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 IKZF4 64375 broad.mit.edu 37 12 56427056 56427056 + Silent SNP G G A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr12:56427056G>A ENST00000262032.5 + 11 1315 c.948G>A c.(946-948)ctG>ctA p.L316L IKZF4_ENST00000547167.1_Silent_p.L316L|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000431367.2_Silent_p.L214L|IKZF4_ENST00000547791.1_Silent_p.L271L Q9H2S9 IKZF4_HUMAN IKAROS family zinc finger 4 (Eos) 316 negative regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1) 8 UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123) TCGATCGTCTGGCCAATAGCC 0.502000 34 55 0 0 1 0 0 POLN 353497 broad.mit.edu 37 4 2209864 2209864 + Silent SNP C C T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr4:2209864C>T ENST00000511885.2 - 5 917 c.564G>A c.(562-564)ggG>ggA p.G188G POLN_ENST00000382865.1_Silent_p.G188G|POLN_ENST00000515357.1_5'UTR Q7Z5Q5 DPOLN_HUMAN polymerase (DNA directed) nu 188 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(23;0.0955) CTCCTGAGTTCCCAGAATTTA 0.378000 DNA polymerases (catalytic subunits) 10 37 0 0 1 0 0 TNRC6A 27327 broad.mit.edu 37 16 24802570 24802570 + Silent SNP C C A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr16:24802570C>A ENST00000395799.3 + 6 2736 c.2607C>A c.(2605-2607)gcC>gcA p.A869A TNRC6A_ENST00000315183.7_Silent_p.A869A NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 869 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) GGGGTGAGGCCAATAAGAAAT 0.463000 18 26 1.67942e-08 1.75663e-08 1 1 0 AGAP10 728127 broad.mit.edu 37 10 47207813 47207813 + Splice_Site SNP T T C TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr10:47207813T>C ENST00000355232.3 - 5 3482 c.471_splice c.e5+1 p.H157_splice AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|RP11-144G6.12_ENST00000605970.1_RNA ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 p.H228R(20) endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 TTTACTTACATGGTTTGTACA 0.294000 3 26 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187538223 187538223 + Nonsense_Mutation SNP G G C TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr4:187538223G>C ENST00000441802.2 - 11 9220 c.9011C>G c.(9010-9012)tCa>tGa p.S3004* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3004 Cadherin 27. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CGCTTTTGATGAGAAGGTGCC 0.393000 HNSCC(5;0.00058) 19 42 0 0 1 0 0 ZNF718 255403 broad.mit.edu 37 4 155275 155275 + RNA SNP C C G TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr4:155275C>G ENST00000510175.1 + 0 710 Q3SXZ3 ZN718_HUMAN zinc finger protein 718 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18) TTTAACCAATCCTCAACCCTT 0.353000 12 30 0 0 1 0 0 MYO9A 4649 broad.mit.edu 37 15 72190746 72190746 + Silent SNP T T C TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr15:72190746T>C ENST00000356056.5 - 25 4570 c.4098A>G c.(4096-4098)aaA>aaG p.K1366K MYO9A_ENST00000444904.1_Silent_p.K1347K|MYO9A_ENST00000564571.1_Silent_p.K1366K|MYO9A_ENST00000566885.1_Silent_p.K986K|MYO9A_ENST00000424560.1_Silent_p.K1366K|MYO9A_ENST00000563542.1_5'UTR NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 1366 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 GTGAATCAAATTTTGGACTGC 0.443000 32 33 0 0 1 0 0 LILRB5 10990 broad.mit.edu 37 19 54758896 54758896 + Silent SNP C C G TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr19:54758896C>G ENST00000450632.1 - 6 1007 c.930G>C c.(928-930)ctG>ctC p.L310L LILRB5_ENST00000449561.2_Silent_p.L319L|LILRB5_ENST00000316219.5_Silent_p.L319L|LILRB5_ENST00000345866.6_Silent_p.L219L O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 319 Ig-like C2-type 3. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGTCAGGGATCAGTCCTGGAG 0.597000 3 27 0 0 1 0 0 NPAS4 266743 broad.mit.edu 37 11 66192413 66192413 + Silent SNP G G C TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr11:66192413G>C ENST00000311034.2 + 7 2228 c.2052G>C c.(2050-2052)ctG>ctC p.L684L NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 684 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 TGCTCAGCCTGGACCTGAAAC 0.602000 47 106 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123987498 123987498 + Missense_Mutation SNP G G A rs114249776 byFrequency TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr10:123987498G>A ENST00000369005.1 + 14 8211 c.7871G>A c.(7870-7872)gGc>gAc p.G2624D TACC2_ENST00000358010.1_Missense_Mutation_p.G770D|TACC2_ENST00000453444.2_Missense_Mutation_p.G2628D|TACC2_ENST00000513429.1_Missense_Mutation_p.G770D|TACC2_ENST00000369001.1_Missense_Mutation_p.G328D|TACC2_ENST00000515603.1_Missense_Mutation_p.G2579D|TACC2_ENST00000515273.1_Missense_Mutation_p.G2628D|TACC2_ENST00000369000.1_Missense_Mutation_p.G324D|TACC2_ENST00000360561.3_Missense_Mutation_p.G702D|TACC2_ENST00000334433.3_Missense_Mutation_p.G2624D|TACC2_ENST00000260733.3_Missense_Mutation_p.G702D|TACC2_ENST00000369004.3_Missense_Mutation_p.G714D|TACC2_ENST00000368999.1_Missense_Mutation_p.G714D NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 2624 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) ATGGGCTTGGGCACCCCTTCA 0.572000 37 57 0 0 1 0 0 AR 367 broad.mit.edu 37 X 66765955 66765955 + Missense_Mutation SNP G G C TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chrX:66765955G>C ENST00000374690.3 + 1 1491 c.967G>C c.(967-969)Gag>Cag p.E323Q AR_ENST00000396044.3_Missense_Mutation_p.E323Q|AR_ENST00000504326.1_Missense_Mutation_p.E323Q|AR_ENST00000513847.1_3'UTR NM_000044.3 NP_000035.2 P10275 ANDR_HUMAN androgen receptor 321 Modulating. cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3) 67 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) GCTAGAAGGCGAGAGCCTAGG 0.572000 Androgen Insensitivity Syndrome 37 9 0 0 1 0 0 LIN9 286826 broad.mit.edu 37 1 226485424 226485424 + Missense_Mutation SNP T T G TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr1:226485424T>G ENST00000328205.5 - 3 748 c.203A>C c.(202-204)gAa>gCa p.E68A LIN9_ENST00000366801.1_Missense_Mutation_p.E52A|LIN9_ENST00000481685.1_Missense_Mutation_p.E68A NM_173083.3 NP_775106.2 Q5TKA1 LIN9_HUMAN lin-9 homolog (C. elegans) 52 Sufficient for interaction with RB1. cell cycle|DNA replication nucleoplasm breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.131) CCTTACCATTTCCACAGCAGA 0.333000 21 87 0 0 1 0 0 EIF2B4 8890 broad.mit.edu 37 2 27592363 27592363 + Missense_Mutation SNP C C G TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr2:27592363C>G ENST00000493344.2 - 2 504 c.192G>C c.(190-192)aaG>aaC p.K64N EIF2B4_ENST00000451130.2_Missense_Mutation_p.K64N|EIF2B4_ENST00000445933.2_Missense_Mutation_p.K43N|EIF2B4_ENST00000347454.4_Missense_Mutation_p.K43N Q9UI10 EI2BD_HUMAN eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa 43 myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex translation initiation factor activity|translation initiation factor binding p.K64N(1)|p.K43N(1) breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCTGCTGTTTCTTTTCCTTCC 0.498000 12 78 0 0 1 0 0 DIP2C 22982 broad.mit.edu 37 10 518437 518437 + Silent SNP G G A rs148545889 TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr10:518437G>A ENST00000280886.6 - 3 297 c.210C>T c.(208-210)tcC>tcT p.S70S DIP2C_ENST00000381496.3_5'UTR NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 70 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) AGCGAGAGGCGGAGGAAGGAG 0.582000 37 63 0 0 1 0 0 MAST2 23139 broad.mit.edu 37 1 46487694 46487694 + Missense_Mutation SNP A A C TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr1:46487694A>C ENST00000361297.2 + 12 1646 c.1363A>C c.(1363-1365)Aaa>Caa p.K455Q MAST2_ENST00000372008.1_Missense_Mutation_p.K340Q|MAST2_ENST00000372009.2_Missense_Mutation_p.K385Q NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 455 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) ACAAGGGATTAAATGTGACAT 0.552000 77 258 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56480344 56480344 + Missense_Mutation SNP C C T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr6:56480344C>T ENST00000370765.6 - 24 8028 c.7921G>A c.(7921-7923)Gga>Aga p.G2641R DST_ENST00000312431.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 0 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) CTAGAAATTCCTGTCATCAGG 0.388000 16 38 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56485171 56485171 + Nonsense_Mutation SNP T T A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr19:56485171T>A ENST00000291971.3 + 7 2759 c.2688T>A c.(2686-2688)tgT>tgA p.C896* NLRP8_ENST00000590542.1_Nonsense_Mutation_p.C877* NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 896 cytoplasm ATP binding p.C896*(1) breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) ACCTGAGATGTCCTCTGCAGA 0.473000 40 43 0 0 1 0 0 TEP1 7011 broad.mit.edu 37 14 20841549 20841549 + Missense_Mutation SNP G G A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr14:20841549G>A ENST00000262715.5 - 47 6734 c.6694C>T c.(6694-6696)Cac>Tac p.H2232Y TEP1_ENST00000545983.1_Missense_Mutation_p.H570Y|TEP1_ENST00000556935.1_Missense_Mutation_p.H2124Y NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 2232 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) AGGAGGGTGTGGGTTTGGCAC 0.582000 34 36 0 0 1 0 0 PAX6 5080 broad.mit.edu 37 11 31822284 31822284 + Missense_Mutation SNP G G C TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr11:31822284G>C ENST00000419022.1 - 8 988 c.520C>G c.(520-522)Cct>Gct p.P174A PAX6_ENST00000241001.8_Missense_Mutation_p.P160A|PAX6_ENST00000379123.5_Missense_Mutation_p.P160A|PAX6_ENST00000379115.4_Missense_Mutation_p.P174A|PAX6_ENST00000379107.2_Missense_Mutation_p.P174A|PAX6_ENST00000379132.3_Missense_Mutation_p.P160A|PAX6_ENST00000379111.2_Missense_Mutation_p.P160A|PAX6_ENST00000379129.2_Missense_Mutation_p.P174A NM_001127612.1|NM_001258462.1|NM_001258463.1 NP_001121084.1|NP_001245391.1|NP_001245392.1 P26367 PAX6_HUMAN paired box 6 160 Gln/Gly-rich. blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception cytoplasm|nuclear chromatin R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2) 35 Lung SC(675;0.225) TACCAACCAGGGCGGGTGCCC 0.567000 Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation 43 76 0 0 1 0 0 ZNF711 7552 broad.mit.edu 37 X 84526391 84526391 + Missense_Mutation SNP A A G TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chrX:84526391A>G ENST00000360700.4 + 10 2867 c.1981A>G c.(1981-1983)Aag>Gag p.K661E ZNF711_ENST00000395402.1_Missense_Mutation_p.K623E|ZNF711_ENST00000276123.3_Missense_Mutation_p.K615E|ZNF711_ENST00000373165.3_Missense_Mutation_p.K615E|ZNF711_ENST00000542798.1_Missense_Mutation_p.K457E Q9Y462 ZN711_HUMAN zinc finger protein 711 615 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 TGTCCATACTAAGGATTTTCC 0.408000 14 4 0 0 1 0 0 USH1G 124590 broad.mit.edu 37 17 72916692 72916692 + Missense_Mutation SNP C C A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr17:72916692C>A ENST00000319642.1 - 2 421 c.239G>T c.(238-240)tGc>tTc p.C80F NM_173477.2 NP_775748.2 Q495M9 USH1G_HUMAN Usher syndrome 1G (autosomal recessive) 80 equilibrioception|photoreceptor cell maintenance|sensory perception of sound actin cytoskeleton HN1/USH1G(2) endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3) 14 all_lung(278;0.172)|Lung NSC(278;0.207) GAAGGACAGGCAGTGCAAGTG 0.592000 18 74 2.35188e-11 2.50317e-11 1 1 0 MTFR2 113115 broad.mit.edu 37 6 136560842 136560842 + Missense_Mutation SNP G G A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr6:136560842G>A ENST00000420702.1 - 6 1020 c.631C>T c.