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 DGKA 1606 broad.mit.edu 37 12 56335361 56335361 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr12:56335361G>C ENST00000331886.5 + 15 1697 c.1243G>C c.(1243-1245)Gag>Cag p.E415Q DGKA_ENST00000394147.1_Missense_Mutation_p.E415Q|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Missense_Mutation_p.E415Q NM_001345.4 NP_001336.2 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 415 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1) 25 Vitamin E(DB00163) GGATGGTCCTGAGATAGGGTG 0.468000 22 76 0 0 1 0 0 ZKSCAN5 23660 broad.mit.edu 37 7 99103931 99103931 + Missense_Mutation SNP G G T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr7:99103931G>T ENST00000394170.2 + 2 515 c.264G>T c.(262-264)caG>caT p.Q88H ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.Q88H|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.Q88H NM_014569.3 NP_055384.1 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 88 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) CGAAGGAGCAGATCCTGGAGC 0.612000 21 70 2.98393e-07 3.1328e-07 1 1 0 SYNE3 161176 broad.mit.edu 37 14 95912406 95912406 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr14:95912406C>T ENST00000334258.5 - 8 1486 c.1472G>A c.(1471-1473)cGc>cAc p.R491H SYNE3_ENST00000554873.1_Missense_Mutation_p.R248H|SYNE3_ENST00000553340.1_Missense_Mutation_p.R491H|SYNE3_ENST00000557275.1_Missense_Mutation_p.R491H NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 CTCTTTCAGGCGGGAGCTTTC 0.592000 24 87 0 0 1 0 0 AMPD2 271 broad.mit.edu 37 1 110172445 110172445 + Silent SNP G G T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr1:110172445G>T ENST00000256578.3 + 15 2412 c.2052G>T c.(2050-2052)ctG>ctT p.L684L AMPD2_ENST00000528667.1_Silent_p.L684L|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000358729.4_Silent_p.L609L|AMPD2_ENST00000528454.1_Silent_p.L566L|AMPD2_ENST00000342115.4_Silent_p.L603L|AMPD2_ENST00000393688.3_Silent_p.L565L NM_004037.7 NP_004028.3 Q01433 AMPD2_HUMAN adenosine monophosphate deaminase 2 684 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding breast(1)|large_intestine(3)|ovary(2)|skin(1) 7 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228) CGTTTGTGCTGAGGCCACACT 0.632000 23 57 1.96895e-08 2.08072e-08 1 1 0 STEAP1B 256227 broad.mit.edu 37 7 22532225 22532225 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr7:22532225C>T ENST00000404369.4 - 4 1136 c.721G>A c.(721-723)Gtg>Atg p.V241M STEAP1B_ENST00000406890.2_Missense_Mutation_p.V222M NM_001164460.1 NP_001157932.1 Q6NZ63 STEAL_HUMAN STEAP family member 1B 222 integral to membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity endometrium(1)|kidney(1)|lung(2) 4 GAGTCACTCACAGATGGAATA 0.368000 6 18 0 0 1 0 0 ZWILCH 55055 broad.mit.edu 37 15 66821195 66821195 + Silent SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr15:66821195G>A ENST00000307897.5 + 11 1355 c.975G>A c.(973-975)ttG>ttA p.L325L ZWILCH_ENST00000446801.2_Silent_p.L211L|ZWILCH_ENST00000535141.2_Silent_p.L211L|ZWILCH_ENST00000565627.1_Silent_p.L211L NM_017975.3 NP_060445.3 Q9H900 ZWILC_HUMAN zwilch kinetochore protein 325 cell division|mitotic cell cycle checkpoint|mitotic prometaphase condensed chromosome kinetochore|cytosol protein binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1) 18 TTCAGACCTTGAAGCATGACA 0.388000 7 18 0 0 1 0 0 SYNGAP1 8831 broad.mit.edu 37 6 33405739 33405739 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr6:33405739C>G ENST00000418600.2 + 8 1158 c.1057C>G c.(1057-1059)Ctg>Gtg p.L353V SYNGAP1_ENST00000293748.5_Missense_Mutation_p.L353V|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.L294V|SYNGAP1_ENST00000496374.1_3'UTR NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 353 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 AGTGGCCACCCTGGCTGGGCG 0.642000 18 28 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100349659 100349659 + RNA SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr7:100349659C>T ENST00000542585.1 + 0 2079 ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACCATTCCCTCAGAAAAACCC 0.522000 25 59 0 0 1 0 0 GCFC2 6936 broad.mit.edu 37 2 75900572 75900572 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr2:75900572C>G ENST00000321027.3 - 13 2020 c.1887G>C c.(1885-1887)aaG>aaC p.K629N GCFC2_ENST00000409857.3_Missense_Mutation_p.K591N|MRPL19_ENST00000358788.6_Intron|GCFC2_ENST00000541687.1_3'UTR NM_001201334.1|NM_003203.4 NP_001188263.1|NP_003194.3 P16383 GCF_HUMAN GC-rich sequence DNA-binding factor 2 629 negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity GCGCTTACCTCTTTGGATACA 0.294000 3 4 0 0 1 0 0 ABHD16A 7920 broad.mit.edu 37 6 31658330 31658330 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr6:31658330G>A ENST00000375842.4 - 10 1222 c.236C>T c.(235-237)tCc>tTc p.S79F ABHD16A_ENST00000395952.3_Missense_Mutation_p.S298F|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000440843.2_Missense_Mutation_p.S265F O95870 ABHGA_HUMAN abhydrolase domain containing 16A 298 integral to membrane hydrolase activity|protein binding endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 10 CAGGGGCGTGGAGACGCAGCC 0.597000 18 41 0 0 1 0 0 ITIH3 3699 broad.mit.edu 37 3 52836817 52836817 + Silent SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:52836817G>A ENST00000449956.2 + 13 1710 c.1704G>A c.(1702-1704)gaG>gaA p.E568E ITIH3_ENST00000416872.2_Intron NM_002217.3 NP_002208.3 Q06033 ITIH3_HUMAN inter-alpha-trypsin inhibitor heavy chain 3 568 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) AGCTGCTGGAGAAGCGGTGAG 0.617000 6 12 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49447425 49447425 + Splice_Site SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr12:49447425C>T ENST00000301067.7 - 6 673 c.e6-1 NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CGAGCCTCCTCTGCAGGGGGT 0.557000 3 7 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26247497 26247497 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr22:26247497C>T ENST00000335473.7 + 21 4086 c.3836C>T c.(3835-3837)cCa>cTa p.P1279L MYO18B_ENST00000407587.2_Missense_Mutation_p.P1280L|MYO18B_ENST00000536101.1_Missense_Mutation_p.P1279L NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1279 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CTGGACGCTCCACTCCTGAAG 0.567000 3 2 0 0 1 0 0 JAG1 182 broad.mit.edu 37 20 10622201 10622201 + Silent SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr20:10622201G>C ENST00000254958.5 - 23 3338 c.2823C>G c.(2821-2823)ctC>ctG p.L941L JAG1_ENST00000423891.2_Silent_p.L782L NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 941 angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 TCACCGGCTGGAGACTGGAAG 0.547000 Alagille Syndrome 22 61 0 0 1 0 0 TEX264 51368 broad.mit.edu 37 3 51737905 51737905 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:51737905C>G ENST00000415259.1 + 5 1896 c.815C>G c.(814-816)tCt>tGt p.S272C TEX264_ENST00000457573.1_Missense_Mutation_p.S272C|TEX264_ENST00000395057.1_Missense_Mutation_p.S272C|TEX264_ENST00000341333.5_Missense_Mutation_p.S272C|TEX264_ENST00000416589.1_Missense_Mutation_p.S272C|TEX264_ENST00000463857.1_3'UTR Q9Y6I9 TX264_HUMAN testis expressed 264 272 extracellular region NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 7 BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759) AGCGGCTCCTCTTTTGAGGAG 0.667000 11 19 0 0 1 0 0 GABRB2 2561 broad.mit.edu 37 5 160972281 160972281 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr5:160972281C>T ENST00000274547.2 - 4 406 c.189G>A c.(187-189)ggG>ggA p.G63G GABRB2_ENST00000520240.1_Silent_p.G63G|GABRB2_ENST00000517547.1_5'UTR|GABRB2_ENST00000353437.6_Silent_p.G63G|GABRB2_ENST00000517901.1_5'UTR|GABRB2_ENST00000393959.1_Silent_p.G63G NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 63 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CAATGTTCATCCCCACAGCCA 0.453000 3 8 0 0 1 0 0 TTYH1 57348 broad.mit.edu 37 19 54942066 54942066 + Nonsense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr19:54942066C>T ENST00000301194.4 + 9 1137 c.1015C>T c.(1015-1017)Cag>Tag p.Q339* TTYH1_ENST00000391739.3_Missense_Mutation_p.S369L|TTYH1_ENST00000376530.3_Nonsense_Mutation_p.Q339*|AC008746.3_ENST00000457113.1_RNA|TTYH1_ENST00000489425.1_3'UTR|TTYH1_ENST00000376531.3_Nonsense_Mutation_p.Q339* Q9H313 TTYH1_HUMAN tweety family member 1 339 cell adhesion chloride channel complex|plasma membrane chloride channel activity|iron ion transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0767) AGCTGTGCCTCAGTTCCCTTC 0.682000 8 22 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26432408 26432408 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr10:26432408G>A ENST00000265944.5 + 21 2460 c.2294G>A c.(2293-2295)aGa>aAa p.R765K MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 765 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 GTGGATGCTAGAGTTATTGAA 0.318000 3 8 0 0 1 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21069131 21069131 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr12:21069131G>A ENST00000381545.3 + 16 2278 c.2059G>A c.(2059-2061)Gat>Aat p.D687N SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.D687N|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000540229.1_Intron NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 687 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) TGCTGGAACAGATAGTAAAAC 0.348000 36 26 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38951118 38951118 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr19:38951118C>G ENST00000355481.4 + 20 2595 c.2464C>G c.(2464-2466)Ctt>Gtt p.L822V RYR1_ENST00000359596.3_Missense_Mutation_p.L822V|RYR1_ENST00000360985.3_Missense_Mutation_p.L822V NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 822 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) GCGACTCCATCTTGAACCCAT 0.642000 29 68 0 0 1 0 0 C10orf90 118611 broad.mit.edu 37 10 128114450 128114450 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr10:128114450G>C ENST00000284694.7 - 9 2203 c.2083C>G c.(2083-2085)Caa>Gaa p.Q695E C10orf90_ENST00000544758.1_Missense_Mutation_p.Q792E|C10orf90_ENST00000480379.1_Missense_Mutation_p.Q99E|C10orf90_ENST00000356858.3_3'UTR|C10orf90_ENST00000454341.1_Missense_Mutation_p.Q598E NM_001004298.2 NP_001004298.2 Q96M02 CJ090_HUMAN chromosome 10 open reading frame 90 695 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) GCATTCCTTTGAAGGAGCTGG 0.488000 13 12 0 0 1 0 0 DMXL2 23312 broad.mit.edu 37 15 51772987 51772987 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr15:51772987C>G ENST00000251076.5 - 24 6603 c.6316G>C c.(6316-6318)Gag>Cag p.E2106Q DMXL2_ENST00000543779.2_Missense_Mutation_p.E2106Q|DMXL2_ENST00000449909.3_Missense_Mutation_p.E1470Q|RP11-707P17.1_ENST00000561007.1_RNA NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2106 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) AGATCACTCTCTACTTTGGAA 0.383000 17 42 0 0 1 0 0 PKN3 29941 broad.mit.edu 37 9 131469234 131469234 + Nonsense_Mutation SNP G G T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr9:131469234G>T ENST00000291906.4 + 5 976 c.583G>T c.(583-585)Gag>Tag p.E195* NM_013355.3 NP_037487.2 Q6P5Z2 PKN3_HUMAN protein kinase N3 195 signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein binding|protein kinase C activity breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 AGCTGTGGCTGAGGGCGCCAA 0.647000 32 22 1.61788e-16 1.74789e-16 1 1 0 MICAL2 9645 broad.mit.edu 37 11 12264240 12264240 + Missense_Mutation SNP A A G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr11:12264240A>G ENST00000256194.4 + 20 2867 c.2579A>G c.(2578-2580)aAc>aGc p.N860S MICAL2_ENST00000537344.1_Intron|MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000342902.5_Missense_Mutation_p.N860S|MICAL2_ENST00000527546.1_Intron NM_001282663.1|NM_014632.2 NP_001269592.1|NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 860 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) AACTTGGCCAACAGGGAATTT 0.493000 18 56 0 0 1 0 0 SPOPL 339745 broad.mit.edu 37 2 139326581 139326581 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr2:139326581C>T ENST00000280098.4 + 11 1489 c.1110C>T c.(1108-1110)gcC>gcT p.A370A NM_001001664.2 NP_001001664.1 Q6IQ16 SPOPL_HUMAN speckle-type POZ protein-like 370 nucleus breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2) 21 BRCA - Breast invasive adenocarcinoma(221;0.0296) TAGCAGAAGCCTTTCGAGCAC 0.413000 53 192 0 0 1 0 0 TIMM8B 26521 broad.mit.edu 37 11 111957457 111957457 + Silent SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr11:111957457C>G ENST00000541231.1 - 1 65 c.36G>C c.(34-36)ctG>ctC p.L12L TIMM8B_ENST00000504148.2_5'UTR Q9Y5J9 TIM8B_HUMAN translocase of inner mitochondrial membrane 8 homolog B (yeast) 0 protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex protein binding|zinc ion binding large_intestine(1) 1 all_cancers(61;1.84e-10)|all_epithelial(67;9.33e-06)|Melanoma(852;4.01e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663) Epithelial(105;6.01e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.03e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0512) TTGTTCGCCTCAGGCTCGCCA 0.632000 OREG0021332 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 5 0 0 1 0 0 PALB2 79728 broad.mit.edu 37 16 23641235 23641235 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr16:23641235G>C ENST00000261584.4 - 5 2392 c.2240C>G c.(2239-2241)tCt>tGt p.S747C NM_024675.3 NP_078951.2 Q86YC2 PALB2_HUMAN partner and localizer of BRCA2 747 double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3) 55 GBM - Glioblastoma multiforme(48;0.0167) AACTTCTGTAGATGCTTTTTC 0.473000 """F, N, Mis""" """Wilms tumor, medulloblastoma, AML ,breast""" Involved in tolerance or repair of DNA crosslinks 11 51 0 0 1 0 0 AMBRA1 55626 broad.mit.edu 37 11 46419135 46419135 + Silent SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr11:46419135G>C ENST00000458649.2 - 18 4180 c.3762C>G c.(3760-3762)gtC>gtG p.V1254V AMBRA1_ENST00000528950.1_Silent_p.V1225V|AMBRA1_ENST00000298834.3_Silent_p.V1194V|AMBRA1_ENST00000534300.1_Silent_p.V1194V|AMBRA1_ENST00000314845.3_Silent_p.V1164V|AMBRA1_ENST00000533727.1_Silent_p.V1135V|AMBRA1_ENST00000426438.1_Silent_p.V1225V Q9C0C7 AMRA1_HUMAN autophagy/beclin-1 regulator 1 1254 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) CAGGAATGGGGACAGGGGAGG 0.647000 8 22 0 0 1 0 0 USP10 9100 broad.mit.edu 37 16 84778970 84778970 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr16:84778970G>A ENST00000219473.7 + 4 996 c.883G>A c.(883-885)Gag>Aag p.E295K USP10_ENST00000570191.1_Missense_Mutation_p.E299K NM_001272075.1|NM_005153.2 NP_001259004.1|NP_005144.2 Q14694 UBP10_HUMAN ubiquitin specific peptidase 10 295 DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process early endosome|intermediate filament cytoskeleton|nucleus cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1) 17 ATCCTCGGGTGAGGGCACAGC 0.557000 13 20 0 0 1 0 0 PKM 5315 broad.mit.edu 37 15 72495379 72495379 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr15:72495379G>C ENST00000319622.6 - 9 1747 c.1291C>G c.(1291-1293)Ctg>Gtg p.L431V PKM_ENST00000389093.3_Missense_Mutation_p.L431V|PKM_ENST00000449901.2_Intron|PKM_ENST00000565184.1_Missense_Mutation_p.L431V|PKM_ENST00000565154.1_Missense_Mutation_p.L431V|PKM_ENST00000335181.5_Intron|PKM_ENST00000568459.1_Missense_Mutation_p.L431V|PKM_ENST00000568883.1_Missense_Mutation_p.L266V NM_001206796.1|NM_182470.2|NM_182471.2 NP_001193725.1|NP_872270.1|NP_872271.1 pyruvate kinase, muscle endometrium(1)|lung(7) 8 GACTCCGTCAGAACTATCAAA 0.547000 10 50 0 0 1 0 0 ITGAV 3685 broad.mit.edu 37 2 187506202 187506202 + Missense_Mutation SNP T T A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr2:187506202T>A ENST00000261023.3 + 12 1320 c.1046T>A c.(1045-1047)cTa>cAa p.L349Q ITGAV_ENST00000374907.3_Missense_Mutation_p.L313Q|ITGAV_ENST00000433736.2_Missense_Mutation_p.L303Q|AC017101.10_ENST00000453665.1_RNA NM_002210.3 NP_002201 P06756 ITAV_HUMAN integrin, alpha V 349 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) TCAGTGTCTCTACAGAGAGCT 0.498000 45 100 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78335677 78335677 + Nonsense_Mutation SNP G G T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr17:78335677G>T ENST00000582970.1 + 39 11487 c.11344G>T c.(11344-11346)Gag>Tag p.E3782* CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Nonsense_Mutation_p.E1855*|RNF213_ENST00000508628.2_Nonsense_Mutation_p.E3831* NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GTCAACGGAGGAGGAATTAAA 0.507000 7 27 5.4927e-09 5.84279e-09 1 1 0 CETN3 1070 broad.mit.edu 37 5 89695298 89695298 + Missense_Mutation SNP C C A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr5:89695298C>A ENST00000283122.3 - 4 461 c.337G>T c.(337-339)Gat>Tat p.D113Y CETN3_ENST00000522864.1_Missense_Mutation_p.D113Y|CETN3_ENST00000522565.1_Missense_Mutation_p.D113Y|CETN3_ENST00000522083.1_Missense_Mutation_p.D113Y NM_004365.2 NP_004356.2 O15182 CETN3_HUMAN centrin, EF-hand protein, 3 113 EF-hand 3. cell division|centrosome cycle|mitosis centriole calcium ion binding lung(3) 3 all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23) CCTGAATCATCATCATCAAAT 0.328000 9 25 0.000673444 0.000687652 1 1 0 RECK 8434 broad.mit.edu 37 9 36100521 36100521 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr9:36100521C>G ENST00000377966.3 + 11 1845 c.1279C>G c.(1279-1281)Cgg>Ggg p.R427G NM_021111.2 NP_066934.1 O95980 RECK_HUMAN reversion-inducing-cysteine-rich protein with kazal motifs 427 anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) TAGTAAATCTCGGGGAAGTAT 0.388000 14 21 0 0 1 0 0 FLII 2314 broad.mit.edu 37 17 18150540 18150540 + Missense_Mutation SNP C C A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr17:18150540C>A ENST00000327031.4 - 21 2844 c.2619G>T c.(2617-2619)atG>atT p.M873I FLII_ENST00000379450.4_Missense_Mutation_p.M787I|FLII_ENST00000578558.1_Intron|FLII_ENST00000579294.1_Missense_Mutation_p.M862I|FLII_ENST00000545457.2_Missense_Mutation_p.M818I NM_002018.3 NP_002009.1 Q13045 FLII_HUMAN flightless I homolog (Drosophila) 873 multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_neural(463;0.228) GGTCAGCCTTCATCTGGTCTT 0.692000 18 34 5.35267e-07 5.59544e-07 1 1 0 NDRG2 57447 broad.mit.edu 37 14 21490649 21490649 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr14:21490649G>C ENST00000556147.1 - 4 1065 c.125C>G c.(124-126)tCt>tGt p.S42C NDRG2_ENST00000397855.3_Missense_Mutation_p.S28C|NDRG2_ENST00000298687.5_Missense_Mutation_p.S42C|NDRG2_ENST00000554143.1_Missense_Mutation_p.S28C|NDRG2_ENST00000397844.2_Missense_Mutation_p.S28C|NDRG2_ENST00000360463.3_Missense_Mutation_p.S28C|NDRG2_ENST00000298684.5_Missense_Mutation_p.S28C|NDRG2_ENST00000397853.3_Missense_Mutation_p.S42C|NDRG2_ENST00000553503.1_Missense_Mutation_p.S28C|NDRG2_ENST00000554104.1_5'UTR|NDRG2_ENST00000397851.2_Missense_Mutation_p.S42C|NDRG2_ENST00000397856.3_Missense_Mutation_p.S28C|NDRG2_ENST00000397847.2_Missense_Mutation_p.S42C|NDRG2_ENST00000555158.1_Missense_Mutation_p.S28C|NDRG2_ENST00000403829.3_Missense_Mutation_p.S38C|NDRG2_ENST00000397858.1_Missense_Mutation_p.S42C|NDRG2_ENST00000350792.3_Missense_Mutation_p.S28C Q9UN36 NDRG2_HUMAN NDRG family member 2 42 cell differentiation|nervous system development centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 23 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.0191) TGTCTCCACAGAGTGAGTCTG 0.567000 7 14 0 0 1 0 0 PALB2 79728 broad.mit.edu 37 16 23641730 23641730 + Missense_Mutation SNP G G T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr16:23641730G>T ENST00000261584.4 - 5 1897 c.1745C>A c.(1744-1746)tCc>tAc p.S582Y NM_024675.3 NP_078951.2 Q86YC2 PALB2_HUMAN partner and localizer of BRCA2 582 double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3) 55 GBM - Glioblastoma multiforme(48;0.0167) ATCATCCAAGGATAAATAAGC 0.368000 """F, N, Mis""" """Wilms tumor, medulloblastoma, AML ,breast""" Involved in tolerance or repair of DNA crosslinks 4 15 0.150653 0.150965 1 1 0 SGPP2 130367 broad.mit.edu 37 2 223339376 223339376 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr2:223339376C>G ENST00000321276.7 + 2 395 c.309C>G c.(307-309)atC>atG p.I103M NM_152386.2 NP_689599.2 Q8IWX5 SGPP2_HUMAN sphingosine-1-phosphate phosphatase 2 103 sphingosine metabolic process endoplasmic reticulum membrane|integral to membrane dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 18 Renal(207;0.0376) Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143) TGTTCTACATCACGTTTCTTC 0.353000 7 30 0 0 1 0 0 PLEKHG6 55200 broad.mit.edu 37 12 6435720 6435720 + Nonsense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr12:6435720C>T ENST00000449001.2 + 13 2049 c.1555C>T c.(1555-1557)Cag>Tag p.Q519* PLEKHG6_ENST00000304581.8_Nonsense_Mutation_p.Q81*|PLEKHG6_ENST00000011684.7_Nonsense_Mutation_p.Q551*|PLEKHG6_ENST00000396988.3_Nonsense_Mutation_p.Q551* NM_001144857.1 NP_001138329.1 Q3KR16 PKHG6_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 6 551 regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4) 23 GGAGGGCTCTCAGAGCAGCGC 0.597000 8 7 0 0 1 0 0 LSG1 55341 broad.mit.edu 37 3 194392810 194392810 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:194392810G>C ENST00000265245.5 - 1 396 c.82C>G c.(82-84)Cgt>Ggt p.R28G LSG1_ENST00000480853.1_Intron NM_018385.2 NP_060855.2 Q9H089 LSG1_HUMAN large 60S subunit nuclear export GTPase 1 28 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) TCAGTGTGACGATGGCTTCGG 0.567000 15 34 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3131758 3131758 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr4:3131758C>T ENST00000355072.5 + 13 1996 c.1851C>T c.(1849-1851)ttC>ttT p.F617F NM_002111.6 NP_002102 P42858 HD_HUMAN huntingtin 617 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) CGGAGGCCTTCAGGAACTCTT 0.478000 12 44 0 0 1 0 0 PLA2R1 22925 broad.mit.edu 37 2 160806179 160806179 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr2:160806179G>A ENST00000283243.7 - 25 3855 c.3649C>T c.(3649-3651)Cgc>Tgc p.R1217C PLA2R1_ENST00000392771.1_Missense_Mutation_p.R1217C NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 1217 C-type lectin 7. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 CTATGCCAGCGTCCGTTGCTG 0.448000 12 42 0 0 1 0 0 ATP12A 479 broad.mit.edu 37 13 25284984 25284984 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr13:25284984C>T ENST00000218548.6 + 21 3303 c.2970C>T c.(2968-2970)ctC>ctT p.L990L ATP12A_ENST00000381946.3_Silent_p.L984L NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 984 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) GTCTGATCCTCTCCTATGGCC 0.498000 4 33 0 0 1 0 0 EPHA2 1969 broad.mit.edu 37 1 16459753 16459753 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr1:16459753C>T ENST00000358432.5 - 11 2129 c.1975G>A c.(1975-1977)Gac>Aac p.D659N NM_004431.3 NP_004422.2 P29317 EPHA2_HUMAN EPH receptor A2 659 Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) CCGAGGAAGTCCACTCGCTGC 0.607000 18 41 0 0 1 0 0 KIF18A 81930 broad.mit.edu 37 11 28098656 28098656 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr11:28098656C>T ENST00000263181.6 - 10 1613 c.1323G>A c.(1321-1323)ctG>ctA p.L441L NM_031217.3 NP_112494.3 Q8NI77 KI18A_HUMAN kinesin family member 18A 441 blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 36 TTTCCAACTTCAGATATTCTT 0.303000 13 18 0 0 1 0 0 ABHD16A 7920 broad.mit.edu 37 6 31655876 31655876 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr6:31655876G>C ENST00000375842.4 - 16 1641 c.655C>G c.(655-657)Cct>Gct p.P219A ABHD16A_ENST00000395952.3_Missense_Mutation_p.P438A|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000440843.2_Missense_Mutation_p.P405A|ABHD16A_ENST00000471644.1_5'UTR O95870 ABHGA_HUMAN abhydrolase domain containing 16A 438 integral to membrane hydrolase activity|protein binding endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 10 ATGTCCTCAGGAACCCTGGGG 0.587000 23 62 0 0 1 0 0 KIF2C 11004 broad.mit.edu 37 1 45223597 45223597 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr1:45223597C>T ENST00000372217.1 + 11 1275 c.924C>T c.(922-924)ctC>ctT p.L308L KIF2C_ENST00000372222.3_Silent_p.L249L|KIF2C_ENST00000372224.4_Silent_p.L362L|KIF2C_ENST00000493027.1_3'UTR|KIF2C_ENST00000372218.4_Silent_p.L321L Q99661 KIF2C_HUMAN kinesin family member 2C 362 Kinesin-motor. blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1) 34 Acute lymphoblastic leukemia(166;0.155) GCGGAGACCTCTCTGGGAAAG 0.537000 25 57 0 0 1 0 0 TET1 80312 broad.mit.edu 37 10 70405861 70405861 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr10:70405861G>C ENST00000373644.4 + 4 3584 c.3375G>C c.(3373-3375)caG>caC p.Q1125H NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 1125 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 CAATACAACAGAAACCACCTT 0.378000 3 14 0 0 1 0 0 PROSER1 80209 broad.mit.edu 37 13 39587987 39587987 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr13:39587987G>C ENST00000352251.3 - 11 2235 c.1402C>G c.(1402-1404)Ctt>Gtt p.L468V PROSER1_ENST00000350125.3_Missense_Mutation_p.L446V|PROSER1_ENST00000484434.3_Intron NM_025138.4 NP_079414.3 Q86XN7 CM023_HUMAN proline and serine rich 1 468 Ser-rich. GCAGACAAAAGAGGACTGTTC 0.498000 17 43 0 0 1 0 0 HK2 3099 broad.mit.edu 37 2 75115036 75115036 + Missense_Mutation SNP G G T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr2:75115036G>T ENST00000290573.2 + 16 2826 c.2226G>T c.(2224-2226)gaG>gaT p.E742D HK2_ENST00000409174.1_Missense_Mutation_p.E714D NM_000189.4 NP_000180.2 P52789 HXK2_HUMAN hexokinase 2 742 Catalytic.|Substrate 2 binding. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 43 GCAGGTTCGAGAAAATGATCA 0.507000 16 46 4.96729e-08 5.22645e-08 1 1 0 ABHD16A 7920 broad.mit.edu 37 6 31657389 31657389 + Silent SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr6:31657389G>A ENST00000375842.4 - 12 1379 c.393C>T c.(391-393)atC>atT p.I131I ABHD16A_ENST00000395952.3_Silent_p.I350I|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000440843.2_Silent_p.I317I|ABHD16A_ENST00000471644.1_5'UTR O95870 ABHGA_HUMAN abhydrolase domain containing 16A 350 integral to membrane hydrolase activity|protein binding endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 10 AGGCGTAGATGATGATGTCCT 0.612000 3 8 0 0 1 0 0 RTL1 388015 broad.mit.edu 37 14 101349355 101349355 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr14:101349355C>T ENST00000534062.1 - 1 1829 c.1771G>A c.(1771-1773)Gag>Aag p.E591K MIR127_ENST00000384876.1_RNA NM_001134888.2 NP_001128360.1 E9PKS8 E9PKS8_HUMAN retrotransposon-like 1 591 breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21 TCAGAGGGCTCTGATTCAGAA 0.562000 12 27 0 0 1 0 0 ABHD16A 7920 broad.mit.edu 37 6 31657895 31657895 + Nonsense_Mutation SNP G G T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr6:31657895G>T ENST00000375842.4 - 11 1246 c.260C>A c.(259-261)tCa>tAa p.S87* ABHD16A_ENST00000395952.3_Nonsense_Mutation_p.S306*|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000440843.2_Nonsense_Mutation_p.S273*|ABHD16A_ENST00000471644.1_5'UTR O95870 ABHGA_HUMAN abhydrolase domain containing 16A 306 integral to membrane hydrolase activity|protein binding endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 10 GCCCAGGACTGAATATCCAGC 0.552000 10 21 0.000442599 0.000453852 1 1 0 CCDC130 81576 broad.mit.edu 37 19 13873643 13873643 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr19:13873643G>A ENST00000586600.1 + 11 1455 c.952G>A c.(952-954)Gaa>Aaa p.E318K CCDC130_ENST00000221554.8_Missense_Mutation_p.E318K|CCDC130_ENST00000587019.1_3'UTR P13994 CC130_HUMAN coiled-coil domain containing 130 318 response to virus protein binding endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1) 10 OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18) CAAGTCTGGGGAACCGCGGGT 0.706000 7 8 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46264448 46264448 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr20:46264448C>G ENST00000372004.3 + 11 1711 c.1495C>G c.(1495-1497)Cct>Gct p.P499A NCOA3_ENST00000371998.3_Missense_Mutation_p.P499A|NCOA3_ENST00000371997.3_Missense_Mutation_p.P509A|NCOA3_ENST00000341724.6_Missense_Mutation_p.P509A NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 499 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 TCAGTTTTCTCCTGTTGCAGG 0.368000 11 35 0 0 1 0 0 TUBG1 7283 broad.mit.edu 37 17 40766015 40766015 + Splice_Site SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr17:40766015C>T ENST00000251413.3 + 8 904 c.842C>T c.(841-843)tCa>tTa p.S281L NM_001070.4 NP_001061.2 P23258 TBG1_HUMAN tubulin, gamma 1 281 G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.129) ACGGACCAGTCAGTAAGAGCA 0.612000 40 115 0 0 1 0 0 RIPK1 8737 broad.mit.edu 37 6 3113468 3113468 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr6:3113468G>A ENST00000259808.4 + 11 2209 c.1911G>A c.(1909-1911)atG>atA p.M637I RIPK1_ENST00000541791.1_Missense_Mutation_p.M591I|RIPK1_ENST00000380409.2_Missense_Mutation_p.M637I Q13546 RIPK1_HUMAN receptor (TNFRSF)-interacting serine-threonine kinase 1 637 Death. activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 23 Ovarian(93;0.0386) all_hematologic(90;0.0895) AGTGGGTGATGAGGGAAGGCA 0.512000 10 19 0 0 1 0 0 CEACAM4 1089 broad.mit.edu 37 19 42132106 42132106 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr19:42132106C>T ENST00000221954.2 - 2 403 c.293G>A c.(292-294)cGa>cAa p.R98Q CEACAM4_ENST00000600925.1_Missense_Mutation_p.R98Q NM_001817.2 NP_001808.2 O75871 CEAM4_HUMAN carcinoembryonic antigen-related cell adhesion molecule 4 98 Ig-like V-type. integral to plasma membrane|membrane fraction NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1) 16 TACTGTCTCTCGACCACTGTA 0.493000 28 82 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 134034346 134034346 + Silent SNP C C T rs140927008 TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr8:134034346C>T ENST00000220616.4 + 40 7027 c.6987C>T c.(6985-6987)atC>atT p.I2329I TG_ENST00000377869.1_Silent_p.I2272I|TG_ENST00000519543.1_Silent_p.I462I|TG_ENST00000542445.1_Silent_p.I699I NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 2329 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity p.I2329I(1) NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GCAACCTCATCGTGGTCACTG 0.597000 19 138 0 0 1 0 0 LAMA4 3910 broad.mit.edu 37 6 112493992 112493992 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr6:112493992C>T ENST00000230538.7 - 12 1769 c.1372G>A c.(1372-1374)Gag>Aag p.E458K LAMA4_ENST00000389463.4_Missense_Mutation_p.E451K|LAMA4_ENST00000522006.1_Missense_Mutation_p.E451K|LAMA4_ENST00000424408.2_Missense_Mutation_p.E451K NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 458 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TGCCAGCTCTCAGCCTGGCTC 0.512000 3 20 0 0 1 0 0 RHOT2 89941 broad.mit.edu 37 16 721202 721202 + Splice_Site SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr16:721202C>T ENST00000315082.4 + 11 982 c.868C>T c.(868-870)Ctg>Ttg p.L290L NM_138769.2 NP_620124.1 Q8IXI1 MIRO2_HUMAN ras homolog family member T2 290 apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane calcium ion binding|GTP binding|GTPase activity|protein binding endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1) 13 Hepatocellular(780;0.0218) TCTCTCCCCTCTGTGAGTGAT 0.652000 21 59 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109812122 109812122 + Missense_Mutation SNP G G T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr1:109812122G>T ENST00000271332.3 + 21 6950 c.6889G>T c.(6889-6891)Gcc>Tcc p.A2297S NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 2297 dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) TCTGCCCCGGGCCCTGGACAA 0.597000 12 34 6.40141e-05 6.62026e-05 1 1 0 RNF17 56163 broad.mit.edu 37 13 25399909 25399909 + Splice_Site SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr13:25399909C>T ENST00000255324.5 + 16 2296 c.2244C>T c.(2242-2244)atC>atT p.I748I RNF17_ENST00000381921.1_Splice_Site_p.I748I NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 748 Tudor 1. multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) CAAAAGTTATCGGTAGGAGAA 0.368000 18 44 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32635568 32635568 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr9:32635568C>T ENST00000242310.4 - 1 99 c.10G>A c.(10-12)Ggc>Agc p.G4S RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 4 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) AAATCGCAGCCGGGTCGCATA 0.547000 39 20 0 0 1 0 0 ABCF3 55324 broad.mit.edu 37 3 183905743 183905743 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:183905743G>C ENST00000429586.2 + 6 726 c.541G>C c.(541-543)Gag>Cag p.E181Q ABCF3_ENST00000292808.5_Missense_Mutation_p.E175Q|EIF2B5_ENST00000444495.1_Intron NM_018358.2 NP_060828.2 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), member 3 181 ABC transporter 1. ATP binding|ATPase activity p.E181Q(1) breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1) 39 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TGTGCGAATTGAGAACTTTGA 0.463000 24 88 0 0 1 0 0 ELANE 1991 broad.mit.edu 37 19 852912 852912 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr19:852912G>C ENST00000590230.1 + 3 245 c.104G>C c.(103-105)cGa>cCa p.R35P ELANE_ENST00000263621.1_Missense_Mutation_p.R35P P08246 ELNE_HUMAN elastase, neutrophil expressed 35 Peptidase S1. cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV cell surface|extracellular region|stored secretory granule bacterial cell surface binding|cytokine binding|heparin binding breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1) 13 Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019) GGGGGCCGGCGAGCGCGGCCC 0.726000 6 20 0 0 1 0 0 C2orf71 388939 broad.mit.edu 37 2 29294896 29294896 + Silent SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr2:29294896C>G ENST00000331664.5 - 1 2231 c.2232G>C c.(2230-2232)ctG>ctC p.L744L NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 744 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 CCAGCATCCTCAGACTCTCCG 0.552000 13 32 0 0 1 0 0 RHBDF1 64285 broad.mit.edu 37 16 113018 113018 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr16:113018C>G ENST00000262316.6 - 5 767 c.625G>C c.(625-627)Gag>Cag p.E209Q RHBDF1_ENST00000454039.2_Missense_Mutation_p.E209Q NM_022450.3 NP_071895.3 Q96CC6 RHDF1_HUMAN rhomboid 5 homolog 1 (Drosophila) 209 cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane growth factor binding|serine-type endopeptidase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 18 all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159) GCCACCGACTCTCGCTTGCGC 0.706000 13 25 0 0 1 0 0 ABHD16A 7920 broad.mit.edu 37 6 31655465 31655465 + Silent SNP G G T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr6:31655465G>T ENST00000375842.4 - 18 1829 c.843C>A c.(841-843)ctC>ctA p.L281L ABHD16A_ENST00000395952.3_Silent_p.L500L|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000440843.2_Silent_p.L467L|ABHD16A_ENST00000471644.1_5'UTR O95870 ABHGA_HUMAN abhydrolase domain containing 16A 500 integral to membrane hydrolase activity|protein binding endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 10 GGTAGGAGCGGAGGACAGACA 0.607000 6 30 0.0215528 0.0217777 1 1 0 AIM1 202 broad.mit.edu 37 6 106967276 106967276 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr6:106967276G>C ENST00000369066.3 + 2 1456 c.969G>C c.(967-969)aaG>aaC p.K323N NM_001624.2 NP_001615 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 323 sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) AACCTGAAAAGAAAGTAATGC 0.443000 14 31 0 0 1 0 0 SEC63 11231 broad.mit.edu 37 6 108279136 108279136 + Silent SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr6:108279136G>A ENST00000369002.4 - 1 257 c.78C>T c.(76-78)atC>atT p.I26I SEC63_ENST00000460009.1_5'UTR|RP1-191J18.66_ENST00000606070.1_RNA NM_007214.4 NP_009145.1 Q9UGP8 SEC63_HUMAN SEC63 homolog (S. cerevisiae) 26 protein folding|protein targeting to membrane endoplasmic reticulum membrane|integral to membrane heat shock protein binding|receptor activity|unfolded protein binding endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294) BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054) CCGGGATCACGATGAGCCCCA 0.667000 14 41 0 0 1 0 0 IRX5 10265 broad.mit.edu 37 16 54966809 54966809 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr16:54966809G>A ENST00000394636.4 + 2 986 c.649G>A c.(649-651)Gaa>Aaa p.E217K IRX5_ENST00000558597.1_Missense_Mutation_p.E151K|IRX5_ENST00000560154.1_Intron|IRX5_ENST00000320990.5_Missense_Mutation_p.E217K P78411 IRX5_HUMAN iroquois homeobox 5 217 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding kidney(3)|large_intestine(6)|lung(4)|prostate(1) 14 CGAGGGCCCCGAAGCAGGTTG 0.652000 55 109 0 0 1 0 0 SLC2A7 155184 broad.mit.edu 37 1 9078298 9078298 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr1:9078298G>C ENST00000400906.1 - 5 572 c.573C>G c.(571-573)atC>atG p.I191M NM_207420.2 NP_997303.2 Q6PXP3 GTR7_HUMAN solute carrier family 2 (facilitated glucose transporter), member 7 191 integral to membrane|plasma membrane sugar transmembrane transporter activity NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2) 24 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) GGTTGCCCAAGATGGCCTGGA 0.577000 14 33 0 0 1 0 0 PITX3 5309 broad.mit.edu 37 10 103991486 103991486 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr10:103991486C>G ENST00000370002.3 - 3 333 c.180G>C c.(178-180)aaG>aaC p.K60N PITX3_ENST00000539804.1_Missense_Mutation_p.K60N NM_005029.3 NP_005020.1 O75364 PITX3_HUMAN paired-like homeodomain 3 60 dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(2) 5 Colorectal(252;0.00957) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) GCCGCTGCTTCTTTTTCAGCG 0.667000 8 2 0 0 1 0 0 SSH2 85464 broad.mit.edu 37 17 27959822 27959822 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr17:27959822C>G ENST00000269033.3 - 15 2460 c.2309G>C c.(2308-2310)gGa>gCa p.G770A RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.G797A NM_001282129.1|NM_033389.2 NP_001269058.1|NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 770 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TAAGATGTCTCCTTTCAGTTG 0.453000 8 15 0 0 1 0 0 PTPRO 5800 broad.mit.edu 37 12 15636938 15636938 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr12:15636938G>A ENST00000281171.4 + 2 436 c.106G>A c.(106-108)Gat>Aat p.D36N PTPRO_ENST00000348962.2_Missense_Mutation_p.D36N|PTPRO_ENST00000543886.1_Missense_Mutation_p.D36N NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 36 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) AACTGTCCAAGATGATAATAA 0.343000 11 16 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151878254 151878254 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr7:151878254C>G ENST00000355193.2 - 36 6909 c.6691G>C c.(6691-6693)Gag>Cag p.E2231Q KMT2C_ENST00000262189.6_Missense_Mutation_p.E2231Q lysine (K)-specific methyltransferase 2C GTAAAACCCTCTGAAATCCTT 0.507000 8 31 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25380275 25380275 + Missense_Mutation SNP T T A rs17851045 TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr12:25380275T>A ENST00000311936.3 - 3 374 c.183A>T c.(181-183)caA>caT p.Q61H KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61H NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 61 Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; 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.Q61H(153) 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) TGTACTCCTCTTGACCTGCTG 0.423000 Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 28 27 0 0 1 0 0 OR6M1 390261 broad.mit.edu 37 11 123676459 123676459 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr11:123676459G>A ENST00000309154.2 - 1 636 c.599C>T c.(598-600)tCt>tTt p.S200F NM_001005325.1 NP_001005325.1 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, member 1 200 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1) 29 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) GACAAGGGCAGAGAGGAGAAA 0.463000 9 16 0 0 1 0 0 DNAJC2 27000 broad.mit.edu 37 7 102960085 102960085 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr7:102960085C>T ENST00000379263.3 - 12 1463 c.1213G>A c.(1213-1215)Gaa>Aaa p.E405K DNAJC2_ENST00000249270.7_Intron|PMPCB_ENST00000420236.2_Intron NM_014377.1 NP_055192.1 Q99543 DNJC2_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 2 405 'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1) 21 TTTCCTACTTCTTTTGTGCAT 0.353000 6 21 0 0 1 0 0 NSUN3 63899 broad.mit.edu 37 3 93783294 93783294 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:93783294C>T ENST00000314622.4 + 2 237 c.26C>T c.(25-27)tCa>tTa p.S9L NSUN3_ENST00000485793.1_3'UTR NM_022072.3 NP_071355.1 Q9H649 NSUN3_HUMAN NOP2/Sun domain family, member 3 9 methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1) 18 AAAGCAAAATCAGAGGGGAAG 0.358000 3 19 0 0 1 0 0 KIF15 56992 broad.mit.edu 37 3 44867555 44867555 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:44867555G>C ENST00000326047.4 + 21 2723 c.2574G>C c.(2572-2574)gaG>gaC p.E858D KIF15_ENST00000425755.1_Missense_Mutation_p.E493D NM_020242.2 NP_064627.1 Q9NS87 KIF15_HUMAN kinesin family member 15 858 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) AGCTGCTTGAGAGCAAAGCCT 0.303000 10 30 0 0 1 0 0 ADAM19 8728 broad.mit.edu 37 5 156997912 156997912 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr5:156997912C>T ENST00000257527.4 - 2 249 c.171G>A c.(169-171)gtG>gtA p.V57V ADAM19_ENST00000394020.1_Silent_p.V59V|ADAM19_ENST00000517905.1_Silent_p.V57V|ADAM19_ENST00000430702.2_5'UTR NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 57 proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCTTTTCTCTCACGGGGCTTT 0.468000 10 41 0 0 1 0 0 ZBED4 9889 broad.mit.edu 37 22 50279822 50279822 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr22:50279822G>A ENST00000216268.5 + 2 2989 c.2512G>A c.(2512-2514)Gag>Aag p.E838K NM_014838.2 NP_055653.2 O75132 ZBED4_HUMAN zinc finger, BED-type containing 4 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) GATCGTCAGCGAGGCCATTAA 0.627000 8 19 0 0 1 0 0 ABHD16A 7920 broad.mit.edu 37 6 31655472 31655472 + Missense_Mutation SNP G G T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr6:31655472G>T ENST00000375842.4 - 18 1822 c.836C>A c.(835-837)tCt>tAt p.S279Y ABHD16A_ENST00000395952.3_Missense_Mutation_p.S498Y|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000440843.2_Missense_Mutation_p.S465Y|ABHD16A_ENST00000471644.1_5'UTR O95870 ABHGA_HUMAN abhydrolase domain containing 16A 498 integral to membrane hydrolase activity|protein binding endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 10 GCGGAGGACAGACAGACACCA 0.622000 7 31 0.0293803 0.0296252 1 1 0 NBPF15 284565 broad.mit.edu 37 1 148594513 148594513 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr1:148594513G>A ENST00000442702.2 + 21 2953 c.1886G>A c.(1885-1887)aGa>aAa p.R629K NBPF15_ENST00000369187.3_Missense_Mutation_p.R629K NM_001170755.1 NP_001164226.1 Q8N660 NBPFF_HUMAN neuroblastoma breakpoint family, member 15 629 NBPF 6. cytoplasm NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_hematologic(923;0.032) CAGCACTACAGAAGTGTGTTT 0.438000 61 176 0 0 1 0 0 FRMD4A 55691 broad.mit.edu 37 10 13749043 13749043 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr10:13749043G>A ENST00000357447.2 - 13 1198 c.830C>T c.(829-831)cCa>cTa p.P277L FRMD4A_ENST00000342409.2_Missense_Mutation_p.P293L|FRMD4A_ENST00000492155.1_5'UTR|FRMD4A_ENST00000378503.1_Missense_Mutation_p.P277L|FRMD4A_ENST00000358621.4_Missense_Mutation_p.P262L NM_018027.3 NP_060497.3 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 277 FERM. cytoplasm|cytoskeleton binding breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 41 TTACCTGCGTGGGTCATGAAC 0.458000 7 22 0 0 1 0 0 EPHA2 1969 broad.mit.edu 37 1 16460034 16460034 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr1:16460034C>T ENST00000358432.5 - 10 1960 c.1806G>A c.(1804-1806)ttG>ttA p.L602L NM_004431.3 NP_004422.2 P29317 EPHA2_HUMAN EPH receptor A2 602 activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) TAGTGAACTTCAACACAGCCT 0.597000 9 29 0 0 1 0 0 GBX2 2637 broad.mit.edu 37 2 237075028 237075028 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr2:237075028C>T ENST00000551105.1 - 3 650 c.613G>A c.(613-615)Gaa>Aaa p.E205K GBX2_ENST00000465889.1_5'UTR|GBX2_ENST00000306318.4_Silent_p.P192P P52951 GBX2_HUMAN gastrulation brain homeobox 2 0 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179) Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471) CCTTGCCCTTCGGGTCGTCTT 0.562000 25 73 0 0 1 0 0 ZNF282 8427 broad.mit.edu 37 7 148895581 148895581 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr7:148895581G>A ENST00000262085.3 + 2 427 c.322G>A c.(322-324)Gtg>Atg p.V108M ZNF282_ENST00000479907.1_Missense_Mutation_p.V108M NM_003575.2 NP_003566.1 Q9UDV7 ZN282_HUMAN zinc finger protein 282 108 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 17 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) Lung(243;0.145) CATTCAGGCTGTGGAGAGGAA 0.627000 11 28 0 0 1 0 0 PEAK1 79834 broad.mit.edu 37 15 77472113 77472113 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr15:77472113G>A ENST00000560626.2 - 4 2631 c.2156C>T c.(2155-2157)tCa>tTa p.S719L PEAK1_ENST00000558305.1_Missense_Mutation_p.S719L|PEAK1_ENST00000312493.4_Missense_Mutation_p.S719L Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 719 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding TCTCTGTGGTGAAGACTGACC 0.483000 20 69 0 0 1 0 0 PTPRN2 5799 broad.mit.edu 37 7 157369412 157369412 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr7:157369412C>T ENST00000389413.3 - 18 2692 c.2589G>A c.(2587-2589)ctG>ctA p.L863L PTPRN2_ENST00000389418.4_Silent_p.L892L|PTPRN2_ENST00000389416.4_Silent_p.L875L|PTPRN2_ENST00000409483.1_Silent_p.L854L|PTPRN2_ENST00000404321.2_Silent_p.L915L NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 892 Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) GCAGGTTCTTCAGATAGAAGC 0.592000 3 7 0 0 1 0 0 ZKSCAN5 23660 broad.mit.edu 37 7 99104064 99104064 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr7:99104064G>C ENST00000394170.2 + 2 648 c.397G>C c.(397-399)Gag>Cag p.E133Q ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.E133Q|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.E133Q NM_014569.3 NP_055384.1 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 133 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) GCGAGAACTTGAGGAACGCAG 0.517000 8 25 0 0 1 0 0 ENDOV 284131 broad.mit.edu 37 17 78399393 78399393 + Missense_Mutation SNP G G T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr17:78399393G>T ENST00000518137.1 + 7 715 c.687G>T c.(685-687)agG>agT p.R229S ENDOV_ENST00000522751.1_Missense_Mutation_p.R35S|ENDOV_ENST00000520284.1_Missense_Mutation_p.R35S|ENDOV_ENST00000517795.1_Missense_Mutation_p.R35S|ENDOV_ENST00000323854.5_Missense_Mutation_p.R184S|ENDOV_ENST00000520367.1_Missense_Mutation_p.R184S|ENDOV_ENST00000518907.1_Missense_Mutation_p.R35S|ENDOV_ENST00000517295.2_Missense_Mutation_p.R157S|ENDOV_ENST00000518901.1_Missense_Mutation_p.R35S NM_173627.3 NP_775898.2 Q8N8Q3 ENDOV_HUMAN endonuclease V 229 DNA repair endodeoxyribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding endometrium(1)|lung(1)|pancreas(1)|prostate(1) 4 GCTGCTGCAGGTTCCGGATCC 0.687000 Direct reversal of damage 4 7 0.00909568 0.00924855 1 1 0 OR10H2 26538 broad.mit.edu 37 19 15839117 15839117 + Silent SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr19:15839117C>G ENST00000305899.3 + 1 284 c.264C>G c.(262-264)acC>acG p.T88T NM_013939.2 NP_039227.1 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, member 2 88 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1) 27 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) TGCTGTCCACCCAGCGCTCCA 0.612000 11 31 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57325507 57325507 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr19:57325507C>T ENST00000326441.9 - 10 4666 c.4303G>A c.(4303-4305)Gag>Aag p.E1435K ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E1311K|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E1435K|PEG3_ENST00000593695.1_Missense_Mutation_p.E1309K|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1435 4 X 5 AA repeat of P-X-G-E-A.|Glu-rich. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 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) TGTCCAGCCTCTCCAATGGGC 0.587000 17 40 0 0 1 0 0 HERC5 51191 broad.mit.edu 37 4 89407344 89407344 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr4:89407344G>C ENST00000264350.3 + 14 1969 c.1816G>C c.(1816-1818)Gaa>Caa p.E606Q HERC5_ENST00000508159.1_Missense_Mutation_p.E244Q NM_016323.3 NP_057407.2 Q9UII4 HERC5_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 5 606 innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4) 53 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) TTTTTTTGTAGAAGTATGCAG 0.363000 10 36 0 0 1 0 0 SMC1A 8243 broad.mit.edu 37 X 53409191 53409191 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chrX:53409191C>G ENST00000322213.4 - 22 3526 c.3399G>C c.(3397-3399)aaG>aaC p.K1133N SMC1A_ENST00000469129.1_5'UTR NM_006306.2 NP_006297.2 Q14683 SMC1A_HUMAN structural maintenance of chromosomes 1A 1133 Ala/Asp-rich (DA-box). cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2) 49 CTGCCACTGTCTTCTCCCCGC 0.572000 20 12 0 0 1 0 0 RAC1 5879 broad.mit.edu 37 7 6431634 6431634 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr7:6431634G>A ENST00000348035.4 + 3 400 c.187G>A c.(187-189)Gat>Aat p.D63N RAC1_ENST00000356142.4_Missense_Mutation_p.D63N|RAC1_ENST00000488373.1_3'UTR NM_006908.4 NP_008839.2 P63000 RAC1_HUMAN ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) 63 D -> G (in dbSNP:rs5831). actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction cytosol|melanosome|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 8 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.104) Pravastatin(DB00175)|Simvastatin(DB00641) TGGACAAGAAGATTATGACAG 0.393000 13 38 0 0 1 0 0 SPAST 6683 broad.mit.edu 37 2 32289061 32289061 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr2:32289061C>G ENST00000315285.3 + 1 286 c.161C>G c.(160-162)tCc>tGc p.S54C SPAST_ENST00000345662.1_Missense_Mutation_p.S54C NM_014946.3 NP_055761.2 Q9UBP0 SPAST_HUMAN spastin 54 Required for interaction with ATL1.|Required for interaction with RTN1.|Required for interaction with SSNA1 and microtubules.|Required for midbody localization. cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TACTATTTCTCCTACCCGCTG 0.701000 3 24 0 0 1 0 0 CXXC11 285093 broad.mit.edu 37 2 242814595 242814595 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr2:242814595C>T ENST00000343216.3 + 2 916 c.888C>T c.(886-888)ctC>ctT p.L296L NM_173821.2 NP_776182.2 Q14D33 CB085_HUMAN CXXC finger protein 11 296 integral to membrane GGGGCTCCCTCTGCAGCCCGG 0.657000 16 50 0 0 1 0 0 ICAM1 3383 broad.mit.edu 37 19 10395089 10395089 + Silent SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr19:10395089G>A ENST00000264832.3 + 5 1261 c.936G>A c.(934-936)gcG>gcA p.A312A ICAM1_ENST00000423829.2_Silent_p.A90A|CTD-2369P2.5_ENST00000592893.1_RNA NM_000201.2 NP_000192.2 P05362 ICAM1_HUMAN intercellular adhesion molecule 1 312 adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor extracellular space|integral to plasma membrane integrin binding|transmembrane receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06) Natalizumab(DB00108)|Simvastatin(DB00641) GCTTTCCGGCGCCCAACGTGA 0.612000 24 63 0 0 1 0 0 TMEM33 55161 broad.mit.edu 37 4 41946903 41946903 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr4:41946903G>A ENST00000504986.1 + 5 855 c.490G>A c.(490-492)Gaa>Aaa p.E164K TMEM33_ENST00000325094.5_Missense_Mutation_p.E164K|TMEM33_ENST00000513702.1_Missense_Mutation_p.E164K NM_018126.2 NP_060596.2 P57088 TMM33_HUMAN transmembrane protein 33 164 integral to membrane|melanosome protein binding endometrium(1)|large_intestine(3)|lung(4)|ovary(1) 9 TGCTTGCAATGAAATATTCCT 0.348000 9 23 0 0 1 0 0 OBP2A 29991 broad.mit.edu 37 9 138439746 138439746 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr9:138439746G>C ENST00000539850.1 + 4 333 c.307G>C c.(307-309)Gag>Cag p.E103Q OBP2A_ENST00000340780.3_Missense_Mutation_p.E103Q|OBP2A_ENST00000342114.4_Missense_Mutation_p.G58A|OBP2A_ENST00000371776.1_Missense_Mutation_p.E103Q Q9NY56 OBP2A_HUMAN odorant binding protein 2A 103 response to stimulus|sensory perception of smell extracellular region odorant binding|transporter activity endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05) ATACCTGCAGGAGCTGCCCGG 0.602000 16 20 0 0 1 0 0 PYGO1 26108 broad.mit.edu 37 15 55838477 55838477 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr15:55838477G>A ENST00000302000.6 - 3 1098 c.1004C>T c.(1003-1005)tCg>tTg p.S335L PYGO1_ENST00000563719.1_Missense_Mutation_p.S335L NM_015617.1 NP_056432.1 Q9Y3Y4 PYGO1_HUMAN pygopus family PHD finger 1 335 Wnt receptor signaling pathway nucleus zinc ion binding endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18) GTCAGAAGACGAATGGCCATG 0.473000 37 100 0 0 1 0 0 SPTBN1 6711 broad.mit.edu 37 2 54859802 54859802 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr2:54859802G>C ENST00000333896.5 + 16 4010 c.3625G>C c.(3625-3627)Gag>Cag p.E1209Q SPTBN1_ENST00000356805.4_Missense_Mutation_p.E1222Q NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 1222 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) GGACGCCAATGAGGAGAAGAT 0.507000 10 26 0 0 1 0 0 ZNF226 7769 broad.mit.edu 37 19 44679701 44679701 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr19:44679701G>C ENST00000590089.1 + 7 653 c.286G>C c.(286-288)Gaa>Caa p.E96Q ZNF226_ENST00000337433.5_Missense_Mutation_p.E96Q|ZNF226_ENST00000454662.2_Missense_Mutation_p.E96Q|ZNF226_ENST00000588883.1_3'UTR Q9NYT6 ZN226_HUMAN zinc finger protein 226 96 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding Prostate(69;0.0352)|all_neural(266;0.202) AGAATCAGAAGAAGAGCTTTC 0.353000 4 24 0 0 1 0 0 TST 7263 broad.mit.edu 37 22 37407283 37407283 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr22:37407283C>G ENST00000403892.3 - 2 1413 c.679G>C c.(679-681)Gaa>Caa p.E227Q TST_ENST00000249042.3_Missense_Mutation_p.E227Q NM_001270483.1 NP_001257412.1 Q16762 THTR_HUMAN thiosulfate sulfurtransferase (rhodanese) 227 Rhodanese 2. cyanate catabolic process|rRNA transport mitochondrial matrix|plasma membrane 5S rRNA binding|thiosulfate sulfurtransferase activity kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1) 7 CGGAGCTCTTCTGGGCCCTTC 0.612000 10 21 0 0 1 0 0 MAP3K10 4294 broad.mit.edu 37 19 40715101 40715101 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr19:40715101C>T ENST00000253055.3 + 6 1815 c.1527C>T c.(1525-1527)atC>atT p.I509I NM_002446.3 NP_002437.2 Q02779 M3K10_HUMAN mitogen-activated protein kinase kinase kinase 10 509 activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway cytoplasm ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 GCCCCAGCATCATCCCCCGGC 0.547000 15 42 0 0 1 0 0 EXOC3L4 91828 broad.mit.edu 37 14 103566869 103566869 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr14:103566869G>A ENST00000380069.3 + 1 389 c.313G>A c.(313-315)Gag>Aag p.E105K NM_001077594.1 NP_001071062.1 Q17RC7 EX3L4_HUMAN exocyst complex component 3-like 4 105 cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1) 10 GGCCACTCCTGAGGTGCCCTC 0.627000 4 17 0 0 1 0 0 ADH1B 125 broad.mit.edu 37 4 100235052 100235052 + Nonsense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr4:100235052G>A ENST00000305046.8 - 6 821 c.754C>T c.