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 SPRY3 10251 broad.mit.edu 37 X 155004068 155004068 + Missense_Mutation SNP G G A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chrX:155004068G>A ENST00000302805.2 + 2 966 c.535G>A c.(535-537)Gag>Aag p.E179K NM_005840.1 NP_005831.1 O43610 SPY3_HUMAN sprouty homolog 3 (Drosophila) 179 Cys-rich.|SPR. multicellular organismal development|regulation of signal transduction cytoplasm|membrane all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TTGCTCTGCTGAGAGCCTCCT 0.587000 39 71 0 0 1 0 0 BTN2A3P 54718 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 3 57 0 0 1 0 0 LIPE 3991 broad.mit.edu 37 19 42910512 42910512 + Silent SNP C C T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr19:42910512C>T ENST00000244289.4 - 7 2442 c.2166G>A c.(2164-2166)gcG>gcA p.A722A LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000599276.1_RNA NM_005357.2 NP_005348.2 Q05469 LIPS_HUMAN lipase, hormone-sensitive 722 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) CACTGTCCCCCGCAAGGCAGA 0.662000 6 20 0 0 1 0 0 TRPM1 4308 broad.mit.edu 37 15 31360178 31360178 + Missense_Mutation SNP C C G TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr15:31360178C>G ENST00000542188.1 - 4 761 c.448G>C c.(448-450)Gag>Cag p.E150Q TRPM1_ENST00000397795.2_Missense_Mutation_p.E111Q|TRPM1_ENST00000256552.6_Missense_Mutation_p.E133Q NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 111 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) GGCTGCATCTCAAAGTTCTGG 0.532000 28 76 0 0 1 0 0 ENPP2 5168 broad.mit.edu 37 8 120631527 120631527 + Missense_Mutation SNP C C G TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr8:120631527C>G ENST00000427067.2 - 5 604 c.424G>C c.(424-426)Gat>Cat p.D142H ENPP2_ENST00000522826.1_Missense_Mutation_p.D146H|ENPP2_ENST00000075322.6_Missense_Mutation_p.D146H|ENPP2_ENST00000259486.6_Missense_Mutation_p.D146H Q13822 ENPP2_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 2 146 SMB 2. cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4) 69 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) CAGTCATCATCAACCCAATGC 0.383000 17 47 0 0 1 0 0 PNRC1 10957 broad.mit.edu 37 6 89790845 89790845 + Missense_Mutation SNP C C G TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr6:89790845C>G ENST00000336032.3 + 1 349 c.232C>G c.(232-234)Ctg>Gtg p.L78V PNRC1_ENST00000369472.1_Intron NM_006813.2 NP_006804.1 Q12796 PNRC1_HUMAN proline-rich nuclear receptor coactivator 1 78 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding endometrium(1)|large_intestine(2)|lung(3) 6 all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.102) TCCAGCAGCTCTGCCCAACCG 0.716000 Multiple Myeloma(7;0.094) 4 2 0 0 1 0 0 TYW1B 441250 broad.mit.edu 37 7 72081774 72081774 + RNA SNP A A G rs3015854 by1000genomes TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr7:72081774A>G ENST00000343721.5 - 0 851 TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000435769.2_RNA Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity GCCAGGGCACATGGGCCATGG 0.493000 11 53 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96523187 96523187 + Missense_Mutation SNP T T C TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr2:96523187T>C ENST00000456556.1 - 62 4034 c.3950A>G c.(3949-3951)cAa>cGa p.Q1317R ANKRD36C_ENST00000420871.2_Missense_Mutation_p.Q568R|ANKRD36C_ENST00000419039.2_Missense_Mutation_p.Q344R ankyrin repeat domain 36C breast(1)|endometrium(8)|kidney(5)|lung(4) 18 CCTAACTTTTTGGTGCAACTC 0.343000 6 15 0 0 1 0 0 TBC1D20 128637 broad.mit.edu 37 20 419427 419427 + Missense_Mutation SNP T T G TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr20:419427T>G ENST00000354200.4 - 8 1162 c.1015A>C c.(1015-1017)Atg>Ctg p.M339L TBC1D20_ENST00000461188.1_5'UTR NM_144628.2 NP_653229.1 Q96BZ9 TBC20_HUMAN TBC1 domain family, member 20 339 interspecies interaction between organisms integral to membrane|intracellular Rab GTPase activator activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 12 all_epithelial(17;0.228)|Breast(17;0.231) CGCAGCACCATATCAGGCCTC 0.537000 38 77 0 0 1 0 0 LAMA4 3910 broad.mit.edu 37 6 112575049 112575049 + Missense_Mutation SNP C C G TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr6:112575049C>G ENST00000368638.4 - 2 574 c.304G>C c.(304-306)Gag>Cag p.E102Q RP11-506B6.6_ENST00000590293.1_RNA|RP11-506B6.6_ENST00000588837.1_RNA|LAMA4_ENST00000424408.2_Intron|RP11-506B6.6_ENST00000590804.1_RNA|LAMA4_ENST00000230538.7_Intron|LAMA4_ENST00000389463.4_Intron|LAMA4_ENST00000431543.2_Intron|RP11-506B6.6_ENST00000585504.1_RNA|RP11-506B6.6_ENST00000433684.3_RNA|LAMA4_ENST00000453937.2_Missense_Mutation_p.E102Q|RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA|RP11-506B6.6_ENST00000590584.1_RNA|RP11-506B6.6_ENST00000587816.1_RNA|LAMA4_ENST00000522006.1_Intron|RP11-506B6.6_ENST00000585450.1_RNA Q16363 LAMA4_HUMAN laminin, alpha 4 0 Laminin EGF-like 1. 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) GTGAAACTCTCAAGGCACTGG 0.542000 5 26 0 0 1 0 0 TMTC1 83857 broad.mit.edu 37 12 29911635 29911635 + Splice_Site SNP A A T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr12:29911635A>T ENST00000256062.5 - 3 704 c.e3+1 TMTC1_ENST00000551659.1_Splice_Site|TMTC1_ENST00000381224.2_Splice_Site|TMTC1_ENST00000539277.1_Splice_Site|TMTC1_ENST00000552618.1_Splice_Site NM_175861.3 NP_787057.2 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat containing 1 integral to membrane binding breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) AGCTACACATACCTGTTGTAC 0.473000 3 19 0 0 1 0 0 HK3 3101 broad.mit.edu 37 5 176314551 176314551 + Nonsense_Mutation SNP G G A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr5:176314551G>A ENST00000292432.5 - 11 1592 c.1501C>T c.(1501-1503)Cag>Tag p.Q501* NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 501 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ATCTGTGCCTGAACCGCAGCC 0.682000 9 29 0 0 1 0 0 CTSH 1512 broad.mit.edu 37 15 79224774 79224774 + Silent SNP G G A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr15:79224774G>A ENST00000220166.5 - 6 541 c.432C>T c.(430-432)ttC>ttT p.F144F CTSH_ENST00000534533.1_5'UTR NM_004390.3 NP_004381.2 P09668 CATH_HUMAN cathepsin H 144 protein destabilization|proteolysis lysosome cysteine-type endopeptidase activity central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1) 10 CAGTGGTGGAGAAAGTCCAGC 0.622000 5 24 0 0 1 0 0 C1orf106 55765 broad.mit.edu 37 1 200877971 200877971 + Missense_Mutation SNP G G A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr1:200877971G>A ENST00000367342.4 + 7 1143 c.943G>A c.(943-945)Gaa>Aaa p.E315K C1orf106_ENST00000413687.2_Missense_Mutation_p.E230K NM_018265.3 NP_060735.3 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 315 Pro-rich. endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 TGGGAGCCCAGAACGGGCTCC 0.627000 15 41 0 0 1 0 0 PHF6 84295 broad.mit.edu 37 X 133527538 133527538 + Missense_Mutation SNP C C T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chrX:133527538C>T ENST00000332070.3 + 4 450 c.248C>T c.(247-249)tCt>tTt p.S83F PHF6_ENST00000416404.2_Missense_Mutation_p.S49F|PHF6_ENST00000370799.1_Missense_Mutation_p.S83F|PHF6_ENST00000370803.3_Missense_Mutation_p.S83F|PHF6_ENST00000394292.1_Missense_Mutation_p.S83F|PHF6_ENST00000370800.4_Missense_Mutation_p.S83F NM_032458.2 NP_115834.1 Q8IWS0 PHF6_HUMAN PHD finger protein 6 83 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1) 103 Acute lymphoblastic leukemia(192;0.000127) TAGATGTGTTCTTTGTGCCAT 0.368000 """F, N, Splice, Mis""" ETP ALL 40 68 0 0 1 0 0 LRP6 4040 broad.mit.edu 37 12 12301926 12301926 + Silent SNP C C G TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr12:12301926C>G ENST00000261349.4 - 14 3232 c.3156G>C c.(3154-3156)ctG>ctC p.L1052L LRP6_ENST00000543091.1_Silent_p.L1052L NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 1052 Beta-propeller 4. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) GCTCGCCTTTCAGCACCACTC 0.473000 39 101 0 0 1 0 0 GGT1 2678 broad.mit.edu 37 22 25010755 25010755 + Silent SNP G G A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr22:25010755G>A ENST00000400382.1 + 6 932 c.177G>A c.(175-177)cgG>cgA p.R59R GGT1_ENST00000406383.2_Silent_p.R59R|GGT1_ENST00000248923.4_Silent_p.R59R|GGT1_ENST00000400380.1_Silent_p.R59R|GGT1_ENST00000400383.1_Silent_p.R59R P19440 GGT1_HUMAN gamma-glutamyltransferase 1 59 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity|protein binding breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 40 Glutathione(DB00143) ATGCACTGCGGGACGGTGGCT 0.627000 10 27 0 0 1 0 0 ACSF2 80221 broad.mit.edu 37 17 48551110 48551110 + Missense_Mutation SNP C C G TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr17:48551110C>G ENST00000427954.2 + 14 1678 c.1635C>G c.(1633-1635)atC>atG p.I545M ACSF2_ENST00000506085.1_3'UTR|ACSF2_ENST00000300441.4_Missense_Mutation_p.I520M|ACSF2_ENST00000504392.1_Missense_Mutation_p.I477M|ACSF2_ENST00000541920.1_Missense_Mutation_p.I360M|ACSF2_ENST00000502667.1_Missense_Mutation_p.I507M Q96CM8 ACSF2_HUMAN acyl-CoA synthetase family member 2 520 fatty acid metabolic process mitochondrion ATP binding|ligase activity endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1) 13 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) GTGAGAACATCTACCCCGCAG 0.547000 10 99 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32032767 32032767 + Silent SNP G G A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr6:32032767G>A ENST00000375244.3 - 19 6873 c.6672C>T c.(6670-6672)ttC>ttT p.F2224F TNXB_ENST00000375247.2_Silent_p.F2224F P22105 TENX_HUMAN tenascin XB 2296 Fibronectin type-III 14. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 ACTGGACCAAGAAATGGTCAA 0.612000 12 22 0 0 1 0 0 DMC1 11144 broad.mit.edu 37 22 38917725 38917725 + Missense_Mutation SNP G G C TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr22:38917725G>C ENST00000216024.2 - 13 1117 c.841C>G c.(841-843)Cag>Gag p.Q281E DMC1_ENST00000428462.2_Missense_Mutation_p.Q226E NM_007068.2 NP_008999.2 Q14565 DMC1_HUMAN DNA meiotic recombinase 1 281 reciprocal meiotic recombination condensed nuclear chromosome ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 Melanoma(58;0.0286) GGATCTGCCTGAAAGCTGAAT 0.408000 Homologous recombination 35 93 0 0 1 0 0 ZNF507 22847 broad.mit.edu 37 19 32845418 32845418 + Missense_Mutation SNP A A G TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr19:32845418A>G ENST00000311921.4 + 2 1874 c.1682A>G c.(1681-1683)aAc>aGc p.N561S ZNF507_ENST00000544431.1_Missense_Mutation_p.N561S|ZNF507_ENST00000355898.5_Missense_Mutation_p.N561S NM_001136156.1|NM_014910.4 NP_001129628.1|NP_055725.2 Q8TCN5 ZN507_HUMAN zinc finger protein 507 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 31 Esophageal squamous(110;0.162) AACCAAAGCAACTCCACCTTG 0.438000 4 47 0 0 1 0 0 B4GALT3 8703 broad.mit.edu 37 1 161143713 161143713 + Silent SNP G G A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr1:161143713G>A ENST00000319769.5 - 5 838 c.616C>T c.(616-618)Ctg>Ttg p.L206L B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000495483.1_Intron|PPOX_ENST00000432542.2_Intron|B4GALT3_ENST00000367998.1_Silent_p.L206L|PPOX_ENST00000535223.1_Intron NM_001199873.1|NM_003779.3 NP_001186802.1|NP_003770.1 O60512 B4GT3_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3 206 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity cervix(1)|endometrium(5)|large_intestine(6)|lung(6) 18 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) N-Acetyl-D-glucosamine(DB00141) CACACATACAGATTGTGGTCA 0.537000 14 43 0 0 1 0 0 BZRAP1 9256 broad.mit.edu 37 17 56386652 56386652 + Silent SNP C C T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr17:56386652C>T ENST00000355701.3 - 22 4851 c.3981G>A c.(3979-3981)aaG>aaA p.K1327K BZRAP1_ENST00000268893.6_Silent_p.K1267K|BZRAP1_ENST00000343736.4_Silent_p.K1327K NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1327 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) TAAAGAGCTTCTTGCTACAGA 0.602000 6 34 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46298726 46298726 + Silent SNP G G A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr12:46298726G>A ENST00000334344.6 + 21 5545 c.5373G>A c.(5371-5373)aaG>aaA p.K1791K ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_3'UTR|ARID2_ENST00000444670.1_Silent_p.K1401K NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1791 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) GATTGTTAAAGAGACATGAAA 0.338000 """N, S, F""" hepatocellular carcinoma 5 24 0 0 1 0 0 GRHL2 79977 broad.mit.edu 37 8 102589686 102589686 + Silent SNP C C G TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr8:102589686C>G ENST00000251808.3 + 7 1280 c.942C>G c.(940-942)ctC>ctG p.L314L GRHL2_ENST00000395927.1_Silent_p.L298L NM_024915.3 NP_079191.2 Q6ISB3 GRHL2_HUMAN grainyhead-like 2 (Drosophila) 314 cytoplasm|nucleus DNA binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) ATGAACAGCTCAAATACTGGA 0.473000 10 113 0 0 1 0 0 JMY 133746 broad.mit.edu 37 5 78610630 78610630 + Missense_Mutation SNP G G A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr5:78610630G>A ENST00000396137.4 + 9 3077 c.2615G>A c.(2614-2616)cGg>cAg p.R872Q JMY_ENST00000412001.1_Intron NM_152405.4 NP_689618.4 Q8N9B5 JMY_HUMAN junction mediating and regulatory protein, p53 cofactor 872 'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter cell leading edge|cytoplasm|cytoskeleton|nucleus actin binding|transcription coactivator activity endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1) 16 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35) GTCAGTGCACGGAAGAAGCTC 0.488000 6 21 0 0 1 0 0 LEPRE1 64175 broad.mit.edu 37 1 43232181 43232181 + Missense_Mutation SNP G G T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr1:43232181G>T ENST00000236040.4 - 1 502 c.462C>A c.(460-462)ttC>ttA p.F154L LEPRE1_ENST00000397054.3_Missense_Mutation_p.F154L|LEPRE1_ENST00000296388.5_Missense_Mutation_p.F154L NM_001243246.1 NP_001230175.1 Q32P28 P3H1_HUMAN leucine proline-enriched proteoglycan (leprecan) 1 154 negative regulation of cell proliferation endoplasmic reticulum|proteinaceous extracellular matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3) 26 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TCTGCACCTTGAAGTAGGCGA 0.672000 3 8 6.4e-05 6.63558e-05 1 1 0 TPCN2 219931 broad.mit.edu 37 11 68822696 68822696 + Missense_Mutation SNP C C T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr11:68822696C>T ENST00000294309.3 + 4 406 c.305C>T c.(304-306)cCa>cTa p.P102L TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Missense_Mutation_p.P102L NM_139075.3 NP_620714.2 Q8NHX9 TPC2_HUMAN two pore segment channel 2 102 cellular calcium ion homeostasis|smooth muscle contraction endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 32 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) ATCGAGACCCCATCCTCACTC 0.592000 43 121 0 0 1 0 0 ERBB3 2065 broad.mit.edu 37 12 56488228 56488228 + Missense_Mutation SNP C C T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr12:56488228C>T ENST00000267101.3 + 15 2187 c.1747C>T c.(1747-1749)Ccc>Tcc p.P583S ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.P524S NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 583 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) TCGAGATGGGCCCCACTGTGT 0.527000 17 82 0 0 1 0 0 LOC146880 146880 broad.mit.edu 37 17 62758676 62758676 + RNA SNP C C G TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr17:62758676C>G ENST00000400873.3 - 0 1269 NR_026899.1 GGTGCTTATTCAAAGCAAATG 0.413000 3 30 0 0 1 0 0 IBTK 25998 broad.mit.edu 37 6 82950048 82950048 + Silent SNP G G A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr6:82950048G>A ENST00000306270.7 - 2 705 c.156C>T c.(154-156)ggC>ggT p.G52G IBTK_ENST00000510291.1_Silent_p.G52G|IBTK_ENST00000503631.1_Silent_p.G52G NM_015525.2 NP_056340.2 Q9P2D0 IBTK_HUMAN inhibitor of Bruton agammaglobulinemia tyrosine kinase 52 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) GGGCATTCCTGCCAAAAACAT 0.443000 4 40 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84606360 84606360 + Silent SNP G G A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr9:84606360G>A ENST00000344803.2 + 4 1022 c.975G>A c.(973-975)ccG>ccA p.P325P NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 AGACTTTTCCGGAAATGTTAT 0.483000 46 109 0 0 1 0 0 TMEM184C 55751 broad.mit.edu 37 4 148545957 148545957 + Missense_Mutation SNP G G C TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr4:148545957G>C ENST00000296582.3 + 4 868 c.294G>C c.(292-294)tgG>tgC p.W98C TMEM184C_ENST00000508208.1_Missense_Mutation_p.W98C NM_018241.2 NP_060711.2 Q9NVA4 T184C_HUMAN transmembrane protein 184C 98 integral to membrane breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1) 16 TTTCATAGTGGATAGCTTTGA 0.338000 6 32 0 0 1 0 0 DUOXA2 405753 broad.mit.edu 37 15 45409319 45409319 + Missense_Mutation SNP C C G TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr15:45409319C>G ENST00000323030.5 + 5 870 c.585C>G c.(583-585)aaC>aaG p.N195K NM_207581.3 NP_997464.2 Q1HG44 DOXA2_HUMAN dual oxidase maturation factor 2 195 protein transport endoplasmic reticulum membrane|integral to membrane all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659) TCCTCTCCAACGTGCTGCTCT 0.692000 4 26 0 0 1 0 0 PPM1H 57460 broad.mit.edu 37 12 63195765 63195765 + Missense_Mutation SNP G G C TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr12:63195765G>C ENST00000228705.6 - 3 887 c.587C>G c.(586-588)cCt>cGt p.P196R NM_020700.1 NP_065751.1 Q9ULR3 PPM1H_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1H 196 PP2C-like. phosphoprotein phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1) 18 GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209) GBM - Glioblastoma multiforme(28;0.0126) CGTGTTCTCAGGCTCCTCCCC 0.706000 13 55 0 0 1 0 0 CFL1 1072 broad.mit.edu 37 11 65623477 65623477 + Silent SNP G G A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr11:65623477G>A ENST00000525451.2 - 3 955 c.240C>T c.(238-240)tgC>tgT p.C80C CFL1_ENST00000531407.1_Silent_p.C63C|CFL1_ENST00000308162.5_Silent_p.C80C|CFL1_ENST00000527344.1_Silent_p.C63C|CFL1_ENST00000531413.1_Silent_p.C63C|CFL1_ENST00000524553.1_Silent_p.C63C|CFL1_ENST00000534769.1_Silent_p.C118C P23528 COF1_HUMAN cofilin 1 (non-muscle) 80 ADF-H. actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction cytoplasm|cytoskeleton|nuclear matrix actin binding breast(1)|kidney(1)|large_intestine(2)|lung(2) 6 READ - Rectum adenocarcinoma(159;0.169) GGGCATAGCGGCAGTCCTTAT 0.542000 31 72 0 0 1 0 0 DHX30 22907 broad.mit.edu 37 3 47887807 47887807 + Silent SNP G G A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr3:47887807G>A ENST00000446256.2 + 12 1700 c.1128G>A c.(1126-1128)caG>caA p.Q376Q DHX30_ENST00000445061.1_Silent_p.Q415Q|DHX30_ENST00000457607.1_Silent_p.Q443Q|DHX30_ENST00000348968.4_Silent_p.Q387Q NM_014966.3 NP_055781.2 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 30 415 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 37 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) GTCTCAGCCAGAGTCTGCTAG 0.622000 27 84 0 0 1 0 0 OLAH 55301 broad.mit.edu 37 10 15089297 15089297 + Missense_Mutation SNP G G A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr10:15089297G>A ENST00000378217.3 + 2 197 c.10G>A c.