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 ACSL5 51703 broad.mit.edu 37 10 114181382 114181382 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr10:114181382C>T ENST00000393081.1 + 15 1653 c.1346C>T c.(1345-1347)aCa>aTa p.T449I ACSL5_ENST00000433418.1_Missense_Mutation_p.T449I|ACSL5_ENST00000354273.4_Missense_Mutation_p.T449I|ACSL5_ENST00000354655.4_Missense_Mutation_p.T449I|ACSL5_ENST00000369410.3_Missense_Mutation_p.T231I|ACSL5_ENST00000356116.1_Missense_Mutation_p.T505I NM_203380.1 NP_976314.1 Q9ULC5 ACSL5_HUMAN acyl-CoA synthetase long-chain family member 5 449 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) ACAGAATGCACAGGTGGCTGT 0.473000 6 32 0 0 1 0 0 NDUFA9 4704 broad.mit.edu 37 12 4796181 4796181 + Silent SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr12:4796181C>G ENST00000266544.5 + 11 1061 c.1041C>G c.(1039-1041)ctC>ctG p.L347L NDUFA9_ENST00000540688.1_Silent_p.L106L|RP11-234B24.6_ENST00000544741.2_Intron NM_005002.4 NP_004993.1 Q16795 NDUA9_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa 347 mitochondrial electron transport, NADH to ubiquinone|sodium ion transport mitochondrial matrix|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity|protein binding NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 NADH(DB00157) CACTGGAACTCAAGGCCATTG 0.512000 31 28 0 0 1 0 0 VPS33A 65082 broad.mit.edu 37 12 122745927 122745927 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr12:122745927C>T ENST00000267199.4 - 4 476 c.364G>A c.(364-366)Gaa>Aaa p.E122K VPS33A_ENST00000542310.1_5'UTR|RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.E122K|VPS33A_ENST00000451053.2_Missense_Mutation_p.E122K NM_022916.4 NP_075067.2 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33 homolog A (S. cerevisiae) 122 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding p.E122K(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 28 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) AACCGCTGTTCGCACAACAGG 0.468000 37 50 0 0 1 0 0 POLN 353497 broad.mit.edu 37 4 2181106 2181106 + Missense_Mutation SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr4:2181106C>G ENST00000511885.2 - 8 1461 c.1108G>C c.(1108-1110)Gaa>Caa p.E370Q POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Missense_Mutation_p.E370Q Q7Z5Q5 DPOLN_HUMAN polymerase (DNA directed) nu 370 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(23;0.0955) CAGTATTTTTCTACTAAATCT 0.343000 DNA polymerases (catalytic subunits) 20 56 0 0 1 0 0 RNF34 80196 broad.mit.edu 37 12 121855573 121855573 + Silent SNP G G T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr12:121855573G>T ENST00000361234.5 + 3 664 c.492G>T c.(490-492)ctG>ctT p.L164L RNF34_ENST00000392465.3_Silent_p.L165L|RNF34_ENST00000555076.1_Intron|RNF34_ENST00000392464.2_Silent_p.L164L NM_025126.3 NP_079402.2 Q969K3 RNF34_HUMAN ring finger protein 34, E3 ubiquitin protein ligase 164 apoptosis endomembrane system|membrane|nuclear speck ligase activity|zinc ion binding breast(1)|large_intestine(1) 2 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233) CAAGCAGTCTGAATTCTTCAA 0.438000 96 105 5.48297e-45 6.31372e-45 1 1 0 KLHL2 11275 broad.mit.edu 37 4 166235285 166235285 + Missense_Mutation SNP G G T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr4:166235285G>T ENST00000226725.6 + 13 1835 c.1576G>T c.(1576-1578)Gtt>Ttt p.V526F KLHL2_ENST00000506761.1_Missense_Mutation_p.V360F|KLHL2_ENST00000421009.2_Missense_Mutation_p.V429F|KLHL2_ENST00000538127.1_Missense_Mutation_p.V438F|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000514860.1_Missense_Mutation_p.V530F NM_007246.3 NP_009177.3 O95198 KLHL2_HUMAN kelch-like family member 2 526 intracellular protein transport actin cytoskeleton|cytoplasm actin binding|transporter activity endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1) 14 all_hematologic(180;0.221) GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927) ATGGAGACAGGTTGCAGATAT 0.358000 52 70 1.07234e-20 1.21841e-20 1 1 0 GPR116 221395 broad.mit.edu 37 6 46851928 46851928 + Missense_Mutation SNP G G C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr6:46851928G>C ENST00000283296.7 - 5 697 c.409C>G c.(409-411)Ctc>Gtc p.L137V GPR116_ENST00000265417.7_Missense_Mutation_p.L137V|GPR116_ENST00000362015.4_Missense_Mutation_p.L137V|GPR116_ENST00000456426.2_Missense_Mutation_p.L137V NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 137 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) TGACAAATGAGATTGTGAAGA 0.502000 5 86 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 120998535 120998535 + Missense_Mutation SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr11:120998535C>G ENST00000392793.1 + 9 2120 c.1849C>G c.(1849-1851)Ctg>Gtg p.L617V TECTA_ENST00000264037.2_Missense_Mutation_p.L617V O75443 TECTA_HUMAN tectorin alpha 617 TIL 1. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) ATGCTCCGACCTGACGGCCTC 0.652000 5 91 0 0 1 0 0 KCNU1 157855 broad.mit.edu 37 8 36776389 36776389 + Missense_Mutation SNP G G T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr8:36776389G>T ENST00000399881.3 + 23 2607 c.2570G>T c.(2569-2571)cGa>cTa p.R857L NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 857 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) TCAAACTGCCGAAAAGTCCCT 0.358000 28 8 4.22769e-11 4.51835e-11 1 1 0 KCNH6 81033 broad.mit.edu 37 17 61621021 61621021 + Splice_Site SNP G G C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr17:61621021G>C ENST00000583023.1 + 10 2244 c.2233G>C c.(2233-2235)Ggg>Cgg p.G745R KCNH6_ENST00000314672.5_Splice_Site_p.D745H|KCNH6_ENST00000581784.1_Splice_Site_p.D692H|KCNH6_ENST00000456941.2_Splice_Site_p.D692H NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 745 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) CAACCAGTCAGGTGAGCAAAG 0.642000 7 66 0 0 1 0 0 PAWR 5074 broad.mit.edu 37 12 79986467 79986467 + Missense_Mutation SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr12:79986467C>G ENST00000328827.4 - 7 1315 c.943G>C c.(943-945)Gat>Cat p.D315H NM_002583.2 NP_002574.2 Q96IZ0 PAWR_HUMAN PRKC, apoptosis, WT1, regulator 315 Leucine-zipper. actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 8 TCTATGTCATCTAGGTCCTTA 0.308000 10 33 0 0 1 0 0 FZD5 7855 broad.mit.edu 37 2 208633392 208633392 + Silent SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr2:208633392C>T ENST00000295417.3 - 2 625 c.72G>A c.(70-72)gcG>gcA p.A24A NM_003468.3 NP_003459.2 Q13467 FZD5_HUMAN frizzled family receptor 5 24 angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134) ACGCGGCGGCCGCCCGGCCCA 0.706000 6 5 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228524764 228524764 + Missense_Mutation SNP G G C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr1:228524764G>C ENST00000570156.2 + 76 19542 c.19468G>C c.(19468-19470)Gag>Cag p.E6490Q OBSCN_ENST00000366709.4_Missense_Mutation_p.E2652Q|OBSCN_ENST00000366707.4_Missense_Mutation_p.E3167Q|OBSCN_ENST00000422127.1_Missense_Mutation_p.E5533Q|OBSCN_ENST00000284548.11_Missense_Mutation_p.E5533Q NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 5533 Protein kinase 1. 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) GGTGGGCACAGAGGAGTTCCT 0.637000 11 21 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34080544 34080544 + Missense_Mutation SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr15:34080544G>A ENST00000389232.4 + 67 9785 c.9715G>A c.(9715-9717)Gat>Aat p.D3239N RYR3_ENST00000415757.3_Missense_Mutation_p.D3239N NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3239 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GTTGAAAGCCGATGGCAAAGG 0.567000 50 32 0 0 1 0 0 COG5 10466 broad.mit.edu 37 7 106921791 106921791 + Missense_Mutation SNP T T G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr7:106921791T>G ENST00000393603.2 - 14 1893 c.1622A>C c.(1621-1623)aAt>aCt p.N541T COG5_ENST00000297135.3_Missense_Mutation_p.N541T|COG5_ENST00000347053.3_Missense_Mutation_p.N541T NM_001161520.1 NP_001154992.1 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 541 intra-Golgi vesicle-mediated transport|protein transport cytosol|Golgi membrane|Golgi transport complex|nucleus protein binding breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1) 40 CTTTGCCACATTTTTTGACAC 0.313000 29 44 0 0 1 0 0 KPTN 11133 broad.mit.edu 37 19 47984069 47984069 + Missense_Mutation SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr19:47984069C>G ENST00000338134.3 - 6 654 c.547G>C c.(547-549)Gag>Cag p.E183Q KPTN_ENST00000595484.1_5'UTR|KPTN_ENST00000536339.1_5'UTR NM_007059.2 NP_008990.2 Q9Y664 KPTN_HUMAN kaptin (actin binding protein) 183 actin filament organization|cellular component movement|sensory perception of sound actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium actin binding breast(1)|lung(3)|ovary(2)|pancreas(2) 8 all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694) GGCTGTTCCTCAAACTGATGC 0.607000 127 55 0 0 1 0 0 ZCWPW1 55063 broad.mit.edu 37 7 99998780 99998780 + Missense_Mutation SNP C C A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr7:99998780C>A ENST00000398027.2 - 18 2051 c.1804G>T c.(1804-1806)Gtc>Ttc p.V602F ZCWPW1_ENST00000490721.1_Missense_Mutation_p.V431F|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.V431F|ZCWPW1_ENST00000360951.4_3'UTR NM_017984.4 NP_060454.3 Q9H0M4 ZCPW1_HUMAN zinc finger, CW type with PWWP domain 1 602 zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TCAAGGGGGACACTTCCAGCC 0.617000 25 27 7.38237e-10 7.86533e-10 1 1 0 RAPGEF2 9693 broad.mit.edu 37 4 160267979 160267979 + Missense_Mutation SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr4:160267979G>A ENST00000264431.4 + 19 3477 c.3058G>A c.(3058-3060)Gag>Aag p.E1020K NM_014247.2 NP_055062.1 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor (GEF) 2 1020 cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 70 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) TGTCAAATCCGAGACCTCTCC 0.468000 20 93 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10452387 10452387 + Silent SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr3:10452387C>T ENST00000397077.1 - 5 887 c.312G>A c.(310-312)caG>caA p.Q104Q ATP2B2_ENST00000360273.2_Silent_p.Q104Q|ATP2B2_ENST00000343816.4_Silent_p.Q104Q|ATP2B2_ENST00000383800.4_Silent_p.Q104Q|ATP2B2_ENST00000352432.4_Silent_p.Q104Q Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 104 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 GCGTCACGTCCTGCAGCGCCT 0.557000 134 175 0 0 1 0 0 FHOD3 80206 broad.mit.edu 37 18 34310608 34310608 + Splice_Site SNP G G C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr18:34310608G>C ENST00000257209.4 + 17 3014 c.e17-1 FHOD3_ENST00000590592.1_Splice_Site|FHOD3_ENST00000591635.1_Splice_Site|FHOD3_ENST00000592128.1_Splice_Site|FHOD3_ENST00000445677.1_Splice_Site|FHOD3_ENST00000359247.4_Splice_Site NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) TTATCACTAAGAAAACTGCTG 0.398000 42 49 0 0 1 0 0 GABRA4 2557 broad.mit.edu 37 4 46930375 46930375 + Missense_Mutation SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr4:46930375G>A ENST00000264318.3 - 9 2514 c.1532C>T c.(1531-1533)tCt>tTt p.S511F NM_000809.3|NM_001204266.1|NM_001204267.1 NP_000800.2|NP_001191195.1|NP_001191196.1 P48169 GBRA4_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 4 511 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GCCAGATCCAGAAGGTGGTGG 0.433000 36 43 0 0 1 0 0 METTL3 56339 broad.mit.edu 37 14 21967676 21967676 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr14:21967676C>T ENST00000298717.4 - 8 1563 c.1412G>A c.(1411-1413)cGt>cAt p.R471H NM_019852.3 NP_062826.2 Q86U44 MTA70_HUMAN methyltransferase like 3 471 gene expression nuclear speck mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(95;0.000628) Epithelial(56;6.61e-06) GBM - Glioblastoma multiforme(265;0.0146) GTGACCTGTACGGCCTGTCCG 0.443000 64 9 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 35751167 35751167 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr13:35751167C>T ENST00000540320.1 + 28 5123 c.4589C>T c.(4588-4590)cCt>cTt p.P1530L NBEA_ENST00000400445.3_Missense_Mutation_p.P1530L|NBEA_ENST00000379939.2_Missense_Mutation_p.P1527L|NBEA_ENST00000310336.4_Missense_Mutation_p.P1530L Q8NFP9 NBEA_HUMAN neurobeachin 1530 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) AACCTTTCTCCTATTAAGGAT 0.353000 3 10 0 0 1 0 0 C11orf85 283129 broad.mit.edu 37 11 64717303 64717303 + Missense_Mutation SNP G G C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr11:64717303G>C ENST00000301896.5 - 6 334 c.261C>G c.(259-261)ttC>ttG p.F87L C11orf85_ENST00000530444.1_Intron|C11orf85_ENST00000432175.1_Missense_Mutation_p.F87L|C11orf85_ENST00000536065.1_5'UTR NM_001037225.1 NP_001032302.1 Q3KP22 CK085_HUMAN chromosome 11 open reading frame 85 87 breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2) 7 CCCCATGTTTGAATTTCAGGT 0.393000 58 58 0 0 1 0 0 GNB2L1 10399 broad.mit.edu 37 5 180668545 180668545 + Missense_Mutation SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr5:180668545C>G ENST00000512805.1 - 3 784 c.376G>C c.(376-378)Gat>Cat p.D126H GNB2L1_ENST00000505461.1_5'UTR|GNB2L1_ENST00000511900.1_Intron|GNB2L1_ENST00000456394.2_Missense_Mutation_p.D126H|GNB2L1_ENST00000376817.4_Missense_Mutation_p.D82H|GNB2L1_ENST00000504726.1_Intron|GNB2L1_ENST00000511566.1_Missense_Mutation_p.D126H NM_006098.4 NP_006089.1 P63244 GBLP_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1 126 apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding lung(3)|skin(2) 5 all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654) all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11) ATGGTTTTATCTCGAGATCCA 0.507000 12 63 0 0 1 0 0 TCTN1 79600 broad.mit.edu 37 12 111085637 111085637 + Silent SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr12:111085637C>T ENST00000551590.1 + 14 1860 c.1704C>T c.(1702-1704)ttC>ttT p.F568F TCTN1_ENST00000397659.4_Silent_p.F573F|TCTN1_ENST00000377654.3_3'UTR|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397655.3_Silent_p.F554F Q2MV58 TECT1_HUMAN tectonic family member 1 568 multicellular organismal development extracellular region NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1) 15 AGGCAGGCTTCAGAGCTCCAC 0.498000 28 27 0 0 1 0 0 MYO7A 4647 broad.mit.edu 37 11 76915148 76915148 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr11:76915148C>T ENST00000409709.3 + 39 5626 c.5354C>T c.(5353-5355)cCg>cTg p.P1785L MYO7A_ENST00000409619.2_Missense_Mutation_p.P1736L|MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000458637.2_Missense_Mutation_p.P1747L NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 1785 MyTH4 2. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GGCGACTACCCGTCCAAGAGG 0.612000 3 5 0 0 1 0 0 EOMES 8320 broad.mit.edu 37 3 27760355 27760355 + Silent SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr3:27760355G>A ENST00000295743.4 - 4 1391 c.1188C>T c.(1186-1188)taC>taT p.Y396Y EOMES_ENST00000461503.1_5'UTR|EOMES_ENST00000537516.1_Silent_p.Y101Y|EOMES_ENST00000449599.1_Silent_p.Y396Y O95936 EOMES_HUMAN eomesodermin 396 CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1) 21 GTCGGGGTTGGTATTTGTGTA 0.383000 20 29 0 0 1 0 0 FMN1 342184 broad.mit.edu 37 15 33359374 33359374 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr15:33359374C>T ENST00000334528.9 - 1 711 c.712G>A c.(712-714)Gaa>Aaa p.E238K FMN1_ENST00000559047.1_Intron|FMN1_ENST00000558197.1_Missense_Mutation_p.E238K|FMN1_ENST00000559150.1_Intron|FMN1_ENST00000561249.1_Intron NM_001103184.2 NP_001096654.1 Q68DA7 FMN1_HUMAN formin 1 0 Microtubule-binding (By similarity). actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 29 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) TGGGACCCTTCTTCTCCCACC 0.507000 34 48 0 0 1 0 0 WNT9B 7484 broad.mit.edu 37 17 44954072 44954072 + Silent SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr17:44954072C>T ENST00000290015.2 + 4 1115 c.1062C>T c.(1060-1062)acC>acT p.T354T WNT9B_ENST00000393461.2_Intron NM_003396.1 NP_003387.1 O14905 WNT9B_HUMAN wingless-type MMTV integration site family, member 9B 354 anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding large_intestine(2)|lung(8) 10 BRCA - Breast invasive adenocarcinoma(9;0.0257) TTGTGTACACCTGCAAGCACT 0.637000 8 55 0 0 1 0 0 KLHL42 57542 broad.mit.edu 37 12 27934101 27934101 + Missense_Mutation SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr12:27934101G>A ENST00000381271.2 + 1 1149 c.838G>A c.(838-840)Gag>Aag p.E280K NM_020782.1 NP_065833.1 kelch-like family member 42 CAGCACCAACGAGTGGCTCCA 0.547000 9 17 0 0 1 0 0 NCSTN 23385 broad.mit.edu 37 1 160321571 160321571 + Missense_Mutation SNP C C A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr1:160321571C>A ENST00000368063.1 + 8 1039 c.759C>A c.(757-759)gaC>gaA p.D253E NCSTN_ENST00000535857.1_Intron|NCSTN_ENST00000368065.4_Missense_Mutation_p.D15E|NCSTN_ENST00000294785.5_Missense_Mutation_p.D273E|NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000392212.4_Missense_Mutation_p.D253E Q92542 NICA_HUMAN nicastrin 273 amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2) 34 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AGCCTGACGACAGGGTTGTGG 0.512000 64 137 7.41606e-26 8.48258e-26 1 1 0 ZNF442 79973 broad.mit.edu 37 19 12462045 12462045 + Silent SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr19:12462045G>A ENST00000242804.4 - 6 936 c.354C>T c.(352-354)agC>agT p.S118S ZNF442_ENST00000438182.1_Silent_p.S49S NM_030824.2 NP_110451.1 Q9H7R0 ZN442_HUMAN zinc finger protein 442 118 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 31 CACACACACTGCTTTTACATG 0.398000 5 112 0 0 1 0 0 VPS54 51542 broad.mit.edu 37 2 64160937 64160937 + Nonsense_Mutation SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr2:64160937G>A ENST00000409558.4 - 12 1727 c.1573C>T c.(1573-1575)Caa>Taa p.Q525* VPS54_ENST00000354504.3_Nonsense_Mutation_p.Q384*|VPS54_ENST00000272322.4_Nonsense_Mutation_p.Q537* NM_001005739.1|NM_016516.2 NP_001005739.1|NP_057600.2 Q9P1Q0 VPS54_HUMAN vacuolar protein sorting 54 homolog (S. cerevisiae) protein transport|retrograde transport, endosome to Golgi p.Q537*(1) endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 27 GCATTTCTTTGAGAGGTAGTG 0.443000 38 51 0 0 1 0 0 LRSAM1 90678 broad.mit.edu 37 9 130221351 130221351 + Splice_Site SNP G G T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr9:130221351G>T ENST00000323301.4 + 6 925 c.e6+1 LRSAM1_ENST00000373322.1_Splice_Site|LRSAM1_ENST00000373324.4_Splice_Site|LRSAM1_ENST00000300417.6_Splice_Site NM_138361.5 NP_612370.3 Q6UWE0 LRSM1_HUMAN leucine rich repeat and sterile alpha motif containing 1 negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis cytoplasm|extracellular region|membrane part hormone activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2) 16 TGCCCTCCAGGTAAGGCTGCA 0.562000 12 36 0.00010058 0.000103609 1 1 0 TCF23 150921 broad.mit.edu 37 2 27373165 27373165 + Missense_Mutation SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr2:27373165G>A ENST00000296096.5 + 2 527 c.397G>A c.(397-399)Ggc>Agc p.G133S NM_175769.2 NP_786951.1 Q7RTU1 TCF23_HUMAN transcription factor 23 133 cell differentiation|muscle organ development|regulation of transcription, DNA-dependent nucleus large_intestine(2)|lung(11)|prostate(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCGCACACTCGGCCACGAGTT 0.662000 87 90 0 0 1 0 0 RBM45 129831 broad.mit.edu 37 2 178990886 178990886 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr2:178990886C>T ENST00000286070.5 + 9 1500 c.1408C>T c.(1408-1410)Cgg>Tgg p.R470W RBM45_ENST00000464647.1_3'UTR NM_152945.2 NP_694453.2 Q8IUH3 RBM45_HUMAN RNA binding motif protein 45 472 cell differentiation|nervous system development cytoplasm|nucleus nucleotide binding|RNA binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037) ATCTAACAAACGGCAAAGAAC 0.348000 33 44 0 0 1 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27536649 27536649 + RNA SNP C C A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr10:27536649C>A ENST00000574842.1 + 0 255 LRRC37A6P_ENST00000284414.4_RNA TGTTCACTCTCTGCAGGTTTT 0.438000 13 15 4.93089e-13 5.35354e-13 1 1 0 TUBA4A 7277 broad.mit.edu 37 2 220115094 220115094 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr2:220115094C>T ENST00000392088.2 - 4 1837 c.1282G>A c.(1282-1284)Gag>Aag p.E428K TUBA4A_ENST00000248437.4_Missense_Mutation_p.E443K NM_001278552.1 NP_001265481.1 P68366 TBA4A_HUMAN tubulin, alpha 4a 443 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization cytosol|extracellular region|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 20 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCCTCATCCTCGTCCTCATAG 0.502000 5 89 0 0 1 0 0 USP33 23032 broad.mit.edu 37 1 78183636 78183636 + Missense_Mutation SNP G G T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr1:78183636G>T ENST00000370793.1 - 18 2273 c.1927C>A c.(1927-1929)Cag>Aag p.Q643K USP33_ENST00000370794.3_Missense_Mutation_p.Q612K|USP33_ENST00000370792.3_Missense_Mutation_p.Q635K|USP33_ENST00000357428.1_Missense_Mutation_p.Q643K NM_015017.4 NP_055832.3 Q8TEY7 UBP33_HUMAN ubiquitin specific peptidase 33 643 axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 44 AGAAATGGCTGAAGATCCAAG 0.378000 36 59 1.26612e-14 1.40133e-14 1 1 0 FLNC 2318 broad.mit.edu 37 7 128485245 128485245 + Silent SNP C C A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr7:128485245C>A ENST00000325888.8 + 21 3987 c.3726C>A c.(3724-3726)gtC>gtA p.V1242V FLNC_ENST00000346177.6_Silent_p.V1242V NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1242 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 CCACCCGTGTCCATGTGCAGC 0.592000 7 30 0.00198382 0.00201325 1 1 0 MIR124-2HG 100130155 broad.mit.edu 37 8 65291708 65291708 + RNA SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr8:65291708C>G ENST00000521441.1 + 0 655 MIR124-2_ENST00000385081.1_RNA CTTTCCGGATCAAGATTAGAG 0.512000 6 36 0 0 1 0 0 PBXIP1 57326 broad.mit.edu 37 1 154918384 154918384 + Nonsense_Mutation SNP G G C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr1:154918384G>C ENST00000368463.3 - 10 1837 c.1766C>G c.(1765-1767)tCa>tGa p.S589* PBXIP1_ENST00000368465.1_Nonsense_Mutation_p.S560*|PBXIP1_ENST00000542459.1_Nonsense_Mutation_p.S434*|PBXIP1_ENST00000539880.1_Nonsense_Mutation_p.S416* NM_020524.2 NP_065385.2 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 1 589 cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1) 24 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) GTCCACACCTGAGCAGCCCTG 0.622000 7 108 0 0 1 0 0 RAB11FIP2 22841 broad.mit.edu 37 10 119799708 119799708 + Missense_Mutation SNP A A T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr10:119799708A>T ENST00000355624.3 - 2 1161 c.722T>A c.(721-723)cTg>cAg p.L241Q RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.L241Q|RP11-354M20.3_ENST00000451610.2_RNA|RP11-354M20.3_ENST00000417968.4_RNA NM_014904.2 NP_055719.1 Q7L804 RFIP2_HUMAN RAB11 family interacting protein 2 (class I) 241 protein transport plasma membrane|recycling endosome membrane protein homodimerization activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8) 19 Colorectal(252;0.235) all cancers(201;0.0238) GCCAGCCTTCAGTTTCTCAGA 0.443000 29 27 0 0 1 0 0 HHIPL1 84439 broad.mit.edu 37 14 100126738 100126738 + