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 OR4K17 390436 broad.mit.edu 37 14 20586459 20586459 + Silent SNP A A T TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr14:20586459A>T ENST00000315543.4 + 1 894 c.894A>T c.(892-894)gtA>gtT p.V298V NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) ACCACTCTGTAGATAAGTTCC 0.398000 13 44 0 0 0.013537 0 0 RCC1 1104 broad.mit.edu 37 1 28863285 28863285 + Missense_Mutation SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr1:28863285G>A ENST00000373833.6 + 12 1249 c.964G>A c.(964-966)Gag>Aag p.E322K RCC1_ENST00000373832.1_Missense_Mutation_p.E322K|RCC1_ENST00000398958.2_Missense_Mutation_p.E322K|RCC1_ENST00000373831.3_Missense_Mutation_p.E353K P18754 RCC1_HUMAN regulator of chromosome condensation 1 322 cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649) GGGCCGGGCTGAGTATGGGCG 0.612000 42 161 0 0 0.036044 0 0 CHD9 80205 broad.mit.edu 37 16 53262947 53262947 + Missense_Mutation SNP A A G TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr16:53262947A>G ENST00000566029.1 + 8 2430 c.2221A>G c.(2221-2223)Agg>Ggg p.R741G CHD9_ENST00000447540.1_Missense_Mutation_p.R741G|CHD9_ENST00000398510.3_Missense_Mutation_p.R741G|CHD9_ENST00000564845.1_Missense_Mutation_p.R741G Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 741 Chromo 1. cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) GAAAGATAAAAGGATCCAGCA 0.318000 2 11 0 0 0.004672 0 0 NFATC4 4776 broad.mit.edu 37 14 24839163 24839163 + Missense_Mutation SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr14:24839163G>A ENST00000413692.2 + 3 892 c.748G>A c.(748-750)Gac>Aac p.D250N NFATC4_ENST00000557451.1_Missense_Mutation_p.D117N|NFATC4_ENST00000553708.1_Missense_Mutation_p.D187N|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000554050.1_Missense_Mutation_p.D187N|NFATC4_ENST00000424781.2_Missense_Mutation_p.D200N|NFATC4_ENST00000555453.1_Missense_Mutation_p.D175N|NFATC4_ENST00000554661.1_Missense_Mutation_p.D117N|NFATC4_ENST00000553879.1_Missense_Mutation_p.D117N|NFATC4_ENST00000553469.1_Missense_Mutation_p.D219N|NFATC4_ENST00000554966.1_Missense_Mutation_p.D200N|NFATC4_ENST00000554344.1_Missense_Mutation_p.D117N|NFATC4_ENST00000250373.4_Missense_Mutation_p.D187N|NFATC4_ENST00000539237.2_Missense_Mutation_p.D219N|NFATC4_ENST00000555590.1_Missense_Mutation_p.D200N|NFATC4_ENST00000422617.3_Missense_Mutation_p.D175N|NFATC4_ENST00000556279.1_Missense_Mutation_p.D219N|NFATC4_ENST00000554591.1_Missense_Mutation_p.D250N|NFATC4_ENST00000556169.1_Missense_Mutation_p.D175N NM_001136022.1|NM_001198967.1 NP_001129494.1|NP_001185896.1 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 187 2 approximate SP repeats.|Pro-rich. cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2) 34 GBM - Glioblastoma multiforme(265;0.018) CGATGCCTCTGACGAGGCAGC 0.682000 4 56 0 0 0.009096 0 0 GIMAP4 55303 broad.mit.edu 37 7 150269372 150269372 + Missense_Mutation SNP C C T TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr7:150269372C>T ENST00000255945.2 + 3 389 c.214C>T c.(214-216)Cgc>Tgc p.R72C GIMAP4_ENST00000461940.1_Missense_Mutation_p.R86C|GIMAP4_ENST00000494750.1_3'UTR NM_018326.2 NP_060796.1 Q9NUV9 GIMA4_HUMAN GTPase, IMAP family member 4 72 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GTGTGAGAAACGCAGCAGCTC 0.478000 9 53 0 0 0.006214 0 0 DYNLT1 6993 broad.mit.edu 37 6 159058186 159058186 + Missense_Mutation SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr6:159058186G>A ENST00000367088.1 - 2 2210 c.38C>T c.(37-39)tCc>tTc p.S13F DYNLT1_ENST00000367089.3_Missense_Mutation_p.S82F P63172 DYLT1_HUMAN dynein, light chain, Tctex-type 1 82 cell division|establishment of mitotic spindle orientation|intracellular transport of viral proteins in host cell|mitosis|negative regulation of neurogenesis|regulation of G-protein coupled receptor protein signaling pathway cytoplasmic dynein complex|Golgi apparatus|microtubule|spindle identical protein binding|motor activity lung(2) 2 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;4.02e-18)|BRCA - Breast invasive adenocarcinoma(81;9.53e-06) CCAGAAGCAGGAACTTGCTGT 0.368000 12 54 0 0 0.020292 0 0 PI4KB 5298 broad.mit.edu 37 1 151288518 151288518 + Missense_Mutation SNP T T C TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr1:151288518T>C ENST00000368875.2 - 3 1056 c.476A>G c.(475-477)tAc>tGc p.Y159C PI4KB_ENST00000368872.1_Missense_Mutation_p.Y147C|PI4KB_ENST00000368874.4_Missense_Mutation_p.Y147C|PI4KB_ENST00000271657.5_Missense_Mutation_p.Y159C|PI4KB_ENST00000368873.1_Missense_Mutation_p.Y147C|PI4KB_ENST00000529142.1_Intron NM_002651.2 NP_002642.1 Q9UBF8 PI4KB_HUMAN phosphatidylinositol 4-kinase, catalytic, beta 147 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GTTATACAGGTATGAAATGGC 0.498000 4 82 0 0 0.014758 0 0 PTCHD4 442213 broad.mit.edu 37 6 47847599 47847599 + Missense_Mutation SNP G G C TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr6:47847599G>C ENST00000339488.4 - 3 1014 c.981C>G c.(979-981)gaC>gaG p.D327E NM_001013732.3 NP_001013754.3 Q6ZW05 CF138_HUMAN patched domain containing 4 327 SSD. integral to membrane hedgehog receptor activity CTGCTATCCTGTCTTTGAAGG 0.433000 2 16 0 0 0.004672 0 0 ZZEF1 23140 broad.mit.edu 37 17 3937546 3937546 + Missense_Mutation SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr17:3937546G>A ENST00000381638.2 - 40 6471 c.6347C>T c.(6346-6348)cCa>cTa p.P2116L NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 2116 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 AAACATGAGTGGAAGGACGTG 0.493000 3 80 0 0 0.004672 0 0 ICAM1 3383 broad.mit.edu 37 19 10381886 10381886 + Silent SNP C C T TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr19:10381886C>T ENST00000264832.3 + 1 376 c.51C>T c.(49-51)ctC>ctT p.L17L CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Silent_p.L17L NM_000201.2 NP_000192.2 P05362 ICAM1_HUMAN intercellular adhesion molecule 1 17 L -> F (in Ref. 11; AAQ14902). adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor extracellular space|integral to plasma membrane integrin binding|transmembrane receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06) Natalizumab(DB00108)|Simvastatin(DB00641) TGGTCCTGCTCGGGGCTCTGT 0.677000 5 19 0 0 0.014758 0 0 SPDYA 245711 broad.mit.edu 37 2 29063092 29063092 + Missense_Mutation SNP C C T TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr2:29063092C>T ENST00000334056.5 + 7 796 c.607C>T c.(607-609)Cac>Tac p.H203Y SPDYA_ENST00000379579.4_Missense_Mutation_p.H203Y|SPDYA_ENST00000462832.1_3'UTR NM_182756.3 NP_877433.2 Q5MJ70 SPDYA_HUMAN speedy/RINGO cell cycle regulator family member A 203 G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus nucleus protein kinase binding cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(172;0.155) TTCTGTTCATCACAGTGGAGC 0.398000 5 37 0 0 0.014758 0 0 DMTN 2039 broad.mit.edu 37 8 21926531 21926531 + Missense_Mutation SNP C C T TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr8:21926531C>T ENST00000358242.3 + 5 747 c.254C>T c.