(10-12)Gga>Aga p.G4R OLAH_ENST00000378228.3_Missense_Mutation_p.G4R NM_018324.2 NP_060794.1 Q9NV23 SAST_HUMAN oleoyl-ACP hydrolase 4 fatty acid biosynthetic process myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity endometrium(2)|large_intestine(1)|lung(14)|stomach(1) 18 CATGGAGAGAGGAGACCAACC 0.562000 3 2 0 0 1 0 0 LOC146880 146880 broad.mit.edu 37 17 62758790 62758790 + RNA SNP C C T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr17:62758790C>T ENST00000400873.3 - 0 1155 NR_026899.1 TTTCGGTGCTCAACCGTGAAA 0.363000 4 32 0 0 1 0 0 DNAJC13 23317 broad.mit.edu 37 3 132226191 132226191 + Silent SNP A A G TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr3:132226191A>G ENST00000260818.6 + 43 5357 c.5109A>G c.(5107-5109)caA>caG p.Q1703Q NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 1703 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 CTACTTTCCAACTGGAGGTAA 0.343000 35 92 0 0 1 0 0 SMTNL1 219537 broad.mit.edu 37 11 57311169 57311169 + Missense_Mutation SNP C C T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr11:57311169C>T ENST00000457912.1 + 3 859 c.859C>T c.(859-861)Ccc>Tcc p.P287S SMTNL1_ENST00000527972.1_Missense_Mutation_p.P269S|SMTNL1_ENST00000399154.2_Missense_Mutation_p.P232S E9PPJ3 E9PPJ3_HUMAN smoothelin-like 1 269 endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 8 AGGGGTGATTCCCAGCTCCCC 0.637000 3 9 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39847678 39847678 + Missense_Mutation SNP G G C TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr1:39847678G>C ENST00000564288.1 + 56 14479 c.13702G>C c.(13702-13704)Gag>Cag p.E4568Q MACF1_ENST00000372915.3_Missense_Mutation_p.E4573Q|MACF1_ENST00000289893.4_Missense_Mutation_p.E3008Q|MACF1_ENST00000539005.1_Missense_Mutation_p.E2485Q|MACF1_ENST00000545844.1_Missense_Mutation_p.E2506Q|MACF1_ENST00000361689.2_Missense_Mutation_p.E2506Q|MACF1_ENST00000317713.7_Missense_Mutation_p.E2506Q|MACF1_ENST00000567887.1_Missense_Mutation_p.E4605Q Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 4573 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) AAGGCAGCTAGAGGAATCTGC 0.532000 19 50 0 0 1 0 0 PI4K2A 55361 broad.mit.edu 37 10 99416706 99416706 + Silent SNP G G T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr10:99416706G>T ENST00000370631.3 + 4 954 c.897G>T c.(895-897)gtG>gtT p.V299V PI4K2A_ENST00000555577.1_Silent_p.V269V|PI4K2A_ENST00000370649.3_Silent_p.V269V NM_018425.2 NP_060895.1 Q9BTU6 P4K2A_HUMAN phosphatidylinositol 4-kinase type 2 alpha 299 PI3K/PI4K. phosphatidylinositol biosynthetic process cytoplasm|integral to plasma membrane|membrane raft 1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1) 12 Colorectal(252;0.162) Epithelial(162;1.24e-10)|all cancers(201;1.2e-08) GGTTGGTGGTGCTGGATTACA 0.562000 9 34 0.0692343 0.0696464 1 1 0 STOM 2040 broad.mit.edu 37 9 124110341 124110341 + Silent SNP C C T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr9:124110341C>T ENST00000286713.2 - 6 629 c.612G>A c.(610-612)caG>caA p.Q204Q AL161784.1_ENST00000594963.1_Silent_p.L37L|STOM_ENST00000347359.2_Intron|STOM_ENST00000538954.1_Silent_p.Q153Q NM_001270526.1|NM_004099.5 NP_001257455.1|NP_004090.4 P27105 STOM_HUMAN stomatin 204 protein homooligomerization cytoskeleton|integral to plasma membrane|melanosome|membrane raft protein binding endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1) 6 OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137) CCATAGCTCTCTGGAGCTGCA 0.453000 21 73 0 0 1 0 0 OTOP3 347741 broad.mit.edu 37 17 72942938 72942938 + Missense_Mutation SNP G G T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr17:72942938G>T ENST00000328801.4 + 6 988 c.988G>T c.(988-990)Gca>Tca p.A330S NM_178233.1 NP_839947.1 Q7RTS5 OTOP3_HUMAN otopetrin 3 330 integral to membrane|intracellular zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_lung(278;0.151)|Lung NSC(278;0.185) CCCTGCCACCGCACCCTTCCA 0.637000 63 105 1.3268e-25 1.41918e-25 1 1 0 GLTP 51228 broad.mit.edu 37 12 110318125 110318125 + Missense_Mutation SNP C C T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr12:110318125C>T ENST00000318348.4 - 1 168 c.55G>A c.(55-57)Gag>Aag p.E19K GLTP_ENST00000544393.1_Missense_Mutation_p.E19K NM_016433.3 NP_057517.1 Q9NZD2 GLTP_HUMAN glycolipid transfer protein 19 cytoplasm glycolipid binding|glycolipid transporter activity endometrium(1)|kidney(1)|lung(1)|upper_aerodigestive_tract(1) 4 Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122) BRCA - Breast invasive adenocarcinoma(302;0.0025) GGCCCGGTCTCGATCTGCTTG 0.731000 4 17 0 0 1 0 0 PLXND1 23129 broad.mit.edu 37 3 129281952 129281952 + Missense_Mutation SNP G G C rs150232906 byFrequency TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr3:129281952G>C ENST00000393239.1 - 26 4831 c.4653C>G c.(4651-4653)atC>atG p.I1551M PLXND1_ENST00000324093.4_Missense_Mutation_p.I1551M Q9Y4D7 PLXD1_HUMAN plexin D1 1551 axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 GCTTGGCCTCGATGTTCTCCC 0.637000 6 33 0 0 1 0 0 TET1 80312 broad.mit.edu 37 10 70405515 70405515 + Nonsense_Mutation SNP C C G TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr10:70405515C>G ENST00000373644.4 + 4 3238 c.3029C>G c.(3028-3030)tCa>tGa p.S1010* NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 1010 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 ATACCAAAATCAAATTCATCC 0.328000 13 47 0 0 1 0 0 SNX6 58533 broad.mit.edu 37 14 35062350 35062350 + Missense_Mutation SNP C C G TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr14:35062350C>G ENST00000396526.3 - 7 767 c.271G>C c.(271-273)Gat>Cat p.D91H SNX6_ENST00000362031.4_Missense_Mutation_p.D219H|SNX6_ENST00000355110.5_Missense_Mutation_p.D95H|SNX6_ENST00000396534.3_Missense_Mutation_p.D91H Q9UNH7 SNX6_HUMAN sorting nexin 6 207 PX. cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi cytoplasmic vesicle membrane|early endosome membrane|nucleus phosphatidylinositol binding|protein homodimerization activity endometrium(4)|lung(1)|ovary(1) 6 Breast(36;0.0473)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.0245) AAGAAATCATCTACATCCTAT 0.284000 23 49 0 0 1 0 0 MSH4 4438 broad.mit.edu 37 1 76378435 76378435 + Missense_Mutation SNP G G T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr1:76378435G>T ENST00000263187.3 + 20 2778 c.2674G>T c.(2674-2676)Gcc>Tcc p.A892S NM_002440.3 NP_002431.2 O15457 MSH4_HUMAN mutS homolog 4 892 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 47 GTACCATCTAGCCACTAGGCT 0.353000 Mismatch excision repair (MMR) 7 20 0.0381472 0.0386041 1 1 0 ZNF236 7776 broad.mit.edu 37 18 74672699 74672699 + Silent SNP G G A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr18:74672699G>A ENST00000253159.8 + 30 5499 c.5301G>A c.(5299-5301)gtG>gtA p.V1767V ZNF236_ENST00000320610.9_Silent_p.V1769V NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 1767 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) CGCTGCAGGTGCACATGAAGA 0.547000 8 65 0 0 1 0 0 CDH12 1010 broad.mit.edu 37 5 21842319 21842319 + Silent SNP G G A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr5:21842319G>A ENST00000382254.1 - 8 1851 c.765C>T c.(763-765)gtC>gtT p.V255V CDH12_ENST00000504376.2_Silent_p.V255V|CDH12_ENST00000522262.1_Silent_p.V215V|CDH12_ENST00000521384.1_5'UTR NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 255 Cadherin 2. 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 GAGTGATGTTGACTATTGTTG 0.408000 HNSCC(59;0.17) 21 59 0 0 1 0 0 LINC01317 104355287 broad.mit.edu 37 2 33952672 33952672 + RNA SNP G G A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr2:33952672G>A ENST00000366209.2 + 0 68 MYADML_ENST00000474610.1_RNA TGGCGTGGTCGCGGGAACGGC 0.642000 11 22 0 0 1 0 0 KLF17 128209 broad.mit.edu 37 1 44595607 44595607 + Missense_Mutation SNP A A G TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr1:44595607A>G ENST00000372299.3 + 2 722 c.664A>G c.(664-666)Atg>Gtg p.M222V KLF17_ENST00000476802.1_Intron NM_173484.3 NP_775755.3 Q5JT82 KLF17_HUMAN Kruppel-like factor 17 222 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1) 18 Acute lymphoblastic leukemia(166;0.155) TGACCTTGGGATGCCCCCAGC 0.577000 9 47 0 0 1 0 0 FARP2 9855 broad.mit.edu 37 2 242371150 242371150 + Missense_Mutation SNP G G C TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr2:242371150G>C ENST00000264042.3 + 9 998 c.828G>C c.(826-828)aaG>aaC p.K276N FARP2_ENST00000373287.4_Missense_Mutation_p.K276N|FARP2_ENST00000545004.1_Missense_Mutation_p.K276N NM_014808.2 NP_055623.1 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 276 FERM. axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity p.K276K(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) TAAGCTTCAAGAGGAAAAGAT 0.299000 36 47 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 119097189 119097189 + Silent SNP C C G TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr9:119097189C>G ENST00000328252.3 + 13 3816 c.3447C>G c.(3445-3447)gtC>gtG p.V1149V PAPPA_ENST00000534838.1_Silent_p.V187V NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 1149 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 TCCCTGTGGTCCATGACCTCA 0.622000 7 29 0 0 1 0 0 PCDH1 5097 broad.mit.edu 37 5 141236880 141236880 + Missense_Mutation SNP C C T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr5:141236880C>T ENST00000287008.3 - 4 3403 c.3256G>A c.(3256-3258)Gag>Aag p.E1086K PCDH1_ENST00000503492.1_Missense_Mutation_p.E354K NM_032420.2 NP_115796.2 Q08174 PCDH1_HUMAN protocadherin 1 0 cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) TAGTGATCCTCAGGCAGGGCC 0.617000 10 19 0 0 1 0 0 PREPL 9581 broad.mit.edu 37 2 44571025 44571025 + Missense_Mutation SNP C C T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr2:44571025C>T ENST00000541738.1 - 4 594 c.208G>A c.