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 PKD1L1 168507 broad.mit.edu 37 7 47930253 47930253 + Silent SNP T T C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr7:47930253T>C ENST00000289672.2 - 16 2612 c.2562A>G c.(2560-2562)caA>caG p.Q854Q NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 854 REJ. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 CACTGAGCCATTGTGCCTCAA 0.602000 9 41 0 0 1 0 0 SLC38A2 54407 broad.mit.edu 37 12 46765027 46765027 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr12:46765027C>T ENST00000256689.5 - 2 494 c.50G>A c.(49-51)aGc>aAc p.S17N SLC38A2_ENST00000547252.1_5'UTR NM_018976.4 NP_061849.2 Q96QD8 S38A2_HUMAN solute carrier family 38, member 2 17 Regulates protein turnover upon amino acid deprivation (By similarity). cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 18 Lung SC(27;0.192)|Renal(347;0.236) OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374) GBM - Glioblastoma multiforme(48;0.226) GTAGCTGCTGCTGTCTTCATC 0.512000 33 121 0 0 1 0 0 KLC3 147700 broad.mit.edu 37 19 45854218 45854218 + Missense_Mutation SNP G G C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr19:45854218G>C ENST00000470402.1 + 11 1528 c.1428G>C c.(1426-1428)aaG>aaC p.K476N KLC3_ENST00000585434.1_Missense_Mutation_p.K461N|KLC3_ENST00000391946.2_Missense_Mutation_p.K462N|ERCC2_ENST00000391945.4_3'UTR Q6P597 KLC3_HUMAN kinesin light chain 3 462 cytoplasm|kinesin complex|microtubule microtubule motor activity breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1) 8 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) GCAGAATGAAGAGAGCCATGT 0.552000 9 94 0 0 1 0 0 TRPA1 8989 broad.mit.edu 37 8 72964852 72964852 + Missense_Mutation SNP G G A rs147715599 TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr8:72964852G>A ENST00000262209.4 - 14 2000 c.1793C>T c.(1792-1794)aCg>aTg p.T598M RP11-383H13.1_ENST00000457356.4_3'UTR|RP11-383H13.1_ENST00000537896.1_3'UTR|RP11-383H13.1_ENST00000524152.1_3'UTR NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 598 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) CCTGATGATCGTAAGAACAAC 0.448000 24 72 0 0 1 0 0 TDGF1 6997 broad.mit.edu 37 3 46621463 46621463 + Missense_Mutation SNP G G C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr3:46621463G>C ENST00000296145.5 + 5 1094 c.361G>C c.(361-363)Gac>Cac p.D121H LRRC2_ENST00000296144.3_5'UTR|TDGF1_ENST00000542931.1_Missense_Mutation_p.D105H NM_003212.3 NP_003203.1 P13385 TDGF1_HUMAN teratocarcinoma-derived growth factor 1 121 activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation anchored to membrane|cell surface|extrinsic to plasma membrane growth factor activity cervix(2)|endometrium(1)|kidney(1)|lung(4) 8 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) TGTGCCCCATGACACCTGGCT 0.557000 12 49 0 0 1 0 0 OR14C36 127066 broad.mit.edu 37 1 248512486 248512486 + Missense_Mutation SNP G G C rs142744958 TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr1:248512486G>C ENST00000317861.1 + 1 410 c.410G>C c.(409-411)cGa>cCa p.R137P NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 137 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R137Q(1) central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 GTGAACTCTCGAATCTGCATC 0.512000 12 102 0 0 1 0 0 CXCR2P1 3580 broad.mit.edu 37 2 218925149 218925149 + RNA SNP G G A rs6758271 by1000genomes TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr2:218925149G>A ENST00000439871.1 - 0 1231 NR_002712.1 TGATCAAGCCGTGTATGGCTA 0.502000 4 56 0 0 1 0 0 ELP3 55140 broad.mit.edu 37 8 27954743 27954743 + Silent SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr8:27954743C>T ENST00000256398.8 + 2 404 c.27C>T c.(25-27)ctC>ctT p.L9L ELP3_ENST00000537665.1_Intron|ELP3_ENST00000523760.1_3'UTR|ELP3_ENST00000524103.1_Intron|ELP3_ENST00000521015.1_5'UTR|ELP3_ENST00000380353.4_5'UTR|ELP3_ENST00000542181.1_5'UTR NM_001284220.1|NM_001284226.1|NM_018091.5 NP_001271149.1|NP_001271155.1|NP_060561.3 Q9H9T3 ELP3_HUMAN elongator acetyltransferase complex subunit 3 9 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183) CAGGAGATCTCAGCCCTGCTG 0.373000 6 87 0 0 1 0 0 TRIM49C 642612 broad.mit.edu 37 11 89774454 89774454 + Silent SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr11:89774454G>A ENST00000448984.1 + 8 1424 c.1095G>A c.(1093-1095)aaG>aaA p.K365K TRIM49C_ENST00000432771.1_Intron NM_001195234.1 NP_001182163.1 P0CI26 T49L2_HUMAN tripartite motif containing 49C 365 B30.2/SPRY. intracellular zinc ion binding endometrium(3)|kidney(1)|lung(4) 8 GGAAGGAGAAGAATCAGAATG 0.443000 18 68 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 71220684 71220684 + Nonsense_Mutation SNP C C A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr16:71220684C>A ENST00000393567.2 - 2 265 c.115G>T c.(115-117)Gaa>Taa p.E39* HYDIN_ENST00000538248.1_Nonsense_Mutation_p.E66*|HYDIN_ENST00000448089.2_Nonsense_Mutation_p.E39*|HYDIN_ENST00000448691.1_Nonsense_Mutation_p.E39*|HYDIN_ENST00000288168.10_Nonsense_Mutation_p.E56*|HYDIN_ENST00000393550.2_Nonsense_Mutation_p.E39*|HYDIN_ENST00000541601.1_Nonsense_Mutation_p.E56*|HYDIN_ENST00000321489.5_Nonsense_Mutation_p.E39* NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 39 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) ACTTCTTCTTCTGTAACCACC 0.413000 12 65 1.08611e-07 1.16489e-07 1 1 0 UGT8 7368 broad.mit.edu 37 4 115544466 115544466 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr4:115544466G>A ENST00000310836.6 + 2 952 c.430G>A c.(430-432)Gga>Aga p.G144R UGT8_ENST00000394511.3_Missense_Mutation_p.G144R NM_001128174.1 NP_001121646 Q16880 CGT_HUMAN UDP glycosyltransferase 8 144 central nervous system development|peripheral nervous system development integral to membrane 2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000632) TGATATGTGTGGATTTGTGAT 0.448000 49 97 0 0 1 0 0 EMILIN2 84034 broad.mit.edu 37 18 2892374 2892374 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr18:2892374C>T ENST00000254528.3 + 4 2408 c.2249C>T c.(2248-2250)tCg>tTg p.S750L NM_032048.2 NP_114437.2 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 750 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) ACGCTCAGGTCGCATTCCAGA 0.483000 21 165 0 0 1 0 0 ZNF706 51123 broad.mit.edu 37 8 102213947 102213947 + Missense_Mutation SNP A A T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr8:102213947A>T ENST00000520347.1 - 2 2979 c.23T>A c.(22-24)aTt>aAt p.I8N ZNF706_ENST00000518336.1_Missense_Mutation_p.I8N|ZNF706_ENST00000519882.1_Missense_Mutation_p.I8N|ZNF706_ENST00000311212.4_Missense_Mutation_p.I8N|ZNF706_ENST00000521272.1_Missense_Mutation_p.I8N|ZNF706_ENST00000520984.1_Missense_Mutation_p.I8N|ZNF706_ENST00000519744.1_Missense_Mutation_p.I8N|ZNF706_ENST00000517844.1_Missense_Mutation_p.I8N Q9Y5V0 ZN706_HUMAN zinc finger protein 706 8 intracellular zinc ion binding large_intestine(1)|ovary(2) 3 all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117) Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05) CTGAGACTGAATTTTCTGCTG 0.393000 8 36 0 0 1 0 0 ZC3HC1 51530 broad.mit.edu 37 7 129680811 129680811 + Missense_Mutation SNP G G T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr7:129680811G>T ENST00000358303.4 - 3 473 c.389C>A c.(388-390)cCa>cAa p.P130Q ZC3HC1_ENST00000311873.5_Missense_Mutation_p.P109Q|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.P130Q|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.P130Q NM_016478.3 NP_057562.3 Q86WB0 NIPA_HUMAN zinc finger, C3HC-type containing 1 130 cell division|mitosis nucleus protein kinase binding|zinc ion binding endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1) 22 Melanoma(18;0.0435) GTCAAAAGCTGGTTGTAAACT 0.418000 32 129 8.88839e-20 1.01652e-19 1 1 0 DCP2 167227 broad.mit.edu 37 5 112327847 112327847 + Missense_Mutation SNP C C G TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr5:112327847C>G ENST00000389063.2 + 3 433 c.235C>G c.(235-237)Caa>Gaa p.Q79E DCP2_ENST00000515408.1_Missense_Mutation_p.Q79E|DCP2_ENST00000543319.1_Intron NM_152624.5 NP_689837 Q8IU60 DCP2_HUMAN decapping mRNA 2 79 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding endometrium(3)|large_intestine(6)|lung(1) 10 all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443) OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171) TTTGCTGCCTCAAGGTGAAGA 0.353000 19 82 0 0 1 0 0 ZNF107 51427 broad.mit.edu 37 7 64168367 64168367 + Missense_Mutation SNP A A T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr7:64168367A>T ENST00000395391.1 + 4 3060 c.1685A>T c.(1684-1686)aAc>aTc p.N562I ZNF107_ENST00000344930.3_Missense_Mutation_p.N562I|ZNF107_ENST00000423627.1_Missense_Mutation_p.N562I Q9UII5 ZN107_HUMAN zinc finger protein 107 562 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1) 37 Lung NSC(55;0.00948)|all_lung(88;0.0249) AAAGTTTTTAACCAGTCCTCA 0.348000 32 50 0 0 1 0 0 OTUD7A 161725 broad.mit.edu 37 15 31793915 31793915 + Missense_Mutation SNP C C G TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr15:31793915C>G ENST00000382902.1 - 8 1241 c.1149G>C c.(1147-1149)caG>caC p.Q383H OTUD7A_ENST00000307050.4_Missense_Mutation_p.Q376H Q8TE49 OTU7A_HUMAN OTU domain containing 7A 376 Catalytic (By similarity).|TRAF-binding (By similarity). cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) GCTGGTCTCTCTGTTCCATGG 0.577000 9 57 0 0 1 0 0 ZNF35 7584 broad.mit.edu 37 3 44692740 44692740 + Missense_Mutation SNP G G C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr3:44692740G>C ENST00000396056.2 + 2 416 c.181G>C c.(181-183)Gag>Cag p.E61Q RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000296092.3_Missense_Mutation_p.E61Q|ZNF35_ENST00000542250.1_5'UTR|ZNF35_ENST00000399560.2_Missense_Mutation_p.E61Q|ZNF35_ENST00000453164.1_Missense_Mutation_p.E61Q NM_003420.3 NP_003411.3 P13682 ZNF35_HUMAN zinc finger protein 35 61 Globular domain. cellular response to retinoic acid|spermatogenesis nucleus|perinuclear region of cytoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 12 Ovarian(412;0.0228) OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) TGGATCAGAAGAGGAAGAAAA 0.537000 5 38 0 0 1 0 0 NEUROD4 58158 broad.mit.edu 37 12 55420612 55420612 + Missense_Mutation SNP G G C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr12:55420612G>C ENST00000242994.3 + 2 767 c.389G>C c.(388-390)aGa>aCa p.R130T NM_021191.2 NP_067014.2 Q9HD90 NDF4_HUMAN neuronal differentiation 4 130 Helix-loop-helix motif. amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 41 GAGACTCTTAGACTGGCCAGG 0.502000 16 67 0 0 1 0 0 EIF4G3 8672 broad.mit.edu 37 1 21183933 21183933 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr1:21183933C>T ENST00000602326.1 - 23 3735 c.3152G>A c.(3151-3153)cGg>cAg p.R1051Q EIF4G3_ENST00000400422.1_Missense_Mutation_p.R1045Q|EIF4G3_ENST00000264211.8_Missense_Mutation_p.R1045Q|EIF4G3_ENST00000374935.3_Missense_Mutation_p.R765Q|EIF4G3_ENST00000537738.1_Missense_Mutation_p.R535Q|EIF4G3_ENST00000536266.1_Missense_Mutation_p.R649Q|EIF4G3_ENST00000374937.3_Missense_Mutation_p.R1051Q NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 1045 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) GTCCAGTACCCGACTGTTCTT 0.463000 101 247 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48623896 48623896 + Missense_Mutation SNP G G C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr3:48623896G>C ENST00000328333.8 - 26 3526 c.3419C>G c.(3418-3420)aCa>aGa p.T1140R COL7A1_ENST00000454817.1_Missense_Mutation_p.T1140R NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1140 Nonhelical region (NC1).|VWFA 2. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TCTGTGAGCTGTGACCACGGC 0.592000 67 95 0 0 1 0 0 EVC2 132884 broad.mit.edu 37 4 5570351 5570351 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr4:5570351G>A ENST00000310917.2 - 20 3868 c.3137C>T c.(3136-3138)tCg>tTg p.S1046L EVC2_ENST00000344408.5_Missense_Mutation_p.S1126L|EVC2_ENST00000344938.1_Missense_Mutation_p.S1126L NM_001166136.1 NP_001159608.1 Q86UK5 LBN_HUMAN Ellis van Creveld syndrome 2 1126 integral to membrane NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 CGCCAGGTACGATGCCAGTCT 0.577000 6 11 0 0 1 0 0 PELI1 57162 broad.mit.edu 37 2 64322381 64322381 + Missense_Mutation SNP A A C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr2:64322381A>C ENST00000358912.4 - 7 1154 c.712T>G c.