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 FAM66D 0 broad.mit.edu 37 8 11986719 11986719 + RNA SNP G G C TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr8:11986719G>C ENST00000434078.2 + 0 608 NR_027425.1 TGGATTTCAGGAAAAGCTGCA 0.522000 4 152 0 0 0.009096 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45127107 45127107 + RNA SNP C C G rs147409399 by1000genomes TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr17:45127107C>G ENST00000575173.1 - 0 418 CCTTCGTTCACCCAAGAGCAT 0.592000 4 105 0 0 0.001168 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40308702 40308702 + Splice_Site SNP G G A TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr15:40308702G>A ENST00000263791.5 + 28 3802 c.e28-1 EIF2AK4_ENST00000382727.2_Splice_Site NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) TTGCTTTCCAGCTGTGTCGAC 0.473000 3 49 0 0 0.009096 0 0 NOTCH2 4853 broad.mit.edu 37 1 120461954 120461954 + Missense_Mutation SNP T T G TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr1:120461954T>G ENST00000256646.2 - 31 5981 c.5762A>C c.(5761-5763)gAt>gCt p.D1921A NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 1921 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACCTTGGGCATCAGCTGCCAC 0.468000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 3 83 0 0 0.004672 0 0 IGDCC4 57722 broad.mit.edu 37 15 65677333 65677333 + Nonsense_Mutation SNP G G A TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr15:65677333G>A ENST00000352385.2 - 19 3510 c.3301C>T c.(3301-3303)Cag>Tag p.Q1101* IGDCC4_ENST00000558048.1_5'UTR NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 1101 integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 AACAGCGTCTGCCCAGTTCCA 0.662000 OREG0023195 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 129 0 0 0.001168 0 0 HRAS 3265 broad.mit.edu 37 11 533875 533875 + Missense_Mutation SNP G G T rs28933406 TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr11:533875G>T ENST00000417302.1 - 3 368 c.181C>A c.(181-183)Cag>Aag p.Q61K HRAS_ENST00000397594.1_Missense_Mutation_p.Q61K|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61K|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61K|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61K|HRAS_ENST00000468682.2_5'UTR NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61K(61)|p.Q61R(1)|p.Q61E(1) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) TACTCCTCCTGGCCGGCGGTA 0.597000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 47 81 3.68337e-26 9.20843e-26 0.014410 1 0 NFAT5 10725 broad.mit.edu 37 16 69729160 69729160 + Silent SNP A A G TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr16:69729160A>G ENST00000349945.1 + 15 5806 c.4254A>G c.(4252-4254)caA>caG p.Q1418Q NFAT5_ENST00000566899.1_Silent_p.Q1418Q|NFAT5_ENST00000354436.2_Silent_p.Q1494Q|NFAT5_ENST00000432919.1_Silent_p.Q1512Q|NFAT5_ENST00000393742.2_Silent_p.Q1418Q|NFAT5_ENST00000567239.1_Silent_p.Q1511Q NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 1494 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 TTTCTCAGCAAATGCCAGAGA 0.463000 14 72 0 0 0.001855 0 0 NBPF9 400818 broad.mit.edu 37 1 144828704 144828704 + Missense_Mutation SNP T T G TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr1:144828704T>G ENST00000338347.4 + 14 1750 c.1750T>G c.(1750-1752)Tac>Gac p.Y584D NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_Missense_Mutation_p.Y182D|NBPF9_ENST00000440491.2_3'UTR neuroblastoma breakpoint family, member 9 p.L657L(3)|p.Y584D(1) NS(2)|prostate(1) 3 CTTCGCCCTTTACGTGGACAA 0.438000 4 223 0 0 0.003080 0 0 TIAM2 26230 broad.mit.edu 37 6 155458519 155458519 + Missense_Mutation SNP T T A TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr6:155458519T>A ENST00000461783.3 + 7 2676 c.1403T>A c.