(208-210)Gat>Aat p.D70N PREPL_ENST00000409957.1_Missense_Mutation_p.D70N|PREPL_ENST00000409272.1_Missense_Mutation_p.D159N|PREPL_ENST00000378520.3_Missense_Mutation_p.D159N|PREPL_ENST00000378511.3_Missense_Mutation_p.D159N|PREPL_ENST00000540817.1_5'UTR|PREPL_ENST00000409936.1_Missense_Mutation_p.D159N|PREPL_ENST00000410081.1_Missense_Mutation_p.D159N|PREPL_ENST00000409411.1_Missense_Mutation_p.D70N|PREPL_ENST00000260648.6_Missense_Mutation_p.D159N NM_001171617.1 NP_001165088.1 Q4J6C6 PPCEL_HUMAN prolyl endopeptidase-like 159 proteolysis cytosol serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CTGATACAATCAATGAAGGGC 0.343000 31 76 0 0 1 0 0 QRICH2 84074 broad.mit.edu 37 17 74273247 74273247 + Missense_Mutation SNP C C T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr17:74273247C>T ENST00000262765.5 - 16 4943 c.4764G>A c.(4762-4764)atG>atA p.M1588I NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 1588 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 CCCTGACCTTCATGGCAATCT 0.627000 19 34 0 0 1 0 0 KAT7 11143 broad.mit.edu 37 17 47895248 47895248 + Missense_Mutation SNP C C T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr17:47895248C>T ENST00000503935.2 + 9 1598 c.562C>T c.(562-564)Cgc>Tgc p.R188C KAT7_ENST00000513980.1_Intron|KAT7_ENST00000509773.1_Missense_Mutation_p.R234C|KAT7_ENST00000454930.2_Missense_Mutation_p.R205C|KAT7_ENST00000424009.2_Missense_Mutation_p.R314C|KAT7_ENST00000259021.4_Missense_Mutation_p.R344C|KAT7_ENST00000435742.2_Missense_Mutation_p.R158C|KAT7_ENST00000510819.1_Missense_Mutation_p.R175C O95251 MYST2_HUMAN K(lysine) acetyltransferase 7 344 DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding TGCTTTTGGCCGCTATGAGCT 0.403000 19 43 0 0 1 0 0 AGO3 192669 broad.mit.edu 37 1 36397036 36397036 + Silent SNP C C T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr1:36397036C>T ENST00000373191.4 + 1 358 c.9C>T c.(7-9)atC>atT p.I3I AGO3_ENST00000246314.6_5'UTR|AGO3_ENST00000324350.5_Silent_p.I3I|AGO3_ENST00000397828.2_Silent_p.I3I NM_024852.3 NP_079128.2 argonaute RISC catalytic component 3 GAATGGAAATCGGCTCCGCAG 0.701000 4 7 0 0 1 0 0 PRELID2 153768 broad.mit.edu 37 5 145176089 145176089 + Silent SNP G G A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr5:145176089G>A ENST00000334744.4 - 6 478 c.426C>T c.(424-426)ggC>ggT p.G142G PRELID2_ENST00000505416.1_Silent_p.G130G|PRELID2_ENST00000511435.1_Silent_p.G130G|PRELID2_ENST00000510594.1_5'UTR|PRELID2_ENST00000358004.2_Silent_p.G130G|PRELID2_ENST00000394450.2_Silent_p.G101G NM_182960.2 NP_892005.1 Q8N945 PRLD2_HUMAN PRELI domain containing 2 142 PRELI/MSF1. endometrium(2)|large_intestine(1)|lung(2)|prostate(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTGAAATCCTGCCTCTTTGAA 0.393000 20 56 0 0 1 0 0 NLRP13 126204 broad.mit.edu 37 19 56407431 56407431 + Silent SNP G G C TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr19:56407431G>C ENST00000588751.1 - 11 3036 c.3012C>G c.(3010-3012)ctC>ctG p.L1004L NLRP13_ENST00000342929.3_Silent_p.L1004L Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 1004 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) TACTGCTGCTGAGAACAGAGA 0.473000 26 54 0 0 1 0 0 ABCA5 23461 broad.mit.edu 37 17 67282434 67282434 + Missense_Mutation SNP G G A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr17:67282434G>A ENST00000392676.3 - 16 2124 c.2060C>T c.(2059-2061)tCa>tTa p.S687L ABCA5_ENST00000392677.2_Missense_Mutation_p.S687L|ABCA5_ENST00000588877.1_Missense_Mutation_p.S687L Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 687 ABC transporter 1. cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) CATTCCTTGTGATATCACAGC 0.328000 6 41 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38841115 38841115 + Missense_Mutation SNP C C T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr6:38841115C>T ENST00000359357.3 + 50 7186 c.6932C>T c.(6931-6933)cCc>cTc p.P2311L DNAH8_ENST00000441566.1_Missense_Mutation_p.P2275L|DNAH8_ENST00000449981.2_Missense_Mutation_p.P2528L dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AATCTCAATCCCAAAATGCAG 0.353000 10 68 0 0 1 0 0 RDH11 51109 broad.mit.edu 37 14 68157903 68157903 + Silent SNP C C T rs17853736 TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr14:68157903C>T ENST00000381346.4 - 4 518 c.408G>A c.(406-408)tcG>tcA p.S136S RDH11_ENST00000553384.1_Silent_p.S123S|RDH11_ENST00000428130.2_Silent_p.S136S NM_001252650.1|NM_016026.3 NP_001239579.1|NP_057110.3 Q8TC12 RDH11_HUMAN retinol dehydrogenase 11 (all-trans/9-cis/11-cis) 136 retinol metabolic process|steroid metabolic process endoplasmic reticulum membrane|integral to membrane binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1) 12 all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924) Vitamin A(DB00162) CTGCTGTCTTCGAGTACGGAC 0.483000 49 104 0 0 1 0 0 MYO18A 399687 broad.mit.edu 37 17 27414050 27414050 + Silent SNP C C T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr17:27414050C>T ENST00000527372.1 - 38 5796 c.5616G>A c.(5614-5616)caG>caA p.Q1872Q MYO18A_ENST00000354329.4_Silent_p.Q1872Q|MYO18A_ENST00000529578.1_5'UTR|TIAF1_ENST00000408971.2_5'UTR|MYO18A_ENST00000533112.1_Silent_p.Q1835Q|MYO18A_ENST00000531253.1_Silent_p.Q1872Q NM_078471.3 NP_510880.2 Q92614 MY18A_HUMAN myosin XVIIIA 1872 anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) GCCGCTTGTTCTGTTCCTTCT 0.592000 10 75 0 0 1 0 0 C11orf1 64776 broad.mit.edu 37 11 111753253 111753253 + Silent SNP G G C TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr11:111753253G>C ENST00000260276.3 + 2 544 c.207G>C c.(205-207)ctG>ctC p.L69L C11orf1_ENST00000530214.1_Silent_p.L69L|C11orf1_ENST00000528125.1_Silent_p.L23L|C11orf1_ENST00000529270.1_Silent_p.L109L NM_022761.2 NP_073598.1 Q9H5F2 CK001_HUMAN chromosome 11 open reading frame 1 69 nucleus kidney(2)|lung(3) 5 all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281) all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06) ACCGTACCCTGATGGGCAACT 0.438000 12 21 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22154862 22154862 + Missense_Mutation SNP T T C TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr19:22154862T>C ENST00000397126.4 - 4 3122 c.2974A>G c.(2974-2976)Aag>Gag p.K992E ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TGAATTACCTTATGTTTAGTA 0.343000 3 71 0 0 1 0 0 FAM111A 63901 broad.mit.edu 37 11 58920671 58920671 + Silent SNP G G A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr11:58920671G>A ENST00000528737.1 + 5 4348 c.1530G>A c.(1528-1530)gaG>gaA p.E510E FAM111A_ENST00000531147.1_Silent_p.E510E|FAM111A_ENST00000361723.3_Silent_p.E510E|FAM111A_ENST00000420244.1_Silent_p.E510E|FAM111A_ENST00000533703.1_Silent_p.E510E Q96PZ2 F111A_HUMAN family with sequence similarity 111, member A 510 proteolysis serine-type endopeptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_epithelial(135;0.139) AAAGTCCAGAGTATGTCCATA 0.423000 23 75 0 0 1 0 0 NARG2 79664 broad.mit.edu 37 15 60741617 60741617 + Missense_Mutation SNP C C G TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr15:60741617C>G ENST00000261520.4 - 10 1783 c.1549G>C c.(1549-1551)Gaa>Caa p.E517Q NARG2_ENST00000439632.1_Missense_Mutation_p.E380Q NM_024611.4 NP_078887.2 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 517 nucleus breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 TGAGAATTTTCTAACTGTAAG 0.313000 24 66 0 0 1 0 0 MED14 9282 broad.mit.edu 37 X 40534580 40534580 + Missense_Mutation SNP C C T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chrX:40534580C>T ENST00000324817.1 - 22 3032 c.2914G>A c.(2914-2916)Gat>Aat p.D972N MED14_ENST00000496531.2_5'UTR NM_004229.3 NP_004220.2 O60244 MED14_HUMAN mediator complex subunit 14 972 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding p.D972N(1) NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CTTCGAGCATCCTGATTGCTG 0.363000 9 34 0 0 1 0 0 CEACAM8 1088 broad.mit.edu 37 19 43087450 43087450 + Missense_Mutation SNP C C G TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr19:43087450C>G ENST00000244336.5 - 5 1099 c.998G>C c.(997-999)aGa>aCa p.R333T LIPE-AS1_ENST00000594624.2_RNA|CEACAM8_ENST00000599005.1_Missense_Mutation_p.R35T|LIPE-AS1_ENST00000594688.1_RNA NM_001816.3 NP_001807.2 P31997 CEAM8_HUMAN carcinoembryonic antigen-related cell adhesion molecule 8 333 immune response anchored to membrane|extracellular space|integral to plasma membrane endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 16 Prostate(69;0.00899) GACAGTGGCTCTAGCTGAGAG 0.463000 13 43 0 0 1 0 0 ATP12A 479 broad.mit.edu 37 13 25274889 25274889 + Silent SNP C C T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr13:25274889C>T ENST00000218548.6 + 13 2061 c.1728C>T c.(1726-1728)ttC>ttT p.F576F ATP12A_ENST00000381946.3_Silent_p.F570F NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 570 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) TTACAGGTTTCTGTCATCTCT 0.423000 18 28 0 0 1 0 0 LOXL2 4017 broad.mit.edu 37 8 23160801 23160801 + Missense_Mutation SNP C C G TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr8:23160801C>G ENST00000389131.3 - 11 2359 c.1990G>C c.(1990-1992)Gaa>Caa p.E664Q NM_002318.2 NP_002309.1 Q9Y4K0 LOXL2_HUMAN lysyl oxidase-like 2 664 Lysyl-oxidase like. aging|cell adhesion|protein modification process extracellular space|membrane copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(55;0.0453)|Breast(100;0.143) Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096) ATACCTCCTTCACATTCTGTG 0.602000 16 28 0 0 1 0 0 IFT88 8100 broad.mit.edu 37 13 21265282 21265282 + Nonsense_Mutation SNP G G T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr13:21265282G>T ENST00000319980.6 + 28 2797 c.2470G>T c.(2470-2472)Gaa>Taa p.E824* IFT88_ENST00000351808.5_Nonsense_Mutation_p.E815*|IFT88_ENST00000537103.1_Nonsense_Mutation_p.E796*|IFT88_ENST00000382778.4_3'UTR NM_175605.3 NP_783195.2 Q13099 IFT88_HUMAN intraflagellar transport 88 homolog (Chlamydomonas) 824 cilium morphogenesis centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum protein binding p.E824*(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 27 all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244) all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528) TTTTGCTGATGAAGAATTAGG 0.378000 18 46 3.32936e-07 3.47322e-07 1 1 0 HEATR6 63897 broad.mit.edu 37 17 58134520 58134520 + Silent SNP G G T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr17:58134520G>T ENST00000184956.6 - 12 1984 c.1968C>A c.(1966-1968)ctC>ctA p.L656L HEATR6_ENST00000585976.1_Silent_p.L656L NM_022070.4 NP_071353.4 Q6AI08 HEAT6_HUMAN HEAT repeat containing 6 656 binding NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) TGGAAATGCAGAGTCGAATGA 0.557000 33 64 1.04352e-10 1.10915e-10 1 1 0 AHNAK2 113146 broad.mit.edu 37 14 105413205 105413205 + Silent SNP G G A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr14:105413205G>A ENST00000333244.5 - 7 8702 c.8583C>T c.(8581-8583)atC>atT p.I2861I AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2861 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GCTGAATGCGGATGTCAGTGG 0.632000 8 150 0 0 1 0 0 OR52J3 119679 broad.mit.edu 37 11 5067999 5067999 + Missense_Mutation SNP C C T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr11:5067999C>T ENST00000380370.1 + 1 244 c.244C>T c.(244-246)Cgc>Tgc p.R82C NM_001001916.2 NP_001001916.2 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, member 3 82 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R82C(1) NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2) 36 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) CTCTGTGCCTCGCATGCTGGG 0.498000 16 57 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46298733 46298733 + Nonsense_Mutation SNP G G T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr12:46298733G>T ENST00000334344.6 + 21 5552 c.5380G>T c.(5380-5382)Gaa>Taa p.E1794* ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_3'UTR|ARID2_ENST00000444670.1_Nonsense_Mutation_p.E1404* NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1794 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) AAAGAGACATGAAAATAACTT 0.348000 """N, S, F""" hepatocellular carcinoma 6 25 0.248553 0.248553 1 1 0 SLAIN1 122060 broad.mit.edu 37 13 78335205 78335205 + Missense_Mutation SNP A A G TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr13:78335205A>G ENST00000466548.1 + 7 1617 c.1591A>G c.(1591-1593)Agt>Ggt p.S531G SLAIN1_ENST00000418532.1_Missense_Mutation_p.S312G|SLAIN1_ENST00000351546.3_Missense_Mutation_p.S268G|SLAIN1_ENST00000488699.1_Missense_Mutation_p.S389G|SLAIN1_ENST00000314070.5_Missense_Mutation_p.S154G|SLAIN1_ENST00000267219.8_Missense_Mutation_p.S312G|SLAIN1_ENST00000358679.3_Missense_Mutation_p.S268G NM_001242868.1 NP_001229797.1 Q8ND83 SLAI1_HUMAN SLAIN motif family, member 1 531 breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0853) AATAAATGGGAGTAACCTGCC 0.463000 19 30 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24820855 24820855 + Missense_Mutation SNP C C T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr10:24820855C>T ENST00000376451.2 + 10 2488 c.2228C>T c.(2227-2229)tCg>tTg p.S743L KIAA1217_ENST00000376452.3_Missense_Mutation_p.S1024L|KIAA1217_ENST00000458595.1_Missense_Mutation_p.S1025L|KIAA1217_ENST00000376454.3_Missense_Mutation_p.S1060L|KIAA1217_ENST00000396446.1_Missense_Mutation_p.S743L|KIAA1217_ENST00000376462.1_Missense_Mutation_p.S980L|KIAA1217_ENST00000307544.6_Missense_Mutation_p.S743L|KIAA1217_ENST00000396445.1_Missense_Mutation_p.S743L Q5T5P2 SKT_HUMAN KIAA1217 1060 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 CTGCCAGGATCGGGACTCACC 0.577000 3 21 0 0 1 0 0 DIAPH2 1730 broad.mit.edu 37 X 96684678 96684678 + Missense_Mutation SNP C C T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chrX:96684678C>T ENST00000324765.8 + 26 3522 c.3175C>T c.(3175-3177)Ctt>Ttt p.L1059F DIAPH2_ENST00000373061.3_Missense_Mutation_p.L1059F|DIAPH2_ENST00000373054.4_Missense_Mutation_p.L1055F|DIAPH2_ENST00000355827.4_Missense_Mutation_p.L1059F|DIAPH2_ENST00000373049.4_Missense_Mutation_p.L1059F O60879 DIAP2_HUMAN diaphanous-related formin 2 1059 DAD. cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 GATGGATAATCTTCTAGAAGC 0.403000 7 27 0 0 1 0 0 NCOR2 9612 broad.mit.edu 37 12 124821405 124821405 + Silent SNP G G A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr12:124821405G>A ENST00000356219.3 - 39 6185 c.6030C>T c.(6028-6030)caC>caT p.H2010H NCOR2_ENST00000404621.1_Silent_p.H1993H|NCOR2_ENST00000397355.1_Silent_p.H1994H|NCOR2_ENST00000405201.1_Silent_p.H2003H|NCOR2_ENST00000429285.2_Silent_p.H1993H|NCOR2_ENST00000404121.2_Silent_p.H1564H NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 2014 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) CCGGGCTGGCGTGGTGAGGTG 0.677000 3 27 0 0 1 0 0 TRAV17 28666 broad.mit.edu 37 14 22465850 22465850 + RNA SNP A A G TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr14:22465850A>G ENST00000390445.2 + 0 73 GGATTCACCCAGTAAAGAGAG 0.468000 3 7 0 0 1 0 0 NUBP1 4682 broad.mit.edu 37 16 10837823 10837823 + Missense_Mutation SNP C C T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr16:10837823C>T ENST00000283027.5 + 2 44 c.25C>T c.(25-27)Cca>Tca p.P9S NUBP1_ENST00000433392.2_Missense_Mutation_p.P9S|NUBP1_ENST00000571790.1_3'UTR NM_002484.2 NP_002475.2 P53384 NUBP1_HUMAN nucleotide binding protein 1 9 cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly cytosol 4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding large_intestine(2)|lung(3)|ovary(1)|skin(4) 10 CGCAGACTGTCCAGGGGCCGA 0.692000 3 5 0 0 1 0 0 DNAJC2 27000 broad.mit.edu 37 7 102960101 102960101 + Silent SNP G G A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr7:102960101G>A ENST00000379263.3 - 12 1447 c.1197C>T c.(1195-1197)ctC>ctT p.L399L DNAJC2_ENST00000249270.7_Intron|PMPCB_ENST00000420236.2_Intron NM_014377.1 NP_055192.1 Q99543 DNJC2_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 2 399 '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 TGCATGATGTGAGTGTTTCAT 0.353000 9 30 0 0 1 0 0 H1FNT 341567 broad.mit.edu 37 12 48723425 48723425 + Silent SNP C C T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr12:48723425C>T ENST00000335017.1 + 1 663 c.351C>T c.(349-351)gcC>gcT p.A117A NM_181788.1 NP_861453.1 Q75WM6 H1FNT_HUMAN H1 histone family, member N, testis-specific 117 chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation nuclear chromatin ATP binding|DNA binding endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 13 GCGACGCCGCCGGCTACTTCA 0.721000 4 13 0 0 1 0 0 CENPF 1063 broad.mit.edu 37 1 214826219 214826219 + Missense_Mutation SNP G G C TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr1:214826219G>C ENST00000366955.3 + 16 8377 c.8209G>C c.(8209-8211)Gaa>Caa p.E2737Q CENPF_ENST00000467765.1_3'UTR NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 2833 Sufficient for centromere localization.|Sufficient for self-association. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) TTCTAAAGAAGAATGTCTCAG 0.348000 17 51 0 0 1 0 0 NARG2 79664 broad.mit.edu 37 15 60741060 60741060 + Missense_Mutation SNP C C G TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr15:60741060C>G ENST00000261520.4 - 10 2340 c.2106G>C c.(2104-2106)caG>caC p.Q702H NARG2_ENST00000439632.1_Missense_Mutation_p.Q565H NM_024611.4 NP_078887.2 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 702 nucleus breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 CTTTTGGCTTCTGAAATGCAG 0.378000 4 30 0 0 1 0 0 LOC441666 441666 broad.mit.edu 37 10 42832122 42832122 + RNA SNP C C T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr10:42832122C>T ENST00000609841.1 - 0 1781 NR_024380.1 CAGTAAAAGGCTTTGCCACAT 0.348000 3 12 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16914285 16914285 + Silent SNP G G A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr1:16914285G>A ENST00000430580.2 - 10 1388 c.501C>T c.(499-501)gaC>gaT p.D167D NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 167 NBPF 1. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) CCTCATCTTCGTCATTTTCTG 0.433000 22 433 0 0 1 0 0 SLC30A4 7782 broad.mit.edu 37 15 45814199 45814199 + Silent SNP G G C TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr15:45814199G>C ENST00000261867.4 - 2 668 c.354C>G c.(352-354)gcC>gcG p.A118A SLC30A4_ENST00000559667.1_5'UTR|HMGN2P46_ENST00000409454.1_RNA NM_013309.4 NP_037441.2 O14863 ZNT4_HUMAN solute carrier family 30 (zinc transporter), member 4 118 regulation of sequestering of zinc ion|response to toxin endosome membrane|integral to membrane|late endosome zinc ion transmembrane transporter activity endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1) 15 Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06) AGTACAGAACGGCAGCAATGG 0.463000 20 36 0 0 1 0 0 PAGE5 90737 broad.mit.edu 37 X 55247847 55247847 + Nonsense_Mutation SNP C C G TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chrX:55247847C>G ENST00000289619.5 + 2 337 c.92C>G c.(91-93)tCa>tGa p.S31* PAGE5_ENST00000374952.1_Nonsense_Mutation_p.S11*|PAGE5_ENST00000374955.3_Nonsense_Mutation_p.S11* NM_130467.3 NP_569734.2 Q96GU1 GGEE1_HUMAN P antigen family, member 5 (prostate associated) 31 breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 8 TCCCAATCCTCAGAAAGAGGA 0.333000 10 57 0 0 1 0 0 COL15A1 1306 broad.mit.edu 37 9 101748257 101748257 + Missense_Mutation SNP G G A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr9:101748257G>A ENST00000375001.3 + 3 934 c.511G>A c.(511-513)Gag>Aag p.E171K NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 171 TSP N-terminal. angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) TGTCCAGGGTGAGGAAGTGAC 0.597000 20 73 0 0 1 0 0 FAM76B 143684 broad.mit.edu 37 11 95504794 95504794 + Silent SNP G G C TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr11:95504794G>C ENST00000358780.5 - 10 1263 c.951C>G c.(949-951)ctC>ctG p.L317L FAM76B_ENST00000536839.1_Silent_p.L316L NM_144664.4 NP_653265.3 Q5HYJ3 FA76B_HUMAN family with sequence similarity 76, member B 317 breast(1)|kidney(1)|lung(1) 3 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CGACCTGTTTGAGTAGTTCTC 0.313000 20 46 0 0 1 0 0 NARG2 79664 broad.mit.edu 37 15 60741548 60741548 + Missense_Mutation SNP C C T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr15:60741548C>T ENST00000261520.4 - 10 1852 c.1618G>A c.(1618-1620)Gaa>Aaa p.E540K NARG2_ENST00000439632.1_Missense_Mutation_p.E403K NM_024611.4 NP_078887.2 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 540 nucleus breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 TTAGGTCTTTCACCATCAGCA 0.343000 16 51 0 0 1 0 0 NFATC1 4772 broad.mit.edu 37 18 77246360 77246360 + Silent SNP G G A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr18:77246360G>A ENST00000253506.5 + 9 2574 c.2205G>A c.(2203-2205)gcG>gcA p.A735A NFATC1_ENST00000397790.2_Silent_p.A263A|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000318065.5_Silent_p.A722A|NFATC1_ENST00000329101.4_Silent_p.A722A|NFATC1_ENST00000545796.1_Silent_p.A263A|NFATC1_ENST00000427363.2_Silent_p.A735A|NFATC1_ENST00000586434.1_Intron NM_006162.3 NP_006153.2 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 0 Trans-activation domain B (TAD-B). intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) AGCAGCTCGCGATGCCACCCG 0.637000 55 127 0 0 1 0 0 KCTD19 146212 broad.mit.edu 37 16 67327997 67327997 + Silent SNP G G C TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr16:67327997G>C ENST00000304372.5 - 12 1723 c.1668C>G c.(1666-1668)gtC>gtG p.V556V NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 556 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) GGTTGGACCTGACCAGGTTTC 0.562000 54 131 0 0 1 0 0 HS3ST3B1 9953 broad.mit.edu 37 17 14205045 14205045 + Silent SNP C C T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr17:14205045C>T ENST00000360954.2 + 1 646 c.210C>T c.(208-210)gcC>gcT p.A70A NM_006041.1 NP_006032.1 Q9Y662 HS3SB_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1 70 heparan sulfate proteoglycan biosynthetic process, enzymatic modification Golgi membrane|integral to plasma membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity large_intestine(3)|lung(3)|skin(1) 7 UCEC - Uterine corpus endometrioid carcinoma (92;0.0887) GGTCCCGCGCCGCACACGACC 0.731000 6 6 0 0 1 0 0 ZNF830 91603 broad.mit.edu 37 17 33288602 33288602 + Missense_Mutation SNP C C T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr17:33288602C>T ENST00000361952.3 + 1 54 c.17C>T c.(16-18)tCc>tTc p.S6F NM_052857.3 NP_443089.3 Q96NB3 ZN830_HUMAN zinc finger protein 830 6 cell division|mitosis cytoplasm|nucleus metal ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Ovarian(249;0.17) TCCTCCGCCTCCGCCCGGACT 0.567000 24 77 0 0 1 0 0 GDAP2 54834 broad.mit.edu 37 1 118455250 118455250 + Silent SNP G G A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr1:118455250G>A ENST00000369443.5 - 4 621 c.372C>T c.(370-372)ttC>ttT p.F124F GDAP2_ENST00000369442.3_Silent_p.F124F NM_017686.3 NP_060156.1 Q9NXN4 GDAP2_HUMAN ganglioside induced differentiation associated protein 2 Macro. kidney(2)|large_intestine(3)|lung(9)|ovary(2) 16 all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295) Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194) TGTGAATGATGAACCGGGCAG 0.423000 32 92 0 0 1 0 0 TRIP4 9325 broad.mit.edu 37 15 64706352 64706352 + Missense_Mutation SNP C C A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr15:64706352C>A ENST00000261884.3 + 8 1172 c.1112C>A c.(1111-1113)tCt>tAt p.S371Y NM_016213.4 NP_057297.2 Q15650 TRIP4_HUMAN thyroid hormone receptor interactor 4 371 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 TTGGATAGATCTTCTGAAGAG 0.438000 10 56 0.000673444 0.000693976 1 1 0 FAM172A 83989 broad.mit.edu 37 5 93294586 93294586 + Missense_Mutation SNP G G A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr5:93294586G>A ENST00000395965.3 - 6 605 c.463C>T c.(463-465)Cat>Tat p.H155Y FAM172A_ENST00000504768.2_5'UTR|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509163.1_Missense_Mutation_p.H109Y|FAM172A_ENST00000509739.1_Intron NM_032042.5 NP_114431.2 Q8WUF8 F172A_HUMAN family with sequence similarity 172, member A 155 endoplasmic reticulum|extracellular region endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 9 CCACTACCATGAATTAAAACC 0.393000 34 63 0 0 1 0 0 NPAS3 64067 broad.mit.edu 37 14 34268993 34268993 + Missense_Mutation SNP G G A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr14:34268993G>A ENST00000346562.2 + 11 1458 c.1384G>A c.(1384-1386)Gaa>Aaa p.E462K NPAS3_ENST00000357798.5_Missense_Mutation_p.E481K|NPAS3_ENST00000551492.1_Missense_Mutation_p.E499K|NPAS3_ENST00000356141.4_Missense_Mutation_p.E494K|NPAS3_ENST00000548645.1_Missense_Mutation_p.E464K NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2 NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 494 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) CGAGAACAGCGAAGACCCGGA 0.652000 3 7 0 0 1 0 0 F12 2161 broad.mit.edu 37 5 176829575 176829575 + Silent SNP G G A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr5:176829575G>A ENST00000253496.3 - 13 1704 c.1656C>T c.(1654-1656)ctC>ctT p.L552L NM_000505.3 NP_000496.2 P00748 FA12_HUMAN coagulation factor XII (Hageman factor) 552 Peptidase S1. Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation extracellular space|plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 12 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGCCGCCCTCGAGGAACCCTG 0.682000 Hereditary Angioedema 4 13 0 0 1 0 0 COX17 10063 broad.mit.edu 37 3 119396058 119396058 + Missense_Mutation SNP C C T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr3:119396058C>T ENST00000261070.2 - 1 192 c.100G>A c.(100-102)Gat>Aat p.D34N COX17_ENST00000497116.1_Missense_Mutation_p.D34N|COX17_ENST00000484810.1_Missense_Mutation_p.D34N NM_005694.1 NP_005685.1 Q14061 COX17_HUMAN COX17 cytochrome c oxidase copper chaperone 34 copper ion transport|generation of precursor metabolites and energy mitochondrial intermembrane space copper chaperone activity central_nervous_system(1)|kidney(1)|large_intestine(1) 3 GBM - Glioblastoma multiforme(114;0.227) GACCACGCATCGCGCGCCTTC 0.706000 6 11 0 0 1 0 0 MED20 9477 broad.mit.edu 37 6 41874896 41874896 + Missense_Mutation SNP C C T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr6:41874896C>T ENST00000265350.4 - 4 633 c.553G>A c.(553-555)Ggc>Agc p.G185S MED20_ENST00000409312.1_3'UTR|MED20_ENST00000467535.1_5'UTR NM_004275.3 NP_004266.2 Q9H944 MED20_HUMAN mediator complex subunit 20 185 regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter mediator complex DNA-directed RNA polymerase activity|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)|pancreas(1) 5 Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TCTGCTGGGCCGTAGACCGCA 0.562000 8 37 0 0 1 0 0 TRPM7 54822 broad.mit.edu 37 15 50902041 50902041 + Missense_Mutation SNP C C T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr15:50902041C>T ENST00000313478.7 - 18 2679 c.2398G>A c.(2398-2400)Gaa>Aaa p.E800K TRPM7_ENST00000560955.1_Missense_Mutation_p.E800K NM_017672.4 NP_060142.3 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, subfamily M, member 7 800 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) AAGTTGTTTTCGCTGTCATCC 0.353000 17 55 0 0 1 0 0 KANK1 23189 broad.mit.edu 37 9 711641 711641 + Missense_Mutation SNP C C G TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr9:711641C>G ENST00000382303.1 + 7 1527 c.875C>G c.(874-876)tCt>tGt p.S292C KANK1_ENST00000382293.3_Missense_Mutation_p.S134C|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Missense_Mutation_p.S292C NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 292 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) GTAAAGATCTCTGTCTTGCAA 0.532000 20 41 0 0 1 0 0 SGOL2 151246 broad.mit.edu 37 2 201435997 201435997 + Missense_Mutation SNP G G C TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr2:201435997G>C ENST00000357799.4 + 7 1026 c.928G>C c.(928-930)Gag>Cag p.E310Q NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 310 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 TTGCAATAATGAGATAAATGG 0.358000 14 29 0 0 1 0 0 UXS1 80146 broad.mit.edu 37 2 106713228 106713228 + Missense_Mutation SNP C C A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr2:106713228C>A ENST00000283148.7 - 14 1189 c.1092G>T c.(1090-1092)caG>caT p.Q364H UXS1_ENST00000540130.1_Missense_Mutation_p.Q302H|UXS1_ENST00000409032.1_Missense_Mutation_p.Q191H|UXS1_ENST00000409501.3_Missense_Mutation_p.Q359H NM_001253875.1|NM_025076.4 NP_001240804.1|NP_079352.2 Q8NBZ7 UXS1_HUMAN UDP-glucuronate decarboxylase 1 359 cellular metabolic process Golgi cisterna membrane|integral to membrane coenzyme binding|UDP-glucuronate decarboxylase activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2) 17 GTTTTCTTTTCTGTGGGTCAT 0.488000 3 7 0.00909568 0.00931618 1 1 0 PBDC1 51260 broad.mit.edu 37 X 75393483 75393483 + Missense_Mutation SNP G G A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chrX:75393483G>A ENST00000373358.3 + 2 297 c.94G>A c.(94-96)Gat>Aat p.D32N PBDC1_ENST00000373357.3_Missense_Mutation_p.D32N NM_016500.3 NP_057584.2 polysaccharide biosynthesis domain containing 1 GTATGGCAACGATGTGAGTAT 0.532000 34 56 0 0 1 0 0 DUOX1 53905 broad.mit.edu 37 15 45442897 45442897 + Missense_Mutation SNP C C G TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr15:45442897C>G ENST00000321429.4 + 23 3293 c.2886C>G c.(2884-2886)atC>atG p.I962M DUOX1_ENST00000561166.1_Missense_Mutation_p.I608M|DUOX1_ENST00000389037.3_Missense_Mutation_p.I962M NM_017434.3 NP_059130.2 Q9NRD9 DUOX1_HUMAN dual oxidase 1 962 Interaction with TXNDC11 (By similarity). I -> T (in dbSNP:rs16939743). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity p.I962I(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1) 57 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) AGGATATGATCTGGTGAGCAC 0.607000 8 13 0 0 1 0 0 GRHL2 79977 broad.mit.edu 37 8 102589737 102589737 + Silent SNP C C G TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr8:102589737C>G ENST00000251808.3 + 7 1331 c.993C>G c.(991-993)gtC>gtG p.V331V GRHL2_ENST00000395927.1_Silent_p.V315V NM_024915.3 NP_079191.2 Q6ISB3 GRHL2_HUMAN grainyhead-like 2 (Drosophila) 331 cytoplasm|nucleus DNA binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) AGCAGAGGGTCCTTGACATTG 0.483000 8 83 0 0 1 0 0 PIGR 5284 broad.mit.edu 37 1 207104857 207104857 + Silent SNP G G C TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr1:207104857G>C ENST00000356495.4 - 10 2367 c.2184C>G c.(2182-2184)ccC>ccG p.P728P PIGR_ENST00000487208.1_5'UTR NM_002644.3 NP_002635.2 P01833 PIGR_HUMAN polymeric immunoglobulin receptor 728 extracellular region|integral to plasma membrane protein binding p.P728P(1) central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 TTGCCTTCTTGGGTTCTTTGG 0.483000 22 33 0 0 1 0 0 ANO2 57101 broad.mit.edu 37 12 6030527 6030527 + Missense_Mutation SNP G G C TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr12:6030527G>C ENST00000356134.5 - 3 272 c.201C>G c.(199-201)atC>atG p.I67M ANO2_ENST00000327087.8_Missense_Mutation_p.I67M|ANO2_ENST00000546188.1_Missense_Mutation_p.I67M NM_001278596.1 NP_001265525.1 Q9NQ90 ANO2_HUMAN anoctamin 2 71 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 GATAGTTGTTGATGACCTGGC 0.547000 13 19 0 0 1 0 0 HDAC5 10014 broad.mit.edu 37 17 42168789 42168789 + Silent SNP C C T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr17:42168789C>T ENST00000225983.6 - 11 1562 c.1239G>A c.(1237-1239)acG>acA p.T413T HDAC5_ENST00000586802.1_Silent_p.T412T|HDAC5_ENST00000336057.5_Silent_p.T412T|HDAC5_ENST00000393622.2_Silent_p.T412T Q9UQL6 HDAC5_HUMAN histone deacetylase 5 412 B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent cytoplasm|histone deacetylase complex histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 21 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.118) TGCCGGTCAGCGTGCCACCCT 0.682000 3 28 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228462037 228462037 + Missense_Mutation SNP G G A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr1:228462037G>A ENST00000570156.2 + 23 6774 c.6700G>A c.(6700-6702)Gag>Aag p.E2234K RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.E706K|OBSCN_ENST00000422127.1_Missense_Mutation_p.E1859K|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.E1859K NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1217 Ig-like 22. 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) GATGGTGGCCGAGGGGCCCGT 0.667000 27 47 0 0 1 0 0 CYP3A5 1577 broad.mit.edu 37 7 99247777 99247777 + Missense_Mutation SNP C C T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr7:99247777C>T ENST00000343703.5 - 13 1688 c.1302G>A c.(1300-1302)atG>atA p.M434I CYP3A5_ENST00000222982.4_Missense_Mutation_p.M444I|CYP3A5_ENST00000339843.2_3'UTR cytochrome P450, family 3, subfamily A, polypeptide 5 NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166) GAGCAAACCTCATGCCAATGC 0.403000 42 110 0 0 1 0 0 MYL9 10398 broad.mit.edu 37 20 35176535 35176535 + Silent SNP C C T rs149515934 TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr20:35176535C>T ENST00000279022.2 + 3 389 c.285C>T c.(283-285)aaC>aaT p.N95N MYL9_ENST00000346786.2_Intron|RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA NM_006097.4 NP_006088.2 P24844 MYL9_HUMAN myosin, light chain 9, regulatory 95 axon guidance|muscle contraction|regulation of muscle contraction cytosol|muscle myosin complex calcium ion binding|structural constituent of muscle endometrium(2)|kidney(1)|large_intestine(3)|lung(2) 8 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) AGAAGCTGAACGGCACGGACC 0.607000 3 37 0 0 1 0 0 TP73 7161 broad.mit.edu 37 1 3624130 3624130 + Silent SNP G G A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr1:3624130G>A ENST00000378295.4 + 4 359 c.204G>A c.(202-204)ctG>ctA p.L68L TP73_ENST00000346387.4_Silent_p.L68L|TP73_ENST00000604479.1_Silent_p.L68L|TP73_ENST00000378290.4_5'UTR|TP73_ENST00000357733.3_Silent_p.L68L|TP73_ENST00000378285.1_Silent_p.L19L|TP73_ENST00000378288.4_Silent_p.L19L|TP73_ENST00000354437.4_Silent_p.L68L|TP73_ENST00000603362.1_Silent_p.L68L|TP73_ENST00000378280.1_Silent_p.L19L|TP73_ENST00000604074.1_Silent_p.L68L NM_001204185.1|NM_005427.3 NP_001191114.1|NP_005418.1 O15350 P73_HUMAN tumor protein p73 68 cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray chromatin|cytosol|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1) 20 all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198) all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127) Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226) TCAATCTGCTGAGCAGCACCA 0.657000 27 94 0 0 1 0 0 ZNF429 353088 broad.mit.edu 37 19 21720515 21720515 + Nonsense_Mutation SNP C C T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr19:21720515C>T ENST00000358491.4 + 4 1868 c.1660C>T c.(1660-1662)Caa>Taa p.Q554* ZNF429_ENST00000597078.1_Intron NM_001001415.2 NP_001001415.2 Q86V71 ZN429_HUMAN zinc finger protein 429 554 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 34 AAGACTTACTCAACATAAGAA 0.358000 14 64 0 0 1 0 0 DLEC1 9940 broad.mit.edu 37 3 38136501 38136501 + Missense_Mutation SNP G G A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr3:38136501G>A ENST00000308059.6 + 13 2072 c.2051G>A c.(2050-2052)aGa>aAa p.R684K DLEC1_ENST00000346219.3_Missense_Mutation_p.R684K|DLEC1_ENST00000452631.2_Missense_Mutation_p.R684K Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 684 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) ATCATGCCCAGAAAGGGGGTT 0.537000 24 49 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7579415 7579415 + Nonsense_Mutation SNP C C T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr17:7579415C>T ENST00000420246.2 - 4 404 c.272G>A c.(271-273)tGg>tAg p.W91* TP53_ENST00000455263.2_Nonsense_Mutation_p.W91*|TP53_ENST00000269305.4_Nonsense_Mutation_p.W91*|TP53_ENST00000445888.2_Nonsense_Mutation_p.W91*|TP53_ENST00000359597.4_Nonsense_Mutation_p.W91*|TP53_ENST00000413465.2_Nonsense_Mutation_p.W91* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 91 Interaction with WWOX. W -> C (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.W91*(7)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.A88fs*52(1)|p.W91fs*13(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TGACAGGGGCCAGGAGGGGGC 0.632000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 26 35 0 0 1 0 0 NPAS1 4861 broad.mit.edu 37 19 47548576 47548576 + Silent SNP C C T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr19:47548576C>T ENST00000602212.1 + 12 1660 c.1440C>T c.(1438-1440)gaC>gaT p.D480D NPAS1_ENST00000602189.1_Silent_p.D305D|NPAS1_ENST00000439365.2_3'UTR|NPAS1_ENST00000449844.2_Silent_p.D480D Q99742 NPAS1_HUMAN neuronal PAS domain protein 1 480 central nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity endometrium(2)|kidney(1)|large_intestine(2)|lung(1) 6 all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102) all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252) ACAGTGGCGACGAGGATCCCT 0.687000 5 23 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr16:90161926T>C ENST00000567960.1 + 0 662 TUBB8P7_ENST00000564451.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 3 26 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46230579 46230579 + Silent SNP G G A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr12:46230579G>A ENST00000334344.6 + 8 1000 c.828G>A c.(826-828)ctG>ctA p.L276L ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Silent_p.L127L NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 276 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) CTCGAAAGCTGGGCATTAACG 0.368000 """N, S, F""" hepatocellular carcinoma 23 54 0 0 1 0 0 PARP1 142 broad.mit.edu 37 1 226570804 226570804 + Silent SNP G G A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr1:226570804G>A ENST00000366794.5 - 8 1235 c.1092C>T c.(1090-1092)tcC>tcT p.S364S NM_001618.3 NP_001609.2 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase 1 364 cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 44 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) TGGCCGCCACGGAGGCGCTGG 0.512000 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 36 172 0 0 1 0 0 WDR72 256764 broad.mit.edu 37 15 53908364 53908364 + Missense_Mutation SNP T T A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr15:53908364T>A ENST00000396328.1 - 15 2278 c.2039A>T c.(2038-2040)cAt>cTt p.H680L WDR72_ENST00000559418.1_Missense_Mutation_p.H690L|WDR72_ENST00000360509.5_Missense_Mutation_p.H680L|WDR72_ENST00000557913.1_Missense_Mutation_p.H677L NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 680 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) TAGAAGAATATGAAAGCCAAC 0.393000 14 53 0 0 1 0 0 KCTD19 146212 broad.mit.edu 37 16 67327899 67327899 + Missense_Mutation SNP G G A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr16:67327899G>A ENST00000304372.5 - 12 1821 c.1766C>T c.