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 ZMYM2 7750 broad.mit.edu 37 13 20608406 20608406 + Missense_Mutation SNP C C G TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr13:20608406C>G ENST00000382869.3 + 11 2232 c.1981C>G c.(1981-1983)Cag>Gag p.Q661E ZMYM2_ENST00000382883.3_Missense_Mutation_p.Q143E|ZMYM2_ENST00000382874.2_Missense_Mutation_p.Q661E|ZMYM2_ENST00000382871.2_Missense_Mutation_p.Q661E NM_001190965.1|NM_003453.3|NM_197968.2 NP_001177894.1|NP_003444.1|NP_932072.1 Q9UBW7 ZMYM2_HUMAN zinc finger, MYM-type 2 661 regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body ubiquitin conjugating enzyme binding|zinc ion binding large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 10 all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856) CAAAGTGCATCAGTTCTGCAG 0.363000 16 22 0 0 1 0 0 CSAG1 158511 broad.mit.edu 37 X 151909197 151909197 + Missense_Mutation SNP G G T TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chrX:151909197G>T ENST00000370287.3 + 5 554 c.226G>T c.(226-228)Ggc>Tgc p.G76C CSAG1_ENST00000452779.2_Missense_Mutation_p.G76C|CSAG1_ENST00000370291.2_3'UTR NM_153478.1 NP_705611.1 Q6PB30 CSAG1_HUMAN chondrosarcoma associated gene 1 76 central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) AGGAACAAAAGGCTCTCCCTA 0.512000 38 21 1.58521e-26 1.83054e-26 1 1 0 PRDM9 56979 broad.mit.edu 37 5 23526872 23526872 + Missense_Mutation SNP C C T TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr5:23526872C>T ENST00000296682.3 + 11 1857 c.1675C>T c.(1675-1677)Cgg>Tgg p.R559W NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 559 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding p.R559R(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 GGAGTGTGGGCGGGGCTTTAG 0.527000 HNSCC(3;0.000094) 20 77 0 0 1 0 0 RNASE4 6038 broad.mit.edu 37 14 21161760 21161760 + Missense_Mutation SNP G G A TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr14:21161760G>A ENST00000553909.1 + 2 227 c.37G>A c.(37-39)Gtg>Atg p.V13M RP11-903H12.3_ENST00000554286.1_RNA|ANG_ENST00000554073.1_Intron|RNASE4_ENST00000397995.2_Intron|ANG_ENST00000397990.4_Missense_Mutation_p.V13M|RNASE4_ENST00000555597.1_Intron|RNASE4_ENST00000304704.4_5'UTR|ANG_ENST00000336811.6_Missense_Mutation_p.V13M|RNASE4_ENST00000555835.1_Intron NM_001282192.1 NP_001269121.1 GTTGGTCTTCGTGCTGGGTCT 0.577000 22 43 0 0 1 0 0 ARHGAP22 58504 broad.mit.edu 37 10 49791133 49791133 + Missense_Mutation SNP G G T TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr10:49791133G>T ENST00000249601.4 - 2 395 c.99C>A c.(97-99)caC>caA p.H33Q ARHGAP22_ENST00000435790.2_Missense_Mutation_p.H39Q|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.H33Q|ARHGAP22_ENST00000491108.1_5'UTR NM_001256024.1|NM_021226.3 NP_001242953.1|NP_067049.2 Q7Z5H3 RHG22_HUMAN Rho GTPase activating protein 22 33 angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol|nucleus GTPase activator activity endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GGCCCAGCCTGTGAGGGCACG 0.622000 4 173 0.248553 0.251142 1 1 0 NFASC 23114 broad.mit.edu 37 1 204956556 204956556 + Silent SNP C C T TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr1:204956556C>T ENST00000367172.4 + 24 3130 c.2802C>T c.(2800-2802)gcC>gcT p.A934A NFASC_ENST00000338586.6_Silent_p.A934A|NFASC_ENST00000404907.1_Silent_p.A930A|NFASC_ENST00000539706.1_Silent_p.A930A|NFASC_ENST00000367170.4_Silent_p.A934A|NFASC_ENST00000367171.4_Silent_p.A919A|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000367169.4_Silent_p.A827A|NFASC_ENST00000338515.6_Silent_p.A934A|NFASC_ENST00000404076.1_Silent_p.A913A|NFASC_ENST00000339876.6_Silent_p.A827A|NFASC_ENST00000513543.1_Silent_p.A930A|NFASC_ENST00000401399.1_Silent_p.A827A|NFASC_ENST00000360049.4_Silent_p.A930A O94856 NFASC_HUMAN neurofascin 934 Fibronectin type-III 4. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) TACCCAGTGCCCCTAGGCGTT 0.537000 9 26 0 0 1 0 0 PARP14 54625 broad.mit.edu 37 3 122399901 122399901 + Missense_Mutation SNP C C G TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr3:122399901C>G ENST00000474629.2 + 1 437 c.171C>G c.(169-171)ttC>ttG p.F57L NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 57 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) TCCTGGTGTTCTTCTACCCGG 0.672000 10 10 0 0 1 0 0 GPRC5D 55507 broad.mit.edu 37 12 13102644 13102644 + Silent SNP C C T TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr12:13102644C>T ENST00000228887.1 - 1 674 c.675G>A c.(673-675)ctG>ctA p.L225L RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000540198.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA|GPRC5D_ENST00000396333.3_Silent_p.L225L|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000394742.3_RNA NM_018654.1 NP_061124.1 Q9NZD1 GPC5D_HUMAN G protein-coupled receptor, family C, group 5, member D 225 integral to membrane|plasma membrane G-protein coupled receptor activity kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) GGTTGCCTCTCAGGAGCATGG 0.567000 17 47 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803552 142803552 + RNA SNP T T A rs141013493 by1000genomes TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr1:142803552T>A ENST00000423385.1 - 0 1413 TCCTGATGAATCTGCAGTCAG 0.269000 5 83 0 0 1 0 0 RECQL5 9400 broad.mit.edu 37 17 73658559 73658559 + Splice_Site SNP C C A TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr17:73658559C>A ENST00000420326.2 - 4 930 c.771G>T c.(769-771)ggG>ggT p.G257G RECQL5_ENST00000423245.2_Splice_Site_p.G230G|RECQL5_ENST00000340830.5_Splice_Site_p.G257G|RECQL5_ENST00000584999.1_Splice_Site_p.G257G|RECQL5_ENST00000317905.5_Splice_Site_p.G257G NM_001003715.3|NM_001003716.3 NP_001003715.1|NP_001003716.1 O94762 RECQ5_HUMAN RecQ protein-like 5 257 Helicase C-terminal. DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 36 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) AATGCCTCACCCCTTTATCAG 0.478000 Other identified genes with known or suspected DNA repair function 66 198 3.4266e-16 3.91036e-16 1 1 0 CEBPA 1050 broad.mit.edu 37 19 33792453 33792453 + Missense_Mutation SNP C C T TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr19:33792453C>T ENST00000498907.2 - 1 1017 c.868G>A c.(868-870)Gag>Aag p.E290K CTD-2540B15.7_ENST00000587312.1_RNA NM_004364.3 NP_004355.2 P49715 CEBPA_HUMAN CCAAT/enhancer binding protein (C/EBP), alpha 290 cytokine-mediated signaling pathway|generation of precursor metabolites and energy|interspecies interaction between organisms|positive regulation of transcription from RNA polymerase III promoter sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding p.E290*(1)|p.H200_K352>Q(1)|p.?