(1402-1404)aTg>aAg p.M468K TIAM2_ENST00000360366.4_Missense_Mutation_p.M468K|TIAM2_ENST00000456144.1_Missense_Mutation_p.M468K|TIAM2_ENST00000529824.2_Missense_Mutation_p.M468K|TIAM2_ENST00000318981.5_Missense_Mutation_p.M468K|TIAM2_ENST00000367174.2_5'UTR Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 468 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) GAGTTGGAAATGAGCAGGACC 0.493000 6 171 0 0 0.001168 0 0 LAMP5 24141 broad.mit.edu 37 20 9498782 9498782 + Missense_Mutation SNP G G T TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr20:9498782G>T ENST00000246070.2 + 5 1063 c.571G>T c.(571-573)Gcc>Tcc p.A191S LAMP5_ENST00000427562.2_Missense_Mutation_p.A147S NM_012261.3 NP_036393.1 Q9UJQ1 CT103_HUMAN lysosomal-associated membrane protein family, member 5 191 integral to membrane CATTTCACTGGCCTCTAGTGA 0.507000 24 44 2.21704e-12 5.41369e-12 0.002780 1 0 CCDC150 284992 broad.mit.edu 37 2 197521549 197521549 + Silent SNP T T A TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr2:197521549T>A ENST00000389175.4 + 3 504 c.369T>A c.(367-369)acT>acA p.T123T CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000472405.2_Silent_p.T20T|CCDC150_ENST00000272831.7_Intron NM_001080539.1 NP_001074008.1 Q8NCX0 CC150_HUMAN coiled-coil domain containing 150 123 breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GGCTGCAAACTGAAAAGGATT 0.388000 4 46 0 0 0.009096 0 0 TRIB2 28951 broad.mit.edu 37 2 12864844 12864844 + Missense_Mutation SNP A A C TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr2:12864844A>C ENST00000405331.3 + 3 723 c.653A>C c.(652-654)cAc>cCc p.H218P TRIB2_ENST00000155926.4_Intron|TRIB2_ENST00000381465.2_Intron Q92519 TRIB2_HUMAN tribbles pseudokinase 2 0 Protein kinase. negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity cytoplasm|cytoskeleton|nucleus ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1) 19 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GTCTGTTTCCACCCTCCCCCT 0.473000 11 350 0 0 0.006320 0 0 XPNPEP1 7511 broad.mit.edu 37 10 111642324 111642324 + Missense_Mutation SNP C C T TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr10:111642324C>T ENST00000369680.4 - 10 1026 c.778G>A c.(778-780)Gaa>Aaa p.E260K XPNPEP1_ENST00000430337.1_5'UTR|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.E303K|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.E189K|XPNPEP1_ENST00000502935.1_Missense_Mutation_p.E303K NM_020383.3 NP_065116.3 Q9NQW7 XPP1_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 1, soluble 260 bradykinin catabolic process|proteolysis manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1) 31 Breast(234;0.174) Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721) ATCCTGTATTCGGCTTCCAGA 0.572000 36 82 0 0 0.004878 0 0 DLGAP5 9787 broad.mit.edu 37 14 55637441 55637441 + Missense_Mutation SNP C C G TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr14:55637441C>G ENST00000247191.2 - 11 1582 c.1366G>C c.(1366-1368)Gaa>Caa p.E456Q DLGAP5_ENST00000395425.2_Missense_Mutation_p.E456Q NM_014750.4 NP_055565.3 Q15398 DLGP5_HUMAN discs, large (Drosophila) homolog-associated protein 5 456 cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition nucleus|spindle pole centrosome phosphoprotein phosphatase activity|protein binding biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 44 ATGTCCAATTCAAGTTTCCTG 0.333000 28 40 0 0 0.009535 0 0 MROH1 727957 broad.mit.edu 37 8 145235189 145235189 + Missense_Mutation SNP A A C TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr8:145235189A>C ENST00000528919.1 + 5 530 c.409A>C c.