(1765-1767)tCa>tTa p.S589L NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 589 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) ACGGCAGTGTGAGTATGTGCT 0.557000 30 85 0 0 1 0 0 SALL2 6297 broad.mit.edu 37 14 21991188 21991188 + Missense_Mutation SNP C C G TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr14:21991188C>G ENST00000327430.3 - 2 2968 c.2674G>C c.(2674-2676)Gag>Cag p.E892Q SALL2_ENST00000450879.2_Missense_Mutation_p.E755Q|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron NM_005407.1 NP_005398.1 Q9Y467 SALL2_HUMAN spalt-like transcription factor 2 892 DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2) 43 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) CTCAGCTCCTCTACCAAGGTC 0.602000 3 32 0 0 1 0 0 ZNF385C 201181 broad.mit.edu 37 17 40179718 40179718 + Missense_Mutation SNP C C T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr17:40179718C>T ENST00000436535.3 - 7 1196 c.1196G>A c.(1195-1197)cGc>cAc p.R399H ZNF385C_ENST00000461831.1_5'UTR zinc finger protein 385C lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 3 all_cancers(22;0.00127)|Breast(137;0.00104)|all_epithelial(22;0.0126) CCCGGCCAGGCGGTCTTTGTG 0.577000 15 60 0 0 1 0 0 SGOL2 151246 broad.mit.edu 37 2 201436313 201436313 + Missense_Mutation SNP G G T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr2:201436313G>T ENST00000357799.4 + 7 1342 c.1244G>T c.(1243-1245)aGa>aTa p.R415I NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 415 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 AGATCAAAGAGACAGTTTAAA 0.338000 22 35 1.96292e-10 2.07334e-10 1 1 0 UBAP1 51271 broad.mit.edu 37 9 34241318 34241318 + Missense_Mutation SNP G G A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr9:34241318G>A ENST00000536252.1 + 5 693 c.295G>A c.(295-297)Gat>Aat p.D99N UBAP1_ENST00000297661.4_Missense_Mutation_p.D99N|UBAP1_ENST00000359544.2_Missense_Mutation_p.D99N|UBAP1_ENST00000543944.1_Missense_Mutation_p.D135N|UBAP1_ENST00000540348.1_Missense_Mutation_p.D99N|UBAP1_ENST00000545103.1_Missense_Mutation_p.D163N|UBAP1_ENST00000379186.4_Missense_Mutation_p.D99N NM_001171203.2 NP_001164674.1 Q9NZ09 UBAP1_HUMAN ubiquitin associated protein 1 99 cytoplasm endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1) 13 LUSC - Lung squamous cell carcinoma(29;0.00272) CCCAGAGGGCGATAGCAAAAT 0.502000 14 34 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385762 58385762 + Silent SNP C C G TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr19:58385762C>G ENST00000435989.2 - 3 1230 c.996G>C c.(994-996)tcG>tcC p.S332S ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 332 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.S332S(2) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 ATTTGCTAAACGATTTCCCAC 0.358000 2 1 0 0 1 0 0 TECPR2 9895 broad.mit.edu 37 14 102931587 102931587 + Silent SNP C C T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr14:102931587C>T ENST00000359520.7 + 17 3976 c.3750C>T c.(3748-3750)ctC>ctT p.L1250L TECPR2_ENST00000558678.1_Silent_p.L1250L NM_014844.3 NP_055659.2 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 1250 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 ATCCCAGTCTCATGCTTCCAG 0.498000 11 36 0 0 1 0 0 MYRF 745 broad.mit.edu 37 11 61539178 61539178 + Missense_Mutation SNP G G A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr11:61539178G>A ENST00000278836.5 + 6 1043 c.947G>A c.(946-948)cGt>cAt p.R316H TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.R307H NM_001127392.1 NP_001120864.1 myelin regulatory factor AGCATTGCCCGTGTCCAGACA 0.692000 10 92 0 0 1 0 0 RIOK2 55781 broad.mit.edu 37 5 96504509 96504509 + Missense_Mutation SNP C C T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr5:96504509C>T ENST00000283109.3 - 7 895 c.827G>A c.(826-828)cGt>cAt p.R276H RIOK2_ENST00000508447.1_Missense_Mutation_p.R276H|CTD-2215E18.1_ENST00000509481.1_Intron NM_018343.2 NP_060813.2 Q9BVS4 RIOK2_HUMAN RIO kinase 2 276 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2) 23 all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0657) GTAGCTGAAACGTTTCATAAA 0.323000 6 77 0 0 1 0 0 PSME2 5721 broad.mit.edu 37 14 24614967 24614967 + Silent SNP G G C TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr14:24614967G>C ENST00000216802.5 - 3 735 c.96C>G c.(94-96)ctC>ctG p.L32L PSME2_ENST00000471700.2_5'UTR|PSME2_ENST00000560410.1_Silent_p.L21L NM_002818.2 NP_002809.2 Q9UL46 PSME2_HUMAN proteasome (prosome, macropain) activator subunit 2 (PA28 beta) 32 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome activator complex endometrium(1)|lung(3)|prostate(2) 6 GBM - Glioblastoma multiforme(265;0.00839) AGAATCTGTAGAGGAATTCCT 0.473000 12 19 0 0 1 0 0 SALL2 6297 broad.mit.edu 37 14 21991527 21991527 + Missense_Mutation SNP C C T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr14:21991527C>T ENST00000327430.3 - 2 2629 c.2335G>A c.(2335-2337)Gat>Aat p.D779N SALL2_ENST00000450879.2_Missense_Mutation_p.D642N|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron NM_005407.1 NP_005398.1 Q9Y467 SALL2_HUMAN spalt-like transcription factor 2 779 DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2) 43 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) GAATCTTCATCAGTCACAtct 0.552000 3 35 0 0 1 0 0 TET1 80312 broad.mit.edu 37 10 70406450 70406450 + Nonsense_Mutation SNP C C T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr10:70406450C>T ENST00000373644.4 + 4 4173 c.3964C>T c.(3964-3966)Cag>Tag p.Q1322* NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 1322 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 AATACGGTTTCAGCAGGTTGT 0.502000 8 52 0 0 1 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3678470 3678470 + Silent SNP G G T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr20:3678470G>T ENST00000344754.4 - 8 2096 c.2097C>A c.(2095-2097)tcC>tcA p.S699S SIGLEC1_ENST00000202578.4_Silent_p.S699S NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 699 Ig-like C2-type 6. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 TGGCTGAGGTGGAGGCGTTGC 0.612000 17 24 1.15088e-07 1.20806e-07 1 1 0 PLCB2 5330 broad.mit.edu 37 15 40594234 40594234 + Splice_Site SNP C C T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr15:40594234C>T ENST00000260402.3 - 7 756 c.e7-1 PLCB2_ENST00000543785.2_Splice_Site|PLCB2_ENST00000456256.2_Splice_Site|PLCB2_ENST00000557821.1_Splice_Site NM_001284297.1|NM_004573.2 NP_001271226.1|NP_004564.2 Q00722 PLCB2_HUMAN phospholipase C, beta 2 activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) CTGGAAAAAGCTGAAGGGGCA 0.602000 11 30 0 0 1 0 0 NDC80 10403 broad.mit.edu 37 18 2578109 2578109 + Missense_Mutation SNP G G A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr18:2578109G>A ENST00000261597.4 + 5 627 c.445G>A c.(445-447)Gaa>Aaa p.E149K NM_006101.2 NP_006092.1 O14777 NDC80_HUMAN NDC80 kinetochore complex component 149 Interaction with RB1.|Interaction with the N-terminus of CDCA1.|Nuclear localization. attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex protein binding NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2) 22 AAAGTTTGAAGAAGAGGTTCC 0.373000 21 70 0 0 1 0 0 PINK1 65018 broad.mit.edu 37 1 20960365 20960365 + Frame_Shift_Del DEL G G - rs45540544 TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr1:20960365delG ENST00000321556.4 + 1 418 c.324delG c.(322-324)ctgfs p.L108fs NM_032409.2 NP_115785.1 Q9BXM7 PINK1_HUMAN PTEN induced putative kinase 1 108 cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress cytosol|integral to membrane|mitochondrial outer membrane ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2) 14 all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GGCTAGGGCTGGGCCTCATCG 0.731 2 4 --- --- --- --- RAD21 5885 broad.mit.edu 37 8 117862883 117862883 + Frame_Shift_Del DEL C C - TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr8:117862883delC ENST00000297338.2 - 12 1881 c.1594delG c.(1594-1596)gaafs p.E532fs RAD21_ENST00000523986.1_Frame_Shift_Del_p.E36fs|RAD21_ENST00000518055.1_Frame_Shift_Del_p.E77fs NM_006265.2 NP_006256.1 O60216 RAD21_HUMAN RAD21 homolog (S. pombe) 532 apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1) 32 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) TCTtctttttccttctctttc 0.373 18 69 --- --- --- --- TPTE2P1 646405 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 4 4 --- --- --- --- YY1 7528 broad.mit.edu 37 14 100705708 100705710 + In_Frame_Del DEL GAG GAG - TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chr14:100705708_100705710delGAG ENST00000262238.4 + 1 387_389 c.127_129delGAG c.(127-129)gagdel p.E47del NM_003403.3 NP_003394.1 P25490 TYY1_HUMAN YY1 transcription factor 47 Asp/Glu-rich (acidic). cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis Ino80 complex|nuclear matrix|plasma membrane four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding p.E43delE(1) cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1) 11 Melanoma(154;0.152) AGTggtgggcgaggaggaggagg 0.719 5 8 --- --- --- --- KDM6A 7403 broad.mit.edu 37 X 44929442 44929442 + Frame_Shift_Del DEL C C - TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f221f317-1da7-437b-9810-d18cc320e339 77ece96f-b1b7-413e-af73-03c11a8f5e91 g.chrX:44929442delC ENST00000377967.4 + 17 2583 c.2542delC c.(2542-2544)cacfs p.H848fs KDM6A_ENST00000382899.4_Frame_Shift_Del_p.H855fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.H769fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.H803fs NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 848 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 TAACAGCCCTCACAGTGGGCT 0.463 """D, N, F, S""" """renal, oesophageal SCC, MM""" 13 25 --- --- --- ---