(253-255)tCg>tTg p.S85L DMTN_ENST00000519907.1_Missense_Mutation_p.S85L|DMTN_ENST00000517600.1_Intron|DMTN_ENST00000432128.1_Missense_Mutation_p.S85L|DMTN_ENST00000265800.5_Missense_Mutation_p.S85L|DMTN_ENST00000443491.2_Missense_Mutation_p.S60L|DMTN_ENST00000523782.2_Missense_Mutation_p.S60L|DMTN_ENST00000381470.3_Missense_Mutation_p.S85L|DMTN_ENST00000415253.1_Missense_Mutation_p.S85L|DMTN_ENST00000523266.1_Missense_Mutation_p.S85L dematin actin binding protein TCACAGCGCTCGCTGTCACCC 0.617000 37 120 0 0 0.013114 0 0 CLDN6 9074 broad.mit.edu 37 16 3065427 3065427 + Missense_Mutation SNP C C T TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr16:3065427C>T ENST00000396925.1 - 3 1024 c.596G>A c.(595-597)cGc>cAc p.R199H CLDN6_ENST00000572154.1_Intron|CLDN6_ENST00000328796.4_Missense_Mutation_p.R199H P56747 CLD6_HUMAN claudin 6 199 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 10 TGTTGAGTAGCGGGCCATGTA 0.652000 28 88 0 0 0.037714 0 0 KPNA1 3836 broad.mit.edu 37 3 122145978 122145978 + Missense_Mutation SNP C C T TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr3:122145978C>T ENST00000344337.6 - 14 1647 c.1471G>A c.(1471-1473)Gag>Aag p.E491K KPNA1_ENST00000466923.1_5'UTR NM_002264.3 NP_002255.3 P52294 IMA1_HUMAN karyopherin alpha 1 (importin alpha 5) 491 DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein binding|protein transporter activity NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 21 GBM - Glioblastoma multiforme(114;0.0898) TGGTAGATCTCCTGGTTTTCA 0.378000 16 55 0 0 0.007413 0 0 KCNV2 169522 broad.mit.edu 37 9 2718867 2718867 + Silent SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr9:2718867G>A ENST00000382082.3 + 1 1366 c.1128G>A c.(1126-1128)ttG>ttA p.L376L NM_133497.3 NP_598004.1 Q8TDN2 KCNV2_HUMAN potassium channel, subfamily V, member 2 376 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 35 GBM - Glioblastoma multiforme(50;0.0257) GTCAGGTGTTGCGCGTCATGC 0.667000 41 63 0 0 0.025465 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522815 95522815 + RNA SNP A A G TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr2:95522815A>G ENST00000432432.2 - 0 212 NR_040113.1 ATCTTCTGCAATTCGGAGTCC 0.652000 3 108 0 0 0.014758 0 0 KIAA1432 57589 broad.mit.edu 37 9 5757374 5757374 + Missense_Mutation SNP C C T TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr9:5757374C>T ENST00000414202.2 + 17 2106 c.1915C>T c.(1915-1917)Cac>Tac p.H639Y KIAA1432_ENST00000381532.2_Missense_Mutation_p.H560Y|KIAA1432_ENST00000418622.3_Missense_Mutation_p.H560Y|KIAA1432_ENST00000449720.2_Missense_Mutation_p.H523Y|KIAA1432_ENST00000251879.6_Missense_Mutation_p.H639Y NM_001206557.1|NM_020829.3 NP_001193486.1|NP_065880.2 Q4ADV7 RIC1_HUMAN KIAA1432 639 integral to membrane breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1) 45 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) CTACATTCCTCACCCTTTCCT 0.428000 27 201 0 0 0.030593 0 0 CDK5 1020 broad.mit.edu 37 7 150753685 150753685 + Silent SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr7:150753685G>A ENST00000485972.1 - 5 975 c.294C>T c.(292-294)ctC>ctT p.L98L CDK5_ENST00000297518.4_Silent_p.L98L NM_004935.3 NP_004926.1 Q00535 CDK5_HUMAN cyclin-dependent kinase 5 98 Protein kinase. activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1) 9 Breast(660;0.159)|Ovarian(593;0.182) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242) TCTCAGGATCGAGGTCACCAT 0.517000 13 27 0 0 0.024245 0 0 POU5F1 5460 broad.mit.edu 37 6 31133468 31133468 + Silent SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr6:31133468G>A ENST00000259915.8 - 3 609 c.537C>T c.(535-537)ttC>ttT p.F179F POU5F1_ENST00000606567.1_Silent_p.F9F|POU5F1_ENST00000513407.1_5'UTR|POU5F1_ENST00000512818.1_5'UTR|POU5F1_ENST00000441888.3_5'UTR|POU5F1_ENST00000471529.2_5'UTR NM_002701.4 NP_002692.2 Q01860 PO5F1_HUMAN POU class 5 homeobox 1 179 POU-specific. anatomical structure morphogenesis|blastocyst development|BMP signaling pathway involved in heart induction|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of catenin import into nucleus|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance cytosol|nucleoplasm|transcription factor complex miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding EWSR1/POU5F1(10) breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 13 TCGTTTGGCTGAATACCTTCC 0.557000 T EWSR1 sarcoma 4 25 0 0 0.009096 0 0 WWC1 23286 broad.mit.edu 37 5 167887657 167887657 + Silent SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr5:167887657G>A ENST00000265293.4 + 20 3328 c.2826G>A c.(2824-2826)ctG>ctA p.L942L WWC1_ENST00000521089.1_Silent_p.L942L|WWC1_ENST00000522140.1_3'UTR NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 942 Interaction with histone H3. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) TCTTGCAGCTGAATCGGAGTG 0.517000 16 37 0 0 0.007413 0 0 ZNF556 80032 broad.mit.edu 37 19 2877814 2877814 + Silent SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr19:2877814G>A ENST00000586426.1 + 4 942 c.855G>A c.(853-855)ccG>ccA p.P285P ZNF556_ENST00000307635.2_Silent_p.P286P Q9HAH1 ZN556_HUMAN zinc finger protein 556 286 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7) 31 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GAGGGAGACCGTATGAGTGCA 0.517000 13 52 0 0 0.013537 0 0 EZR 7430 broad.mit.edu 37 6 159206498 159206498 + Missense_Mutation SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr6:159206498G>A ENST00000367075.3 - 5 478 c.310C>T c.(310-312)Ctc>Ttc p.L104F EZR_ENST00000476189.1_5'UTR|EZR_ENST00000392177.4_Missense_Mutation_p.L72F|EZR_ENST00000337147.7_Missense_Mutation_p.L104F NM_001111077.1 NP_001104547.1 P15311 EZRI_HUMAN ezrin 104 FERM. actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane actin filament binding|cell adhesion molecule binding EZR/ROS1(4) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2) 15 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06) TTCACTTGGAGGAAGAAAAGT 0.542000 T ROS1 NSCLC 30 94 0 0 0.037714 0 0 ENOX2 10495 broad.mit.edu 37 X 129799694 129799694 + Missense_Mutation SNP C C T TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chrX:129799694C>T ENST00000338144.3 - 10 1441 c.1024G>A c.(1024-1026)Gcc>Acc p.A342T ENOX2_ENST00000394363.1_Missense_Mutation_p.A313T|ENOX2_ENST00000370927.1_Missense_Mutation_p.A342T|ENOX2_ENST00000370935.1_Missense_Mutation_p.A313T NM_182314.1 NP_872114.1 Q16206 ENOX2_HUMAN ecto-NOX disulfide-thiol exchanger 2 342 cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm cytosol|external side of plasma membrane|extracellular space nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3) 33 TGCTTGGAGGCGGAATGGTAC 0.488000 4 16 0 0 0.009096 0 0 RAB32 10981 broad.mit.edu 37 6 146875728 146875728 + Missense_Mutation SNP C C T TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr6:146875728C>T ENST00000367495.3 + 3 844 c.665C>T c.(664-666)tCc>tTc p.S222F NM_006834.3 NP_006825.1 Q13637 RAB32_HUMAN RAB32, member RAS oncogene family 222 protein transport|small GTPase mediated signal transduction mitochondrion GTP binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3) 8 Ovarian(120;0.142) OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608) GAGAACAAATCCCAGTGTTGC 0.428000 10 162 0 0 0.008291 0 0 POLB 5423 broad.mit.edu 37 8 42196191 42196191 + Missense_Mutation SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr8:42196191G>A ENST00000265421.4 + 1 219 c.49G>A c.