1 SLC38A5_ENST00000376875.1_Splice_Site|SLC38A5_ENST00000317669.5_Splice_Site Q8WUX1 S38A5_HUMAN solute carrier family 38, member 5 cellular nitrogen compound metabolic process|ion transport integral to membrane|plasma membrane breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1) 19 TGCTCACTCACCCCTCGGGGT 0.592000 OREG0019763 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 14 0 0 0.003080 0 0 NOP2 4839 broad.mit.edu 37 12 6672840 6672840 + Missense_Mutation SNP G G C TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr12:6672840G>C ENST00000541778.1 - 7 1104 c.616C>G c.(616-618)Ctg>Gtg p.L206V NOP2_ENST00000545200.1_Missense_Mutation_p.L206V|NOP2_ENST00000322166.5_Missense_Mutation_p.L210V|NOP2_ENST00000399466.2_Missense_Mutation_p.L206V|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000382421.3_Missense_Mutation_p.L243V|NOP2_ENST00000537442.1_Missense_Mutation_p.L210V P46087 NOP2_HUMAN NOP2 nucleolar protein 210 positive regulation of cell proliferation|rRNA processing nucleolus protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 19 TTGATCTGCAGGCCCCCATCT 0.567000 OREG0021630 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 26 0 0 0.006214 0 0 INTS1 26173 broad.mit.edu 37 7 1526614 1526614 + Missense_Mutation SNP A A G TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr7:1526614A>G ENST00000389470.4 - 22 3198 c.3199T>C c.(3199-3201)Tcc>Ccc p.S1067P INTS1_ENST00000404767.3_Missense_Mutation_p.S924P Q8N201 INT1_HUMAN integrator complex subunit 1 924 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) TCCTCCCCGGAAGCAGCATCG 0.687000 3 14 0 0 0.004672 0 0 AGO3 192669 broad.mit.edu 37 1 36492838 36492838 + Missense_Mutation SNP G G C TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr1:36492838G>C ENST00000373191.4 + 12 1879 c.1530G>C c.(1528-1530)aaG>aaC p.K510N AGO3_ENST00000246314.6_Missense_Mutation_p.K276N NM_024852.3 NP_079128.2 argonaute RISC catalytic component 3 GGCATCTCAAGAACACATATT 0.488000 5 59 0 0 0.000602 0 0 REG4 83998 broad.mit.edu 37 1 120342457 120342457 + Missense_Mutation SNP G G C TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr1:120342457G>C ENST00000354219.1 - 5 633 c.194C>G c.(193-195)gCc>gGc p.A65G REG4_ENST00000530654.1_Missense_Mutation_p.A65G|REG4_ENST00000256585.5_Missense_Mutation_p.A65G NM_001159352.1 NP_001152824.1 Q9BYZ8 REG4_HUMAN regenerating islet-derived family, member 4 65 C-type lectin. extracellular region sugar binding central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2) 15 all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959) Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588) TGCCAGGTGGGCTCCGTTTCC 0.507000 12 173 0 0 0.001368 0 0 SNX8 29886 broad.mit.edu 37 7 2297100 2297100 + Missense_Mutation SNP G G A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr7:2297100G>A ENST00000222990.3 - 9 1076 c.1034C>T c.(1033-1035)gCc>gTc p.A345V NM_013321.2 NP_037453.1 Q9Y5X2 SNX8_HUMAN sorting nexin 8 345 cell communication|early endosome to Golgi transport|intracellular protein transport early endosome membrane phosphatidylinositol binding|protein binding breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3) 26 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14) CTTGTGCAGGGCCCGCTGGTG 0.672000 6 4 0 0 0.001168 0 0 OBSCN 84033 broad.mit.edu 37 1 228431083 228431083 + Missense_Mutation SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr1:228431083G>T ENST00000570156.2 + 11 3479 c.3405G>T c.(3403-3405)caG>caT p.Q1135H OBSCN_ENST00000422127.1_Missense_Mutation_p.Q1043H|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.Q1043H NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 71 Ig-like 11. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) TGGTGCAGCAGGCAGGCAAGA 0.577000 17 38 4.14922e-12 6.18564e-12 0.004007 1 0 OR6N1 128372 broad.mit.edu 37 1 158736189 158736189 + Missense_Mutation SNP G G A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr1:158736189G>A ENST00000335094.2 - 1 303 c.284C>T c.(283-285)tCt>tTt p.S95F NM_001005185.1 NP_001005185.1 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, member 1 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_hematologic(112;0.0378) GAGACACCCAGAGAATGAAAT 0.483000 6 75 0 0 0.001984 0 0 FAM187B 148109 broad.mit.edu 37 19 35716023 35716023 + Missense_Mutation SNP C C T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr19:35716023C>T ENST00000324675.3 - 2 863 c.815G>A c.(814-816)gGc>gAc p.G272D NM_152481.1 NP_689694.1 Q17R55 F187B_HUMAN family with sequence similarity 187, member B 272 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 9 CTGCCTGCCGCCGGTGGAGGG 0.667000 9 20 0 0 0.004482 0 0 C10orf118 55088 broad.mit.edu 37 10 115891846 115891846 + Nonsense_Mutation SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr10:115891846C>A ENST00000369287.3 - 11 2019 c.1753G>T c.(1753-1755)Gaa>Taa p.E585* C10orf118_ENST00000543782.1_Nonsense_Mutation_p.E183* NM_018017.2 NP_060487.2 Q7Z3E2 CJ118_HUMAN chromosome 10 open reading frame 118 585 NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2) 24 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0161)|all cancers(201;0.0397) AGCTCAGATTCTCTTTTCCTA 0.363000 27 57 5.77227e-19 9.8779e-19 0.008361 1 0 EPHB6 2051 broad.mit.edu 37 7 142562336 142562336 + Missense_Mutation SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr7:142562336G>T ENST00000392957.2 + 7 1565 c.778G>T c.(778-780)Ggc>Tgc p.G260C EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.G260C NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 260 Cys-rich. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) GGCAGCTGTGGGCACCTGTGT 0.667000 41 77 5.44703e-19 9.38743e-19 0.002222 1 0 SLMAP 7871 broad.mit.edu 37 3 57913021 57913021 + Splice_Site SNP A A G TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr3:57913021A>G ENST00000295951.3 + 22 3560 c.e22-1 SLMAP_ENST00000494088.1_Splice_Site|SLMAP_ENST00000442599.2_Splice_Site|SLMAP_ENST00000495364.1_Splice_Site|SLMAP_ENST00000295952.3_Splice_Site|SLMAP_ENST00000449503.2_Splice_Site|SLMAP_ENST00000428312.1_Splice_Site Q14BN4 SLMAP_HUMAN sarcolemma associated protein muscle contraction|protein folding integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum unfolded protein binding endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2) 18 BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182) CTTTCCACACAGAAACCCTGG 0.493000 5 9 0 0 0.000602 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72165763 72165763 + Missense_Mutation SNP G G C TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr14:72165763G>C ENST00000555818.1 + 11 3788 c.3440G>C c.(3439-3441)cGg>cCg p.R1147P SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R1147P|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R622P|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R1147P NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1147 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) TCCCAGTGTCGGAACTCTCCT 0.493000 22 60 0 0 0.001523 0 0 C9 735 broad.mit.edu 37 5 39316014 39316014 + Missense_Mutation SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr5:39316014G>T ENST00000263408.4 - 6 828 c.733C>A c.(733-735)Ccc>Acc p.P245T C9_ENST00000509186.1_5'UTR NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 245 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) GTTTCAGTGGGTGTAAATTTT 0.333000 20 65 1.01871e-10 1.43091e-10 0.008871 1 0 CTNNA2 1496 broad.mit.edu 37 2 80101283 80101283 + Missense_Mutation SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr2:80101283G>T ENST00000466387.1 + 10 1391 c.667G>T c.(667-669)Gcc>Tcc p.A223S CTNNA2_ENST00000496558.1_Missense_Mutation_p.A223S|CTNNA2_ENST00000402739.4_Missense_Mutation_p.A223S|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A257S|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A223S|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A223S P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 223 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 GCTGTACACGGCCTCTCAAGC 0.557000 10 43 7.48243e-07 9.09115e-07 0.006214 1 0 COL4A1 1282 broad.mit.edu 37 13 110839649 110839649 + Missense_Mutation SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr13:110839649C>A ENST00000375820.4 - 25 1685 c.1564G>T c.(1564-1566)Ggc>Tgc p.G522C NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 522 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CCTGGCTGGCCTATCAGCCCT 0.547000 12 24 2.31682e-05 2.70667e-05 0.003163 1 0 OR5B3 441608 broad.mit.edu 37 11 58170070 58170070 + Missense_Mutation SNP C C T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr11:58170070C>T ENST00000309403.2 - 1 812 c.813G>A c.(811-813)atG>atA p.M271I NM_001005469.1 NP_001005469.1 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, member 3 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1) 34 Esophageal squamous(5;0.0027) Breast(21;0.0778) ACACAGGTGCCATTTTGTCTG 0.453000 32 54 0 0 0.002445 0 0 FAM124A 220108 broad.mit.edu 37 13 51805511 51805511 + Silent SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr13:51805511G>T ENST00000322475.8 + 2 231 c.96G>T c.(94-96)acG>acT p.T32T FAM124A_ENST00000280057.6_Silent_p.T32T NM_001242312.1 NP_001229241.1 Q86V42 F124A_HUMAN family with sequence similarity 124A 32 p.T32T(1) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1) 26 Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;4.25e-07) TGTCCTCCACGAGCAGTAAGT 0.428000 31 75 2.42023e-17 4.00079e-17 0.003271 1 0 SPATA5 166378 broad.mit.edu 37 4 123859322 123859322 + Missense_Mutation SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr4:123859322G>T ENST00000274008.3 + 8 1445 c.1376G>T c.(1375-1377)tGt>tTt p.C459F SPATA5_ENST00000422835.2_3'UTR NM_145207.2 NP_660208.2 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 459 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 GATGCACTTTGTCCGAAAAGA 0.353000 28 45 2.4375e-19 4.29212e-19 0.007291 1 0 NFX1 4799 broad.mit.edu 37 9 33364014 33364014 + Silent SNP A A G TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr9:33364014A>G ENST00000379540.3 + 20 2942 c.2880A>G c.(2878-2880)ttA>ttG p.L960L NFX1_ENST00000379521.4_Silent_p.L960L NM_002504.4 NP_002495.2 Q12986 NFX1_HUMAN nuclear transcription factor, X-box binding 1 960 inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 LUSC - Lung squamous cell carcinoma(29;0.00506) GBM - Glioblastoma multiforme(74;0.224) TCAGGAGATTAGCAGAGGCAT 0.393000 10 21 0 0 0.000978 0 0 TANC2 26115 broad.mit.edu 37 17 61482500 61482500 + Nonsense_Mutation SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr17:61482500G>T ENST00000424789.2 + 18 3131 c.3127G>T c.(3127-3129)Gga>Tga p.G1043* RP11-269G24.3_ENST00000583552.1_RNA|AC015923.1_ENST00000431604.1_RNA|TANC2_ENST00000389520.4_Nonsense_Mutation_p.G1043* NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 1043 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 AGCTGCAGCCGGAAGGGGCAA 0.562000 9 15 1.08611e-07 1.38907e-07 0.000978 1 0 NOV 4856 broad.mit.edu 37 8 120431548 120431548 + Missense_Mutation SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr8:120431548G>T ENST00000259526.3 + 4 967 c.740G>T c.(739-741)cGg>cTg p.R247L NM_002514.3 NP_002505.1 P48745 NOV_HUMAN nephroblastoma overexpressed 247 TSP type-1. regulation of cell growth growth factor activity|insulin-like growth factor binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3) 21 all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.000507) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TGCATGGTGCGGCCCTGTGAA 0.562000 34 92 5.8336e-16 9.32609e-16 0.003271 1 0 COL6A5 256076 broad.mit.edu 37 3 130095284 130095284 + Missense_Mutation SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr3:130095284G>T ENST00000265379.6 + 3 766 c.272G>T c.(271-273)aGc>aTc p.S91I COL6A5_ENST00000432398.2_Missense_Mutation_p.S91I A8TX70 CO6A5_HUMAN collagen, type VI, alpha 5 91 Nonhelical region.|VWFA 1. axon guidance|cell adhesion collagen endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 AAAGGCAGAAGCCCCATGCTG 0.517000 11 5 3.86212e-05 4.49041e-05 0.008291 1 0 EDA2R 60401 broad.mit.edu 37 X 65824988 65824988 + Missense_Mutation SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chrX:65824988G>T ENST00000374719.3 - 3 224 c.168C>A c.(166-168)caC>caA p.H56Q EDA2R_ENST00000456230.2_Missense_Mutation_p.H56Q|EDA2R_ENST00000253392.5_Missense_Mutation_p.H56Q|EDA2R_ENST00000450752.1_Missense_Mutation_p.H56Q|EDA2R_ENST00000396050.1_Missense_Mutation_p.H56Q|EDA2R_ENST00000451436.2_Intron NM_021783.3 NP_068555.1 Q9HAV5 TNR27_HUMAN ectodysplasin A2 receptor 56 cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity integral to plasma membrane tumor necrosis factor receptor activity breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 13 TCTGACATCTGTGGTGGCCCC 0.542000 12 28 2.68362e-12 4.05043e-12 0.001368 1 0 SMARCD1 6602 broad.mit.edu 37 12 50492536 50492536 + Nonsense_Mutation SNP C C T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr12:50492536C>T ENST00000394963.4 + 12 1830 c.1432C>T c.(1432-1434)Cga>Tga p.R478* SMARCD1_ENST00000381513.4_Nonsense_Mutation_p.R437*|SMARCD1_ENST00000548573.1_Nonsense_Mutation_p.R276* NM_003076.4 NP_003067.3 Q96GM5 SMRD1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 478 Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo. chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex protein complex scaffold|transcription coactivator activity NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 18 GGAGGAGCGCCGAGCTGAGTT 0.537000 11 20 0 0 0.000978 0 0 OR2AG1 144125 broad.mit.edu 37 11 6807055 6807055 + Missense_Mutation SNP A A G TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr11:6807055A>G ENST00000307401.4 + 1 808 c.787A>G c.(787-789)Agt>Ggt p.S263G NM_001004489.2 NP_001004489.1 Q9H205 O2AG1_HUMAN olfactory receptor, family 2, subfamily AG, member 1 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TGTCTTGCCCAGTTCCTTCCA 0.483000 20 44 0 0 0.001882 0 0 MAMLD1 10046 broad.mit.edu 37 X 149639102 149639102 + Silent SNP G G A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chrX:149639102G>A ENST00000370401.2 + 4 1567 c.1257G>A c.(1255-1257)ccG>ccA p.P419P MAMLD1_ENST00000426613.2_Silent_p.P394P|MAMLD1_ENST00000432680.2_Silent_p.P394P|MAMLD1_ENST00000262858.5_Silent_p.P419P Q13495 MAMD1_HUMAN mastermind-like domain containing 1 419 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) CTCAACAGCCGCAGTTCGGCC 0.592000 73 187 0 0 0.003610 0 0 ZNF473 25888 broad.mit.edu 37 19 50549674 50549674 + Missense_Mutation SNP T T A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr19:50549674T>A ENST00000595661.1 + 6 2469 c.1974T>A c.(1972-1974)agT>agA p.S658R CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000391821.2_Missense_Mutation_p.S658R|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Missense_Mutation_p.S646R|ZNF473_ENST00000270617.3_Missense_Mutation_p.S658R|CTD-2126E3.3_ENST00000599410.1_RNA Q8WTR7 ZN473_HUMAN zinc finger protein 473 658 histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) TCAGCCACAGTGCACACCTCT 0.453000 22 28 0 0 0.002299 0 0 ORC4 5000 broad.mit.edu 37 2 148733486 148733486 + Silent SNP T T A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr2:148733486T>A ENST00000535373.1 - 3 474 c.42A>T c.(40-42)acA>acT p.T14T ORC4_ENST00000392858.1_Silent_p.T14T|ORC4_ENST00000264169.2_Silent_p.T14T|ORC4_ENST00000540442.1_Intron|ORC4_ENST00000392857.4_Silent_p.T14T|ORC4_ENST00000536575.1_Intron|ORC4_ENST00000542387.1_5'UTR NM_001190879.2 NP_001177808.1 O43929 ORC4_HUMAN origin recognition complex, subunit 4 14 cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 14 AAAGGCACTCTGTGTGAATTA 0.299000 7 53 0 0 0.003080 0 0 CD163L1 283316 broad.mit.edu 37 12 7556223 7556223 + Missense_Mutation SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr12:7556223G>T ENST00000313599.3 - 6 1373 c.1316C>A c.(1315-1317)aCt>aAt p.T439N CD163L1_ENST00000396630.1_Missense_Mutation_p.T439N|CD163L1_ENST00000416109.2_Missense_Mutation_p.T449N Q9NR16 C163B_HUMAN CD163 molecule-like 1 439 SRCR 4. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 CTCATTCCCAGTGCAAGATAT 0.448000 46 58 2.61675e-31 4.92924e-31 0.003214 1 0 GDA 9615 broad.mit.edu 37 9 74810477 74810477 + Translation_Start_Site SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr9:74810477C>A ENST00000545168.1 + 0 301 GDA_ENST00000376986.1_Missense_Mutation_p.P20Q|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000376989.3_Missense_Mutation_p.P37Q|GDA_ENST00000238018.4_Missense_Mutation_p.P62Q|GDA_ENST00000358399.3_Missense_Mutation_p.P62Q NM_001242507.2 NP_001229436.1 Q9Y2T3 GUAD_HUMAN guanine deaminase nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1) 32 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) TGCTTCAAGCCGTGTGAAATA 0.358000 3 21 0.00024832 0.000280659 0.000248 1 0 PYGB 5834 broad.mit.edu 37 20 25257281 25257281 + Splice_Site SNP G G A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr20:25257281G>A ENST00000216962.4 + 6 770 c.e6-1 NM_002862.3 NP_002853.2 P11216 PYGB_HUMAN phosphorylase, glycogen; brain glucose metabolic process|glycogen catabolic process cytoplasm glycogen phosphorylase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 31 Pyridoxal Phosphate(DB00114) TTTGTGGCCAGGTGGTGCTGG 0.682000 7 29 0 0 0.001984 0 0 LEP 3952 broad.mit.edu 37 7 127894809 127894809 + Missense_Mutation SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr7:127894809G>T ENST00000308868.4 + 3 548 c.497G>T c.(496-498)gGg>gTg p.G166V NM_000230.2 NP_000221.1 P41159 LEP_HUMAN leptin 166 adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth extracellular space endometrium(1)|large_intestine(2)|lung(5) 8 CTCAGCCCTGGGTGCTGAGGC 0.577000 13 18 9.05144e-12 1.31707e-11 0.001855 1 0 KCNH1 3756 broad.mit.edu 37 1 210977509 210977509 + Splice_Site SNP C C T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr1:210977509C>T ENST00000367007.4 - 8 1551 c.e8-1 KCNH1_ENST00000271751.4_Splice_Site NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) TAGAGAAGTGCTAGAGGTGAG 0.488000 10 10 0 0 0.006214 0 0 SPRR3 6707 broad.mit.edu 37 1 152975806 152975829 + In_Frame_Del DEL CCAGGCTACACCAAGGTCCCTGAA CCAGGCTACACCAAGGTCCCTGAA - rs1970328 byFrequency TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr1:152975806_152975829delCCAGGCTACACCAAGGTCCCTGAA ENST00000331860.3 + 3 460_483 c.310_333delCCAGGCTACACCAAGGTCCCTGAA c.(310-333)del p.PGYTKVPE104del SPRR3_ENST00000542696.1_In_Frame_Del_p.PGYTKVPE96del|SPRR3_ENST00000295367.4_In_Frame_Del_p.PGYTKVPE104del NM_005416.2 NP_005407.1 Q9UBC9 SPRR3_HUMAN small proline-rich protein 3 104 14 X 8 AA approximate tandem repeats. Missing. keratinization|peptide cross-linking|wound healing cytoplasm protein binding|structural molecule activity p.Y106C(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 11 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GGTCCCTGAGCCAGGCTACACCAAGGTCCCTGAACCAGGCAGCA 0.567 17 79 --- --- --- --- OR2L8 391190 broad.mit.edu 37 1 248112595 248112595 + Frame_Shift_Del DEL G G - TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr1:248112595delG ENST00000357191.3 + 1 436 c.436delG c.(436-438)ggfs p.G146fs OR2L13_ENST00000366478.2_Intron NM_001001963.1 NP_001001963.1 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene) 146 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) GATGATAACAGGGTCTTGGAT 0.433 118 107 --- --- --- --- GPR149 344758 broad.mit.edu 37 3 154146739 154146739 + Frame_Shift_Del DEL C C - TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr3:154146739delC ENST00000389740.2 - 1 765 c.666delG c.(664-666)ccfs p.P223fs NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 223 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GGAGTCTCGGCGGCTCCTCCG 0.577 33 71 --- --- --- --- NKD2 85409 broad.mit.edu 37 5 1038447 1038449 + In_Frame_Del DEL CAC CAC - rs3840989 TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr5:1038447_1038449delCAC ENST00000296849.5 + 10 1544_1546 c.1315_1317delCAC c.(1315-1317)del p.H447del NKD2_ENST00000274150.4_3'UTR|NKD2_ENST00000382730.2_In_Frame_Del_p.AP78del NM_033120.2 NP_149111.1 Q969F2 NKD2_HUMAN naked cuticle homolog 2 (Drosophila) 447 His-rich. exocytosis|Wnt receptor signaling pathway cytoplasmic membrane-bounded vesicle|plasma membrane calcium ion binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1) 14 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09) Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165) ccaccacgagcaccaccaccacc 0.690 3 5 --- --- --- --- TAF11 6882 broad.mit.edu 37 6 34846380 34846381 + Frame_Shift_Ins INS - - T rs139408667 TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr6:34846380_34846381insT ENST00000361288.4 - 5 753_754 c.622_623insA c.(622-624)catfs p.H208fs UHRF1BP1_ENST00000452449.2_Intron|TAF11_ENST00000420584.2_3'UTR NM_005643.3 NP_005634.1 Q15544 TAF11_HUMAN TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa 208 positive regulation by host of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction transcription factor TFIID complex protein N-terminus binding|thyroid hormone receptor binding|transcription coactivator activity|vitamin D receptor binding p.I208fs*>4(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(1) 6 GAAGAAGATGATTTTTTTGTGC 0.421 10 130 --- --- --- --- USP2-AS1 100499227 broad.mit.edu 37 11 119274142 119274142 + RNA DEL T T - rs66493459 TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr11:119274142delT ENST00000498979.2 + 0 273 USP2-AS1_ENST00000578923.1_RNA|USP2-AS1_ENST00000530002.1_RNA|USP2-AS1_ENST00000500970.1_RNA|USP2-AS1_ENST00000577297.1_RNA NR_034160.1 AGTGTTTAAGttttttttttt 0.343 2 4 --- --- --- --- STK11 6794 broad.mit.edu 37 19 1221226 1221226 + Frame_Shift_Del DEL C C - TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr19:1221226delC ENST00000326873.7 + 6 1922 c.749delC c.(748-750)agfs p.T250fs NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 250 Protein kinase. T -> P (in sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39). anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(2)|p.Y246fs*3(1) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 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)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) AACATCACCACGGGTCTGTAC 0.592 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 14 11 --- --- --- --- KEAP1 9817 broad.mit.edu 37 19 10602611 10602612 + Frame_Shift_Ins INS - - A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e068c22-e821-49e5-b7f3-d71b9179513e 10b141f3-4486-4931-b615-a05c63f4bea5 g.chr19:10602611_10602612insA ENST00000171111.5 - 3 1513_1514 c.966_967insT c.(964-969)ccaggtfs p.G323fs KEAP1_ENST00000393623.2_Frame_Shift_Ins_p.G323fs NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 323 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) CGGCCCACCTTGGGCGCCCGGC 0.649 12 31 --- --- --- ---