(754-756)Cag>Tag p.Q252* ADH1B_ENST00000394887.3_Nonsense_Mutation_p.Q212* P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide 252 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) AGCACTTCCTGAATGGGTTTC 0.458000 62 174 0 0 1 0 0 CCDC144A 9720 broad.mit.edu 37 17 16612182 16612182 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr17:16612182C>T ENST00000443444.2 + 5 951 c.811C>T c.(811-813)Cat>Tat p.H271Y CCDC144A_ENST00000360524.8_Missense_Mutation_p.H271Y|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.H271Y|CCDC144A_ENST00000340621.5_Missense_Mutation_p.H270Y|CCDC144A_ENST00000456009.1_Intron|CCDC144A_ENST00000399273.1_Missense_Mutation_p.H271Y A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 271 AGTACTTCCTCATGTGCAAAA 0.368000 10 42 0 0 1 0 0 COX15 1355 broad.mit.edu 37 10 101487208 101487208 + Nonsense_Mutation SNP C C A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr10:101487208C>A ENST00000370483.5 - 3 435 c.385G>T c.(385-387)Gaa>Taa p.E129* CUTC_ENST00000493385.1_Intron|COX15_ENST00000016171.5_Nonsense_Mutation_p.E129* NM_004376.5|NM_078470.4 NP_004367.2|NP_510870.1 Q7KZN9 COX15_HUMAN cytochrome c oxidase assembly homolog 15 (yeast) 129 heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Colorectal(252;0.234) Epithelial(162;3.08e-10)|all cancers(201;2.43e-08) ATTTTAAATTCTGGAAATTGC 0.378000 4 33 0.150653 0.150965 1 1 0 OBSCN 84033 broad.mit.edu 37 1 228474535 228474535 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr1:228474535G>C ENST00000570156.2 + 40 10700 c.10626G>C c.(10624-10626)ttG>ttC p.L3542F OBSCN_ENST00000366709.4_Missense_Mutation_p.L232F|OBSCN_ENST00000366707.4_Missense_Mutation_p.L232F|OBSCN_ENST00000359599.6_Missense_Mutation_p.L1960F|OBSCN_ENST00000284548.11_Missense_Mutation_p.L3113F|OBSCN_ENST00000422127.1_Missense_Mutation_p.L3113F NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 2575 Ig-like 36. 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) GTGAGGACTTGACCCTGGTGT 0.617000 13 41 0 0 1 0 0 LRRC56 115399 broad.mit.edu 37 11 552575 552575 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr11:552575C>T ENST00000270115.7 + 13 1688 c.1188C>T c.(1186-1188)ctC>ctT p.L396L NM_198075.3 NP_932341.1 Q8IYG6 LRC56_HUMAN leucine rich repeat containing 56 396 kidney(1)|lung(4)|skin(1) 6 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) CTAGCCCCCTCCCCTATAGGC 0.652000 5 8 0 0 1 0 0 ABCA8 10351 broad.mit.edu 37 17 66902287 66902287 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr17:66902287C>G ENST00000269080.2 - 17 2313 c.2176G>C c.(2176-2178)Gat>Cat p.D726H ABCA8_ENST00000586539.1_Missense_Mutation_p.D766H|ABCA8_ENST00000430352.2_Missense_Mutation_p.D766H NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 726 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.D726Y(1) breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) GGATAGCTATCAAGATCCTTG 0.313000 12 20 0 0 1 0 0 SOX4 6659 broad.mit.edu 37 6 21595094 21595094 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr6:21595094G>C ENST00000244745.1 + 1 1123 c.329G>C c.(328-330)cGa>cCa p.R110P SOX4_ENST00000543472.1_Missense_Mutation_p.R110P NM_003107.2 NP_003098.1 Q06945 SOX4_HUMAN SRY (sex determining region Y)-box 4 110 canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation mitochondrion|nucleus core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 6 Ovarian(93;0.163) all cancers(50;0.0751)|Epithelial(50;0.155) CCTTTCATTCGAGAGGCGGAG 0.597000 6 16 0 0 1 0 0 PCDHB5 26167 broad.mit.edu 37 5 140517198 140517198 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr5:140517198G>A ENST00000231134.5 + 1 2399 c.2182G>A c.(2182-2184)Gag>Aag p.E728K NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 728 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTCGGTGCCCGAGGGCCCCTT 0.667000 43 157 0 0 1 0 0 OR10J1 26476 broad.mit.edu 37 1 159410479 159410479 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr1:159410479C>T ENST00000423932.3 + 1 968 c.931C>T c.(931-933)Ctg>Ttg p.L311L RP11-550P17.5_ENST00000431862.1_RNA NM_012351.2 NP_036483.2 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, member 1 311 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) CAAAGATGCTCTGTGCAGGGC 0.488000 17 39 0 0 1 0 0 DZIP1L 199221 broad.mit.edu 37 3 137787080 137787080 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:137787080G>A ENST00000327532.2 - 13 2107 c.1745C>T c.(1744-1746)tCc>tTc p.S582F NM_173543.2 NP_775814.2 Q8IYY4 DZI1L_HUMAN DAZ interacting zinc finger protein 1-like 582 intracellular zinc ion binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1) 35 GGTCAGGCTGGAGCCATGGCT 0.692000 18 48 0 0 1 0 0 SOX30 11063 broad.mit.edu 37 5 157078940 157078940 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr5:157078940C>T ENST00000265007.6 - 1 488 c.147G>A c.(145-147)gcG>gcA p.A49A SOX30_ENST00000311371.5_Silent_p.A49A|SOX30_ENST00000519442.1_Intron NM_178424.1 NP_848511.1 O94993 SOX30_HUMAN SRY (sex determining region Y)-box 30 49 regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 23 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGGCCAAGGTCGCACTGGCTG 0.711000 3 2 0 0 1 0 0 GOLIM4 27333 broad.mit.edu 37 3 167812963 167812963 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:167812963C>T ENST00000470487.1 - 1 800 c.111G>A c.(109-111)caG>caA p.Q37Q GOLIM4_ENST00000309027.4_Silent_p.Q37Q NM_014498.3 NP_055313.1 O00461 GOLI4_HUMAN golgi integral membrane protein 4 37 transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 GCAGCTGCGTCTGCAGCTCGT 0.622000 7 25 0 0 1 0 0 PPP6R3 55291 broad.mit.edu 37 11 68343463 68343463 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr11:68343463C>T ENST00000393799.2 + 14 1764 c.1497C>T c.(1495-1497)ttC>ttT p.F499F PPP6R3_ENST00000265636.5_Silent_p.F448F|PPP6R3_ENST00000393801.3_Silent_p.F499F|PPP6R3_ENST00000524904.1_Silent_p.F499F|PPP6R3_ENST00000529710.1_Silent_p.F448F|PPP6R3_ENST00000393800.2_Silent_p.F499F|PPP6R3_ENST00000524845.1_Silent_p.F499F|PPP6R3_ENST00000534534.1_Silent_p.F267F|PPP6R3_ENST00000265637.4_Silent_p.F499F|PPP6R3_ENST00000527403.2_Silent_p.F499F Q5H9R7 PP6R3_HUMAN protein phosphatase 6, regulatory subunit 3 499 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 GGGAGACGTTCTGCACAAGCT 0.428000 11 44 0 0 1 0 0 TBX5 6910 broad.mit.edu 37 12 114793779 114793779 + Missense_Mutation SNP G G A rs143068551 by1000genomes TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr12:114793779G>A ENST00000310346.4 - 9 1781 c.1115C>T c.(1114-1116)tCg>tTg p.S372L TBX5_ENST00000405440.2_Missense_Mutation_p.S372L|TBX5_ENST00000349716.5_Missense_Mutation_p.S322L NM_000192.3 NP_000183.2 Q99593 TBX5_HUMAN T-box 5 372 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding p.S372L(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) CCGCTGTGCCGACTCTGTCCT 0.592000 16 73 0 0 1 0 0 RXRA 6256 broad.mit.edu 37 9 137328351 137328351 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr9:137328351C>T ENST00000540193.1 + 9 1912 c.989C>T c.(988-990)tCc>tTc p.S330F RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000481739.1_Missense_Mutation_p.S427F P19793 RXRA_HUMAN retinoid X receptor, alpha 427 Ligand-binding. cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) GCTCTGCGCTCCATCGGGCTC 0.607000 42 37 0 0 1 0 0 GRM2 2912 broad.mit.edu 37 3 51746773 51746773 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:51746773G>C ENST00000395052.3 + 3 969 c.735G>C c.(733-735)atG>atC p.M245I GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.M245I NM_000839.3 NP_000830.2 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 245 synaptic transmission integral to plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) GCCGTGCCATGAGCCGCGCGG 0.652000 4 25 0 0 1 0 0 ADAM20 8748 broad.mit.edu 37 14 70989893 70989893 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr14:70989893G>C ENST00000256389.3 - 2 1976 c.1732C>G c.(1732-1734)Cag>Gag p.Q578E RP11-486O13.4_ENST00000556646.1_lincRNA NM_003814.4 NP_003805.3 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 528 Cys-rich. proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2) 27 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) TAGCAACTCTGAGATGCACTC 0.408000 20 50 0 0 1 0 0 KIAA1161 57462 broad.mit.edu 37 9 34372277 34372277 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr9:34372277C>T ENST00000297625.7 - 2 788 c.563G>A c.(562-564)gGg>gAg p.G188E NM_020702.3 NP_065753.2 Q6NSJ0 K1161_HUMAN KIAA1161 222 carbohydrate metabolic process integral to membrane hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) GAGGATGCCCCCAAACGCGGC 0.652000 13 4 0 0 1 0 0 MYO1A 4640 broad.mit.edu 37 12 57423364 57423364 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr12:57423364G>A ENST00000442789.2 - 27 3019 c.2732C>T c.(2731-2733)tCt>tTt p.S911F MYO1A_ENST00000300119.3_Missense_Mutation_p.S911F|MYO1A_ENST00000544473.1_Missense_Mutation_p.S749F NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 911 sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 GAGAATCCGAGAAGAAGTCTA 0.552000 14 58 0 0 1 0 0 ZNF282 8427 broad.mit.edu 37 7 148895662 148895662 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr7:148895662G>A ENST00000262085.3 + 2 508 c.403G>A c.(403-405)Gac>Aac p.D135N ZNF282_ENST00000479907.1_Missense_Mutation_p.D135N NM_003575.2 NP_003566.1 Q9UDV7 ZN282_HUMAN zinc finger protein 282 135 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 17 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) Lung(243;0.145) GAAGCTGGCCGACTGTGAAAA 0.647000 16 63 0 0 1 0 0 CHERP 10523 broad.mit.edu 37 19 16652789 16652789 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr19:16652789C>G ENST00000546361.2 - 2 242 c.91G>C c.(91-93)Gag>Cag p.E31Q CHERP_ENST00000198939.6_Missense_Mutation_p.E31Q|CTD-3222D19.2_ENST00000409035.1_Intron NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 31 cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 GTCATCTTCTCAAACTCGGGC 0.542000 19 32 0 0 1 0 0 ZNF282 8427 broad.mit.edu 37 7 148895586 148895586 + Silent SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr7:148895586G>A ENST00000262085.3 + 2 432 c.327G>A c.(325-327)gaG>gaA p.E109E ZNF282_ENST00000479907.1_Silent_p.E109E NM_003575.2 NP_003566.1 Q9UDV7 ZN282_HUMAN zinc finger protein 282 109 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 17 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) Lung(243;0.145) AGGCTGTGGAGAGGAAGGTGG 0.622000 10 27 0 0 1 0 0 LAMC1 3915 broad.mit.edu 37 1 183087224 183087224 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr1:183087224C>G ENST00000258341.4 + 11 2190 c.1933C>G c.(1933-1935)Cag>Gag p.Q645E NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 645 Laminin IV type A. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTTTGAATTTCAGAAGCTCCT 0.403000 8 33 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76570876 76570876 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr17:76570876G>C ENST00000389840.5 - 2 388 c.264C>G c.(262-264)aaC>aaG p.N88K DNAH17_ENST00000585328.1_Missense_Mutation_p.N88K dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AGTTGTCCTTGTTGATGTTCT 0.592000 16 58 0 0 1 0 0 SSRP1 6749 broad.mit.edu 37 11 57094292 57094292 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr11:57094292G>A ENST00000278412.2 - 16 2209 c.1943C>T c.(1942-1944)tCa>tTa p.S648L RP11-872D17.4_ENST00000534162.1_RNA NM_003146.2 NP_003137.1 Q08945 SSRP1_HUMAN structure specific recognition protein 1 648 Ser-rich. DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|cytoplasm|nucleoplasm DNA binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4) 23 CGACTTGGATGATGAGCCCCT 0.468000 13 30 0 0 1 0 0 AMZ2 51321 broad.mit.edu 37 17 66250580 66250580 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr17:66250580G>A ENST00000359904.3 + 5 1754 c.622G>A c.(622-624)Gat>Aat p.D208N AMZ2_ENST00000359783.4_Missense_Mutation_p.D150N|AMZ2_ENST00000585050.1_Intron|AMZ2_ENST00000577985.1_Missense_Mutation_p.D208N|AMZ2_ENST00000392720.2_Missense_Mutation_p.D208N|AMZ2_ENST00000577866.1_Missense_Mutation_p.D208N|AMZ2_ENST00000577273.1_Intron|AMZ2_ENST00000580753.1_Missense_Mutation_p.D208N NM_016627.4 NP_057711.3 Q86W34 AMZ2_HUMAN archaelysin family metallopeptidase 2 208 metallopeptidase activity|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3) 9 all_cancers(12;1.12e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) GTATGGCAGTGATTTTTATAG 0.368000 7 22 0 0 1 0 0 RAB11B 9230 broad.mit.edu 37 19 8467368 8467368 + Splice_Site SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr19:8467368G>A ENST00000328024.6 + 4 648 c.e4-1 RAB11B_ENST00000594216.1_Splice_Site|RAB11B_ENST00000601897.1_Splice_Site NM_004218.3 NP_004209.2 Q15907 RB11B_HUMAN RAB11B, member RAS oncogene family cell cycle|protein transport|small GTPase mediated signal transduction plasma membrane GDP binding|GTP binding|GTPase activity large_intestine(2)|lung(1)|ovary(1) 4 CTTTGTTCCAGAAAAGAACAA 0.567000 15 27 0 0 1 0 0 MAGEB16 139604 broad.mit.edu 37 X 35820609 35820609 + Nonsense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chrX:35820609C>G ENST00000399989.1 + 2 575 c.296C>G c.(295-297)tCa>tGa p.S99* MAGEB16_ENST00000399985.1_Nonsense_Mutation_p.S99*|MAGEB16_ENST00000399987.1_Nonsense_Mutation_p.S99*|MAGEB16_ENST00000399988.1_Nonsense_Mutation_p.S99*|MAGEB16_ENST00000399992.1_Nonsense_Mutation_p.S131* NM_001099921.1 NP_001093391.1 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 99 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 CCAAGCTCCTCAGAGGATACA 0.478000 6 6 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195501094 195501094 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:195501094G>C ENST00000463781.3 - 4 13485 c.13026C>G c.(13024-13026)ttC>ttG p.F4342L MUC4_ENST00000346145.4_Missense_Mutation_p.F106L|MUC4_ENST00000475231.1_Missense_Mutation_p.F4342L|MUC4_ENST00000349607.4_Missense_Mutation_p.F55L NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1099 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TCGCCGGCTTGAAGAGTGGGG 0.657000 11 42 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49422657 49422657 + Missense_Mutation SNP C C A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr12:49422657C>A ENST00000301067.7 - 45 14335 c.14336G>T c.(14335-14337)gGa>gTa p.G4779V NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CACCTCACTTCCTTTGCCCTT 0.562000 35 110 1.90571e-15 2.05426e-15 1 1 0 PFKP 5214 broad.mit.edu 37 10 3172046 3172046 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr10:3172046C>T ENST00000381075.2 + 19 1919 c.1695C>T c.(1693-1695)acC>acT p.T565T PFKP_ENST00000381072.1_5'UTR|PFKP_ENST00000381125.4_Silent_p.T573T NM_001242339.1 NP_001229268.1 Q01813 K6PP_HUMAN phosphofructokinase, platelet 573 glycolysis 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142) CCAGCGGAACCAAGCGGCGCG 0.652000 20 74 0 0 1 0 0 PHLPP2 23035 broad.mit.edu 37 16 71710366 71710366 + Silent SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr16:71710366G>C ENST00000393524.2 - 8 2188 c.1455C>G c.(1453-1455)ctC>ctG p.L485L PHLPP2_ENST00000568954.1_Silent_p.L485L|PHLPP2_ENST00000356272.3_Silent_p.L485L|PHLPP2_ENST00000567016.1_Silent_p.L520L|PHLPP2_ENST00000360429.3_Silent_p.L485L Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein phosphatase 2 485 cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 AACTGGCATAGAGGGTCCGAA 0.498000 11 26 0 0 1 0 0 PEAK1 79834 broad.mit.edu 37 15 77471636 77471636 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr15:77471636G>A ENST00000560626.2 - 4 3108 c.2633C>T c.(2632-2634)tCt>tTt p.S878F PEAK1_ENST00000558305.1_Missense_Mutation_p.S878F|PEAK1_ENST00000312493.4_Missense_Mutation_p.S878F Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 878 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding ATGGTAAGGAGAAGAAGTAGA 0.532000 18 53 0 0 1 0 0 GPER1 2852 broad.mit.edu 37 7 1132276 1132276 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr7:1132276C>T ENST00000397092.1 + 3 1796 c.912C>T c.(910-912)ctC>ctT p.L304L GPER1_ENST00000297469.3_Silent_p.L304L|C7orf50_ENST00000397098.3_Intron|GPER1_ENST00000401670.1_Silent_p.L304L|C7orf50_ENST00000397100.2_Intron|GPER1_ENST00000397088.3_Silent_p.L304L|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000357429.6_Intron NM_001039966.1 NP_001035055.1 G protein-coupled estrogen receptor 1 304 CCCACCCCCTCACGGGCCACA 0.632000 21 43 0 0 1 0 0 STAG2 10735 broad.mit.edu 37 X 123195159 123195159 + Nonsense_Mutation SNP T T A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chrX:123195159T>A ENST00000371160.1 + 16 1792 c.1502T>A c.(1501-1503)tTg>tAg p.L501* STAG2_ENST00000371157.3_Nonsense_Mutation_p.L501*|STAG2_ENST00000218089.9_Nonsense_Mutation_p.L501*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.L501*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.L432*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.L501*|STAG2_ENST00000469481.1_Intron NM_001282418.1 NP_001269347.1 Q8N3U4 STAG2_HUMAN stromal antigen 2 501 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 ATGAATAGCTTGTTACTGGAA 0.363000 18 14 0 0 1 0 0 STYK1 55359 broad.mit.edu 37 12 10782155 10782155 + Silent SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr12:10782155G>A ENST00000075503.3 - 6 1090 c.570C>T c.(568-570)ctC>ctT p.L190L NM_018423.2 NP_060893.2 Q6J9G0 STYK1_HUMAN serine/threonine/tyrosine kinase 1 190 Protein kinase. integral to membrane|plasma membrane ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 26 ACACCATATAGAGTGGCAGCT 0.527000 HNSCC(73;0.22) 7 17 0 0 1 0 0 MBTPS1 8720 broad.mit.edu 37 16 84088129 84088129 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr16:84088129C>T ENST00000343411.3 - 23 3579 c.3084G>A c.(3082-3084)ccG>ccA p.P1028P NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 1028 Arg/Lys/Pro-rich (basic). cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 TCCTCCGCTTCGGCCTGCTCT 0.622000 9 23 0 0 1 0 0 PNPLA1 285848 broad.mit.edu 37 6 36269737 36269737 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr6:36269737G>A ENST00000394571.2 + 6 875 c.875G>A c.(874-876)cGc>cAc p.R292H PNPLA1_ENST00000388715.3_Missense_Mutation_p.R197H|PNPLA1_ENST00000312917.5_Missense_Mutation_p.R206H NM_001145717.1 NP_001139189.2 Q8N8W4 PLPL1_HUMAN patatin-like phospholipase domain containing 1 292 lipid catabolic process hydrolase activity breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 22 TGCCCTGAACGCAGTCAACCA 0.547000 OREG0017382 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 28 0 0 1 0 0 PKN3 29941 broad.mit.edu 37 9 131469665 131469665 + Silent SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr9:131469665G>A ENST00000291906.4 + 6 1209 c.816G>A c.(814-816)gtG>gtA p.V272V NM_013355.3 NP_037487.2 Q6P5Z2 PKN3_HUMAN protein kinase N3 272 signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein binding|protein kinase C activity breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 GGACACCTGTGAAGCCCACCG 0.592000 16 9 0 0 1 0 0 RFX4 5992 broad.mit.edu 37 12 106977123 106977123 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr12:106977123C>T ENST00000392842.1 + 1 439 c.25C>T c.(25-27)Ccc>Tcc p.P9S RP11-144F15.1_ENST00000551505.1_Intron NM_213594.2 NP_998759.1 Q33E94 RFX4_HUMAN regulatory factor X, 4 (influences HLA class II expression) 9 transcription, DNA-dependent nucleus DNA binding NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1) 35 ACTGGAGGAACCCGACATGGA 0.557000 17 50 0 0 1 0 0 HECTD2 143279 broad.mit.edu 37 10 93244276 93244276 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr10:93244276G>C ENST00000446394.1 + 10 946 c.846G>C c.(844-846)aaG>aaC p.K282N HECTD2_ENST00000298068.5_Missense_Mutation_p.K278N|HECTD2_ENST00000498446.1_3'UTR|HECTD2_ENST00000371667.1_5'UTR|HECTD2_ENST00000536715.1_5'UTR NM_001284274.1 NP_001271203.1 Q5U5R9 HECD2_HUMAN HECT domain containing E3 ubiquitin protein ligase 2 278 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1) 27 TGTCCCAGAAGAGGTTCAAAC 0.338000 12 23 0 0 1 0 0 DDHD1 80821 broad.mit.edu 37 14 53529876 53529876 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr14:53529876G>C ENST00000357758.3 - 7 1734 c.1551C>G c.(1549-1551)ttC>ttG p.F517L DDHD1_ENST00000323669.5_Missense_Mutation_p.F517L|DDHD1_ENST00000395606.1_Missense_Mutation_p.F524L NM_030637.2 NP_085140.2 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 517 lipid catabolic process cytoplasm hydrolase activity|metal ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1) 25 Breast(41;0.037) TCCGAGAACAGAAAAGGGAAT 0.368000 7 39 0 0 1 0 0 NRCAM 4897 broad.mit.edu 37 7 107847975 107847975 + Nonsense_Mutation SNP C C A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr7:107847975C>A ENST00000379028.3 - 13 1674 c.1204G>T c.(1204-1206)Gaa>Taa p.E402* NRCAM_ENST00000413765.2_Nonsense_Mutation_p.E383*|NRCAM_ENST00000379024.4_Nonsense_Mutation_p.E383*|NRCAM_ENST00000425651.2_Nonsense_Mutation_p.E402*|NRCAM_ENST00000379022.4_Nonsense_Mutation_p.E402*|NRCAM_ENST00000351718.4_Nonsense_Mutation_p.E396* Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 402 Ig-like 4. angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 AACTTACTTTCTATTGGGACT 0.403000 17 31 1.56452e-12 1.68273e-12 1 1 0 ZNF737 100129842 broad.mit.edu 37 19 20727783 20727783 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr19:20727783G>A ENST00000427401.4 - 4 1320 c.1226C>T c.(1225-1227)tCc>tTc p.S409F NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 409 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 AAGGGAAGAGGAGTACTTAAA 0.418000 6 13 0 0 1 0 0 CYP26B1 56603 broad.mit.edu 37 2 72360313 72360313 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr2:72360313G>C ENST00000001146.2 - 5 1188 c.985C>G c.(985-987)Cat>Gat p.H329D CYP26B1_ENST00000412253.1_Missense_Mutation_p.H138D|CYP26B1_ENST00000546307.1_Missense_Mutation_p.H254D NM_001277742.1|NM_019885.2 NP_001264671.1|NP_063938.1 Q9NR63 CP26B_HUMAN cytochrome P450, family 26, subfamily B, polypeptide 1 329 cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2) 28 AGGATGCCATGAGCCCGCAGC 0.652000 9 18 0 0 1 0 0 KLK12 43849 broad.mit.edu 37 19 51535195 51535195 + Missense_Mutation SNP C C A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr19:51535195C>A ENST00000525263.1 - 3 513 c.394G>T c.(394-396)Gac>Tac p.D132Y KLK12_ENST00000250351.4_Missense_Mutation_p.D132Y|CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000319590.4_Missense_Mutation_p.D132Y|KLK12_ENST00000250352.11_Intron|KLK12_ENST00000529888.1_Intron Q9UKR0 KLK12_HUMAN kallikrein-related peptidase 12 132 Peptidase S1. proteolysis extracellular region|soluble fraction serine-type endopeptidase activity endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 12 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399) GTTGCACAGTCATTGGGCAGG 0.692000 23 49 9.57634e-11 1.0277e-10 1 1 0 PRDM9 56979 broad.mit.edu 37 5 23518025 23518025 + Missense_Mutation SNP C C T rs62342743 TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr5:23518025C>T ENST00000296682.3 + 5 519 c.337C>T c.(337-339)Cgt>Tgt p.R113C NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 113 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 AGTGGAACAGCGTAAACACCA 0.408000 HNSCC(3;0.000094) 20 59 0 0 1 0 0 PEAK1 79834 broad.mit.edu 37 15 77471280 77471280 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr15:77471280G>C ENST00000560626.2 - 4 3464 c.2989C>G c.(2989-2991)Caa>Gaa p.Q997E PEAK1_ENST00000558305.1_Missense_Mutation_p.Q997E|PEAK1_ENST00000312493.4_Missense_Mutation_p.Q997E Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 997 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding AGCTGGCCTTGAGCAGGGTCG 0.542000 6 25 0 0 1 0 0 RAB6B 51560 broad.mit.edu 37 3 133557043 133557043 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:133557043C>T ENST00000285208.4 - 6 811 c.462G>A c.(460-462)gaG>gaA p.E154E RAB6B_ENST00000543906.1_Silent_p.E154E|RAB6B_ENST00000469959.1_Intron|RAB6B_ENST00000486858.1_Silent_p.E141E NM_016577.3 NP_057661.3 Q9NRW1 RAB6B_HUMAN RAB6B, member RAS oncogene family 154 protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle|Golgi membrane GTP binding|GTPase activity|protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1) 11 TCGCACTGGTCTCAATGAACA 0.612000 51 104 0 0 1 0 0 RPN1 6184 broad.mit.edu 37 3 128356737 128356737 + Nonsense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:128356737G>A ENST00000296255.3 - 3 586 c.538C>T c.(538-540)Cga>Tga p.R180* RPN1_ENST00000497289.1_Nonsense_Mutation_p.R8* NM_002950.3 NP_002941.1 P04843 RPN1_HUMAN ribophorin I 180 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2) 13 GBM - Glioblastoma multiforme(114;0.189) TCCACATTTCGAGAGGCAAGC 0.507000 T EVI1 AML 9 43 0 0 1 0 0 TBC1D12 23232 broad.mit.edu 37 10 96162370 96162370 + Translation_Start_Site SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr10:96162370G>A ENST00000225235.4 + 0 110 NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) CCCACCCCCAGATGGTGGGTC 0.697000 4 21 0 0 1 0 0 C20orf26 26074 broad.mit.edu 37 20 20243771 20243771 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr20:20243771G>A ENST00000245957.5 + 21 2576 c.2500G>A c.(2500-2502)Gaa>Aaa p.E834K C20orf26_ENST00000377293.1_Missense_Mutation_p.E190K|C20orf26_ENST00000377309.2_Missense_Mutation_p.E190K|C20orf26_ENST00000389656.3_Missense_Mutation_p.E190K|RP5-1096J16.1_ENST00000460400.1_RNA NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 834 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) CATCACCACAGAAGGTAAGGA 0.403000 13 43 0 0 1 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51914577 51914577 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr19:51914577G>C ENST00000353836.5 - 10 1806 c.1585C>G c.(1585-1587)Ctt>Gtt p.L529V SIGLEC10_ENST00000442846.3_Missense_Mutation_p.L381V|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.L446V|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.L624V|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.L624V|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.L566V|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.L471V|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.L439V|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.L481V NM_001171157.1|NM_001171158.1|NM_001171159.1 NP_001164628.1|NP_001164629.1|NP_001164630.1 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 624 cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding p.L624F(1)|p.L566F(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) CCTGGTGGAAGAGGGGTCCGA 0.493000 18 56 0 0 1 0 0 ARHGEF2 9181 broad.mit.edu 37 1 155927654 155927654 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr1:155927654G>A ENST00000462460.2 - 17 1954 c.1700C>T c.(1699-1701)tCg>tTg p.S567L ARHGEF2_ENST00000361247.4_Missense_Mutation_p.S522L|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.S521L|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.S494L|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.S494L|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.S523L Q92974 ARHG2_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 2 PH. actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2) 40 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) ATTCTGCAGCGATACCACTGA 0.522000 4 15 0 0 1 0 0 DDX4 54514 broad.mit.edu 37 5 55109582 55109582 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr5:55109582C>T ENST00000505374.1 + 19 1789 c.1697C>T c.(1696-1698)tCa>tTa p.S566L DDX4_ENST00000511853.1_Missense_Mutation_p.S417L|DDX4_ENST00000514278.2_Missense_Mutation_p.S546L|DDX4_ENST00000353507.5_Missense_Mutation_p.S532L|DDX4_ENST00000354991.5_Missense_Mutation_p.S532L NM_024415.2 NP_077726.1 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 566 Helicase C-terminal. multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 24 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) GAAAAAATATCAACTACAAGT 0.284000 15 27 0 0 1 0 0 AKAP4 8852 broad.mit.edu 37 X 49958593 49958593 + Missense_Mutation SNP G G T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chrX:49958593G>T ENST00000376056.2 - 5 894 c.744C>A c.