(49-51)Gac>Aac p.D17N POLB_ENST00000538005.1_5'UTR|POLB_ENST00000530566.1_Intron NM_002690.2 NP_002681.1 P06746 DPOLB_HUMAN polymerase (DNA directed), beta 17 DNA-dependent DNA replication cytoplasm|nucleoplasm|spindle microtubule DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1) 16 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211) all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024) Cytarabine(DB00987) GGGAATCACCGACATGCTCAC 0.622000 DNA polymerases (catalytic subunits) 11 128 0 0 0.008291 0 0 DENND6B 414918 broad.mit.edu 37 22 50752658 50752658 + Silent SNP C C T TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr22:50752658C>T ENST00000413817.2 - 13 1187 c.1116G>A c.(1114-1116)ttG>ttA p.L372L NM_001001794.3 NP_001001794.3 DENN/MADD domain containing 6B CCAGGGTCTTCAACCTTGAAG 0.642000 6 27 0 0 0.021553 0 0 GLT6D1 360203 broad.mit.edu 37 9 138516117 138516117 + Silent SNP C C T TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr9:138516117C>T ENST00000371763.1 - 5 910 c.657G>A c.(655-657)ccG>ccA p.P219P NM_182974.2 NP_892019.2 Q7Z4J2 GL6D1_HUMAN glycosyltransferase 6 domain containing 1 219 P -> S (in dbSNP:rs17040344). carbohydrate metabolic process integral to membrane transferase activity, transferring hexosyl groups p.P219P(1) endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 15 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05) CCTGTCCAAACGGGATGCAAG 0.493000 5 135 0 0 0.021553 0 0 MBD1 4152 broad.mit.edu 37 18 47803212 47803212 + Missense_Mutation SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr18:47803212G>A ENST00000591416.1 - 4 813 c.382C>T c.(382-384)Cct>Tct p.P128S MBD1_ENST00000587605.1_Missense_Mutation_p.P128S|MBD1_ENST00000339998.6_Missense_Mutation_p.P128S|MBD1_ENST00000588937.1_Missense_Mutation_p.P128S|MBD1_ENST00000382948.5_Missense_Mutation_p.P128S|MBD1_ENST00000269471.5_Missense_Mutation_p.P128S|MBD1_ENST00000353909.3_Missense_Mutation_p.P128S|MBD1_ENST00000398488.1_Missense_Mutation_p.P128S|MBD1_ENST00000398495.2_Missense_Mutation_p.P128S|MBD1_ENST00000347968.3_Missense_Mutation_p.P128S|MBD1_ENST00000436910.1_Missense_Mutation_p.P128S|MBD1_ENST00000585672.1_Missense_Mutation_p.P128S|MBD1_ENST00000269468.5_Missense_Mutation_p.P128S|MBD1_ENST00000424334.2_Missense_Mutation_p.P154S|MBD1_ENST00000398493.1_Missense_Mutation_p.P128S|MBD1_ENST00000585595.1_Missense_Mutation_p.P128S|MBD1_ENST00000590208.1_Missense_Mutation_p.P128S|MBD1_ENST00000349085.2_Missense_Mutation_p.P128S|MBD1_ENST00000457839.2_Missense_Mutation_p.P128S|MBD1_ENST00000591535.1_Missense_Mutation_p.P128S Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 128 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 CCAGGAGCAGGGAATGAAGCT 0.602000 70 192 0 0 0.014410 0 0 EHBP1 23301 broad.mit.edu 37 2 63091877 63091877 + Missense_Mutation SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr2:63091877G>A ENST00000263991.5 + 10 1356 c.874G>A c.(874-876)Gaa>Aaa p.E292K EHBP1_ENST00000431489.1_Missense_Mutation_p.E257K|EHBP1_ENST00000405289.1_Missense_Mutation_p.E257K|EHBP1_ENST00000354487.3_Missense_Mutation_p.E257K|EHBP1_ENST00000405015.3_Missense_Mutation_p.E257K NM_015252.3 NP_056067.2 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 292 cytoplasm|membrane biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 47 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) ACCTATCACTGAAACAGCTTC 0.299000 13 67 0 0 0.016723 0 0 HIST1H3E 8353 broad.mit.edu 37 6 26225757 26225757 + Silent SNP C C T TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr6:26225757C>T ENST00000360408.1 + 1 375 c.375C>T c.(373-375)atC>atT p.I125I NM_003532.2 NP_003523.1 P68431 H31_HUMAN histone cluster 1, H3e 125 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding endometrium(1)|large_intestine(1)|lung(5)|skin(1) 8 all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351) CTAAAGACATCCAGCTTGCCC 0.542000 OREG0017240 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 88 0 0 0.010818 0 0 DPP3 10072 broad.mit.edu 37 11 66263137 66263137 + Silent SNP G G A rs113357584 TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr11:66263137G>A ENST00000532677.1 + 15 2072 c.1671G>A c.(1669-1671)gtG>gtA p.V557V DPP3_ENST00000541961.1_Silent_p.V538V|DPP3_ENST00000530165.1_Silent_p.V508V|DPP3_ENST00000360510.2_Silent_p.V538V|DPP3_ENST00000531863.1_Silent_p.V558V|DPP3_ENST00000453114.1_Silent_p.V538V NM_001256670.1|NM_005700.4|NM_130443.3 NP_001243599.1|NP_005691.2|NP_569710.2 Q9NY33 DPP3_HUMAN dipeptidyl-peptidase 3 538 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1) 23 CGGAGGACGTGATCTACGTGA 0.617000 12 60 0 0 0.016723 0 0 KANSL3 55683 broad.mit.edu 37 2 97270558 97270558 + Missense_Mutation SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr2:97270558G>A ENST00000599854.1 - 16 2182 c.1715C>T c.(1714-1716)tCa>tTa p.S572L KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000441706.2_Intron|KANSL3_ENST00000440133.1_Missense_Mutation_p.S479L|KANSL3_ENST00000431828.1_Missense_Mutation_p.S659L NM_001115016.2 NP_001108488.1 Q9P2N6 K1310_HUMAN KAT8 regulatory NSL complex subunit 3 685 GGCCCCTGCTGAAGCCTGCCC 0.522000 5 10 0 0 0.021553 0 0 GLP2R 9340 broad.mit.edu 37 17 9760756 9760756 + Missense_Mutation SNP C C T TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr17:9760756C>T ENST00000262441.5 + 6 1141 c.628C>T c.(628-630)Cgc>Tgc p.R210C GLP2R_ENST00000574745.1_Missense_Mutation_p.R30C NM_004246.1 NP_004237.1 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor 210 G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane p.R210C(2) endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 44 Glucagon recombinant(DB00040) CCACTGCACGCGCAACTACAT 0.493000 7 66 0 0 0.038147 0 0 KRT18 3875 broad.mit.edu 37 12 53346038 53346038 + Missense_Mutation SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr12:53346038G>A ENST00000550600.1 + 7 1138 c.1084G>A c.(1084-1086)Gag>Aag p.E362K KRT18_ENST00000388837.2_Missense_Mutation_p.E362K|KRT18_ENST00000388835.3_Missense_Mutation_p.E362K P05783 K1C18_HUMAN keratin 18 362 Coil 2.|Interaction with DNAJB6.|Necessary for interaction with PNN.|Rod. anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis centriolar satellite|keratin filament|perinuclear region of cytoplasm protein binding|structural molecule activity central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1) 11 CCAGGCCCAGGAGTATGAGGC 0.627000 4 12 0 0 0.009096 0 0 RAD51B 5890 broad.mit.edu 37 14 68758606 68758606 + Silent SNP C C T TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr14:68758606C>T ENST00000487270.1 + 8 810 c.762C>T c.(760-762)atC>atT p.I254I RAD51B_ENST00000390683.3_Silent_p.I254I|RAD51B_ENST00000469165.2_3'UTR|RAD51B_ENST00000487861.1_Silent_p.I254I|RAD51B_ENST00000488612.1_Silent_p.I254I|RAD51B_ENST00000471583.1_Silent_p.I254I NM_133509.3 NP_598193.2 O15315 RA51B_HUMAN RAD51 paralog B 254 blood coagulation|DNA repair|reciprocal meiotic recombination nucleoplasm ATP binding|DNA binding|DNA-dependent ATPase activity HMGA2/RAD51B(11) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 11 CACAGGTTATCTTGACGAATC 0.478000 Direct reversal of damage 30 74 0 0 0.037714 0 0 EED 8726 broad.mit.edu 37 11 85956375 85956375 + Missense_Mutation SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr11:85956375G>A ENST00000263360.6 + 1 790 c.104G>A c.