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 ZBTB40 9923 broad.mit.edu 37 1 22828886 22828886 + Missense_Mutation SNP G G T TCGA-KC-A4BL-01A-31D-A257-08 TCGA-KC-A4BL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6a47f6-a38c-4f94-bac9-81fb034fb62d 6e7ac799-87c3-4d22-bad2-57f73e88124f g.chr1:22828886G>T ENST00000404138.1 + 6 1630 c.1119G>T c.(1117-1119)gaG>gaT p.E373D ZBTB40_ENST00000374651.4_Intron|ZBTB40_ENST00000375647.4_Missense_Mutation_p.E373D NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 373 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-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;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CTATTATGGAGTCCCTGGAAA 0.473 6 122 --- --- --- --- ARID1A 8289 broad.mit.edu 37 1 27105656 27105656 + Missense_Mutation SNP C C G TCGA-KC-A4BL-01A-31D-A257-08 TCGA-KC-A4BL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6a47f6-a38c-4f94-bac9-81fb034fb62d 6e7ac799-87c3-4d22-bad2-57f73e88124f g.chr1:27105656C>G ENST00000324856.7 + 20 5638 c.5267C>G c.(5266-5268)cCa>cGa p.P1756R ARID1A_ENST00000374152.2_Missense_Mutation_p.P1373R|ARID1A_ENST00000457599.2_Missense_Mutation_p.P1539R|ARID1A_ENST00000540690.1_Missense_Mutation_p.P84R NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1756 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GTGTCTAGTCCAGCTCCCATG 0.478 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 11 134 --- --- --- --- NBPF10 100132406 broad.mit.edu 37 1 145302833 145302833 + Missense_Mutation SNP G G T TCGA-KC-A4BL-01A-31D-A257-08 TCGA-KC-A4BL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6a47f6-a38c-4f94-bac9-81fb034fb62d 6e7ac799-87c3-4d22-bad2-57f73e88124f g.chr1:145302833G>T ENST00000342960.5 + 8 1306 c.1271G>T c.(1270-1272)aGa>aTa p.R424I NBPF10_ENST00000369339.3_Missense_Mutation_p.R153I|NBPF10_ENST00000369338.1_Missense_Mutation_p.R153I|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 424 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GAGGGGTGTAGACTGGCACAG 0.572 5 249 --- --- --- --- EPRS 2058 broad.mit.edu 37 1 220213574 220213574 + Silent SNP G G A TCGA-KC-A4BL-01A-31D-A257-08 TCGA-KC-A4BL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6a47f6-a38c-4f94-bac9-81fb034fb62d 6e7ac799-87c3-4d22-bad2-57f73e88124f g.chr1:220213574G>A ENST00000366923.3 - 2 353 c.84C>T c.(82-84)gtC>gtT p.V28V NM_004446.2 NP_004437.2 P07814 SYEP_HUMAN glutamyl-prolyl-tRNA synthetase 28 glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) CGGAAATGCTGACATCGTCTT 0.303 7 150 --- --- --- --- NCL 4691 broad.mit.edu 37 2 232320221 232320221 + Silent SNP A A G TCGA-KC-A4BL-01A-31D-A257-08 TCGA-KC-A4BL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6a47f6-a38c-4f94-bac9-81fb034fb62d 6e7ac799-87c3-4d22-bad2-57f73e88124f g.chr2:232320221A>G ENST00000322723.4 - 13 2187 c.1947T>C c.(1945-1947)ggT>ggC p.G649G NM_005381.2 NP_005372.2 P19338 NUCL_HUMAN nucleolin 649 Arg/Gly/Phe-rich. angiogenesis cell cortex|nucleolus|ribonucleoprotein complex nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3) 35 Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18) AGCCACCTTCACCCTTAGGTT 0.577 39 413 --- --- --- --- GPR171 29909 broad.mit.edu 37 3 150917004 150917004 + Missense_Mutation SNP A A C TCGA-KC-A4BL-01A-31D-A257-08 TCGA-KC-A4BL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6a47f6-a38c-4f94-bac9-81fb034fb62d 6e7ac799-87c3-4d22-bad2-57f73e88124f g.chr3:150917004A>C ENST00000309180.5 - 3 400 c.170T>G c.