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 MYH11 4629 broad.mit.edu 37 16 15841523 15841523 + Missense_Mutation SNP G G C TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr16:15841523G>C ENST00000452625.2 - 20 2423 c.2336C>G c.(2335-2337)aCt>aGt p.T779S MYH11_ENST00000576790.2_Missense_Mutation_p.T772S|MYH11_ENST00000396324.3_Missense_Mutation_p.T779S|MYH11_ENST00000300036.5_Missense_Mutation_p.T772S NM_001040113.1 NP_001035202.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 772 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 CAGGACGCCAGTTCGGAAGAA 0.507000 T CBFB AML 4 74 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274416 39274416 + Missense_Mutation SNP C C T rs408579 by1000genomes TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr17:39274416C>T ENST00000391413.2 - 1 190 c.152G>A c.(151-153)aGg>aAg p.R51K NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 51 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament p.R51K(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCACTGGGGCCTGCAGCAGCT 0.672000 4 65 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113170982 113170982 + Missense_Mutation SNP T T G TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr9:113170982T>G ENST00000401783.2 - 38 7234 c.6898A>C c.(6898-6900)Agt>Cgt p.S2300R SVEP1_ENST00000374469.1_Missense_Mutation_p.S2277R|SVEP1_ENST00000297826.5_Missense_Mutation_p.S226R NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2300 Sushi 15. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 GTCCAAGAACTGTCACCAACA 0.468000 5 74 0 0 1 0 0 KCNQ5 56479 broad.mit.edu 37 6 73843305 73843305 + Missense_Mutation SNP G G A TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr6:73843305G>A ENST00000342056.2 + 11 1864 c.1466G>A c.(1465-1467)cGa>cAa p.R489Q KCNQ5_ENST00000414165.2_Intron|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R461Q|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R480Q|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R471Q|KCNQ5_ENST00000370398.1_Missense_Mutation_p.R470Q|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R470Q NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 470 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) TTCAACGACCGAACCCGCTTC 0.542000 11 34 0 0 1 0 0 WDR90 197335 broad.mit.edu 37 16 708562 708562 + Missense_Mutation SNP C C T TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr16:708562C>T ENST00000549091.1 + 23 2896 c.2804C>T c.(2803-2805)aCg>aTg p.T935M WDR90_ENST00000293879.4_Missense_Mutation_p.T935M NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 935 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) CCCTCCTTGACGCTCAGTGAG 0.672000 18 48 0 0 1 0 0 PCNX 22990 broad.mit.edu 37 14 71444608 71444608 + Missense_Mutation SNP T T A TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr14:71444608T>A ENST00000304743.2 + 6 2000 c.1554T>A c.(1552-1554)agT>agA p.S518R PCNX_ENST00000238570.5_Missense_Mutation_p.S518R|PCNX_ENST00000439984.3_Missense_Mutation_p.S518R NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 518 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) AAGAGAAGAGTGATAAGTCAG 0.433000 27 56 0 0 1 0 0 BCAS3 54828 broad.mit.edu 37 17 59112096 59112096 + Missense_Mutation SNP C C G TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr17:59112096C>G ENST00000589222.1 + 17 1775 c.1707C>G c.(1705-1707)atC>atG p.I569M BCAS3_ENST00000408905.3_Missense_Mutation_p.I569M|BCAS3_ENST00000588874.1_Missense_Mutation_p.I340M|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000588462.1_Missense_Mutation_p.I584M|BCAS3_ENST00000407086.3_Missense_Mutation_p.I569M|BCAS3_ENST00000390652.5_Missense_Mutation_p.I584M|BCAS3_ENST00000585744.1_Missense_Mutation_p.I355M Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 584 nucleus NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) TGGCTGCTATCTTCGGAACAT 0.338000 5 56 0 0 1 0 0 SOCS3 9021 broad.mit.edu 37 17 76354650 76354650 + Missense_Mutation SNP A A T TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr17:76354650A>T ENST00000330871.2 - 2 942 c.527T>A c.(526-528)cTg>cAg p.L176Q NM_003955.3 NP_003946.3 O14543 SOCS3_HUMAN suppressor of cytokine signaling 3 176 anti-apoptosis|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol protein kinase inhibitor activity kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554) GCTCAACACCAGGGGGATCTT 0.632000 5 52 0 0 1 0 0 SERTM1 400120 broad.mit.edu 37 13 37269311 37269311 + Silent SNP C C T TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr13:37269311C>T ENST00000315190.3 + 2 542 c.96C>T c.(94-96)gaC>gaT p.D32D NM_203451.2 NP_982276.2 A2A2V5 CM036_HUMAN serine-rich and transmembrane domain containing 1 32 integral to membrane CGTCAGTGGACCCATCCTCAG 0.478000 4 106 0 0 1 0 0 PLXNB3 5365 broad.mit.edu 37 X 153039009 153039009 + Silent SNP A A G TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chrX:153039009A>G ENST00000538966.1 + 20 3460 c.3189A>G c.(3187-3189)ctA>ctG p.L1063L PLXNB3_ENST00000538776.1_Silent_p.L693L|PLXNB3_ENST00000538282.1_Silent_p.L650L|PLXNB3_ENST00000361971.5_Silent_p.L1040L NM_001163257.1 NP_001156729.1 Q9ULL4 PLXB3_HUMAN plexin B3 1040 IPT/TIG 3. axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) GCACCGGCCTAGACGTGGTGC 0.687000 16 25 0 0 1 0 0 KRTAP4-3 85290 broad.mit.edu 37 17 39324104 39324104 + Silent SNP A A G rs66489415 TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr17:39324104A>G ENST00000391356.2 - 1 320 c.321T>C c.(319-321)tcT>tcC p.S107S NM_033187.1 NP_149443.1 Q9BYR4 KRA43_HUMAN keratin associated protein 4-3 107 29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA]. Missing (in allele KAP3-v2). keratin filament p.S107S(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 12 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) TGCAGCAACTAGAAATGCAGC 0.597000 3 23 0 0 1 0 0 DMRT1 1761 broad.mit.edu 37 9 847049 847049 + Missense_Mutation SNP A A C TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr9:847049A>C ENST00000382276.3 + 2 593 c.444A>C c.(442-444)aaA>aaC p.K148N DMRT1_ENST00000569227.1_5'UTR NM_021951.2 NP_068770.2 Q9Y5R6 DMRT1_HUMAN doublesex and mab-3 related transcription factor 1 148 cell differentiation|male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(2)|lung(10)|ovary(1) 13 all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232) Lung(218;0.037) TGCTTGTCAAAAGAGAGAACA 0.607000 24 10 0 0 1 0 0 GLTP 51228 broad.mit.edu 37 12 110290360 110290360 + Nonstop_Mutation SNP C C G TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr12:110290360C>G ENST00000318348.4 - 5 743 c.630G>C c.(628-630)taG>taC p.*210Y GLTP_ENST00000544393.1_Nonstop_Mutation_p.