(1) cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1) 920 Esophageal squamous(110;0.137) TTGTTGCGCTCGCGCCGCACC 0.682000 """Mis, N, F""" """AML, MDS""" Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation 13 26 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73376573 73376573 + Missense_Mutation SNP T T A TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr9:73376573T>A ENST00000377110.3 - 8 1459 c.1216A>T c.(1216-1218)Acc>Tcc p.T406S TRPM3_ENST00000377101.1_Missense_Mutation_p.T253S|TRPM3_ENST00000357533.2_Missense_Mutation_p.T408S|TRPM3_ENST00000396280.5_Missense_Mutation_p.T253S|TRPM3_ENST00000423814.3_Missense_Mutation_p.T433S|TRPM3_ENST00000358082.3_Missense_Mutation_p.T278S|TRPM3_ENST00000377106.1_Missense_Mutation_p.T278S|TRPM3_ENST00000396292.4_Missense_Mutation_p.T278S|TRPM3_ENST00000360823.2_Missense_Mutation_p.T278S|TRPM3_ENST00000396285.1_Missense_Mutation_p.T253S|TRPM3_ENST00000377105.1_Missense_Mutation_p.T253S|TRPM3_ENST00000408909.2_Missense_Mutation_p.T253S|TRPM3_ENST00000377111.2_Missense_Mutation_p.T406S Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 TGAGCTTGGGTTCGAGTGTAT 0.438000 6 25 0 0 1 0 0 PAK2 5062 broad.mit.edu 37 3 196533474 196533474 + Missense_Mutation SNP C C G TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr3:196533474C>G ENST00000327134.3 + 6 815 c.493C>G c.(493-495)Ccc>Gcc p.P165A NM_002577.4 NP_002568.2 Q13177 PAK2_HUMAN p21 protein (Cdc42/Rac)-activated kinase 2 165 axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 12 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00405) AACAGAAGCACCCGCAGTAGT 0.493000 11 27 0 0 1 0 0 NCOR1 9611 broad.mit.edu 37 17 15975538 15975538 + Silent SNP C C T TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr17:15975538C>T ENST00000268712.3 - 29 4073 c.3816G>A c.(3814-3816)ctG>ctA p.L1272L NCOR1_ENST00000395857.3_Intron|NCOR1_ENST00000395851.1_Silent_p.L1288L NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 1272 Interaction with ETO. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CTCGGCATATCAGCCCTTCCA 0.378000 10 33 0 0 1 0 0 ZMYND12 84217 broad.mit.edu 37 1 42898923 42898923 + Missense_Mutation SNP G G C TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr1:42898923G>C ENST00000372565.3 - 7 1135 c.866C>G c.(865-867)aCt>aGt p.T289S ZMYND12_ENST00000475426.1_5'UTR|ZMYND12_ENST00000433602.2_Missense_Mutation_p.T179S NM_032257.4 NP_115633.3 Q9H0C1 ZMY12_HUMAN zinc finger, MYND-type containing 12 289 intracellular zinc ion binding NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2) 17 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CAAGATTGAAGTCAGGATGCG 0.433000 5 152 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71508020 71508020 + Missense_Mutation SNP C C T TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr4:71508020C>T ENST00000396073.3 + 9 1158 c.877C>T c.(877-879)Cct>Tct p.P293S ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 293 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) TGGCCCACTCCCTGCAGTCAA 0.512000 20 25 0 0 1 0 0 FAM171A1 221061 broad.mit.edu 37 10 15326078 15326078 + Missense_Mutation SNP C C T TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr10:15326078C>T ENST00000378116.4 - 2 130 c.124G>A c.(124-126)Gac>Aac p.D42N NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 42 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 GTGCTGGCGTCGCTGATGTGC 0.542000 3 35 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125047530 125047530 + Nonsense_Mutation SNP C C T TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr8:125047530C>T ENST00000522917.1 + 19 2505 c.2299C>T c.(2299-2301)Cga>Tga p.R767* FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Nonsense_Mutation_p.R767* NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 767 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TCCTGGGAAACGACCGGCTGG 0.493000 17 47 0 0 1 0 0 ANAPC2 29882 broad.mit.edu 37 9 140070222 140070222 + Missense_Mutation SNP C C T TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr9:140070222C>T ENST00000323927.2 - 11 1962 c.1958G>A c.(1957-1959)cGc>cAc p.R653H ANAPC2_ENST00000487917.1_5'UTR NM_013366.3 NP_037498.1 Q9UJX6 ANC2_HUMAN anaphase promoting complex subunit 2 653 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity anaphase-promoting complex|cytosol|nucleoplasm ubiquitin protein ligase binding|ubiquitin-protein ligase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858) AGACAGCGTGCGGTCGGCCAG 0.662000 9 18 0 0 1 0 0 DIP2A 23181 broad.mit.edu 37 21 47954001 47954001 + Missense_Mutation SNP C C A TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr21:47954001C>A ENST00000318711.7 + 12 1700 c.1517C>A c.(1516-1518)aCa>aAa p.T506K DIP2A_ENST00000457905.3_Missense_Mutation_p.T505K|DIP2A_ENST00000435722.3_Missense_Mutation_p.T505K|DIP2A_ENST00000466639.1_Missense_Mutation_p.T462K|DIP2A_ENST00000417564.2_Missense_Mutation_p.T505K|DIP2A_ENST00000427143.2_Missense_Mutation_p.T441K|DIP2A_ENST00000400274.1_Missense_Mutation_p.T501K NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 505 multicellular organismal development nucleus catalytic activity|transcription factor binding cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) GCCCAGGACACAGGGACTGGG 0.502000 4 22 0.184627 0.188514 1 1 0 KIAA1143 57456 broad.mit.edu 37 3 44803050 44803050 + Silent SNP C C A TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr3:44803050C>A ENST00000296121.4 - 1 104 c.45G>T c.(43-45)ccG>ccT p.P15P NM_020696.3 NP_065747.1 Q96AT1 K1143_HUMAN KIAA1143 15 NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582) CCAGAAACGCCGGCTCGGCTG 0.602000 3 31 0.115264 0.120222 1 1 0 OSR1 130497 broad.mit.edu 37 2 19552087 19552087 + Missense_Mutation SNP C C G TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr2:19552087C>G ENST00000536433.1 - 2 3860 c.750G>C c.(748-750)aaG>aaC p.K250N OSR1_ENST00000272223.2_Missense_Mutation_p.K250N Q8TAX0 OSR1_HUMAN odd-skipped related transciption factor 1 250 chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development nucleolus nucleic acid binding|zinc ion binding breast(1)|large_intestine(2)|lung(4)|ovary(1) 8 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) Acute lymphoblastic leukemia(84;0.221) AGTGTAGCGTCTTGTGGACAG 0.517000 45 63 0 0 1 0 0 OR2T6 254879 broad.mit.edu 37 1 248551442 248551442 + Missense_Mutation SNP T T A TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr1:248551442T>A ENST00000355728.2 + 1 533 c.533T>A c.