(742-744)aaC>aaA p.N248K AKAP4_ENST00000376064.3_Missense_Mutation_p.N248K|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000358526.2_Missense_Mutation_p.N257K Q5JQC9 AKAP4_HUMAN A kinase (PRKA) anchor protein 4 257 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4) 41 Ovarian(276;0.236) TTCTCTCTTTGTTCCCAGGGG 0.473000 21 12 6.21321e-17 6.7275e-17 1 1 0 RNF215 200312 broad.mit.edu 37 22 30782063 30782063 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr22:30782063C>T ENST00000382363.3 - 3 571 c.497G>A c.(496-498)cGa>cAa p.R166Q NM_001017981.1 NP_001017981.1 Q9Y6U7 RN215_HUMAN ring finger protein 215 166 integral to membrane zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2) 6 ATTTACCTCTCGGACCACGTT 0.607000 3 8 0 0 1 0 0 MEX3B 84206 broad.mit.edu 37 15 82335694 82335694 + Missense_Mutation SNP G G T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr15:82335694G>T ENST00000329713.4 - 2 1952 c.1517C>A c.(1516-1518)tCt>tAt p.S506Y MEX3B_ENST00000558133.1_3'UTR NM_032246.4 NP_115622.2 Q6ZN04 MEX3B_HUMAN mex-3 RNA binding family member B 506 protein autophosphorylation cytoplasmic mRNA processing body|nucleus calcium ion binding|RNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1) 19 CCCggaggaagaggatgaaga 0.647000 5 17 0.014758 0.0149432 1 1 0 OR51V1 283111 broad.mit.edu 37 11 5221700 5221700 + Silent SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr11:5221700G>A ENST00000321255.1 - 1 230 c.231C>T c.(229-231)ctC>ctT p.L77L NM_001004760.2 NP_001004760.2 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, member 1 77 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACAGGTCAGTGAGGGCCAGCA 0.537000 26 52 0 0 1 0 0 FNBP1L 54874 broad.mit.edu 37 1 93998614 93998614 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr1:93998614G>C ENST00000260506.8 + 8 926 c.775G>C c.(775-777)Gat>Cat p.D259H FNBP1L_ENST00000604705.1_Missense_Mutation_p.D259H|FNBP1L_ENST00000370253.2_Missense_Mutation_p.D259H|FNBP1L_ENST00000271234.7_Missense_Mutation_p.D259H|FNBP1L_ENST00000370256.4_Missense_Mutation_p.D259H NM_001024948.2|NM_017737.4 NP_001020119.1|NP_060207.2 Q5T0N5 FBP1L_HUMAN formin binding protein 1-like 259 Induction of membrane tubulation (By similarity).|Interaction with CDC42. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane lipid binding breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1) 11 all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155) all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111) AAAATCAGTTGATGAAAGAAG 0.353000 11 26 0 0 1 0 0 LOC101927079 101927079 broad.mit.edu 37 15 22332464 22332464 + RNA SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr15:22332464C>G ENST00000558896.1 + 0 271 GGCCTATCATCTTCTTGGGAG 0.368000 14 49 0 0 1 0 0 PTX3 5806 broad.mit.edu 37 3 157155332 157155332 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:157155332C>T ENST00000295927.3 + 2 306 c.161C>T c.(160-162)tCg>tTg p.S54L VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000392833.2_Intron NM_002852.3 NP_002843.2 P26022 PTX3_HUMAN pentraxin 3, long 54 inflammatory response extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1) 10 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) CAGGAGCACTCGGAATGGGAC 0.607000 3 12 0 0 1 0 0 DEPDC1B 55789 broad.mit.edu 37 5 59895041 59895041 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr5:59895041G>A ENST00000265036.5 - 10 1356 c.1289C>T c.(1288-1290)tCa>tTa p.S430L DEPDC1B_ENST00000453022.2_Intron|DEPDC1B_ENST00000545085.1_Intron NM_018369.2 NP_060839.2 Q8WUY9 DEP1B_HUMAN DEP domain containing 1B 430 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2) 17 Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17) ACGGCAAAATGATGGAGCAGA 0.373000 6 24 0 0 1 0 0 NECAP1 25977 broad.mit.edu 37 12 8242793 8242793 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr12:8242793G>A ENST00000339754.5 + 3 277 c.199G>A c.(199-201)Gag>Aag p.E67K NM_015509.3 NP_056324.2 Q8NC96 NECP1_HUMAN NECAP endocytosis associated 1 67 endocytosis|protein transport clathrin coated vesicle membrane|plasma membrane cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Kidney(36;0.0915) TCTGTCAGGGGAGCTCTTTGC 0.443000 18 40 0 0 1 0 0 DCAF11 80344 broad.mit.edu 37 14 24584927 24584927 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr14:24584927C>G ENST00000446197.3 + 2 851 c.124C>G c.(124-126)Ctg>Gtg p.L42V DCAF11_ENST00000560171.1_3'UTR|DCAF11_ENST00000559115.1_Missense_Mutation_p.L42V|DCAF11_ENST00000396936.1_5'UTR|DCAF11_ENST00000396941.4_Missense_Mutation_p.L42V NM_025230.4 NP_079506.3 Q8TEB1 DCA11_HUMAN DDB1 and CUL4 associated factor 11 42 CUL4 RING ubiquitin ligase complex protein binding AGATGTGGATCTGGCCCAGGT 0.617000 32 65 0 0 1 0 0 HOXB2 3212 broad.mit.edu 37 17 46622246 46622246 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr17:46622246C>T ENST00000330070.4 - 1 1195 c.28G>A c.(28-30)Ggg>Agg p.G10R HOXB-AS1_ENST00000504972.3_RNA|HOXB-AS1_ENST00000435312.1_RNA NM_002145.3 NP_002136.1 P14652 HXB2_HUMAN homeobox B2 10 blood circulation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 11 TTTATAAACCCAATCTCCCTC 0.542000 12 31 0 0 1 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58256230 58256230 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr15:58256230G>C ENST00000249750.4 - 9 1706 c.939C>G c.(937-939)ttC>ttG p.F313L ALDH1A2_ENST00000537372.1_Missense_Mutation_p.F292L|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.F217L|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.F284L|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.F275L NM_003888.3 NP_003879.2 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1 family, member A2 313 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) CTTGATTGAAGAACACACCCT 0.567000 7 33 0 0 1 0 0 PRDM5 11107 broad.mit.edu 37 4 121737660 121737660 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr4:121737660C>G ENST00000264808.3 - 7 1053 c.813G>C c.(811-813)aaG>aaC p.K271N PRDM5_ENST00000515109.1_Missense_Mutation_p.K240N|PRDM5_ENST00000428209.2_Missense_Mutation_p.K240N NM_018699.2 NP_061169.2 Q9NQX1 PRDM5_HUMAN PR domain containing 5 271 histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 TCTTCAGCCTCTTTCCACAGC 0.547000 6 31 0 0 1 0 0 LSG1 55341 broad.mit.edu 37 3 194390755 194390755 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:194390755C>T ENST00000265245.5 - 2 523 c.209G>A c.(208-210)gGa>gAa p.G70E NM_018385.2 NP_060855.2 Q9H089 LSG1_HUMAN large 60S subunit nuclear export GTPase 1 70 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) AAACTCTGTTCCTGCAAGTTC 0.428000 25 71 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72821112 72821112 + Missense_Mutation SNP G G T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr16:72821112G>T ENST00000268489.5 - 10 11735 c.11063C>A c.(11062-11064)cCc>cAc p.P3688H ZFHX3_ENST00000397992.5_Missense_Mutation_p.P2774H|RP5-991G20.1_ENST00000563328.2_RNA NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3688 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) ACTGTCCTTGGGGCAGCTGGG 0.483000 54 158 1.31171e-36 1.42988e-36 1 1 0 KRBOX4 55634 broad.mit.edu 37 X 46322680 46322680 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chrX:46322680G>A ENST00000344302.4 + 5 821 c.190G>A c.(190-192)Gaa>Aaa p.E64K KRBOX4_ENST00000360017.5_Missense_Mutation_p.E64K|KRBOX4_ENST00000377919.2_Missense_Mutation_p.E64K|KRBOX4_ENST00000478600.1_Missense_Mutation_p.E64K|KRBOX4_ENST00000298190.6_Missense_Mutation_p.E64K|KRBOX4_ENST00000487081.1_Missense_Mutation_p.E64K NM_001129898.1|NM_017776.2 NP_001123370.1|NP_060246.2 KRAB box domain containing 4 GGGACCAGGTGAAGAGTCCTG 0.557000 18 16 0 0 1 0 0 AP1G2 8906 broad.mit.edu 37 14 24035801 24035801 + Missense_Mutation SNP G G T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr14:24035801G>T ENST00000308724.5 - 2 1054 c.299C>A c.(298-300)gCc>gAc p.A100D AP1G2_ENST00000556277.1_5'UTR|AP1G2_ENST00000397120.3_Missense_Mutation_p.A100D|RP11-66N24.3_ENST00000555968.1_RNA NM_003917.2 NP_003908.1 O75843 AP1G2_HUMAN adaptor-related protein complex 1, gamma 2 subunit 100 interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport AP-1 adaptor complex|endosome membrane protein binding|protein transporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 28 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00672) GAGCAGGTGGGCATCGTGCCT 0.532000 53 194 3.4597e-24 3.76291e-24 1 1 0 ZSCAN2 54993 broad.mit.edu 37 15 85165007 85165007 + Silent SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr15:85165007G>A ENST00000448803.2 + 3 1873 c.1581G>A c.(1579-1581)gaG>gaA p.E527E ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000358472.3_Silent_p.E377E|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000327179.6_Silent_p.E526E|ZSCAN2_ENST00000546148.1_Silent_p.E527E NM_181877.3 NP_870992.2 Q7Z7L9 ZSCA2_HUMAN zinc finger and SCAN domain containing 2 527 cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1) 19 UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22) ACACGGGCGAGAAGCCCTACA 0.597000 32 104 0 0 1 0 0 SUCLA2 8803 broad.mit.edu 37 13 48523157 48523157 + Missense_Mutation SNP C C A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr13:48523157C>A ENST00000378654.3 - 10 1291 c.1235G>T c.(1234-1236)cGa>cTa p.R412L SUCLA2_ENST00000544100.1_Missense_Mutation_p.R278L|SUCLA2_ENST00000543413.1_Missense_Mutation_p.R354L|SUCLA2_ENST00000534875.1_Missense_Mutation_p.R354L NM_003850.2 NP_003841.1 Q9P2R7 SUCB1_HUMAN succinate-CoA ligase, ADP-forming, beta subunit 412 succinyl-CoA pathway|tricarboxylic acid cycle mitochondrial matrix ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4) 15 all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236) GBM - Glioblastoma multiforme(144;2.1e-06) Succinic acid(DB00139) ATCATCGACTCGTGTACCTGT 0.348000 17 63 1.67942e-08 1.77864e-08 1 1 0 WDR66 144406 broad.mit.edu 37 12 122437828 122437828 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr12:122437828C>T ENST00000288912.4 + 20 4067 c.3213C>T c.(3211-3213)ttC>ttT p.F1071F NM_144668.5 NP_653269.3 Q8TBY9 WDR66_HUMAN WD repeat domain 66 1071 calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) GAGAGGACTTCCTGAGACTGC 0.498000 7 54 0 0 1 0 0 MCM7 4176 broad.mit.edu 37 7 99697298 99697298 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr7:99697298C>T ENST00000303887.5 - 3 835 c.190G>A c.(190-192)Gac>Aac p.D64N MCM7_ENST00000354230.3_5'UTR|MCM7_ENST00000343023.6_Missense_Mutation_p.D64N NM_005916.3 NP_005907.3 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 64 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) CAAATTGAGTCCACCAACTCG 0.557000 26 61 0 0 1 0 0 SYNGAP1 8831 broad.mit.edu 37 6 33405756 33405756 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr6:33405756C>T ENST00000418600.2 + 8 1175 c.1074C>T c.(1072-1074)ttC>ttT p.F358F SYNGAP1_ENST00000293748.5_Silent_p.F358F|SYNGAP1_ENST00000428982.2_Silent_p.F299F|SYNGAP1_ENST00000496374.1_3'UTR NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 358 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 GGCGCCACTTCACAGAGCAGT 0.642000 15 23 0 0 1 0 0 DUSP22 56940 broad.mit.edu 37 6 348190 348190 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr6:348190C>T ENST00000604971.1 + 3 1155 c.42C>T c.(40-42)acC>acT p.T14T DUSP22_ENST00000419235.2_Silent_p.T117T|DUSP22_ENST00000603453.1_Silent_p.T14T|DUSP22_ENST00000344450.5_Silent_p.T117T|DUSP22_ENST00000605315.1_Silent_p.T14T|DUSP22_ENST00000605863.1_Silent_p.T14T|DUSP22_ENST00000605035.1_Silent_p.T14T Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 117 apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2) 26 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) CCCTGCACACCGTGCGTGCTG 0.597000 20 149 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178922324 178922324 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:178922324G>A ENST00000263967.3 + 6 1250 c.1093G>A c.(1093-1095)Gaa>Aaa p.E365K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 365 C2 PI3K-type. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E365K(6) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) CCATGGAGGAGAACCCTTATG 0.343000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 10 25 0 0 1 0 0 CYP2B6 1555 broad.mit.edu 37 19 41512899 41512899 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr19:41512899G>C ENST00000324071.4 + 4 581 c.574G>C c.(574-576)Gat>Cat p.D192H CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000598834.1_3'UTR NM_000767.4 NP_000758.1 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, polypeptide 6 192 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) CCACTACCAAGATCAAGAGTT 0.517000 13 46 0 0 1 0 0 PPP1R16B 26051 broad.mit.edu 37 20 37529305 37529305 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr20:37529305C>G ENST00000299824.1 + 5 738 c.549C>G c.(547-549)atC>atG p.I183M PPP1R16B_ENST00000373331.2_Missense_Mutation_p.I183M NM_015568.2 NP_056383.1 Q96T49 PP16B_HUMAN protein phosphatase 1, regulatory subunit 16B 183 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 49 Myeloproliferative disorder(115;0.00878) TGGATGTCATCGAGACCTGCA 0.557000 7 32 0 0 1 0 0 ANP32D 23519 broad.mit.edu 37 12 48866508 48866508 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr12:48866508G>C ENST00000266594.1 + 1 61 c.61G>C c.(61-63)Gaa>Caa p.E21Q NM_012404.2 NP_036536.2 O95626 AN32D_HUMAN acidic (leucine-rich) nuclear phosphoprotein 32 family, member D 21 central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 9 CGATGTGAAAGAACTTTTCCT 0.458000 27 96 0 0 1 0 0 ZNF229 7772 broad.mit.edu 37 19 44933146 44933146 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr19:44933146C>T ENST00000291187.4 - 6 2114 c.1792G>A c.(1792-1794)Gtg>Atg p.V598M CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000588931.1_Missense_Mutation_p.V604M|ZNF229_ENST00000591289.1_Intron NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 604 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) TTCCCACACACGTCACACACG 0.542000 15 44 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103266530 103266530 + Nonstop_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr8:103266530C>G ENST00000520539.1 - 59 9006 c.8400G>C c.(8398-8400)taG>taC p.*2800Y UBR5_ENST00000521922.1_Nonstop_Mutation_p.*2793Y|UBR5_ENST00000220959.4_Nonstop_Mutation_p.*2799Y|UBR5_ENST00000518205.1_Nonstop_Mutation_p.*528Y NM_001282873.1|NM_015902.5 NP_001269802.1|NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 0 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TTTTTATACTCTACACAAAAC 0.323000 4 27 0 0 1 0 0 PDSS1 23590 broad.mit.edu 37 10 27012990 27012990 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr10:27012990G>C ENST00000376215.5 + 8 822 c.769G>C c.(769-771)Gca>Cca p.A257P PDSS1_ENST00000376203.5_Missense_Mutation_p.A257P NM_014317.3 NP_055132.2 Q5T2R2 DPS1_HUMAN prenyl (decaprenyl) diphosphate synthase, subunit 1 257 isoprenoid biosynthetic process|ubiquinone biosynthetic process mitochondrion metal ion binding|protein heterodimerization activity autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1) 21 TGAAAGATTTGCACACTACCT 0.408000 12 36 0 0 1 0 0 GON4L 54856 broad.mit.edu 37 1 155727056 155727056 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr1:155727056G>C ENST00000437809.1 - 26 5434 c.5312C>G c.(5311-5313)tCt>tGt p.S1771C GON4L_ENST00000368331.1_Missense_Mutation_p.S1771C|GON4L_ENST00000271883.5_Missense_Mutation_p.S1771C NM_001282856.1 NP_001269785.1 Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 1771 PAH 2. regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) AAAGAAGATAGAAAACTCATC 0.517000 11 39 0 0 1 0 0 TBCD 6904 broad.mit.edu 37 17 80881555 80881555 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr17:80881555C>G ENST00000355528.4 + 26 2336 c.2206C>G c.(2206-2208)Cta>Gta p.L736V TBCD_ENST00000539345.2_Missense_Mutation_p.L736V NM_005993.4 NP_005984.3 Q9BTW9 TBCD_HUMAN tubulin folding cofactor D 736 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) CCTGGCTGCTCTATGCAGTGA 0.597000 4 2 0 0 1 0 0 DENND5B 160518 broad.mit.edu 37 12 31540569 31540569 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr12:31540569C>G ENST00000389082.5 - 21 4057 c.3793G>C c.(3793-3795)Gaa>Caa p.E1265Q DENND5B_ENST00000536562.1_Missense_Mutation_p.E1300Q|DENND5B_ENST00000306833.6_Missense_Mutation_p.E1300Q NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 1265 RUN 2. integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 AGTGATCCTTCTAGGACTATG 0.498000 8 16 0 0 1 0 0 LINGO3 645191 broad.mit.edu 37 19 2290251 2290251 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr19:2290251C>T ENST00000585527.1 - 1 1772 c.1525G>A c.(1525-1527)Gag>Aag p.E509K LINGO3_ENST00000404279.1_Missense_Mutation_p.E509K P0C6S8 LIGO3_HUMAN leucine rich repeat and Ig domain containing 3 509 integral to membrane lung(1)|urinary_tract(1) 2 TTGTGGGCCTCGCCCGGGGTC 0.726000 9 21 0 0 1 0 0 TUBD1 51174 broad.mit.edu 37 17 57955630 57955630 + Silent SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr17:57955630G>A ENST00000325752.3 - 5 880 c.603C>T c.(601-603)ctC>ctT p.L201L TUBD1_ENST00000376094.4_Silent_p.L201L|TUBD1_ENST00000539018.1_5'UTR|TUBD1_ENST00000592426.1_Silent_p.L201L|TUBD1_ENST00000340993.6_Silent_p.L201L|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000394239.3_Silent_p.L201L NM_016261.3 NP_057345.2 Q9UJT1 TBD_HUMAN tubulin, delta 1 201 cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis centriole|microtubule|nucleus GTP binding|GTPase activity|structural molecule activity NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2) 21 all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;9.34e-13)|all cancers(12;1.91e-11) CATGAAGAAGGAGGGCGTCTG 0.408000 10 52 0 0 1 0 0 RELA 5970 broad.mit.edu 37 11 65423357 65423357 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr11:65423357G>C ENST00000525693.1 - 9 989 c.927C>G c.(925-927)ttC>ttG p.F309L RELA_ENST00000406246.3_Missense_Mutation_p.F309L|RELA_ENST00000308639.9_Missense_Mutation_p.F306L Q04206 TF65_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog A 309 anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|transcription factor complex activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1) 19 TGATGCTCTTGAAGGTCTCAT 0.562000 24 69 0 0 1 0 0 STX1B 112755 broad.mit.edu 37 16 31004782 31004782 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr16:31004782C>T ENST00000215095.5 - 8 792 c.561G>A c.(559-561)acG>acA p.T187T STX1B_ENST00000565419.1_Silent_p.T187T NM_052874.3 NP_443106.1 P61266 STX1B_HUMAN syntaxin 1B 187 intracellular protein transport|neurotransmitter transport|synaptic transmission integral to plasma membrane extracellular-glutamate-gated ion channel activity|SNAP receptor activity breast(2)|endometrium(1)|large_intestine(5)|lung(5) 13 GCGCCTGCTTCGTCATCTGTG 0.557000 9 45 0 0 1 0 0 PLK2 10769 broad.mit.edu 37 5 57751553 57751553 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr5:57751553G>A ENST00000274289.3 - 11 1738 c.1438C>T c.(1438-1440)Cgg>Tgg p.R480W PLK2_ENST00000502671.1_Intron NM_001252226.1|NM_006622.3 NP_001239155.1|NP_006613.2 Q9NYY3 PLK2_HUMAN polo-like kinase 2 480 positive regulation of I-kappaB kinase/NF-kappaB cascade ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2) 26 all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;7.03e-37) AGACATCCCCGAAGAACCCTT 0.438000 4 17 0 0 1 0 0 CBFA2T2 9139 broad.mit.edu 37 20 32212724 32212724 + Nonsense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr20:32212724C>T ENST00000492345.1 + 8 1472 c.787C>T c.(787-789)Cag>Tag p.Q263* CBFA2T2_ENST00000397800.1_Nonsense_Mutation_p.Q263*|CBFA2T2_ENST00000346541.3_Nonsense_Mutation_p.Q292*|CBFA2T2_ENST00000375279.2_Nonsense_Mutation_p.Q292*|CBFA2T2_ENST00000359606.3_Nonsense_Mutation_p.Q302*|CBFA2T2_ENST00000342704.6_Nonsense_Mutation_p.Q283*|CBFA2T2_ENST00000491618.1_3'UTR O43439 MTG8R_HUMAN core-binding factor, runt domain, alpha subunit 2; translocated to, 2 292 nucleus protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2) 20 TCCACCTCTTCAGCATTACAC 0.527000 13 26 0 0 1 0 0 SPG21 51324 broad.mit.edu 37 15 65266963 65266963 + Silent SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr15:65266963G>A ENST00000204566.2 - 5 724 c.429C>T c.(427-429)ttC>ttT p.F143F SPG21_ENST00000433215.2_Silent_p.F143F|SPG21_ENST00000559199.1_5'UTR|SPG21_ENST00000416889.2_Silent_p.F116F NM_016630.3 NP_057714.1 Q9NZD8 SPG21_HUMAN spastic paraplegia 21 (autosomal recessive, Mast syndrome) 143 cell death cytosol|endosome membrane|trans-Golgi network transport vesicle CD4 receptor binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1) 10 AAGTTTGGTTGAAGATAGAGG 0.388000 14 28 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179476614 179476614 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr2:179476614C>T ENST00000589042.1 - 268 50646 c.50422G>A c.(50422-50424)Gac>Aac p.D16808N TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D7935N|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D7868N|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D7743N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D15167N|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D14240N NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15167 Ig-like 101. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AAGTTACAGTCAGGTCCTGCA 0.443000 12 32 0 0 1 0 0 UCK2 7371 broad.mit.edu 37 1 165865490 165865490 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr1:165865490C>T ENST00000367879.4 + 4 723 c.420C>T c.(418-420)ttC>ttT p.F140F UCK2_ENST00000372212.4_Intron|UCK2_ENST00000469256.2_5'UTR|UCK2_ENST00000470820.1_5'UTR|RP11-525G13.2_ENST00000455257.2_RNA|UCK2_ENST00000462329.1_3'UTR NM_012474.4 NP_036606.2 Q9BZX2 UCK2_HUMAN uridine-cytidine kinase 2 140 pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 10 all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155) TCCTGGCCTTCTACTCCCAGG 0.547000 63 129 0 0 1 0 0 AKR7L 246181 broad.mit.edu 37 1 19596083 19596083 + RNA SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr1:19596083G>C ENST00000420396.2 - 0 507 AKR7L_ENST00000429712.1_RNA aldo-keto reductase family 7-like breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1) 6 GTACCAGCCAGAGGGTTGTAG 0.602000 11 54 0 0 1 0 0 SRCRB4D 136853 broad.mit.edu 37 7 76026974 76026974 + Silent SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr7:76026974G>A ENST00000275560.3 - 6 1076 c.729C>T c.(727-729)ttC>ttT p.F243F ZP3_ENST00000336517.4_5'UTR NM_080744.1 NP_542782.1 Q8WTU2 SRB4D_HUMAN scavenger receptor cysteine rich domain containing, group B (4 domains) 243 SRCR 2. extracellular region|membrane scavenger receptor activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 21 CATAGCCGAAGAAGGCGTTGG 0.701000 13 32 0 0 1 0 0 SAP30BP 29115 broad.mit.edu 37 17 73663474 73663474 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr17:73663474C>T ENST00000584667.1 + 1 279 c.22C>T c.(22-24)Ctg>Ttg p.L8L SAP30BP_ENST00000579864.1_3'UTR|SAP30BP_ENST00000355423.3_Silent_p.L8L NM_013260.6 NP_037392.1 Q9UHR5 S30BP_HUMAN SAP30 binding protein 8 apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.L8L(1) kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1) 17 all_cancers(13;6.42e-08) all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GAAGAATGTTCTGTCGTCTCT 0.607000 12 19 0 0 1 0 0 KHDRBS1 10657 broad.mit.edu 37 1 32498927 32498927 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr1:32498927C>G ENST00000327300.7 + 4 930 c.763C>G c.(763-765)Cta>Gta p.L255V KHDRBS1_ENST00000492989.1_Missense_Mutation_p.L216V|KHDRBS1_ENST00000307714.8_3'UTR NM_006559.1 NP_006550.1 Q07666 KHDR1_HUMAN KH domain containing, RNA binding, signal transduction associated 1 255 cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent membrane|nucleus DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 14 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) CAAGAAATTTCTAGTACCGGT 0.443000 15 36 0 0 1 0 0 EFS 10278 broad.mit.edu 37 14 23828168 23828168 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr14:23828168C>G ENST00000216733.3 - 5 1775 c.1168G>C c.(1168-1170)Gac>Cac p.D390H EFS_ENST00000429593.2_Missense_Mutation_p.D221H|EFS_ENST00000351354.3_Missense_Mutation_p.D297H NM_005864.2 NP_005855.1 O43281 EFS_HUMAN embryonal Fyn-associated substrate 390 cell adhesion|intracellular signal transduction cytoplasm SH3 domain binding endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2) 16 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) TGAGCTTTGTCCATGCCCTGC 0.677000 13 47 0 0 1 0 0 COMMD7 149951 broad.mit.edu 37 20 31292656 31292656 + Silent SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr20:31292656C>G ENST00000278980.6 - 6 992 c.387G>C c.(385-387)ctG>ctC p.L129L COMMD7_ENST00000446419.2_Silent_p.L128L NM_001099339.1|NM_053041.2 NP_001092809.1|NP_444269.2 Q86VX2 COMD7_HUMAN COMM domain containing 7 129 negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|tumor necrosis factor-mediated signaling pathway NF-kappaB binding breast(1)|endometrium(1)|lung(3) 5 GGTTAATCATCAGAGTCTGAC 0.468000 11 41 0 0 1 0 0 LPP 4026 broad.mit.edu 37 3 188242482 188242482 + Silent SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:188242482G>A ENST00000312675.4 + 5 582 c.336G>A c.(334-336)gaG>gaA p.E112E LPP_ENST00000448637.1_Silent_p.E112E|LPP_ENST00000543006.1_Silent_p.E112E NM_001167672.1|NM_005578.3 NP_001161144.1|NP_005569.1 Q93052 LPP_HUMAN LIM domain containing preferred translocation partner in lipoma 112 Pro-rich. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) CACTTGAGGAGAGGCGCTCCA 0.498000 T """HMGA2, MLL, C12orf9""" """lipoma, leukemia""" 28 61 0 0 1 0 0 TIE1 7075 broad.mit.edu 37 1 43778256 43778256 + Silent SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr1:43778256G>A ENST00000372476.3 + 12 1990 c.1911G>A c.(1909-1911)gtG>gtA p.V637V TIE1_ENST00000433781.2_Silent_p.V282V NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 637 Fibronectin type-III 2. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CTGCACACGTGCTTCTGCCCC 0.662000 19 33 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103284993 103284993 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr8:103284993C>T ENST00000520539.1 - 48 7343 c.6737G>A c.(6736-6738)cGg>cAg p.R2246Q UBR5_ENST00000521922.1_Missense_Mutation_p.R2240Q|UBR5_ENST00000518205.1_5'UTR|UBR5_ENST00000220959.4_Missense_Mutation_p.R2246Q NM_001282873.1|NM_015902.5 NP_001269802.1|NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 2246 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) ATCTCGATCCCGATCAACCTA 0.358000 5 40 0 0 1 0 0 KRT76 51350 broad.mit.edu 37 12 53162728 53162728 + Silent SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr12:53162728G>A ENST00000332411.2 - 9 1739 c.1686C>T c.(1684-1686)gtC>gtT p.V562V NM_015848.4 NP_056932.2 Q01546 K22O_HUMAN keratin 76 562 Tail. cytoskeleton organization keratin filament structural molecule activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 tgccactgctgacccctccat 0.652000 4 9 0 0 1 0 0 C11orf65 160140 broad.mit.edu 37 11 108276213 108276213 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr11:108276213C>G ENST00000525729.1 - 4 425 c.356G>C c.(355-357)aGa>aCa p.R119T C11orf65_ENST00000526725.1_5'UTR|C11orf65_ENST00000529391.1_Missense_Mutation_p.R168T|C11orf65_ENST00000393084.1_Missense_Mutation_p.R168T Q8NCR3 CK065_HUMAN chromosome 11 open reading frame 65 168 endometrium(1)|large_intestine(3)|lung(4)|ovary(2) 10 all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144) ATCTTGCCTTCTCTTCAGTTT 0.328000 8 11 0 0 1 0 0 CDH4 1002 broad.mit.edu 37 20 60508081 60508081 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr20:60508081G>C ENST00000360469.5 + 14 2366 c.2278G>C c.