(631-633)Cct>Tct p.P211S MTFR2_ENST00000451457.2_Missense_Mutation_p.P211S NM_001099286.1 NP_001092756.1 mitochondrial fission regulator 2 agtggtggaggaggaggagga 0.512000 13 36 0 0 1 0 0 TMUB1 83590 broad.mit.edu 37 7 150778971 150778971 + Missense_Mutation SNP G G A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr7:150778971G>A ENST00000392818.3 - 3 763 c.406C>T c.(406-408)Cgg>Tgg p.R136W TMUB1_ENST00000476627.1_Missense_Mutation_p.R136W|TMUB1_ENST00000462940.1_Missense_Mutation_p.R136W|TMUB1_ENST00000482202.1_Missense_Mutation_p.R136W|TMUB1_ENST00000297533.4_Missense_Mutation_p.R136W NM_031434.3 NP_113622.1 Q9BVT8 TMUB1_HUMAN transmembrane and ubiquitin-like domain containing 1 136 Ubiquitin-like. cytoplasm|integral to membrane|nucleus endometrium(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGCTGTTCCCGGCCGGGAAAC 0.647000 4 2 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136570329 136570329 + Silent SNP G G A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr2:136570329G>A ENST00000264162.2 - 7 1915 c.1905C>T c.(1903-1905)gtC>gtT p.V635V NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 635 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) CATCCACAAAGACGGGGTGTG 0.582000 12 93 0 0 1 0 0 UNC5B 219699 broad.mit.edu 37 10 73053606 73053606 + Silent SNP G G T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr10:73053606G>T ENST00000335350.6 + 13 2507 c.2091G>T c.(2089-2091)ctG>ctT p.L697L UNC5B_ENST00000373192.4_Silent_p.L686L NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 697 apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 GGCTCCAGCTGGCCGTCTTCG 0.657000 6 19 0.248553 0.248553 1 1 0 CR1L 1379 broad.mit.edu 37 1 207857216 207857216 + Splice_Site SNP G G C TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr1:207857216G>C ENST00000508064.2 + 4 437 c.e4-1 CR1L_ENST00000530905.1_Splice_Site NM_175710.1 NP_783641.1 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like cytoplasm|extracellular region|membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 TTTGCCTCTAGATACCGACTC 0.378000 12 22 0 0 1 0 0 RNF182 221687 broad.mit.edu 37 6 13978077 13978077 + Missense_Mutation SNP A A G TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr6:13978077A>G ENST00000488300.1 + 3 1250 c.727A>G c.(727-729)Atg>Gtg p.M243V RNF182_ENST00000537663.1_Missense_Mutation_p.M243V|RNF182_ENST00000537388.1_Missense_Mutation_p.M243V|RNF182_ENST00000544682.1_Missense_Mutation_p.M243V NM_152737.3 NP_689950.1 Q8N6D2 RN182_HUMAN ring finger protein 182 243 cytoplasm|integral to membrane|intracellular membrane-bounded organelle protein binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(50;0.00405)|Ovarian(93;0.0964) all_hematologic(90;0.135) Epithelial(50;0.195) TCTAGACTGTATGGCACCTCC 0.388000 12 158 0 0 1 0 0 NIN 51199 broad.mit.edu 37 14 51204924 51204924 + Silent SNP T T C TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr14:51204924T>C ENST00000245441.5 - 27 5899 c.5709A>G c.(5707-5709)caA>caG p.Q1903Q NIN_ENST00000530997.2_Silent_p.Q1903Q|NIN_ENST00000382041.3_Silent_p.Q1903Q|NIN_ENST00000453196.1_Silent_p.Q1903Q|NIN_ENST00000382043.4_Silent_p.Q1190Q|NIN_ENST00000324330.9_Silent_p.Q1903Q|NIN_ENST00000389868.3_Silent_p.Q1190Q NM_020921.3 NP_065972.3 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 1903 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) TCAATTTTTCTTGCTCTGTGG 0.408000 T PDGFRB MPD 48 51 0 0 1 0 0 SEC24B 10427 broad.mit.edu 37 4 110448567 110448567 + Missense_Mutation SNP A A G TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr4:110448567A>G ENST00000265175.5 + 18 3110 c.3055A>G c.(3055-3057)Atc>Gtc p.I1019V SEC24B_ENST00000504968.2_Missense_Mutation_p.I1049V|SEC24B_ENST00000399100.2_Missense_Mutation_p.I984V NM_006323.2 NP_006314.2 O95487 SC24B_HUMAN SEC24 family member B 1019 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) ACAAGCTGCCATCTGCCTTCT 0.418000 21 26 0 0 1 0 0 CRKL 1399 broad.mit.edu 37 22 21272519 21272519 + Missense_Mutation SNP C C G TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr22:21272519C>G ENST00000354336.3 + 1 806 c.297C>G c.(295-297)atC>atG p.I99M NM_005207.3 NP_005198.1 P46109 CRKL_HUMAN v-crk avian sarcoma virus CT10 oncogene homolog-like 99 SH2. JNK cascade|Ras protein signal transduction cytosol protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7) 14 all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176) CCACCCTCATCGAGCCTGCGC 0.612000 20 12 0 0 1 0 0 LMTK2 22853 broad.mit.edu 37 7 97823729 97823729 + Missense_Mutation SNP G G A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr7:97823729G>A ENST00000297293.5 + 11 4245 c.3952G>A c.(3952-3954)Gtg>Atg p.V1318M NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 1318 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CGAGCACCCCGTGCCCATCAT 0.637000 24 327 0 0 1 0 0 ZNF189 7743 broad.mit.edu 37 9 104171753 104171753 + Missense_Mutation SNP A A G TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr9:104171753A>G ENST00000374861.3 + 3 1945 c.1661A>G c.(1660-1662)tAt>tGt p.Y554C ZNF189_ENST00000259395.4_Missense_Mutation_p.Y526C|ZNF189_ENST00000339664.2_Missense_Mutation_p.Y568C NM_001278231.1|NM_001278232.1|NM_003452.2 NP_001265160.1|NP_001265161.1|NP_003443.2 O75820 ZN189_HUMAN zinc finger protein 189 568 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) GAGAAACCTTATAAGTGTGAG 0.433000 38 32 0 0 1 0 0 KRTAP10-6 386674 broad.mit.edu 37 21 46012302 46012302 + Missense_Mutation SNP G G A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr21:46012302G>A ENST00000400368.1 - 1 84 c.64C>T c.(64-66)Cct>Tct p.P22S TSPEAR_ENST00000323084.4_Intron NM_198688.2 NP_941961.2 P60371 KR106_HUMAN keratin associated protein 10-6 22 keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 CAGGAACCAGGAAGGCAGACG 0.677000 3 46 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3900762 3900762 + Missense_Mutation SNP T T C TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr16:3900762T>C ENST00000262367.5 - 2 1143 c.334A>G c.(334-336)Atg>Gtg p.M112V CREBBP_ENST00000382070.3_Missense_Mutation_p.M112V NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 112 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) AGGCTGGCCATGTTAGCACTG 0.637000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 16 45 0 0 1 0 0 CHD2 1106 broad.mit.edu 37 15 93482923 93482923 + Missense_Mutation SNP C C G TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr15:93482923C>G ENST00000394196.4 + 7 1735 c.667C>G c.(667-669)Cgt>Ggt p.R223G CHD2_ENST00000420239.2_Missense_Mutation_p.R223G|CHD2_ENST00000557381.1_Missense_Mutation_p.R223G|CHD2_ENST00000536619.1_Missense_Mutation_p.R236G NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 223 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) AAGGCAGACTCGTCGAAGAGC 0.428000 30 48 0 0 1 0 0 PCDH8 5100 broad.mit.edu 37 13 53422460 53422460 + Missense_Mutation SNP C C G TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr13:53422460C>G ENST00000377942.3 - 1 315 c.112G>C c.(112-114)Gag>Cag p.E38Q PCDH8_ENST00000338862.4_Missense_Mutation_p.E38Q NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 38 Cadherin 1. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) GCATCCTCCTCGAAGGTGCTG 0.597000 48 48 0 0 1 0 0 DNMT3A 1788 broad.mit.edu 37 2 25457210 25457210 + Missense_Mutation SNP A A G TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr2:25457210A>G ENST00000264709.3 - 23 3014 c.2677T>C c.(2677-2679)Tgg>Cgg p.W893R DNMT3A_ENST00000402667.1_Missense_Mutation_p.W670R|DNMT3A_ENST00000380746.4_Missense_Mutation_p.W704R|DNMT3A_ENST00000321117.5_Missense_Mutation_p.W893R NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 893 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding p.W893R(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCACGCTCCATGACCGGCCC 0.557000 """Mis, F, N, S""" AML 25 31 0 0 1 0 0 EFCAB4B 84766 broad.mit.edu 37 12 3757780 3757780 + Splice_Site SNP C C A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr12:3757780C>A ENST00000440314.2 - 11 1520 c.e11-1 EFCAB4B_ENST00000252322.1_Splice_Site|EFCAB4B_ENST00000444507.1_Splice_Site NM_001144958.1 NP_001138430.1 Q9BSW2 EFC4B_HUMAN EF-hand calcium binding domain 4B activation of store-operated calcium channel activity|store-operated calcium entry cytoplasm calcium ion binding|protein binding breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264) GTACACTTCCCTGAGGAGGAG 0.627000 7 19 0.00448238 0.0045575 1 1 0 KCNRG 283518 broad.mit.edu 37 13 50594352 50594352 + Missense_Mutation SNP A A T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr13:50594352A>T ENST00000360473.4 + 3 919 c.679A>T c.(679-681)Atg>Ttg p.M227L TRIM13_ENST00000478111.1_3'UTR|KCNRG_ENST00000312942.1_Missense_Mutation_p.Y194F NM_199464.2 NP_955751.1 Q8N5I3 KCNRG_HUMAN potassium channel regulator 0 voltage-gated potassium channel complex identical protein binding|voltage-gated potassium channel activity haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3) 9 Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204) TGTCCTAGGTATGTTTCTATA 0.353000 6 15 0 0 1 0 0 PTOV1 53635 broad.mit.edu 37 19 50357788 50357788 + Silent SNP C C T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr19:50357788C>T ENST00000391842.1 + 2 467 c.297C>T c.(295-297)ctC>ctT p.L99L PTOV1_ENST00000599732.1_Silent_p.L99L|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000601675.1_Silent_p.L99L|PTOV1_ENST00000601638.1_Silent_p.L67L|AC018766.6_ENST00000601211.1_RNA|PTOV1_ENST00000600603.1_Silent_p.L67L|PTOV1_ENST00000221557.9_Silent_p.L67L NM_017432.3 NP_059128.2 Q86YD1 PTOV1_HUMAN prostate tumor overexpressed 1 99 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|plasma membrane endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1) 16 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132) GCGGCGTCCTCGAGTGGCAGG 0.672000 22 51 0 0 1 0 0 UFL1 23376 broad.mit.edu 37 6 96969791 96969791 + Missense_Mutation SNP C C A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr6:96969791C>A ENST00000369278.4 + 1 108 c.42C>A c.(40-42)gaC>gaA p.D14E UFL1_ENST00000461673.1_3'UTR NM_015323.4 NP_056138.1 O94874 UFL1_HUMAN UFM1-specific ligase 1 14 Required for E3 UFM1-protein ligase activity. negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation endoplasmic reticulum|nucleus protein binding|UFM1 conjugating enzyme activity TGGCGGCCGACTTCCAGCGGG 0.662000 4 15 0.00909568 0.00914593 1 1 0 CDH23 64072 broad.mit.edu 37 10 73551006 73551006 + Missense_Mutation SNP T T C TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr10:73551006T>C ENST00000224721.6 + 46 6187 c.6182T>C c.(6181-6183)cTc>cCc p.L2061P NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 2056 Cadherin 19. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 GCCCACCTGCTCATCACCATC 0.602000 3 26 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577098 7577098 + Missense_Mutation SNP T T A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr17:7577098T>A ENST00000420246.2 - 8 972 c.840A>T c.