(532-534)tTc>tAc p.F178Y NM_001005471.1 NP_001005471.1 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, member 6 178 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AATCACTTTTTCTGTGAGGCA 0.532000 4 36 0 0 1 0 0 NDUFA8 4702 broad.mit.edu 37 9 124914591 124914591 + Missense_Mutation SNP C C G TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr9:124914591C>G ENST00000537618.1 - 2 257 c.148G>C c.(148-150)Gag>Cag p.E50Q NDUFA8_ENST00000373768.3_Missense_Mutation_p.E50Q P51970 NDUA8_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa 50 CHCH 1. mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5) 9 NADH(DB00157) GGATCTTTCTCTTCCCAGCGG 0.458000 12 33 0 0 1 0 0 ARID4A 5926 broad.mit.edu 37 14 58831239 58831239 + Missense_Mutation SNP C C T TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr14:58831239C>T ENST00000355431.3 + 20 2805 c.2432C>T c.(2431-2433)tCa>tTa p.S811L ARID4A_ENST00000348476.3_Missense_Mutation_p.S811L|ARID4A_ENST00000395168.3_Missense_Mutation_p.S811L|ARID4A_ENST00000431317.2_Missense_Mutation_p.S811L NM_002892.3 NP_002883.3 P29374 ARI4A_HUMAN AT rich interactive domain 4A (RBP1-like) 811 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 AAGATTTCATCATTTGGCCAG 0.333000 15 43 0 0 1 0 0 ERBB2 2064 broad.mit.edu 37 17 37880257 37880257 + Missense_Mutation SNP C C G TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr17:37880257C>G ENST00000406381.2 + 21 2721 c.2211C>G c.(2209-2211)atC>atG p.I737M ERBB2_ENST00000584601.1_Missense_Mutation_p.I737M|ERBB2_ENST00000584450.1_Missense_Mutation_p.I767M|ERBB2_ENST00000269571.5_Missense_Mutation_p.I767M|ERBB2_ENST00000540147.1_Missense_Mutation_p.I737M|ERBB2_ENST00000541774.1_Missense_Mutation_p.I752M|ERBB2_ENST00000445658.2_Missense_Mutation_p.I491M NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 767 Protein kinase. cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.I767M(2) NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) ACAAAGAAATCTTAGACGTAA 0.542000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 7 12 0 0 1 0 0 SMC4 10051 broad.mit.edu 37 3 160148907 160148907 + Missense_Mutation SNP G G C TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr3:160148907G>C ENST00000357388.3 + 20 3479 c.3028G>C c.(3028-3030)Gat>Cat p.D1010H SMC4_ENST00000469762.1_Missense_Mutation_p.D985H|SMC4_ENST00000344722.5_Missense_Mutation_p.D1010H|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Intron|SMC4_ENST00000462787.1_Intron NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 1010 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) TCTTCAAAAAGATGCACTTAG 0.328000 36 33 0 0 1 0 0 ZACN 353174 broad.mit.edu 37 17 74076414 74076414 + Silent SNP C C T TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr17:74076414C>T ENST00000334586.5 + 5 536 c.453C>T c.(451-453)ctC>ctT p.L151L ZACN_ENST00000392503.2_Intron NM_180990.3 NP_851321.2 Q401N2 ZACN_HUMAN zinc activated ligand-gated ion channel 151 response to zinc ion integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity p.L150L(1) breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 11 ACCTGGCCCTCGCCACGGAGA 0.632000 12 68 0 0 1 0 0 EPN1 29924 broad.mit.edu 37 19 56206575 56206575 + Silent SNP C C T TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr19:56206575C>T ENST00000411543.2 + 11 2389 c.1842C>T c.(1840-1842)ctC>ctT p.L614L EPN1_ENST00000085079.7_Silent_p.L502L|EPN1_ENST00000270460.6_Silent_p.L528L NM_001130071.1 NP_001123543.1 Q9Y6I3 EPN1_HUMAN epsin 1 528 endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 17 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) CCGCGACGCTCACCCTGAACC 0.677000 9 21 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179454225 179454225 + Missense_Mutation SNP C C T TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr2:179454225C>T ENST00000589042.1 - 304 62451 c.62227G>A c.(62227-62229)Gtg>Atg p.V20743M TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V18175M|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V11803M|TTN_ENST00000460472.2_Missense_Mutation_p.V11678M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V11870M|TTN_ENST00000591111.1_Missense_Mutation_p.V19102M|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19102 Fibronectin type-III 50. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTGTTTGCACTCTGAACTCA 0.398000 28 14 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994573 140994573 + Missense_Mutation SNP T T G TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chrX:140994573T>G ENST00000285879.4 + 4 1669 c.1383T>G c.(1381-1383)agT>agG p.S461R MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 461 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TTTTCCAGAGTTCCCCTGAGA 0.483000 HNSCC(15;0.026) 13 118 0 0 1 0 0 CIT 11113 broad.mit.edu 37 12 120306960 120306960 + Missense_Mutation SNP G G C TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr12:120306960G>C ENST00000392521.2 - 3 197 c.142C>G c.(142-144)Cga>Gga p.R48G CIT_ENST00000261833.7_Missense_Mutation_p.R48G NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 48 intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) ATCCCTTCTCGGGAAAGAGGA 0.433000 10 124 0 0 1 0 0 C4B 721 broad.mit.edu 37 6 31996297 31996297 + Missense_Mutation SNP G G A TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr6:31996297G>A ENST00000435363.2 + 25 3302 c.3218G>A c.(3217-3219)gGc>gAc p.G1073D C4B_ENST00000425700.2_Missense_Mutation_p.G1073D NM_001002029.3 NP_001002029.3 P0C0L5 CO4B_HUMAN complement component 4B (Chido blood group) 1073 D -> G (in allotype C4B1 and allotype C4B3; dbSNP:rs2258218). complement activation, classical pathway|inflammatory response|innate immune response extracellular space endopeptidase inhibitor activity TTGTCACGGGGCAGCAGCACC 0.617000 3 16 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102446830 102446830 + Missense_Mutation SNP G G T TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr14:102446830G>T ENST00000360184.4 + 5 1068 c.904G>T c.(904-906)Gat>Tat p.D302Y NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 302 Stem (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 CCTGACTCTGGATATCTTGAA 0.443000 4 42 0.00909568 0.00959001 1 1 0 MUC5B 727897 broad.mit.edu 37 11 1271261 1271261 + Missense_Mutation SNP C C G TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr11:1271261C>G ENST00000447027.1 + 31 13218 c.13160C>G c.(13159-13161)tCc>tGc p.S4387C MUC5B_ENST00000529681.1_Missense_Mutation_p.S4384C Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4384 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ACCCCCTCCTCCACTCCGGGG 0.667000 37 71 0 0 1 0 0 ZBTB40 9923 broad.mit.edu 37 1 22828017 22828017 + Silent SNP A A G TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr1:22828017A>G ENST00000404138.1 + 5 1375 c.864A>G c.