(2278-2280)Gag>Cag p.E760Q CDH4_ENST00000543233.1_Missense_Mutation_p.E686Q NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 760 adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) GAAGCGGCGAGAGAAGGAGCG 0.627000 17 38 0 0 1 0 0 ESPN 83715 broad.mit.edu 37 1 6505938 6505938 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr1:6505938C>G ENST00000377828.1 + 7 1575 c.1407C>G c.(1405-1407)atC>atG p.I469M RP1-202O8.2_ENST00000419034.1_RNA NM_031475.2 NP_113663.2 B1AK53 ESPN_HUMAN espin 469 Pro-rich. sensory perception of sound brush border|cytoplasm|filamentous actin|stereocilium actin filament binding|SH3 domain binding NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1) 17 Ovarian(185;0.0386)|all_lung(157;0.154) all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392) Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419) CAGCTGACATCTACATGCAGA 0.662000 22 54 0 0 1 0 0 IL18RAP 8807 broad.mit.edu 37 2 103053812 103053812 + Silent SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr2:103053812G>A ENST00000264260.2 + 6 1309 c.720G>A c.(718-720)gtG>gtA p.V240V IL18RAP_ENST00000409369.1_Silent_p.V98V NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 240 cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 TTGTTCAAGTGAGAACCATTG 0.378000 13 26 0 0 1 0 0 HSD11B1L 374875 broad.mit.edu 37 19 5687578 5687578 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr19:5687578C>T ENST00000581521.1 + 9 1042 c.567C>T c.(565-567)ttC>ttT p.F189F HSD11B1L_ENST00000423665.2_Silent_p.F189F|HSD11B1L_ENST00000342970.2_Silent_p.F102F|HSD11B1L_ENST00000581893.1_Silent_p.F55F|RPL36_ENST00000579649.1_Intron|HSD11B1L_ENST00000577917.1_Silent_p.F108F|HSD11B1L_ENST00000583928.1_Silent_p.F55F|RPL36_ENST00000582380.2_Intron|HSD11B1L_ENST00000581773.1_Silent_p.F189F|HSD11B1L_ENST00000301382.4_Silent_p.F108F|HSD11B1L_ENST00000411793.2_Silent_p.F55F|HSD11B1L_ENST00000339423.2_Silent_p.F189F|RPL36_ENST00000577222.1_Intron Q7Z5J1 DHI1L_HUMAN hydroxysteroid (11-beta) dehydrogenase 1-like 189 extracellular region binding|oxidoreductase activity ACGGCTTCTTCGGCTCCCTGC 0.711000 3 13 0 0 1 0 0 KAT2B 8850 broad.mit.edu 37 3 20136888 20136888 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:20136888C>T ENST00000263754.4 + 3 1019 c.564C>T c.(562-564)ttC>ttT p.F188F KAT2B_ENST00000426228.1_3'UTR NM_003884.4 NP_003875.3 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B 188 cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 40 AAGTTTATTTCTATCTATTTA 0.368000 4 9 0 0 1 0 0 CLUH 23277 broad.mit.edu 37 17 2594938 2594938 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr17:2594938C>T ENST00000570628.2 - 25 3816 c.3711G>A c.(3709-3711)ctG>ctA p.L1237L CLUH_ENST00000538975.1_Silent_p.L1237L|CLUH_ENST00000435359.1_Silent_p.L1237L clustered mitochondria (cluA/CLU1) homolog TAATGACGTTCAGCTGCTCCA 0.677000 6 15 0 0 1 0 0 ZNF513 130557 broad.mit.edu 37 2 27601125 27601125 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr2:27601125C>T ENST00000323703.6 - 4 1111 c.913G>A c.(913-915)Gaa>Aaa p.E305K ZNF513_ENST00000491924.1_Intron|ZNF513_ENST00000407879.1_Missense_Mutation_p.E243K NM_144631.5 NP_653232.3 Q8N8E2 ZN513_HUMAN zinc finger protein 513 305 regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 17 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCAGTGGTTCTGATCCAGTC 0.637000 6 28 0 0 1 0 0 MECOM 2122 broad.mit.edu 37 3 168834113 168834113 + Nonsense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:168834113G>C ENST00000464456.1 - 7 2183 c.983C>G c.(982-984)tCa>tGa p.S328* MECOM_ENST00000468789.1_Nonsense_Mutation_p.S328*|MECOM_ENST00000460814.1_Nonsense_Mutation_p.S328*|MECOM_ENST00000392736.3_Nonsense_Mutation_p.S328*|MECOM_ENST00000494292.1_Nonsense_Mutation_p.S516*|MECOM_ENST00000433243.2_Nonsense_Mutation_p.S329*|MECOM_ENST00000264674.3_Nonsense_Mutation_p.S393*|MECOM_ENST00000472280.1_Nonsense_Mutation_p.S329* NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 TTCAGTACTTGATAGTCCTTT 0.448000 16 44 0 0 1 0 0 KIAA0922 23240 broad.mit.edu 37 4 154524973 154524973 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr4:154524973C>T ENST00000409663.3 + 25 2858 c.2806C>T c.(2806-2808)Ctc>Ttc p.L936F KIAA0922_ENST00000440693.1_Missense_Mutation_p.L853F|KIAA0922_ENST00000409959.3_Missense_Mutation_p.L937F NM_015196.3 NP_056011.3 A2VDJ0 T131L_HUMAN KIAA0922 936 integral to membrane breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 all_hematologic(180;0.093) Renal(120;0.118) CAAGAACTTTCTCGATACATA 0.433000 8 35 0 0 1 0 0 EWSR1 2130 broad.mit.edu 37 22 29693913 29693913 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr22:29693913G>C ENST00000397938.2 + 13 1710 c.1391G>C c.(1390-1392)aGa>aCa p.R464T EWSR1_ENST00000414183.2_Missense_Mutation_p.R469T|EWSR1_ENST00000332050.6_Missense_Mutation_p.R391T|EWSR1_ENST00000332035.6_Missense_Mutation_p.R408T|EWSR1_ENST00000406548.1_Missense_Mutation_p.R463T|EWSR1_ENST00000331029.7_Missense_Mutation_p.R426T NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3 NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2 Q01844 EWS_HUMAN EWS RNA-binding protein 1 464 Arg/Gly/Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane calmodulin binding|nucleotide binding|RNA binding|zinc ion binding EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9) breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CGTGAGGGCAGAGGCATGCCA 0.483000 T """FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1, PBX1""" """Ewing sarcoma, desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma""" 13 47 0 0 1 0 0 ENTPD8 377841 broad.mit.edu 37 9 140331139 140331139 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr9:140331139C>T ENST00000371506.2 - 6 803 c.620G>A c.(619-621)gGa>gAa p.G207E ENTPD8_ENST00000344119.2_Missense_Mutation_p.G207E|ENTPD8_ENST00000472938.1_Missense_Mutation_p.G207E NM_001033113.1 NP_001028285.1 Q5MY95 ENTP8_HUMAN ectonucleoside triphosphate diphosphohydrolase 8 207 integral to membrane|plasma membrane ATP binding biliary_tract(1)|lung(4)|prostate(1)|skin(1) 7 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898) GGAGGCCCCTCCCATGTCCAG 0.632000 3 5 0 0 1 0 0 TRIM63 84676 broad.mit.edu 37 1 26385055 26385055 + Silent SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr1:26385055G>A ENST00000374272.3 - 5 795 c.657C>T c.(655-657)atC>atT p.I219I NM_032588.3 NP_115977.2 Q969Q1 TRI63_HUMAN tripartite motif containing 63, E3 ubiquitin protein ligase 219 cytoplasm|microtubule|nucleus ligase activity|signal transducer activity|titin binding|zinc ion binding kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1) 5 Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|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;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) TCTCATCCAGGATGGCATACA 0.517000 40 60 0 0 1 0 0 NECAP1 25977 broad.mit.edu 37 12 8242817 8242817 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr12:8242817G>A ENST00000339754.5 + 3 301 c.223G>A c.(223-225)Gaa>Aaa p.E75K NM_015509.3 NP_056324.2 Q8NC96 NECP1_HUMAN NECAP endocytosis associated 1 75 endocytosis|protein transport clathrin coated vesicle membrane|plasma membrane cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Kidney(36;0.0915) GGCACCAGTAGAACAATATCC 0.438000 18 39 0 0 1 0 0 FAM193A 8603 broad.mit.edu 37 4 2696740 2696740 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr4:2696740G>A ENST00000324666.5 + 15 2638 c.2287G>A c.(2287-2289)Gag>Aag p.E763K FAM193A_ENST00000545951.1_Missense_Mutation_p.E763K|FAM193A_ENST00000502458.1_Missense_Mutation_p.E785K|FAM193A_ENST00000382839.3_Missense_Mutation_p.E763K|FAM193A_ENST00000505311.1_Missense_Mutation_p.E763K NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 763 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 TGATGGGGACGAGAGTGCAGA 0.572000 6 10 0 0 1 0 0 TRIM63 84676 broad.mit.edu 37 1 26384977 26384977 + Silent SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr1:26384977G>A ENST00000374272.3 - 5 873 c.735C>T c.(733-735)ctC>ctT p.L245L NM_032588.3 NP_115977.2 Q969Q1 TRI63_HUMAN tripartite motif containing 63, E3 ubiquitin protein ligase 245 cytoplasm|microtubule|nucleus ligase activity|signal transducer activity|titin binding|zinc ion binding kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1) 5 Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|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;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) ACTGCTGGATGAGGGCCTCGA 0.547000 24 61 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47831124 47831124 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr21:47831124G>A ENST00000359568.5 + 28 5244 c.5137G>A c.(5137-5139)Gag>Aag p.E1713K PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 1713 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) CAGAAGTTCTGAGATTGAAGA 0.398000 21 36 0 0 1 0 0 METTL25 84190 broad.mit.edu 37 12 82752591 82752591 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr12:82752591G>A ENST00000248306.3 + 1 316 c.247G>A c.(247-249)Gag>Aag p.E83K METTL25_ENST00000547357.1_3'UTR NM_032230.2 NP_115606.2 methyltransferase like 25 AGTGGAAGCAGAGTGGGAAGC 0.682000 OREG0022008 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 17 0 0 1 0 0 TNPO1 3842 broad.mit.edu 37 5 72161422 72161422 + Splice_Site SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr5:72161422G>A ENST00000337273.5 + 6 888 c.e6-1 TNPO1_ENST00000447967.2_Intron|TNPO1_ENST00000506351.2_Splice_Site|TNPO1_ENST00000523768.1_Splice_Site|TNPO1_ENST00000454282.1_Splice_Site NM_002270.3 NP_002261.3 Q92973 TNPO1_HUMAN transportin 1 interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation cytosol|nucleus nuclear localization sequence binding|protein binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 Lung NSC(167;0.0053)|Ovarian(174;0.0175) OV - Ovarian serous cystadenocarcinoma(47;6.14e-54) GTCTCTTACAGGGAGCATTTG 0.338000 5 21 0 0 1 0 0 S100A7A 338324 broad.mit.edu 37 1 153391671 153391671 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr1:153391671G>C ENST00000368729.4 + 3 249 c.192G>C c.(190-192)aaG>aaC p.K64N S100A7A_ENST00000368728.2_Missense_Mutation_p.K64N|S100A7A_ENST00000329256.2_Missense_Mutation_p.K64N NM_176823.3 NP_789793.1 Q86SG5 S1A7A_HUMAN S100 calcium binding protein A7A 64 EF-hand 2. cytoplasm calcium ion binding cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1) 12 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) AAAAGGACAAGAATGAGGATA 0.423000 9 36 0 0 1 0 0 CLEC16A 23274 broad.mit.edu 37 16 11096993 11096993 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr16:11096993G>A ENST00000409790.1 + 11 1364 c.1134G>A c.(1132-1134)atG>atA p.M378I CLEC16A_ENST00000409552.3_Missense_Mutation_p.M376I NM_015226.2 NP_056041.1 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 378 breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 CCCTTGAGATGAACAAGCACA 0.527000 15 21 0 0 1 0 0 PLXNB1 5364 broad.mit.edu 37 3 48461413 48461413 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:48461413G>A ENST00000358536.4 - 11 2551 c.2282C>T c.(2281-2283)cCt>cTt p.P761L PLXNB1_ENST00000358459.4_Intron|PLXNB1_ENST00000456774.1_Intron|PLXNB1_ENST00000296440.6_Missense_Mutation_p.P761L|PLXNB1_ENST00000448774.2_Intron NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 761 Pro-rich. axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GGGGCTGGGAGGGGAGGGCTC 0.657000 9 18 0 0 1 0 0 PLTP 5360 broad.mit.edu 37 20 44539852 44539852 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr20:44539852C>G ENST00000477313.1 - 2 733 c.139G>C c.(139-141)Gag>Cag p.E47Q PLTP_ENST00000354050.4_Missense_Mutation_p.E47Q|PLTP_ENST00000420868.2_Missense_Mutation_p.E47Q|PLTP_ENST00000372431.3_Missense_Mutation_p.E47Q|PLTP_ENST00000542937.1_Missense_Mutation_p.E67Q P55058 PLTP_HUMAN phospholipid transfer protein 47 cellular lipid metabolic process|lipid transport extracellular region lipid binding endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1) 21 Myeloproliferative disorder(115;0.0122) GTGATAGTCTCCAGCTCTTGC 0.622000 24 68 0 0 1 0 0 RAF1 5894 broad.mit.edu 37 3 12650782 12650782 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:12650782C>G ENST00000251849.4 - 4 812 c.373G>C c.(373-375)Gaa>Caa p.E125Q RAF1_ENST00000542177.1_Missense_Mutation_p.E44Q|RAF1_ENST00000442415.2_Missense_Mutation_p.E125Q NM_002880.3 NP_002871.1 P04049 RAF1_HUMAN v-raf-1 murine leukemia viral oncogene homolog 1 125 RBD. activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission cytosol|mitochondrial outer membrane|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6) biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 32 Sorafenib(DB00398) ACTTGAAGTTCTTCTCCAATC 0.383000 T SRGAP3 pilocytic astrocytoma Noonan syndrome 22 48 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152324296 152324296 + Nonsense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr1:152324296G>C ENST00000388718.5 - 3 6038 c.5966C>G c.(5965-5967)tCa>tGa p.S1989* FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1989 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCATGAACTGAGGATCCTGA 0.522000 71 170 0 0 1 0 0 ATP8B1 5205 broad.mit.edu 37 18 55315746 55315746 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr18:55315746C>T ENST00000536015.1 - 28 3849 c.3730G>A c.(3730-3732)Gag>Aag p.E1244K ATP8B1_ENST00000283684.4_Missense_Mutation_p.E1244K|RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA NM_005603.4 NP_005594 O43520 AT8B1_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 1 1244 ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1) 53 Colorectal(73;0.229) CGCCTGTACTCCGCGGTGCCA 0.612000 14 50 0 0 1 0 0 SCGB1C1 147199 broad.mit.edu 37 11 193799 193799 + Missense_Mutation SNP G G T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr11:193799G>T ENST00000342878.2 + 2 163 c.143G>T c.(142-144)gGg>gTg p.G48V BET1L_ENST00000410108.1_Intron NM_145651.2 NP_663626.2 Q8TD33 SG1C1_HUMAN secretoglobin, family 1C, member 1 48 extracellular region binding endometrium(1)|liver(2)|lung(1)|skin(1) 5 all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) CTCTATGAGGGGACCTTGGGC 0.542000 6 43 0.00198382 0.00202141 1 1 0 PKMYT1 9088 broad.mit.edu 37 16 3024407 3024407 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr16:3024407C>T ENST00000431515.2 - 6 1376 c.991G>A c.(991-993)Gag>Aag p.E331K PKMYT1_ENST00000573944.1_Missense_Mutation_p.E322K|PKMYT1_ENST00000262300.8_Missense_Mutation_p.E331K|PKMYT1_ENST00000574385.1_Missense_Mutation_p.E322K|PKMYT1_ENST00000440027.2_Missense_Mutation_p.E331K|PKMYT1_ENST00000574730.1_Missense_Mutation_p.E262K Q99640 PMYT1_HUMAN protein kinase, membrane associated tyrosine/threonine 1 331 Protein kinase. G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 10 GAACGCAGCTCGGAAGACAGA 0.662000 8 16 0 0 1 0 0 PEAK1 79834 broad.mit.edu 37 15 77472557 77472557 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr15:77472557G>A ENST00000560626.2 - 4 2187 c.1712C>T c.(1711-1713)aCa>aTa p.T571I PEAK1_ENST00000558305.1_Missense_Mutation_p.T571I|PEAK1_ENST00000312493.4_Missense_Mutation_p.T571I Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 571 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding TGTGGGTGATGTAGGTGCTGA 0.383000 30 110 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38951129 38951129 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr19:38951129C>T ENST00000355481.4 + 20 2606 c.2475C>T c.(2473-2475)atC>atT p.I825I RYR1_ENST00000359596.3_Silent_p.I825I|RYR1_ENST00000360985.3_Silent_p.I825I NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 825 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) TTGAACCCATCAAGGAGTATC 0.637000 29 74 0 0 1 0 0 TMEM131 23505 broad.mit.edu 37 2 98375509 98375509 + Silent SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr2:98375509G>A ENST00000186436.5 - 40 5442 c.5214C>T c.(5212-5214)ttC>ttT p.F1738F NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 1738 Ser-rich. integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 CGAGTTTGCTGAAAACTTCTG 0.463000 24 49 0 0 1 0 0 KARS 3735 broad.mit.edu 37 16 75675551 75675551 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr16:75675551C>G ENST00000319410.5 - 3 338 c.217G>C c.(217-219)Gag>Cag p.E73Q KARS_ENST00000568378.1_Intron|KARS_ENST00000302445.3_Missense_Mutation_p.E45Q NM_001130089.1 NP_001123561.1 Q15046 SYK_HUMAN lysyl-tRNA synthetase 45 interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 18 L-Lysine(DB00123) AGCTGTTTCTCACTGAGCTCT 0.502000 18 33 0 0 1 0 0 STX16 8675 broad.mit.edu 37 20 57242588 57242588 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr20:57242588G>C ENST00000371141.4 + 3 911 c.187G>C c.(187-189)Gat>Cat p.D63H STX16_ENST00000371132.4_Missense_Mutation_p.D42H|STX16-NPEPL1_ENST00000530122.1_Missense_Mutation_p.D63H|STX16_ENST00000355957.5_Missense_Mutation_p.D46H|STX16_ENST00000358029.4_Missense_Mutation_p.D59H|STX16_ENST00000496003.1_3'UTR|STX16_ENST00000359617.4_Missense_Mutation_p.D10H|STX16_ENST00000361770.5_Missense_Mutation_p.D46H|STX16_ENST00000361830.3_Missense_Mutation_p.D63H NM_001001433.2 NP_001001433.1 O14662 STX16_HUMAN syntaxin 16 63 intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi Golgi membrane|integral to membrane|microsome|SNARE complex SNAP receptor activity breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1) 17 all_lung(29;0.0175) BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05) CATCAGCTTAGATCCAGAAGC 0.413000 7 31 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183673033 183673033 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr4:183673033G>A ENST00000511685.1 + 20 3833 c.3710G>A c.(3709-3711)aGa>aAa p.R1237K TENM3_ENST00000406950.2_Missense_Mutation_p.R1237K|TENM3_ENST00000502950.1_3'UTR teneurin transmembrane protein 3 p.R1237T(1) AACACCCGCAGAATTTATCGC 0.498000 23 63 0 0 1 0 0 KIAA1522 57648 broad.mit.edu 37 1 33235534 33235534 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr1:33235534G>A ENST00000401073.2 + 6 824 c.754G>A c.(754-756)Gat>Aat p.D252N KIAA1522_ENST00000373481.3_Missense_Mutation_p.D204N|KIAA1522_ENST00000373480.1_Missense_Mutation_p.D193N|KIAA1522_ENST00000294521.3_Intron NM_020888.2 NP_065939.2 Q9P206 K1522_HUMAN KIAA1522 193 breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) TGGTGCACGGGATGCCGTACG 0.716000 10 21 0 0 1 0 0 AOC1 26 broad.mit.edu 37 7 150555940 150555940 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr7:150555940C>G ENST00000493429.1 + 5 2244 c.1660C>G c.(1660-1662)Ctg>Gtg p.L554V AOC1_ENST00000467291.1_Missense_Mutation_p.L554V|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000360937.4_Missense_Mutation_p.L554V|AOC1_ENST00000416793.2_Missense_Mutation_p.L554V amine oxidase, copper containing 1 CCAGCCAACTCTGGAGCAGAC 0.582000 5 24 0 0 1 0 0 PALB2 79728 broad.mit.edu 37 16 23641638 23641638 + Nonsense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr16:23641638G>A ENST00000261584.4 - 5 1989 c.1837C>T c.(1837-1839)Cag>Tag p.Q613* NM_024675.3 NP_078951.2 Q86YC2 PALB2_HUMAN partner and localizer of BRCA2 613 double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3) 55 GBM - Glioblastoma multiforme(48;0.0167) TCAGGTAACTGAAAGTCTGTG 0.403000 """F, N, Mis""" """Wilms tumor, medulloblastoma, AML ,breast""" Involved in tolerance or repair of DNA crosslinks 12 33 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151845353 151845353 + Silent SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr7:151845353G>A ENST00000355193.2 - 53 14048 c.13830C>T c.(13828-13830)ctC>ctT p.L4610L KMT2C_ENST00000262189.6_Silent_p.L4553L lysine (K)-specific methyltransferase 2C TGTGGAAGATGAGGCTACCCA 0.532000 11 28 0 0 1 0 0 GPR88 54112 broad.mit.edu 37 1 101005449 101005449 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr1:101005449C>T ENST00000315033.4 + 2 1366 c.927C>T c.(925-927)ttC>ttT p.F309F NM_022049.2 NP_071332.2 Q9GZN0 GPR88_HUMAN G protein-coupled receptor 88 309 integral to membrane|plasma membrane G-protein coupled receptor activity large_intestine(2)|skin(1) 3 all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171) Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189) CCAGCGGCTTCTCGCTGCCGG 0.697000 5 12 0 0 1 0 0 NR2C2 7182 broad.mit.edu 37 3 15073965 15073965 + Nonsense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:15073965C>G ENST00000425241.1 + 10 1552 c.1190C>G c.(1189-1191)tCa>tGa p.S397* NR2C2_ENST00000406272.2_Nonsense_Mutation_p.S397*|NR2C2_ENST00000478572.1_3'UTR|NR2C2_ENST00000393102.3_Nonsense_Mutation_p.S397*|NR2C2_ENST00000323373.6_Nonsense_Mutation_p.S416* P49116 NR2C2_HUMAN nuclear receptor subfamily 2, group C, member 2 397 Ligand-binding (By similarity). cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 CTTTTCCTCTCAATGCACTGG 0.542000 15 52 0 0 1 0 0 C3orf67 200844 broad.mit.edu 37 3 58849499 58849499 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:58849499C>G ENST00000472469.1 - 11 1562 c.724G>C c.(724-726)Gag>Cag p.E242Q C3orf67_ENST00000295966.7_Missense_Mutation_p.E335Q|RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|C3orf67_ENST00000482387.1_Missense_Mutation_p.E335Q|RP11-147N17.1_ENST00000492031.1_RNA Q6ZVT6 CC067_HUMAN chromosome 3 open reading frame 67 335 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1) 19 all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248) BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23) TGTTCACTCTCTTTGCTGGCT 0.483000 18 35 0 0 1 0 0 KIAA2018 205717 broad.mit.edu 37 3 113376961 113376961 + Nonsense_Mutation SNP C C A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:113376961C>A ENST00000316407.4 - 7 3978 c.3568G>T c.(3568-3570)Gaa>Taa p.E1190* KIAA2018_ENST00000478658.1_Nonsense_Mutation_p.E1190*|KIAA2018_ENST00000491165.1_Intron NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 1190 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 GGTGTTGCTTCTGCCTGTCCT 0.418000 7 30 8.12818e-05 8.38815e-05 1 1 0 RFX4 5992 broad.mit.edu 37 12 107144526 107144526 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr12:107144526C>G ENST00000392842.1 + 17 2304 c.1890C>G c.(1888-1890)atC>atG p.I630M RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Missense_Mutation_p.I536M|RFX4_ENST00000357881.4_Missense_Mutation_p.I639M NM_213594.2 NP_998759.1 Q33E94 RFX4_HUMAN regulatory factor X, 4 (influences HLA class II expression) 630 transcription, DNA-dependent nucleus DNA binding NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1) 35 ACACAGCTATCTCTGGGCCAC 0.537000 28 97 0 0 1 0 0 C2orf78 388960 broad.mit.edu 37 2 74041300 74041300 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr2:74041300C>G ENST00000409561.1 + 2 915 c.794C>G c.(793-795)tCt>tGt p.S265C NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 265 cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 GTCTCTACTTCTGGGATGTAT 0.453000 17 45 0 0 1 0 0 MED21 9412 broad.mit.edu 37 12 27175537 27175537 + Nonsense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr12:27175537C>T ENST00000282892.3 + 1 55 c.25C>T c.(25-27)Cag>Tag p.Q9* MED21_ENST00000546323.1_Nonsense_Mutation_p.Q9*|MED21_ENST00000536503.1_3'UTR NM_001271811.1|NM_004264.3 NP_001258740.1|NP_004255.2 Q13503 MED21_HUMAN mediator complex subunit 21 9 positive regulation of transcription from RNA polymerase II promoter mediator complex DNA-directed RNA polymerase activity|transcription coactivator activity Colorectal(261;0.0847) CACGCAGCTTCAGGACGCTGT 0.542000 29 29 0 0 1 0 0 GLTSCR1L 23506 broad.mit.edu 37 6 42823610 42823610 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr6:42823610G>C ENST00000314073.5 + 9 2239 c.2063G>C c.(2062-2064)gGa>gCa p.G688A GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.G688A GLTSCR1-like AGTCATTCGGGAGGACAAAAA 0.378000 19 67 0 0 1 0 0 TM4SF19 116211 broad.mit.edu 37 3 196054402 196054402 + Silent SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:196054402C>G ENST00000446879.1 - 2 185 c.60G>C c.(58-60)ctG>ctC p.L20L TM4SF19_ENST00000273695.3_Silent_p.L20L|TM4SF19_ENST00000454715.1_Silent_p.L20L|TM4SF19_ENST00000442633.1_Silent_p.L20L Q96DZ7 T4S19_HUMAN transmembrane 4 L six family member 19 20 integral to membrane endometrium(2)|kidney(2)|large_intestine(3)|lung(5) 12 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00314) TCCCAAGGCTCAGTCCCAGGA 0.607000 24 68 0 0 1 0 0 C2orf71 388939 broad.mit.edu 37 2 29293657 29293657 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr2:29293657C>T ENST00000331664.5 - 1 3470 c.3471G>A c.(3469-3471)ggG>ggA p.G1157G NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 1157 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 CTGCTGGGTTCCCGAGAGGGC 0.622000 13 40 0 0 1 0 0 PRPF40A 55660 broad.mit.edu 37 2 153519627 153519627 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr2:153519627C>T ENST00000410080.1 - 20 2689 c.2148G>A c.(2146-2148)atG>atA p.M716I NM_017892.3 NP_060362.3 O75400 PR40A_HUMAN PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) 743 mRNA processing|RNA splicing nuclear matrix|nuclear speck protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1) 21 CTTTTCGTTTCATCTTCCGAG 0.338000 8 22 0 0 1 0 0 NCAPD3 23310 broad.mit.edu 37 11 134022913 134022913 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr11:134022913G>A ENST00000534548.2 - 35 4487 c.4423C>T c.(4423-4425)Ccc>Tcc p.P1475S NCAPD3_ENST00000526787.2_Intron NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 1475 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) TTCCTGGCGGGAGACCGCACA 0.557000 21 66 0 0 1 0 0 ZMYM4 9202 broad.mit.edu 37 1 35853094 35853094 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr1:35853094G>A ENST00000314607.6 + 13 2232 c.2152G>A c.(2152-2154)Gaa>Aaa p.E718K ZMYM4_ENST00000373297.2_Missense_Mutation_p.E629K NM_005095.2 NP_005086.2 Q5VZL5 ZMYM4_HUMAN zinc finger, MYM-type 4 718 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TTGTTCTGATGAATATAAGAA 0.313000 9 21 0 0 1 0 0 DAGLA 747 broad.mit.edu 37 11 61511592 61511592 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr11:61511592C>T ENST00000257215.5 + 20 2876 c.2760C>T c.(2758-2760)ctC>ctT p.L920L NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha 920 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) TCGACAGCCTCTTCAACCTGG 0.662000 12 38 0 0 1 0 0 DHX15 1665 broad.mit.edu 37 4 24585973 24585973 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr4:24585973G>C ENST00000336812.4 - 1 200 c.44C>G c.(43-45)tCt>tGt p.S15C NM_001358.2 NP_001349.2 O43143 DHX15_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 15 15 mRNA processing U12-type spliceosomal complex ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 30 Breast(46;0.0503) CTTCTTGCCAGAGGGGTAATC 0.652000 7 8 0 0 1 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169540564 169540564 + Silent SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:169540564C>G ENST00000340806.6 + 1 855 c.855C>G c.(853-855)ctC>ctG p.L285L NM_001080460.1 NP_001073929.1 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 285 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 TGCACCTGCTCTACCTGGGAA 0.627000 5 20 0 0 1 0 0 DUSP6 1848 broad.mit.edu 37 12 89744761 89744761 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr12:89744761C>G ENST00000279488.7 - 2 1673 c.442G>C c.(442-444)Gag>Cag p.E148Q DUSP6_ENST00000547140.1_5'UTR|DUSP6_ENST00000308385.6_Intron|DUSP6_ENST00000547291.1_Missense_Mutation_p.E23Q NM_001946.2 NP_001937.2 Q16828 DUS6_HUMAN dual specificity phosphatase 6 148 Rhodanese. dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity large_intestine(5)|lung(8)|skin(2)|urinary_tract(1) 16 AGATTGGTCTCGCAATGCAGG 0.562000 6 4 0 0 1 0 0 KIAA2018 205717 broad.mit.edu 37 3 113378598 113378598 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:113378598G>A ENST00000316407.4 - 7 2341 c.1931C>T c.