(712-714)Tta>Gta p.L238V NM_020651.3 NP_065702.2 Q96FA3 PELI1_HUMAN pellino E3 ubiquitin protein ligase 1 238 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1) 19 CCATCTTGTAACTGATTGGTT 0.398000 25 43 0 0 1 0 0 KRT73 319101 broad.mit.edu 37 12 53012246 53012246 + Silent SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr12:53012246G>A ENST00000305748.3 - 1 97 c.63C>T c.(61-63)tcC>tcT p.S21S NM_175068.2 NP_778238.1 Q86Y46 K2C73_HUMAN keratin 73 21 Gly-rich.|Head. keratin filament structural molecule activity p.S21S(2) NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) AGAGCACAGCGGAGCAGCCGC 0.642000 26 52 0 0 1 0 0 HYAL2 8692 broad.mit.edu 37 3 50357493 50357493 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr3:50357493C>T ENST00000447092.1 - 1 2720 c.428G>A c.(427-429)cGc>cAc p.R143H HYAL2_ENST00000442581.1_Missense_Mutation_p.R143H|HYAL2_ENST00000357750.4_Missense_Mutation_p.R143H|HYAL2_ENST00000395139.3_Missense_Mutation_p.R143H|TUSC2_ENST00000462137.1_5'UTR Q12891 HYAL2_HUMAN hyaluronoglucosaminidase 2 143 anchored to membrane|lysosome|plasma membrane hyalurononglucosaminidase activity|receptor activity breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1) 7 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) Hyaluronidase(DB00070) CTGCCAGTTGCGCACCCACAC 0.592000 21 98 0 0 1 0 0 GALNTL6 442117 broad.mit.edu 37 4 173961175 173961175 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr4:173961175C>T ENST00000506823.1 + 13 2387 c.1730C>T c.(1729-1731)tCt>tTt p.S577F GALNTL6_ENST00000508122.1_Missense_Mutation_p.S560F NM_001034845.2 NP_001030017.2 Q49A17 GLTL6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 577 Ricin B-type lectin. Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 GACCCTCTCTCTGAGACTCAG 0.428000 16 71 0 0 1 0 0 FHL2 2274 broad.mit.edu 37 2 105979821 105979821 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr2:105979821G>A ENST00000336660.5 - 4 554 c.434C>T c.(433-435)gCg>gTg p.A145V FHL2_ENST00000358129.4_Silent_p.R203R|FHL2_ENST00000393353.3_Silent_p.R203R|FHL2_ENST00000344213.4_Silent_p.R313R|FHL2_ENST00000322142.8_Silent_p.R203R|FHL2_ENST00000409177.1_Silent_p.R319R|FHL2_ENST00000393352.3_Silent_p.R203R|FHL2_ENST00000409807.1_Silent_p.R203R|AC012360.6_ENST00000457290.2_RNA|FHL2_ENST00000408995.1_Silent_p.R203R Q14192 FHL2_HUMAN four and a half LIM domains 2 0 LIM zinc-binding 2. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent actin cytoskeleton|focal adhesion|nucleus androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 CAAAGTCATCGCGAGCTGTGA 0.612000 4 13 0 0 1 0 0 EIF4A3 9775 broad.mit.edu 37 17 78113852 78113852 + Missense_Mutation SNP C C G TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr17:78113852C>G ENST00000269349.3 - 5 681 c.460G>C c.(460-462)Gat>Cat p.D154H NM_014740.3 NP_055555.1 P38919 IF4A3_HUMAN eukaryotic translation initiation factor 4A3 154 Helicase ATP-binding. mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 10 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) TGTCCGTAATCCAGCTTCCTG 0.512000 4 55 0 0 1 0 0 SLC9B1 150159 broad.mit.edu 37 4 103867833 103867833 + Missense_Mutation SNP T T C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr4:103867833T>C ENST00000296422.7 - 5 637 c.496A>G c.(496-498)Ata>Gta p.I166V SLC9B1_ENST00000394789.3_Missense_Mutation_p.I166V NM_139173.3 NP_631912 Q4ZJI4 NHDC1_HUMAN solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 166 integral to membrane solute:hydrogen antiporter activity CCAGCTCTTATTAGAATAATG 0.363000 45 41 0 0 1 0 0 PLXNB3 5365 broad.mit.edu 37 X 153043091 153043091 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chrX:153043091G>A ENST00000538966.1 + 32 5549 c.5278G>A c.(5278-5280)Gag>Aag p.E1760K PLXNB3_ENST00000485980.1_3'UTR|PLXNB3_ENST00000538776.1_Missense_Mutation_p.E1390K|SRPK3_ENST00000489426.1_5'UTR|PLXNB3_ENST00000361971.5_Missense_Mutation_p.E1737K NM_001163257.1 NP_001156729.1 Q9ULL4 PLXB3_HUMAN plexin B3 1737 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) TGAGCTAGCAGAGAAGCACGG 0.582000 6 100 0 0 1 0 0 OPLAH 26873 broad.mit.edu 37 8 145113243 145113243 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr8:145113243G>A ENST00000426825.1 - 7 929 c.848C>T c.(847-849)tCc>tTc p.S283F OPLAH_ENST00000534424.1_5'UTR NM_017570.3 NP_060040.1 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 283 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) CACAGCACTGGAGCCGCTGAA 0.687000 4 10 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139393627 139393627 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr9:139393627C>T ENST00000277541.6 - 32 6094 c.6019G>A c.(6019-6021)Gtg>Atg p.V2007M NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 2007 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) ATGCCCTCCACGGCCAGGCGG 0.657000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 18 27 0 0 1 0 0 PRMT5 10419 broad.mit.edu 37 14 23393862 23393862 + Missense_Mutation SNP G G C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr14:23393862G>C ENST00000324366.8 - 9 1219 c.996C>G c.(994-996)atC>atG p.I332M PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000216350.8_Missense_Mutation_p.I271M|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000538452.1_Missense_Mutation_p.I226M|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5_ENST00000397440.4_Missense_Mutation_p.I161M|PRMT5_ENST00000397441.2_Missense_Mutation_p.I315M|PRMT5_ENST00000553897.1_Missense_Mutation_p.I288M NM_006109.3 NP_006100.2 O14744 ANM5_HUMAN protein arginine methyltransferase 5 332 cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 25 all_cancers(95;2.76e-05) GBM - Glioblastoma multiforme(265;0.0126) GAGAGTATTTGATGGGGTCCT 0.478000 6 52 0 0 1 0 0 OR52B2 255725 broad.mit.edu 37 11 6191265 6191265 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr11:6191265C>T ENST00000530810.1 - 1 373 c.292G>A c.(292-294)Gcc>Acc p.A98T RP11-290F24.3_ENST00000529961.1_RNA NM_001004052.1 NP_001004052.1 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, member 2 98 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTGACACAGGCATCAAAAGCA 0.517000 18 71 0 0 1 0 0 PLXND1 23129 broad.mit.edu 37 3 129304863 129304863 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr3:129304863C>T ENST00000393239.1 - 5 1961 c.1783G>A c.(1783-1785)Gag>Aag p.E595K PLXND1_ENST00000324093.4_Missense_Mutation_p.E595K Q9Y4D7 PLXD1_HUMAN plexin D1 595 axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 CTGGGGCCCTCGCTGGCACTG 0.657000 24 94 0 0 1 0 0 FAM160A2 84067 broad.mit.edu 37 11 6243787 6243787 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr11:6243787C>T ENST00000265978.4 - 6 1434 c.1076G>A c.(1075-1077)cGg>cAg p.R359Q FAM160A2_ENST00000524416.1_Missense_Mutation_p.R359Q|FAM160A2_ENST00000449352.2_Missense_Mutation_p.R359Q NM_001098794.1|NM_032127.3 NP_001092264.1|NP_115503.2 Q8N612 F16A2_HUMAN family with sequence similarity 160, member A2 359 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TGAGATACTCCGTAGGAAAAG 0.527000 17 37 0 0 1 0 0 ALAS1 211 broad.mit.edu 37 3 52248035 52248035 + Splice_Site SNP G G C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr3:52248035G>C ENST00000394965.2 + 12 2122 c.e12-1 ALAS1_ENST00000310271.2_Splice_Site|ALAS1_ENST00000484952.1_Splice_Site|ALAS1_ENST00000469224.1_Splice_Site NM_000688.5 NP_000679.1 P13196 HEM1_HUMAN aminolevulinate, delta-, synthase 1 heme biosynthetic process mitochondrial matrix 5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) TTTCTCCTCAGAGAATCTGCT 0.408000 11 46 0 0 1 0 0 TIE1 7075 broad.mit.edu 37 1 43778257 43778257 + Missense_Mutation SNP C C A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr1:43778257C>A ENST00000372476.3 + 12 1991 c.1912C>A c.(1912-1914)Ctt>Att p.L638I TIE1_ENST00000433781.2_Missense_Mutation_p.L283I NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 638 mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TGCACACGTGCTTCTGCCCCC 0.657000 24 29 2.44723e-14 2.76818e-14 1 1 0 PIP5K1A 8394 broad.mit.edu 37 1 151171506 151171506 + Missense_Mutation SNP G G C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr1:151171506G>C ENST00000409426.1 + 1 479 c.34G>C c.(34-36)Gtc>Ctc p.V12L PIP5K1A_ENST00000441902.2_Missense_Mutation_p.V12L|PIP5K1A_ENST00000368888.4_Missense_Mutation_p.V12L|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.V12L Q99755 PI51A_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, alpha 12 phospholipid biosynthetic process|signal transduction endomembrane system|Golgi stack|lamellipodium|nuclear speck 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1) 5 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181) GTCGTCTTCGGTCGGTTTTTC 0.612000 44 342 0 0 1 0 0 MDGA1 266727 broad.mit.edu 37 6 37622222 37622222 + Silent SNP G G T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr6:37622222G>T ENST00000297153.7 - 6 1988 c.810C>A c.(808-810)ctC>ctA p.L270L MDGA1_ENST00000505425.1_Silent_p.L270L|MDGA1_ENST00000434837.3_Silent_p.L270L Q8NFP4 MDGA1_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 1 270 Ig-like 3. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 GCAGCTGGGGGAGGGGATCAC 0.647000 22 41 7.45023e-12 8.20317e-12 1 1 0 NDUFB5 4711 broad.mit.edu 37 3 179322629 179322629 + Missense_Mutation SNP G G T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr3:179322629G>T ENST00000493866.1 + 1 51 c.26G>T c.(25-27)cGg>cTg p.R9L NDUFB5_ENST00000259037.3_Missense_Mutation_p.R9L|NDUFB5_ENST00000472629.1_Missense_Mutation_p.R9L NM_001199957.1 NP_001186886.1 O43674 NDUB5_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa 9 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity p.R9P(1) endometrium(1)|lung(6)|skin(1) 8 all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18) NADH(DB00157) TTGTTGCGGCGGGTTTCGGTT 0.607000 9 37 0.00621372 0.00646351 1 1 0 ABCA1 19 broad.mit.edu 37 9 107580989 107580989 + Silent SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr9:107580989G>A ENST00000374736.3 - 23 3811 c.3417C>T c.(3415-3417)ctC>ctT p.L1139L NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 1139 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TGCAGGAACTGAGGGAGGATT 0.537000 6 84 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56420230 56420230 + Missense_Mutation SNP G G T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr6:56420230G>T ENST00000370754.5 - 60 14955 c.14956C>A c.(14956-14958)Ctg>Atg p.L4986M DST_ENST00000421834.2_Missense_Mutation_p.L2720M|DST_ENST00000361203.3_Missense_Mutation_p.L4806M|DST_ENST00000446842.2_Missense_Mutation_p.L4482M|DST_ENST00000370788.2_Missense_Mutation_p.L2720M|DST_ENST00000370769.4_Missense_Mutation_p.L4808M|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.L2394M Q03001 DYST_HUMAN dystonin 4806 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TCTTTAACCAGTGCTGACAAA 0.408000 33 70 4.11147e-13 4.60041e-13 1 1 0 RGS7 6000 broad.mit.edu 37 1 240966262 240966262 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr1:240966262G>A ENST00000366565.1 - 16 1682 c.1301C>T c.(1300-1302)tCa>tTa p.S434L RGS7_ENST00000446183.2_Missense_Mutation_p.S350L|RGS7_ENST00000407727.1_Missense_Mutation_p.S434L|RGS7_ENST00000331110.7_Missense_Mutation_p.S408L|RGS7_ENST00000348120.2_Missense_Mutation_p.S381L|RGS7_ENST00000366563.1_Missense_Mutation_p.S434L|RGS7_ENST00000401882.1_Missense_Mutation_p.S381L|RGS7_ENST00000366564.1_Missense_Mutation_p.S434L|RGS7_ENST00000366562.4_Missense_Mutation_p.S434L NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 434 RGS. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) ACGTGGGTATGAATCACTTTT 0.358000 23 94 0 0 1 0 0 NFATC3 4775 broad.mit.edu 37 16 68255131 68255131 + Nonsense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr16:68255131C>T ENST00000349223.5 + 10 3363 c.3139C>T c.(3139-3141)Cag>Tag p.Q1047* NFATC3_ENST00000329524.4_Intron|RP11-96D1.5_ENST00000569088.1_RNA|NFATC3_ENST00000535127.2_Intron|NFATC3_ENST00000346183.3_Intron NM_173163.2 NP_775186.1 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 0 inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 44 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) TGACTTGCTTCAGTTGAGACC 0.403000 21 61 0 0 1 0 0 C1orf94 84970 broad.mit.edu 37 1 34663196 34663196 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr1:34663196G>A ENST00000488417.1 + 2 811 c.691G>A c.(691-693)Gac>Aac p.D231N C1orf94_ENST00000373374.3_Missense_Mutation_p.D41N NM_001134734.1 NP_001128206.1 Q6P1W5 CA094_HUMAN chromosome 1 open reading frame 94 41 protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) CATCCTAGGTGACTCCAACTT 0.542000 14 35 0 0 1 0 0 CCDC101 112869 broad.mit.edu 37 16 28602255 28602255 + Splice_Site SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr16:28602255G>A ENST00000317058.3 + 9 951 c.764G>A c.(763-765)cGg>cAg p.R255Q NM_138414.2 NP_612423.1 Q96ES7 SGF29_HUMAN coiled-coil domain containing 101 255 SGF29 C-terminal. establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex methylated histone residue binding central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 10 CCCCCACAGCGGGTAAAGCAG 0.617000 3 13 0 0 1 0 0 CXorf66 347487 broad.mit.edu 37 X 139038603 139038603 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chrX:139038603C>T ENST00000370540.1 - 3 561 c.538G>A c.(538-540)Gaa>Aaa p.E180K NM_001013403.2 NP_001013421.1 Q5JRM2 CX066_HUMAN chromosome X open reading frame 66 180 integral to membrane breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1) 26 TGTGCCTTTTCCAGGTGAGAT 0.413000 65 149 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19571845 19571845 + Missense_Mutation SNP C C G TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr5:19571845C>G ENST00000507958.1 - 10 2086 c.1096G>C c.(1096-1098)Gat>Cat p.D366H CDH18_ENST00000274170.4_Missense_Mutation_p.D366H|CDH18_ENST00000506372.1_Missense_Mutation_p.D366H|CDH18_ENST00000382275.1_Missense_Mutation_p.D366H|CDH18_ENST00000511273.1_Missense_Mutation_p.D366H|CDH18_ENST00000502796.1_Missense_Mutation_p.D366H Q13634 CAD18_HUMAN cadherin 18, type 2 366 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) ATAGTAGCATCTTTAAAAGGA 0.403000 19 55 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56391242 56391242 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr6:56391242C>T ENST00000370754.5 - 69 17952 c.17953G>A c.(17953-17955)Gac>Aac p.D5985N DST_ENST00000421834.2_Missense_Mutation_p.D3719N|DST_ENST00000361203.3_Missense_Mutation_p.D5696N|DST_ENST00000340834.4_5'UTR|DST_ENST00000446842.2_Missense_Mutation_p.D5481N|DST_ENST00000370788.2_Missense_Mutation_p.D3610N|DST_ENST00000370769.4_Missense_Mutation_p.D5807N|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.D3393N Q03001 DYST_HUMAN dystonin 5805 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CGCTCATTGTCCTCAGCTACC 0.493000 35 127 0 0 1 0 0 CHD3 1107 broad.mit.edu 37 17 7808955 7808955 + Missense_Mutation SNP G G C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr17:7808955G>C ENST00000380358.4 + 27 4333 c.4332G>C c.(4330-4332)aaG>aaC p.K1444N CHD3_ENST00000330494.7_Missense_Mutation_p.K1385N|CHD3_ENST00000358181.4_Missense_Mutation_p.K1385N NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 1385 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) GACAGTCAAAGAGGCAGCTCC 0.567000 6 16 0 0 1 0 0 LAMC1 3915 broad.mit.edu 37 1 183087279 183087279 + Missense_Mutation SNP G G C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr1:183087279G>C ENST00000258341.4 + 11 2245 c.1988G>C c.(1987-1989)aGa>aCa p.R663T NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 663 Laminin IV type A. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent p.R663I(1) NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TACAGTGAGAGAAGTAAGTTA 0.353000 11 41 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113149637 113149637 + Missense_Mutation SNP T T C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr9:113149637T>C ENST00000401783.2 - 42 10324 c.9988A>G c.(9988-9990)Agt>Ggt p.S3330G SVEP1_ENST00000374469.1_Missense_Mutation_p.S3307G|SVEP1_ENST00000297826.5_Missense_Mutation_p.S1256G NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 3330 Sushi 32. 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 CCTTCAAGACTGTAGCCTCTG 0.483000 19 50 0 0 1 0 0 MTF2 22823 broad.mit.edu 37 1 93581036 93581036 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr1:93581036G>A ENST00000370298.4 + 6 782 c.493G>A c.(493-495)Gca>Aca p.A165T MTF2_ENST00000370303.4_Missense_Mutation_p.A165T|MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000545708.1_Missense_Mutation_p.A63T|MTF2_ENST00000540243.1_Missense_Mutation_p.A63T NM_001164392.1|NM_007358.3 NP_001157864.1|NP_031384 Q9Y483 MTF2_HUMAN metal response element binding transcription factor 2 165 nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886) GAGGGGTGGTGCACTTAAGAA 0.393000 11 33 0 0 1 0 0 ZNF419 79744 broad.mit.edu 37 19 58005153 58005153 + Nonsense_Mutation SNP G G T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr19:58005153G>T ENST00000424930.2 + 5 1460 c.1231G>T c.(1231-1233)Gag>Tag p.E411* AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000221735.7_Nonsense_Mutation_p.E410*|ZNF419_ENST00000347466.6_Nonsense_Mutation_p.E378*|ZNF419_ENST00000415379.2_Nonsense_Mutation_p.E364*|ZNF419_ENST00000442920.2_Nonsense_Mutation_p.E397*|ZNF419_ENST00000426954.2_Nonsense_Mutation_p.E398*|ZNF419_ENST00000354197.4_Splice_Site NM_001098491.1|NM_024691.3 NP_001091961.1|NP_078967.3 Q96HQ0 ZN419_HUMAN zinc finger protein 419 410 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171) ATTCTTTAGAGAGAATTCCAC 0.418000 24 120 9.57634e-11 1.03785e-10 1 1 0 GRM2 2912 broad.mit.edu 37 3 51747292 51747292 + Silent SNP C C G TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr3:51747292C>G ENST00000395052.3 + 3 1488 c.1254C>G c.(1252-1254)ctC>ctG p.L418L GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Silent_p.L418L NM_000839.3 NP_000830.2 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 418 synaptic transmission integral to plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) GGCGCCGCCTCTACAAGGACT 0.587000 9 19 0 0 1 0 0 ADRA1A 148 broad.mit.edu 37 8 26628136 26628136 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr8:26628136C>T ENST00000380573.3 - 3 1954 c.931G>A c.(931-933)Gta>Ata p.V311I ADRA1A_ENST00000354550.4_Missense_Mutation_p.V311I|ADRA1A_ENST00000380582.3_Missense_Mutation_p.V311I|ADRA1A_ENST00000519229.1_Missense_Mutation_p.V311I|ADRA1A_ENST00000276393.4_Missense_Mutation_p.V311I|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380586.1_Missense_Mutation_p.V311I P35348 ADA1A_HUMAN adrenoceptor alpha 1A 311 activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity p.V311I(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1) 36 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) AGCCAAAATACTATTTTAAAA 0.393000 19 62 0 0 1 0 0 ZBTB22 9278 broad.mit.edu 37 6 33284496 33284496 + Silent SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr6:33284496C>T ENST00000431845.2 - 2 349 c.198G>A c.(196-198)cgG>cgA p.R66R ZBTB22_ENST00000418724.1_Silent_p.R66R NM_005453.4 NP_005444.4 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 66 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3) 21 CCCGGAACTCCCGGCCCTGCA 0.592000 48 70 0 0 1 0 0 ZMYND8 23613 broad.mit.edu 37 20 45905274 45905274 + Missense_Mutation SNP C C G TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr20:45905274C>G ENST00000311275.7 - 11 1457 c.1204G>C c.(1204-1206)Gac>Cac p.D402H ZMYND8_ENST00000458360.2_Missense_Mutation_p.D397H|ZMYND8_ENST00000360911.3_Missense_Mutation_p.D397H|ZMYND8_ENST00000396281.4_Missense_Mutation_p.D402H|ZMYND8_ENST00000446994.2_Missense_Mutation_p.D339H|ZMYND8_ENST00000461685.1_Missense_Mutation_p.D422H|ZMYND8_ENST00000540497.1_Missense_Mutation_p.D397H|ZMYND8_ENST00000536340.1_Missense_Mutation_p.D429H|ZMYND8_ENST00000471951.2_Missense_Mutation_p.D422H|ZMYND8_ENST00000352431.2_Missense_Mutation_p.D422H|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000355972.4_Missense_Mutation_p.D402H|ZMYND8_ENST00000372023.3_Missense_Mutation_p.D397H|ZMYND8_ENST00000262975.4_Missense_Mutation_p.D402H NM_001281772.1|NM_001281778.1|NM_001281783.1 NP_001268701.1|NP_001268707.1|NP_001268712.1 Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 402 protein binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8) 62 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) GCCGTCATGTCAAAGTTGAGC 0.582000 40 133 0 0 1 0 0 PLEKHA8 84725 broad.mit.edu 37 7 30094400 30094400 + Nonsense_Mutation SNP C C G TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr7:30094400C>G ENST00000449726.1 + 8 1222 c.872C>G c.(871-873)tCa>tGa p.S291* PLEKHA8_ENST00000258679.7_Nonsense_Mutation_p.S291*|PLEKHA8_ENST00000396259.1_Nonsense_Mutation_p.S291*|PLEKHA8_ENST00000396257.2_Nonsense_Mutation_p.S291* NM_001197027.1 NP_001183956.1 Q96JA3 PKHA8_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 291 protein transport cytoplasm glycolipid binding|glycolipid transporter activity breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 17 CAGTCTGGATCAGACTCAAGT 0.388000 22 68 0 0 1 0 0 OR10S1 219873 broad.mit.edu 37 11 123848028 123848028 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr11:123848028G>A ENST00000531945.1 - 1 460 c.371C>T c.(370-372)aCt>aTt p.T124I NM_001004474.1 NP_001004474.1 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, member 1 124 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) GAAGCACTCAGTGCTGGCCAG 0.542000 8 23 0 0 1 0 0 HSP90AA1 3320 broad.mit.edu 37 14 102550835 102550835 + Missense_Mutation SNP C C G TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr14:102550835C>G ENST00000334701.7 - 7 1695 c.1414G>C c.(1414-1416)Gat>Cat p.D472H HSP90AA1_ENST00000441629.2_Missense_Mutation_p.D171H|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.D350H NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 350 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) TCAAACAGATCAAAAGGAGCA 0.373000 15 61 0 0 1 0 0 BRPF3 27154 broad.mit.edu 37 6 36168155 36168155 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr6:36168155C>T ENST00000357641.6 + 2 309 c.56C>T c.(55-57)tCc>tTc p.S19F BRPF3_ENST00000534400.1_Missense_Mutation_p.S19F|BRPF3_ENST00000339717.7_Missense_Mutation_p.S19F|BRPF3_ENST00000543502.1_Missense_Mutation_p.S19F|BRPF3_ENST00000534694.1_Missense_Mutation_p.S19F|BRPF3_ENST00000443324.2_Missense_Mutation_p.S19F NM_015695.2 NP_056510.2 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 19 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 CGTTCCCCGTCCCCCTACAGT 0.627000 6 75 0 0 1 0 0 TBC1D3P5 440419 broad.mit.edu 37 17 25753587 25753587 + RNA SNP C C T rs1993829 by1000genomes TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr17:25753587C>T ENST00000586223.1 + 0 1595 NR_033892.1 TTCAGAGGAGCAAGTCCACGT 0.552000 5 50 0 0 1 0 0 NTRK1 4914 broad.mit.edu 37 1 156844786 156844786 + Missense_Mutation SNP A A T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr1:156844786A>T ENST00000368196.3 + 10 1442 c.1322A>T c.(1321-1323)aAg>aTg p.K441M NTRK1_ENST00000358660.3_Missense_Mutation_p.K441M|NTRK1_ENST00000524377.1_Missense_Mutation_p.K447M|NTRK1_ENST00000392302.2_Missense_Mutation_p.K411M NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 447 activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) CGGAGAAACAAGTTTGGGATC 0.577000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 36 155 0 0 1 0 0 IGHV4-28 28400 broad.mit.edu 37 14 106780963 106780963 + RNA SNP C C G TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr14:106780963C>G ENST00000390612.2 - 0 54 CACAGGAGGTCCAGGACTCTC 0.498000 5 47 0 0 1 0 0 GIMAP8 155038 broad.mit.edu 37 7 150171609 150171609 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr7:150171609G>A ENST00000307271.3 + 4 1766 c.1192G>A c.(1192-1194)Gcc>Acc p.A398T NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 398 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) CAGATATAGTGCCTTCAACTA 0.443000 24 110 0 0 1 0 0 SERPINA12 145264 broad.mit.edu 37 14 94964104 94964104 + Missense_Mutation SNP G G C rs61757459 byFrequency TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr14:94964104G>C ENST00000341228.2 - 3 1426 c.631C>G c.(631-633)Cga>Gga p.R211G SERPINA12_ENST00000556881.1_Missense_Mutation_p.R211G NM_173850.2 NP_776249.1 Q8IW75 SPA12_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 211 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(157;0.235) GCCTTACCTCGAAAGAAAATA 0.408000 19 64 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 5 23 0.184627 0.184627 1 1 0 PSG1 5669 broad.mit.edu 37 19 43376193 43376193 + Missense_Mutation SNP C C G TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr19:43376193C>G ENST00000244296.2 - 3 572 c.435G>C c.(433-435)gaG>gaC p.E145D PSG1_ENST00000595356.1_Missense_Mutation_p.E145D|PSG1_ENST00000312439.6_Missense_Mutation_p.E145D|PSG1_ENST00000595124.1_Intron|PSG1_ENST00000436291.2_Missense_Mutation_p.E145D|PSG1_ENST00000403380.3_Intron NM_006905.2 NP_008836.2 pregnancy specific beta-1-glycoprotein 1 breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 Prostate(69;0.00682) GCTTAGGAGTCTCCACTGTGC 0.522000 28 330 0 0 1 0 0 F2RL1 2150 broad.mit.edu 37 5 76128611 76128611 + Missense_Mutation SNP C C G TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr5:76128611C>G ENST00000296677.4 + 2 385 c.179C>G c.(178-180)tCt>tGt p.S60C NM_005242.4 NP_005233 P55085 PAR2_HUMAN coagulation factor II (thrombin) receptor-like 1 60 blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation Golgi apparatus|integral to plasma membrane receptor binding|thrombin receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 13 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41) ACAGTCTTTTCTGTGGATGAG 0.438000 32 71 0 0 1 0 0 BRD4 23476 broad.mit.edu 37 19 15366963 15366963 + Nonsense_Mutation SNP C C A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr19:15366963C>A ENST00000263377.2 - 9 1884 c.1663G>T c.(1663-1665)Gag>Tag p.E555* BRD4_ENST00000360016.5_Nonsense_Mutation_p.E555*|BRD4_ENST00000602230.1_5'UTR|BRD4_ENST00000371835.4_Nonsense_Mutation_p.E555* NM_058243.2 NP_490597.1 O60885 BRD4_HUMAN bromodomain containing 4 555 Lys-rich. interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) tccacttcctctttccttttg 0.433000 T C15orf55 lethal midline carcinoma of young people 7 41 0.0293803 0.0301076 1 1 0 PIGF 5281 broad.mit.edu 37 2 46842192 46842192 + Missense_Mutation SNP C C G TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr2:46842192C>G ENST00000281382.6 - 2 282 c.112G>C c.(112-114)Gaa>Caa p.E38Q PIGF_ENST00000495933.1_5'UTR|PIGF_ENST00000306465.4_Missense_Mutation_p.E38Q NM_002643.3 NP_002634.1 Q07326 PIGF_HUMAN phosphatidylinositol glycan anchor biosynthesis, class F 38 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane ethanolaminephosphotransferase activity breast(1)|endometrium(1)|lung(1)|stomach(1) 4 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) AAGTGTGTTTCCAATATTGAG 0.348000 20 118 0 0 1 0 0 RETSAT 54884 broad.mit.edu 37 2 85570773 85570773 + Missense_Mutation SNP A A T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr2:85570773A>T ENST00000295802.4 - 10 1794 c.1682T>A c.(1681-1683)cTc>cAc p.L561H RETSAT_ENST00000457495.2_Missense_Mutation_p.L500H|RETSAT_ENST00000263854.6_3'UTR NM_017750.3 NP_060220.3 Q6NUM9 RETST_HUMAN retinol saturase (all-trans-retinol 13,14-reductase) 561 retinol metabolic process endoplasmic reticulum membrane|nuclear outer membrane all-trans-retinol 13,14-reductase activity|electron carrier activity NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 30 Vitamin A(DB00162) TGTCAGATAGAGGTTGGGGAT 0.647000 21 36 0 0 1 0 0 KCNN2 3781 broad.mit.edu 37 5 113698511 113698511 + Silent SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr5:113698511G>A ENST00000512097.3 + 2 1057 c.39G>A c.(37-39)ccG>ccA p.P13P KCNN2_ENST00000264773.3_Silent_p.P13P Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 13 integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) TCATGCGGCCGCTCAGCAACT 0.697000 8 6 0 0 1 0 0 NFATC1 4772 broad.mit.edu 37 18 77170646 77170646 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr18:77170646C>T ENST00000253506.5 + 2 740 c.371C>T c.(370-372)tCg>tTg p.S124L NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000586434.1_Missense_Mutation_p.S111L|NFATC1_ENST00000592223.1_Missense_Mutation_p.S111L|NFATC1_ENST00000318065.5_Missense_Mutation_p.S111L|NFATC1_ENST00000587635.1_Missense_Mutation_p.S124L|NFATC1_ENST00000542384.1_Missense_Mutation_p.S124L|NFATC1_ENST00000591814.1_Missense_Mutation_p.S124L|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000427363.2_Missense_Mutation_p.S124L|NFATC1_ENST00000329101.4_Missense_Mutation_p.S111L NM_006162.3 NP_006153.2 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 124 intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) GAGATAACCTCGTGCTTGGGC 0.627000 9 50 0 0 1 0 0 RANBP3 8498 broad.mit.edu 37 19 5931433 5931433 + Missense_Mutation SNP A A T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr19:5931433A>T ENST00000340578.6 - 8 732 c.675T>A c.(673-675)gaT>gaA p.D225E RANBP3_ENST00000591092.1_Missense_Mutation_p.D157E|RANBP3_ENST00000439268.2_Missense_Mutation_p.D225E|RANBP3_ENST00000541471.1_Missense_Mutation_p.D97E|RANBP3_ENST00000034275.8_Missense_Mutation_p.D157E NM_003624.2|NM_007320.2|NM_007322.2 NP_003615.2|NP_015559.2|NP_015561.1 Q9H6Z4 RANB3_HUMAN RAN binding protein 3 225 intracellular transport|protein transport cytoplasm|nucleus Ran GTPase binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 18 CACACACCTCATCGGCAGCTT 0.652000 20 27 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175355234 175355234 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr1:175355234C>T ENST00000367674.2 - 8 2419 c.1711G>A c.(1711-1713)Gag>Aag p.E571K TNR_ENST00000263525.2_Missense_Mutation_p.E571K Q92752 TENR_HUMAN tenascin R Fibronectin type-III 3. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) ACTGACACCTCGTATCGGGAG 0.637000 14 206 0 0 1 0 0 ZCCHC9 84240 broad.mit.edu 37 5 80600669 80600669 + Silent SNP A A C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr5:80600669A>C ENST00000254037.2 + 1 3248 c.93A>C c.(91-93)ggA>ggC p.G31G ZCCHC9_ENST00000438268.2_Silent_p.G31G|ZCCHC9_ENST00000407610.3_Silent_p.G31G|ZCCHC9_ENST00000506458.1_Intron|ZCCHC9_ENST00000380199.5_Silent_p.G31G Q8N567 ZCHC9_HUMAN zinc finger, CCHC domain containing 9 31 nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1) 13 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34) CCTTTGAGGGAACAAGCCAAA 0.423000 22 50 0 0 1 0 0 CADPS2 93664 broad.mit.edu 37 7 122261661 122261661 + Silent SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr7:122261661C>T ENST00000334010.7 - 5 1399 c.978G>A c.(976-978)tcG>tcA p.S326S CADPS2_ENST00000412584.2_Silent_p.S326S|CADPS2_ENST00000313070.7_Silent_p.S326S|CADPS2_ENST00000449022.2_Silent_p.S326S NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 326 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding p.S326S(1) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 GACCACCTTTCGAAACTGGAA 0.368000 17 69 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50976988 50976988 + Silent SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr18:50976988C>T ENST00000442544.2 + 23 3964 c.3348C>T c.(3346-3348)atC>atT p.I1116I DCC_ENST00000581580.1_Silent_p.I751I NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1116 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TAGTGGTCATCGTGGCTGTGA 0.512000 9 28 0 0 1 0 0 IL10RA 3587 broad.mit.edu 37 11 117864081 117864081 + Nonsense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr11:117864081C>T ENST00000227752.3 + 4 613 c.493C>T c.(493-495)Cga>Tga p.R165* IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000541785.1_Nonsense_Mutation_p.R145*|IL10RA_ENST00000545409.1_Nonsense_Mutation_p.R16* NM_001558.3 NP_001549.2 Q13651 I10R1_HUMAN interleukin 10 receptor, alpha 165 integral to membrane|plasma membrane interleukin-10 receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108) CAGTCACTTCCGAGAGTATGA 0.557000 13 56 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348739 197348739 + RNA SNP G G C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr3:197348739G>C ENST00000418868.1 - 0 520 NR_003266.2 TAATTTTCTAGCTGTGAAAGA 0.398000 5 121 0 0 1 0 0 GNAI3 2773 broad.mit.edu 37 1 110128959 110128959 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr1:110128959G>A ENST00000369851.4 + 6 822 c.712G>A c.(712-714)Gag>Aag p.E238K NM_006496.3 NP_006487.1 P08754 GNAI3_HUMAN guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 238 cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237) GGCTGAGGACGAGGAGATGGT 0.413000 41 112 0 0 1 0 0 TRPA1 8989 broad.mit.edu 37 8 72946563 72946563 + Missense_Mutation SNP T T A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr8:72946563T>A ENST00000262209.4 - 22 2812 c.2605A>T c.(2605-2607)Act>Tct p.T869S RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|TRPA1_ENST00000519720.1_5'UTR NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 869 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) CTCAACAAAGTTTTCAAAATT 0.294000 14 53 0 0 1 0 0 ZNF35 7584 broad.mit.edu 37 3 44692638 44692638 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr3:44692638G>A ENST00000396056.2 + 2 314 c.79G>A c.(79-81)Gaa>Aaa p.E27K RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000296092.3_Missense_Mutation_p.E27K|ZNF35_ENST00000542250.1_5'UTR|ZNF35_ENST00000399560.2_Missense_Mutation_p.E27K|ZNF35_ENST00000453164.1_Missense_Mutation_p.E27K NM_003420.3 NP_003411.3 P13682 ZNF35_HUMAN zinc finger protein 35 27 Globular domain.|Poly-Glu. cellular response to retinoic acid|spermatogenesis nucleus|perinuclear region of cytoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 12 Ovarian(412;0.0228) OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) GGAAGAAGAAGAAAACTTCCC 0.542000 10 55 0 0 1 0 0 HACL1 26061 broad.mit.edu 37 3 15621475 15621475 + Missense_Mutation SNP T T C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr3:15621475T>C ENST00000321169.5 - 9 1112 c.745A>G c.(745-747)Atg>Gtg p.M249V HACL1_ENST00000456194.2_Missense_Mutation_p.M222V|HACL1_ENST00000457447.2_Missense_Mutation_p.M223V|HACL1_ENST00000451445.2_Missense_Mutation_p.M167V|HACL1_ENST00000435217.2_Intron NM_012260.2 NP_036392.2 Q9UJ83 HACL1_HUMAN 2-hydroxyacyl-CoA lyase 1 249 fatty acid alpha-oxidation peroxisomal matrix carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1) 16 CCCTTCCCCATAGGGGTGGGC 0.443000 36 55 0 0 1 0 0 PCDH11Y 83259 broad.mit.edu 37 Y 4968004 4968004 + Silent SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chrY:4968004C>T ENST00000333703.4 + 5 2865 c.2352C>T c.(2350-2352)ttC>ttT p.F784F PCDH11Y_ENST00000215473.6_Silent_p.F795F|PCDH11Y_ENST00000362095.5_Silent_p.F795F NM_001278619.1|NM_032971.2 NP_001265548.1|NP_116753.1 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked 795 Cadherin 7. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 ATTCTCTCTTCAGTGTTGTAA 0.423000 8 130 0 0 1 0 0 PDE11A 50940 broad.mit.edu 37 2 178936981 178936981 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr2:178936981C>T ENST00000286063.6 - 1 501 c.184G>A c.(184-186)Gct>Act p.A62T PDE11A_ENST00000358450.4_Intron NM_016953.3 NP_058649.3 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) GTGCTGTGAGCCAAGCTGCTG 0.627000 Primary Pigmented Nodular Adrenocortical Disease, Familial 9 16 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32633772 32633772 + Silent SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr9:32633772G>A ENST00000242310.4 - 1 1895 c.1806C>T c.(1804-1806)acC>acT p.T602T RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 602 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TCCCTCCAAAGGTGCCCCGAA 0.483000 55 126 0 0 1 0 0 RGS12 6002 broad.mit.edu 37 4 3319746 3319746 + Nonsense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr4:3319746C>T ENST00000336727.3 + 2 2753 c.1849C>T c.