(169-171)cTt>cGt p.L57R MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron NM_013308.3 NP_037440.3 O14626 GP171_HUMAN G protein-coupled receptor 171 57 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 15 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ATCGGCTGTAAGCAAATTAAT 0.403 4 124 --- --- --- --- MECOM 2122 broad.mit.edu 37 3 168807797 168807797 + Missense_Mutation SNP G G T TCGA-KC-A4BL-01A-31D-A257-08 TCGA-KC-A4BL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6a47f6-a38c-4f94-bac9-81fb034fb62d 6e7ac799-87c3-4d22-bad2-57f73e88124f g.chr3:168807797G>T ENST00000464456.1 - 13 4001 c.2801C>A c.(2800-2802)tCc>tAc p.S934Y MECOM_ENST00000468789.1_Missense_Mutation_p.S943Y|MECOM_ENST00000460814.1_Missense_Mutation_p.S934Y|MECOM_ENST00000392736.3_Missense_Mutation_p.S943Y|MECOM_ENST00000494292.1_Missense_Mutation_p.S1122Y|MECOM_ENST00000472280.1_Missense_Mutation_p.S944Y|MECOM_ENST00000264674.3_Missense_Mutation_p.S1008Y|MECOM_ENST00000433243.2_Missense_Mutation_p.S944Y NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 CCTCACTGGGGATGTCTTGCA 0.428 5 122 --- --- --- --- SFRP2 6423 broad.mit.edu 37 4 154709577 154709577 + Silent SNP G G A TCGA-KC-A4BL-01A-31D-A257-08 TCGA-KC-A4BL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6a47f6-a38c-4f94-bac9-81fb034fb62d 6e7ac799-87c3-4d22-bad2-57f73e88124f g.chr4:154709577G>A ENST00000274063.4 - 1 695 c.411C>T c.(409-411)ccC>ccT p.P137P NM_003013.2 NP_003004.1 Q96HF1 SFRP2_HUMAN secreted frizzled-related protein 2 137 FZ. brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development cytoplasm|extracellular matrix|extracellular space|plasma membrane fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 16 all_hematologic(180;0.093) Renal(120;0.117) CAAGCATGTCGGGCCAGGGGA 0.637 8 162 --- --- --- --- HSD17B4 3295 broad.mit.edu 37 5 118837734 118837734 + Splice_Site SNP A A G TCGA-KC-A4BL-01A-31D-A257-08 TCGA-KC-A4BL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6a47f6-a38c-4f94-bac9-81fb034fb62d 6e7ac799-87c3-4d22-bad2-57f73e88124f g.chr5:118837734A>G ENST00000504811.1 + 15 1468 c.e15-1 HSD17B4_ENST00000515320.1_Splice_Site|HSD17B4_ENST00000256216.6_Splice_Site|HSD17B4_ENST00000509514.1_Splice_Site|HSD17B4_ENST00000414835.2_Splice_Site|HSD17B4_ENST00000513628.1_Splice_Site|HSD17B4_ENST00000510025.1_Splice_Site NM_001199291.1 NP_001186220.1 P51659 DHB4_HUMAN hydroxysteroid (17-beta) dehydrogenase 4 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2) 25 all_cancers(142;0.0206)|Prostate(80;0.0322) OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122) NADH(DB00157) ACCCTAACATAGGTTCTTCAT 0.368 9 143 --- --- --- --- FUCA2 2519 broad.mit.edu 37 6 143828561 143828561 + Splice_Site SNP C C T TCGA-KC-A4BL-01A-31D-A257-08 TCGA-KC-A4BL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6a47f6-a38c-4f94-bac9-81fb034fb62d 6e7ac799-87c3-4d22-bad2-57f73e88124f g.chr6:143828561C>T ENST00000002165.6 - 2 280 c.225G>A c.