(103-105)gGa>gAa p.G35E EED_ENST00000528180.1_Missense_Mutation_p.G35E|EED_ENST00000351625.6_Missense_Mutation_p.G35E|EED_ENST00000327320.4_Missense_Mutation_p.G35E NM_003797.3 NP_003788.2 O75530 EED_HUMAN embryonic ectoderm development 35 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|identical protein binding haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 21 Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092) GACCTCTCTGGAGACGAGAAT 0.562000 16 35 0 0 0.028581 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121636594 121636594 + Missense_Mutation SNP T T G TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr7:121636594T>G ENST00000393386.2 + 9 1498 c.1087T>G c.(1087-1089)Ttt>Gtt p.F363V PTPRZ1_ENST00000449182.1_Missense_Mutation_p.F363V NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 363 Fibronectin type-III. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 CAAGCATGAATTTTTGACAGA 0.363000 31 139 0 0 0.021022 0 0 DYNLT1 6993 broad.mit.edu 37 6 159058168 159058168 + Missense_Mutation SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr6:159058168G>A ENST00000367088.1 - 2 2228 c.56C>T c.(55-57)tCt>tTt p.S19F DYNLT1_ENST00000367089.3_Missense_Mutation_p.S88F P63172 DYLT1_HUMAN dynein, light chain, Tctex-type 1 88 cell division|establishment of mitotic spindle orientation|intracellular transport of viral proteins in host cell|mitosis|negative regulation of neurogenesis|regulation of G-protein coupled receptor protein signaling pathway cytoplasmic dynein complex|Golgi apparatus|microtubule|spindle identical protein binding|motor activity lung(2) 2 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;4.02e-18)|BRCA - Breast invasive adenocarcinoma(81;9.53e-06) ACCGTCAGTAGAGCTGTCCCA 0.363000 9 51 0 0 0.008291 0 0 LONP1 9361 broad.mit.edu 37 19 5719905 5719905 + Missense_Mutation SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr19:5719905G>A ENST00000360614.3 - 1 396 c.239C>T c.(238-240)tCg>tTg p.S80L LONP1_ENST00000585374.1_Intron|LONP1_ENST00000540670.2_Intron|LONP1_ENST00000593119.1_Intron|LONP1_ENST00000590511.1_5'UTR NM_004793.2 NP_004784.2 P36776 LONM_HUMAN lon peptidase 1, mitochondrial 80 cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CTCGCCCCCCGAGAATGCGCC 0.761000 5 10 0 0 0.014758 0 0 ARHGEF18 23370 broad.mit.edu 37 19 7533921 7533921 + Missense_Mutation SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr19:7533921G>A ENST00000359920.6 + 17 3380 c.3127G>A c.(3127-3129)Gtg>Atg p.V1043M ARHGEF18_ENST00000319670.9_Missense_Mutation_p.V885M|CTD-2207O23.3_ENST00000593531.1_Silent_p.P1000P NM_001130955.1 NP_001124427.1 Q6ZSZ5 ARHGI_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 18 1043 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1) 23 Renal(5;0.0902) GCAGGCGGCCGTGCAGCAGCA 0.687000 3 10 0 0 0.004672 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64527264 64527264 + Missense_Mutation SNP T T C TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr3:64527264T>C ENST00000498707.1 - 34 5572 c.5230A>G c.(5230-5232)Aga>Gga p.R1744G ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1716G NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 1744 GON. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) CCTTTAAGTCTTTTTACCTCC 0.383000 3 180 0 0 0.009096 0 0 NFKBIL1 4795 broad.mit.edu 37 6 31516041 31516041 + Silent SNP C C T TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr6:31516041C>T ENST00000376148.4 + 2 273 c.159C>T c.(157-159)ctC>ctT p.L53L NFKBIL1_ENST00000376145.4_Silent_p.L53L NM_005007.3 NP_004998.3 Q9UBC1 IKBL1_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 53 cytoplasmic sequestering of transcription factor protein binding breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1) 7 AGGCCCTCCTCCAGCGACACC 0.682000 20 57 0 0 0.016522 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 28 87 0 0 0.041601 0 0 TP73 7161 broad.mit.edu 37 1 3624151 3624151 + Missense_Mutation SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr1:3624151G>A ENST00000378295.4 + 4 380 c.225G>A c.(223-225)atG>atA p.M75I TP73_ENST00000604479.1_Missense_Mutation_p.M75I|TP73_ENST00000604074.1_Missense_Mutation_p.M75I|TP73_ENST00000378280.1_Missense_Mutation_p.M26I|TP73_ENST00000378285.1_Missense_Mutation_p.M26I|TP73_ENST00000603362.1_Missense_Mutation_p.M75I|TP73_ENST00000378288.4_Missense_Mutation_p.M26I|TP73_ENST00000378290.4_Missense_Mutation_p.M4I|TP73_ENST00000357733.3_Missense_Mutation_p.M75I|TP73_ENST00000354437.4_Missense_Mutation_p.M75I|TP73_ENST00000346387.4_Missense_Mutation_p.M75I NM_001204185.1|NM_005427.3 NP_001191114.1|NP_005418.1 O15350 P73_HUMAN tumor protein p73 75 cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray chromatin|cytosol|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1) 20 all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198) all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127) Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226) TGGACCAGATGAGCAGCCGCG 0.667000 21 198 0 0 0.010504 0 0 OR5V1 81696 broad.mit.edu 37 6 29323725 29323725 + Missense_Mutation SNP A A G TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr6:29323725A>G ENST00000377154.1 - 4 547 c.248T>C c.(247-249)gTg>gCg p.V83A OR5V1_ENST00000543825.1_Missense_Mutation_p.V83A Q9UGF6 OR5V1_HUMAN olfactory receptor, family 5, subfamily V, member 1 83 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V83A(1) breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GAGGAGGTGCACCATCATCTG 0.433000 17 147 0 0 0.033300 0 0 LAMB2 3913 broad.mit.edu 37 3 49169963 49169963 + Silent SNP C C T TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr3:49169963C>T ENST00000418109.1 - 3 374 c.210G>A c.(208-210)ctG>ctA p.L70L LAMB2_ENST00000305544.4_Silent_p.L70L NM_002292.3 NP_002283.3 P55268 LAMB2_HUMAN laminin, beta 2 (laminin S) 70 Laminin N-terminal. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GGGGGCCATTCAGGCCACAAG 0.662000 22 76 0 0 0.010504 0 0 DUSP6 1848 broad.mit.edu 37 12 89745586 89745586 + Silent SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr12:89745586G>A ENST00000279488.7 - 1 1462 c.231C>T c.(229-231)ttC>ttT p.F77F DUSP6_ENST00000308385.6_Silent_p.F77F NM_001946.2 NP_001937.2 Q16828 DUS6_HUMAN dual specificity phosphatase 6 77 Rhodanese. dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity large_intestine(5)|lung(8)|skin(2)|urinary_tract(1) 16 CGCCGCGCGTGAAGAGCGCGC 0.662000 5 22 0 0 0.021553 0 0 PIAS3 10401 broad.mit.edu 37 1 145584527 145584527 + Silent SNP T T A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr1:145584527T>A ENST00000393045.2 + 12 1584 c.1494T>A c.(1492-1494)ccT>ccA p.P498P PIAS3_ENST00000369298.1_Silent_p.P463P NM_006099.3 NP_006090.2 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 498 positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2) 28 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TAAGGAGCCCTGCTATGGGCA 0.597000 8 225 0 0 0.038147 0 0 ALG3 10195 broad.mit.edu 37 3 183966697 183966697 + Missense_Mutation SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr3:183966697G>A ENST00000397676.3 - 1 62 c.32C>T c.