(1849-1851)Cga>Tga p.R617* RGS12_ENST00000344733.5_Nonsense_Mutation_p.R617*|RGS12_ENST00000382788.3_Nonsense_Mutation_p.R617*|RGS12_ENST00000543385.1_Nonsense_Mutation_p.R617* NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 617 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TGGTCCCCATCGAAATGTTCG 0.582000 27 107 0 0 1 0 0 FBXL17 64839 broad.mit.edu 37 5 107559915 107559915 + Silent SNP T T C rs112049764 byFrequency TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr5:107559915T>C ENST00000542267.1 - 5 1927 c.1521A>G c.(1519-1521)tcA>tcG p.S507S FBXL17_ENST00000496714.1_Silent_p.S109S|FBXL17_ENST00000359660.5_Silent_p.S109S NM_001163315.2 NP_001156787.2 Q9UF56 FXL17_HUMAN F-box and leucine-rich repeat protein 17 507 endometrium(1)|large_intestine(4)|lung(1) 6 all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232) OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10) ATGCTTTCACTGACTGATCTG 0.433000 3 36 0 0 1 0 0 HHIP 64399 broad.mit.edu 37 4 145635380 145635380 + Missense_Mutation SNP G G A rs147064425 TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr4:145635380G>A ENST00000296575.3 + 9 2082 c.1427G>A c.(1426-1428)aGt>aAt p.S476N NM_022475.2 NP_071920.1 Q96QV1 HHIP_HUMAN hedgehog interacting protein 476 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) TTTCCAGAAAGTGAGCCATCA 0.353000 10 34 0 0 1 0 0 REXO1 57455 broad.mit.edu 37 19 1828181 1828181 + Missense_Mutation SNP G G T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr19:1828181G>T ENST00000170168.4 - 2 701 c.607C>A c.(607-609)Ccc>Acc p.P203T REXO1_ENST00000587524.1_5'UTR NM_020695.3 NP_065746.3 Q8N1G1 REXO1_HUMAN REX1, RNA exonuclease 1 homolog (S. cerevisiae) 203 nucleus exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 16 Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACAGCCTTGGGGACGTATTCC 0.692000 5 22 0.184627 0.184627 1 1 0 GALNT15 117248 broad.mit.edu 37 3 16268952 16268952 + Missense_Mutation SNP G G T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr3:16268952G>T ENST00000339732.5 + 10 2368 c.1865G>T c.(1864-1866)gGa>gTa p.G622V GALNT15_ENST00000437509.1_Intron NM_054110.4 NP_473451.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 CCGTGTGATGGAAAAGCCCGC 0.428000 19 30 1.10513e-12 1.22991e-12 1 1 0 CAMTA1 23261 broad.mit.edu 37 1 7724545 7724545 + Silent SNP G G A rs142993717 TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr1:7724545G>A ENST00000303635.7 + 9 2145 c.1938G>A c.(1936-1938)acG>acA p.T646T CAMTA1_ENST00000439411.2_Silent_p.T646T NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 646 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) TGATGCCCACGGTGAAAACGG 0.637000 T WWTR1 epitheliod hemangioendothelioma 33 161 0 0 1 0 0 LDLRAD4 753 broad.mit.edu 37 18 13645279 13645279 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr18:13645279C>T ENST00000361205.4 + 7 1212 c.544C>T c.(544-546)Cct>Tct p.P182S LDLRAD4_ENST00000587757.1_Missense_Mutation_p.P145S|LDLRAD4_ENST00000359446.5_Missense_Mutation_p.P182S|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.P127S|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.P84S|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.P164S|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.P105S NM_001276249.1|NM_181481.3 NP_001263178.1|NP_852146.1 low density lipoprotein receptor class A domain containing 4 AGAGCCACCTCCTTACCAGGG 0.607000 23 225 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 71054178 71054178 + Missense_Mutation SNP T T C rs117718337 TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr16:71054178T>C ENST00000393567.2 - 22 3379 c.3229A>G c.(3229-3231)Ata>Gta p.I1077V HYDIN_ENST00000448089.2_Missense_Mutation_p.I1029V NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 1077 I -> V (in dbSNP:rs6416709). p.I1077V(3)|p.I1029V(3) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) ATGTTCTTTATGGCCAAGGGC 0.418000 4 52 0 0 1 0 0 COG6 57511 broad.mit.edu 37 13 40293396 40293396 + Silent SNP T T G rs61754105 byFrequency TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr13:40293396T>G ENST00000416691.1 + 14 1408 c.1308T>G c.(1306-1308)ctT>ctG p.L436L COG6_ENST00000455146.3_Silent_p.L436L NM_001145079.1 NP_001138551.1 Q9Y2V7 COG6_HUMAN component of oligomeric golgi complex 6 436 protein transport Golgi membrane|Golgi transport complex NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1) 13 Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168) CACCTGATCTTGGACCAAGTT 0.368000 4 69 0 0 1 0 0 SEC16B 89866 broad.mit.edu 37 1 177927476 177927476 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr1:177927476C>T ENST00000308284.6 - 10 1245 c.1156G>A c.(1156-1158)Gct>Act p.A386T SEC16B_ENST00000464631.2_Missense_Mutation_p.A387T|RP4-798P15.3_ENST00000354921.3_RNA NM_033127.2 NP_149118.2 Q96JE7 SC16B_HUMAN SEC16 homolog B (S. cerevisiae) 386 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 AGCAGCTCAGCGATGTCAGAC 0.572000 9 100 0 0 1 0 0 PALD1 27143 broad.mit.edu 37 10 72300920 72300920 + Silent SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr10:72300920C>T ENST00000263563.6 + 16 2239 c.1971C>T c.(1969-1971)ttC>ttT p.F657F NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 GCACTGGCTTCGTGTTCAGCT 0.632000 13 49 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88965564 88965564 + Missense_Mutation SNP G G C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr7:88965564G>C ENST00000333190.4 + 4 3877 c.3268G>C c.(3268-3270)Gag>Cag p.E1090Q NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1090 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TGATTCAACAGAGACCCAAGA 0.363000 HNSCC(36;0.09) 18 49 0 0 1 0 0 NELFA 7469 broad.mit.edu 37 4 1985773 1985773 + Silent SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr4:1985773C>T ENST00000382882.3 - 9 2254 c.1137G>A c.(1135-1137)gcG>gcA p.A379A NELFA_ENST00000411638.2_Silent_p.A368A|NELFA_ENST00000542778.1_Silent_p.A233A negative elongation factor complex member A GCTTGAACTGCGCTGGCAACG 0.716000 4 14 0 0 1 0 0 PLXNA2 5362 broad.mit.edu 37 1 208234158 208234158 + Nonsense_Mutation SNP C C A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr1:208234158C>A ENST00000367033.3 - 13 3368 c.2611G>T c.(2611-2613)Gaa>Taa p.E871* NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 871 IPT/TIG 1. axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) GTCCCTCCTTCCGGCGGTCCA 0.602000 18 29 0.00887093 0.00918141 1 1 0 SH3GL1 6455 broad.mit.edu 37 19 4362650 4362650 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr19:4362650G>A ENST00000269886.3 - 8 990 c.812C>T c.(811-813)tCc>tTc p.S271F SH3GL1_ENST00000598564.1_Missense_Mutation_p.S207F|SH3GL1_ENST00000417295.2_Missense_Mutation_p.S223F NM_003025.3 NP_003016.1 Q99961 SH3G1_HUMAN SH3-domain GRB2-like 1 271 central nervous system development|endocytosis|signal transduction early endosome membrane lipid binding|protein binding NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182) GCCCCCGTTGGACTGCTCAGG 0.642000 T MLL AL 16 54 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46243818 46243818 + Splice_Site SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr12:46243818G>A ENST00000334344.6 + 15 2084 c.e15-1 ARID2_ENST00000479608.1_Splice_Site|ARID2_ENST00000444670.1_Splice_Site|ARID2_ENST00000422737.1_Splice_Site NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) CATATTTTCAGGAATCCCTCA 0.333000 """N, S, F""" hepatocellular carcinoma 33 53 0 0 1 0 0 ERP29 10961 broad.mit.edu 37 12 112451286 112451286 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr12:112451286C>T ENST00000261735.3 + 1 167 c.17C>T c.(16-18)cCc>cTc p.P6L ERP29_ENST00000455836.1_Missense_Mutation_p.P6L NM_006817.3 NP_006808.1 P30040 ERP29_HUMAN endoplasmic reticulum protein 29 6 intracellular protein transport|protein folding|protein secretion endoplasmic reticulum lumen|melanosome protein disulfide isomerase activity cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 5 GCCGCTGTGCCCCGCGCCGCA 0.682000 14 58 0 0 1 0 0 EPS8 2059 broad.mit.edu 37 12 15807190 15807190 + Nonsense_Mutation SNP G G T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr12:15807190G>T ENST00000281172.5 - 13 1575 c.1139C>A c.(1138-1140)tCa>tAa p.S380* EPS8_ENST00000540613.1_Nonsense_Mutation_p.S120*|EPS8_ENST00000543612.1_Nonsense_Mutation_p.S380*|EPS8_ENST00000542903.1_Nonsense_Mutation_p.S120*|EPS8_ENST00000543523.1_Nonsense_Mutation_p.S380* NM_004447.5 NP_004438.3 Q12929 EPS8_HUMAN epidermal growth factor receptor pathway substrate 8 380 cell proliferation|epidermal growth factor receptor signaling pathway SH3/SH2 adaptor activity NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244) BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264) ACTAAGTACTGAACTGGCTAG 0.383000 15 68 2.61681e-11 2.86604e-11 1 1 0 FGFR3 2261 broad.mit.edu 37 4 1803704 1803704 + Silent SNP T T C rs2234909 byFrequency TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr4:1803704T>C ENST00000340107.4 + 7 1138 c.882T>C c.(880-882)aaT>aaC p.N294N FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Silent_p.N294N|FGFR3_ENST00000352904.1_Silent_p.N294N|FGFR3_ENST00000440486.2_Silent_p.N294N|FGFR3_ENST00000260795.2_Silent_p.N294N|FGFR3_ENST00000412135.2_Silent_p.N294N NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 294 Ig-like C2-type 3. 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.N294N(5) 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) TGGAGGTGAATGGCAGCAAGG 0.672000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 6 23 0 0 1 0 0 PARD6A 50855 broad.mit.edu 37 16 67695381 67695381 + Missense_Mutation SNP C C A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr16:67695381C>A ENST00000458121.2 + 2 178 c.87C>A c.(85-87)ttC>ttA p.F29L PARD6A_ENST00000219255.3_Missense_Mutation_p.F29L|PARD6A_ENST00000602551.1_Missense_Mutation_p.F29L NM_001037281.1|NM_016948.2 NP_001032358.1|NP_058644.1 Q9NPB6 PAR6A_HUMAN par-6 family cell polarity regulator alpha 29 Interaction with PRKCI and PRKCZ.|OPR. cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction cytosol|nucleus|ruffle|tight junction GTP-dependent protein binding|Rho GTPase binding|transcription factor binding central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2) 6 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) TCCGACGCTTCGCGCTGCCTC 0.662000 18 67 3.51602e-12 3.89206e-12 1 1 0 PPP1R13L 10848 broad.mit.edu 37 19 45895561 45895561 + Silent SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr19:45895561C>T ENST00000418234.2 - 8 1470 c.1392G>A c.(1390-1392)ccG>ccA p.P464P PPP1R13L_ENST00000360957.5_Silent_p.P464P NM_001142502.1 NP_001135974.1 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 like 464 Pro-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) CCTCTATCTCCGGCTCAGGCT 0.647000 13 82 0 0 1 0 0 PNPLA3 80339 broad.mit.edu 37 22 44333050 44333050 + Missense_Mutation SNP G G C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr22:44333050G>C ENST00000216180.3 + 6 1050 c.877G>C c.(877-879)Gct>Cct p.A293P PNPLA3_ENST00000423180.2_Missense_Mutation_p.A289P NM_025225.2 NP_079501.2 Q9NST1 PLPL3_HUMAN patatin-like phospholipase domain containing 3 293 triglyceride biosynthetic process|triglyceride catabolic process integral to membrane diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2) 19 Ovarian(80;0.024)|all_neural(38;0.0416) GGCTGCCTTGGCTGTGAGGCT 0.617000 10 29 0 0 1 0 0 CEP164 22897 broad.mit.edu 37 11 117266864 117266864 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr11:117266864C>T ENST00000278935.3 + 25 3331 c.3184C>T c.(3184-3186)Cat>Tat p.H1062Y CEP164_ENST00000533706.1_3'UTR NM_001271933.1|NM_014956.4 NP_001258862.1|NP_055771.4 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 1062 cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3) 47 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) GCCAGATCTCCATATTGAGGA 0.572000 29 110 0 0 1 0 0 XRN2 22803 broad.mit.edu 37 20 21321376 21321376 + Silent SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr20:21321376C>T ENST00000377191.3 + 15 1391 c.1296C>T c.