(838-840)agA>agT p.R280S TP53_ENST00000455263.2_Missense_Mutation_p.R280S|TP53_ENST00000359597.4_Missense_Mutation_p.R280S|TP53_ENST00000269305.4_Missense_Mutation_p.R280S|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R280S NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 280 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (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.R280S(15)|p.0?(8)|p.R280R(3)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(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) TGCGCCGGTCTCTCCCAGGAC 0.542000 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) 13 19 0 0 1 0 0 MYB 4602 broad.mit.edu 37 6 135521286 135521286 + Missense_Mutation SNP C C G TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr6:135521286C>G ENST00000341911.5 + 12 1972 c.1773C>G c.(1771-1773)ttC>ttG p.F591L MYB_ENST00000534044.1_Missense_Mutation_p.F470L|MYB_ENST00000316528.8_Missense_Mutation_p.F470L|MYB_ENST00000525369.1_Missense_Mutation_p.F385L|MYB_ENST00000527615.1_Missense_Mutation_p.F470L|MYB_ENST00000533624.1_Missense_Mutation_p.F435L|MYB_ENST00000528774.1_Missense_Mutation_p.F588L|MYB_ENST00000442647.2_Missense_Mutation_p.F467L|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000534121.1_Missense_Mutation_p.F575L|MYB_ENST00000367814.4_Missense_Mutation_p.F470L NM_001130173.1|NM_001161656.1|NM_001161658.1 NP_001123645.1|NP_001155128.1|NP_001155130.1 P10242 MYB_HUMAN v-myb avian myeloblastosis viral oncogene homolog 509 blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear matrix DNA binding|protein binding breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221) Lung NSC(302;3.08e-05)|Ovarian(999;0.208) OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117) CTACACCATTCAAACATGCAC 0.363000 T NFIB adenoid cystic carcinoma 35 82 0 0 1 0 0 ZBTB8A 653121 broad.mit.edu 37 1 33059037 33059037 + Missense_Mutation SNP G G C TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr1:33059037G>C ENST00000373510.4 + 3 734 c.505G>C c.(505-507)Gag>Cag p.E169Q ZBTB8A_ENST00000316459.4_Missense_Mutation_p.E169Q|RP1-27O5.3_ENST00000480336.1_3'UTR NM_001040441.1 NP_001035531.1 Q96BR9 ZBT8A_HUMAN zinc finger and BTB domain containing 8A 169 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(2)|large_intestine(2)|lung(2)|prostate(1) 7 CCTAAGCCCAGAGCAAGGAAC 0.428000 22 55 0 0 1 0 0 HAO1 54363 broad.mit.edu 37 20 7920950 7920950 + Missense_Mutation SNP A A T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr20:7920950A>T ENST00000378789.3 - 1 171 c.120T>A c.(118-120)aaT>aaA p.N40K NM_017545.2 NP_060015.1 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase (glycolate oxidase) 1 40 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 ATGCTGCAATATTATCAGCCA 0.308000 11 20 0 0 1 0 0 CRY1 1407 broad.mit.edu 37 12 107395078 107395078 + Missense_Mutation SNP C C T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr12:107395078C>T ENST00000008527.5 - 5 1531 c.664G>A c.(664-666)Gaa>Aaa p.E222K NM_004075.3 NP_004066.1 Q16526 CRY1_HUMAN cryptochrome 1 (photolyase-like) 222 FAD-binding. DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1) 29 AAATGCCTTTCCAAACGAGTA 0.323000 4 32 0 0 1 0 0 OFD1 8481 broad.mit.edu 37 X 13767612 13767612 + Nonsense_Mutation SNP A A T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chrX:13767612A>T ENST00000380567.1 + 10 1347 c.475A>T c.(475-477)Aga>Tga p.R159* OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000398395.3_Nonsense_Mutation_p.R299*|OFD1_ENST00000340096.6_Nonsense_Mutation_p.R299*|OFD1_ENST00000380550.3_Nonsense_Mutation_p.R299* O75665 OFD1_HUMAN oral-facial-digital syndrome 1 299 cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle centriole|cilium|cytosol|microtubule basal body|nuclear membrane alpha-tubulin binding|gamma-tubulin binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 25 GCTAAGAGGAAGAGAAGCAGA 0.299000 31 13 0 0 1 0 0 FOXJ2 55810 broad.mit.edu 37 12 8197435 8197435 + Missense_Mutation SNP A A G TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr12:8197435A>G ENST00000162391.3 + 6 1843 c.698A>G c.(697-699)tAt>tGt p.Y233C FOXJ2_ENST00000428177.2_Missense_Mutation_p.Y233C NM_018416.2 NP_060886.1 Q9P0K8 FOXJ2_HUMAN forkhead box J2 233 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development nucleolus|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 16 Kidney(36;0.0944) CCTCCCCTCTATAACACCAAC 0.507000 35 127 0 0 1 0 0 HOOK2 29911 broad.mit.edu 37 19 12878892 12878892 + Missense_Mutation SNP C C T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr19:12878892C>T ENST00000264827.5 - 12 1320 c.1150G>A c.(1150-1152)Gag>Aag p.E384K HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000397668.3_Missense_Mutation_p.E384K NM_001100176.1 NP_001093646.1 Q96ED9 HOOK2_HUMAN hook microtubule-tethering protein 2 384 Sufficient for interaction with microtubules. early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport centrosome|FHF complex|microtubule identical protein binding|microtubule binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1) 20 AGCCATTTCTCGGCCTTCATG 0.597000 48 94 0 0 1 0 0 RGS12 6002 broad.mit.edu 37 4 3415846 3415846 + Missense_Mutation SNP A A G TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr4:3415846A>G ENST00000336727.3 + 5 2972 c.2068A>G c.(2068-2070)Agc>Ggc p.S690G RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000382788.3_Missense_Mutation_p.S690G|RGS12_ENST00000344733.5_Missense_Mutation_p.S690G|RGS12_ENST00000338806.4_Missense_Mutation_p.S42G|RGS12_ENST00000306648.7_Missense_Mutation_p.S88G|RGS12_ENST00000543385.1_3'UTR|RGS12_ENST00000538395.1_Missense_Mutation_p.S32G NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 690 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) CAACAGCCTGAGCAGCAATGC 0.697000 3 5 0 0 1 0 0 NLN 57486 broad.mit.edu 37 5 65077118 65077118 + Nonsense_Mutation SNP T T A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr5:65077118T>A ENST00000380985.5 + 6 870 c.692T>A c.(691-693)tTa>tAa p.L231* NLN_ENST00000502464.1_Nonsense_Mutation_p.L127* NM_020726.4 NP_065777.1 Q9BYT8 NEUL_HUMAN neurolysin (metallopeptidase M3 family) 231 proteolysis mitochondrial intermembrane space metal ion binding|metalloendopeptidase activity central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616) ATTGACAGTTTAGAAAAGACA 0.338000 14 9 0 0 1 0 0 ACOT11 26027 broad.mit.edu 37 1 55062944 55062944 + Missense_Mutation SNP G G C TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr1:55062944G>C ENST00000371316.3 + 7 702 c.620G>C c.(619-621)aGa>aCa p.R207T ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.R207T NM_015547.3 NP_056362.1 Q8WXI4 ACO11_HUMAN acyl-CoA thioesterase 11 207 Acyl coenzyme A hydrolase 2. fatty acid metabolic process|intracellular signal transduction|response to cold acyl-CoA thioesterase activity|carboxylesterase activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1) 17 CTGGAGAGCAGAGACTGTAGC 0.642000 42 46 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 70070781 70070781 + Missense_Mutation SNP C C T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr6:70070781C>T ENST00000370598.1 + 29 4437 c.3616C>T c.(3616-3618)Cct>Tct p.P1206S BAI3_ENST00000546190.1_Missense_Mutation_p.P170S|BAI3_ENST00000238918.8_Missense_Mutation_p.P412S NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1206 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) GGATATTGGTCCTTGCCGAGC 0.358000 9 58 0 0 1 0 0 LRCH3 84859 broad.mit.edu 37 3 197562650 197562650 + Missense_Mutation SNP C C T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr3:197562650C>T ENST00000438796.2 + 9 1252 c.1208C>T c.(1207-1209)tCa>tTa p.S403L LRCH3_ENST00000425562.2_Missense_Mutation_p.S403L|LRCH3_ENST00000414675.2_Intron|LRCH3_ENST00000334859.4_Missense_Mutation_p.S403L|LRCH3_ENST00000536618.1_5'UTR|LRCH3_ENST00000441090.2_Intron Q96II8 LRCH3_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 3 403 extracellular region breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.119) AGCCTTAGTTCACAGTTTATG 0.458000 34 58 0 0 1 0 0 NLN 57486 broad.mit.edu 37 5 65077119 65077119 + Missense_Mutation SNP A A T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr5:65077119A>T ENST00000380985.5 + 6 871 c.693A>T c.(691-693)ttA>ttT p.L231F NLN_ENST00000502464.1_Missense_Mutation_p.L127F NM_020726.4 NP_065777.1 Q9BYT8 NEUL_HUMAN neurolysin (metallopeptidase M3 family) 231 proteolysis mitochondrial intermembrane space metal ion binding|metalloendopeptidase activity central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616) TTGACAGTTTAGAAAAGACAG 0.338000 14 9 0 0 1 0 0 RFPL3 10738 broad.mit.edu 37 22 32756746 32756746 + Missense_Mutation SNP G G A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr22:32756746G>A ENST00000249007.4 + 2 1086 c.881G>A c.(880-882)gGt>gAt p.G294D RFPL3_ENST00000382088.3_Missense_Mutation_p.G265D|RFPL3S_ENST00000461833.1_5'UTR|RFPL3S_ENST00000400234.1_Missense_Mutation_p.P98S|RFPL3S_ENST00000382084.4_Missense_Mutation_p.P69S|RFPL3_ENST00000397468.1_Missense_Mutation_p.G265D NM_001098535.1 NP_001092005.1 O75679 RFPL3_HUMAN ret finger protein-like 3 294 B30.2/SPRY. zinc ion binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1) 15 GGTGATCAAGGTGTCTTGAGC 0.507000 17 78 0 0 1 0 0 BLMH 642 broad.mit.edu 37 17 28598379 28598379 + Silent SNP G G C TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr17:28598379G>C ENST00000261714.6 - 10 1230 c.1056C>G c.(1054-1056)gtC>gtG p.V352V BLMH_ENST00000394819.3_Silent_p.V265V NM_000386.3 NP_000377.1 Q13867 BLMH_HUMAN bleomycin hydrolase 352 proteolysis cytoplasm|nucleus aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1) 13 TCTTCAAGGAGACACCAAACA 0.428000 17 20 0 0 1 0 0 ERAP2 64167 broad.mit.edu 37 5 96244818 96244818 + Silent SNP C C G TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr5:96244818C>G ENST00000437043.3 + 14 2877 c.2166C>G c.(2164-2166)ctC>ctG p.L722L CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Silent_p.L677L NM_001130140.1|NM_022350.3 NP_001123612.1|NP_071745.1 Q6P179 ERAP2_HUMAN endoplasmic reticulum aminopeptidase 2 722 antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding p.L722L(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) CTGAAAACCTCAAGGTTTGTG 0.388000 21 21 0 0 1 0 0 PTCHD4 442213 broad.mit.edu 37 6 48036107 48036107 + Silent SNP G G A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr6:48036107G>A ENST00000543600.1 - 1 273 c.234C>T c.(232-234)gaC>gaT p.D78D PTCHD4_ENST00000339488.4_Silent_p.D95D Q6ZW05 CF138_HUMAN patched domain containing 4 95 integral to membrane hedgehog receptor activity TTTTGGACTGGTCCAGGGGGA 0.632000 30 71 0 0 1 0 0 SPTBN5 51332 broad.mit.edu 37 15 42149831 42149831 + Silent SNP G G C TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr15:42149831G>C ENST00000320955.6 - 50 8531 c.8304C>G c.(8302-8304)ctC>ctG p.L2768L NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 2768 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) GCTCACCCCAGAGTGCTCCCA 0.647000 5 10 0 0 1 0 0 FTO 79068 broad.mit.edu 37 16 53913760 53913760 + Nonsense_Mutation SNP C C G TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr16:53913760C>G ENST00000471389.1 + 6 1202 c.980C>G c.