(862-864)ggA>ggG p.G288G ZBTB40_ENST00000375647.4_Silent_p.G288G|ZBTB40_ENST00000374651.4_Intron NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 288 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) GTGAAGGAGGACATTCAGCAT 0.438000 19 37 0 0 1 0 0 FBXO46 23403 broad.mit.edu 37 19 46216543 46216543 + Missense_Mutation SNP G G C TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr19:46216543G>C ENST00000317683.3 - 2 344 c.211C>G c.(211-213)Ccg>Gcg p.P71A NM_001080469.1 NP_001073938.1 Q6PJ61 FBX46_HUMAN F-box protein 46 71 protein binding breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1) 15 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201) GAGAGGAGCGGAGCCGGCTGG 0.642000 15 52 0 0 1 0 0 NOL8 55035 broad.mit.edu 37 9 95077919 95077919 + Missense_Mutation SNP C C T TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr9:95077919C>T ENST00000545558.1 - 7 1480 c.988G>A c.(988-990)Gaa>Aaa p.E330K NOL8_ENST00000442668.2_Missense_Mutation_p.E330K|NOL8_ENST00000542053.1_Missense_Mutation_p.E262K|NOL8_ENST00000535387.1_Missense_Mutation_p.E330K|NOL8_ENST00000358855.4_Missense_Mutation_p.E262K Q76FK4 NOL8_HUMAN nucleolar protein 8 330 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 16 GGATCACTTTCAGATTCATTT 0.353000 9 10 0 0 1 0 0 AXIN2 8313 broad.mit.edu 37 17 63532475 63532475 + Missense_Mutation SNP G G A TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr17:63532475G>A ENST00000307078.5 - 8 2417 c.2104C>T c.(2104-2106)Cgc>Tgc p.R702C AXIN2_ENST00000375702.5_Missense_Mutation_p.R637C NM_004655.3 NP_004646.3 Q9Y2T1 AXIN2_HUMAN axin 2 702 cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 34 GCTAGCCTGCGACAGGCCTCC 0.657000 Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome 4 14 0 0 1 0 0 PDZRN3 23024 broad.mit.edu 37 3 73432680 73432680 + Missense_Mutation SNP T T G TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr3:73432680T>G ENST00000263666.4 - 10 3151 c.3037A>C c.(3037-3039)Aag>Cag p.K1013Q PDZRN3_ENST00000462146.2_Missense_Mutation_p.K670Q|PDZRN3_ENST00000535920.1_Missense_Mutation_p.K735Q|PDZRN3_ENST00000479530.1_Missense_Mutation_p.K730Q|PDZRN3_ENST00000466780.1_Missense_Mutation_p.K670Q NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 1013 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) TTCATCTCCTTCCTGTCATCG 0.502000 4 110 0 0 1 0 0 SAMD4B 55095 broad.mit.edu 37 19 39868164 39868164 + Nonsense_Mutation SNP G G T TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr19:39868164G>T ENST00000314471.6 + 10 2179 c.1144G>T c.(1144-1146)Gag>Tag p.E382* SAMD4B_ENST00000596368.1_Intron|SAMD4B_ENST00000598913.1_Nonsense_Mutation_p.E382* NM_018028.2 NP_060498.2 Q5PRF9 SMAG2_HUMAN sterile alpha motif domain containing 4B 382 protein binding autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2) 15 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) CGCTCTGCAGGAGCTGCAGCA 0.607000 3 58 1 1 1 1 0 CUL9 23113 broad.mit.edu 37 6 43160845 43160845 + Missense_Mutation SNP G G A TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr6:43160845G>A ENST00000252050.4 + 9 2371 c.2287G>A c.(2287-2289)Gag>Aag p.E763K CUL9_ENST00000354495.3_Missense_Mutation_p.E653K|CUL9_ENST00000372647.2_Missense_Mutation_p.E763K NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 763 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 GACCAAGCACGAGTGGCGGCC 0.587000 5 204 0 0 1 0 0 MEF2A 4205 broad.mit.edu 37 15 100215643 100215643 + Missense_Mutation SNP G G C TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr15:100215643G>C ENST00000354410.5 + 7 1285 c.656G>C c.(655-657)gGa>gCa p.G219A MEF2A_ENST00000449277.2_Missense_Mutation_p.G149A|MEF2A_ENST00000338042.6_Missense_Mutation_p.G217A|MEF2A_ENST00000557942.1_Missense_Mutation_p.G217A|MEF2A_ENST00000557785.1_Missense_Mutation_p.G217A|MEF2A_ENST00000453228.2_Missense_Mutation_p.G217A|MEF2A_ENST00000558812.1_Missense_Mutation_p.G149A NM_005587.2 NP_005578.2 Q02078 MEF2A_HUMAN myocyte enhancer factor 2A 219 apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development nuclear chromatin|nucleoplasm activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding endometrium(2)|large_intestine(2)|lung(7)|ovary(1) 12 Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00085) GTGCCAAATGGAGCTGGAAGC 0.428000 21 36 0 0 1 0 0 LRIG3 121227 broad.mit.edu 37 12 59271368 59271368 + Missense_Mutation SNP C C G TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr12:59271368C>G ENST00000320743.3 - 15 2636 c.2350G>C c.(2350-2352)Gtg>Ctg p.V784L LRIG3_ENST00000379141.4_Missense_Mutation_p.V724L NM_153377.4 NP_700356.2 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like domains 3 784 integral to membrane LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) GTGGGGATCACACTGAGGCGC 0.532000 T ROS1 NSCLC 3 50 0 0 1 0 0 OR2AG1 144125 broad.mit.edu 37 11 6807092 6807092 + Missense_Mutation SNP C C G TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr11:6807092C>G ENST00000307401.4 + 1 845 c.824C>G c.(823-825)tCt>tGt p.S275C NM_001004489.2 NP_001004489.1 Q9H205 O2AG1_HUMAN olfactory receptor, family 2, subfamily AG, member 1 275 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) AACATCATCTCTGTTTTCTAC 0.498000 20 31 0 0 1 0 0 KBTBD7 84078 broad.mit.edu 37 13 41768138 41768138 + Missense_Mutation SNP G G C TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr13:41768138G>C ENST00000379483.3 - 1 564 c.256C>G c.(256-258)Cgc>Ggc p.R86G NM_032138.4 NP_115514.2 Q8WVZ9 KBTB7_HUMAN kelch repeat and BTB (POZ) domain containing 7 86 BTB. protein binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669) AGCACGTTGCGATTGCAGGAA 0.612000 25 12 0 0 1 0 0 AMPD1 270 broad.mit.edu 37 1 115226976 115226976 + Missense_Mutation SNP C C T TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr1:115226976C>T ENST00000369538.3 - 4 525 c.478G>A c.(478-480)Gaa>Aaa p.E160K AMPD1_ENST00000353928.6_Missense_Mutation_p.E131K|AMPD1_ENST00000520113.2_Missense_Mutation_p.E164K NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 131 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) TCAAAATCTTCAACTGTAACC 0.418000 12 17 0 0 1 0 0 KIAA0753 9851 broad.mit.edu 37 17 6493171 6493171 + Missense_Mutation SNP C C T rs61735434 TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr17:6493171C>T ENST00000361413.3 - 18 3072 c.2714G>A c.(2713-2715)cGt>cAt p.R905H KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000589033.1_Missense_Mutation_p.R361H|KIAA0753_ENST00000542606.1_Missense_Mutation_p.R606H|KIAA0753_ENST00000572370.1_Missense_Mutation_p.R606H NM_014804.2 NP_055619.2 Q2KHM9 K0753_HUMAN KIAA0753 905 centrosome endometrium(4)|large_intestine(11)|lung(5)|prostate(4) 24 COAD - Colon adenocarcinoma(228;0.157) CTGCTCAAAACGACTACAGTA 0.507000 10 38 0 0 1 0 0 KIAA1143 57456 broad.mit.edu 37 3 44803049 44803049 + Missense_Mutation SNP C C A TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr3:44803049C>A ENST00000296121.4 - 1 105 c.46G>T c.