(31-33)tCc>tTc p.S11F EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000445626.2_Intron|ALG3_ENST00000455059.1_Intron|ALG3_ENST00000418734.2_5'UTR NM_005787.5 NP_005778.1 Q92685 ALG3_HUMAN ALG3, alpha-1,3- mannosyltransferase 11 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane alpha-1,3-mannosyltransferase activity kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 9 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CGCGGAACCGGACCGGCCGCG 0.697000 4 7 0 0 0.014758 0 0 THSD1 55901 broad.mit.edu 37 13 52971918 52971918 + Missense_Mutation SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr13:52971918G>A ENST00000349258.4 - 3 1014 c.470C>T c.(469-471)cCg>cTg p.P157L THSD1_ENST00000258613.4_Missense_Mutation_p.P157L|THSD1_ENST00000544466.1_Intron NM_199263.2 NP_954872.1 Q9NS62 THSD1_HUMAN thrombospondin, type I, domain containing 1 157 extracellular region|integral to membrane|intracellular membrane-bounded organelle breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) CACAGGAAACGGGCACAGTGG 0.498000 8 85 0 0 0.038147 0 0 BICC1 80114 broad.mit.edu 37 10 60573609 60573609 + Missense_Mutation SNP C C T TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr10:60573609C>T ENST00000373886.3 + 18 2400 c.2396C>T c.(2395-2397)tCa>tTa p.S799L BICC1_ENST00000263103.1_Missense_Mutation_p.S425L NM_001080512.1 NP_001073981.1 Q9H694 BICC1_HUMAN bicaudal C homolog 1 (Drosophila) 799 multicellular organismal development RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 44 ATGTCCCTTTCACGGTCCAAC 0.458000 40 116 0 0 0.039052 0 0 RPRD1A 55197 broad.mit.edu 37 18 33647312 33647312 + Missense_Mutation SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr18:33647312G>A ENST00000399022.4 - 1 227 c.56C>T c.(55-57)tCg>tTg p.S19L RPRD1A_ENST00000588737.1_5'UTR|RPRD1A_ENST00000319040.6_Missense_Mutation_p.S19L|RPRD1A_ENST00000590898.1_5'UTR|RPRD1A_ENST00000357384.4_Missense_Mutation_p.S19L NM_018170.3 NP_060640.2 Q96P16 RPR1A_HUMAN regulation of nuclear pre-mRNA domain containing 1A 19 CID. NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2) 12 GCTCTGCTGCGAGTTGCTCAA 0.637000 4 9 0 0 0.009096 0 0 KRTAP5-5 439915 broad.mit.edu 37 11 1651522 1651522 + Missense_Mutation SNP C C T TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr11:1651522C>T ENST00000399676.2 + 1 490 c.452C>T c.(451-453)tCt>tTt p.S151F NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 151 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GGCTGTGGTTCTTATGGCTGC 0.667000 11 179 0 0 0.024245 0 0 ARFIP2 23647 broad.mit.edu 37 11 6500468 6500468 + Missense_Mutation SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr11:6500468G>A ENST00000254584.2 - 4 300 c.217C>T c.(217-219)Cac>Tac p.H73Y ARFIP2_ENST00000525235.1_Missense_Mutation_p.H73Y|ARFIP2_ENST00000423813.2_Missense_Mutation_p.H35Y|ARFIP2_ENST00000396777.3_Missense_Mutation_p.H73Y|ARFIP2_ENST00000445086.2_Intron NM_012402.3 NP_036534.1 P53365 ARFP2_HUMAN ADP-ribosylation factor interacting protein 2 73 actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction cell cortex|plasma membrane|ruffle GTP binding|GTP-dependent protein binding|Rac GTPase binding endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2) 15 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) GTGGTGCTGTGAGATGGATGG 0.532000 22 113 0 0 0.014323 0 0 AHNAK 79026 broad.mit.edu 37 11 62299935 62299935 + Silent SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr11:62299935G>A ENST00000378024.4 - 5 2228 c.1954C>T c.(1954-1956)Cta>Tta p.L652L AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 652 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CCTTTGGGTAGAGTCATATGA 0.512000 38 135 0 0 0.030466 0 0 C11orf74 119710 broad.mit.edu 37 11 36631730 36631730 + Missense_Mutation SNP A A G TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr11:36631730A>G ENST00000446510.2 + 2 176 c.77A>G c.(76-78)aAt>aGt p.N26S C11orf74_ENST00000334307.5_Missense_Mutation_p.N26S|C11orf74_ENST00000534635.1_Missense_Mutation_p.N26S|C11orf74_ENST00000347206.4_Missense_Mutation_p.N26S Q86VG3 CK074_HUMAN chromosome 11 open reading frame 74 26 breast(1)|kidney(1)|large_intestine(1)|lung(5) 8 all_lung(20;0.226) all_hematologic(20;0.0118) AAATTCCTTAATTGTCATGAG 0.348000 14 62 0 0 0.020292 0 0 TBC1D12 23232 broad.mit.edu 37 10 96162370 96162370 + Translation_Start_Site SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr10:96162370G>A ENST00000225235.4 + 0 110 NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) CCCACCCCCAGATGGTGGGTC 0.697000 12 28 0 0 0.028581 0 0 MALAT1 0 broad.mit.edu 37 11 65265970 65265970 + RNA SNP C C T TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr11:65265970C>T ENST00000534336.1 + 0 738 NR_002819.2 CCGTGCTGCTCCGATTTCTCG 0.537000 15 47 0 0 0.020292 0 0 RFX5 5993 broad.mit.edu 37 1 151316350 151316350 + Missense_Mutation SNP C C T TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr1:151316350C>T ENST00000290524.4 - 9 742 c.564G>A c.(562-564)atG>atA p.M188I RFX5_ENST00000452671.2_Missense_Mutation_p.M188I|RFX5_ENST00000452513.2_Missense_Mutation_p.M148I|RFX5_ENST00000368870.2_Missense_Mutation_p.M188I NM_000449.3|NM_001025603.1 NP_000440.1|NP_001020774.1 P48382 RFX5_HUMAN regulatory factor X, 5 (influences HLA class II expression) 188 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CTTCTGGGCCCATTTCTGGCT 0.527000 17 54 0 0 0.007413 0 0 PRM2 5620 broad.mit.edu 37 16 11369687 11369687 + Nonstop_Mutation SNP C C G TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr16:11369687C>G ENST00000435245.2 - 2 532 c.423G>C c.(421-423)taG>taC p.*141Y PRM2_ENST00000241808.4_3'UTR|RMI2_ENST00000572173.1_Intron P04554 PRM2_HUMAN protamine 2 0 chromosome condensation|multicellular organismal development nucleoplasm|nucleosome DNA binding p.0?(1) central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2) 7 AGGGGAATTGCTATGGCCTCA 0.517000 4 16 0 0 0.009096 0 0 ICAM1 3383 broad.mit.edu 37 19 10395810 10395810 + Silent SNP C C T TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr19:10395810C>T ENST00000264832.3 + 7 1771 c.1446C>T c.(1444-1446)gtC>gtT p.V482V ICAM1_ENST00000423829.2_Silent_p.V260V NM_000201.2 NP_000192.2 P05362 ICAM1_HUMAN intercellular adhesion molecule 1 482 adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor extracellular space|integral to plasma membrane integrin binding|transmembrane receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06) Natalizumab(DB00108)|Simvastatin(DB00641) ATGAGATTGTCATCATCACTG 0.577000 23 76 0 0 0.018920 0 0 ANAPC1 64682 broad.mit.edu 37 2 112621449 112621449 + Silent SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr2:112621449G>A ENST00000341068.3 - 9 1627 c.855C>T c.(853-855)ttC>ttT p.F285F NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 285 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 CCTGTTCAGAGAACTTTAAAA 0.393000 5 17 0 0 0.013537 0 0 OR8H3 390152 broad.mit.edu 37 11 55890231 55890231 + Missense_Mutation SNP G G C TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr11:55890231G>C ENST00000313472.3 + 1 383 c.383G>C c.