(1930-1932)tCa>tTa p.S644L KIAA2018_ENST00000478658.1_Missense_Mutation_p.S644L|KIAA2018_ENST00000491165.1_Intron NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 644 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity p.S644L(1) NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 GTTAGACGCTGATAAAGATGA 0.393000 36 92 0 0 1 0 0 GDF5 8200 broad.mit.edu 37 20 34022151 34022151 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr20:34022151G>C ENST00000374372.1 - 4 1565 c.1062C>G c.(1060-1062)ttC>ttG p.F354L GDF5OS_ENST00000374375.1_Missense_Mutation_p.K65N|GDF5_ENST00000374369.3_Missense_Mutation_p.F354L P43026 GDF5_HUMAN growth differentiation factor 5 354 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3) 26 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) TCTCATTAAAGAACAGGTCCC 0.637000 24 40 0 0 1 0 0 AKR1E2 83592 broad.mit.edu 37 10 4884636 4884636 + Missense_Mutation SNP G G T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr10:4884636G>T ENST00000298375.7 + 8 848 c.777G>T c.(775-777)caG>caT p.Q259H AKR1E2_ENST00000334019.4_Missense_Mutation_p.Q202H|AKR1E2_ENST00000532248.1_Missense_Mutation_p.Q202H|AKR1E2_ENST00000345253.5_Missense_Mutation_p.Q161H|AKR1E2_ENST00000525281.1_3'UTR NM_001040177.2 NP_001035267.1 Q96JD6 AKCL2_HUMAN aldo-keto reductase family 1, member E2 259 cytoplasm 1,5-anhydro-D-fructose reductase activity NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9) 15 TTCAAATCCAGAGGAATGTGA 0.383000 9 39 0.000274275 0.000281845 1 1 0 S1PR1 1901 broad.mit.edu 37 1 101704934 101704934 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr1:101704934G>A ENST00000305352.6 + 2 769 c.394G>A c.(394-396)Gtg>Atg p.V132M S1PR1_ENST00000475821.1_3'UTR NM_001400.4 NP_001391.2 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 132 cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 43 GTCAGCCTCCGTGTTCAGTCT 0.542000 OREG0013620 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 44 0 0 1 0 0 PEAK1 79834 broad.mit.edu 37 15 77471169 77471169 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr15:77471169G>A ENST00000560626.2 - 4 3575 c.3100C>T c.(3100-3102)Cat>Tat p.H1034Y PEAK1_ENST00000558305.1_Missense_Mutation_p.H1034Y|PEAK1_ENST00000312493.4_Missense_Mutation_p.H1034Y Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 1034 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding GGAGAAGAATGACTCCTCTTC 0.413000 7 18 0 0 1 0 0 ITGAV 3685 broad.mit.edu 37 2 187506201 187506201 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr2:187506201C>T ENST00000261023.3 + 12 1319 c.1045C>T c.(1045-1047)Cta>Tta p.L349L ITGAV_ENST00000374907.3_Silent_p.L313L|ITGAV_ENST00000433736.2_Silent_p.L303L|AC017101.10_ENST00000453665.1_RNA NM_002210.3 NP_002201 P06756 ITAV_HUMAN integrin, alpha V 349 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) CTCAGTGTCTCTACAGAGAGC 0.498000 45 100 0 0 1 0 0 ACTA2 59 broad.mit.edu 37 10 90699336 90699336 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr10:90699336C>G ENST00000458208.1 - 7 1210 c.736G>C c.(736-738)Gat>Cat p.D246H STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000224784.6_Missense_Mutation_p.D246H|ACTA2-AS1_ENST00000596007.1_RNA|ACTA2-AS1_ENST00000437930.4_RNA NM_001141945.1 NP_001135417.1 P62736 ACTA_HUMAN actin, alpha 2, smooth muscle, aorta 246 response to virus cytosol ATP binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2) 17 Colorectal(252;0.0161) Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018) ACTTGCCCATCAGGCAACTCG 0.512000 10 42 0 0 1 0 0 UBALD1 124402 broad.mit.edu 37 16 4664715 4664715 + Silent SNP C C A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr16:4664715C>A ENST00000590965.1 - 1 160 c.84G>T c.(82-84)gcG>gcT p.A28A UBALD1_ENST00000591897.1_Intron|UBALD1_ENST00000591401.1_Silent_p.A28A|UBALD1_ENST00000587615.1_Silent_p.A28A|UBALD1_ENST00000587649.1_Silent_p.A28A|UBALD1_ENST00000283474.7_Silent_p.A28A UBA-like domain containing 1 GCAGTTGCTTCGCCTGGTCGG 0.731000 6 19 3.59834e-05 3.72932e-05 1 1 0 NR5A2 2494 broad.mit.edu 37 1 200017851 200017851 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr1:200017851C>G ENST00000367362.3 + 5 1261 c.1015C>G c.(1015-1017)Ctg>Gtg p.L339V NR5A2_ENST00000544748.1_Missense_Mutation_p.L267V|NR5A2_ENST00000236914.3_Missense_Mutation_p.L293V NM_001276464.1|NM_205860.1 NP_001263393.1|NP_995582.1 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 339 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Prostate(682;0.19) GCACGAAAAGCTGAGCACCTT 0.468000 20 59 0 0 1 0 0 KDM6A 7403 broad.mit.edu 37 X 44928966 44928966 + Nonsense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chrX:44928966C>G ENST00000377967.4 + 17 2107 c.2066C>G c.(2065-2067)tCa>tGa p.S689* KDM6A_ENST00000382899.4_Nonsense_Mutation_p.S696*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.S644*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.S610* NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 689 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 CCTAGCAATTCAGTAACACAG 0.537000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 8 6 0 0 1 0 0 C5orf56 441108 broad.mit.edu 37 5 131785348 131785348 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr5:131785348G>C ENST00000337752.2 + 3 186 c.55G>C c.(55-57)Gag>Cag p.E19Q C5orf56_ENST00000407797.1_Missense_Mutation_p.E19Q|C5orf56_ENST00000378947.3_Missense_Mutation_p.E19Q|C5orf56_ENST00000378953.4_Missense_Mutation_p.E19Q Q8N8D9 CE056_HUMAN chromosome 5 open reading frame 56 19 breast(1)|endometrium(1)|large_intestine(1)|lung(3) 6 GCAGGTGCCAGAGTTTGTAGC 0.463000 9 19 0 0 1 0 0 GTPBP8 29083 broad.mit.edu 37 3 112710162 112710162 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:112710162C>T ENST00000383677.3 + 1 331 c.316C>T c.(316-318)Ccg>Tcg p.P106S GTPBP8_ENST00000383678.2_Missense_Mutation_p.P106S NM_138485.1 NP_612494.1 Q8N3Z3 GTPB8_HUMAN GTP-binding protein 8 (putative) 106 barrier septum formation GTP binding kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 6 CGACCACGCCCCGGACCTTCC 0.677000 11 23 0 0 1 0 0 FBXW4 6468 broad.mit.edu 37 10 103433334 103433334 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr10:103433334C>T ENST00000331272.7 - 3 1071 c.453G>A c.(451-453)ttG>ttA p.L151L NM_022039.3 NP_071322.1 P57775 FBXW4_HUMAN F-box and WD repeat domain containing 4 151 ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway ubiquitin ligase complex breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 15 Colorectal(252;0.123) Epithelial(162;4.35e-08)|all cancers(201;1.92e-06) GCCGACGATTCAAGCTGGCAC 0.517000 35 79 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146059592 146059592 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr4:146059592G>C ENST00000454497.2 - 21 2277 c.2140C>G c.(2140-2142)Caa>Gaa p.Q714E OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Missense_Mutation_p.Q779E NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 778 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) TGTGGCATTTGACCATTAACA 0.488000 14 50 0 0 1 0 0 KCNJ2 3759 broad.mit.edu 37 17 68171399 68171399 + Missense_Mutation SNP C C A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr17:68171399C>A ENST00000243457.3 + 2 602 c.219C>A c.(217-219)ttC>ttA p.F73L KCNJ2_ENST00000535240.1_Missense_Mutation_p.F73L NM_000891.2 NP_000882.1 P63252 IRK2_HUMAN potassium inwardly-rectifying channel, subfamily J, member 2 73 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1) 25 Breast(10;1.64e-08) CAGACATCTTCACCACGTGTG 0.507000 12 50 7.03913e-09 7.47135e-09 1 1 0 GJB2 2706 broad.mit.edu 37 13 20763647 20763647 + Missense_Mutation SNP A A G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr13:20763647A>G ENST00000382844.1 - 1 272 c.74T>C c.(73-75)cTc>cCc p.L25P GJB2_ENST00000382848.4_Missense_Mutation_p.L25P P29033 CXB2_HUMAN gap junction protein, beta 2, 26kDa 25 cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport connexon complex|ER-Golgi intermediate compartment|integral to membrane breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1) 7 all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822) all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738) GAGGACGGTGAGCCAGATCTT 0.547000 Keratitis, Ichthyosis and Deafness syndrome OREG0022282 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 65 0 0 1 0 0 MICALL2 79778 broad.mit.edu 37 7 1480271 1480271 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr7:1480271C>G ENST00000297508.7 - 8 1936 c.1761G>C c.(1759-1761)tgG>tgC p.W587C MICALL2_ENST00000405088.4_Missense_Mutation_p.W375C NM_182924.3 NP_891554.1 Q8IY33 MILK2_HUMAN MICAL-like 2 587 cytoplasm|cytoskeleton zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2) 19 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) GATTCGCTCTCCATCCTGCCG 0.617000 17 38 0 0 1 0 0 CLDN16 10686 broad.mit.edu 37 3 190126160 190126160 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:190126160C>G ENST00000264734.2 + 4 898 c.650C>G c.(649-651)tCt>tGt p.S217C CLDN16_ENST00000456423.1_Intron NM_006580.3 NP_006571.1 Q9Y5I7 CLD16_HUMAN claudin 16 217 calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion integral to membrane|tight junction identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1) 19 all_cancers(143;3.61e-10)|Ovarian(172;0.0991) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.018) GTGGAACGTTCTACTTTGGTT 0.433000 39 115 0 0 1 0 0 PPP1R26 9858 broad.mit.edu 37 9 138378017 138378017 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr9:138378017G>A ENST00000356818.2 + 4 2210 c.1661G>A c.(1660-1662)aGa>aAa p.R554K PPP1R26_ENST00000401470.3_Missense_Mutation_p.R554K|PPP1R26_ENST00000604351.1_Missense_Mutation_p.R554K|PPP1R26_ENST00000605660.1_Missense_Mutation_p.R554K|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Missense_Mutation_p.R554K NM_014811.3 NP_055626.3 Q5T8A7 K0649_HUMAN protein phosphatase 1, regulatory subunit 26 554 nucleolus protein binding TTGCTGGCCAGAGGTGAGAGC 0.607000 69 63 0 0 1 0 0 GSTA5 221357 broad.mit.edu 37 6 52701150 52701150 + Silent SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr6:52701150G>A ENST00000370989.2 - 3 185 c.156C>T c.(154-156)ttC>ttT p.F52F GSTA5_ENST00000284562.2_Silent_p.F52F|GSTA5_ENST00000475052.1_Intron Q7RTV2 GSTA5_HUMAN glutathione S-transferase alpha 5 GST N-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Lung NSC(77;0.0912) Glutathione(DB00143) GTACTTGCTGGAACAGCAAAC 0.403000 11 53 0 0 1 0 0 RNF123 63891 broad.mit.edu 37 3 49743429 49743429 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:49743429C>T ENST00000327697.6 + 25 2463 c.2319C>T c.(2317-2319)tcC>tcT p.S773S RNF123_ENST00000432042.1_Silent_p.S627S NM_022064.3 NP_071347.2 Q5XPI4 RN123_HUMAN ring finger protein 123 773 cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) TGGGTGTCTCCGATGATGTCA 0.587000 15 56 0 0 1 0 0 TMEM201 199953 broad.mit.edu 37 1 9661438 9661438 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr1:9661438G>C ENST00000340305.5 + 5 891 c.882G>C c.(880-882)caG>caC p.Q294H TMEM201_ENST00000377376.4_Missense_Mutation_p.Q294H|TMEM201_ENST00000340381.6_Missense_Mutation_p.Q294H NM_001010866.3 NP_001010866.1 Q5SNT2 TM201_HUMAN transmembrane protein 201 294 integral to membrane|nuclear inner membrane lung(3)|upper_aerodigestive_tract(1) 4 all_lung(157;0.222) all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419) CCTTTGGGCAGAGCCACCAGA 0.682000 12 62 0 0 1 0 0 BBS2 583 broad.mit.edu 37 16 56548567 56548567 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr16:56548567C>T ENST00000245157.5 - 2 563 c.143G>A c.(142-144)cGg>cAg p.R48Q BBS2_ENST00000568104.1_Missense_Mutation_p.R48Q NM_031885.3 NP_114091 Q9BXC9 BBS2_HUMAN Bardet-Biedl syndrome 2 48 adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development BBSome|cilium membrane|microtubule basal body|motile cilium protein binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3) 26 ATGCTGGTTCCGTGTATGAGG 0.378000 Bardet-Biedl syndrome 7 19 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10071088 10071088 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr19:10071088C>T ENST00000264828.3 - 67 5322 c.5237G>A c.(5236-5238)tGa>tAa p.*1746* NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 0 collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) CGGACACTCTCAGCTGCTGAA 0.572000 15 25 0 0 1 0 0 UNG 7374 broad.mit.edu 37 12 109536371 109536371 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr12:109536371C>T ENST00000336865.2 + 1 449 c.240C>T c.(238-240)aaC>aaT p.N80N UNG_ENST00000242576.2_Silent_p.N89N NM_003362.3 NP_003353.1 P13051 UNG_HUMAN uracil-DNA glycosylase 89 base-excision repair|interspecies interaction between organisms mitochondrion|nucleus protein binding|uracil DNA N-glycosylase activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 9 CGGCCCGCAACGTGCCCGTGG 0.607000 Base excision repair (BER), DNA glycosylases Immune Deficiency with Hyper-IgM 23 90 0 0 1 0 0 TLN2 83660 broad.mit.edu 37 15 63092906 63092906 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr15:63092906G>A ENST00000561311.1 + 49 6645 c.6415G>A c.(6415-6417)Gag>Aag p.E2139K TLN2_ENST00000306829.6_Missense_Mutation_p.E2139K Q9Y4G6 TLN2_HUMAN talin 2 2139 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 AGTGGAGGATGAGGCCACCCG 0.537000 5 14 0 0 1 0 0 ROCK1 6093 broad.mit.edu 37 18 18546939 18546939 + Silent SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr18:18546939G>A ENST00000399799.2 - 27 4231 c.3291C>T c.(3289-3291)ctC>ctT p.L1097L NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) TAGAATCCGAGAGGTCCAAAA 0.398000 18 45 0 0 1 0 0 USPL1 10208 broad.mit.edu 37 13 31231834 31231834 + Silent SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr13:31231834C>G ENST00000255304.4 + 9 1962 c.1620C>G c.(1618-1620)gcC>gcG p.A540A NM_005800.4 NP_005791.3 Q5W0Q7 USPL1_HUMAN ubiquitin specific peptidase like 1 540 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3) 34 Lung SC(185;0.0257)|Breast(139;0.203) all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134) GTGATGCTGCCTCAGCTGAAA 0.438000 22 66 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142640639 142640639 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr7:142640639G>C ENST00000355265.2 - 15 2111 c.1637C>G c.(1636-1638)tCt>tGt p.S546C NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 546 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) CACATGGTCAGATACCGAATA 0.552000 13 38 0 0 1 0 0 UBE2D3 7323 broad.mit.edu 37 4 103747657 103747657 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr4:103747657C>T ENST00000453744.2 - 2 522 c.9G>A c.(7-9)ctG>ctA p.L3L UBE2D3_ENST00000357194.6_Intron|UBE2D3_ENST00000513098.1_5'UTR|UBE2D3_ENST00000338145.3_Silent_p.L3L|UBE2D3_ENST00000394804.2_Silent_p.L3L|UBE2D3_ENST00000321805.7_Silent_p.L3L|UBE2D3_ENST00000394803.5_Silent_p.L3L|UBE2D3_ENST00000349311.8_Silent_p.L3L|UBE2D3_ENST00000394801.4_Silent_p.L3L|UBE2D3_ENST00000343106.5_Silent_p.L3L NM_181891.1 NP_871620.1 P61077 UB2D3_HUMAN ubiquitin-conjugating enzyme E2D 3 3 apoptosis|BMP signaling pathway|DNA repair|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway endosome membrane|plasma membrane ATP binding|protein binding|ubiquitin-protein ligase activity kidney(1)|lung(3)|skin(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.13e-08) TAATCCGTTTCAGCGCCATAG 0.572000 38 74 0 0 1 0 0 TTC21A 199223 broad.mit.edu 37 3 39175793 39175793 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:39175793G>A ENST00000301819.6 + 21 3037 c.2860G>A c.(2860-2862)Gag>Aag p.E954K TTC21A_ENST00000440121.1_Missense_Mutation_p.E905K|TTC21A_ENST00000431162.2_Missense_Mutation_p.E953K|TTC21A_ENST00000493856.1_3'UTR NM_145755.2 NP_665698.2 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A 953 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) CCTGCAGACTGAGCAGAACCA 0.637000 53 100 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195501046 195501046 + Silent SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:195501046G>C ENST00000463781.3 - 4 13533 c.13074C>G c.(13072-13074)ctC>ctG p.L4358L MUC4_ENST00000346145.4_Silent_p.L122L|MUC4_ENST00000475231.1_Silent_p.L4358L|MUC4_ENST00000349607.4_Silent_p.L71L NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1115 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GACTCACGTAGAGGGAATCAC 0.647000 7 23 0 0 1 0 0 PSPC1 55269 broad.mit.edu 37 13 20356840 20356840 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr13:20356840G>A ENST00000338910.4 - 1 217 c.58C>T c.(58-60)Cgc>Tgc p.R20C NM_001042414.2 NP_001035879.1 Q8WXF1 PSPC1_HUMAN paraspeckle component 1 20 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleolus nucleotide binding|protein binding|RNA binding breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483) TCCAGGGCGCGAAGGCGGGCC 0.667000 12 39 0 0 1 0 0 MAP2K3 5606 broad.mit.edu 37 17 21204284 21204284 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr17:21204284C>T ENST00000342679.4 + 5 627 c.378C>T c.(376-378)ttC>ttT p.F126F MAP2K3_ENST00000361818.5_Silent_p.F97F|MAP2K3_ENST00000316920.6_Silent_p.F97F NM_145109.2 NP_659731.1 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 126 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) CTGTCACCTTCTACGGGGCAC 0.587000 22 72 0 0 1 0 0 UNC45B 146862 broad.mit.edu 37 17 33507596 33507596 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr17:33507596G>C ENST00000268876.5 + 18 2377 c.2280G>C c.(2278-2280)gaG>gaC p.E760D UNC45B_ENST00000394570.2_Missense_Mutation_p.E758D|UNC45B_ENST00000433649.1_Missense_Mutation_p.E758D|UNC45B_ENST00000591048.1_Missense_Mutation_p.E679D|UNC45B_ENST00000378449.1_Missense_Mutation_p.E679D NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 760 cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) TCTTTAAGGAGAGGGCCTTGC 0.547000 13 28 0 0 1 0 0 MIP 4284 broad.mit.edu 37 12 56847525 56847525 + Silent SNP C C A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr12:56847525C>A ENST00000257979.4 - 2 403 c.375G>T c.(373-375)gtG>gtT p.V125V MIP_ENST00000555551.1_5'UTR NM_012064.3 NP_036196.1 P30301 MIP_HUMAN major intrinsic protein of lens fiber 125 response to stimulus|visual perception gap junction|integral to plasma membrane structural constituent of eye lens kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1) 16 GGCCCACGCTCACCGCAGGGT 0.572000 8 12 0.0381472 0.0383852 1 1 0 LIN54 132660 broad.mit.edu 37 4 83905480 83905480 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr4:83905480G>A ENST00000340417.3 - 2 895 c.518C>T c.(517-519)tCa>tTa p.S173L LIN54_ENST00000446851.2_Intron|LIN54_ENST00000506560.1_Missense_Mutation_p.S173L|LIN54_ENST00000510557.1_Intron|LIN54_ENST00000505397.1_Missense_Mutation_p.S173L|LIN54_ENST00000442461.2_Intron|LIN54_ENST00000395283.2_Missense_Mutation_p.S173L|LIN54_ENST00000395282.2_Missense_Mutation_p.S173L NM_194282.2 NP_919258.2 Q6MZP7 LIN54_HUMAN lin-54 homolog (C. elegans) 173 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5) 14 Hepatocellular(203;0.114) AGCATCTCCTGACTGGGCCTG 0.468000 10 40 0 0 1 0 0 AC005609.1 0 broad.mit.edu 37 5 140242621 140242621 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr5:140242621C>G ENST00000502505.1 - 1 603 c.355G>C c.(355-357)Gat>Cat p.D119H PCDHA10_ENST00000506939.2_Intron|PCDHA14_ENST00000562220.1_RNA|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron ACAGCTGCATCTGTCAGCTGG 0.637000 9 13 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39854154 39854154 + Nonsense_Mutation SNP G G T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr1:39854154G>T ENST00000564288.1 + 58 16417 c.15640G>T c.(15640-15642)Gag>Tag p.E5214* MACF1_ENST00000361689.2_Nonsense_Mutation_p.E3152*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.E5251*|MACF1_ENST00000317713.7_Nonsense_Mutation_p.E3152*|MACF1_ENST00000539005.1_Nonsense_Mutation_p.E3131*|MACF1_ENST00000545844.1_Nonsense_Mutation_p.E3152*|MACF1_ENST00000372915.3_Nonsense_Mutation_p.E5219*|MACF1_ENST00000289893.4_Nonsense_Mutation_p.E3654* Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 5219 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CAAACTGACAGAGAGGGGGAA 0.502000 12 24 4.3838e-07 4.59255e-07 1 1 0 ADCY8 114 broad.mit.edu 37 8 132052131 132052131 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr8:132052131C>T ENST00000286355.5 - 1 2541 c.449G>A c.(448-450)cGa>cAa p.R150Q ADCY8_ENST00000377928.3_Missense_Mutation_p.R150Q NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 150 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding p.R150Q(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) AATGACCCCTCGGTAGCTATA 0.577000 HNSCC(32;0.087) 35 12 0 0 1 0 0 SLC9A1 6548 broad.mit.edu 37 1 27480786 27480786 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr1:27480786G>A ENST00000263980.3 - 1 615 c.40C>T c.(40-42)Cgg>Tgg p.R14W SLC9A1_ENST00000374086.3_Missense_Mutation_p.R14W|SLC9A1_ENST00000545949.1_5'UTR NM_003047.4 NP_003038.2 P19634 SL9A1_HUMAN solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1 14 regulation of pH integral to membrane sodium:hydrogen antiporter activity central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046) Amiloride(DB00594) GGGAAGATCCGATGTGGAGAG 0.582000 12 49 0 0 1 0 0 HERPUD2 64224 broad.mit.edu 37 7 35675001 35675001 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr7:35675001G>C ENST00000396081.1 - 6 1489 c.685C>G c.(685-687)Cta>Gta p.L229V HERPUD2_ENST00000426180.1_5'UTR|HERPUD2_ENST00000311350.3_Missense_Mutation_p.L229V NM_022373.4 NP_071768.3 Q9BSE4 HERP2_HUMAN HERPUD family member 2 229 response to unfolded protein integral to membrane kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1) 18 GCCAAATTTAGAGGCTGTGAA 0.433000 25 53 0 0 1 0 0 OXCT1 5019 broad.mit.edu 37 5 41870449 41870449 + Silent SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr5:41870449G>C ENST00000196371.5 - 1 172 c.12C>G c.(10-12)ctC>ctG p.L4L OXCT1-AS1_ENST00000508458.1_RNA NM_000436.3 NP_000427.1 P55809 SCOT1_HUMAN 3-oxoacid CoA transferase 1 4 cellular lipid metabolic process|ketone body catabolic process mitochondrial matrix 3-oxoacid CoA-transferase activity|protein homodimerization activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2) 28 Succinic acid(DB00139) AGAGGAGTTTGAGAGCCGCCA 0.677000 5 15 0 0 1 0 0 ACTN2 88 broad.mit.edu 37 1 236918478 236918478 + Missense_Mutation SNP C C A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr1:236918478C>A ENST00000366578.4 + 17 2300 c.2134C>A c.(2134-2136)Cac>Aac p.H712N ACTN2_ENST00000542672.1_Missense_Mutation_p.H712N|ACTN2_ENST00000546208.1_Missense_Mutation_p.H206N NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 712 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) TGACAACAAGCACACGAACTA 0.532000 44 102 1.8453e-21 2.00252e-21 1 1 0 NR2C2 7182 broad.mit.edu 37 3 15073941 15073941 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:15073941C>T ENST00000425241.1 + 10 1528 c.1166C>T c.(1165-1167)tCt>tTt p.S389F NR2C2_ENST00000406272.2_Missense_Mutation_p.S389F|NR2C2_ENST00000478572.1_3'UTR|NR2C2_ENST00000393102.3_Missense_Mutation_p.S389F|NR2C2_ENST00000323373.6_Missense_Mutation_p.S408F P49116 NR2C2_HUMAN nuclear receptor subfamily 2, group C, member 2 389 Ligand-binding (By similarity). cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 ATCTGTGAGTCTGCATCCCGT 0.542000 28 83 0 0 1 0 0 DPYSL4 10570 broad.mit.edu 37 10 134013861 134013861 + Splice_Site SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr10:134013861G>A ENST00000338492.4 + 9 977 c.813G>A c.(811-813)ggG>ggA p.G271G DPYSL4_ENST00000368627.1_Splice_Site_p.G171G|DPYSL4_ENST00000368629.1_Splice_Site_p.G171G NM_006426.2 NP_006417.2 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 271 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) GTGCTGCAGGGGTGGTCGTGT 0.657000 11 36 0 0 1 0 0 KIF20A 10112 broad.mit.edu 37 5 137519714 137519714 + Silent SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr5:137519714G>A ENST00000394894.3 + 11 1498 c.1272G>A c.(1270-1272)ttG>ttA p.L424L KIF20A_ENST00000508792.1_Silent_p.L406L NM_005733.2 NP_005724.1 O95235 KI20A_HUMAN kinesin family member 20A 424 Kinesin-motor. cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport Golgi apparatus|microtubule|nucleoplasm ATP binding|microtubule motor activity|protein binding|transporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1) 27 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GTGAACGGTTGAAGGAAGCAG 0.502000 18 45 0 0 1 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209200522 209200522 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr2:209200522C>T ENST00000264380.4 + 26 4420 c.4262C>T c.(4261-4263)tCa>tTa p.S1421L PIKFYVE_ENST00000474721.1_3'UTR NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 1421 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 GTTAGAGTTTCACAGGTATAT 0.299000 10 25 0 0 1 0 0 ZC3HC1 51530 broad.mit.edu 37 7 129691095 129691095 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr7:129691095C>T ENST00000358303.4 - 1 196 c.112G>A c.(112-114)Gag>Aag p.E38K ZC3HC1_ENST00000311873.5_Start_Codon_SNP_p.M1I|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.E38K|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.E38K NM_016478.3 NP_057562.3 Q86WB0 NIPA_HUMAN zinc finger, C3HC-type containing 1 38 cell division|mitosis nucleus protein kinase binding|zinc ion binding endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1) 22 Melanoma(18;0.0435) GCAATCCCCTCATCTATCAGC 0.587000 17 44 0 0 1 0 0 KCTD13 253980 broad.mit.edu 37 16 29918373 29918373 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr16:29918373C>T ENST00000568000.1 - 6 1811 c.810G>A c.(808-810)gaG>gaA p.E270E NM_178863.3 NP_849194.1 Q8WZ19 BACD1_HUMAN potassium channel tetramerization domain containing 13 270 cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex GTP-Rho binding|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2) 7 CCCGGGGAGTCTCGTAGATGA 0.652000 7 36 0 0 1 0 0 TSPEAR 54084 broad.mit.edu 37 21 45949708 45949708 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr21:45949708C>T ENST00000323084.4 - 5 828 c.763G>A c.(763-765)Gat>Aat p.D255N TSPEAR_ENST00000397916.1_Missense_Mutation_p.D187N NM_001272037.1|NM_144991.2 NP_001258966.1|NP_659428.2 Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats 255 cell adhesion extracellular region structural molecule activity breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 ACCTCGTTATCTTCTGGCTTC 0.642000 10 42 0 0 1 0 0 ABCG4 64137 broad.mit.edu 37 11 119031756 119031756 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr11:119031756C>T ENST00000307417.3 + 15 2245 c.1881C>T c.(1879-1881)ttC>ttT p.F627F ABCG4_ENST00000449422.2_Silent_p.F627F|ABCG4_ENST00000531739.1_Silent_p.F627F NM_022169.4 NP_071452.2 Q9H172 ABCG4_HUMAN ATP-binding cassette, sub-family G (WHITE), member 4 627 ABC transmembrane type-2. cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1) 44 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) GCATCTTCTTCCTAGCCCTGC 0.612000 18 33 0 0 1 0 0 TRIM25 7706 broad.mit.edu 37 17 54969498 54969498 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr17:54969498G>C ENST00000316881.4 - 9 1505 c.1456C>G c.(1456-1458)Cag>Gag p.Q486E TRIM25_ENST00000537230.1_Missense_Mutation_p.Q486E NM_005082.4 NP_005073.2 Q14258 TRI25_HUMAN tripartite motif containing 25 486 B30.2/SPRY. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus cell junction|cytosol|nucleus sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(9;6.15e-08) CGGTAGTTCTGAGGCATCTCA 0.527000 29 48 0 0 1 0 0 USP32 84669 broad.mit.edu 37 17 58270257 58270257 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr17:58270257G>C ENST00000300896.4 - 28 3663 c.3469C>G c.