(46-48)Gcg>Tcg p.A16S NM_020696.3 NP_065747.1 Q96AT1 K1143_HUMAN KIAA1143 16 NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582) GCCAGAAACGCCGGCTCGGCT 0.602000 4 31 0.150653 0.155462 1 1 0 OR8B2 26595 broad.mit.edu 37 11 124252925 124252925 + Silent SNP G G C TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr11:124252925G>C ENST00000375013.2 - 1 333 c.315C>G c.(313-315)ctC>ctG p.L105L NM_001005468.1 NP_001005468.1 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, member 2 105 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1) 23 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) TGACGAAAAAGAGAAAGAAAA 0.393000 11 42 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3788653 3788653 + Missense_Mutation SNP A A C TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr16:3788653A>C ENST00000262367.5 - 26 5110 c.4301T>G c.(4300-4302)cTg>cGg p.L1434R CREBBP_ENST00000382070.3_Missense_Mutation_p.L1396R NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1434 Cys/His-rich. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding p.L1434P(1) NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) AATACTATCCAGATAAGAAAT 0.433000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 5 12 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228560599 228560599 + Missense_Mutation SNP G G T TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr1:228560599G>T ENST00000570156.2 + 105 25065 c.24991G>T c.(24991-24993)Gtg>Ttg p.V8331L OBSCN_ENST00000422127.1_Missense_Mutation_p.V7374L|OBSCN_ENST00000366707.4_Missense_Mutation_p.V5008L NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 7374 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GTCAGAGGATGTGGACGCGCT 0.687000 5 9 1.23904e-05 1.36576e-05 1 1 0 TRA2B 6434 broad.mit.edu 37 3 185636210 185636210 + Missense_Mutation SNP G G C TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr3:185636210G>C ENST00000453386.2 - 8 1074 c.799C>G c.(799-801)Cct>Gct p.P267A TRA2B_ENST00000382191.4_Missense_Mutation_p.P167A NM_004593.2 NP_004584.1 P62995 TRA2B_HUMAN transformer 2 beta homolog (Drosophila) 267 Arg/Ser-rich (RS2 domain). nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|protein binding|RNA binding breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1) 18 CTATAGTAAGGAGAAGGTGAC 0.348000 17 45 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102446829 102446829 + Silent SNP G G T TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr14:102446829G>T ENST00000360184.4 + 5 1067 c.903G>T c.(901-903)ctG>ctT p.L301L NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 301 Stem (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 TCCTGACTCTGGATATCTTGA 0.448000 4 44 0.00909568 0.00959001 1 1 0 TRA2B 6434 broad.mit.edu 37 3 185636168 185636168 + Missense_Mutation SNP G G C TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr3:185636168G>C ENST00000453386.2 - 8 1116 c.841C>G c.(841-843)Cga>Gga p.R281G TRA2B_ENST00000382191.4_Missense_Mutation_p.R181G NM_004593.2 NP_004584.1 P62995 TRA2B_HUMAN transformer 2 beta homolog (Drosophila) 281 Arg/Ser-rich (RS2 domain). nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|protein binding|RNA binding breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1) 18 GAGTATGATCGAGATCTGGAA 0.368000 19 49 0 0 1 0 0 TMEM168 64418 broad.mit.edu 37 7 112423860 112423860 + Missense_Mutation SNP C C G TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr7:112423860C>G ENST00000312814.6 - 2 1581 c.1021G>C c.(1021-1023)Gat>Cat p.D341H TMEM168_ENST00000454074.1_Missense_Mutation_p.D341H NM_022484.4 NP_071929.3 Q9H0V1 TM168_HUMAN transmembrane protein 168 integral to membrane|transport vesicle breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1) 32 ATGATTCTATCAAGGCTATTG 0.368000 44 69 0 0 1 0 0 DDX19B 11269 broad.mit.edu 37 16 70359561 70359561 + Missense_Mutation SNP A A C TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr16:70359561A>C ENST00000288071.6 + 7 822 c.577A>C c.(577-579)Aag>Cag p.K193Q DDX19B_ENST00000355992.3_Missense_Mutation_p.K162Q|DDX19B_ENST00000393657.2_Missense_Mutation_p.K84Q|RP11-529K1.3_ENST00000567706.1_Missense_Mutation_p.K193Q|DDX19B_ENST00000451014.3_Missense_Mutation_p.K167Q|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000568625.1_Missense_Mutation_p.K84Q|DDX19B_ENST00000563392.1_Missense_Mutation_p.K84Q|DDX19B_ENST00000563206.1_Missense_Mutation_p.K198Q NM_007242.5 NP_009173.1 Q9UMR2 DD19B_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B 193 Helicase ATP-binding. mRNA export from nucleus|protein transport|transmembrane transport cytoplasm|nuclear membrane|nuclear pore ATP binding|ATP-dependent helicase activity|protein binding|RNA binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1) 9 Ovarian(137;0.0694) CCCTGAACTGAAGCTAGCTTA 0.388000 8 155 0 0 1 0 0 MARK2 2011 broad.mit.edu 37 11 63672422 63672422 + Missense_Mutation SNP G G A TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr11:63672422G>A ENST00000402010.2 + 16 2420 c.1841G>A c.(1840-1842)gGt>gAt p.G614D MARK2_ENST00000508192.1_Missense_Mutation_p.G559D|MARK2_ENST00000509502.2_Missense_Mutation_p.G580D|MARK2_ENST00000502399.3_Missense_Mutation_p.G613D|MARK2_ENST00000413835.2_Missense_Mutation_p.G560D|MARK2_ENST00000377810.3_Missense_Mutation_p.G526D|MARK2_ENST00000350490.7_Missense_Mutation_p.G559D|MARK2_ENST00000408948.3_Missense_Mutation_p.G526D|MARK2_ENST00000377809.4_Missense_Mutation_p.G614D|MARK2_ENST00000425897.2_Missense_Mutation_p.G534D|MARK2_ENST00000513765.2_Missense_Mutation_p.G581D|MARK2_ENST00000315032.8_Missense_Mutation_p.G614D|MARK2_ENST00000361128.5_Missense_Mutation_p.G560D NM_001039469.2 NP_001034558.2 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 614 cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 TTGCCCTACGGTGTGACCCCA 0.637000 4 84 0 0 1 0 0 SEPT7 989 broad.mit.edu 37 7 35930362 35930362 + Silent SNP T T C TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr7:35930362T>C ENST00000494488.2 + 10 915 c.915T>C c.(913-915)taT>taC p.Y305Y SEPT7_ENST00000399035.3_Silent_p.Y318Y|SEPT7_ENST00000432293.2_Intron|SEPT7_ENST00000350320.6_Silent_p.Y318Y|SEPT7_ENST00000399034.2_Silent_p.Y320Y|SEPT7_ENST00000435235.1_Silent_p.Y266Y Q16181 SEPT7_HUMAN septin 7 319 cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber GTP binding|protein binding|structural molecule activity p.Y320Y(3) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1) 14 CTGTGACTTATAATGGAGTTG 0.323000 4 14 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179466775 179466775 + Missense_Mutation SNP G G T TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr2:179466775G>T ENST00000589042.1 - 284 55447 c.55223C>A c.