(1294-1296)ttC>ttT p.F432F XRN2_ENST00000430571.2_Silent_p.F356F|XRN2_ENST00000539513.1_Silent_p.F378F NM_012255.3 NP_036387.2 Q9H0D6 XRN2_HUMAN 5'-3' exoribonuclease 2 432 cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5) 39 AACCAGCTTTCACTCCTAGTG 0.383000 5 106 0 0 1 0 0 KCNA4 3739 broad.mit.edu 37 11 30033452 30033452 + Missense_Mutation SNP G G C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr11:30033452G>C ENST00000328224.6 - 2 2007 c.774C>G c.(772-774)ttC>ttG p.F258L NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 258 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 CCAACTGATAGAACTTCACCT 0.507000 19 59 0 0 1 0 0 PIWIL1 9271 broad.mit.edu 37 12 130840202 130840202 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr12:130840202G>A ENST00000245255.3 + 12 1666 c.1394G>A c.(1393-1395)gGt>gAt p.G465D NM_001190971.1|NM_004764.4 NP_001177900.1|NP_004755.2 Q96J94 PIWL1_HUMAN piwi-like RNA-mediated gene silencing 1 465 gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 57 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) ATTCACCAAGGTGGAAAAACA 0.453000 10 106 0 0 1 0 0 DPP6 1804 broad.mit.edu 37 7 154595651 154595651 + Missense_Mutation SNP G G C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr7:154595651G>C ENST00000404039.1 + 14 1880 c.1293G>C c.(1291-1293)gaG>gaC p.E431D DPP6_ENST00000427557.1_Missense_Mutation_p.E388D|DPP6_ENST00000377770.3_Missense_Mutation_p.E495D|DPP6_ENST00000332007.3_Missense_Mutation_p.E433D NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 495 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) CCTACGATGAGAAGGGGAATA 0.502000 4 12 0 0 1 0 0 REXO4 57109 broad.mit.edu 37 9 136277903 136277903 + Silent SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr9:136277903G>A ENST00000371942.3 - 3 910 c.711C>T c.(709-711)ttC>ttT p.F237F REXO4_ENST00000478037.1_5'UTR|REXO4_ENST00000371935.2_Intron NM_020385.2 NP_065118.2 Q9GZR2 REXO4_HUMAN REX4, RNA exonuclease 4 homolog (S. cerevisiae) 237 nucleolus exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 15 OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05) CGTACCCGCCGAAGGCCTGCT 0.617000 12 24 0 0 1 0 0 MAST2 23139 broad.mit.edu 37 1 46495137 46495137 + Splice_Site SNP G G C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr1:46495137G>C ENST00000361297.2 + 19 2501 c.e19-1 MAST2_ENST00000372009.2_Splice_Site|MAST2_ENST00000477968.1_3'UTR NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) GATGACTTCAGATGAGATTGT 0.547000 3 38 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31326233 31326233 + Missense_Mutation SNP A A G TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr18:31326233A>G ENST00000269197.5 + 12 6421 c.6421A>G c.(6421-6423)Aaa>Gaa p.K2141E NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 2141 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 AGCTGCTCAGAAAATGCAGGT 0.408000 34 83 0 0 1 0 0 GPR133 283383 broad.mit.edu 37 12 131593323 131593323 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr12:131593323G>A ENST00000261654.5 + 18 2501 c.1942G>A c.(1942-1944)Gca>Aca p.A648T GPR133_ENST00000376682.4_Missense_Mutation_p.A334T|GPR133_ENST00000543617.1_Missense_Mutation_p.A167T|GPR133_ENST00000535015.1_Missense_Mutation_p.A680T NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 648 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.A648T(1) NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) GAGTGCCTTCGCATGGATGCT 0.567000 31 145 0 0 1 0 0 OR2T3 343173 broad.mit.edu 37 1 248637272 248637272 + Silent SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr1:248637272C>T ENST00000359594.2 + 1 646 c.621C>T c.(619-621)tgC>tgT p.C207C NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C207*(1) breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGTACCTGTGCTGCATCCTCA 0.537000 276 140 0 0 1 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151130805 151130805 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr6:151130805C>T ENST00000367328.1 + 11 1525 c.1213C>T c.(1213-1215)Cgc>Tgc p.R405C PLEKHG1_ENST00000358517.2_Missense_Mutation_p.R405C NM_001029884.1 NP_001025055.1 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 1 405 PH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) GCAAGACAAACGCCTCTGGGT 0.493000 15 27 0 0 1 0 0 UNC13A 23025 broad.mit.edu 37 19 17760337 17760337 + Missense_Mutation SNP A A G TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr19:17760337A>G ENST00000428389.2 - 14 1762 c.1763T>C c.(1762-1764)aTc>aCc p.I588T UNC13A_ENST00000551649.1_Missense_Mutation_p.I500T|UNC13A_ENST00000252773.7_Missense_Mutation_p.I500T|UNC13A_ENST00000550896.1_Missense_Mutation_p.I500T|UNC13A_ENST00000552293.1_Missense_Mutation_p.I500T|UNC13A_ENST00000519716.2_Missense_Mutation_p.I500T Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 500 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 CACGAGTGGGATAGGTTTCCT 0.572000 38 83 0 0 1 0 0 MOSPD2 158747 broad.mit.edu 37 X 14891876 14891876 + Silent SNP G G T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chrX:14891876G>T ENST00000380492.3 + 2 163 c.75G>T c.(73-75)gtG>gtT p.V25V MOSPD2_ENST00000482354.1_Silent_p.V25V|MOSPD2_ENST00000497603.2_Silent_p.V25V NM_001177475.1|NM_152581.3 NP_001170946.1|NP_689794.1 Q8NHP6 MSPD2_HUMAN motile sperm domain containing 2 25 integral to membrane structural molecule activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Hepatocellular(33;0.183) CTGAGTATGTGACAGGTGGGT 0.498000 4 62 0.00024832 0.000262256 1 1 0 PIGF 5281 broad.mit.edu 37 2 46840834 46840834 + Splice_Site SNP C C G TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr2:46840834C>G ENST00000281382.6 - 3 489 c.319G>C c.(319-321)Gag>Cag p.E107Q PIGF_ENST00000495933.1_5'UTR|PIGF_ENST00000306465.4_Splice_Site_p.E107Q NM_002643.3 NP_002634.1 Q07326 PIGF_HUMAN phosphatidylinositol glycan anchor biosynthesis, class F 107 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane ethanolaminephosphotransferase activity breast(1)|endometrium(1)|lung(1)|stomach(1) 4 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) CAAACTTACTCTATCAGTGGT 0.303000 4 15 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19497352 19497352 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr1:19497352C>T ENST00000375267.2 - 26 3550 c.3547G>A c.(3547-3549)Gaa>Aaa p.E1183K UBR4_ENST00000375254.3_Missense_Mutation_p.E1183K|UBR4_ENST00000375217.2_Missense_Mutation_p.E1183K|UBR4_ENST00000375226.2_Missense_Mutation_p.E1183K Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 1183 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GTTCCCTCTTCATTAAAGTTT 0.453000 48 49 0 0 1 0 0 YLPM1 56252 broad.mit.edu 37 14 75265975 75265975 + Silent SNP A A G TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr14:75265975A>G ENST00000325680.7 + 5 4099 c.3975A>G c.(3973-3975)gaA>gaG p.E1325E YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Silent_p.E1130E NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 1130 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) AGTTTCGTGAACGGGATATTC 0.443000 19 64 0 0 1 0 0 FAM86DP 692099 broad.mit.edu 37 3 75478362 75478362 + RNA SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr3:75478362C>T ENST00000459803.1 - 0 303 NR_024241.1 ACAGCTCGTCCAAAGCCTCCA 0.542000 3 39 0 0 1 0 0 PPIE 10450 broad.mit.edu 37 1 40214744 40214744 + Nonsense_Mutation SNP C C G TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr1:40214744C>G ENST00000470213.1 + 7 554 c.554C>G c.(553-555)tCa>tGa p.S185* PPIE_ENST00000372830.1_Silent_p.L226L|PPIE_ENST00000324379.5_Silent_p.L226L|PPIE_ENST00000356511.2_Silent_p.L226L Q9UNP9 PPIE_HUMAN peptidylprolyl isomerase E (cyclophilin E) 0 PPIase cyclophilin-type. protein folding|regulation of transcription, DNA-dependent catalytic step 2 spliceosome cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|RNA binding kidney(3)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1) 9 all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) ACTTTATCCTCAAGCATACGG 0.547000 16 70 0 0 1 0 0 ICAM5 7087 broad.mit.edu 37 19 10402336 10402336 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr19:10402336G>A ENST00000221980.4 + 3 587 c.524G>A c.(523-525)cGa>cAa p.R175Q ICAM5_ENST00000586004.1_3'UTR NM_003259.3 NP_003250.3 Q9UMF0 ICAM5_HUMAN intercellular adhesion molecule 5, telencephalin 175 Ig-like C2-type 2. cell-cell adhesion integral to plasma membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) GAACCACCCCGAGCGCGGGGC 0.731000 10 54 0 0 1 0 0 CASP8AP2 9994 broad.mit.edu 37 6 90573429 90573429 + RNA SNP T T A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr6:90573429T>A ENST00000551025.1 + 0 3438 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) TTGACAATACTATGCATTGTG 0.418000 20 11 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152551705 152551705 + Nonsense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr6:152551705G>A ENST00000367255.5 - 115 21773 c.21172C>T c.(21172-21174)Caa>Taa p.Q7058* SYNE1_ENST00000356820.4_Nonsense_Mutation_p.Q1582*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.Q6670*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.Q7058*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.Q6987*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.Q6987* NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7058 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AGTGCATTTTGAACAGAAGCC 0.388000 HNSCC(10;0.0054) 15 120 0 0 1 0 0 FZD3 7976 broad.mit.edu 37 8 28384671 28384671 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr8:28384671G>A ENST00000240093.3 + 5 872 c.394G>A c.(394-396)Gat>Aat p.D132N FZD3_ENST00000537916.1_Missense_Mutation_p.D132N NM_017412.3 NP_059108.1 Q9NPG1 FZD3_HUMAN frizzled family receptor 3 132 FZ. canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1) 41 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23) TAGGTTCCCAGATTGTGATGA 0.423000 26 81 0 0 1 0 0 TM7SF2 7108 broad.mit.edu 37 11 64882277 64882277 + Silent SNP C C G TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr11:64882277C>G ENST00000279263.7 + 6 858 c.696C>G c.(694-696)ctC>ctG p.L232L TM7SF2_ENST00000531029.1_3'UTR|TM7SF2_ENST00000540748.1_Silent_p.L116L|TM7SF2_ENST00000345348.5_Silent_p.L232L NM_003273.2 NP_003264.2 O76062 ERG24_HUMAN transmembrane 7 superfamily member 2 232 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane delta14-sterol reductase activity lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TCCAGTTGCTCTACGTGGGTG 0.607000 10 66 0 0 1 0 0 TDRD6 221400 broad.mit.edu 37 6 46660807 46660807 + Missense_Mutation SNP C C G TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr6:46660807C>G ENST00000544460.1 + 1 5196 c.4942C>G c.(4942-4944)Caa>Gaa p.Q1648E TDRD6_ENST00000316081.6_Missense_Mutation_p.Q1648E NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1648 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) ATTATGTTCTCAAGAGGGAAA 0.383000 14 104 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131388859 131388859 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr9:131388859G>A ENST00000358161.5 + 49 6582 c.6469G>A c.(6469-6471)Gag>Aag p.E2157K SPTAN1_ENST00000372739.3_Missense_Mutation_p.E2157K|SPTAN1_ENST00000372731.4_Missense_Mutation_p.E2152K Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 2152 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 CCAGCTGGCCGAGCTGGACCG 0.597000 13 36 0 0 1 0 0 CASC5 57082 broad.mit.edu 37 15 40917795 40917795 + Missense_Mutation SNP G G T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr15:40917795G>T ENST00000346991.5 + 11 5801 c.5411G>T c.(5410-5412)aGa>aTa p.R1804I CASC5_ENST00000399668.2_Missense_Mutation_p.R1778I Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 1804 acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) AAAAAAATCAGAAAAAATGAG 0.333000 5 37 5.9392e-07 6.33719e-07 1 1 0 NCOR2 9612 broad.mit.edu 37 12 124820110 124820110 + Missense_Mutation SNP T T C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr12:124820110T>C ENST00000356219.3 - 40 6360 c.6205A>G c.