*191Y NM_016433.3 NP_057517.1 Q9NZD2 GLTP_HUMAN glycolipid transfer protein 0 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) GTGGGCATGCCTACACCTTGT 0.537000 19 199 0 0 1 0 0 MYO19 80179 broad.mit.edu 37 17 34870990 34870990 + Missense_Mutation SNP G G A TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr17:34870990G>A ENST00000431794.3 - 8 1105 c.583C>T c.(583-585)Cgc>Tgc p.R195C MYO19_ENST00000268852.9_Missense_Mutation_p.R195C|MYO19_ENST00000586007.1_Missense_Mutation_p.R195C|MYO19_ENST00000544606.1_Missense_Mutation_p.R61C NM_001163735.1 NP_001157207.1 Q96H55 MYO19_HUMAN myosin XIX 195 Myosin head-like. mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1) 20 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) TTCCCAAAGCGACTGCTGTTG 0.522000 3 17 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6182827 6182827 + Nonsense_Mutation SNP C C A TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr12:6182827C>A ENST00000261405.5 - 8 1209 c.955G>T c.(955-957)Gaa>Taa p.E319* NM_000552.3 NP_000543 P04275 VWF_HUMAN von Willebrand factor 319 TIL 1. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) TGACACATTTCATTGATGTGC 0.537000 7 56 2.0095e-06 2.21417e-06 1 1 0 RFPL2 10739 broad.mit.edu 37 22 32590424 32590424 + Missense_Mutation SNP A A T TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr22:32590424A>T ENST00000400237.1 - 3 1108 c.173T>A c.(172-174)cTc>cAc p.L58H RFPL2_ENST00000400236.3_5'UTR|RFPL2_ENST00000248983.4_Intron O75678 RFPL2_HUMAN ret finger protein-like 2 58 zinc ion binding endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 21 TTTATTGGTGAGATTCCCACC 0.522000 8 20 0 0 1 0 0 GTPBP1 9567 broad.mit.edu 37 22 39120312 39120312 + Silent SNP G G A TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr22:39120312G>A ENST00000216044.5 + 6 1202 c.969G>A c.(967-969)aaG>aaA p.K323K NM_004286.4 NP_004277.2 O00178 GTPB1_HUMAN GTP binding protein 1 323 immune response|positive regulation of mRNA catabolic process|signal transduction cytoplasmic exosome (RNase complex)|cytosol GTP binding|GTPase activity endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 18 Melanoma(58;0.04) AAACCCTGAAGCTGTTACAGC 0.517000 17 42 0 0 1 0 0 ATRIP 84126 broad.mit.edu 37 3 48506305 48506305 + Missense_Mutation SNP G G A rs72556553 byFrequency TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr3:48506305G>A ENST00000412052.1 + 12 2314 c.1852G>A c.(1852-1854)Gac>Aac p.D618N ATRIP_ENST00000346691.4_Missense_Mutation_p.D684N|ATRIP_ENST00000357105.6_Missense_Mutation_p.D584N|ATRIP_ENST00000320211.3_Missense_Mutation_p.D711N NM_001271023.1 NP_001257952.1 Q8WXE1 ATRIP_HUMAN ATR interacting protein 711 DNA damage checkpoint|DNA repair|DNA replication nucleoplasm protein binding|protein serine/threonine kinase activity central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1) 22 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CCCAAGGACCGACCAGCAGAG 0.637000 Other conserved DNA damage response genes 5 36 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 35 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186275982 186275982 + Silent SNP C C T TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr1:186275982C>T ENST00000445192.2 + 7 1176 c.1131C>T c.(1129-1131)acC>acT p.T377T PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367484.3_Silent_p.T336T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 377 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACCCCCAAGGAGC 0.637000 4 116 0 0 1 0 0 LILRA6 79168 broad.mit.edu 37 19 54744186 54744186 + Missense_Mutation SNP A A G TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr19:54744186A>G ENST00000419410.2 - 6 1223 c.1222T>C c.(1222-1224)Tct>Cct p.S408P LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000245621.5_Missense_Mutation_p.S408P|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000396365.2_Missense_Mutation_p.S408P|LILRA6_ENST00000440558.2_Intron leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2) 38 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CTGGGGAAAGACAGCAGGTGG 0.617000 4 251 0 0 1 0 0 ACAD11 84129 broad.mit.edu 37 3 132347272 132347272 + Missense_Mutation SNP G G T TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr3:132347272G>T ENST00000264990.6 - 8 1953 c.982C>A c.(982-984)Ctt>Att p.L328I ACAD11_ENST00000355458.3_Missense_Mutation_p.L328I|ACAD11_ENST00000481970.2_Missense_Mutation_p.L328I|ACAD11_ENST00000545291.1_5'UTR NM_032169.4 NP_115545 acyl-CoA dehydrogenase family, member 11 breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 36 TTTCCCAGAAGATATCTGCTA 0.343000 7 206 1.06961e-07 1.21223e-07 1 1 0 PPP1R36 145376 broad.mit.edu 37 14 65056036 65056036 + Missense_Mutation SNP C C T TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr14:65056036C>T ENST00000298705.1 + 12 1345 c.1249C>T c.(1249-1251)Cat>Tat p.H417Y RP11-973N13.3_ENST00000556634.1_RNA|RP11-973N13.3_ENST00000554454.1_RNA NM_172365.1 NP_758953.1 Q96LQ0 CN050_HUMAN protein phosphatase 1, regulatory subunit 36 417 ACTGTCCTCTCATACATCATG 0.343000 8 79 0 0 1 0 0 GBP2 2634 broad.mit.edu 37 1 89583361 89583361 + Missense_Mutation SNP G G T TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr1:89583361G>T ENST00000370466.3 - 5 792 c.524C>A c.(523-525)gCa>gAa p.A175E GBP2_ENST00000463660.1_5'UTR NM_004120.3 NP_004111.2 P32456 GBP2_HUMAN guanylate binding protein 2, interferon-inducible 175 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway plasma membrane GTP binding|GTPase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1) 20 Lung NSC(277;0.0908) all cancers(265;0.0151)|Epithelial(280;0.0284) CCACACAAATGCTGGAAAAAA 0.453000 6 66 8.12818e-05 8.6362e-05 1 1 0 MICU3 286097 broad.mit.edu 37 8 16963025 16963025 + Nonsense_Mutation SNP C C T TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr8:16963025C>T ENST00000318063.5 + 11 1231 c.1189C>T c.(1189-1191)Cga>Tga p.R397* MICU3_ENST00000519866.1_3'UTR NM_181723.2 NP_859074.1 mitochondrial calcium uptake family, member 3 TATTCTTTTACGATATACAAA 0.308000 5 52 0 0 1 0 0 ZNF25 219749 broad.mit.edu 37 10 38241968 38241968 + Missense_Mutation SNP T T A TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr10:38241968T>A ENST00000302609.7 - 6 670 c.458A>T c.(457-459)aAa>aTa p.K153I ZNF25_ENST00000374633.1_5'UTR NM_145011.2 NP_659448.1 P17030 ZNF25_HUMAN zinc finger protein 25 153 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157) AGAGAAAGATTTCCCACATTT 0.368000 73 67 0 0 1 0 0 ALLC 55821 broad.mit.edu 37 2 3750128 3750128 + Missense_Mutation SNP C C T TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr2:3750128C>T ENST00000252505.3 + 12 1313 c.1151C>T c.(1150-1152)tCg>tTg p.S384L NM_018436.3 NP_060906.3 Q8N6M5 ALLC_HUMAN allantoicase 403 allantoicase activity breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 30 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) TTGAAGTTCTCGGTGAGCTTC 0.557000 HNSCC(21;0.051) 9 15 0 0 1 0 0 ARAP2 116984 broad.mit.edu 37 4 36179490 36179490 + Missense_Mutation SNP C C T TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr4:36179490C>T ENST00000303965.4 - 9 2305 c.1816G>A c.