(223-225)tgG>tgA p.W75* FUCA2_ENST00000367585.1_5'UTR|FUCA2_ENST00000438118.2_Splice_Site_p.W75* NM_032020.4 NP_114409.2 Q9BTY2 FUCO2_HUMAN fucosidase, alpha-L- 2, plasma fucose metabolic process extracellular region alpha-L-fucosidase activity|cation binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142) GCCAATACCACCTAAGGGGAG 0.388 8 117 --- --- --- --- VPS13B 157680 broad.mit.edu 37 8 100160146 100160146 + Missense_Mutation SNP A A G TCGA-KC-A4BL-01A-31D-A257-08 TCGA-KC-A4BL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6a47f6-a38c-4f94-bac9-81fb034fb62d 6e7ac799-87c3-4d22-bad2-57f73e88124f g.chr8:100160146A>G ENST00000395996.1 + 14 2032 c.1921A>G c.(1921-1923)Aca>Gca p.T641A VPS13B_ENST00000357162.2_Missense_Mutation_p.T641A|VPS13B_ENST00000358544.2_Missense_Mutation_p.T641A|VPS13B_ENST00000355155.1_Missense_Mutation_p.T641A Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 641 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TACTCGACATACAAGTGTTAC 0.343 4 239 --- --- --- --- SPATC1 375686 broad.mit.edu 37 8 145094892 145094892 + Silent SNP C C T rs151043400 TCGA-KC-A4BL-01A-31D-A257-08 TCGA-KC-A4BL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6a47f6-a38c-4f94-bac9-81fb034fb62d 6e7ac799-87c3-4d22-bad2-57f73e88124f g.chr8:145094892C>T ENST00000377470.3 + 2 396 c.294C>T c.(292-294)gcC>gcT p.A98A SPATC1_ENST00000447830.2_Silent_p.A98A NM_198572.2 NP_940974.2 Q76KD6 SPERI_HUMAN spermatogenesis and centriole associated 1 98 NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CACCCCTGGCCGAGATGCTAA 0.637 4 129 --- --- --- --- PRPF19 27339 broad.mit.edu 37 11 60668386 60668386 + Missense_Mutation SNP T T C TCGA-KC-A4BL-01A-31D-A257-08 TCGA-KC-A4BL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6a47f6-a38c-4f94-bac9-81fb034fb62d 6e7ac799-87c3-4d22-bad2-57f73e88124f g.chr11:60668386T>C ENST00000227524.4 - 9 863 c.658A>G c.(658-660)Agc>Ggc p.S220G NM_014502.4 NP_055317.1 Q9UMS4 PRP19_HUMAN pre-mRNA processing factor 19 220 DNA repair|protein polyubiquitination|spliceosome assembly catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 22 CCAGGAATGCTGGCACTGTGC 0.607 8 79 --- --- --- --- RELA 5970 broad.mit.edu 37 11 65426194 65426194 + Missense_Mutation SNP T T C TCGA-KC-A4BL-01A-31D-A257-08 TCGA-KC-A4BL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6a47f6-a38c-4f94-bac9-81fb034fb62d 6e7ac799-87c3-4d22-bad2-57f73e88124f g.chr11:65426194T>C ENST00000525693.1 - 7 721 c.659A>G c.(658-660)cAg>cGg p.Q220R RELA_ENST00000406246.3_Missense_Mutation_p.Q220R|RELA_ENST00000308639.9_Missense_Mutation_p.Q217R Q04206 TF65_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog A 220 RHD. anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|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|transcription factor complex activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1) 19 TATACCTTTCTGCACCTTGTC 0.562 16 146 --- --- --- --- ERC1 23085 broad.mit.edu 37 12 1192464 1192464 + Missense_Mutation SNP G G T TCGA-KC-A4BL-01A-31D-A257-08 TCGA-KC-A4BL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6a47f6-a38c-4f94-bac9-81fb034fb62d 6e7ac799-87c3-4d22-bad2-57f73e88124f g.chr12:1192464G>T ENST00000397203.2 + 3 1210 c.804G>T c.