(979-981)tCa>tGa p.S327* FTO_ENST00000394647.3_Nonsense_Mutation_p.S31* NM_001080432.2 NP_001073901.1 Q9C0B1 FTO_HUMAN fat mass and obesity associated 327 Fe2OG dioxygenase domain. DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair nucleus DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 CAACAGTGCTCAACAGGAACC 0.413000 32 56 0 0 1 0 0 STX5 6811 broad.mit.edu 37 11 62591660 62591660 + Missense_Mutation SNP C C G TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr11:62591660C>G ENST00000294179.3 - 10 1039 c.886G>C c.(886-888)Gaa>Caa p.E296Q STX5_ENST00000541317.1_Missense_Mutation_p.E200Q|STX5_ENST00000377897.4_Missense_Mutation_p.E296Q|STX5_ENST00000394690.1_Missense_Mutation_p.E242Q NM_001244666.1|NM_003164.4 NP_001231595.1|NP_003155.2 Q13190 STX5_HUMAN syntaxin 5 296 t-SNARE coiled-coil homology. intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex protein N-terminus binding|SNAP receptor activity breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 18 TCCTCCTGTTCCTTAACCATG 0.507000 24 102 0 0 1 0 0 ZNF25 219749 broad.mit.edu 37 10 38246453 38246453 + Missense_Mutation SNP C C G TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr10:38246453C>G ENST00000302609.7 - 3 249 c.37G>C c.(37-39)Gtt>Ctt p.V13L ZNF25_ENST00000374633.1_5'UTR NM_145011.2 NP_659448.1 P17030 ZNF25_HUMAN zinc finger protein 25 13 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157) TCCACAATAACATCCTTTAAT 0.403000 6 71 0 0 1 0 0 MEF2A 4205 broad.mit.edu 37 15 100211533 100211533 + Missense_Mutation SNP A A T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr15:100211533A>T ENST00000338042.6 + 4 583 c.264A>T c.(262-264)ttA>ttT p.L88F MEF2A_ENST00000449277.2_Missense_Mutation_p.L20F|MEF2A_ENST00000354410.5_Intron|MEF2A_ENST00000558812.1_Missense_Mutation_p.L20F|MEF2A_ENST00000557942.1_Missense_Mutation_p.L88F|MEF2A_ENST00000453228.2_Missense_Mutation_p.L88F|MEF2A_ENST00000557785.1_Missense_Mutation_p.L88F Q02078 MEF2A_HUMAN myocyte enhancer factor 2A 88 apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development nuclear chromatin|nucleoplasm activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding endometrium(2)|large_intestine(2)|lung(7)|ovary(1) 12 Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00085) TTCAGACTTTAAGAAAGAAAG 0.378000 12 71 0 0 1 0 0 HCN4 10021 broad.mit.edu 37 15 73615004 73615004 + Missense_Mutation SNP C C T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr15:73615004C>T ENST00000261917.3 - 8 4423 c.3430G>A c.(3430-3432)Gcc>Acc p.A1144T NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 1144 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) CCGGGGATGGCACCATAGGGC 0.677000 8 15 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89405088 89405088 + RNA SNP C C T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr11:89405088C>T ENST00000532352.1 + 0 1028 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 CACCGGGACTCATGGGTGTTT 0.408000 23 29 0 0 1 0 0 SHANK1 50944 broad.mit.edu 37 19 51217438 51217438 + Splice_Site SNP C C T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr19:51217438C>T ENST00000293441.1 - 4 659 c.e4+1 SHANK1_ENST00000391814.1_Splice_Site|SHANK1_ENST00000359082.3_Splice_Site NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) CCCCTCCCTACCTCCCGAATC 0.597000 18 22 0 0 1 0 0 TMCO6 55374 broad.mit.edu 37 5 140021368 140021368 + Missense_Mutation SNP C C T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr5:140021368C>T ENST00000511410.1 + 3 392 c.317C>T c.(316-318)tCa>tTa p.S106L TMCO6_ENST00000252100.6_Intron|NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000537378.1_Intron|TMCO6_ENST00000394671.3_Intron Q96DC7 TMCO6_HUMAN transmembrane and coiled-coil domains 6 0 protein import into nucleus cytoplasm|nuclear pore binding|protein transporter activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCATCCGGTCAGTGTGGATG 0.597000 17 25 0 0 1 0 0 HIST1H3H 8357 broad.mit.edu 37 6 27778027 27778027 + Missense_Mutation SNP C C G TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr6:27778027C>G ENST00000369163.2 + 1 186 c.176C>G c.(175-177)aCc>aGc p.T59S NM_003536.2 NP_003527.1 P68431 H31_HUMAN histone cluster 1, H3h 59 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3) 10 CAGAAGTCCACCGAGCTGCTG 0.627000 15 50 0 0 1 0 0 GBF1 8729 broad.mit.edu 37 10 104140401 104140401 + Missense_Mutation SNP C C T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr10:104140401C>T ENST00000369983.3 + 38 5388 c.5128C>T c.(5128-5130)Cct>Tct p.P1710S NM_001199378.1|NM_001199379.1|NM_004193.2 NP_001186307.1|NP_001186308.1|NP_004184.1 Q92538 GBF1_HUMAN golgi brefeldin A resistant guanine nucleotide exchange factor 1 1710 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) CTGTTTTCTCCCTCACCTACG 0.572000 130 213 0 0 1 0 0 ANKRD44 91526 broad.mit.edu 37 2 197863748 197863748 + Missense_Mutation SNP C C T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr2:197863748C>T ENST00000328737.2 - 24 2549 c.2473G>A c.(2473-2475)Gat>Aat p.D825N ANKRD44_ENST00000337207.5_Missense_Mutation_p.D825N|ANKRD44_ENST00000282272.8_Missense_Mutation_p.D842N|ANKRD44_ENST00000450567.1_Missense_Mutation_p.D825N Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 850 protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) TCCACATGATCAGCAAATGCT 0.433000 19 16 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92532589 92532589 + Missense_Mutation SNP G G T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr11:92532589G>T ENST00000298047.6 + 9 6427 c.6410G>T c.(6409-6411)gGg>gTg p.G2137V FAT3_ENST00000409404.2_Missense_Mutation_p.G2137V|FAT3_ENST00000525166.1_Missense_Mutation_p.G1987V Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2137 Cadherin 19. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CCTAATTCAGGGAATGTTATT 0.418000 TCGA Ovarian(4;0.039) 7 9 5.68852e-11 6.01925e-11 1 1 0 AAK1 22848 broad.mit.edu 37 2 69759275 69759275 + Missense_Mutation SNP T T A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr2:69759275T>A ENST00000409085.4 - 6 930 c.554A>T c.(553-555)cAt>cTt p.H185L AAK1_ENST00000406297.3_Missense_Mutation_p.H185L|AAK1_ENST00000470281.1_5'UTR|AAK1_ENST00000409068.1_Missense_Mutation_p.H185L NM_014911.3 NP_055726.3 Q2M2I8 AAK1_HUMAN AP2 associated kinase 1 185 Protein kinase. coated pit|mitochondrion|plasma membrane ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1) 17 GCCTCGGTCATGCAAGAGGAT 0.418000 7 51 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141762944 141762944 + Silent SNP G G A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr2:141762944G>A ENST00000389484.3 - 15 3434 c.2463C>T c.(2461-2463)gcC>gcT p.A821A NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 821 EGF-like 3. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GTTGATTATCGGCACAAGCAC 0.443000 TSP Lung(27;0.18) 12 33 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64497902 64497902 + Nonsense_Mutation SNP A A T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr14:64497902A>T ENST00000358025.3 + 45 7278 c.7048A>T c.(7048-7050)Aag>Tag p.K2350* SYNE2_ENST00000554584.1_Nonsense_Mutation_p.K2350*|SYNE2_ENST00000357395.3_De_novo_Start_InFrame|SYNE2_ENST00000344113.4_Nonsense_Mutation_p.K2350* NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 2350 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TGCATCTGCTAAGCAGGAGAT 0.393000 130 71 0 0 1 0 0 ECT2 1894 broad.mit.edu 37 3 172473109 172473109 + Missense_Mutation SNP G G A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr3:172473109G>A ENST00000417960.1 + 4 629 c.152G>A c.(151-153)aGa>aAa p.R51K ECT2_ENST00000392692.3_Missense_Mutation_p.R52K|ECT2_ENST00000232458.5_Missense_Mutation_p.R52K|ECT2_ENST00000427830.1_Missense_Mutation_p.R52K|ECT2_ENST00000441497.2_Missense_Mutation_p.R52K|ECT2_ENST00000540509.1_Missense_Mutation_p.R52K NM_001258316.1 NP_001245245.1 Q9H8V3 ECT2_HUMAN epithelial cell transforming sequence 2 oncogene 52 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14) ATTGAAACAAGAGTGATATTG 0.318000 10 42 0 0 1 0 0 SLC4A8 9498 broad.mit.edu 37 12 51845919 51845919 + Nonsense_Mutation SNP C C T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr12:51845919C>T ENST00000453097.2 + 4 506 c.289C>T c.(289-291)Cag>Tag p.Q97* SLC4A8_ENST00000394856.1_Nonsense_Mutation_p.Q44*|SLC4A8_ENST00000358657.3_Nonsense_Mutation_p.Q124*|SLC4A8_ENST00000514353.3_Nonsense_Mutation_p.Q44*|SLC4A8_ENST00000535225.2_Nonsense_Mutation_p.Q44* NM_001039960.2|NM_001258401.2 NP_001035049.1|NP_001245330.1 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 8 97 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) CACACCATCTCAGCGTGTTCA 0.428000 43 84 0 0 1 0 0 GTSE1 51512 broad.mit.edu 37 22 46719097 46719097 + Silent SNP G G A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr22:46719097G>A ENST00000454366.1 + 8 1655 c.1443G>A c.(1441-1443)ccG>ccA p.P481P NM_016426.6 NP_057510.4 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 462 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 27 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) GTGACTCCCCGGACAGCTCAA 0.567000 4 127 0 0 1 0 0 DNAJC5 80331 broad.mit.edu 37 20 62560822 62560822 + Missense_Mutation SNP C C G TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr20:62560822C>G ENST00000360864.4 + 3 418 c.265C>G c.(265-267)Cag>Gag p.Q89E DNAJC5_ENST00000369911.2_Missense_Mutation_p.Q89E NM_025219.2 NP_079495.1 Q9H3Z4 DNJC5_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 89 neurotransmitter secretion|protein folding clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane heat shock protein binding|unfolded protein binding cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1) 5 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) CGTGGCCGAGCAGTTTGGGGA 0.592000 45 86 0 0 1 0 0 KAT2B 8850 broad.mit.edu 37 3 20142948 20142948 + Missense_Mutation SNP A A T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr3:20142948A>T ENST00000263754.4 + 5 1294 c.839A>T c.(838-840)gAg>gTg p.E280V NM_003884.4 NP_003875.3 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B 280 cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 40 GGATACAAAGAGAACTACACA 0.418000 22 33 0 0 1 0 0 NLN 57486 broad.mit.edu 37 5 65077120 65077120 + Missense_Mutation SNP G G A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr5:65077120G>A ENST00000380985.5 + 6 872 c.694G>A c.(694-696)Gaa>Aaa p.E232K NLN_ENST00000502464.1_Missense_Mutation_p.E128K NM_020726.4 NP_065777.1 Q9BYT8 NEUL_HUMAN neurolysin (metallopeptidase M3 family) 232 proteolysis mitochondrial intermembrane space metal ion binding|metalloendopeptidase activity central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616) TGACAGTTTAGAAAAGACAGA 0.338000 14 9 0 0 1 0 0 ZBTB3 79842 broad.mit.edu 37 11 62521470 62521470 + Missense_Mutation SNP C C G TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr11:62521470C>G ENST00000394807.3 - 1 190 c.65G>C c.(64-66)aGa>aCa p.R22T NM_024784.3 NP_079060.1 Q9H5J0 ZBTB3_HUMAN zinc finger and BTB domain containing 3 22 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2) 24 AAGTAGAGATCTTTTTCGCTC 0.622000 10 65 0 0 1 0 0 OR7A5 26659 broad.mit.edu 37 19 14938943 14938943 + Silent SNP G G C TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr19:14938943G>C ENST00000322301.3 - 2 198 c.111C>G c.