(1816-1818)Gtg>Atg p.V606M NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 606 PH 2. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 CCACTTAACACAGTAAAAATT 0.368000 26 53 0 0 1 0 0 GRAMD1A 57655 broad.mit.edu 37 19 35510308 35510308 + Missense_Mutation SNP G G A TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr19:35510308G>A ENST00000599564.1 + 14 1678 c.1607G>A c.(1606-1608)cGc>cAc p.R536H GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R442H|GRAMD1A_ENST00000504615.2_Missense_Mutation_p.R215H|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.R449H|CTD-2527I21.14_ENST00000605640.1_RNA Q96CP6 GRM1A_HUMAN GRAM domain containing 1A 449 integral to membrane NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 19 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) CTGTTCCGGCGCGGCCCCCAG 0.687000 42 60 0 0 1 0 0 FGFR3 2261 broad.mit.edu 37 4 1806099 1806099 + Missense_Mutation SNP A A G rs121913485 TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr4:1806099A>G ENST00000340107.4 + 9 1380 c.1124A>G c.(1123-1125)tAt>tGt p.Y375C FGFR3_ENST00000260795.2_Missense_Mutation_p.Y373C|FGFR3_ENST00000440486.2_Missense_Mutation_p.Y373C|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000481110.2_Missense_Mutation_p.Y373C NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 373 G -> C (in ACH). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.Y373C(395) NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) GGCAGTGTGTATGCAGGCATC 0.682000 Y373C(KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 83 20 0 0 1 0 0 POT1 25913 broad.mit.edu 37 7 124487052 124487052 + Splice_Site SNP C C A TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr7:124487052C>A ENST00000357628.3 - 12 1548 c.950G>T c.(949-951)aGc>aTc p.S317I POT1_ENST00000393329.1_Splice_Site_p.S186I NM_015450.2 NP_056265.2 Q9NUX5 POTE1_HUMAN protection of telomeres 1 317 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 TGATCCAGAGCCTATAAAAAG 0.343000 14 27 4.7546e-09 5.54704e-09 1 1 0 ARHGAP20 57569 broad.mit.edu 37 11 110450479 110450479 + Missense_Mutation SNP A A T TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr11:110450479A>T ENST00000260283.4 - 16 3475 c.3191T>A c.(3190-3192)aTa>aAa p.I1064K ARHGAP20_ENST00000529591.1_Missense_Mutation_p.I607K|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.I1041K|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.I1038K|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.I1028K|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.I1028K|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.I1038K NM_020809.3 NP_065860.2 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 1064 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 60 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) TGGAGAAGCTATTTTCTCTTC 0.483000 47 77 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125262121 125262121 + Nonsense_Mutation SNP G G T TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr2:125262121G>T ENST00000431078.1 + 8 1676 c.1312G>T c.(1312-1314)Gaa>Taa p.E438* NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 438 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) ACGCGTAGCTGAAATCCTCAC 0.493000 13 25 0.00136819 0.00141578 1 1 0 AQR 9716 broad.mit.edu 37 15 35236591 35236591 + Missense_Mutation SNP A A T TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr15:35236591A>T ENST00000156471.5 - 6 594 c.369T>A c.(367-369)ttT>ttA p.F123L NM_014691.2 NP_055506.1 O60306 AQR_HUMAN aquarius intron-binding spliceosomal factor 123 catalytic step 2 spliceosome RNA binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) AGATGTGTTTAAAAAAGAATG 0.338000 5 219 0 0 1 0 0 CSRNP3 80034 broad.mit.edu 37 2 166536027 166536027 + Missense_Mutation SNP G G C TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr2:166536027G>C ENST00000314499.7 + 7 1898 c.1522G>C c.(1522-1524)Gaa>Caa p.E508Q CSRNP3_ENST00000342316.4_Missense_Mutation_p.E508Q|CSRNP3_ENST00000409420.1_Missense_Mutation_p.E540Q NM_001172173.1 NP_001165644.1 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 508 apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.E508K(1) breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2) 33 CTCCTCTTCCGAAAATGATAG 0.507000 3 39 0 0 1 0 0 IFT172 26160 broad.mit.edu 37 2 27703993 27703993 + Silent SNP G G A TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr2:27703993G>A ENST00000260570.3 - 8 808 c.705C>T c.(703-705)agC>agT p.S235S IFT172_ENST00000416524.2_Silent_p.S214S|IFT172_ENST00000359466.6_Silent_p.S235S NM_015662.1 NP_056477.1 Q9UG01 IF172_HUMAN intraflagellar transport 172 homolog (Chlamydomonas) 235 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) GAGGGTCACGGCTATAATCAA 0.498000 3 30 0 0 1 0 0 KRTAP5-5 439915 broad.mit.edu 37 11 1651678 1651678 + Missense_Mutation SNP G G A TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr11:1651678G>A ENST00000399676.2 + 1 646 c.608G>A c.(607-609)aGc>aAc p.S203N NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 203 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) AAGCCCTGTAGCTGCTTCTCA 0.597000 8 199 0 0 1 0 0 ZNF442 79973 broad.mit.edu 37 19 12461157 12461157 + Missense_Mutation SNP G G C TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr19:12461157G>C ENST00000242804.4 - 6 1824 c.1242C>G c.(1240-1242)ttC>ttG p.F414L ZNF442_ENST00000438182.1_Missense_Mutation_p.F345L NM_030824.2 NP_110451.1 Q9H7R0 ZN442_HUMAN zinc finger protein 442 414 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 31 TGGGATAAATGAAGGCTTTCC 0.418000 4 206 0 0 1 0 0 CAMSAP1 157922 broad.mit.edu 37 9 138712777 138712777 + Missense_Mutation SNP G G C TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr9:138712777G>C ENST00000389532.4 - 11 3794 c.3730C>G c.(3730-3732)Ccc>Gcc p.P1244A CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.P966A|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.P1255A NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 1244 cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) TCCTCGTCGGGGGCCTTCAGG 0.627000 7 25 0 0 1 0 0 RGAG1 57529 broad.mit.edu 37 X 109695650 109695650 + Missense_Mutation SNP C C A TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chrX:109695650C>A ENST00000465301.2 + 3 2051 c.1805C>A c.(1804-1806)tCc>tAc p.S602Y RGAG1_ENST00000540313.1_Missense_Mutation_p.S602Y NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 602 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 GGAGTGATGTCCTGTCCACAA 0.502000 20 123 1.2644e-06 1.40621e-06 1 1 0 KCNQ3 3786 broad.mit.edu 37 8 133153471 133153471 + Missense_Mutation SNP G G T rs147190128 TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr8:133153471G>T ENST00000388996.4 - 10 1790 c.1370C>A c.