(55222-55224)cCa>cAa p.P18408Q TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P15840Q|TTN_ENST00000359218.5_Missense_Mutation_p.P9468Q|TTN_ENST00000460472.2_Missense_Mutation_p.P9343Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P9535Q|TTN_ENST00000591111.1_Missense_Mutation_p.P16767Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16767 Fibronectin type-III 33. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGATGATTTTGGTGTTGGGCG 0.413000 9 69 0.000274275 0.000298929 1 1 0 NUP205 23165 broad.mit.edu 37 7 135276234 135276234 + Missense_Mutation SNP C C G TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr7:135276234C>G ENST00000285968.6 + 11 1536 c.1510C>G c.(1510-1512)Ctg>Gtg p.L504V NUP205_ENST00000440390.2_Intron NM_015135.2 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 504 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 AATGGGTGACCTGTTGCCTCC 0.403000 16 33 0 0 1 0 0 DENND4B 9909 broad.mit.edu 37 1 153907309 153907309 + Silent SNP C C T TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr1:153907309C>T ENST00000361217.4 - 18 3118 c.2700G>A c.(2698-2700)caG>caA p.Q900Q NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 900 Gln-rich. p.Q788Q(1)|p.Q900Q(1) NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) gctgctgttgctgctgctgct 0.642000 4 60 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179422059 179422059 + Silent SNP G G A TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr2:179422059G>A ENST00000589042.1 - 329 88154 c.87930C>T c.(87928-87930)ttC>ttT p.F29310F TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.F26742F|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.F20370F|TTN_ENST00000460472.2_Silent_p.F20245F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.F20437F|TTN_ENST00000591111.1_Silent_p.F27669F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 27669 Ig-like 134. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CATACACCCTGAATTCATAAA 0.418000 16 73 0 0 1 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33944984 33944984 + Nonsense_Mutation SNP C C G TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr1:33944984C>G ENST00000361328.3 + 2 248 c.95C>G c.(94-96)tCa>tGa p.S32* ZSCAN20_ENST00000373413.2_Nonsense_Mutation_p.S32*|ZSCAN20_ENST00000480917.1_3'UTR NM_145238.3 NP_660281 P17040 ZSC20_HUMAN zinc finger and SCAN domain containing 20 32 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) TCTTGGGGATCAGAATCCAAA 0.567000 12 35 0 0 1 0 0 STEAP1 26872 broad.mit.edu 37 7 89793976 89793976 + Missense_Mutation SNP G G C TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr7:89793976G>C ENST00000297205.2 + 5 1148 c.948G>C c.(946-948)aaG>aaC p.K316N STEAP2-AS1_ENST00000478318.2_RNA NM_012449.2 NP_036581.1 Q9UHE8 STEA1_HUMAN six transmembrane epithelial antigen of the prostate 1 316 electron transport chain|ion transport|iron ion homeostasis cell-cell junction|endosome membrane|integral to plasma membrane channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 14 all_hematologic(106;0.112) TGAGGAAGAAGATACTGAAGA 0.353000 5 53 0 0 1 0 0 AHRR 57491 broad.mit.edu 37 5 434243 434243 + Missense_Mutation SNP G G A TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr5:434243G>A ENST00000316418.5 + 12 1498 c.1454G>A c.(1453-1455)cGg>cAg p.R485Q AHRR_ENST00000505113.1_Missense_Mutation_p.R467Q|AHRR_ENST00000506456.1_Missense_Mutation_p.R323Q|AHRR_ENST00000512529.1_Missense_Mutation_p.R313Q NM_020731.4 NP_065782.2 A9YTQ3 AHRR_HUMAN aryl-hydrocarbon receptor repressor 467 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1) 20 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) TACTCCAGCCGGACCAGCAGA 0.687000 3 44 0 0 1 0 0 NCOA2 10499 broad.mit.edu 37 8 71068906 71068906 + Missense_Mutation SNP G G A TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr8:71068906G>A ENST00000452400.2 - 11 1875 c.1694C>T c.(1693-1695)tCc>tTc p.S565F NCOA2_ENST00000524223.1_Intron NM_006540.2 NP_006531.1 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 565 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) ATTAACTGGGGAGTTTTGCAA 0.507000 T """RUNXBP2, HEY1""" """AML, Chondrosarcoma""" 6 81 0 0 1 0 0 S100PBP 64766 broad.mit.edu 37 1 33291869 33291869 + Missense_Mutation SNP G G C TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr1:33291869G>C ENST00000373475.5 + 3 423 c.169G>C c.(169-171)Gag>Cag p.E57Q S100PBP_ENST00000398243.3_Missense_Mutation_p.E57Q|S100PBP_ENST00000373476.1_Missense_Mutation_p.E57Q|S100PBP_ENST00000356689.3_3'UTR NM_022753.3 NP_073590.2 Q96BU1 S1PBP_HUMAN S100P binding protein 57 nucleus calcium-dependent protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) CACAGAGGAAGAGATTGATGC 0.453000 11 67 0 0 1 0 0 VAMP8 8673 broad.mit.edu 37 2 85808784 85808784 + Missense_Mutation SNP T T C TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr2:85808784T>C ENST00000263864.5 + 3 404 c.248T>C c.(247-249)aTt>aCt p.I83T VAMP8_ENST00000432071.1_Missense_Mutation_p.I57T|VAMP8_ENST00000409760.1_3'UTR NM_003761.4 NP_003752.2 Q9BV40 VAMP8_HUMAN vesicle-associated membrane protein 8 83 post-Golgi vesicle-mediated transport early endosome|integral to membrane|membrane fraction|plasma membrane|secretory granule membrane breast(1)|endometrium(2)|large_intestine(1)|stomach(2) 6 ATCTGCGTGATTGTTTTTATC 0.478000 113 156 0 0 1 0 0 EXOC6 54536 broad.mit.edu 37 10 94688173 94688173 + Silent SNP G G A TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr10:94688173G>A ENST00000371552.4 + 9 980 c.951G>A c.(949-951)tcG>tcA p.S317S EXOC6_ENST00000443748.2_Silent_p.S299S|EXOC6_ENST00000371547.4_Silent_p.S338S|EXOC6_ENST00000260762.6_Silent_p.S322S NM_001013848.2 NP_001013870.1 Q8TAG9 EXOC6_HUMAN exocyst complex component 6 322 protein transport|vesicle docking involved in exocytosis exocyst p.S322S(1)|p.S317S(1) cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 26 Colorectal(252;0.123) AACCCCAGTCGAATATGGTAA 0.338000 11 33 0 0 1 0 0 FBLIM1 54751 broad.mit.edu 37 1 16095061 16095061 + Silent SNP C C G TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr1:16095061C>G ENST00000375766.3 + 5 1117 c.477C>G c.