(3469-3471)Cta>Gta p.L1157V USP32_ENST00000592339.1_Missense_Mutation_p.L827V NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 1157 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) ACAACTCGTAGAGTGAATGGA 0.413000 8 26 0 0 1 0 0 HPGDS 27306 broad.mit.edu 37 4 95229825 95229825 + Missense_Mutation SNP A A T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr4:95229825A>T ENST00000295256.5 - 4 386 c.296T>A c.(295-297)aTg>aAg p.M99K HPGDS_ENST00000514774.1_5'UTR NM_014485.2 NP_055300.1 O60760 HPGDS_HUMAN hematopoietic prostaglandin D synthase 99 GST C-terminal. locomotory behavior|prostaglandin biosynthetic process|signal transduction cytoplasm|nucleus calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1) 7 Glutathione(DB00143) AAAACATGACATGAAATCATC 0.388000 14 53 0 0 1 0 0 MYH10 4628 broad.mit.edu 37 17 8415901 8415901 + Missense_Mutation SNP C C A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr17:8415901C>A ENST00000360416.3 - 24 2958 c.2820G>T c.(2818-2820)atG>atT p.M940I MYH10_ENST00000379980.4_Missense_Mutation_p.M925I|MYH10_ENST00000396239.1_Missense_Mutation_p.M930I|MYH10_ENST00000269243.4_Missense_Mutation_p.M909I NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 909 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 GTCTTGCCCTCATCTCTTCTG 0.403000 7 15 5.18039e-06 5.40368e-06 1 1 0 SLIT2 9353 broad.mit.edu 37 4 20552484 20552484 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr4:20552484G>A ENST00000504154.1 + 25 2776 c.2524G>A c.(2524-2526)Gaa>Aaa p.E842K SLIT2_ENST00000273739.5_Missense_Mutation_p.E846K|SLIT2_ENST00000503837.1_Missense_Mutation_p.E838K|SLIT2_ENST00000503823.1_Missense_Mutation_p.E834K|SLIT2_ENST00000509394.2_3'UTR NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 842 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TGTTGTGCCTGAAGGTGCTTT 0.343000 5 22 0 0 1 0 0 ARL2-SNX15 100528018 broad.mit.edu 37 11 64781688 64781688 + Silent SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr11:64781688C>G ENST00000301886.3 + 1 35 c.9C>G c.(7-9)ctC>ctG p.L3L ARL2_ENST00000533729.1_Silent_p.L3L|ARL2_ENST00000246747.4_Silent_p.L3L|ARL2_ENST00000529384.1_Silent_p.L3L CCATGGGGCTCCTGACCATTC 0.662000 6 14 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 35733432 35733432 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr13:35733432G>C ENST00000540320.1 + 22 3658 c.3124G>C c.(3124-3126)Gat>Cat p.D1042H NBEA_ENST00000400445.3_Missense_Mutation_p.D1042H|NBEA_ENST00000379939.2_Missense_Mutation_p.D1042H|NBEA_ENST00000310336.4_Missense_Mutation_p.D1042H Q8NFP9 NBEA_HUMAN neurobeachin 1042 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TGGAAATTCAGATAGACCAGG 0.408000 11 27 0 0 1 0 0 KDM4A 9682 broad.mit.edu 37 1 44128717 44128717 + Silent SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr1:44128717C>G ENST00000372396.3 + 5 716 c.582C>G c.(580-582)ctC>ctG p.L194L KDM4A_ENST00000463151.1_3'UTR NM_014663.2 NP_055478.2 O75164 KDM4A_HUMAN lysine (K)-specific demethylase 4A 194 JmjC. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleolus histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 ACATGGACCTCTACAGCATCA 0.512000 24 62 0 0 1 0 0 PTPRO 5800 broad.mit.edu 37 12 15637019 15637019 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr12:15637019G>A ENST00000281171.4 + 2 517 c.187G>A c.(187-189)Gaa>Aaa p.E63K PTPRO_ENST00000348962.2_Missense_Mutation_p.E63K|PTPRO_ENST00000543886.1_Missense_Mutation_p.E63K NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 63 Fibronectin type-III 1. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) GATAACTGGTGAATCCAAAAA 0.368000 7 12 0 0 1 0 0 PALB2 79728 broad.mit.edu 37 16 23641139 23641139 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr16:23641139G>A ENST00000261584.4 - 5 2488 c.2336C>T c.(2335-2337)tCa>tTa p.S779L NM_024675.3 NP_078951.2 Q86YC2 PALB2_HUMAN partner and localizer of BRCA2 779 double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3) 55 GBM - Glioblastoma multiforme(48;0.0167) TGGGCTGCCTGAACTGTCGAA 0.522000 """F, N, Mis""" """Wilms tumor, medulloblastoma, AML ,breast""" Involved in tolerance or repair of DNA crosslinks 4 19 0 0 1 0 0 SLC6A17 388662 broad.mit.edu 37 1 110709770 110709770 + Missense_Mutation SNP G G T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr1:110709770G>T ENST00000331565.4 + 2 704 c.219G>T c.(217-219)caG>caT p.Q73H RP5-1028L10.1_ENST00000430098.1_RNA|RP5-1028L10.1_ENST00000418579.1_RNA|RP5-1028L10.1_ENST00000443008.1_RNA NM_001010898.2 NP_001010898.1 Q9H1V8 S6A17_HUMAN solute carrier family 6 (neutral amino acid transporter), member 17 73 alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) TCCTGGCCCAGATTGGCTTCT 0.612000 9 18 4.68919e-08 4.94459e-08 1 1 0 CLTC 1213 broad.mit.edu 37 17 57762430 57762430 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr17:57762430C>T ENST00000269122.3 + 29 4722 c.4448C>T c.(4447-4449)tCa>tTa p.S1483L CLTC_ENST00000579456.1_Missense_Mutation_p.S420L|CLTC_ENST00000393043.1_Missense_Mutation_p.S1483L NM_004859.3 NP_004850.1 Q00610 CLH1_HUMAN clathrin, heavy chain (Hc) 1483 Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) breast(2)|large_intestine(6)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) CTGCGAACATCAATAGATGCT 0.368000 T """ALK, TFE3""" """ALCL, renal """ 13 38 0 0 1 0 0 TRIM23 373 broad.mit.edu 37 5 64900773 64900773 + Missense_Mutation SNP G G T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr5:64900773G>T ENST00000231524.9 - 7 1515 c.1144C>A c.(1144-1146)Cag>Aag p.Q382K TRIM23_ENST00000381018.3_Missense_Mutation_p.Q382K|TRIM23_ENST00000274327.7_Missense_Mutation_p.Q382K NM_001656.3 NP_001647.1 P36406 TRI23_HUMAN tripartite motif containing 23 382 interspecies interaction between organisms|small GTPase mediated signal transduction Golgi membrane|lysosomal membrane enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 28 Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234) Lung(70;0.00473) GCATCCAACTGAATGTGATCT 0.363000 14 41 1.05317e-09 1.12276e-09 1 1 0 EML1 2009 broad.mit.edu 37 14 100405642 100405642 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr14:100405642C>T ENST00000262233.6 + 21 2439 c.2300C>T c.(2299-2301)tCa>tTa p.S767L EML1_ENST00000334192.4_Missense_Mutation_p.S786L|EML1_ENST00000327921.9_Missense_Mutation_p.S755L NM_004434.2 NP_004425.2 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 767 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Melanoma(154;0.0879)|all_epithelial(191;0.216) CACCTCTTCTCATACCCCTGC 0.537000 18 29 0 0 1 0 0 TRIP13 9319 broad.mit.edu 37 5 893162 893162 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr5:893162G>A ENST00000166345.3 + 1 405 c.49G>A c.(49-51)Gag>Aag p.E17K NM_004237.3 NP_004228.1 Q15645 PCH2_HUMAN thyroid hormone receptor interactor 13 17 double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 18 Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165) CTGTGTGGCCGAGTCGCCAAC 0.731000 3 8 0 0 1 0 0 PTGIS 5740 broad.mit.edu 37 20 48129668 48129668 + Silent SNP G G T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr20:48129668G>T ENST00000244043.4 - 8 1184 c.1155C>A c.(1153-1155)ctC>ctA p.L385L PTGIS_ENST00000478971.1_5'UTR NM_000961.3 NP_000952.1 Q16647 PTGIS_HUMAN prostaglandin I2 (prostacyclin) synthase 385 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) Phenylbutazone(DB00812) GGAAGGGGAAGAGGAGGAGGC 0.607000 19 67 1.96292e-10 2.10189e-10 1 1 0 PHLPP1 23239 broad.mit.edu 37 18 60646311 60646311 + Nonsense_Mutation SNP G G T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr18:60646311G>T ENST00000400316.4 + 17 5046 c.3265G>T c.(3265-3267)Gag>Tag p.E1089* PHLPP1_ENST00000262719.5_Nonsense_Mutation_p.E1601* NM_194449.3 NP_919431.2 O60346 PHLP1_HUMAN PH domain and leucine rich repeat protein phosphatase 1 1601 apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(2)|lung(13) 17 CAGCGCCAACGAGGATGAGCC 0.622000 9 22 2.17888e-05 2.26304e-05 1 1 0 KIF26A 26153 broad.mit.edu 37 14 104641567 104641567 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr14:104641567C>T ENST00000315264.7 + 11 2403 c.2025C>T c.(2023-2025)ttC>ttT p.F675F KIF26A_ENST00000423312.2_Silent_p.F814F Q9ULI4 KI26A_HUMAN kinesin family member 26A 814 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 21 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) CGCCTGACTTCGTGCCCATCA 0.692000 11 11 0 0 1 0 0 CDH12 1010 broad.mit.edu 37 5 21817178 21817178 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr5:21817178G>A ENST00000382254.1 - 9 1964 c.878C>T c.(877-879)gCt>gTt p.A293V CDH12_ENST00000522262.1_Missense_Mutation_p.A253V|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.A293V NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 293 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 AGGATCCACAGCTCTTATTCT 0.388000 HNSCC(59;0.17) 12 33 0 0 1 0 0 GTF2F1 2962 broad.mit.edu 37 19 6387440 6387440 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr19:6387440G>A ENST00000394456.5 - 5 921 c.457C>T c.(457-459)Cgc>Tgc p.R153C GTF2F1_ENST00000429701.2_Intron|CTB-180A7.6_ENST00000599584.1_RNA NM_002096.2 NP_002087.2 P35269 T2FA_HUMAN general transcription factor IIF, polypeptide 1, 74kDa 153 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cell junction|transcription factor TFIIF complex catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4) 16 GTGAGCGTGCGATGCCGGGCC 0.632000 18 60 0 0 1 0 0 ZIM3 114026 broad.mit.edu 37 19 57647074 57647074 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr19:57647074C>G ENST00000269834.1 - 5 1016 c.631G>C c.(631-633)Gat>Cat p.D211H NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 211 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGATGTTTATCAAGCTTCCAC 0.433000 30 72 0 0 1 0 0 NKAP 79576 broad.mit.edu 37 X 119063990 119063990 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chrX:119063990C>T ENST00000371410.3 - 8 1228 c.1062G>A c.(1060-1062)atG>atA p.M354I NKAP_ENST00000477789.1_5'UTR NM_024528.3 NP_078804.2 Q8N5F7 NKAP_HUMAN NFKB activating protein 354 Necessary for interaction with HDAC3 and transcriptional repression. negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|protein binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1) 20 TGCTACCACTCATTACATAAC 0.348000 25 19 0 0 1 0 0 PEX12 5193 broad.mit.edu 37 17 33904291 33904291 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr17:33904291G>C ENST00000225873.4 - 2 1053 c.446C>G c.(445-447)tCt>tGt p.S149C NM_000286.2 NP_000277.1 O00623 PEX12_HUMAN peroxisomal biogenesis factor 12 149 protein import into peroxisome matrix integral to peroxisomal membrane protein C-terminus binding|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8) 18 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CCAGCGGGAAGAAGGGGGATG 0.448000 18 29 0 0 1 0 0 RAI14 26064 broad.mit.edu 37 5 34812041 34812041 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr5:34812041C>G ENST00000265109.3 + 9 1014 c.727C>G c.(727-729)Cag>Gag p.Q243E RAI14_ENST00000397449.1_Missense_Mutation_p.Q236E|RAI14_ENST00000503673.1_Missense_Mutation_p.Q243E|RAI14_ENST00000515799.1_Missense_Mutation_p.Q246E|RAI14_ENST00000428746.2_Missense_Mutation_p.Q243E|RAI14_ENST00000512629.1_Missense_Mutation_p.Q243E|RAI14_ENST00000506376.1_Missense_Mutation_p.Q235E NM_001145522.1|NM_015577.2 NP_001138994.1|NP_056392.2 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 243 cell cortex|cytoskeleton protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(31;0.000191) AAAAATCTCTCAGGATGCTGG 0.333000 6 19 0 0 1 0 0 MCC 4163 broad.mit.edu 37 5 112479015 112479015 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr5:112479015C>G ENST00000302475.4 - 3 777 c.214G>C c.(214-216)Gag>Cag p.E72Q MCC_ENST00000408903.3_Missense_Mutation_p.E262Q|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.E9Q NM_002387.2 NP_002378 P23508 CRCM_HUMAN mutated in colorectal cancers 72 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) GTCGTTCGCTCCTGGACATCC 0.527000 5 28 0 0 1 0 0 DGKA 1606 broad.mit.edu 37 12 56334743 56334743 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr12:56334743G>C ENST00000331886.5 + 13 1534 c.1080G>C c.(1078-1080)ttG>ttC p.L360F DGKA_ENST00000394147.1_Missense_Mutation_p.L360F|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Missense_Mutation_p.L360F NM_001345.4 NP_001336.2 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 360 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1) 25 Vitamin E(DB00163) ATTTAAATTTGAGCACCTCTG 0.507000 4 13 0 0 1 0 0 UHRF1BP1 54887 broad.mit.edu 37 6 34826003 34826003 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr6:34826003C>T ENST00000192788.5 + 14 2041 c.1870C>T c.(1870-1872)Cca>Tca p.P624S UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.P624S NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 624 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 ACGTCATGCTCCACATTGTAG 0.507000 10 45 0 0 1 0 0 ABR 29 broad.mit.edu 37 17 959301 959301 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr17:959301G>C ENST00000544583.2 - 14 1996 c.1397C>G c.(1396-1398)tCt>tGt p.S466C ABR_ENST00000536794.2_Missense_Mutation_p.S294C|ABR_ENST00000291107.2_Missense_Mutation_p.S475C|ABR_ENST00000574437.1_Missense_Mutation_p.S466C|ABR_ENST00000302538.5_Missense_Mutation_p.S512C|ABR_ENST00000573895.1_5'UTR NM_001159746.2 NP_001153218.1 Q12979 ABR_HUMAN active BCR-related 512 C2. 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 GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) TCCCTTGGCAGAGTGGACGAT 0.582000 OREG0024067 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 32 0 0 1 0 0 FRMD5 84978 broad.mit.edu 37 15 44180390 44180390 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr15:44180390C>T ENST00000417257.1 - 10 1043 c.867G>A c.(865-867)gaG>gaA p.E289E FRMD5_ENST00000402883.1_Silent_p.E289E|FRMD5_ENST00000484674.1_Silent_p.E195E NM_032892.3 NP_116281.2 Q7Z6J6 FRMD5_HUMAN FERM domain containing 5 289 FERM. cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275) all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06) AGGCTTGGTTCTCGATTCCAC 0.448000 11 25 0 0 1 0 0 PPL 5493 broad.mit.edu 37 16 4934788 4934788 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr16:4934788C>G ENST00000345988.2 - 22 3957 c.3868G>C c.(3868-3870)Gag>Cag p.E1290Q PPL_ENST00000590782.2_Missense_Mutation_p.E1288Q NM_002705.4 NP_002696 O60437 PEPL_HUMAN periplakin 1290 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 TGGACCACCTCTTTGGTCTGG 0.507000 27 90 0 0 1 0 0 PTH1R 5745 broad.mit.edu 37 3 46943273 46943273 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:46943273C>T ENST00000313049.5 + 11 1337 c.1134C>T c.(1132-1134)ttC>ttT p.F378F PTH1R_ENST00000449590.1_Silent_p.F378F|PTH1R_ENST00000418619.1_Silent_p.F378F|PTH1R_ENST00000430002.2_Silent_p.F378F Q03431 PTH1R_HUMAN parathyroid hormone 1 receptor 378 cytoplasm|integral to plasma membrane|nucleus parathyroid hormone receptor activity|peptide hormone binding|protein self-association breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2) 19 TCATCCTCTTCATCAATATCG 0.657000 17 35 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108216934 108216934 + Missense_Mutation SNP T T C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:108216934T>C ENST00000273353.3 - 7 699 c.643A>G c.(643-645)Acc>Gcc p.T215A NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 215 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 GCTGCTATGGTGGCAAAATAC 0.408000 4 75 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179421681 179421681 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr2:179421681C>G ENST00000589042.1 - 330 88424 c.88200G>C c.(88198-88200)ttG>ttC p.L29400F TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L20527F|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L20460F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L20335F|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L27759F|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L26832F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 27759 Fibronectin type-III 114. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AATTCTGAGTCAAGCCAGAGA 0.453000 14 20 0 0 1 0 0 CDK17 5128 broad.mit.edu 37 12 96704910 96704910 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr12:96704910C>T ENST00000261211.3 - 5 1066 c.463G>A c.(463-465)Gat>Aat p.D155N CDK17_ENST00000542666.1_Missense_Mutation_p.D102N|CDK17_ENST00000543119.2_Missense_Mutation_p.D155N NM_001170464.2|NM_002595.4 NP_001163935.1|NP_002586.2 Q00537 CDK17_HUMAN cyclin-dependent kinase 17 155 ATP binding|cyclin-dependent protein kinase activity breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1) 37 AGATATCCATCAGGTATTCTG 0.373000 9 40 0 0 1 0 0 ZNF425 155054 broad.mit.edu 37 7 148801215 148801215 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr7:148801215G>A ENST00000378061.2 - 4 1880 c.1748C>T c.(1747-1749)gCg>gTg p.A583V NM_001001661.2 NP_001001661.1 Q6IV72 ZN425_HUMAN zinc finger protein 425 583 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) CTCACCGCACGCGAAGGGCTT 0.602000 11 41 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178916810 178916810 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:178916810C>G ENST00000263967.3 + 2 354 c.197C>G c.(196-198)tCt>tGt p.S66C NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 66 PI3K-ABD. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) CAAGATGAATCTTCTTACATT 0.358000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 15 41 0 0 1 0 0 RAPGEF2 9693 broad.mit.edu 37 4 160262807 160262807 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr4:160262807C>G ENST00000264431.4 + 14 2562 c.2143C>G c.(2143-2145)Cag>Gag p.Q715E NM_014247.2 NP_055062.1 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor (GEF) 2 715 cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 70 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) TTCCCTCCTTCAGCTCAGCAC 0.363000 6 18 0 0 1 0 0 CHD9 80205 broad.mit.edu 37 16 53326744 53326744 + Splice_Site SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr16:53326744G>C ENST00000566029.1 + 29 5499 c.e29-1 CHD9_ENST00000447540.1_Splice_Site|CHD9_ENST00000398510.3_Splice_Site|CHD9_ENST00000564845.1_Splice_Site Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) TTTAACTATAGATGGTCAACT 0.333000 10 27 0 0 1 0 0 NBAS 51594 broad.mit.edu 37 2 15693566 15693566 + Missense_Mutation SNP G G T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr2:15693566G>T ENST00000281513.5 - 5 344 c.319C>A c.(319-321)Cag>Aag p.Q107K NBAS_ENST00000441750.1_Missense_Mutation_p.Q107K NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 107 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 TCCACACACTGATCTTGAACA 0.318000 3 10 0.014758 0.0149432 1 1 0 SGOL1 151648 broad.mit.edu 37 3 20215771 20215771 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:20215771C>G ENST00000412997.1 - 6 1603 c.1252G>C c.(1252-1254)Gag>Cag p.E418Q SGOL1_ENST00000421451.1_Missense_Mutation_p.E418Q|SGOL1_ENST00000437051.1_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000412868.1_Missense_Mutation_p.E418Q|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000263753.4_Missense_Mutation_p.E418Q|SGOL1_ENST00000443724.1_Intron NM_001199251.1 NP_001186180.1 Q5FBB7 SGOL1_HUMAN shugoshin-like 1 (S. pombe) 418 attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole protein binding kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2) 14 TTAGAACCCTCCGTCTCTTTT 0.398000 6 31 0 0 1 0 0 SFXN2 118980 broad.mit.edu 37 10 104486809 104486809 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr10:104486809C>G ENST00000369893.5 + 3 394 c.227C>G c.(226-228)tCg>tGg p.S76W SFXN2_ENST00000602785.1_3'UTR NM_178858.4 NP_849189.1 Q96NB2 SFXN2_HUMAN sideroflexin 2 iron ion homeostasis integral to membrane cation transmembrane transporter activity p.S76L(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1) 13 Colorectal(252;0.207) Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218) CTGTATGACTCGGCCTTCCAC 0.592000 14 32 0 0 1 0 0 PCDHB4 56131 broad.mit.edu 37 5 140503379 140503379 + Nonsense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr5:140503379G>A ENST00000194152.1 + 1 1799 c.1799G>A c.(1798-1800)tGg>tAg p.W600* NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 600 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAGAACGCCTGGCTGTCGTAC 0.731000 27 87 0 0 1 0 0 ABHD16A 7920 broad.mit.edu 37 6 31656058 31656058 + Silent SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr6:31656058G>A ENST00000375842.4 - 15 1604 c.618C>T c.(616-618)atC>atT p.I206I ABHD16A_ENST00000395952.3_Silent_p.I425I|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000440843.2_Silent_p.I392I|ABHD16A_ENST00000471644.1_5'UTR O95870 ABHGA_HUMAN abhydrolase domain containing 16A 425 integral to membrane hydrolase activity|protein binding endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 10 TGGTTCTCCGGATCAGCAGTA 0.577000 22 55 0 0 1 0 0 ZKSCAN5 23660 broad.mit.edu 37 7 99103922 99103922 + Silent SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr7:99103922G>A ENST00000394170.2 + 2 506 c.255G>A c.(253-255)acG>acA p.T85T ZKSCAN5_ENST00000451158.1_Silent_p.T85T|ZKSCAN5_ENST00000326775.5_Silent_p.T85T NM_014569.3 NP_055384.1 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 85 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) AGCTGCACACGAAGGAGCAGA 0.612000 20 65 0 0 1 0 0 ANAPC5 51433 broad.mit.edu 37 12 121779868 121779868 + Nonsense_Mutation SNP C C A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr12:121779868C>A ENST00000261819.3 - 5 716 c.595G>T c.(595-597)Gag>Tag p.E199* ANAPC5_ENST00000541887.1_Nonsense_Mutation_p.E199*|ANAPC5_ENST00000536366.1_Nonsense_Mutation_p.E78*|ANAPC5_ENST00000344395.4_Nonsense_Mutation_p.E100*|ANAPC5_ENST00000441917.2_Nonsense_Mutation_p.E100* NM_016237.4 NP_057321.2 Q9UJX4 APC5_HUMAN anaphase promoting complex subunit 5 199 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3) 31 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GATACCTCCTCTTCTCTGGAA 0.303000 9 23 2.74318e-10 2.9309e-10 1 1 0 C1orf141 400757 broad.mit.edu 37 1 67592905 67592905 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr1:67592905C>G ENST00000371007.2 - 3 128 c.19G>C c.(19-21)Gag>Cag p.E7Q C1orf141_ENST00000371006.1_Missense_Mutation_p.E7Q|C1orf141_ENST00000544837.1_Missense_Mutation_p.E7Q NM_001276351.1 NP_001263280.1 Q5JVX7 CA141_HUMAN chromosome 1 open reading frame 141 7 NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1) 18 TCCAACTTCTCTAGGATTTTT 0.323000 12 39 0 0 1 0 0 IRAK3 11213 broad.mit.edu 37 12 66641487 66641487 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr12:66641487C>G ENST00000261233.4 + 12 1748 c.1327C>G c.(1327-1329)Ctt>Gtt p.L443V IRAK3_ENST00000457197.2_Missense_Mutation_p.L382V NM_007199.2 NP_009130.2 Q9Y616 IRAK3_HUMAN interleukin-1 receptor-associated kinase 3 443 Protein kinase. interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan cytoplasm|nucleus ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(28;0.0203) TTTAAATACTCTTGAAAGTAC 0.343000 6 12 0 0 1 0 0 AMIGO3 386724 broad.mit.edu 37 3 49755899 49755899 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:49755899C>T ENST00000535833.1 - 10 4450 c.1000G>A c.(1000-1002)Gac>Aac p.D334N AMIGO3_ENST00000320431.7_Missense_Mutation_p.D334N|RNF123_ENST00000497099.1_3'UTR|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000327697.6_Intron|RNF123_ENST00000433785.1_Intron Q86WK7 AMGO3_HUMAN adhesion molecule with Ig-like domain 3 334 Ig-like C2-type. heterophilic cell-cell adhesion integral to membrane endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) AAGCTGCCGTCGGCCAGCACC 0.667000 15 35 0 0 1 0 0 IRX5 10265 broad.mit.edu 37 16 54966719 54966719 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr16:54966719G>A ENST00000394636.4 + 2 896 c.559G>A c.(559-561)Gac>Aac p.D187N IRX5_ENST00000558597.1_Missense_Mutation_p.D121N|IRX5_ENST00000560154.1_Intron|IRX5_ENST00000320990.5_Missense_Mutation_p.D187N P78411 IRX5_HUMAN iroquois homeobox 5 187 Poly-Glu. response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding kidney(3)|large_intestine(6)|lung(4)|prostate(1) 14 CCGCAGCGAGGACGAGGAAGA 0.627000 39 80 0 0 1 0 0 PLXNB1 5364 broad.mit.edu 37 3 48461549 48461549 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:48461549G>A ENST00000358536.4 - 11 2415 c.2146C>T c.(2146-2148)Ccc>Tcc p.P716S PLXNB1_ENST00000358459.4_Intron|PLXNB1_ENST00000456774.1_Intron|PLXNB1_ENST00000296440.6_Missense_Mutation_p.P716S|PLXNB1_ENST00000448774.2_Intron NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 716 Pro-rich. axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GCTGTGGAGGGAGCCCCAGGC 0.672000 5 11 0 0 1 0 0 BPIFB3 359710 broad.mit.edu 37 20 31643271 31643271 + Silent SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr20:31643271C>G ENST00000375494.3 + 1 42 c.42C>G c.(40-42)ctC>ctG p.L14L NM_182658.1 NP_872599.1 P59826 LPLC3_HUMAN BPI fold containing family B, member 3 14 Leu-rich. innate immune response cytoplasm|extracellular region lipid binding|protein binding TGCTTCTGCTCTGGGGCCTGG 0.607000 24 72 0 0 1 0 0 PTGIS 5740 broad.mit.edu 37 20 48129776 48129776 + Silent SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr20:48129776G>C ENST00000244043.4 - 8 1076 c.1047C>G c.(1045-1047)ctC>ctG p.L349L PTGIS_ENST00000478971.1_5'UTR NM_000961.3 NP_000952.1 Q16647 PTGIS_HUMAN prostaglandin I2 (prostacyclin) synthase 349 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) Phenylbutazone(DB00812) CTGTAAGCCTGAGGCTCTCAC 0.592000 10 24 0 0 1 0 0 OBSL1 23363 broad.mit.edu 37 2 220429983 220429983 + Silent SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr2:220429983G>A ENST00000404537.1 - 6 2444 c.2388C>T c.(2386-2388)ttC>ttT p.F796F OBSL1_ENST00000373876.1_Silent_p.F796F|OBSL1_ENST00000373873.4_Silent_p.F796F|OBSL1_ENST00000603926.1_Silent_p.F796F|OBSL1_ENST00000265318.4_Silent_p.F796F|OBSL1_ENST00000289656.3_Silent_p.F383F NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 796 Ig-like 5. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) TGACGCCGAAGAAGGCCGAGA 0.607000 4 15 0 0 1 0 0 LMO7 4008 broad.mit.edu 37 13 76381694 76381694 + Silent SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr13:76381694C>G ENST00000357063.3 + 11 2691 c.1431C>G c.(1429-1431)ccC>ccG p.P477P LMO7_ENST00000321797.8_Silent_p.P192P|LMO7_ENST00000465261.2_Silent_p.P192P|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000377534.3_Silent_p.P477P|LMO7_ENST00000341547.4_Intron Q8WWI1 LMO7_HUMAN LIM domain 7 477 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) AAATTGATCCCACTTCTGGCC 0.468000 8 19 0 0 1 0 0 MAGEB10 139422 broad.mit.edu 37 X 27839490 27839490 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chrX:27839490G>A ENST00000356790.2 + 3 312 c.67G>A c.(67-69)Gaa>Aaa p.E23K NM_182506.3 NP_872312.2 Q96LZ2 MAGBA_HUMAN melanoma antigen family B, 10 23 NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 AGGAGGGCTGGAAGATTTGAT 0.512000 9 9 0 0 1 0 0 GRIP2 80852 broad.mit.edu 37 3 14564571 14564571 + RNA SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:14564571C>T ENST00000273083.3 - 0 567 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 TGCCCATCTTCATGGGCACCT 0.612000 13 58 0 0 1 0 0 ZNF800 168850 broad.mit.edu 37 7 127015047 127015047 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr7:127015047C>T ENST00000393313.1 - 5 934 c.343G>A c.(343-345)Gat>Aat p.D115N ZNF800_ENST00000393312.1_Missense_Mutation_p.D115N|ZNF800_ENST00000265827.3_Missense_Mutation_p.D115N Q2TB10 ZN800_HUMAN zinc finger protein 800 115 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 32 TCTAGGAGATCATTTATGGCT 0.328000 8 10 0 0 1 0 0 TRIM28 10155 broad.mit.edu 37 19 59059491 59059491 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr19:59059491G>A ENST00000253024.5 + 7 1334 c.1045G>A c.(1045-1047)Gcc>Acc p.A349T TRIM28_ENST00000341753.6_Missense_Mutation_p.A267T NM_005762.2 NP_005753.1 Q13263 TIF1B_HUMAN tripartite motif containing 28 349 Leucine zipper alpha helical coiled-coil region.