(1369-1371)cCt>cAt p.P457H KCNQ3_ENST00000519445.1_Missense_Mutation_p.P457H|KCNQ3_ENST00000521134.1_Missense_Mutation_p.P337H NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 457 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TTCTTTAGAAGGACTTTCTTC 0.458000 39 82 5.73237e-09 6.62283e-09 1 1 0 ABCA12 26154 broad.mit.edu 37 2 215821416 215821416 + Silent SNP G G A TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr2:215821416G>A ENST00000272895.7 - 42 6423 c.6204C>T c.(6202-6204)ggC>ggT p.G2068G ABCA12_ENST00000389661.4_Silent_p.G1750G|AC072062.1_ENST00000607412.1_RNA NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 2068 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GAGATACAGCGCCTAGGTTGT 0.373000 38 68 0 0 1 0 0 NPM3 10360 broad.mit.edu 37 10 103541540 103541540 + Missense_Mutation SNP C C G TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr10:103541540C>G ENST00000370110.5 - 5 512 c.490G>C c.(490-492)Gag>Cag p.E164Q NPM3_ENST00000474993.1_5'UTR NM_006993.2 NP_008924.1 O75607 NPM3_HUMAN nucleophosmin/nucleoplasmin 3 164 Asp/Glu-rich (highly acidic). nucleic acid binding large_intestine(3)|lung(1)|skin(1) 5 Colorectal(252;0.122) Epithelial(162;3.94e-09)|all cancers(201;2.13e-07) GGGCACAGCTCAACTTCTTCC 0.562000 OREG0020469 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 161 0 0 1 0 0 ZNF610 162963 broad.mit.edu 37 19 52869685 52869685 + Missense_Mutation SNP G G T TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr19:52869685G>T ENST00000601151.1 + 5 1377 c.925G>T c.(925-927)Gtc>Ttc p.V309F ZNF610_ENST00000403906.3_Missense_Mutation_p.V352F|ZNF610_ENST00000321287.8_Missense_Mutation_p.V352F|ZNF610_ENST00000327920.8_Missense_Mutation_p.V352F NM_001161427.1 NP_001154899.1 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 352 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.V352I(1) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2) 34 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) ATGTGGCAAGGTCTTTAGTCT 0.408000 5 94 0.000602214 0.000628627 1 1 0 MUC5B 727897 broad.mit.edu 37 11 1272702 1272702 + Silent SNP G G A TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr11:1272702G>A ENST00000447027.1 + 31 14659 c.14601G>A c.(14599-14601)acG>acA p.T4867T MUC5B_ENST00000529681.1_Silent_p.T4864T Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4864 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. A -> T (in dbSNP:rs3021155). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCGGTTCCACGGCCACCGCCT 0.647000 4 85 0 0 1 0 0 STXBP5 134957 broad.mit.edu 37 6 147560375 147560375 + Missense_Mutation SNP A A G TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr6:147560375A>G ENST00000367481.3 + 4 508 c.400A>G c.(400-402)Ata>Gta p.I134V STXBP5_ENST00000367480.3_Missense_Mutation_p.I134V|STXBP5_ENST00000179882.6_5'UTR|STXBP5_ENST00000546097.1_Missense_Mutation_p.I134V|STXBP5_ENST00000321680.6_Missense_Mutation_p.I134V NM_139244.4 NP_640337.3 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) 134 exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 42 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) GAGGCCTGCCATACTACATTC 0.353000 44 59 0 0 1 0 0 PPP6C 5537 broad.mit.edu 37 9 127920568 127920568 + Nonsense_Mutation SNP G G A TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr9:127920568G>A ENST00000451402.1 - 5 662 c.442C>T c.(442-444)Cga>Tga p.R148* PPP6C_ENST00000373547.4_Nonsense_Mutation_p.R111*|PPP6C_ENST00000373546.3_Intron|PPP6C_ENST00000415905.1_Nonsense_Mutation_p.R89* NM_001123355.1 NP_001116827.1 O00743 PPP6_HUMAN protein phosphatase 6, catalytic subunit 111 G1/S transition of mitotic cell cycle|protein dephosphorylation cytosol metal ion binding|protein binding|protein serine/threonine phosphatase activity NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3) 14 TGATTTCCTCGCAAAAGTGTA 0.363000 4 121 0 0 1 0 0 GPBP1L1 60313 broad.mit.edu 37 1 46120874 46120874 + Missense_Mutation SNP G G C TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr1:46120874G>C ENST00000355105.3 - 5 1538 c.178C>G c.(178-180)Cga>Gga p.R60G GPBP1L1_ENST00000290795.3_Missense_Mutation_p.R60G NM_021639.4 NP_067652.1 Q9HC44 GPBL1_HUMAN GC-rich promoter binding protein 1-like 1 60 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding GPBP1L1/MAST2_ENST00000361297(2) breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1) 21 Acute lymphoblastic leukemia(166;0.155) CCTGCAGTTCGTAGGGGACCA 0.453000 35 96 0 0 1 0 0 ZNF471 57573 broad.mit.edu 37 19 57036524 57036524 + Missense_Mutation SNP G G A rs142290015 TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr19:57036524G>A ENST00000308031.5 + 5 1221 c.1088G>A c.(1087-1089)cGt>cAt p.R363H ZNF471_ENST00000591537.1_Missense_Mutation_p.V223I|ZNF471_ENST00000593197.1_Intron NM_020813.2 NP_065864.2 Q9BX82 ZN471_HUMAN zinc finger protein 471 363 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0307) TCTTTTATTCGTCACTGGAGG 0.413000 36 79 0 0 1 0 0 ALDH3A2 224 broad.mit.edu 37 17 19555084 19555084 + Silent SNP C C T TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr17:19555084C>T ENST00000176643.6 + 2 824 c.378C>T c.(376-378)atC>atT p.I126I ALDH3A2_ENST00000579855.1_Silent_p.I126I|ALDH3A2_ENST00000339618.4_Silent_p.I126I|ALDH3A2_ENST00000395575.2_Silent_p.I126I|ALDH3A2_ENST00000581518.1_Silent_p.I126I P51648 AL3A2_HUMAN aldehyde dehydrogenase 3 family, member A2 126 cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development endoplasmic reticulum membrane|integral to membrane 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1) 13 all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245) NADH(DB00157) TAGGAGCCATCGCTGCAGGTC 0.433000 19 88 0 0 1 0 0 BRINP2 57795 broad.mit.edu 37 1 177199212 177199212 + Missense_Mutation SNP G G A TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr1:177199212G>A ENST00000361539.4 + 2 512 c.200G>A c.(199-201)cGc>cAc p.R67H NM_021165.2 NP_066988.1 bone morphogenetic protein/retinoic acid inducible neural-specific 2 67 CCCTTCCACCGCGCTCAGGAG 0.637000 36 50 0 0 1 0 0 ATG4C 84938 broad.mit.edu 37 1 63269512 63269512 + Missense_Mutation SNP G G T TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr1:63269512G>T ENST00000317868.4 + 2 262 c.55G>T c.(55-57)Gct>Tct p.A19S ATG4C_ENST00000371120.3_Missense_Mutation_p.A19S NM_032852.3 NP_116241.2 Q96DT6 ATG4C_HUMAN autophagy related 4C, cysteine peptidase 19 autophagic vacuole assembly|protein targeting to membrane|proteolysis cytosol|extracellular region cysteine-type endopeptidase activity ATG4C/FBXO38(2) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2) 19 ATTTATATCTGCTTGGAACAA 0.303000 19 61 1.55795e-14 1.89179e-14 1 1 0 PPP1R9A 55607 broad.mit.edu 37 7 94827700 94827700 + Missense_Mutation SNP G G T TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr7:94827700G>T ENST00000289495.5 + 5 2010 c.1794G>T c.