(802-804)caG>caT p.Q268H ERC1_ENST00000543086.3_Missense_Mutation_p.Q268H|ERC1_ENST00000360905.4_Missense_Mutation_p.Q268H|ERC1_ENST00000355446.5_Missense_Mutation_p.Q268H|ERC1_ENST00000546231.2_Missense_Mutation_p.Q268H|ERC1_ENST00000589028.1_Missense_Mutation_p.Q268H Q8IUD2 RB6I2_HUMAN ELKS/RAB6-interacting/CAST family member 1 268 I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) AGAACTTTCAGAGGCTTCATG 0.507 10 74 --- --- --- --- TFDP1 7027 broad.mit.edu 37 13 114290866 114290866 + Missense_Mutation SNP A A G TCGA-KC-A4BL-01A-31D-A257-08 TCGA-KC-A4BL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6a47f6-a38c-4f94-bac9-81fb034fb62d 6e7ac799-87c3-4d22-bad2-57f73e88124f g.chr13:114290866A>G ENST00000375370.5 + 10 1069 c.857A>G c.(856-858)aAt>aGt p.N286S TFDP1_ENST00000538138.1_Missense_Mutation_p.N191S|TFDP1_ENST00000544902.1_Missense_Mutation_p.N191S NM_007111.4 NP_009042.1 Q14186 TFDP1_HUMAN transcription factor Dp-1 286 DCB2.|Enhances binding of RB protein to E2F. cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153) all cancers(43;0.0576) TATCTGTTTAATTTTGACAAC 0.542 TSP Lung(29;0.18) 6 128 --- --- --- --- AHNAK2 113146 broad.mit.edu 37 14 105419654 105419654 + Missense_Mutation SNP G G A rs150847607 by1000genomes TCGA-KC-A4BL-01A-31D-A257-08 TCGA-KC-A4BL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6a47f6-a38c-4f94-bac9-81fb034fb62d 6e7ac799-87c3-4d22-bad2-57f73e88124f g.chr14:105419654G>A ENST00000333244.5 - 7 2253 c.2134C>T c.(2134-2136)Ctc>Ttc p.L712F AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 712 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TGCATGGAGAGGAGGCTCACG 0.617 5 328 --- --- --- --- NLRC5 84166 broad.mit.edu 37 16 57101678 57101678 + Missense_Mutation SNP T T A TCGA-KC-A4BL-01A-31D-A257-08 TCGA-KC-A4BL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6a47f6-a38c-4f94-bac9-81fb034fb62d 6e7ac799-87c3-4d22-bad2-57f73e88124f g.chr16:57101678T>A ENST00000436936.1 + 36 4662 c.4437T>A c.(4435-4437)gaT>gaA p.D1479E NLRC5_ENST00000262510.6_Missense_Mutation_p.D1479E|NLRC5_ENST00000308149.7_Missense_Mutation_p.D1450E|NLRC5_ENST00000539144.1_Missense_Mutation_p.D1450E Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 1479 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) GTGAGGACGATGATGCCAGTT 0.507 4 159 --- --- --- --- KRTAP9-2 83899 broad.mit.edu 37 17 39383026 39383026 + Silent SNP C C T TCGA-KC-A4BL-01A-31D-A257-08 TCGA-KC-A4BL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6a47f6-a38c-4f94-bac9-81fb034fb62d 6e7ac799-87c3-4d22-bad2-57f73e88124f g.chr17:39383026C>T ENST00000377721.3 + 1 127 c.120C>T c.(118-120)ccC>ccT p.P40P KRTAP9-2_ENST00000455970.2_Silent_p.P40P NM_031961.2 NP_114167.2 Q9BYQ4 KRA92_HUMAN keratin associated protein 9-2 40 17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP]. keratin filament protein binding large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 11 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) GCTGCCAGCCCGCCTGCTGTG 0.637 10 183 --- --- --- --- CBX4 8535 broad.mit.edu 37 17 77807801 77807801 + Missense_Mutation SNP G G A TCGA-KC-A4BL-01A-31D-A257-08 TCGA-KC-A4BL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6a47f6-a38c-4f94-bac9-81fb034fb62d 6e7ac799-87c3-4d22-bad2-57f73e88124f g.chr17:77807801G>A ENST00000269397.4 - 5 1817 c.1640C>T c.(1639-1641)gCg>gTg p.A547V NM_003655.2 NP_003646.2 O00257 CBX4_HUMAN chromobox homolog 4 547 Interaction with RNF2. anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|PcG protein complex enzyme binding|transcription corepressor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GAGGCAGTTCGCGGTGACGTC 0.622 7 141 --- --- --- --- LILRA5 353514 broad.mit.edu 37 19 54822827 54822827 + Missense_Mutation SNP G G A TCGA-KC-A4BL-01A-31D-A257-08 TCGA-KC-A4BL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6a47f6-a38c-4f94-bac9-81fb034fb62d 6e7ac799-87c3-4d22-bad2-57f73e88124f g.chr19:54822827G>A ENST00000301219.3 - 5 688 c.569C>T c.(568-570)aCc>aTc p.T190I LILRA5_ENST00000346508.3_Missense_Mutation_p.T178I|LILRA5_ENST00000446712.3_Missense_Mutation_p.T178I|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000432233.3_Missense_Mutation_p.T190I NM_021250.2 NP_067073.1 A6NI73 LIRA5_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 190 Ig-like C2-type 2. innate immune response extracellular region|integral to membrane receptor activity breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CCCACTGGGGGTCAGCTGTGA 0.597 4 71 --- --- --- --- ZMYND8 23613 broad.mit.edu 37 20 45927599 45927599 + Missense_Mutation SNP G G C TCGA-KC-A4BL-01A-31D-A257-08 TCGA-KC-A4BL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6a47f6-a38c-4f94-bac9-81fb034fb62d 6e7ac799-87c3-4d22-bad2-57f73e88124f g.chr20:45927599G>C ENST00000311275.7 - 4 520 c.267C>G c.(265-267)ttC>ttG p.F89L ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000396281.4_Missense_Mutation_p.F89L|ZMYND8_ENST00000540497.1_Missense_Mutation_p.F84L|ZMYND8_ENST00000446994.2_Missense_Mutation_p.F64L|ZMYND8_ENST00000536340.1_Missense_Mutation_p.F116L|ZMYND8_ENST00000355972.4_Missense_Mutation_p.F89L|ZMYND8_ENST00000262975.4_Missense_Mutation_p.F89L|ZMYND8_ENST00000352431.2_Missense_Mutation_p.F109L|ZMYND8_ENST00000471951.2_Missense_Mutation_p.F109L|ZMYND8_ENST00000461685.1_Missense_Mutation_p.F109L|ZMYND8_ENST00000458360.2_Missense_Mutation_p.F84L|ZMYND8_ENST00000372023.3_Missense_Mutation_p.F84L|ZMYND8_ENST00000360911.3_Missense_Mutation_p.F84L NM_001281772.1|NM_001281778.1|NM_001281783.1 NP_001268701.1|NP_001268707.1|NP_001268712.1 Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 89 protein binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8) 62 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) CCCAGCAGTAGAAATCATTCC 0.502 4 85 --- --- --- --- MGA 23269 broad.mit.edu 37 15 42041985 42041986 + Frame_Shift_Del DEL AG AG - TCGA-KC-A4BL-01A-31D-A257-08 TCGA-KC-A4BL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac6a47f6-a38c-4f94-bac9-81fb034fb62d 6e7ac799-87c3-4d22-bad2-57f73e88124f g.chr15:42041985_42041986delAG ENST00000219905.7 + 17 6361_6362 c.6180_6181delAG c.(6178-6183)caagatfs p.D2061fs MGA_ENST00000566586.1_Frame_Shift_Del_p.D1852fs|MGA_ENST00000389936.4_Frame_Shift_Del_p.D2022fs|MGA_ENST00000545763.1_Frame_Shift_Del_p.D1852fs|MGA_ENST00000570161.1_Frame_Shift_Del_p.D2061fs NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 2022 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) ATACAGATCAAGATTATAAAGA 0.406 22 204 --- --- --- ---