(6205-6207)Acc>Gcc p.T2069A NCOR2_ENST00000404121.2_Missense_Mutation_p.T1623A|NCOR2_ENST00000404621.1_Missense_Mutation_p.T2052A|NCOR2_ENST00000397355.1_Missense_Mutation_p.T2053A|NCOR2_ENST00000405201.1_Missense_Mutation_p.T2062A|NCOR2_ENST00000429285.2_Missense_Mutation_p.T2052A NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 2073 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) TTGTCGTGGGTCAGACTGGGT 0.677000 4 21 0 0 1 0 0 TREM1 54210 broad.mit.edu 37 6 41254347 41254347 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr6:41254347G>A ENST00000591620.1 - 1 73 c.47C>T c.(46-48)tCa>tTa p.S16L TREM1_ENST00000589614.1_Missense_Mutation_p.S16L|TREM1_ENST00000244709.4_Missense_Mutation_p.S16L|TREM1_ENST00000334475.6_Missense_Mutation_p.S16L NM_001242589.1 NP_001229518.1 Q9NP99 TREM1_HUMAN triggering receptor expressed on myeloid cells 1 16 blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration extracellular region|integral to membrane|intracellular|plasma membrane receptor activity NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1) 16 Ovarian(28;0.0327)|Colorectal(47;0.196) Glutathione(DB00143) TGTCTTACCTGAGACAAAGAG 0.577000 10 79 0 0 1 0 0 LINC00264 645528 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 4 22 0 0 1 0 0 C4orf40 401137 broad.mit.edu 37 4 71021792 71021792 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr4:71021792G>A ENST00000344526.5 + 2 262 c.73G>A c.(73-75)Gag>Aag p.E25K C4orf40_ENST00000502294.1_Missense_Mutation_p.E25K|C4orf40_ENST00000502441.2_Intron NM_214711.3 NP_999876.2 Q6MZM9 CD040_HUMAN chromosome 4 open reading frame 40 25 extracellular region breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 CTTCATTGGTGAGGTAAAACT 0.264000 4 52 0 0 1 0 0 NPY5R 4889 broad.mit.edu 37 4 164271826 164271826 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr4:164271826C>T ENST00000515560.1 + 4 1923 c.401C>T c.(400-402)tCa>tTa p.S134L NPY5R_ENST00000506953.1_Missense_Mutation_p.S134L|NPY5R_ENST00000338566.3_Missense_Mutation_p.S134L Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 134 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane p.L130fs*9(1) NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) ATTTTAATATCAATTGCCATT 0.358000 42 159 0 0 1 0 0 ZNHIT2 741 broad.mit.edu 37 11 64884048 64884048 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr11:64884048C>T ENST00000310597.4 - 1 1122 c.1078G>A c.(1078-1080)Gac>Aac p.D360N NM_014205.2 NP_055020.1 Q9UHR6 ZNHI2_HUMAN zinc finger, HIT-type containing 2 360 metal ion binding breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1) 6 CTGGCGCAGTCTAGGGCCAGG 0.647000 15 64 0 0 1 0 0 GHR 2690 broad.mit.edu 37 5 42718627 42718627 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr5:42718627G>A ENST00000230882.4 + 10 1208 c.1018G>A c.(1018-1020)Gac>Aac p.D340N GHR_ENST00000357703.3_Missense_Mutation_p.D318N|GHR_ENST00000513625.1_3'UTR|GHR_ENST00000537449.1_Missense_Mutation_p.D153N NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 340 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) CCACAGTGATGACTCTTGGGT 0.378000 130 143 0 0 1 0 0 NIPAL1 152519 broad.mit.edu 37 4 48035086 48035086 + Missense_Mutation SNP G G C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr4:48035086G>C ENST00000295461.5 + 4 513 c.447G>C c.(445-447)ttG>ttC p.L149F NIPAL1_ENST00000508180.1_3'UTR NM_207330.1 NP_997213.1 Q6NVV3 NIPA3_HUMAN NIPA-like domain containing 1 149 integral to membrane endometrium(2)|large_intestine(1)|lung(3)|skin(2) 8 TGGGTGCTTTGAGTGTTCTCA 0.428000 13 43 0 0 1 0 0 CLCN3 1182 broad.mit.edu 37 4 170608906 170608906 + Nonsense_Mutation SNP C C A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr4:170608906C>A ENST00000513761.1 + 4 975 c.416C>A c.(415-417)tCa>tAa p.S139* CLCN3_ENST00000360642.3_Nonsense_Mutation_p.S139*|CLCN3_ENST00000347613.4_Nonsense_Mutation_p.S139*|CLCN3_ENST00000504131.2_Nonsense_Mutation_p.S122* NM_001829.3 NP_001820.2 P51790 CLCN3_HUMAN chloride channel, voltage-sensitive 3 139 endosomal lumen acidification cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 29 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) GGATTGGCATCAGGTAAAGAA 0.358000 12 62 4.84862e-15 5.51463e-15 1 1 0 NCOR2 9612 broad.mit.edu 37 12 124832794 124832794 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr12:124832794G>A ENST00000356219.3 - 30 4087 c.3932C>T c.(3931-3933)aCg>aTg p.T1311M NCOR2_ENST00000404121.2_Missense_Mutation_p.T865M|NCOR2_ENST00000404621.1_Missense_Mutation_p.T1294M|NCOR2_ENST00000397355.1_Missense_Mutation_p.T1295M|NCOR2_ENST00000405201.1_Missense_Mutation_p.T1304M|NCOR2_ENST00000429285.2_Missense_Mutation_p.T1294M NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 1312 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GGGGGCGGCCGTCTCATGGGG 0.612000 OREG0022238 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 66 0 0 1 0 0 HOXC8 3224 broad.mit.edu 37 12 54405067 54405067 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr12:54405067G>A ENST00000040584.4 + 2 868 c.631G>A c.(631-633)Gat>Aat p.D211N RP11-834C11.12_ENST00000513209.1_Intron NM_022658.3 NP_073149.1 P31273 HXC8_HUMAN homeobox C8 211 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3) 8 GAACAACAAGGATAAACTGCC 0.488000 17 49 0 0 1 0 0 HHIP 64399 broad.mit.edu 37 4 145573799 145573799 + Missense_Mutation SNP G G C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr4:145573799G>C ENST00000296575.3 + 2 977 c.322G>C c.(322-324)Gag>Cag p.E108Q HHIP_ENST00000434550.2_Missense_Mutation_p.E108Q|HHIP_ENST00000511314.1_3'UTR|HHIP-AS1_ENST00000512359.1_RNA NM_022475.2 NP_071920.1 Q96QV1 HHIP_HUMAN hedgehog interacting protein 108 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) GAAGTTACTGGAGGAAATCAA 0.393000 19 92 0 0 1 0 0 C9orf172 389813 broad.mit.edu 37 9 139739888 139739888 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr9:139739888C>T ENST00000436881.1 + 1 1022 c.1022C>T c.(1021-1023)tCc>tTc p.S341F NM_001080482.2 NP_001073951.2 C9J069 CI172_HUMAN chromosome 9 open reading frame 172 341 Pro-rich. endometrium(2)|large_intestine(1)|lung(6) 9 GAACCGCCCTCCCGCTCCTAC 0.701000 5 17 0 0 1 0 0 NLGN4X 57502 broad.mit.edu 37 X 6069450 6069450 + Missense_Mutation SNP T T A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chrX:6069450T>A ENST00000381095.3 - 2 685 c.58A>T c.(58-60)Atg>Ttg p.M20L NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000381092.1_Missense_Mutation_p.M20L|NLGN4X_ENST00000275857.6_Missense_Mutation_p.M20L|NLGN4X_ENST00000538097.1_Missense_Mutation_p.M20L|NLGN4X_ENST00000381093.2_Missense_Mutation_p.M20L NM_001282145.1|NM_001282146.1|NM_181332.1 NP_001269074.1|NP_001269075.1|NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 20 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 GAGTTTAACATGACGCAGACC 0.498000 25 13 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108719425 108719425 + Silent SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr3:108719425C>T ENST00000232603.5 - 21 2248 c.2166G>A c.(2164-2166)acG>acA p.T722T MORC1_ENST00000483760.1_Silent_p.T701T NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 722 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 CTGAATCACTCGTGTTCTCAT 0.363000 4 82 0 0 1 0 0 ZNHIT2 741 broad.mit.edu 37 11 64884237 64884237 + Nonsense_Mutation SNP C C A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr11:64884237C>A ENST00000310597.4 - 1 933 c.889G>T c.(889-891)Gag>Tag p.E297* NM_014205.2 NP_055020.1 Q9UHR6 ZNHI2_HUMAN zinc finger, HIT-type containing 2 297 metal ion binding breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1) 6 GTCGGGCCCTCGCCCAGCAGG 0.711000 13 44 1.5842e-08 1.70797e-08 1 1 0 ABHD16B 140701 broad.mit.edu 37 20 62493636 62493636 + Missense_Mutation SNP T T C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr20:62493636T>C ENST00000369916.3 + 1 1071 c.743T>C c.(742-744)gTt>gCt p.V248A NM_080622.3 NP_542189.1 Q9H3Z7 ABHGB_HUMAN abhydrolase domain containing 16B 248 hydrolase activity endometrium(2)|kidney(1)|lung(3) 6 GGCTGGTCTGTTGGCGGCTTC 0.672000 7 18 0 0 1 0 0 ESRRA 2101 broad.mit.edu 37 11 64082320 64082320 + Missense_Mutation SNP A A G TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr11:64082320A>G ENST00000405666.1 + 5 913 c.679A>G c.(679-681)Acc>Gcc p.T227A ESRRA_ENST00000406310.1_Missense_Mutation_p.T226A|ESRRA_ENST00000000442.6_Missense_Mutation_p.T227A NM_001282450.1 NP_001269379.1 P11474 ERR1_HUMAN estrogen-related receptor alpha 227 Ligand binding domain. positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(4)|lung(8) 14 AGCCGTGGCTACCCTCTGTGA 0.612000 12 21 0 0 1 0 0 MDGA1 266727 broad.mit.edu 37 6 37622284 37622284 + Missense_Mutation SNP G G C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr6:37622284G>C ENST00000297153.7 - 6 1926 c.748C>G c.(748-750)Ctg>Gtg p.L250V MDGA1_ENST00000505425.1_Missense_Mutation_p.L250V|MDGA1_ENST00000434837.3_Missense_Mutation_p.L250V Q8NFP4 MDGA1_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 1 250 Ig-like 3. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 TTCACCACCAGAGTTTCGTTC 0.617000 43 78 0 0 1 0 0 FMO3 2328 broad.mit.edu 37 1 171086520 171086520 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr1:171086520C>T ENST00000367755.4 + 9 1648 c.1537C>T c.(1537-1539)Cat>Tat p.H513Y FMO3_ENST00000542847.1_Missense_Mutation_p.H493Y|FMO3_ENST00000538429.1_Missense_Mutation_p.H450Y|FMO3_ENST00000392085.2_Missense_Mutation_p.H513Y NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 513 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CTTCTTTTTCCATTGGCTGAA 0.458000 62 50 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121747574 121747574 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr2:121747574G>A ENST00000452319.1 + 14 4144 c.4084G>A c.(4084-4086)Gct>Act p.A1362T GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.A1362T P10070 GLI2_HUMAN GLI family zinc finger 2 1362 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) GATGGGGGTGGCTACAGCAGG 0.697000 4 7 0 0 1 0 0 ZNF451 26036 broad.mit.edu 37 6 57012841 57012841 + Missense_Mutation SNP G G C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr6:57012841G>C ENST00000370706.4 + 10 2202 c.1958G>C c.(1957-1959)cGa>cCa p.R653P RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.R653P|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.R653P|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 653 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.R653Q(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) ACATTGTACCGACATTGCCAA 0.373000 57 84 0 0 1 0 0 EXOC7 23265 broad.mit.edu 37 17 74097331 74097331 + Silent SNP G G A rs9895541 by1000genomes TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr17:74097331G>A ENST00000406660.3 - 4 479 c.438C>T c.(436-438)aaC>aaT p.N146N EXOC7_ENST00000467929.2_Intron|EXOC7_ENST00000405575.4_Intron|EXOC7_ENST00000607838.1_Intron|EXOC7_ENST00000332065.5_Intron|EXOC7_ENST00000411744.2_Intron|EXOC7_ENST00000335146.7_Intron|EXOC7_ENST00000589210.1_Intron NM_001282314.1 NP_001269243.1 Q9UPT5 EXOC7_HUMAN exocyst complex component 7 0 exocytosis|protein transport centriolar satellite|cytosol|exocyst|plasma membrane protein binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 14 LUSC - Lung squamous cell carcinoma(166;0.187) AGCTTCTCACGTTATTCTGCG 0.507000 4 66 0 0 1 0 0 CWC27 10283 broad.mit.edu 37 5 64100077 64100077 + Missense_Mutation SNP G G C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr5:64100077G>C ENST00000508024.1 + 10 1003 c.802G>C c.(802-804)Gag>Cag p.E268Q CWC27_ENST00000381070.3_Missense_Mutation_p.E268Q Q6UX04 CWC27_HUMAN CWC27 spliceosome-associated protein homolog (S. cerevisiae) 268 protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1) 21 TGAAAGTGCAGAGCATGATGA 0.368000 16 31 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100866463 100866463 + Missense_Mutation SNP G G T rs149659649 byFrequency TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr8:100866463G>T ENST00000358544.2 + 56 11032 c.10921G>T c.