(1792-1794)gaG>gaT p.E598D PPP1R9A_ENST00000433881.1_Missense_Mutation_p.E598D|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.E598D|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.E598D|AC002429.5_ENST00000417881.2_RNA|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.E598D|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.E598D NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 598 Interacts with TGN38 (By similarity). cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) AAGTGAGCGAGGTTGCCCAGT 0.468000 HNSCC(28;0.073) 29 61 1.5548e-18 1.90743e-18 1 1 0 GBP4 115361 broad.mit.edu 37 1 89655755 89655755 + Missense_Mutation SNP T T G TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr1:89655755T>G ENST00000355754.6 - 7 1260 c.1163A>C c.(1162-1164)aAg>aCg p.K388T NM_052941.4 NP_443173.2 Q96PP9 GBP4_HUMAN guanylate binding protein 4 388 cytoplasm GTP binding|GTPase activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1) 33 all cancers(265;0.00723)|Epithelial(280;0.0291) GTTTTCATCCTTGAAGGAGTG 0.483000 5 74 0 0 1 0 0 MAGEB16 139604 broad.mit.edu 37 X 35820879 35820879 + Missense_Mutation SNP C C T TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chrX:35820879C>T ENST00000399989.1 + 2 845 c.566C>T c.(565-567)aCc>aTc p.T189I MAGEB16_ENST00000399988.1_Missense_Mutation_p.T189I|MAGEB16_ENST00000399992.1_Missense_Mutation_p.T221I|MAGEB16_ENST00000399987.1_Missense_Mutation_p.T189I|MAGEB16_ENST00000399985.1_Missense_Mutation_p.T189I NM_001099921.1 NP_001093391.1 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 189 MAGE. breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 CTGGGCCTCACCTATGATGGG 0.527000 10 77 0 0 1 0 0 PCDH19 57526 broad.mit.edu 37 X 99662022 99662022 + Missense_Mutation SNP T T C TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chrX:99662022T>C ENST00000373034.4 - 1 3249 c.1574A>G c.(1573-1575)cAg>cGg p.Q525R PCDH19_ENST00000255531.7_Missense_Mutation_p.Q525R|PCDH19_ENST00000420881.2_Missense_Mutation_p.Q525R NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 525 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 CGCCTTGGTCTGCTCGTGGTT 0.582000 44 95 0 0 1 0 0 PNISR 25957 broad.mit.edu 37 6 99854026 99854026 + Missense_Mutation SNP C C T TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr6:99854026C>T ENST00000369239.5 - 8 1087 c.883G>A c.(883-885)Gaa>Aaa p.E295K PNISR_ENST00000438806.1_Missense_Mutation_p.E295K NM_032870.2 NP_116259.2 Q8TF01 PNISR_HUMAN PNN-interacting serine/arginine-rich protein 295 nuclear speck breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 TCAGTGTCTTCTTCTTCCTCA 0.388000 9 43 0 0 1 0 0 DICER1 23405 broad.mit.edu 37 14 95562662 95562662 + Missense_Mutation SNP T T C TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr14:95562662T>C ENST00000526495.1 - 25 4886 c.4595A>G c.(4594-4596)gAa>gGa p.E1532G DICER1_ENST00000541352.1_Missense_Mutation_p.E1532G|DICER1_ENST00000527414.1_Missense_Mutation_p.E1532G|DICER1_ENST00000556045.1_Missense_Mutation_p.E430G|DICER1_ENST00000393063.1_Missense_Mutation_p.E1532G|DICER1_ENST00000343455.3_Missense_Mutation_p.E1532G Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 1532 negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) ACAGTTTTCTTCTGATGGATT 0.468000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 43 56 0 0 1 0 0 ANO3 63982 broad.mit.edu 37 11 26681860 26681860 + Missense_Mutation SNP C C A TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr11:26681860C>A ENST00000256737.3 + 27 3667 c.2815C>A c.(2815-2817)Cca>Aca p.P939T ANO3_ENST00000531568.1_Missense_Mutation_p.P793T|ANO3_ENST00000537978.1_Missense_Mutation_p.P923T|ANO3_ENST00000525139.1_Missense_Mutation_p.P923T NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 939 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 TCCAGACGTACCAAAGGGTCT 0.388000 5 107 0.184627 0.189402 1 1 0 CCT8L2 150160 broad.mit.edu 37 22 17072213 17072213 + Missense_Mutation SNP G G C TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr22:17072213G>C ENST00000359963.3 - 1 1487 c.1228C>G c.(1228-1230)Cca>Gca p.P410A NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 410 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CCAGCTCCTGGAATCAGTCTG 0.552000 13 40 0 0 1 0 0 CHPT1 56994 broad.mit.edu 37 12 102108314 102108314 + Missense_Mutation SNP C C G TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr12:102108314C>G ENST00000549872.1 + 3 644 c.454C>G c.(454-456)Cgc>Ggc p.R152G CHPT1_ENST00000550385.1_3'UTR|CHPT1_ENST00000229266.3_Missense_Mutation_p.R152G Q8WUD6 CHPT1_HUMAN choline phosphotransferase 1 152 platelet activating factor biosynthetic process|regulation of cell growth Golgi membrane|integral to membrane|microsome diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 AATTGCCGCTCGCTTAGGAAC 0.353000 4 74 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577094 7577094 + Missense_Mutation SNP G G A rs28934574 TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr17:7577094G>A ENST00000420246.2 - 8 976 c.844C>T c.(844-846)Cgg>Tgg p.R282W TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 282 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574). 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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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) TCTGTGCGCCGGTCTCTCCCA 0.557000 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) 10 7 0 0 1 0 0 MMP17 4326 broad.mit.edu 37 12 132325334 132325334 + Silent SNP C C T rs138755759 TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr12:132325334C>T ENST00000360564.1 + 4 741 c.639C>T c.(637-639)ccC>ccT p.P213P MMP17_ENST00000535291.1_Silent_p.P129P|MMP17_ENST00000535182.1_3'UTR NM_016155.4 NP_057239.4 Q9ULZ9 MMP17_HUMAN matrix metallopeptidase 17 (membrane-inserted) 213 proteolysis anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding endometrium(1)|large_intestine(3)|lung(1) 5 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05) CCTTCTTCCCCGGCCACCACC 0.692000 24 31 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554489 140554489 + Silent SNP G G A TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr5:140554489G>A ENST00000231137.3 + 1 2247 c.2073G>A c.(2071-2073)gcG>gcA p.A691A NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 691 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGGTGGTGGCGTTGGCCTCGG 0.706000 6 124 0 0 1 0 0 FRG1 2483 broad.mit.edu 37 4 190878646 190878646 + Nonsense_Mutation SNP G G T TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr4:190878646G>T ENST00000226798.4 + 6 748 c.526G>T c.