(382-384)aGt>aCt p.S128T NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 128 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) GCGATCTGCAGTCCTCTACAC 0.473000 3 230 0 0 0.004482 0 0 KIAA1467 57613 broad.mit.edu 37 12 13224331 13224331 + Splice_Site SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr12:13224331G>A ENST00000197268.8 + 10 1644 c.e10+1 NM_020853.1 NP_065904.1 A2RU67 K1467_HUMAN KIAA1467 integral to membrane NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4) 36 Prostate(47;0.184) BRCA - Breast invasive adenocarcinoma(232;0.157) TCCCAATTCCGTGAGTGAGCC 0.517000 22 57 0 0 0.010504 0 0 ARSH 347527 broad.mit.edu 37 X 2933405 2933405 + Missense_Mutation SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chrX:2933405G>A ENST00000381130.2 + 4 735 c.735G>A c.(733-735)atG>atA p.M245I NM_001011719.1 NP_001011719.1 Q5FYA8 ARSH_HUMAN arylsulfatase family, member H 245 integral to membrane arylsulfatase activity|metal ion binding breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1) 34 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) CTTCCCTCATGCTGAAGGAGG 0.398000 13 67 0 0 0.020292 0 0 ZNF646 9726 broad.mit.edu 37 16 31089468 31089468 + Missense_Mutation SNP A A C TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr16:31089468A>C ENST00000394979.2 + 1 2246 c.1823A>C c.(1822-1824)gAg>gCg p.E608A ZNF646_ENST00000300850.5_Missense_Mutation_p.E608A O15015 ZN646_HUMAN zinc finger protein 646 608 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 AGCAGAACAGAGACCACAATG 0.537000 13 84 0 0 0.013537 0 0 PTCH1 5727 broad.mit.edu 37 9 98239123 98239123 + Missense_Mutation SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr9:98239123G>A ENST00000430669.2 - 11 1907 c.1322C>T c.(1321-1323)gCt>gTt p.A441V PTCH1_ENST00000429896.2_Missense_Mutation_p.A356V|PTCH1_ENST00000375274.2_Missense_Mutation_p.A506V|PTCH1_ENST00000421141.1_Missense_Mutation_p.A356V|PTCH1_ENST00000418258.1_Missense_Mutation_p.A356V|PTCH1_ENST00000331920.6_Missense_Mutation_p.A507V|PTCH1_ENST00000437951.1_Missense_Mutation_p.A441V Q13635 PTC1_HUMAN patched 1 507 SSD. embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) AACACCAAGAGCGAGAAATGG 0.428000 9 33 0 0 0.008291 0 0 ANAPC1 64682 broad.mit.edu 37 2 112621447 112621447 + Missense_Mutation SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr2:112621447G>A ENST00000341068.3 - 9 1629 c.857C>T c.(856-858)tCt>tTt p.S286F NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 286 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 CCCCTGTTCAGAGAACTTTAA 0.398000 5 17 0 0 0.013537 0 0 CCDC6 8030 broad.mit.edu 37 10 61666113 61666113 + Nonsense_Mutation SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr10:61666113G>A ENST00000263102.6 - 1 301 c.70C>T c.(70-72)Cag>Tag p.Q24* NM_005436.4 NP_005427.2 Q16204 CCDC6_HUMAN coiled-coil domain containing 6 24 cytoplasm|cytoskeleton SH3 domain binding|structural constituent of cytoskeleton CCDC6/RET(4) breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1) 18 Kidney(211;0.0597) CAGGACGACTGCATGGCGGCC 0.751000 T RET NSCLC 16 25 0 0 0.033300 0 0 ZZEF1 23140 broad.mit.edu 37 17 3984759 3984759 + Missense_Mutation SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr17:3984759G>A ENST00000381638.2 - 18 2864 c.2740C>T c.(2740-2742)Ctt>Ttt p.L914F ZZEF1_ENST00000574474.1_5'UTR NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 914 calcium ion binding|zinc ion binding p.L914delL(1) central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 TCAGGTAAAAGAAGAAGGCCG 0.448000 35 79 0 0 0.013726 0 0 GPR123 84435 broad.mit.edu 37 10 134910590 134910590 + Missense_Mutation SNP A A C TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr10:134910590A>C ENST00000607359.1 + 12 2276 c.2276A>C c.(2275-2277)tAc>tCc p.Y759S GPR123_ENST00000392607.3_Missense_Mutation_p.Y39S Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 39 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) TTCGTCACCTACATCGTGCAC 0.632000 8 88 0 0 0.038147 0 0 YES1 7525 broad.mit.edu 37 18 748002 748002 + Missense_Mutation SNP C C T TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr18:748002C>T ENST00000584307.1 - 4 558 c.388G>A c.(388-390)Gaa>Aaa p.E130K YES1_ENST00000577961.1_Missense_Mutation_p.E135K|YES1_ENST00000314574.4_Missense_Mutation_p.E130K P07947 YES_HUMAN v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1 130 SH3. blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation cytosol|plasma membrane ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1) 17 Dasatinib(DB01254) GATCTTGCTTCCCACCAATCT 0.433000 31 111 0 0 0.017118 0 0 PELO 53918 broad.mit.edu 37 5 52096595 52096595 + Missense_Mutation SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr5:52096595G>A ENST00000274311.2 + 2 1352 c.367G>A c.(367-369)Gag>Aag p.E123K ITGA1_ENST00000504086.1_Intron|PELO_ENST00000506949.1_Intron|ITGA1_ENST00000282588.6_Intron NM_015946.4 NP_057030.3 Q9BRX2 PELO_HUMAN pelota homolog (Drosophila) 123 cell cycle|cell division|translation cytoplasm|nucleus endonuclease activity|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 11 Lung NSC(810;4.94e-05)|Breast(144;0.0848) TGTGGTACTGGAGCGCATCGA 0.587000 16 55 0 0 0.028581 0 0 ERBB3 2065 broad.mit.edu 37 12 56490857 56490857 + Missense_Mutation SNP A A G TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr12:56490857A>G ENST00000267101.3 + 20 2743 c.2303A>G c.(2302-2304)cAt>cGt p.H768R ERBB3_ENST00000553131.1_Missense_Mutation_p.H9R|ERBB3_ENST00000450146.2_Missense_Mutation_p.H125R|ERBB3_ENST00000415288.2_Missense_Mutation_p.H709R NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 768 Protein kinase. cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) AGCCTGGACCATGCCCACATT 0.502000 16 98 0 0 0.028581 0 0 ZNF721 170960 broad.mit.edu 37 4 435626 435626 + Missense_Mutation SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr4:435626G>A ENST00000338977.5 - 2 2642 c.2594C>T c.(2593-2595)tCt>tTt p.S865F ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.S877F zinc finger protein 721 endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1) 33 AAGATTTGCAGACTGTCTAAA 0.403000 15 52 0 0 0.020292 0 0 DTNA 1837 broad.mit.edu 37 18 32438301 32438301 + Nonsense_Mutation SNP C C T TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr18:32438301C>T ENST00000283365.9 + 15 1684 c.1333C>T c.(1333-1335)Cag>Tag p.Q445* DTNA_ENST00000596745.1_Nonsense_Mutation_p.Q252*|DTNA_ENST00000269192.7_Nonsense_Mutation_p.Q211*|DTNA_ENST00000597674.1_Nonsense_Mutation_p.Q124*|DTNA_ENST00000591182.1_Nonsense_Mutation_p.Q150*|DTNA_ENST00000556414.3_Nonsense_Mutation_p.Q154*|DTNA_ENST00000598774.1_Nonsense_Mutation_p.Q445*|DTNA_ENST00000399097.3_Nonsense_Mutation_p.Q150*|DTNA_ENST00000595022.1_Nonsense_Mutation_p.Q442*|DTNA_ENST00000599844.1_Nonsense_Mutation_p.Q124*|DTNA_ENST00000598334.1_Nonsense_Mutation_p.Q442*|DTNA_ENST00000269190.7_Nonsense_Mutation_p.Q503*|DTNA_ENST00000598142.1_Nonsense_Mutation_p.Q445*|DTNA_ENST00000399121.5_Nonsense_Mutation_p.Q442*|DTNA_ENST00000601125.1_Nonsense_Mutation_p.Q124*|DTNA_ENST00000597599.1_Nonsense_Mutation_p.Q442*|DTNA_ENST00000269191.6_Nonsense_Mutation_p.Q502*|DTNA_ENST00000399113.3_Nonsense_Mutation_p.Q502*|DTNA_ENST00000444659.1_Nonsense_Mutation_p.Q502*|DTNA_ENST00000348997.5_Nonsense_Mutation_p.Q499* NM_032975.3 NP_116757.2 Q9Y4J8 DTNA_HUMAN dystrobrevin, alpha 502 Syntrophin-binding region. neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding p.Q502E(1)|p.Q503E(1)|p.Q503*(1)|p.Q502*(1)|p.Q150*(1)|p.Q150E(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 29 ACAAGCTTCTCAGCCCACGCC 0.512000 15 80 0 0 0.038395 0 0 KIAA1244 57221 broad.mit.edu 37 6 138583995 138583995 + Missense_Mutation SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr6:138583995G>A ENST00000251691.4 + 12 1541 c.1375G>A c.