(109-111)gtC>gtG p.V37V OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Silent_p.V37V Q15622 OR7A5_HUMAN olfactory receptor, family 7, subfamily A, member 5 37 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 CGAGCACAGTGACCAGGTACA 0.493000 19 38 0 0 1 0 0 C9orf91 203197 broad.mit.edu 37 9 117399281 117399281 + Silent SNP C C G TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr9:117399281C>G ENST00000374049.4 + 7 1037 c.600C>G c.(598-600)gtC>gtG p.V200V C9orf91_ENST00000288502.4_Silent_p.V199V NM_153045.3 NP_694590.2 Q5VZI3 CI091_HUMAN chromosome 9 open reading frame 91 199 integral to membrane endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1) 13 TTTGGTTTGTCTACTTCGACC 0.468000 33 21 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578190 7578190 + Missense_Mutation SNP T T C rs121912666 TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr17:7578190T>C ENST00000420246.2 - 6 791 c.659A>G c.(658-660)tAt>tGt p.Y220C TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 220 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and 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.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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) AGGCGGCTCATAGGGCACCAC 0.557000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 4 23 0 0 1 0 0 COL20A1 57642 broad.mit.edu 37 20 61957463 61957463 + Missense_Mutation SNP G G C TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr20:61957463G>C ENST00000422202.1 + 29 3507 c.3439G>C c.(3439-3441)Gag>Cag p.E1147Q COL20A1_ENST00000358894.6_Missense_Mutation_p.E1140Q|COL20A1_ENST00000326996.6_Missense_Mutation_p.E1172Q|COL20A1_ENST00000435874.1_Missense_Mutation_p.E1147Q Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 1140 Collagen-like 2. cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) GAGAGGCCTGGAGGGAACTGC 0.662000 32 61 0 0 1 0 0 CEP72 55722 broad.mit.edu 37 5 639244 639244 + Missense_Mutation SNP C C T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr5:639244C>T ENST00000264935.5 + 8 1337 c.1247C>T c.(1246-1248)aCg>aTg p.T416M CEP72_ENST00000444221.1_3'UTR NM_018140.3 NP_060610.2 Q9P209 CEP72_HUMAN centrosomal protein 72kDa 416 G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization centrosome|cytosol autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 20 Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863) GGGAAGAAGACGGCCCTGCAG 0.632000 17 132 0 0 1 0 0 A1CF 29974 broad.mit.edu 37 10 52595898 52595898 + Silent SNP G G A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr10:52595898G>A ENST00000395489.2 - 8 915 c.519C>T c.(517-519)ggC>ggT p.G173G A1CF_ENST00000373997.3_Silent_p.G180G|A1CF_ENST00000373993.1_Silent_p.G180G|A1CF_ENST00000374001.1_Silent_p.G180G|A1CF_ENST00000282641.2_Silent_p.G180G|A1CF_ENST00000373995.3_Silent_p.G188G|A1CF_ENST00000395495.1_Silent_p.G180G NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 180 RRM 2. cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 CGAAGGCAAAGCCTCGGTTTT 0.473000 20 43 0 0 1 0 0 ZDHHC9 51114 broad.mit.edu 37 X 128963075 128963075 + Silent SNP T T C TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chrX:128963075T>C ENST00000357166.6 - 4 601 c.210A>G c.(208-210)gtA>gtG p.V70V ZDHHC9_ENST00000371064.3_Silent_p.V70V NM_016032.3 NP_057116.2 Q9Y397 ZDHC9_HUMAN zinc finger, DHHC-type containing 9 70 endoplasmic reticulum membrane|Golgi membrane|integral to membrane acyltransferase activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1) 19 TGGCAGCAAATACAGGGATGG 0.498000 55 16 0 0 1 0 0 ATP6AP1 537 broad.mit.edu 37 X 153663828 153663828 + Missense_Mutation SNP C C G TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chrX:153663828C>G ENST00000369762.2 + 9 1241 c.1180C>G c.(1180-1182)Cag>Gag p.Q394E NM_001183.4 NP_001174.2 Q15904 VAS1_HUMAN ATPase, H+ transporting, lysosomal accessory protein 1 394 ATP hydrolysis coupled proton transport integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5) 14 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CTCTCCCTGGCAGATGATGCT 0.617000 8 48 0 0 1 0 0 PRDM2 7799 broad.mit.edu 37 1 14105784 14105784 + Missense_Mutation SNP G G C TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr1:14105784G>C ENST00000235372.7 + 8 2350 c.1494G>C c.(1492-1494)atG>atC p.M498I PRDM2_ENST00000343137.4_Missense_Mutation_p.M297I|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.M297I|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.M498I NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 498 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) ATACTAATATGAGACGGCATC 0.448000 15 34 0 0 1 0 0 SIGLEC9 27180 broad.mit.edu 37 19 51628875 51628875 + Missense_Mutation SNP T T A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr19:51628875T>A ENST00000440804.3 + 2 510 c.443T>A c.(442-444)aTc>aAc p.I148N SIGLEC9_ENST00000250360.3_Missense_Mutation_p.I148N NM_001198558.1 NP_001185487.1 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 148 Ig-like C2-type 1. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) AGGCCCAACATCCTCATCCCA 0.632000 66 94 0 0 1 0 0 IMPG2 50939 broad.mit.edu 37 3 100962873 100962873 + Missense_Mutation SNP G G A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr3:100962873G>A ENST00000193391.7 - 13 2489 c.2302C>T c.(2302-2304)Cca>Tca p.P768S NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 768 visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 TGCATATCTGGCTTTACCATT 0.403000 31 51 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9089884 9089884 + Missense_Mutation SNP G G A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr19:9089884G>A ENST00000397910.4 - 1 2134 c.1931C>T c.(1930-1932)aCg>aTg p.T644M NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 644 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GACACCGTTCGTGGCCAGAGT 0.562000 27 94 0 0 1 0 0 SOCS2 8835 broad.mit.edu 37 12 93968681 93968681 + Missense_Mutation SNP C C A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr12:93968681C>A ENST00000340600.2 + 3 921 c.323C>A c.(322-324)tCt>tAt p.S108Y SOCS2_ENST00000549122.1_Missense_Mutation_p.S108Y|SOCS2_ENST00000551556.1_Missense_Mutation_p.S108Y|SOCS2_ENST00000549206.1_Missense_Mutation_p.S108Y|SOCS2_ENST00000548537.1_3'UTR|SOCS2_ENST00000536696.2_Missense_Mutation_p.S108Y NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4 NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1 O14508 SOCS2_HUMAN suppressor of cytokine signaling 2 108 SH2. anti-apoptosis|growth hormone receptor signaling pathway|JAK-STAT cascade|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus cytoplasm growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1) 14 AGATTGGACTCTATCATATGT 0.398000 13 37 2.27111e-07 2.34853e-07 1 1 0 YTHDF2 51441 broad.mit.edu 37 1 29069845 29069845 + Missense_Mutation SNP C C T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr1:29069845C>T ENST00000373812.3 + 4 1425 c.1063C>T c.(1063-1065)Cgg>Tgg p.R355W YTHDF2_ENST00000542507.1_Missense_Mutation_p.R355W|YTHDF2_ENST00000541996.1_Missense_Mutation_p.R305W|YTHDF2_ENST00000478283.1_3'UTR NM_016258.2 NP_057342.2 Q9Y5A9 YTHD2_HUMAN YTH domain family, member 2 355 humoral immune response p.R355W(2) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) GGTAGCACCTCGGAACCGTGG 0.582000 41 103 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3819250 3819250 + Silent SNP C C T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr16:3819250C>T ENST00000262367.5 - 15 3794 c.2985G>A c.(2983-2985)ctG>ctA p.L995L CREBBP_ENST00000382070.3_Silent_p.L957L NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 995 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TCTTCATTTCCAGCACAGGTA 0.602000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 16 66 0 0 1 0 0 KIAA1737 85457 broad.mit.edu 37 14 77576214 77576214 + Missense_Mutation SNP G G A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr14:77576214G>A ENST00000361786.2 + 3 513 c.196G>A c.(196-198)Gcc>Acc p.A66T KIAA1737_ENST00000555611.1_Missense_Mutation_p.A66T|RP11-463C8.4_ENST00000557752.1_Intron|KIAA1737_ENST00000555437.1_Intron NM_033426.2 NP_219494.2 Q9C0C6 K1737_HUMAN KIAA1737 66 endometrium(2)|lung(4)|prostate(3) 9 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0284) CATGCTGAGCGCCTTAGGCTG 0.547000 41 74 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98503829 98503829 + Missense_Mutation SNP G G C TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr7:98503829G>C ENST00000359863.4 + 13 1275 c.1066G>C c.(1066-1068)Gat>Cat p.D356H TRRAP_ENST00000446306.3_Missense_Mutation_p.D356H|TRRAP_ENST00000355540.3_Missense_Mutation_p.D356H NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 356 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CAAGCTGTTTGATGAATCCAT 0.388000 12 135 0 0 1 0 0 ZNF181 339318 broad.mit.edu 37 19 35230525 35230525 + Splice_Site SNP A A T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr19:35230525A>T ENST00000392232.3 + 5 528 c.361_splice c.e5+1 p.P120_splice ZNF181_ENST00000492450.1_Splice_Site_p.P76_splice|ZNF181_ENST00000459757.1_Splice_Site_p.P75_splice Q2M3W8 ZN181_HUMAN zinc finger protein 181 76 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1) 22 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) GTATGATTCCAGGTGAGTCAT 0.398000 3 55 0 0 1 0 0 ALDH6A1 4329 broad.mit.edu 37 14 74538942 74538942 + Silent SNP G G C TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr14:74538942G>C ENST00000553458.1 - 4 410 c.312C>G c.(310-312)gtC>gtG p.V104V CCDC176_ENST00000553773.1_Intron|AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000350259.4_Intron|ALDH6A1_ENST00000556852.1_5'UTR NM_001278593.1|NM_005589.2 NP_001265522.1|NP_005580.1 Q02252 MMSA_HUMAN aldehyde dehydrogenase 6 family, member A1 104 mitochondrial matrix|nucleus fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3) 21 BRCA - Breast invasive adenocarcinoma(234;0.00354) NADH(DB00157) AGCGGAGCAAGACCTGCTGGC 0.463000 28 26 0 0 1 0 0 ICAM3 3385 broad.mit.edu 37 19 10444839 10444839 + Missense_Mutation SNP C C G TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr19:10444839C>G ENST00000589261.1 - 6 1739 c.1207G>C c.(1207-1209)Gag>Cag p.E403Q ICAM3_ENST00000160262.5_Missense_Mutation_p.E480Q P32942 ICAM3_HUMAN intercellular adhesion molecule 3 480 cell-cell adhesion|regulation of immune response integral to plasma membrane integrin binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 13 OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05) AGCTCACCCTCAATGTCCATC 0.572000 3 40 0 0 1 0 0 ARNT 405 broad.mit.edu 37 1 150785759 150785759 + Silent SNP C C T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr1:150785759C>T ENST00000358595.5 - 21 2369 c.2169G>A c.(2167-2169)gtG>gtA p.V723V ARNT_ENST00000515192.1_Silent_p.V709V|ARNT_ENST00000505755.1_Silent_p.V708V|ARNT_ENST00000354396.2_Silent_p.V721V NM_001197325.1|NM_001668.3|NM_178427.2 NP_001184254.1|NP_001659.1|NP_848514.1 P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator 723 Gln-rich. positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1) 34 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) GCCAGACACCCACACCCTCTG 0.522000 T ETV6 AML OREG0013788 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 93 0 0 1 0 0 KLHL4 56062 broad.mit.edu 37 X 86919900 86919900 + Missense_Mutation SNP G G C TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chrX:86919900G>C ENST00000373119.4 + 10 2207 c.2062G>C c.