(526-528)Gaa>Taa p.E176* FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 176 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus p.E176*(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) AGGAGAAGAAGAAATGATCAA 0.373000 4 53 1.23904e-05 1.34042e-05 1 1 0 RP1 6101 broad.mit.edu 37 8 55540138 55540138 + Silent SNP C C T TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr8:55540138C>T ENST00000220676.1 + 4 3844 c.3696C>T c.(3694-3696)atC>atT p.I1232I NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1232 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CACAAGGAATCTCCTCTTTGG 0.438000 6 142 0 0 1 0 0 SUCNR1 56670 broad.mit.edu 37 3 151599085 151599085 + Missense_Mutation SNP C C T TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr3:151599085C>T ENST00000362032.5 + 3 859 c.754C>T c.(754-756)Cgg>Tgg p.R252W RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA NM_033050.4 NP_149039.2 Q9BXA5 SUCR1_HUMAN succinate receptor 1 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) Succinic acid(DB00139) TCACGTCATGCGGAATGTGAG 0.502000 4 332 0 0 1 0 0 TPTE2 93492 broad.mit.edu 37 13 20012253 20012253 + Silent SNP G G A TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr13:20012253G>A ENST00000400230.2 - 14 1058 c.1014C>T c.(1012-1014)tcC>tcT p.S338S TPTE2_ENST00000382977.4_Silent_p.S338S|TPTE2_ENST00000382975.4_Silent_p.S298S|TPTE2_ENST00000400103.2_Silent_p.S227S|TPTE2_ENST00000457266.2_Silent_p.S227S|TPTE2_ENST00000390680.2_Silent_p.S261S|TPTE2_ENST00000255310.6_Silent_p.S261S|TPTE2_ENST00000382978.1_Silent_p.S298S Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 338 Phosphatase tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) AAAATATTTCGGAGGCAATAA 0.368000 23 50 0 0 1 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659591 24659591 + RNA SNP A A G TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr22:24659591A>G ENST00000414583.2 + 0 3116 NR_003714.1 ACTCACTGACATCGAAGGCTG 0.632000 3 30 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73961744 73961744 + Missense_Mutation SNP C C T TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chrX:73961744C>T ENST00000055682.6 - 3 3259 c.2648G>A c.(2647-2649)aGc>aAc p.S883N NM_001008537.2 NP_001008537.1 Q5QGS0 K2022_HUMAN KIAA2022 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TCTATAGTTGCTTGATTCCAT 0.478000 26 37 0 0 1 0 0 OR5D16 390144 broad.mit.edu 37 11 55607038 55607038 + Missense_Mutation SNP C C A TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr11:55607038C>A ENST00000378396.1 + 1 811 c.811C>A c.(811-813)Cac>Aac p.H271N NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) AAACTCCAGGCACACAGTCAA 0.493000 6 72 0.217242 0.219083 1 1 0 CUL3 8452 broad.mit.edu 37 2 225376176 225376176 + Missense_Mutation SNP T T C TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr2:225376176T>C ENST00000264414.4 - 6 1116 c.778A>G c.(778-780)Att>Gtt p.I260V CUL3_ENST00000409096.1_Missense_Mutation_p.I236V|CUL3_ENST00000409777.1_Missense_Mutation_p.I236V|CUL3_ENST00000344951.4_Missense_Mutation_p.I194V NM_003590.4 NP_003581.1 Q13618 CUL3_HUMAN cullin 3 260 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 46 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) ACCTTTACAATTGGTTCTTCC 0.353000 6 86 0 0 1 0 0 SLC4A3 6508 broad.mit.edu 37 2 220501471 220501471 + Missense_Mutation SNP G G A TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr2:220501471G>A ENST00000358055.3 + 16 2922 c.2410G>A c.(2410-2412)Gtc>Atc p.V804I SLC4A3_ENST00000317151.3_Missense_Mutation_p.V804I|SLC4A3_ENST00000373762.3_Missense_Mutation_p.V831I|SLC4A3_ENST00000373760.2_Missense_Mutation_p.V804I|SLC4A3_ENST00000273063.6_Missense_Mutation_p.V831I P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 804 Membrane (anion exchange). bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGTGGTCTTCGTCCTTGCCCT 0.592000 3 65 0 0 1 0 0 ARHGEF26 26084 broad.mit.edu 37 3 153943704 153943704 + Silent SNP T T C TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr3:153943704T>C ENST00000356448.4 + 11 2279 c.1995T>C c.(1993-1995)taT>taC p.Y665Y ARHGEF26_ENST00000483068.1_3'UTR|ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Silent_p.Y665Y NM_001251962.1 NP_001238891.1 Q96DR7 ARHGQ_HUMAN Rho guanine nucleotide exchange factor (GEF) 26 665 PH. regulation of Rho protein signal transduction intracellular|ruffle Rho guanyl-nucleotide exchange factor activity endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 23 TGACAGCCTATGTTGAAGACA 0.408000 39 66 0 0 1 0 0 CENPT 80152 broad.mit.edu 37 16 67863341 67863341 + Missense_Mutation SNP G G A TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr16:67863341G>A ENST00000562787.1 - 13 1813 c.1265C>T c.(1264-1266)gCg>gTg p.A422V CENPT_ENST00000564817.1_Missense_Mutation_p.A367V|CENPT_ENST00000219172.3_Missense_Mutation_p.A422V|CENPT_ENST00000440851.2_Missense_Mutation_p.A422V NM_025082.3 NP_079358.3 Q96BT3 CENPT_HUMAN centromere protein T 422 mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleus DNA binding NS(1)|breast(2)|lung(6)|urinary_tract(1) 10 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124) AGCACCAGGCGCTGGGGCTGG 0.582000 10 6 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4714966 4714966 + Missense_Mutation SNP G G A TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr3:4714966G>A ENST00000354582.6 + 21 2701 c.2351G>A c.(2350-2352)cGc>cAc p.R784H ITPR1_ENST00000423119.2_Missense_Mutation_p.R784H|ITPR1_ENST00000443694.2_Missense_Mutation_p.R769H|ITPR1_ENST00000456211.2_Missense_Mutation_p.R769H|ITPR1_ENST00000357086.4_Missense_Mutation_p.R784H|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.R769H Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 784 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) TCCTTCTGCCGCCTCATGCTT 0.572000 5 60 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154157720 154157720 + Nonsense_Mutation SNP C C A TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chrX:154157720C>A ENST00000360256.4 - 14 4545 c.4345G>T c.(4345-4347)Gaa>Taa p.E1449* NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1449 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TGACTGCTTTCTTGGACCCCA 0.418000 58 120 2.3441e-25 2.90571e-25 1 1 0 PPP4R1 9989 broad.mit.edu 37 18 9570662 9570662 + Missense_Mutation SNP G G A TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr18:9570662G>A ENST00000400556.3 - 11 1139 c.1066C>T c.(1066-1068)Cca>Tca p.P356S PPP4R1_ENST00000400555.3_Missense_Mutation_p.P339S NM_001042388.2 NP_001035847.1 Q8TF05 PP4R1_HUMAN protein phosphatase 4, regulatory subunit 1 356 protein phosphorylation|signal transduction protein phosphatase 4 complex protein binding|protein phosphatase type 4 regulator activity large_intestine(1)|skin(2) 3 ACATCCTCTGGGGCTTCTTGA 0.368000 4 99 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16860181 16860181 + Missense_Mutation SNP G G A TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr19:16860181G>A ENST00000524140.2 + 6 1146 c.728G>A c.