(1375-1377)Gag>Aag p.E459K NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 459 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) TCTGCGCCTTGAGGAGCTGAA 0.612000 9 35 0 0 0.004482 0 0 WNT4 54361 broad.mit.edu 37 1 22448049 22448049 + Missense_Mutation SNP C C T TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr1:22448049C>T ENST00000290167.6 - 3 377 c.334G>A c.(334-336)Gtg>Atg p.V112M WNT4_ENST00000542383.1_Missense_Mutation_p.V57M NM_030761.4 NP_110388.2 P56705 WNT4_HUMAN wingless-type MMTV integration site family, member 4 112 adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2) 8 Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) ATGGCGTACACGAAGGCCGCC 0.657000 4 52 0 0 0.009096 0 0 NAAA 27163 broad.mit.edu 37 4 76861902 76861902 + Silent SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr4:76861902G>A ENST00000286733.4 - 1 302 c.201C>T c.(199-201)gtC>gtT p.V67V NAAA_ENST00000399497.3_Silent_p.V67V|NAAA_ENST00000507187.2_Silent_p.V67V|NAAA_ENST00000507956.1_Silent_p.V67V NM_014435.3 NP_055250.2 Q02083 NAAA_HUMAN N-acylethanolamine acid amidase 67 lipid metabolic process lysosome hydrolase activity endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 11 CTCACCCGATGACTTGCGCCA 0.687000 17 24 0 0 0.008871 0 0 GFOD1 54438 broad.mit.edu 37 6 13487069 13487069 + Missense_Mutation SNP G G C TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr6:13487069G>C ENST00000379287.3 - 1 718 c.54C>G c.(52-54)atC>atG p.I18M GFOD1-AS1_ENST00000446001.1_RNA|GFOD1_ENST00000603223.1_Missense_Mutation_p.I18M NM_018988.3 NP_061861.1 Q9NXC2 GFOD1_HUMAN glucose-fructose oxidoreductase domain containing 1 18 extracellular region binding|oxidoreductase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2) 18 Breast(50;0.0296)|Ovarian(93;0.0454) all_hematologic(90;0.135) Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108) TCAGCAGCGGGATGATGACAC 0.647000 16 105 0 0 0.028581 0 0 GLCE 26035 broad.mit.edu 37 15 69561469 69561469 + Silent SNP C C T TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr15:69561469C>T ENST00000261858.2 + 5 1968 c.1740C>T c.(1738-1740)acC>acT p.T580T GLCE_ENST00000559420.2_Silent_p.T516T NM_015554.1 NP_056369.1 O94923 GLCE_HUMAN glucuronic acid epimerase 580 heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process Golgi membrane|integral to membrane UDP-glucuronate 5'-epimerase activity NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 18 ACTATCATACCACCCACATCA 0.502000 72 222 0 0 0.014410 0 0 FARSA 2193 broad.mit.edu 37 19 13041137 13041137 + Missense_Mutation SNP C C T TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr19:13041137C>T ENST00000588025.1 - 5 663 c.523G>A c.(523-525)Gag>Aag p.E175K FARSA_ENST00000314606.4_Missense_Mutation_p.E135K|FARSA_ENST00000423140.2_Missense_Mutation_p.E135K Q9Y285 SYFA_HUMAN phenylalanyl-tRNA synthetase, alpha subunit 135 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1) 20 L-Phenylalanine(DB00120) CGCTGCACCTCATCCTCCATG 0.652000 25 95 0 0 0.024334 0 0 LRP10 26020 broad.mit.edu 37 14 23346174 23346174 + Missense_Mutation SNP C C T TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr14:23346174C>T ENST00000359591.4 + 7 2271 c.1580C>T c.(1579-1581)tCt>tTt p.S527F LRP10_ENST00000470660.1_3'UTR|LRP10_ENST00000546834.1_Missense_Mutation_p.527_527insF NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 527 endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) AACCTGCGTTCTCTGCTACAG 0.622000 22 62 0 0 0.014323 0 0 ATP12A 479 broad.mit.edu 37 13 25262595 25262595 + Missense_Mutation SNP G G A rs149324896 TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr13:25262595G>A ENST00000218548.6 + 4 700 c.367G>A c.(367-369)Gcc>Acc p.A123T ATP12A_ENST00000381946.3_Missense_Mutation_p.A123T NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 123 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) GTGGGTGGGCGCCTTTCTCTG 0.572000 90 365 0 0 0.014410 0 0 HNRNPUL2 221092 broad.mit.edu 37 11 62494265 62494265 + Missense_Mutation SNP C C T TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr11:62494265C>T ENST00000301785.5 - 1 556 c.364G>A c.(364-366)Gcg>Acg p.A122T RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.A122T NM_001079559.2 NP_001073027.1 Q1KMD3 HNRL2_HUMAN heterogeneous nuclear ribonucleoprotein U-like 2 122 Glu-rich. cell killing nucleus ATP binding|nucleic acid binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 GGCTCGGCCGCGGCCTCCATG 0.721000 20 39 0 0 0.012319 0 0 EMR3 84658 broad.mit.edu 37 19 14736376 14736376 + Silent SNP G G A rs147270469 by1000genomes TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr19:14736376G>A ENST00000253673.5 - 15 1948 c.1848C>T c.(1846-1848)atC>atT p.I616I EMR3_ENST00000344373.4_Silent_p.I564I|EMR3_ENST00000599900.1_Silent_p.I401I|EMR3_ENST00000443157.2_Silent_p.I490I NM_032571.3 NP_115960.2 Q9BY15 EMR3_HUMAN egf-like module containing, mucin-like, hormone receptor-like 3 616 neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 50 TTGATTTTACGATCTCTCTAA 0.403000 18 172 0 0 0.010504 0 0 FIGNL1 63979 broad.mit.edu 37 7 50514709 50514709 + Nonsense_Mutation SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr7:50514709G>A ENST00000419119.1 - 2 1830 c.277C>T c.(277-279)Caa>Taa p.Q93* FIGNL1_ENST00000395556.2_Nonsense_Mutation_p.Q93*|FIGNL1_ENST00000435566.1_Silent_p.L54L|FIGNL1_ENST00000433017.1_Nonsense_Mutation_p.Q93*|FIGNL1_ENST00000356889.4_Nonsense_Mutation_p.Q93* Q6PIW4 FIGL1_HUMAN fidgetin-like 1 93 ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle cytoplasm|nucleus ATP binding|magnesium ion binding|nucleoside-triphosphatase activity endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 29 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06) TCTGTTTGTTGAGATCCTGCC 0.323000 30 105 0 0 0.030593 0 0 CBR3 874 broad.mit.edu 37 21 37507778 37507778 + Splice_Site SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr21:37507778G>A ENST00000290354.5 + 1 569 c.289_splice c.e1+1 p.K96_splice CBR3-AS1_ENST00000413862.1_RNA|CBR3-AS1_ENST00000453159.1_RNA NM_001236.3 NP_001227.1 O75828 CBR3_HUMAN carbonyl reductase 3 96 cytosol|nucleus carbonyl reductase (NADPH) activity|NADPH binding kidney(1)|large_intestine(1)|lung(1) 3 TCGCCTTCAAGAGTAGGTGCA 0.672000 8 28 0 0 0.004482 0 0 DIS3 22894 broad.mit.edu 37 13 73349381 73349381 + Missense_Mutation SNP C C T TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr13:73349381C>T ENST00000377767.4 - 6 1055 c.955G>A c.(955-957)Gat>Aat p.D319N DIS3_ENST00000545453.1_Missense_Mutation_p.D157N|DIS3_ENST00000377780.4_Missense_Mutation_p.D289N NM_014953.3 NP_055768.3 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control homolog (S. cerevisiae) 319 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) TTCTCCACATCTTCTTCATTT 0.393000 Multiple Myeloma(4;0.011) 22 99 0 0 0.012319 0 0 TOMM20L 387990 broad.mit.edu 37 14 58863033 58863033 + Nonsense_Mutation SNP C C T TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr14:58863033C>T ENST00000360945.2 + 2 196 c.154C>T c.(154-156)Caa>Taa p.Q52* NM_207377.2 NP_997260.1 Q6UXN7 TO20L_HUMAN translocase of outer mitochondrial membrane 20 homolog (yeast)-like 52 protein targeting integral to membrane|mitochondrial outer membrane translocase complex large_intestine(2)|lung(2) 4 AGCAGAGCCTCAAAAGGCTGA 0.657000 8 35 0 0 0.008291 0 0 ADAM30 11085 broad.mit.edu 37 1 120438365 120438365 + Missense_Mutation SNP A A G TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr1:120438365A>G ENST00000369400.1 - 1 753 c.595T>C c.(595-597)Tat>Cat p.Y199H NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 199 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) GGGTGTTTATAGGATCCAGGA 0.408000 3 119 0 0 0.009096 0 0 NOL4 8715 broad.mit.edu 37 18 31463212 31463212 + Silent SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr18:31463212G>A ENST00000261592.5 - 10 2016 c.1719C>T c.(1717-1719)agC>agT p.S573S NOL4_ENST00000535384.1_Silent_p.S288S|NOL4_ENST00000538587.1_Silent_p.S499S|NOL4_ENST00000269185.4_Silent_p.S357S|NOL4_ENST00000535475.1_Silent_p.S354S|NOL4_ENST00000589544.1_Silent_p.S471S NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 573 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 ACTCACCACTGCTGGAAGCAT 0.383000 33 159 0 0 0.021022 0 0 TENM2 57451 broad.mit.edu 37 5 167553841 167553841 + Silent SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr5:167553841G>A ENST00000519204.1 + 11 2047 c.1929G>A c.(1927-1929)gcG>gcA p.A643A TENM2_ENST00000403607.2_Silent_p.A597A|TENM2_ENST00000545108.1_Silent_p.A764A|TENM2_ENST00000520394.1_Silent_p.A532A|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000518659.1_Silent_p.A764A teneurin transmembrane protein 2 CAGGCGCAGCGTGTGACCAGC 0.587000 4 30 0 0 0.009096 0 0 ALG3 10195 broad.mit.edu 37 3 183966696 183966696 + Silent SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr3:183966696G>A ENST00000397676.3 - 1 63 c.33C>T c.(31-33)tcC>tcT p.S11S EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000445626.2_Intron|ALG3_ENST00000455059.1_Intron|ALG3_ENST00000418734.2_5'UTR NM_005787.5 NP_005778.1 Q92685 ALG3_HUMAN ALG3, alpha-1,3- mannosyltransferase 11 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane alpha-1,3-mannosyltransferase activity kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 9 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CCGCGGAACCGGACCGGCCGC 0.697000 4 7 0 0 0.014758 0 0 TMEM63A 9725 broad.mit.edu 37 1 226036682 226036682 + Silent SNP G G A TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr1:226036682G>A ENST00000366835.3 - 22 2373 c.2103C>T c.(2101-2103)ttC>ttT p.F701F NM_014698.2 NP_055513.2 O94886 TM63A_HUMAN transmembrane protein 63A 701 integral to membrane|lysosomal membrane nucleotide binding breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Breast(184;0.197) GCAGCACCAGGAAGGTGAACA 0.612000 4 10 0 0 0.009096 0 0 FAM155A 728215 broad.mit.edu 37 13 107823105 107823105 + Missense_Mutation SNP C C T TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr13:107823105C>T ENST00000375915.2 - 3 1255 c.1117G>A c.(1117-1119)Gaa>Aaa p.E373K NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 373 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 CATTCTGGTTCATCATTGGTT 0.443000 5 66 0 0 0.029380 0 0 PCDHGA12 0 broad.mit.edu 37 5 140810404 140810404 + Silent SNP C C T TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr5:140810404C>T ENST00000252085.3 + 1 220 c.78C>T c.(76-78)acC>acT p.T26T PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTGGGAGACCGGATGCACCC 0.582000 11 202 0 0 0.008291 0 0 OR8H2 390151 broad.mit.edu 37 11 55872901 55872901 + Missense_Mutation SNP G G C TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr11:55872901G>C ENST00000313503.1 + 1 383 c.383G>C c.(382-384)aGt>aCt p.S128T NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 128 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) GCGATCTGCAGTCCTCTACAC 0.478000 HNSCC(53;0.14) 68 234 0 0 0.014410 0 0 TMEM50B 757 broad.mit.edu 37 21 34837657 34837657 + Missense_Mutation SNP C C T TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr21:34837657C>T ENST00000542230.2 - 4 486 c.272G>A c.(271-273)gGa>gAa p.G91E NM_006134.6 NP_006125.2 P56557 TM50B_HUMAN transmembrane protein 50B 91 endoplasmic reticulum|integral to membrane|plasma membrane breast(1)|kidney(1)|ovary(1)|skin(1) 4 ACCTGTTCTTCCTAAACAGCC 0.388000 5 82 0 0 0.014758 0 0 ZNF710 374655 broad.mit.edu 37 15 90611785 90611785 + Silent SNP C C T TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr15:90611785C>T ENST00000268154.4 + 2 1667 c.1416C>T c.(1414-1416)ttC>ttT p.F472F NM_198526.2 NP_940928.2 Q8N1W2 ZN710_HUMAN zinc finger protein 710 472 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 19 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129) GCATGGAGTTCAGCCAGATTC 0.577000 15 167 0 0 0.024245 0 0 ZNF318 24149 broad.mit.edu 37 6 43323502 43323502 + Frame_Shift_Del DEL T T - TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr6:43323502delT ENST00000361428.2 - 4 1647 c.1570delA c.(1570-1572)ggfs p.R526fs ZNF318_ENST00000318149.3_Frame_Shift_Del_p.R526fs NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 526 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CTACGTCGCCTTTTTTCCTGT 0.493 7 489 --- --- --- --- ATM 472 broad.mit.edu 37 11 108098397 108098397 + Frame_Shift_Del DEL G G - TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr11:108098397delG ENST00000278616.4 + 2 431 c.46delG c.(46-48)aafs p.E16fs ATM_ENST00000452508.2_Frame_Shift_Del_p.E16fs NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 16 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) CCGTCAACTAGAACATGATAG 0.308 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 19 77 --- --- --- --- IRF9 10379 broad.mit.edu 37 14 24635431 24635434 + Frame_Shift_Del DEL CACC CACC - TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr14:24635431_24635434delCACC ENST00000557894.1 + 9 1221_1224 c.1029_1032delCACC c.(1027-1032)ctfs p.LT343fs RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000396864.3_3'UTR Q00978 IRF9_HUMAN interferon regulatory factor 9 0 interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|nucleoplasm DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 GBM - Glioblastoma multiforme(265;0.00853) TCTTCCACCTCACCTCTTTGTTCT 0.510 8 28 --- --- --- --- ZC3H18 124245 broad.mit.edu 37 16 88690386 88690386 + Frame_Shift_Del DEL C C - TCGA-EL-A3CT-01A-12D-A202-08 TCGA-EL-A3CT-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx afa08b6e-69fb-475a-8f0a-da2e16322f75 6bf93a67-763d-4577-9045-f51320f3a10a g.chr16:88690386delC ENST00000301011.5 + 11 2014 c.1814delC c.(1813-1815)tcfs p.S605fs ZC3H18_ENST00000452588.2_Frame_Shift_Del_p.S629fs NM_144604.3 NP_653205.3 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 605 Ser-rich. nucleus nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 42 BRCA - Breast invasive adenocarcinoma(80;0.0542) TTCTCTTCGTCCCCGTCCCCG 0.647 24 127 --- --- --- ---