(475-477)ctC>ctG p.L159L FBLIM1_ENST00000441801.2_Silent_p.L159L|FBLIM1_ENST00000400773.1_Intron|FBLIM1_ENST00000332305.5_Intron|FBLIM1_ENST00000375771.1_Silent_p.L159L NM_017556.2 NP_060026.2 Q8WUP2 FBLI1_HUMAN filamin binding LIM protein 1 159 Pro-rich. cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle zinc ion binding large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 16 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138) CCGGTCCCCTCAGGCCCATGG 0.647000 3 25 0 0 1 0 0 SF3B1 23451 broad.mit.edu 37 2 198265452 198265452 + Missense_Mutation SNP T T C TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr2:198265452T>C ENST00000335508.6 - 18 2796 c.2705A>G c.(2704-2706)gAa>gGa p.E902G NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) TGTAGTCTGTTCTTGGAAAGC 0.318000 Mis myelodysplastic syndrome 20 16 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88963952 88963952 + Silent SNP T T C TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr7:88963952T>C ENST00000333190.4 + 4 2265 c.1656T>C c.(1654-1656)taT>taC p.Y552Y NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 552 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) AGAGGAAATATAATTTGGACT 0.343000 HNSCC(36;0.09) 3 53 0 0 1 0 0 HIST2H2BE 8349 broad.mit.edu 37 1 149858166 149858166 + Missense_Mutation SNP G G C TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr1:149858166G>C ENST00000369155.2 - 1 66 c.25C>G c.(25-27)Ccg>Gcg p.P9A NM_003528.2 NP_003519.1 Q16778 H2B2E_HUMAN histone cluster 2, H2be 9 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 14 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) TTAGGGGCCGGAGCGGATTTT 0.517000 170 42 0 0 1 0 0 CCDC88C 440193 broad.mit.edu 37 14 91770134 91770134 + Silent SNP C C T TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr14:91770134C>T ENST00000389857.6 - 20 3632 c.3546G>A c.(3544-3546)tcG>tcA p.S1182S NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 1182 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) CGTACTCGGCCGATTGCCGCT 0.637000 5 22 0 0 1 0 0 CRISPLD1 83690 broad.mit.edu 37 8 75926239 75926239 + Missense_Mutation SNP T T A TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr8:75926239T>A ENST00000262207.4 + 5 996 c.528T>A c.(526-528)agT>agA p.S176R CRISPLD1_ENST00000523524.1_5'UTR|CRISPLD1_ENST00000517786.1_Intron NM_031461.5 NP_113649.1 Q9H336 CRLD1_HUMAN cysteine-rich secretory protein LCCL domain containing 1 176 extracellular region biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(64;0.0799) Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161) GGGCAACTAGTAACAGAATCG 0.408000 17 52 0 0 1 0 0 IGHG1 3500 broad.mit.edu 37 14 106209357 106209357 + RNA SNP T T A TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr14:106209357T>A ENST00000390548.2 - 0 51 CCCCCAGAGGTGCTCTTGGAG 0.672000 8 18 0 0 1 0 0 ZNF609 23060 broad.mit.edu 37 15 64970407 64970407 + Silent SNP C C T TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr15:64970407C>T ENST00000326648.3 + 5 3623 c.3495C>T c.(3493-3495)cgC>cgT p.R1165R NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 1165 nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 AGCGGGACCGCAAATTGAAGG 0.532000 7 27 0 0 1 0 0 LRRC34 151827 broad.mit.edu 37 3 169514140 169514140 + Missense_Mutation SNP T T G TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr3:169514140T>G ENST00000522526.2 - 8 1267 c.830A>C c.(829-831)gAt>gCt p.D277A LRRC34_ENST00000316515.7_Missense_Mutation_p.D264A|LRRC34_ENST00000522830.1_Missense_Mutation_p.D248A|LRRC34_ENST00000524327.1_5'UTR|LRRC34_ENST00000446859.1_Missense_Mutation_p.D309A Q8IZ02 LRC34_HUMAN leucine rich repeat containing 34 264 breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2) 10 all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) CACCATTCCATCATGAGTTAT 0.323000 29 37 0 0 1 0 0 HK2 3099 broad.mit.edu 37 2 75115175 75115175 + Nonsense_Mutation SNP C C T TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr2:75115175C>T ENST00000290573.2 + 16 2965 c.2365C>T c.(2365-2367)Cag>Tag p.Q789* HK2_ENST00000409174.1_Nonsense_Mutation_p.Q761* NM_000189.4 NP_000180.2 P52789 HXK2_HUMAN hexokinase 2 789 Catalytic. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 43 GTTCTTGTCTCAGATTGAGAG 0.502000 16 71 0 0 1 0 0 MYF6 4618 broad.mit.edu 37 12 81101624 81101624 + Silent SNP C C A TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr12:81101624C>A ENST00000228641.3 + 1 348 c.126C>A c.(124-126)tcC>tcA p.S42S NM_002469.2 NP_002460.1 P23409 MYF6_HUMAN myogenic factor 6 (herculin) 42 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1) 26 GTACCTTGTCCCCCTGCCAGG 0.602000 21 32 3.62473e-10 4.08836e-10 1 1 0 CDK12 51755 broad.mit.edu 37 17 37627275 37627275 + Missense_Mutation SNP C C T TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr17:37627275C>T ENST00000447079.4 + 2 1223 c.1190C>T c.(1189-1191)gCt>gTt p.A397V CDK12_ENST00000430627.2_Missense_Mutation_p.A397V NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 397 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 AGTCTGGGAGCTGAACTCAGT 0.448000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 4 43 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71508833 71508833 + Missense_Mutation SNP A A G TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr4:71508833A>G ENST00000396073.3 + 9 1971 c.1690A>G c.(1690-1692)Aga>Gga p.R564G ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 564 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) TCCTGCTGGAAGAAATACTTG 0.438000 4 205 0 0 1 0 0 DNM1 1759 broad.mit.edu 37 9 130988406 130988406 + Missense_Mutation SNP T T C TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr9:130988406T>C ENST00000393594.3 + 10 1343 c.1289T>C c.(1288-1290)aTg>aCg p.M430T DNM1_ENST00000341179.7_Intron|DNM1_ENST00000372923.3_Intron|DNM1_ENST00000475805.1_Missense_Mutation_p.M430T|DNM1_ENST00000486160.1_Missense_Mutation_p.M430T Q05193 DYN1_HUMAN dynamin 1 430 receptor-mediated endocytosis microtubule GTP binding|GTPase activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2) 32 TGTGTGGATATGGTAGTCAGT 0.572000 10 25 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152282139 152282139 + Silent SNP C C A TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr1:152282139C>A ENST00000368799.1 - 3 5258 c.5223G>T c.(5221-5223)ggG>ggT p.G1741G FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1741 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCTGATGGGGCCCAGCCTGTC 0.587000 Ichthyosis 8 461 3.09899e-07 3.45519e-07 1 1 0 GZMK 3003 broad.mit.edu 37 5 54326341 54326341 + Nonsense_Mutation SNP G G T TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr5:54326341G>T ENST00000231009.2 + 3 362 c.292G>T c.(292-294)Gag>Tag p.E98* CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000609792.