(727-729)cGc>cAc p.R243H NWD1_ENST00000339803.6_Missense_Mutation_p.R108H|NWD1_ENST00000379808.3_Missense_Mutation_p.R243H|NWD1_ENST00000552788.1_Missense_Mutation_p.R243H|NWD1_ENST00000549814.1_Missense_Mutation_p.R243H|NWD1_ENST00000523826.1_Missense_Mutation_p.R37H NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 243 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 AAGACCCACCGCCTGCCGTGG 0.607000 31 43 0 0 1 0 0 PROS1 5627 broad.mit.edu 37 3 93603730 93603730 + Missense_Mutation SNP C C T TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr3:93603730C>T ENST00000394236.3 - 12 1650 c.1334G>A c.(1333-1335)cGt>cAt p.R445H PROS1_ENST00000407433.1_Missense_Mutation_p.R314H NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) 445 Laminin G-like 1. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) TCCATCTAGACGAGGGTTAAT 0.323000 30 46 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101910815 101910815 + Silent SNP G G A TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr13:101910815G>A ENST00000251127.6 - 11 1326 c.1245C>T c.(1243-1245)taC>taT p.Y415Y NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Silent_p.Y415Y NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 415 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AGAACTCGTCGTACTGCCTCC 0.547000 7 3 0 0 1 0 0 CALD1 800 broad.mit.edu 37 7 134642974 134642974 + Missense_Mutation SNP C C T TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr7:134642974C>T ENST00000361388.2 + 11 1773 c.1307C>T c.(1306-1308)tCg>tTg p.S436L CALD1_ENST00000361901.2_Missense_Mutation_p.S410L|CALD1_ENST00000361675.2_Missense_Mutation_p.S665L|CALD1_ENST00000393118.2_Missense_Mutation_p.S430L|CALD1_ENST00000422748.1_Missense_Mutation_p.S435L|CALD1_ENST00000417172.1_Missense_Mutation_p.S410L|CALD1_ENST00000543443.1_Missense_Mutation_p.S415L|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000495522.1_Missense_Mutation_p.S429L|CALD1_ENST00000424922.1_Missense_Mutation_p.S404L NM_033138.3|NM_033157.3 NP_149129.2|NP_149347.2 Q05682 CALD1_HUMAN caldesmon 1 665 cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding p.S665L(1) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10) 43 GGTGTCAAATCGACCCATCAA 0.403000 43 72 0 0 1 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659593 24659593 + RNA SNP C C T TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr22:24659593C>T ENST00000414583.2 + 0 3118 NR_003714.1 TCACTGACATCGAAGGCTGCC 0.632000 3 31 0 0 1 0 0 ZNF728 388523 broad.mit.edu 37 19 23159408 23159408 + Missense_Mutation SNP G G T TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr19:23159408G>T ENST00000594710.1 - 4 876 c.731C>A c.(730-732)aCt>aAt p.T244N NM_001267716.1 NP_001254645.1 zinc finger protein 728 CTTATGCTTAGTAAGGATTGA 0.398000 22 50 3.62473e-10 4.31343e-10 1 1 0 EP400 57634 broad.mit.edu 37 12 132547138 132547138 + Silent SNP A A G rs35873108 byFrequency TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr12:132547138A>G ENST00000333577.4 + 48 8443 c.8334A>G c.(8332-8334)caA>caG p.Q2778Q EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000330386.6_Silent_p.Q2661Q Q96L91 EP400_HUMAN E1A binding protein p400 2778 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2741Q(3)|p.Q2742Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcaacagcagcagc 0.602000 4 67 0 0 1 0 0 STAG2 10735 broad.mit.edu 37 X 123202462 123202462 + Missense_Mutation SNP T T C TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chrX:123202462T>C ENST00000371160.1 + 24 2604 c.2314T>C c.(2314-2316)Tgt>Cgt p.C772R STAG2_ENST00000218089.9_Missense_Mutation_p.C772R|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_Missense_Mutation_p.C703R|STAG2_ENST00000371157.3_Missense_Mutation_p.C772R|STAG2_ENST00000371144.3_Missense_Mutation_p.C772R|STAG2_ENST00000371145.3_Missense_Mutation_p.C772R NM_001282418.1 NP_001269347.1 Q8N3U4 STAG2_HUMAN stromal antigen 2 772 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 TTGTCAGATATGTCAACATTA 0.289000 81 117 0 0 1 0 0 MAGEA3 4102 broad.mit.edu 37 X 151935357 151935357 + Silent SNP T T C rs35014597 byFrequency TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chrX:151935357T>C ENST00000393902.3 - 3 1377 c.810A>G c.(808-810)gaA>gaG p.E270E MAGEA3_ENST00000370278.3_Silent_p.E270E P43357 MAGA3_HUMAN melanoma antigen family A, 3 270 MAGE. endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 15 Acute lymphoblastic leukemia(192;6.56e-05) CCCACAGGAATTCATAACATG 0.532000 22 252 0 0 1 0 0 MS4A7 58475 broad.mit.edu 37 11 60160192 60160192 + Missense_Mutation SNP T T A TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr11:60160192T>A ENST00000358246.1 + 5 639 c.446T>A c.(445-447)cTg>cAg p.L149Q MS4A7_ENST00000530234.2_Intron|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000534016.1_Missense_Mutation_p.L149Q|MS4A7_ENST00000300184.3_Missense_Mutation_p.L194Q NM_206938.1|NM_206940.1 NP_996821.1|NP_996823.1 Q9GZW8 MS4A7_HUMAN membrane-spanning 4-domains, subfamily A, member 7 194 integral to membrane receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1) 20 TTCACTGTGCTGGAGCTCTTA 0.507000 4 164 0 0 1 0 0 LCP2 3937 broad.mit.edu 37 5 169701311 169701311 + Silent SNP C C T TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr5:169701311C>T ENST00000046794.5 - 6 933 c.318G>A c.(316-318)tcG>tcA p.S106S NM_005565.3 NP_005556.1 Q13094 LCP2_HUMAN lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) 106 immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway cytosol protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 23 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) OV - Ovarian serous cystadenocarcinoma(192;0.247) TCACAAAGGACGACCAGCCCC 0.537000 6 14 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178952090 178952090 + Missense_Mutation SNP G G C rs121913277 TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr3:178952090G>C ENST00000263967.3 + 21 3302 c.3145G>C c.(3145-3147)Ggt>Cgt p.G1049R NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1049 PI3K/PI4K. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.G1049R(27)|p.G1049S(13) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGCACATCATGGTGGCTGGAC 0.378000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 40 63 0 0 1 0 0 C20orf166-AS1 253868 broad.mit.edu 37 20 61143430 61143430 + RNA SNP G G T TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr20:61143430G>T ENST00000475015.1 - 0 908 C20orf166-AS1_ENST00000412495.1_RNA GGTCACAGCTGCTCCTGGGAC 0.667000 13 43 1.05317e-09 1.24086e-09 1 1 0 TECTA 7007 broad.mit.edu 37 11 120984327 120984327 + Silent SNP C C T rs34605023 byFrequency TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr11:120984327C>T ENST00000392793.1 + 6 961 c.690C>T c.(688-690)atC>atT p.I230I TECTA_ENST00000264037.2_Silent_p.I230I O75443 TECTA_HUMAN tectorin alpha 230 NIDO. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CCCCCGAGATCGTGAATATCC 0.493000 39 38 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154133155 154133155 + Missense_Mutation SNP T T A TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chrX:154133155T>A ENST00000360256.4 - 16 5717 c.5517A>T c.(5515-5517)caA>caT p.Q1839H NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1839 F5/8 type A 3.|Plastocyanin-like 5. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CCATATGATGTTGCACTTTCC 0.413000 4 99 0 0 1 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140720764 140720764 + Silent SNP C C T TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr5:140720764C>T ENST00000394576.2 + 1 2226 c.2226C>T c.(2224-2226)ggC>ggT p.G742G PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTTTGTGGGCGTGGACGGGG 0.627000 56 65 0 0 1 0 0 F9 2158 broad.mit.edu 37 X 138643822 138643822 + Silent SNP G G T TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chrX:138643822G>T ENST00000218099.2 + 8 985 c.978G>T c.(976-978)gtG>gtT p.V326V F9_ENST00000394090.2_Silent_p.V288V NM_000133.3 NP_000124.1 P00740 FA9_HUMAN coagulation factor IX 326 Peptidase S1. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1) 35 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) AACCCTTAGTGCTAAACAGCT 0.423000 20 138 8.00594e-06 8.74043e-06 1 1 0 VARS2 57176 broad.mit.edu 37 6 30890956 30890956 + Missense_Mutation SNP G G A TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr6:30890956G>A ENST00000321897.5 + 23 2893 c.2261G>A c.(2260-2262)cGc>cAc p.R754H VARS2_ENST00000541562.1_Missense_Mutation_p.R784H|VARS2_ENST00000416670.2_Missense_Mutation_p.R754H|VARS2_ENST00000542001.1_Missense_Mutation_p.R614H|VARS2_ENST00000476162.1_3'UTR Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 754 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity p.R754L(1) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1) 46 AATGCTCTTCGCTTTATCCTC 0.517000 59 43 0 0 1 0 0 THRAP3 9967 broad.mit.edu 37 1 36766641 36766642 + Frame_Shift_Ins INS - - T TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr1:36766641_36766642insT ENST00000354618.5 + 10 2682_2683 c.2458_2459insT c.(2458-2460)gtgfs p.V820fs THRAP3_ENST00000469141.2_Frame_Shift_Ins_p.V820fs NM_005119.3 NP_005110.2 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 820 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CAAAGACTTTGTGGGTCCAAGT 0.510 T USP6 aneurysmal bone cysts 22 27 --- --- --- --- RPTN 126638 broad.mit.edu 37 1 152128637 152128640 + Frame_Shift_Del DEL TGTC TGTC - TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr1:152128637_152128640delTGTC ENST00000316073.3 - 3 999_1002 c.935_938delGACA c.(934-939)agacaafs p.RQ312fs NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 312 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 ACTCTGGCCTTGTCTGTCTGTCTG 0.515 7 991 --- --- --- --- ZNRD1-AS1 80862 broad.mit.edu 37 6 29970905 29970906 + RNA INS - - G rs139061936 by1000genomes TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr6:29970905_29970906insG ENST00000376797.3 - 0 1548 ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA gctgaggccctcttcccatggg 0.545 5 2 --- --- --- --- TRBV7-4 28594 broad.mit.edu 37 7 142176678 142176679 + RNA DEL CA CA - TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr7:142176678_142176679delCA ENST00000390369.2 - 0 49 GTAGTCATCGCACACACACACA 0.460 7 66 --- --- --- --- SLC26A7 115111 broad.mit.edu 37 8 92350397 92350411 + In_Frame_Del DEL CTTGTTATTGCACCA CTTGTTATTGCACCA - rs141877489 TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr8:92350397_92350411delCTTGTTATTGCACCA ENST00000276609.3 + 7 1054_1068 c.815_829delCTTGTTATTGCACCA c.(814-831)gcttgttattgcaccaat>gat p.272_277ACYCTN>D SLC26A7_ENST00000523719.1_In_Frame_Del_p.272_277ACYCTN>D|SLC26A7_ENST00000309536.2_In_Frame_Del_p.272_277ACYCTN>D NM_001282356.1|NM_052832.2 NP_001269285.1|NP_439897.1 Q8TE54 S26A7_HUMAN solute carrier family 26 (anion exchanger), member 7 272 basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) GCATCATTTGCTTGTTATTGCACCAATATGGAAAA 0.279 8 40 --- --- --- --- SET 6418 broad.mit.edu 37 9 131451933 131451933 + Splice_Site DEL A A - TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr9:131451933delA ENST00000322030.8 + 1 429 c.72delA c.(70-72)tca>tc p.S24fs SET_ENST00000372692.4_Intron|SET_ENST00000409104.3_Intron NM_003011.3 NP_003002.2 Q01105 SET_HUMAN SET nuclear oncogene 37 DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity endometrium(2)|kidney(1)|lung(2) 5 Myeloproliferative disorder(178;0.204) GBM - Glioblastoma multiforme(294;3.1e-09) ACGAGACCTCAGGTGAGAGCA 0.786 T NUP214 AML 2 4 --- --- --- --- MYOF 26509 broad.mit.edu 37 10 95111586 95111587 + Frame_Shift_Del DEL AG AG - TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr10:95111586_95111587delAG ENST00000371501.4 - 33 3620_3621 c.3498_3499delCT c.(3496-3501)atctgtfs p.IC1166fs MYOF_ENST00000358334.5_Frame_Shift_Del_p.IC1153fs|MYOF_ENST00000359263.4_Frame_Shift_Del_p.IC1166fs|MYOF_ENST00000371502.4_Frame_Shift_Del_p.IC1166fs Q9NZM1 MYOF_HUMAN myoferlin 1166 C2 4. blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TGGAGGAAACAGATATGAGCAT 0.426 47 23 --- --- --- --- BAD 572 broad.mit.edu 37 11 64039192 64039193 + In_Frame_Ins INS - - GGG TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr11:64039192_64039193insGGG ENST00000394532.3 - 2 540_541 c.270_271insCCC c.(268-273)cccagc>cccCCCagc p.90_91insP BAD_ENST00000394531.3_In_Frame_Ins_p.137_137P>PP|BAD_ENST00000544785.1_Intron|BAD_ENST00000309032.3_In_Frame_Ins_p.90_91insP NM_004322.3 NP_004313.1 Q92934 BAD_HUMAN BCL2-associated agonist of cell death 90 activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation cytosol|mitochondrial outer membrane caspase activator activity|phospholipid binding|protein kinase binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1) 4 CGAAAGGGGCTGGGCTCCTCCC 0.703 2 4 --- --- --- --- CYP4F8 11283 broad.mit.edu 37 19 15734900 15734904 + RNA DEL GAATG GAATG - TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chr19:15734900_15734904delGAATG ENST00000441682.2 + 0 1172_1176 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 TAAAGAGATTGAATGGTGAGTGCAG 0.546 10 47 --- --- --- --- KDM6A 7403 broad.mit.edu 37 X 44870265 44870266 + Splice_Site INS - - T TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 312614ab-1a74-45ec-a73f-766c826f4d00 12084bd8-631f-4671-8526-0630ed0e4460 g.chrX:44870265_44870266insT ENST00000377967.4 + 5 484 c.e5+1 KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 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(12)|p.0?(6)|p.?(1) 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 CATTTCAGTGGTAAGTTGACAT 0.317 """D, N, F, S""" """renal, oesophageal SCC, MM""" 21 45 --- --- --- ---