(2062-2064)Gag>Cag p.E688Q KLHL4_ENST00000373114.4_Missense_Mutation_p.E688Q NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 688 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 GAACACAGTTGAGTCATATGA 0.353000 21 10 0 0 1 0 0 PPP2R5A 5525 broad.mit.edu 37 1 212530321 212530321 + Silent SNP C C T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr1:212530321C>T ENST00000261461.2 + 10 1582 c.1008C>T c.(1006-1008)atC>atT p.I336I PPP2R5A_ENST00000537030.3_Silent_p.I279I NM_006243.3 NP_006234.1 Q15172 2A5A_HUMAN protein phosphatase 2, regulatory subunit B', alpha 336 negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex kinase binding|protein phosphatase type 2A regulator activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1) 16 OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155) TTGAAGAAATCTTAGATGTCA 0.289000 5 18 0 0 1 0 0 NFE2L3 9603 broad.mit.edu 37 7 26224794 26224794 + Silent SNP A A G TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr7:26224794A>G ENST00000056233.3 + 4 1735 c.1476A>G c.(1474-1476)caA>caG p.Q492Q NM_004289.6 NP_004280.5 Q9Y4A8 NF2L3_HUMAN nuclear factor, erythroid 2-like 3 492 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7) 29 TTACATTTCAACACGTATTTC 0.433000 38 61 0 0 1 0 0 DYNC1I1 1780 broad.mit.edu 37 7 95705417 95705417 + Missense_Mutation SNP G G A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr7:95705417G>A ENST00000324972.6 + 15 1802 c.1609G>A c.(1609-1611)Gat>Aat p.D537N DYNC1I1_ENST00000537881.1_Missense_Mutation_p.D500N|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.D500N|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.D520N|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.D517N|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.D520N NM_004411.4 NP_004402.1 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 537 vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 54 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) CTATGTGTACGATGTCATGTG 0.572000 OREG0018174 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 214 0 0 1 0 0 PPIL4 85313 broad.mit.edu 37 6 149862095 149862095 + Missense_Mutation SNP C C T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr6:149862095C>T ENST00000253329.2 - 4 336 c.304G>A c.(304-306)Gat>Aat p.D102N NM_139126.3 NP_624311.1 Q8WUA2 PPIL4_HUMAN peptidylprolyl isomerase (cyclophilin)-like 4 102 PPIase cyclophilin-type. protein folding nucleus nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1) 13 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885) CCATGTTGATCACTGCCATTA 0.393000 25 42 0 0 1 0 0 CTSG 1511 broad.mit.edu 37 14 25043673 25043673 + Silent SNP C C T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr14:25043673C>T ENST00000216336.2 - 4 408 c.372G>A c.(370-372)gtG>gtA p.V124V NM_001911.2 NP_001902.1 P08311 CATG_HUMAN cathepsin G 124 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(265;0.0269) CCACTGGGTTCACGTTTCGAT 0.637000 27 97 0 0 1 0 0 HDGFRP2 84717 broad.mit.edu 37 19 4499511 4499511 + Silent SNP G G A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr19:4499511G>A ENST00000301284.4 + 14 1663 c.1599G>A c.(1597-1599)aaG>aaA p.K533K HDGFRP2_ENST00000586684.1_Silent_p.K533K NM_001001520.1|NM_032631.2 NP_001001520.1|NP_116020.1 Q7Z4V5 HDGR2_HUMAN 533 transcription, DNA-dependent nucleus DNA binding|protein binding AAGCGAACAAGGACGTAATGG 0.607000 6 15 0 0 1 0 0 LMOD1 25802 broad.mit.edu 37 1 201869122 201869122 + Nonsense_Mutation SNP G G C TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr1:201869122G>C ENST00000367288.4 - 2 1265 c.1019C>G c.(1018-1020)tCa>tGa p.S340* NM_012134.2 NP_036266.2 P29536 LMOD1_HUMAN leiomodin 1 (smooth muscle) 340 muscle contraction cytoskeleton|cytosol|membrane fraction tropomyosin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 GATGCAGTCTGAGTTGTTGAC 0.527000 9 25 0 0 1 0 0 GBA3 57733 broad.mit.edu 37 4 22694613 22694613 + RNA SNP G G A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr4:22694613G>A ENST00000508166.1 + 0 77 GBA3_ENST00000503442.1_RNA NM_020973.4 NP_066024.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 GGCAGCTGAAGATCCCAGTAG 0.507000 4 15 0 0 1 0 0 ZNHIT2 741 broad.mit.edu 37 11 64884705 64884705 + Missense_Mutation SNP C C G TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr11:64884705C>G ENST00000310597.4 - 1 465 c.421G>C c.(421-423)Gag>Cag p.E141Q AP003068.12_ENST00000527789.1_RNA NM_014205.2 NP_055020.1 Q9UHR6 ZNHI2_HUMAN zinc finger, HIT-type containing 2 141 metal ion binding breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1) 6 TCCAGCTCCTCCAGAAGCTGC 0.716000 4 21 0 0 1 0 0 RIN3 79890 broad.mit.edu 37 14 93119130 93119130 + Missense_Mutation SNP G G T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr14:93119130G>T ENST00000216487.7 + 6 1895 c.1736G>T c.(1735-1737)cGg>cTg p.R579L RIN3_ENST00000418924.2_3'UTR NM_024832.3 NP_079108.3 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 579 endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 all_cancers(154;0.0701) GGCAAGGCTCGGCACCGGCTG 0.597000 15 107 6.49762e-13 6.99744e-13 1 1 0 SLC2A5 6518 broad.mit.edu 37 1 9097783 9097783 + Silent SNP G G T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr1:9097783G>T ENST00000377424.4 - 12 1547 c.1368C>A c.(1366-1368)atC>atA p.I456I SLC2A5_ENST00000535586.1_Silent_p.I341I|SLC2A5_ENST00000536305.1_Silent_p.I397I NM_003039.2 NP_003030.1 P22732 GTR5_HUMAN solute carrier family 2 (facilitated glucose/fructose transporter), member 5 456 carbohydrate metabolic process integral to membrane|plasma membrane fructose transmembrane transporter activity|glucose transmembrane transporter activity endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1) 36 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) CAATCAAGAAGATGTAGATGG 0.542000 33 79 3.03874e-20 3.33163e-20 1 1 0 OLFML2B 25903 broad.mit.edu 37 1 161953740 161953740 + Missense_Mutation SNP T T C TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr1:161953740T>C ENST00000294794.3 - 8 2401 c.1978A>G c.(1978-1980)Aag>Gag p.K660E OLFML2B_ENST00000367940.2_Missense_Mutation_p.K661E|OLFML2B_ENST00000367938.1_Missense_Mutation_p.K143E NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 660 Olfactomedin-like. breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) GTGGTCTCCTTCTGTGTGCTC 0.587000 14 61 0 0 1 0 0 ZNF326 284695 broad.mit.edu 37 1 90484319 90484319 + Missense_Mutation SNP A A G TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr1:90484319A>G ENST00000340281.4 + 9 1293 c.1150A>G c.(1150-1152)Ata>Gta p.I384V ZNF326_ENST00000455342.2_Missense_Mutation_p.I178V|ZNF326_ENST00000370447.2_Missense_Mutation_p.I295V NM_182976.2 NP_892021.1 Q5BKZ1 ZN326_HUMAN zinc finger protein 326 384 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix DNA binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1) 25 all_lung(203;0.0116)|Lung NSC(277;0.0417) all cancers(265;0.00728)|Epithelial(280;0.0265) AGTAGTTAAAATAATTGAAAA 0.229000 13 26 0 0 1 0 0 SGMS1-AS1 104355295 broad.mit.edu 37 10 52389598 52389598 + RNA SNP C C T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr10:52389598C>T ENST00000443374.1 + 0 291 GAATGTGAGTCTGAGTCTTTG 0.463000 12 16 0 0 1 0 0 ABCA1 19 broad.mit.edu 37 9 107599734 107599734 + Missense_Mutation SNP G G A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr9:107599734G>A ENST00000374736.3 - 10 1563 c.1169C>T c.(1168-1170)cCa>cTa p.P390L NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 390 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) CCTTGTGGCTGGAGTGTCAGG 0.527000 21 18 0 0 1 0 0 KRT28 162605 broad.mit.edu 37 17 38955842 38955842 + Missense_Mutation SNP C C T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr17:38955842C>T ENST00000306658.7 - 1 369 c.304G>A c.(304-306)Gat>Aat p.D102N NM_181535.3 NP_853513.2 Q7Z3Y7 K1C28_HUMAN keratin 28 102 Coil 1A.|Rod. cytoplasm|intermediate filament structural molecule activity NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Breast(137;0.000301) CGCACATTATCCAGGTAGGAT 0.473000 22 78 0 0 1 0 0 ZDHHC19 131540 broad.mit.edu 37 3 195936327 195936327 + Missense_Mutation SNP G G A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr3:195936327G>A ENST00000296326.3 - 3 407 c.328C>T c.(328-330)Cgc>Tgc p.R110C ZDHHC19_ENST00000488508.1_5'UTR NM_001039617.1 NP_001034706.1 Q8WVZ1 ZDH19_HUMAN zinc finger, DHHC-type containing 19 110 integral to membrane acyltransferase activity|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3) 14 all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0022) CATTGCAGGCGGAAGGCCCCG 0.652000 5 21 0 0 1 0 0 DTX4 23220 broad.mit.edu 37 11 58940169 58940169 + Missense_Mutation SNP T T A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr11:58940169T>A ENST00000227451.3 + 1 205 c.101T>A c.(100-102)gTc>gAc p.V34D DTX4_ENST00000532982.1_Intron NM_015177.1 NP_055992.1 Q9Y2E6 DTX4_HUMAN deltex homolog 4 (Drosophila) 34 WWE 1. Notch signaling pathway cytoplasm zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 20 all_epithelial(135;0.125) GAGGCGGTGGTccgcgccggc 0.706000 4 14 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38950665 38950665 + Silent SNP G G A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr3:38950665G>A ENST00000302328.3 - 9 1320 c.1122C>T c.(1120-1122)ctC>ctT p.L374L SCN11A_ENST00000444237.2_Silent_p.L374L|SCN11A_ENST00000450244.1_Silent_p.L374L|SCN11A_ENST00000456224.3_Silent_p.L374L NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 374 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) AGACTGAGTAGAGCCCAGTAG 0.458000 4 67 0 0 1 0 0 KCNK18 338567 broad.mit.edu 37 10 118969450 118969450 + Silent SNP C C T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr10:118969450C>T ENST00000334549.1 + 3 795 c.795C>T c.(793-795)atC>atT p.I265I NM_181840.1 NP_862823.1 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 265 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 41 Colorectal(252;0.19) all cancers(201;0.0211) CATACTCCATCATCAGCAACC 0.517000 15 55 0 0 1 0 0 GPR125 166647 broad.mit.edu 37 4 22390434 22390434 + Missense_Mutation SNP C C T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr4:22390434C>T ENST00000334304.5 - 19 3129 c.2860G>A c.(2860-2862)Gag>Aag p.E954K GPR125_ENST00000282943.5_5'UTR NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 954 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) TCCGTGGGCTCCTTAAGCTCA 0.428000 10 66 0 0 1 0 0 HLA-DRB6 3128 broad.mit.edu 37 6 32522722 32522722 + RNA SNP C C A rs114905475 by1000genomes TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr6:32522722C>A ENST00000411500.1 - 0 484 NR_001298.1 TGGGTCTTTGCAGGATACACA 0.488000 5 22 0.00116845 0.0011947 1 1 0 SNX21 90203 broad.mit.edu 37 20 44463731 44463731 + Silent SNP C C T rs141490712 byFrequency TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr20:44463731C>T ENST00000372542.1 + 2 708 c.396C>T c.(394-396)gtC>gtT p.V132V SNX21_ENST00000372541.1_Silent_p.V132V|SNX21_ENST00000462307.1_Silent_p.V141V|SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Silent_p.V141V|SNX21_ENST00000491381.1_Silent_p.V141V Q969T3 SNX21_HUMAN sorting nexin family member 21 141 PX. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1) 7 Myeloproliferative disorder(115;0.0122) CTAACGTTGTCAAGGACCCGC 0.592000 11 46 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91133664 91133664 + Missense_Mutation SNP G G A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chrX:91133664G>A ENST00000373094.1 + 2 3270 c.2425G>A c.(2425-2427)Gac>Aac p.D809N PCDH11X_ENST00000395337.2_Missense_Mutation_p.D809N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D809N|PCDH11X_ENST00000504220.1_Missense_Mutation_p.D809N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D809N|PCDH11X_ENST00000361724.1_Missense_Mutation_p.D809N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D809N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.D809N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D809N NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 809 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 ACCAACTAGTGACTATGTCAA 0.468000 46 13 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27099395 27099395 + Missense_Mutation SNP A A G TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr1:27099395A>G ENST00000324856.7 + 14 4003 c.3632A>G c.(3631-3633)tAt>tGt p.Y1211C ARID1A_ENST00000457599.2_Missense_Mutation_p.Y1211C|ARID1A_ENST00000374152.2_Missense_Mutation_p.Y828C NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1211 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) AACCCTGGGTATCAGCCCAGT 0.488000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 12 34 0 0 1 0 0 SNRNP35 11066 broad.mit.edu 37 12 123950460 123950460 + Missense_Mutation SNP G G T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr12:123950460G>T ENST00000526639.2 + 2 952 c.373G>T c.(373-375)Gac>Tac p.D125Y SNRNP35_ENST00000412157.2_Missense_Mutation_p.D130Y|SNRNP35_ENST00000350887.5_Missense_Mutation_p.D125Y|SNRNP35_ENST00000527158.2_Intron NM_022717.2 NP_073208.1 Q16560 U1SBP_HUMAN small nuclear ribonucleoprotein 35kDa (U11/U12) 125 RRM. mRNA processing U12-type spliceosomal complex nucleotide binding|RNA binding NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 8 GATATTTGTGGACTACGAGCT 0.532000 40 63 3.61848e-18 3.94349e-18 1 1 0 CNOT11 55571 broad.mit.edu 37 2 101869656 101869656 + Missense_Mutation SNP A A T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr2:101869656A>T ENST00000289382.3 + 1 393 c.230A>T c.(229-231)gAg>gTg p.E77V NM_017546.4 NP_060016.3 CCR4-NOT transcription complex, subunit 11 ATCATATCGGAGGAGGCGGGC 0.706000 7 13 0 0 1 0 0 ZNF770 54989 broad.mit.edu 37 15 35275437 35275437 + Missense_Mutation SNP G G C TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr15:35275437G>C ENST00000356321.4 - 3 543 c.199C>G c.(199-201)Cta>Gta p.L67V NM_014106.3 NP_054825.2 Q6IQ21 ZN770_HUMAN zinc finger protein 770 67 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1) 29 Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09) all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643) AGATGAACTAGTTGTCTAAAG 0.363000 11 32 0 0 1 0 0 RREB1 6239 broad.mit.edu 37 6 7230870 7230870 + Missense_Mutation SNP G G T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr6:7230870G>T ENST00000379938.2 + 10 3075 c.2538G>T c.(2536-2538)gaG>gaT p.E846D RREB1_ENST00000379933.3_Missense_Mutation_p.E846D|RREB1_ENST00000334984.6_Missense_Mutation_p.E846D|RREB1_ENST00000349384.6_Missense_Mutation_p.E846D NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 846 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) GGCGCGGGGAGGACAGTGGCT 0.711000 11 15 1.11149e-13 1.20411e-13 1 1 0 NLRP14 338323 broad.mit.edu 37 11 7064875 7064875 + Missense_Mutation SNP C C G TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr11:7064875C>G ENST00000299481.4 + 4 1964 c.1618C>G c.(1618-1620)Cga>Gga p.R540G NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 540 cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) GAATGAAGATCGAGTAAAACA 0.348000 9 46 0 0 1 0 0 RPRD1A 55197 broad.mit.edu 37 18 33607167 33607167 + Missense_Mutation SNP G G T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr18:33607167G>T ENST00000399022.4 - 5 764 c.593C>A c.(592-594)tCt>tAt p.S198Y RPRD1A_ENST00000588737.1_Missense_Mutation_p.S162Y|RPRD1A_ENST00000590898.1_Missense_Mutation_p.S162Y|RPRD1A_ENST00000319040.6_Missense_Mutation_p.S198Y|RPRD1A_ENST00000337059.5_Missense_Mutation_p.S162Y|RPRD1A_ENST00000357384.4_Missense_Mutation_p.S198Y NM_018170.3 NP_060640.2 Q96P16 RPR1A_HUMAN regulation of nuclear pre-mRNA domain containing 1A 198 NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2) 12 ATCTAATAGAGATACTTCTTG 0.373000 19 49 2.35188e-11 2.50317e-11 1 1 0 CROCCP2 84809 broad.mit.edu 37 1 16945765 16945765 + RNA SNP C C A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr1:16945765C>A ENST00000412962.1 - 0 1754 GGCACAACGGCAGTCACAAGA 0.562000 6 26 0.00621372 0.00628276 1 1 0 EFR3A 23167 broad.mit.edu 37 8 132991143 132991143 + Missense_Mutation SNP C C G TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr8:132991143C>G ENST00000254624.5 + 13 1601 c.1376C>G c.(1375-1377)tCt>tGt p.S459C EFR3A_ENST00000519656.1_Missense_Mutation_p.S423C|EFR3A_ENST00000334503.4_Missense_Mutation_p.S459C NM_015137.4 NP_055952.2 Q14156 EFR3A_HUMAN EFR3 homolog A (S. cerevisiae) 459 plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2) 35 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) CTGCCAGGGTCTTTCCTGGAT 0.418000 48 151 0 0 1 0 0 DNMT1 1786 broad.mit.edu 37 19 10262217 10262217 + Missense_Mutation SNP G G A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr19:10262217G>A ENST00000340748.4 - 23 2309 c.2074C>T c.(2074-2076)Ccc>Tcc p.P692S DNMT1_ENST00000540357.1_Missense_Mutation_p.P692S|DNMT1_ENST00000359526.4_Missense_Mutation_p.P708S P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 692 Required for activity. chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) GCCATATTGGGACACCTGCAA 0.483000 30 110 0 0 1 0 0 MEGF8 1954 broad.mit.edu 37 19 42839203 42839203 + Missense_Mutation SNP G G A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr19:42839203G>A ENST00000334370.4 + 4 1210 c.575G>A c.(574-576)cGc>cAc p.R192H MEGF8_ENST00000251268.6_Missense_Mutation_p.R192H NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 192 EGF-like 2. integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) GGACCATGCCGCTGTGAGCCT 0.592000 3 25 0 0 1 0 0 SPA17 53340 broad.mit.edu 37 11 124564308 124564308 + Missense_Mutation SNP G G A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr11:124564308G>A ENST00000532692.1 + 4 1843 c.422G>A c.(421-423)aGt>aAt p.S141N SPA17_ENST00000227135.2_Missense_Mutation_p.S141N|SPA17_ENST00000524614.1_3'UTR|SIAE_ENST00000525730.1_5'UTR Q15506 SP17_HUMAN sperm autoantigenic protein 17 141 IQ. binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis cytoplasm|flagellum|membrane|motile cilium|primary cilium cAMP-dependent protein kinase regulator activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 5 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223) AAAACAAATAGTCTTCAAAAT 0.393000 33 36 0 0 1 0 0 JMJD7-PLA2G4B 8681 broad.mit.edu 37 15 42137412 42137412 + Missense_Mutation SNP C C A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr15:42137412C>A ENST00000382448.4 + 19 1953 c.1944C>A c.(1942-1944)caC>caA p.H648Q PLA2G4B_ENST00000452633.1_Missense_Mutation_p.H417Q|JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.H417Q|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.H648Q NM_005090.3 NP_005081.1 P0C869 PA24B_HUMAN 417 PLA2c. arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition cytosol|early endosome membrane|extracellular region|mitochondrial membrane calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2) 25 CCCATGATCACAAGCTCTCAG 0.597000 10 20 9.70103e-10 1.02057e-09 1 1 0 LGALS8 3964 broad.mit.edu 37 1 236706280 236706280 + Missense_Mutation SNP T T G TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr1:236706280T>G ENST00000526589.1 + 11 1135 c.615T>G c.(613-615)gaT>gaG p.D205E LGALS8_ENST00000341872.6_Intron|LGALS8_ENST00000416919.2_Missense_Mutation_p.D146E|LGALS8_ENST00000525042.1_Missense_Mutation_p.D146E|LGALS8_ENST00000450372.2_Missense_Mutation_p.D205E|RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000366584.4_Intron|LGALS8_ENST00000352231.2_Missense_Mutation_p.D205E|LGALS8_ENST00000323938.6_Intron|LGALS8_ENST00000527974.1_Missense_Mutation_p.D205E|LGALS8_ENST00000526634.1_Intron O00214 LEG8_HUMAN lectin, galactoside-binding, soluble, 8 183 Galectin 2. cytoplasm|extracellular space sugar binding kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5) 20 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.0253)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00117) AGAGCAAAGATTCGACTGTCA 0.378000 11 65 0 0 1 0 0 MYO7A 4647 broad.mit.edu 37 11 76877187 76877187 + Silent SNP C C A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr11:76877187C>A ENST00000409709.3 + 15 2048 c.1776C>A c.(1774-1776)atC>atA p.I592I MYO7A_ENST00000409893.1_Silent_p.I592I|MYO7A_ENST00000409619.2_Silent_p.I581I|MYO7A_ENST00000458637.2_Silent_p.I592I NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 592 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 TCAAGCAGATCTTCCAGGCCG 0.587000 18 15 3.32936e-07 3.42341e-07 1 1 0 GPR125 166647 broad.mit.edu 37 4 22390433 22390433 + Missense_Mutation SNP T T A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr4:22390433T>A ENST00000334304.5 - 19 3130 c.2861A>T c.(2860-2862)gAg>gTg p.E954V GPR125_ENST00000282943.5_5'UTR NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 954 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) CTCCGTGGGCTCCTTAAGCTC 0.423000 10 67 0 0 1 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587657 43587657 + RNA SNP C C T rs148404065 by1000genomes TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr17:43587657C>T ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GGTGACAACACATCTGTTTTA 0.323000 4 62 0 0 1 0 0 C1orf87 127795 broad.mit.edu 37 1 60456431 60456431 + Missense_Mutation SNP G G C TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr1:60456431G>C ENST00000371201.3 - 12 1662 c.1555C>G c.(1555-1557)Cag>Gag p.Q519E C1orf87_ENST00000395552.1_Missense_Mutation_p.Q153E|C1orf87_ENST00000450089.2_Missense_Mutation_p.Q290E|C1orf87_ENST00000486478.1_5'UTR NM_152377.2 NP_689590.1 Q8N0U7 CA087_HUMAN chromosome 1 open reading frame 87 519 calcium ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 TCGATTTTCTGAGGGCTCAGG 0.493000 49 355 0 0 1 0 0 EBF1 1879 broad.mit.edu 37 5 158141128 158141128 + Missense_Mutation SNP G G C TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr5:158141128G>C ENST00000313708.6 - 12 1470 c.1188C>G c.(1186-1188)aaC>aaG p.N396K EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.N365K|EBF1_ENST00000517373.1_Missense_Mutation_p.N388K NM_024007.3 NP_076870.1 Q9UH73 COE1_HUMAN early B-cell factor 1 396 multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CGCTCACCTGGTTGTTGTGTG 0.448000 T HMGA2 lipoma 18 75 0 0 1 0 0 IL6 3569 broad.mit.edu 37 7 22768412 22768412 + Missense_Mutation SNP C C G TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr7:22768412C>G ENST00000404625.1 + 4 770 c.311C>G c.