(409-411)Acc>Ccc p.T137P MROH1_ENST00000534366.1_Missense_Mutation_p.T137P|MROH1_ENST00000423230.2_Missense_Mutation_p.T137P|MROH1_ENST00000326134.5_Missense_Mutation_p.T137P|MROH1_ENST00000398656.4_Missense_Mutation_p.T137P NM_032450.2 NP_115826.2 maestro heat-like repeat family member 1 GCACCCTGGGACCCTGCCACA 0.697000 5 50 0 0 0.004482 0 0 TMEM143 55260 broad.mit.edu 37 19 48863423 48863423 + Missense_Mutation SNP G G C TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr19:48863423G>C ENST00000293261.3 - 3 591 c.275C>G c.(274-276)tCg>tGg p.S92W TMEM143_ENST00000436660.2_Missense_Mutation_p.S92W|TMEM143_ENST00000377431.2_Intron|TMEM143_ENST00000435956.3_Intron|TMEM143_ENST00000541566.1_Intron NM_018273.2 NP_060743.2 Q96AN5 TM143_HUMAN transmembrane protein 143 92 integral to membrane|mitochondrion endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 14 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157) TGCCGGACTCGAGTGGAATTC 0.562000 3 57 0 0 0.009096 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 4 92 0 0 0.009096 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 7 53 0 0 0.003080 0 0 FAM66D 0 broad.mit.edu 37 8 11986736 11986736 + RNA SNP T T C TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr8:11986736T>C ENST00000434078.2 + 0 608 NR_027425.1 TGCATCTGGCTGAGAAGATGT 0.507000 4 156 0 0 0.009096 0 0 AKAP11 11215 broad.mit.edu 37 13 42874704 42874704 + Nonsense_Mutation SNP A A T TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr13:42874704A>T ENST00000025301.2 + 8 1997 c.1822A>T c.(1822-1824)Aaa>Taa p.K608* NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 608 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) ATTTTCACTAAAAGAACGTGC 0.383000 5 42 0 0 0.000602 0 0 COL4A4 1286 broad.mit.edu 37 2 227979396 227979396 + Missense_Mutation SNP T T C TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr2:227979396T>C ENST00000396625.3 - 8 713 c.506A>G c.(505-507)aAg>aGg p.K169R COL4A4_ENST00000329662.7_Missense_Mutation_p.K169R NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 169 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) TTTTTCTCCCTTTTCCCCAGG 0.299000 3 55 0 0 0.004672 0 0 ZXDB 158586 broad.mit.edu 37 X 57619097 57619097 + Missense_Mutation SNP G G A TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chrX:57619097G>A ENST00000374888.1 + 1 829 c.616G>A c.(616-618)Ggg>Agg p.G206R NM_007157.3 NP_009088.1 P98169 ZXDB_HUMAN zinc finger, X-linked, duplicated B 206 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding p.G206R(2) NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6) 27 CCAGCAGCCCGGGTGTCTGAT 0.711000 3 38 0 0 0.004672 0 0 AC024560.3 0 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 3 69 0 0 0.004672 0 0 KIAA0100 9703 broad.mit.edu 37 17 26961608 26961608 + Silent SNP A A G TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr17:26961608A>G ENST00000528896.2 - 16 3071 c.2997T>C c.(2995-2997)ccT>ccC p.P999P RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Silent_p.P856P|KIAA0100_ENST00000389003.3_Silent_p.P856P NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 999 extracellular region p.P999P(1) breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) CAGGGGGAAAAGGGCTGCCTG 0.493000 3 148 0 0 0.009096 0 0 SCUBE1 80274 broad.mit.edu 37 22 43619190 43619190 + Missense_Mutation SNP A A G TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr22:43619190A>G ENST00000360835.3 - 11 1366 c.1240T>C c.(1240-1242)Tcc>Ccc p.S414P NM_173050.3 NP_766638.2 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 414 adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) GCCCGGGGGGAGGTCTTGGCG 0.647000 4 108 0 0 0.001168 0 0 HLA-DRB6 0 broad.mit.edu 37 6 32522722 32522722 + RNA SNP C C A rs114905475 by1000genomes TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr6:32522722C>A ENST00000411500.1 - 0 484 NR_001298.1 TGGGTCTTTGCAGGATACACA 0.488000 4 31 2.56e-06 6.10909e-06 0.009096 1 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 5 68 0 0 0.000602 0 0 NPIPB6 728741 broad.mit.edu 37 16 28354353 28354353 + Missense_Mutation SNP T T G rs1794256 by1000genomes TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr16:28354353T>G ENST00000532254.1 - 7 1538 c.853A>C c.(853-855)Act>Cct p.T285P NPIPB6_ENST00000533640.1_Missense_Mutation_p.T267P nuclear pore complex interacting protein family, member B6 p.T285P(4) AGACACTCAGTAGGTGTCTTG 0.507000 4 129 0 0 0.004482 0 0 SIRPB1 10326 broad.mit.edu 37 20 1585397 1585397 + Missense_Mutation SNP T T C rs148754551 by1000genomes TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr20:1585397T>C ENST00000279477.7 - 3 806 c.742A>G c.(742-744)Acc>Gcc p.T248A SIRPB1_ENST00000381605.4_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381603.3_Intron NM_001135844.2 NP_001129316.1 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 248 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding p.T248A(5) central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CCTCGGATGGTCTCAGACAAG 0.627000 5 100 0 0 0.000602 0 0 ANTXR2 118429 broad.mit.edu 37 4 80992749 80992749 + Missense_Mutation SNP T T C TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr4:80992749T>C ENST00000403729.2 - 2 737 c.212A>G c.(211-213)gAg>gGg p.E71G ANTXR2_ENST00000346652.6_Missense_Mutation_p.E71G|ANTXR2_ENST00000404191.1_5'UTR|ANTXR2_ENST00000307333.7_Missense_Mutation_p.E71G|ANTXR2_ENST00000295465.4_Missense_Mutation_p.E71G NM_058172.5 NP_477520.2 P58335 ANTR2_HUMAN anthrax toxin receptor 2 71 VWFA. endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane metal ion binding|protein binding|receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 13 CACAAATCTCTCCGCAAGTTG 0.368000 Juvenile Hyaline Fibromatosis 26 26 0 0 0.004656 0 0 ZNF322 79692 broad.mit.edu 37 6 26638435 26638435 + Missense_Mutation SNP C C G TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr6:26638435C>G ENST00000415922.2 - 4 992 c.347G>C c.(346-348)gGa>gCa p.G116A ZNF322_ENST00000471278.1_Missense_Mutation_p.G116A NM_024639.4 NP_078915.2 Q6U7Q0 Z322A_HUMAN zinc finger protein 322 116 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding TCTCTGATGTCCTGAAAGCGC 0.413000 3 126 0 0 0.004672 0 0 MYRIP 25924 broad.mit.edu 37 3 40223732 40223732 + Missense_Mutation SNP A A G TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr3:40223732A>G ENST00000302541.6 + 9 1237 c.895A>G c.(895-897)Atc>Gtc p.I299V MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000444716.1_Missense_Mutation_p.I299V|MYRIP_ENST00000539167.1_Missense_Mutation_p.I112V|MYRIP_ENST00000425621.1_Missense_Mutation_p.I299V|MYRIP_ENST00000396217.3_Missense_Mutation_p.I210V NM_015460.2 NP_056275.2 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 299 Myosin-binding. intracellular protein transport actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) TGCCTTCTCAATCACTGGAGA 0.592000 4 128 0 0 0.009096 0 0 ALG1L2 0 broad.mit.edu 37 3 129814807 129814807 + RNA DEL G G - rs71158106 TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr3:129814807delG ENST00000507643.1 + 0 456 C9J202 AG1L2_HUMAN biosynthetic process transferase activity, transferring glycosyl groups CACTCCCCTCGGGGGGTGTTG 0.607 2 4 --- --- --- --- RP11-242J7.1 0 broad.mit.edu 37 4 185536410 185536413 + RNA DEL TTTG TTTG - rs146473442 TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr4:185536410_185536413delTTTG ENST00000522554.1 - 0 292 CAAAGCCGATtttgtttgtttgtt 0.451 6 8 --- --- --- ---