(10921-10923)Gct>Tct p.A3641S VPS13B_ENST00000357162.2_Missense_Mutation_p.A3616S|VPS13B_ENST00000395996.1_3'UTR NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3641 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) GCACTATGCCGCTGGGGCCCT 0.552000 22 17 2.37509e-13 2.67198e-13 1 1 0 SPATA22 84690 broad.mit.edu 37 17 3352265 3352265 + Missense_Mutation SNP T T C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr17:3352265T>C ENST00000573128.1 - 6 991 c.508A>G c.(508-510)Aaa>Gaa p.K170E SPATA22_ENST00000397168.3_Missense_Mutation_p.K170E|SPATA22_ENST00000355380.4_Missense_Mutation_p.K127E|SPATA22_ENST00000575375.1_Missense_Mutation_p.K170E|SPATA22_ENST00000268981.5_Missense_Mutation_p.K170E|SPATA22_ENST00000572969.1_Missense_Mutation_p.K170E|SPATA22_ENST00000541913.1_Missense_Mutation_p.K154E Q8NHS9 SPT22_HUMAN spermatogenesis associated 22 170 breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2) 19 TCGGTTTCTTTGTTGCGAGAT 0.403000 71 175 0 0 1 0 0 SPG20 23111 broad.mit.edu 37 13 36909198 36909198 + Missense_Mutation SNP G G C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr13:36909198G>C ENST00000451493.1 - 2 987 c.770C>G c.(769-771)tCt>tGt p.S257C SPG20_ENST00000355182.4_Missense_Mutation_p.S257C|SPG20_ENST00000494062.2_Missense_Mutation_p.S257C|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000438666.2_Missense_Mutation_p.S257C NM_001142295.1 NP_001135767.1 Q8N0X7 SPG20_HUMAN spastic paraplegia 20 (Troyer syndrome) 257 cell death cytoplasm ubiquitin protein ligase binding breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 27 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026) CGTATCGAGAGAATTATCCAA 0.388000 31 98 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27059176 27059176 + Missense_Mutation SNP C C G TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr1:27059176C>G ENST00000324856.7 + 4 2184 c.1813C>G c.(1813-1815)Caa>Gaa p.Q605E ARID1A_ENST00000374152.2_Missense_Mutation_p.Q222E|ARID1A_ENST00000457599.2_Missense_Mutation_p.Q605E NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 605 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GGAGCTATCTCAAGATTCATT 0.483000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 12 73 0 0 1 0 0 DGKA 1606 broad.mit.edu 37 12 56334764 56334764 + Splice_Site SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr12:56334764G>A ENST00000331886.5 + 13 1555 c.1101G>A c.(1099-1101)cgG>cgA p.R367R DGKA_ENST00000394147.1_Splice_Site_p.R367R|DGKA_ENST00000551156.1_Splice_Site_p.R367R|DGKA_ENST00000549079.2_3'UTR NM_001345.4 NP_001336.2 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 367 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1) 25 Vitamin E(DB00163) AGGCTCTGCGGGTACAGGGCT 0.542000 7 27 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137710579 137710579 + Silent SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr9:137710579G>A ENST00000371817.3 + 55 4722 c.4308G>A c.(4306-4308)ccG>ccA p.P1436P NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1436 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding p.P1436P(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) AGCCCGGACCGGATGGCCTTC 0.697000 4 12 0 0 1 0 0 REM1 28954 broad.mit.edu 37 20 30071976 30071976 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr20:30071976G>A ENST00000201979.2 + 5 933 c.640G>A c.(640-642)Gct>Act p.A214T NM_014012.4 NP_054731.2 O75628 REM1_HUMAN RAS (RAD and GEM)-like GTP-binding 1 214 small GTPase mediated signal transduction membrane calmodulin binding|GTP binding|GTPase activity kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1) 23 all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) CCGCGCCTGCGCTGTGGTGTT 0.617000 10 6 0 0 1 0 0 EIF4A3 9775 broad.mit.edu 37 17 78115630 78115630 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr17:78115630C>T ENST00000269349.3 - 3 481 c.260G>A c.(259-261)gGa>gAa p.G87E NM_014740.3 NP_055555.1 P38919 IF4A3_HUMAN eukaryotic translation initiation factor 4A3 87 Helicase ATP-binding. mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 10 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) GGCTGTTTTTCCTGTGCCGGA 0.473000 4 73 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578454 7578454 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr17:7578454G>A ENST00000420246.2 - 5 608 c.476C>T c.(475-477)gCc>gTc p.A159V TP53_ENST00000455263.2_Missense_Mutation_p.A159V|TP53_ENST00000413465.2_Missense_Mutation_p.A159V|TP53_ENST00000445888.2_Missense_Mutation_p.A159V|TP53_ENST00000269305.4_Missense_Mutation_p.A159V|TP53_ENST00000359597.4_Missense_Mutation_p.A159V NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 159 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.A159V(33)|p.0?(8)|p.A159D(7)|p.R158fs(6)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R26fs(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R158fs*11(1)|p.A66V(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.A27V(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(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) GATGGCCATGGCGCGGACGCG 0.627000 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) 16 64 0 0 1 0 0 CCDC138 165055 broad.mit.edu 37 2 109403310 109403310 + Frame_Shift_Del DEL A A - TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr2:109403310delA ENST00000295124.4 + 1 92 c.32delA c.(31-33)cagfs p.Q11fs CCDC138_ENST00000470608.1_Intron|CCDC138_ENST00000412964.2_Frame_Shift_Del_p.Q11fs NM_144978.1 NP_659415.1 Q96M89 CC138_HUMAN coiled-coil domain containing 138 11 endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 14 CCACCGGGGCAGGATTTAGTA 0.667 2 4 --- --- --- --- SYN2 6854 broad.mit.edu 37 3 12046124 12046126 + RNA DEL AGC AGC - rs76272937 TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr3:12046124_12046126delAGC ENST00000432424.2 + 0 245_247 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 AGCCCCAGCAAGCGCCGAcgccg 0.764 2 4 --- --- --- --- INPP4B 8821 broad.mit.edu 37 4 143003291 143003291 + Frame_Shift_Del DEL G G - TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr4:143003291delG ENST00000513000.1 - 26 2968 c.2535delC c.(2533-2535)gccfs p.A845fs INPP4B_ENST00000262992.4_Frame_Shift_Del_p.A845fs|INPP4B_ENST00000508116.1_Frame_Shift_Del_p.A845fs|INPP4B_ENST00000308502.4_Frame_Shift_Del_p.A845fs|INPP4B_ENST00000509777.1_Frame_Shift_Del_p.A845fs NM_003866.2 NP_003857.2 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 105kDa 845 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 all_hematologic(180;0.158) TCCTGTCTTTGGCACTTTTAC 0.408 26 53 --- --- --- --- HLA-F 3134 broad.mit.edu 37 6 29694802 29694803 + Frame_Shift_Ins INS - - T rs17875385 TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr6:29694802_29694803insT ENST00000259951.7 + 7 1235_1236 c.1179_1180insT c.(1180-1182)tttfs p.F394fs HLA-F_ENST00000440587.2_Intron|HLA-F_ENST00000475996.1_Intron NM_001098479.1 NP_001091949.1 P30511 HLAF_HUMAN major histocompatibility complex, class I, F 0 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 TGTGGATCTTGTTTTTTTTGTG 0.535 7 330 --- --- --- --- TRBV29-1 28558 broad.mit.edu 37 7 142448200 142448207 + RNA DEL GGTGGAAA GGTGGAAA - rs149832120 by1000genomes TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr7:142448200_142448207delGGTGGAAA ENST00000422143.2 + 0 101 GTTAACACTGGGTGGAAAGGTGGAAAGA 0.457 3 4 --- --- --- --- UBXN8 7993 broad.mit.edu 37 8 30612474 30612474 + RNA DEL T T - TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr8:30612474delT ENST00000519246.1 + 0 604 O00124 UBXN8_HUMAN UBX domain protein 8 single fertilization central_nervous_system(1)|lung(2) 3 GGGTTGGTCGttttttttttt 0.393 3 4 --- --- --- --- CCDC83 220047 broad.mit.edu 37 11 85593685 85593685 + Frame_Shift_Del DEL A A - TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr11:85593685delA ENST00000280245.4 + 4 822 c.310delA c.(310-312)aagfs p.K104fs CCDC83_ENST00000529676.2_Intron|CCDC83_ENST00000376067.1_Frame_Shift_Del_p.K61fs|CCDC83_ENST00000342404.3_Frame_Shift_Del_p.K104fs NM_173556.3 NP_775827.2 Q8IWF9 CCD83_HUMAN coiled-coil domain containing 83 104 breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2) 29 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) GGAAAAATGGAAGTTTGAAAG 0.378 23 75 --- --- --- --- HERC2P2 400322 broad.mit.edu 37 15 23285254 23285258 + RNA DEL TCCCT TCCCT - TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr15:23285254_23285258delTCCCT ENST00000560464.1 - 0 5097 CTTTCTTCTCtcccttcccttccct 0.478 5 1 --- --- --- --- SLC6A10P 386757 broad.mit.edu 37 16 32890596 32890596 + RNA DEL C C - TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr16:32890596delC ENST00000330048.5 - 0 3202 NR_003083.2 CATGGCCTCACCCCACCACGG 0.577 2 4 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7577104 7577105 + Frame_Shift_Ins INS - - GGACAGGC TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr17:7577104_7577105insGGACAGGC ENST00000420246.2 - 8 965_966 c.833_834insGCCTGTCC c.(832-834)cctfs p.-278fs TP53_ENST00000359597.4_Frame_Shift_Ins_p.-278fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Frame_Shift_Ins_p.-278fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.-278fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.-278fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 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.P278L(61)|p.P278R(30)|p.P278H(13)|p.0?(8)|p.P278F(3)|p.?(2)|p.P278fs*67(2)|p.R280fs*65(2)|p.G279fs*27(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.P278_G279insXXXXX(1)|p.P278P(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) GGTCTCTCCCAGGACAGGCACA 0.554 111 """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 22 --- --- --- --- RP11-160E2.17 0 broad.mit.edu 37 17 18988562 18988562 + RNA DEL T T - TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr17:18988562delT ENST00000442355.2 + 0 272 CTGATGTGTGTTTTTTTTTTT 0.279 2 4 --- --- --- --- TBC1D3P2 440452 broad.mit.edu 37 17 60347260 60347260 + RNA DEL T T - rs71816198 TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr17:60347260delT ENST00000581291.1 - 0 581 breast(2)|kidney(1)|lung(2) 5 CTCTGAATGATTTTTTTTTTT 0.448 3 5 --- --- --- --- MBD1 4152 broad.mit.edu 37 18 47802039 47802039 + Frame_Shift_Del DEL G G - TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr18:47802039delG ENST00000591416.1 - 8 1154 c.723delC c.(721-723)cccfs p.P241fs MBD1_ENST00000585595.1_Frame_Shift_Del_p.P241fs|MBD1_ENST00000587605.1_Frame_Shift_Del_p.P241fs|MBD1_ENST00000457839.2_Frame_Shift_Del_p.P241fs|MBD1_ENST00000382948.5_Frame_Shift_Del_p.P241fs|MBD1_ENST00000269471.5_Frame_Shift_Del_p.P241fs|MBD1_ENST00000588937.1_Frame_Shift_Del_p.P241fs|MBD1_ENST00000590208.1_Frame_Shift_Del_p.P241fs|MBD1_ENST00000347968.3_Frame_Shift_Del_p.P241fs|MBD1_ENST00000269468.5_Frame_Shift_Del_p.P241fs|MBD1_ENST00000585672.1_Frame_Shift_Del_p.P192fs|MBD1_ENST00000591535.1_Frame_Shift_Del_p.P241fs|MBD1_ENST00000398488.1_Frame_Shift_Del_p.P241fs|MBD1_ENST00000398495.2_Frame_Shift_Del_p.P241fs|MBD1_ENST00000424334.2_Frame_Shift_Del_p.P267fs|MBD1_ENST00000339998.6_Frame_Shift_Del_p.P241fs|MBD1_ENST00000436910.1_Frame_Shift_Del_p.P241fs|MBD1_ENST00000349085.2_Frame_Shift_Del_p.P241fs|MBD1_ENST00000398493.1_Frame_Shift_Del_p.P241fs|MBD1_ENST00000353909.3_Frame_Shift_Del_p.P192fs Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 241 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GAAGGCAGATGGGGCAATGGC 0.637 8 48 --- --- --- --- ALKBH6 84964 broad.mit.edu 37 19 36505121 36505124 + Frame_Shift_Del DEL CCCC CCCC - TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr19:36505121_36505124delCCCC ENST00000378875.3 - 1 17_20 c.12_15delGGGG c.(10-15)agggggfs p.RG4fs ALKBH6_ENST00000495116.2_5'UTR|ALKBH6_ENST00000252984.7_5'UTR|AC002116.8_ENST00000473572.2_RNA|ALKBH6_ENST00000486389.1_5'UTR|ALKBH6_ENST00000485128.1_5'UTR NM_032878.3|NM_198867.1 NP_116267.3|NP_942567.1 Q3KRA9 ALKB6_HUMAN alkB, alkylation repair homolog 6 (E. coli) 0 cytoplasm|nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1) 9 all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) ACATCCCCATCCCCCTCCCAGCCA 0.593 22 71 --- --- --- ---