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA NM_002104.2 NP_002095.1 P49863 GRAK_HUMAN granzyme K (granzyme 3; tryptase II) 98 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4) 15 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) ACAAACACTGGAGATCAAAAA 0.393000 121 54 1.81606e-51 2.12238e-51 1 1 0 NACA 4666 broad.mit.edu 37 12 57114946 57114946 + Missense_Mutation SNP A A G TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr12:57114946A>G ENST00000454682.1 - 3 649 c.368T>C c.(367-369)aTa>aCa p.I123T NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.I123T|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 55 NAC-A/B. interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 AGTTGGAGCTATCATGGGAGA 0.557000 T BCL6 NHL 3 17 0 0 1 0 0 PTMA 5757 broad.mit.edu 37 2 232577170 232577171 + Frame_Shift_Ins INS - - AT TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr2:232577170_232577171insAT ENST00000409115.3 + 4 427_428 c.229_230insAT c.(229-231)gatfs p.D77fs PTMA_ENST00000466801.1_3'UTR|PTMA_ENST00000409321.1_Frame_Shift_Ins_p.D98fs|PTMA_ENST00000410064.1_Frame_Shift_Ins_p.D103fs|PTMA_ENST00000341369.7_Frame_Shift_Ins_p.D78fs|PTMA_ENST00000409683.1_Frame_Shift_Ins_p.D74fs NM_002823.4 NP_002814.3 P06454 PTMA_HUMAN prothymosin, alpha 78 Asp/Glu-rich (acidic). transcription, DNA-dependent nucleus lung(3)|ovary(1)|prostate(1)|skin(1) 6 Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142) Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139) AGAGGATGGAGATGAAGATGAG 0.545 16 22 --- --- --- --- MLXIPL 51085 broad.mit.edu 37 7 73012016 73012016 + Frame_Shift_Del DEL C C - TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr7:73012016delC ENST00000313375.3 - 9 1146 c.1099delG c.(1099-1101)gacfs p.D367fs MLXIPL_ENST00000434326.1_Frame_Shift_Del_p.D274fs|MLXIPL_ENST00000414749.2_Frame_Shift_Del_p.D367fs|MLXIPL_ENST00000429400.2_Frame_Shift_Del_p.D367fs|MLXIPL_ENST00000395189.1_Frame_Shift_Del_p.D274fs|MLXIPL_ENST00000354613.1_Frame_Shift_Del_p.D367fs NM_032951.2|NM_032953.2 NP_116569.1|NP_116571.1 Q9NP71 WBS14_HUMAN MLX interacting protein-like 367 anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Lung NSC(55;0.0659)|all_lung(88;0.152) GCGCTGGAGTCCAAGGGGCCA 0.652 10 17 --- --- --- --- GTF2I 2969 broad.mit.edu 37 7 74149837 74149840 + Frame_Shift_Del DEL AAGA AAGA - TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr7:74149837_74149840delAAGA ENST00000324896.4 + 17 1787_1790 c.1398_1401delAAGA c.(1396-1401)ttaagafs p.LR466fs GTF2I_ENST00000346152.4_Frame_Shift_Del_p.LR445fs|GTF2I_ENST00000416070.1_Frame_Shift_Del_p.LR425fs|GTF2I_ENST00000353920.4_Frame_Shift_Del_p.LR446fs NM_032999.2 NP_127492.1 P78347 GTF2I_HUMAN general transcription factor IIi 466 negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 TCACTAAATTAAGAAAGATGGTGG 0.275 2 4 --- --- --- --- ZFAT 57623 broad.mit.edu 37 8 135596075 135596077 + Splice_Site DEL CAT CAT - TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr8:135596075_135596077delCAT ENST00000520727.1 - 11 3148_3150 c.2849_2851delATG c.(2848-2853)gatggg>ggg p.D950del ZFAT_ENST00000523399.1_Splice_Site_p.D900del|ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000377838.3_Splice_Site_p.D962del|ZFAT_ENST00000520356.1_Splice_Site_p.D950del|ZFAT_ENST00000429442.2_Splice_Site_p.D950del|ZFAT_ENST00000520214.1_Splice_Site_p.D950del NM_001029939.3 NP_001025110.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 962 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) ATTTACTCACCATCTGCAGTGTG 0.443 8 14 --- --- --- --- METTL21B 25895 broad.mit.edu 37 12 58168420 58168420 + Frame_Shift_Del DEL G G - TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr12:58168420delG ENST00000333012.5 + 3 345 c.298delG c.(298-300)ggtfs p.G100fs METTL21B_ENST00000548256.1_Frame_Shift_Del_p.G58fs|METTL21B_ENST00000552307.1_3'UTR|METTL21B_ENST00000300209.8_Intron|RP11-571M6.15_ENST00000471530.1_Intron|RP11-571M6.15_ENST00000553083.1_Intron|METTL21B_ENST00000551420.1_Intron NM_206914.1 NP_996797.1 Q96AZ1 MT21B_HUMAN methyltransferase like 21B 0 integral to membrane|intracellular methyltransferase activity endometrium(1)|lung(1) 2 aggagcttatggtctagtgag 0.448 2 4 --- --- --- --- SUPT20H 55578 broad.mit.edu 37 13 37598509 37598512 + Frame_Shift_Del DEL TTGA TTGA - TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr13:37598509_37598512delTTGA ENST00000360252.4 - 18 1647_1650 c.1400_1403delTCAA c.(1399-1404)atcaaafs p.IK467fs SUPT20H_ENST00000475892.1_Frame_Shift_Del_p.IK466fs|SUPT20H_ENST00000464744.1_Frame_Shift_Del_p.IK467fs|SUPT20H_ENST00000542180.1_Frame_Shift_Del_p.IK430fs|SUPT20H_ENST00000350612.6_Frame_Shift_Del_p.IK466fs|SUPT20H_ENST00000356185.3_Frame_Shift_Del_p.IK467fs NM_001278481.1|NM_001278482.1|NM_017569.3 NP_001265410.1|NP_001265411.1|NP_060039.1 suppressor of Ty 20 homolog (S. cerevisiae) TGAGGGAAGTTTGATTGGTGGGGG 0.348 19 25 --- --- --- --- MYH1 4619 broad.mit.edu 37 17 10399677 10399677 + Frame_Shift_Del DEL T T - TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr17:10399677delT ENST00000226207.5 - 34 4940 c.4846delA c.(4846-4848)attfs p.I1616fs CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1616 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TTGAGCCTAATGGCATCATTC 0.478 7 126 --- --- --- --- EFCAB5 374786 broad.mit.edu 37 17 28417687 28417688 + Frame_Shift_Del DEL TC TC - TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr17:28417687_28417688delTC ENST00000394835.3 + 20 4124_4125 c.3932_3933delTC c.(3931-3933)atcfs p.I1311fs EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Frame_Shift_Del_p.I1187fs|RP11-1148O4.2_ENST00000582938.1_RNA NM_198529.3 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 1311 calcium ion binding breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 AAAAAATATATCTTAGGTATCG 0.356 19 48 --- --- --- --- CEP76 79959 broad.mit.edu 37 18 12699828 12699829 + Splice_Site INS - - T TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr18:12699828_12699829insT ENST00000262127.2 - 3 520_521 c.e3+1 CEP76_ENST00000423709.2_Splice_Site|PSMG2_ENST00000585331.2_Intron|CEP76_ENST00000586887.1_Splice_Site NM_024899.2 NP_079175.2 Q8TAP6 CEP76_HUMAN centrosomal protein 76kDa G2/M transition of mitotic cell cycle|regulation of centriole replication centriole|cytosol protein binding p.T99fs*90(1) endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 AATATACATACTTTTTTTTAAT 0.317 2 4 --- --- --- --- CTD-2245F17.3 0 broad.mit.edu 37 19 53703995 53703996 + RNA DEL TT TT - rs113703393 TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1027053d-438e-4f01-9655-b6e2e8376e66 a60524a1-b806-4678-ad16-69f1629ed79f g.chr19:53703995_53703996delTT ENST00000597550.1 + 0 232 TGTTTCCCCCtttttttttttt 0.475 3 5 --- --- --- ---