|RBCC domain. epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent nucleoplasm chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) TCTGCGCTTTGCCTCTTGGGC 0.577000 40 112 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34383868 34383868 + Missense_Mutation SNP C C A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr1:34383868C>A ENST00000373381.4 - 5 923 c.747G>T c.(745-747)caG>caT p.Q249H NM_001281956.1|NM_052896.3 NP_001268885.1|NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 209 CUB 2. integral to membrane|plasma membrane protein binding p.Q209H(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGATGCCACTCTGGCCCCGCA 0.592000 4 17 1.23904e-05 1.28967e-05 1 1 0 VTI1B 10490 broad.mit.edu 37 14 68118155 68118155 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr14:68118155C>G ENST00000554659.1 - 6 987 c.646G>C c.(646-648)Gag>Cag p.E216Q ARG2_ENST00000261783.3_3'UTR NM_006370.2 NP_006361.1 Q9UEU0 VTI1B_HUMAN vesicle transport through interaction with t-SNAREs 1B 216 cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis endomembrane system|integral to membrane endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1) 5 all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941) ATGGCGAGCTCCAGTAAGATG 0.443000 14 43 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38595906 38595906 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:38595906G>C ENST00000413689.1 - 27 4870 c.4677C>G c.(4675-4677)atC>atG p.I1559M SCN5A_ENST00000449557.2_Missense_Mutation_p.I1505M|SCN5A_ENST00000333535.4_Missense_Mutation_p.I1559M|SCN5A_ENST00000451551.2_Missense_Mutation_p.I1505M|SCN5A_ENST00000423572.2_Missense_Mutation_p.I1558M|SCN5A_ENST00000414099.2_Missense_Mutation_p.I1541M|SCN5A_ENST00000455624.2_Missense_Mutation_p.I1558M|SCN5A_ENST00000443581.1_Missense_Mutation_p.I1558M|SCN5A_ENST00000450102.2_Missense_Mutation_p.I1505M|SCN5A_ENST00000464652.1_5'UTR|SCN5A_ENST00000425664.1_Missense_Mutation_p.I1541M NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1559 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) TCTTGGCCAAGATGTTGATTT 0.488000 19 51 0 0 1 0 0 UBLCP1 134510 broad.mit.edu 37 5 158696038 158696038 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr5:158696038C>T ENST00000296786.6 + 2 441 c.115C>T c.(115-117)Ctt>Ttt p.L39F NM_145049.3 NP_659486.2 Q8WVY7 UBCP1_HUMAN ubiquitin-like domain containing CTD phosphatase 1 39 Ubiquitin-like. nucleus phosphoprotein phosphatase activity endometrium(1)|kidney(3)|large_intestine(4)|ovary(1) 9 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TACAGGAGTTCTTCCAGAACG 0.368000 11 31 0 0 1 0 0 ZNF800 168850 broad.mit.edu 37 7 127014801 127014801 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr7:127014801C>G ENST00000393313.1 - 5 1180 c.589G>C c.(589-591)Gag>Cag p.E197Q ZNF800_ENST00000393312.1_Missense_Mutation_p.E197Q|ZNF800_ENST00000265827.3_Missense_Mutation_p.E197Q Q2TB10 ZN800_HUMAN zinc finger protein 800 197 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 32 GTAACAATCTCAACAGGAGGG 0.443000 13 43 0 0 1 0 0 ERAP1 51752 broad.mit.edu 37 5 96136617 96136617 + Nonsense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr5:96136617G>C ENST00000296754.3 - 3 868 c.611C>G c.(610-612)tCa>tGa p.S204* ERAP1_ENST00000443439.2_Nonsense_Mutation_p.S204* NM_016442.3 NP_057526.3 Q9NZ08 ERAP1_HUMAN endoplasmic reticulum aminopeptidase 1 204 angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2) 19 all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244) all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071) AATTTTGATTGAGAAACTTGC 0.413000 6 27 0 0 1 0 0 ALPK3 57538 broad.mit.edu 37 15 85383866 85383866 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr15:85383866C>T ENST00000258888.5 + 5 2129 c.1962C>T c.(1960-1962)ctC>ctT p.L654L NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 654 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) AGGCACCCCTCAGGGCTAGAA 0.652000 16 31 0 0 1 0 0 TIRAP 114609 broad.mit.edu 37 11 126162883 126162883 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr11:126162883C>T ENST00000392679.1 + 4 862 c.579C>T c.(577-579)ttC>ttT p.F193F TIRAP_ENST00000392680.2_Silent_p.F193F|TIRAP_ENST00000392678.3_Silent_p.F193F|RP11-712L6.7_ENST00000533378.1_RNA P58753 TIRAP_HUMAN toll-interleukin 1 receptor (TIR) domain containing adaptor protein 193 TIR. 3'-UTR-mediated mRNA stabilization|cellular response to bacterial lipopeptide|cellular response to lipoteichoic acid|defense response to Gram-positive bacterium|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|myeloid cell differentiation|negative regulation of growth of symbiont in host|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 1 production|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-12 production|positive regulation of interleukin-15 production|positive regulation of interleukin-6 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of JNK cascade|positive regulation of neutrophil chemotaxis|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein homodimerization activity|positive regulation of toll-like receptor 2 signaling pathway|positive regulation of toll-like receptor 3 signaling pathway|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|regulation of interferon-beta production|response to lipopolysaccharide|TIRAP-dependent toll-like receptor 4 signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway endocytic vesicle|intrinsic to membrane|ruffle membrane phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|protein heterodimerization activity|protein homodimerization activity|protein kinase C delta binding|Toll-like receptor 2 binding|Toll-like receptor 4 binding|transmembrane receptor activity breast(1)|endometrium(1)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 6 all_hematologic(175;0.145) Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0739) AGCTCCGATTCATGTACTACG 0.612000 6 32 0 0 1 0 0 ACTN4 81 broad.mit.edu 37 19 39195575 39195575 + Splice_Site SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr19:39195575G>C ENST00000252699.2 + 4 475 c.399G>C c.(397-399)gaG>gaC p.E133D ACTN4_ENST00000390009.3_Intron|ACTN4_ENST00000424234.2_Intron NM_004924.4 NP_004915.2 O43707 ACTN4_HUMAN actinin, alpha 4 133 Actin-binding.|CH 1. platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3) 30 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TGTGTGCAGAGATTGTGGACG 0.567000 8 29 0 0 1 0 0 FAM86C2P 645332 broad.mit.edu 37 11 67560711 67560711 + RNA SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr11:67560711G>A ENST00000528089.1 - 0 1039 TCTTCGTAGGGAAACAGTTTC 0.512000 26 71 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11511499 11511499 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr17:11511499G>A ENST00000262442.4 + 2 539 c.471G>A c.(469-471)atG>atA p.M157I DNAH9_ENST00000454412.2_Missense_Mutation_p.M157I|DNAH9_ENST00000579828.1_Missense_Mutation_p.M157I NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GGCCCCACATGATATGTGAGG 0.512000 37 120 0 0 1 0 0 C19orf26 255057 broad.mit.edu 37 19 1235034 1235034 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr19:1235034C>T ENST00000590083.1 - 5 713 c.421G>A c.(421-423)Gag>Aag p.E141K C19orf26_ENST00000382477.2_Missense_Mutation_p.E135K|C19orf26_ENST00000215376.6_Missense_Mutation_p.E135K Q8N350 DOS_HUMAN chromosome 19 open reading frame 26 135 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 9 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGGCTCTGCTCAAACAGCGCC 0.706000 HNSCC(14;0.022) 7 16 0 0 1 0 0 TAF5L 27097 broad.mit.edu 37 1 229738101 229738101 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr1:229738101C>T ENST00000366675.3 - 4 901 c.813G>A c.(811-813)ttG>ttA p.L271L TAF5L_ENST00000258281.2_Silent_p.L271L|TAF5L_ENST00000366676.1_Silent_p.L271L NM_001025247.1 NP_001020418.1 O75529 TAF5L_HUMAN TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa 271 histone H3 acetylation|transcription from RNA polymerase II promoter STAGA complex|transcription factor TFTC complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1) 11 Breast(184;0.193)|Ovarian(103;0.249) Prostate(94;0.167) CTGCAGTGTTCAACAGCTGCT 0.473000 12 34 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144991766 144991766 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr8:144991766C>G ENST00000322810.4 - 32 12803 c.12634G>C c.(12634-12636)Gag>Cag p.E4212Q PLEC_ENST00000345136.3_Missense_Mutation_p.E4075Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E4079Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E4043Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E4075Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E4098Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E4061Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E4053Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E4102Q NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 4212 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TCGTTCATCTCCTCATCGAAG 0.632000 13 115 0 0 1 0 0 EPHA5 2044 broad.mit.edu 37 4 66467514 66467514 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr4:66467514G>A ENST00000273854.3 - 3 1355 c.755C>T c.(754-756)tCt>tTt p.S252F EPHA5_ENST00000432638.2_Missense_Mutation_p.S252F|EPHA5_ENST00000511294.1_Missense_Mutation_p.S252F|EPHA5_ENST00000354839.4_Missense_Mutation_p.S252F NM_001281765.1|NM_004439.5 NP_001268694.1|NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 252 Cys-rich. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 CAATTGGGAAGAATCAGCTCC 0.522000 TSP Lung(17;0.13) 11 24 0 0 1 0 0 RAB6B 51560 broad.mit.edu 37 3 133557045 133557045 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:133557045C>T ENST00000285208.4 - 6 809 c.460G>A c.(460-462)Gag>Aag p.E154K RAB6B_ENST00000543906.1_Missense_Mutation_p.E154K|RAB6B_ENST00000469959.1_Intron|RAB6B_ENST00000486858.1_Missense_Mutation_p.E141K NM_016577.3 NP_057661.3 Q9NRW1 RAB6B_HUMAN RAB6B, member RAS oncogene family 154 protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle|Golgi membrane GTP binding|GTPase activity|protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1) 11 GCACTGGTCTCAATGAACATG 0.612000 51 105 0 0 1 0 0 TEP1 7011 broad.mit.edu 37 14 20836992 20836992 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr14:20836992C>G ENST00000262715.5 - 54 7766 c.7726G>C c.(7726-7728)Gat>Cat p.D2576H TEP1_ENST00000556935.1_Missense_Mutation_p.D2468H NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 2576 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) AGCTTAACATCTCTGTCCTTC 0.532000 3 21 0 0 1 0 0 CLRN3 119467 broad.mit.edu 37 10 129676575 129676575 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr10:129676575C>T ENST00000368671.3 - 3 681 c.519G>A c.(517-519)acG>acA p.T173T NM_152311.3 NP_689524.1 Q8NCR9 CLRN3_HUMAN clarin 3 173 integral to membrane endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 6 all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235) AACTGTGGGTCGTTCCTTTAC 0.453000 33 79 0 0 1 0 0 CYP3A4 1576 broad.mit.edu 37 7 99355845 99355845 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr7:99355845G>C ENST00000354593.2 - 8 1076 c.973C>G c.(973-975)Ctg>Gtg p.L325V CYP3A4_ENST00000336411.2_Missense_Mutation_p.L475V P08684 CP3A4_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 4 475 alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) CTTAATTTCAGGGGGATCTGC 0.403000 4 21 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40116392 40116392 + Silent SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr20:40116392G>A ENST00000373233.3 - 14 2091 c.1914C>T c.(1912-1914)ttC>ttT p.F638F CHD6_ENST00000309279.7_Intron NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 638 Helicase ATP-binding. chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) TTAACAAACTGAAGAGCTCCT 0.448000 18 40 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46279860 46279860 + Silent SNP G G A rs151060280 byFrequency TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr20:46279860G>A ENST00000372004.3 + 20 3990 c.3774G>A c.(3772-3774)caG>caA p.Q1258Q NCOA3_ENST00000371998.3_Silent_p.Q1262Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1262 Acetyltransferase.|Poly-Gln. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding p.Q1262Q(1) breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 agcagcagcagcagcaacagc 0.567000 4 29 0 0 1 0 0 RABIF 5877 broad.mit.edu 37 1 202850297 202850297 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr1:202850297C>T ENST00000367262.3 - 2 217 c.181G>A c.(181-183)Gac>Aac p.D61N NM_002871.4 NP_002862.2 P47224 MSS4_HUMAN RAB interacting factor 61 cellular membrane fusion|protein transport|small GTPase mediated signal transduction guanyl-nucleotide exchange factor activity|zinc ion binding large_intestine(1)|lung(2)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(75;0.166) AGATCGCCGTCAGGATTGCTG 0.507000 11 21 0 0 1 0 0 AMOTL2 51421 broad.mit.edu 37 3 134079118 134079118 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:134079118C>G ENST00000514516.1 - 7 2065 c.1887G>C c.(1885-1887)caG>caC p.Q629H AMOTL2_ENST00000513145.1_Missense_Mutation_p.Q569H|AMOTL2_ENST00000249883.5_Missense_Mutation_p.Q571H|AMOTL2_ENST00000422605.2_Missense_Mutation_p.Q571H NM_001278683.1 NP_001265612.1 Q9Y2J4 AMOL2_HUMAN angiomotin like 2 571 endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 19 CCAAATACTTCTGCTCCCACT 0.607000 4 25 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5146314 5146314 + Nonsense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr5:5146314C>T ENST00000274181.7 + 3 385 c.247C>T c.(247-249)Cag>Tag p.Q83* ADAMTS16_ENST00000511368.1_Nonsense_Mutation_p.Q83*|CTD-2297D10.1_ENST00000514848.1_RNA NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 83 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 CATGCACCATCAGCGGCGGAG 0.542000 9 30 0 0 1 0 0 ABCB11 8647 broad.mit.edu 37 2 169828485 169828485 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr2:169828485C>T ENST00000263817.6 - 14 1634 c.1510G>A c.(1510-1512)Gag>Aag p.E504K NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 504 ABC transporter 1. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) AGAACTGGCTCTTGCTCCACT 0.483000 11 22 0 0 1 0 0 NEURL1 9148 broad.mit.edu 37 10 105331530 105331530 + Silent SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr10:105331530C>G ENST00000369780.4 + 3 1009 c.600C>G c.(598-600)ctC>ctG p.L200L NEURL_ENST00000369777.2_Silent_p.L183L|NEURL_ENST00000465048.1_3'UTR NM_004210.4 NP_004201.3 O76050 NEU1A_HUMAN 200 NHR 1. nervous system development perinuclear region of cytoplasm zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125) CCGACCCGCTCTGGGCCCTGG 0.667000 17 45 0 0 1 0 0 PCDHB10 56126 broad.mit.edu 37 5 140573047 140573047 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr5:140573047G>C ENST00000239446.4 + 1 1106 c.922G>C c.(922-924)Gat>Cat p.D308H NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 308 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGAATTGCTTGATTATGAGTT 0.368000 7 26 0 0 1 0 0 EPHA2 1969 broad.mit.edu 37 1 16460021 16460021 + Nonsense_Mutation SNP C C A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr1:16460021C>A ENST00000358432.5 - 10 1973 c.1819G>T c.(1819-1821)Gag>Tag p.E607* NM_004431.3 NP_004422.2 P29317 EPHA2_HUMAN EPH receptor A2 607 Mediates interaction with ARHGEF16 and ELMO2. activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) GGATGGATCTCGGTAGTGAAC 0.592000 8 25 0.000157383 0.000162071 1 1 0 NCOA3 8202 broad.mit.edu 37 20 46264434 46264434 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr20:46264434C>T ENST00000372004.3 + 11 1697 c.1481C>T c.(1480-1482)tCa>tTa p.S494L NCOA3_ENST00000371998.3_Missense_Mutation_p.S494L|NCOA3_ENST00000371997.3_Missense_Mutation_p.S504L|NCOA3_ENST00000341724.6_Missense_Mutation_p.S504L NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 494 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 AAGATAGCCTCACATCAGTTT 0.388000 12 38 0 0 1 0 0 PLVAP 83483 broad.mit.edu 37 19 17476730 17476730 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr19:17476730C>T ENST00000252590.4 - 3 605 c.544G>A c.(544-546)Gat>Aat p.D182N NM_031310.1 NP_112600.1 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 182 caveola|integral to membrane|perinuclear region of cytoplasm cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CTTTCCTTATCCTTAGTGCAA 0.537000 11 29 0 0 1 0 0 SCNM1 79005 broad.mit.edu 37 1 151141532 151141532 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr1:151141532G>A ENST00000368905.4 + 7 775 c.664G>A c.(664-666)Gag>Aag p.E222K NM_001204856.1|NM_024041.3 NP_001191785.1|NP_076946.1 Q9BWG6 SCNM1_HUMAN sodium channel modifier 1 222 mRNA processing|RNA splicing nucleus metal ion binding|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CTCTGATGAGGAGGAACCACC 0.428000 15 33 0 0 1 0 0 UBE2C 11065 broad.mit.edu 37 20 44442086 44442086 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr20:44442086G>A ENST00000356455.4 + 2 232 c.112G>A c.(112-114)Gag>Aag p.E38K UBE2C_ENST00000405520.1_5'UTR|UBE2C_ENST00000335046.3_Missense_Mutation_p.E38K|UBE2C_ENST00000372568.4_5'UTR|UBE2C_ENST00000243893.6_Missense_Mutation_p.E38K|UBE2C_ENST00000352551.5_Missense_Mutation_p.E38K NM_007019.2 NP_008950.1 O00762 UBE2C_HUMAN ubiquitin-conjugating enzyme E2C 38 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|exit from mitosis|free ubiquitin chain polymerization|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|positive regulation of exit from mitosis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|protein K48-linked ubiquitination|spindle organization anaphase-promoting complex|cytosol|nucleoplasm ATP binding|protein binding|ubiquitin-protein ligase activity large_intestine(2)|lung(2)|skin(1) 5 Myeloproliferative disorder(115;0.0122) GCTACAGCAGGAGCTGATGAC 0.522000 42 103 0 0 1 0 0 BARD1 580 broad.mit.edu 37 2 215634032 215634032 + Missense_Mutation SNP T T C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr2:215634032T>C ENST00000260947.4 - 5 1453 c.1319A>G c.(1318-1320)gAc>gGc p.D440G BARD1_ENST00000449967.2_Missense_Mutation_p.D296G NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1 NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1 Q99728 BARD1_HUMAN BRCA1 associated RING domain 1 440 cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1) 35 Renal(323;0.0243) Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) AGAAGGTATGTCGCCCTAGAA 0.328000 Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 8 8 0 0 1 0 0 OLFML1 283298 broad.mit.edu 37 11 7507225 7507225 + Missense_Mutation SNP G G C rs144696887 TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr11:7507225G>C ENST00000329293.3 + 1 513 c.119G>C c.(118-120)cGa>cCa p.R40P OLFML1_ENST00000530135.1_Missense_Mutation_p.R40P|CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000528758.1_Missense_Mutation_p.R40P NM_198474.3 NP_940876.2 Q6UWY5 OLFL1_HUMAN olfactomedin-like 1 40 extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2) 24 Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) CAGCGCTTTCGAGTCTTGGAG 0.502000 11 32 0 0 1 0 0 ZSCAN2 54993 broad.mit.edu 37 15 85164843 85164843 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr15:85164843C>T ENST00000448803.2 + 3 1709 c.1417C>T c.(1417-1419)Ccc>Tcc p.P473S ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000358472.3_Missense_Mutation_p.P323S|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.P472S|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.P473S NM_181877.3 NP_870992.2 Q7Z7L9 ZSCA2_HUMAN zinc finger and SCAN domain containing 2 473 cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1) 19 UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22) AGGGGAGAAACCCTACGAGTG 0.567000 9 33 0 0 1 0 0 SRD5A3 79644 broad.mit.edu 37 4 56230312 56230312 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr4:56230312G>A ENST00000264228.4 + 3 664 c.436G>A c.(436-438)Gag>Aag p.E146K SRD5A3-AS1_ENST00000433175.2_RNA|SRD5A3_ENST00000514398.1_3'UTR NM_024592.4 NP_078868.1 Q9H8P0 PORED_HUMAN steroid 5 alpha-reductase 3 146 androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process endoplasmic reticulum membrane|integral to membrane 3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 12 all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.0179) AAGACTCTTCGAGTGCCTCTA 0.483000 17 50 0 0 1 0 0 MST1R 4486 broad.mit.edu 37 3 49941018 49941018 + Nonsense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr3:49941018G>A ENST00000296474.3 - 1 52 c.25C>T c.(25-27)Cag>Tag p.Q9* CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Nonsense_Mutation_p.Q9* NM_002447.2 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 9 cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) AGGAAGGACTGAGGCAGCGGC 0.716000 23 42 0 0 1 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21795862 21795862 + Missense_Mutation SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr14:21795862C>T ENST00000206660.6 + 17 2791 c.2791C>T c.(2791-2793)Ccc>Tcc p.P931S RPGRIP1_ENST00000307974.4_Missense_Mutation_p.P290S|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.P588S|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.P893S|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.P931S|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.P257S Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 931 response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) TCCCTACATACCCCCTGAGAG 0.443000 6 22 0 0 1 0 0 PPM1D 8493 broad.mit.edu 37 17 58677815 58677815 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr17:58677815G>A ENST00000305921.3 + 1 272 c.40G>A c.(40-42)Gac>Aac p.D14N NM_003620.3 NP_003611.1 O15297 PPM1D_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1D 14 Interaction with CHEK1. negative regulation of cell proliferation|protein dephosphorylation|response to radiation nucleus|protein serine/threonine phosphatase complex metal ion binding|protein binding|protein serine/threonine phosphatase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 15 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;6.75e-12)|all cancers(12;1.96e-10) CGTCTTCTCCGACCAGGGCGG 0.677000 2 2 0 0 1 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40241358 40241358 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr15:40241358C>T ENST00000263791.5 + 4 445 c.402C>T c.(400-402)ctC>ctT p.L134L EIF2AK4_ENST00000382727.2_Silent_p.L134L|EIF2AK4_ENST00000559624.1_Silent_p.L134L NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 134 RWD. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) AGTCATTTCTCAGCGAGCATA 0.478000 29 92 0 0 1 0 0 PALB2 79728 broad.mit.edu 37 16 23641272 23641272 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr16:23641272G>C ENST00000261584.4 - 5 2355 c.2203C>G c.(2203-2205)Cca>Gca p.P735A NM_024675.3 NP_078951.2 Q86YC2 PALB2_HUMAN partner and localizer of BRCA2 735 double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3) 55 GBM - Glioblastoma multiforme(48;0.0167) CCAAAGGCTGGAGTAGTACCT 0.458000 """F, N, Mis""" """Wilms tumor, medulloblastoma, AML ,breast""" Involved in tolerance or repair of DNA crosslinks 10 44 0 0 1 0 0 SPTBN2 6712 broad.mit.edu 37 11 66454506 66454506 + Silent SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr11:66454506G>C ENST00000533211.1 - 36 7186 c.6855C>G c.(6853-6855)gtC>gtG p.V2285V SPTBN2_ENST00000309996.2_Silent_p.V2285V|SPTBN2_ENST00000529997.1_Silent_p.V2285V O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 2285 PH. actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 AATCAAAGGCGACGCTGCCCT 0.602000 32 75 0 0 1 0 0 MRPS17 51373 broad.mit.edu 37 7 56022676 56022676 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr7:56022676C>T ENST00000285298.4 + 3 327 c.198C>T c.(196-198)ctC>ctT p.L66L MRPS17_ENST00000426595.1_Silent_p.L161L NM_015969.2 NP_057053.1 Q9Y2R5 RT17_HUMAN mitochondrial ribosomal protein S17 66 translation mitochondrial small ribosomal subunit rRNA binding|structural constituent of ribosome kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 8 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TTGTGCTTCTCAGAGCTTTAC 0.443000 44 127 0 0 1 0 0 SVIL 6840 broad.mit.edu 37 10 29812539 29812539 + Missense_Mutation SNP C C G TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr10:29812539C>G ENST00000375398.2 - 17 3453 c.3004G>C c.(3004-3006)Gaa>Caa p.E1002Q SVIL_ENST00000375400.3_Missense_Mutation_p.E576Q|SVIL_ENST00000355867.4_Missense_Mutation_p.E1002Q O95425 SVIL_HUMAN supervillin 1002 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) TTCGCCCGTTCCAGGCTTCCT 0.517000 8 25 0 0 1 0 0 AGGF1 55109 broad.mit.edu 37 5 76332397 76332402 + In_Frame_Del DEL TAGCAA TAGCAA - rs9715897 TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr5:76332397_76332402delTAGCAA ENST00000312916.7 + 4 915_920 c.533_538delTAGCAA c.(532-540)ttagcaaca>tca p.178_180LAT>S AGGF1_ENST00000503538.1_3'UTR NM_018046.4 NP_060516.2 Q8N302 AGGF1_HUMAN angiogenic factor with G patch and FHA domains 1 178 angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis extracellular region|perinuclear region of cytoplasm eukaryotic cell surface binding|nucleic acid binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2) 20 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41) GCATCTGCATTAGCAACAGAAGATAC 0.388 12 39 --- --- --- --- LINC00174 285908 broad.mit.edu 37 7 65842264 65842264 + RNA DEL G G - TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr7:65842264delG ENST00000421767.1 - 0 3468 NR_026873.1 AGGGAAGCCTGGGGCCTACAA 0.726 2 4 --- --- --- --- PSD3 23362 broad.mit.edu 37 8 18490295 18490296 + Frame_Shift_Ins INS - - T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr8:18490295_18490296insT ENST00000440756.2 - 11 2345_2346 c.2243_2244insA c.(2242-2244)aagfs p.K748fs PSD3_ENST00000523619.1_Frame_Shift_Ins_p.K681fs|PSD3_ENST00000428502.2_Frame_Shift_Ins_p.K75fs|PSD3_ENST00000327040.8_Frame_Shift_Ins_p.K746fs|PSD3_ENST00000286485.8_Frame_Shift_Ins_p.K212fs Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 747 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) CTGAGGGAGACTTTTTTTTCTC 0.366 6 3 --- --- --- --- CTSF 8722 broad.mit.edu 37 11 66333631 66333633 + In_Frame_Del DEL CTC CTC - TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr11:66333631_66333633delCTC ENST00000310325.5 - 6 836_838 c.727_729delGAG c.(727-729)gagdel p.E243del NM_003793.3 NP_003784.2 Q9UBX1 CATF_HUMAN cathepsin F 243 proteolysis lysosome cysteine-type endopeptidase activity p.E243K(1) endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 19 TAGTGCGGAACTCCTCCTCTGCG 0.567 21 87 --- --- --- --- INO80E 283899 broad.mit.edu 37 16 30016653 30016653 + Frame_Shift_Del DEL C C - TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr16:30016653delC ENST00000563197.1 + 7 1642 c.625delC c.(625-627)cccfs p.P211fs INO80E_ENST00000567705.1_Frame_Shift_Del_p.P194fs|INO80E_ENST00000304516.7_Frame_Shift_Del_p.P172fs NM_173618.1 NP_775889.1 Q8NBZ0 IN80E_HUMAN INO80 complex subunit E 211 Pro-rich. DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex p.T212fs*3(1) endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1) 6 CCCTAAGATGCCCCCCCCCAC 0.672 2 4 --- --- --- --- NEUROD2 4761 broad.mit.edu 37 17 37761712 37761713 + Frame_Shift_Ins INS - - A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a610bfc5-a6ef-48a3-ad50-7f332d543e91 b50de34c-aaee-4dde-a1d7-dd023ed02390 g.chr17:37761712_37761713insA ENST00000302584.4 - 2 1360_1361 c.1140_1141insT c.(1138-1143)tttcatfs p.H381fs NM_006160.3 NP_006151.3 Q15784 NDF2_HUMAN neuronal differentiation 2 381 cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter nucleus E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(4) 8 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664) TCTCAGTTATGAAAAAACGCAT 0.614 7 5 --- --- --- ---