(310-312)tCt>tGt p.S104C IL6_ENST00000401630.3_Missense_Mutation_p.S81C|IL6_ENST00000258743.5_Missense_Mutation_p.S104C|IL6_ENST00000406575.1_Missense_Mutation_p.S104C|IL6_ENST00000401651.1_Missense_Mutation_p.S28C|IL6_ENST00000420258.2_Missense_Mutation_p.S158C|IL6_ENST00000407492.1_Missense_Mutation_p.S28C P05231 IL6_HUMAN interleukin 6 (interferon, beta 2) 104 acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan extracellular space|interleukin-6 receptor complex cytokine activity|growth factor activity|interleukin-6 receptor binding breast(1)|endometrium(2)|large_intestine(4)|lung(1) 8 Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641) TGCTTCCAATCTGGATTCAAT 0.428000 13 24 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86088559 86088559 + Missense_Mutation SNP A A T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr14:86088559A>T ENST00000330753.4 + 2 1468 c.701A>T c.(700-702)gAa>gTa p.E234V FLRT2_ENST00000554746.1_Missense_Mutation_p.E234V NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 234 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) AAGCTCAAGGAATTTTCAATT 0.512000 47 65 0 0 1 0 0 YTHDF2 51441 broad.mit.edu 37 1 29069499 29069499 + Nonsense_Mutation SNP G G A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr1:29069499G>A ENST00000373812.3 + 4 1079 c.717G>A c.(715-717)tgG>tgA p.W239* YTHDF2_ENST00000542507.1_Nonsense_Mutation_p.W239*|YTHDF2_ENST00000541996.1_Nonsense_Mutation_p.W189*|YTHDF2_ENST00000478283.1_3'UTR NM_016258.2 NP_057342.2 Q9Y5A9 YTHD2_HUMAN YTH domain family, member 2 239 humoral immune response NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) CAGCATCTTGGGCTGATATTG 0.488000 51 103 0 0 1 0 0 DHX57 90957 broad.mit.edu 37 2 39090566 39090566 + Missense_Mutation SNP T T A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr2:39090566T>A ENST00000295373.6 - 3 446 c.320A>T c.(319-321)aAt>aTt p.N107I DHX57_ENST00000479345.2_5'UTR NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 107 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) TTTCTCTTGATTCTCAGAAGT 0.393000 44 52 0 0 1 0 0 ALDH6A1 4329 broad.mit.edu 37 14 74539000 74539000 + Missense_Mutation SNP G G A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr14:74539000G>A ENST00000553458.1 - 4 352 c.254C>T c.(253-255)tCc>tTc p.S85F CCDC176_ENST00000553773.1_Intron|AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.S85F|ALDH6A1_ENST00000556852.1_5'UTR NM_001278593.1|NM_005589.2 NP_001265522.1|NP_005580.1 Q02252 MMSA_HUMAN aldehyde dehydrogenase 6 family, member A1 85 mitochondrial matrix|nucleus fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3) 21 BRCA - Breast invasive adenocarcinoma(234;0.00354) NADH(DB00157) ACGTTTGCAGGAAGCAATGGC 0.483000 19 22 0 0 1 0 0 MROH8 140699 broad.mit.edu 37 20 35748155 35748155 + Silent SNP G G C TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr20:35748155G>C ENST00000400441.3 - 18 2315 c.2316C>G c.(2314-2316)ctC>ctG p.L772L MROH8_ENST00000441008.2_Silent_p.L758L|MROH8_ENST00000217333.8_Silent_p.L601L maestro heat-like repeat family member 8 GAATTCTAAAGAGATGATTTC 0.488000 14 61 0 0 1 0 0 KDM6A 7403 broad.mit.edu 37 X 44918553 44918553 + Nonsense_Mutation SNP C C T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chrX:44918553C>T ENST00000377967.4 + 12 1077 c.1036C>T c.(1036-1038)Caa>Taa p.Q346* KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Q346*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Q346*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Q346* NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 346 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6)|p.0(2) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 TTGTGCTGTACAATTGGACCA 0.433000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 24 10 0 0 1 0 0 CATSPERB 79820 broad.mit.edu 37 14 92058278 92058278 + Missense_Mutation SNP C C G TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr14:92058278C>G ENST00000256343.3 - 23 2934 c.2778G>C c.(2776-2778)caG>caC p.Q926H NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 926 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) GTGAAAACTTCTGATCCTTTG 0.363000 23 71 0 0 1 0 0 SLC2A4 6517 broad.mit.edu 37 17 7189832 7189832 + Nonsense_Mutation SNP C C T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr17:7189832C>T ENST00000317370.8 + 11 1682 c.1414C>T c.(1414-1416)Cga>Tga p.R472* NM_001042.2 NP_001033.1 P14672 GTR4_HUMAN solute carrier family 2 (facilitated glucose transporter), member 4 472 carbohydrate metabolic process|glucose homeostasis|glucose import external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm D-glucose transmembrane transporter activity|protein binding breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 ACCTGAAACTCGAGGCCGGAC 0.542000 69 296 0 0 1 0 0 DCHS1 8642 broad.mit.edu 37 11 6648162 6648162 + Silent SNP G G C TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr11:6648162G>C ENST00000299441.3 - 14 6519 c.6108C>G c.(6106-6108)ctC>ctG p.L2036L NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 2036 Cadherin 19. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCACAATGAAGAGGACACGAT 0.607000 10 34 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1093644 1093644 + Missense_Mutation SNP G G A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr11:1093644G>A ENST00000359061.5 + 32 5331 c.5331G>A c.(5329-5331)acG>acA p.1777_1777insT MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Silent_p.T109T|MUC2_ENST00000441003.2_Silent_p.T1821T Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 0 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CCACCACTACGGTGACCCCAA 0.612000 45 76 0 0 1 0 0 HSPA1L 3305 broad.mit.edu 37 6 31778361 31778361 + Silent SNP C C T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr6:31778361C>T ENST00000375654.4 - 2 1578 c.1389G>A c.(1387-1389)ctG>ctA p.L463L HSPA1L_ENST00000417199.3_Silent_p.L463L NM_005527.3 NP_005518.3 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 463 response to unfolded protein ATP binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 GGATTCCAGTCAGGTCAAACC 0.552000 40 76 0 0 1 0 0 NUP133 55746 broad.mit.edu 37 1 229606349 229606349 + Missense_Mutation SNP G G A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr1:229606349G>A ENST00000261396.3 - 15 2145 c.2054C>T c.(2053-2055)cCt>cTt p.P685L NUP133_ENST00000537506.1_Missense_Mutation_p.P669L|NUP133_ENST00000366679.1_Missense_Mutation_p.P685L NM_018230.2 NP_060700.2 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 685 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4) 56 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) GACATCTGCAGGAGTCAGGTT 0.468000 28 62 0 0 1 0 0 MAST2 23139 broad.mit.edu 37 1 46494559 46494559 + Frame_Shift_Del DEL T T - TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr1:46494559delT ENST00000361297.2 + 18 2455 c.2172delT c.(2170-2172)ccfs p.P724fs MAST2_ENST00000372008.1_Frame_Shift_Del_p.P609fs|MAST2_ENST00000372009.2_Frame_Shift_Del_p.P654fs NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 724 Protein kinase. 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) GCTGCGTCCCTTTTTTTGGAG 0.552 7 491 --- --- --- --- LPAL2 80350 broad.mit.edu 37 6 160914198 160914198 + RNA DEL T T - rs72564692 TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr6:160914198delT ENST00000335388.5 - 0 326 NR_028092.1 large_intestine(1)|lung(4) 5 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) AGATTTTAACTTTTTTTTTTA 0.348 2 4 --- --- --- --- KLHL38 340359 broad.mit.edu 37 8 124664564 124664565 + Frame_Shift_Del DEL CA CA - TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr8:124664564_124664565delCA ENST00000325995.7 - 1 625_626 c.602_603delTG c.(601-603)afs p.M201fs CTD-2552K11.2_ENST00000524355.1_RNA NM_001081675.2 NP_001075144.2 Q2WGJ6 KLH38_HUMAN kelch-like family member 38 201 BACK. breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1) 38 TGATCCAAACCATGAGGGCCTC 0.559 35 90 --- --- --- --- TG 7038 broad.mit.edu 37 8 134024224 134024225 + Frame_Shift_Ins INS - - T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr8:134024224_134024225insT ENST00000220616.4 + 36 6381_6382 c.6341_6342insT c.(6340-6342)cgtfs p.R2114fs TG_ENST00000522523.1_3'UTR|TG_ENST00000519543.1_Frame_Shift_Ins_p.R247fs|TG_ENST00000542445.1_Frame_Shift_Ins_p.R484fs|TG_ENST00000377869.1_Frame_Shift_Ins_p.R2057fs NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 2114 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GATGTTGCCCATGTCAGCACTG 0.540 571 93 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21971096 21971096 + Frame_Shift_Del DEL C C - rs121913384 TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr9:21971096delC ENST00000579755.1 - 2 597 c.305delG c.(304-306)gafs p.G103fs RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.G144fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.E88fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.E88fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.G103fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.E88fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.E88fs P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 0 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) AGGAAGCCCTCCCGGGCAGCG 0.756 E88*(CAL33_UPPER_AERODIGESTIVE_TRACT) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 29 15 --- --- --- --- DUSP16 80824 broad.mit.edu 37 12 12630855 12630856 + Frame_Shift_Ins INS - - T TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr12:12630855_12630856insT ENST00000228862.2 - 7 1540_1541 c.909_910insA c.(907-912)ggcatcfs p.I304fs DUSP16_ENST00000545864.1_5'UTR|DUSP16_ENST00000298573.4_3'UTR NM_030640.2 NP_085143.1 Q9BY84 DUS16_HUMAN dual specificity phosphatase 16 304 inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive cytoplasmic membrane-bounded vesicle|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3) 26 Prostate(47;0.0687) BRCA - Breast invasive adenocarcinoma(232;0.0203) GGCCCTGATGCTCCAGTCTGGT 0.475 14 93 --- --- --- --- TOX4 9878 broad.mit.edu 37 14 21960698 21960698 + Frame_Shift_Del DEL C C - TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr14:21960698delC ENST00000405508.1 + 8 1199 c.923delC c.(922-924)gafs p.A308fs TOX4_ENST00000448790.2_Frame_Shift_Del_p.A285fs|TOX4_ENST00000262709.3_Frame_Shift_Del_p.A308fs O94842 TOX4_HUMAN TOX high mobility group box family member 4 308 chromatin|nucleus|PTW/PP1 phosphatase complex DNA binding|protein binding large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) TTGGATCCAGCACCACCATCA 0.453 22 122 --- --- --- --- TGM5 9333 broad.mit.edu 37 15 43527720 43527721 + Frame_Shift_Ins INS - - GGCT TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr15:43527720_43527721insGGCT ENST00000220420.5 - 10 1667_1668 c.1660_1661insAGCC c.(1660-1662)cctfs p.-553fs TGM5_ENST00000349114.4_Frame_Shift_Ins_p.-471fs NM_201631.3 NP_963925.2 O43548 TGM5_HUMAN transglutaminase 5 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1) 44 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) TGGGGACAGGGGGCTGCCATCG 0.530 18 47 --- --- --- --- RPL3 6122 broad.mit.edu 37 22 39710765 39710766 + Frame_Shift_Ins INS - - A TCGA-CV-A6JE-01A-11D-A31L-08 TCGA-CV-A6JE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cb08cf-3e97-4694-afdf-dad29bb97932 18f14cd1-49c8-4525-98e5-2ef3d540a952 g.chr22:39710765_39710766insA ENST00000216146.4 - 6 947_948 c.774_775insT c.(772-777)cactgcfs p.C259fs RPL3_ENST00000401609.1_Frame_Shift_Ins_p.C207fs|RPL3_ENST00000465618.1_5'UTR NM_000967.3|NM_001033853.1 NP_000958.1|NP_001029025.1 P39023 RL3_HUMAN ribosomal protein L3 259 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Melanoma(58;0.04) ACACGAGCAGGATGCCATGCCC 0.599 10 74 --- --- --- ---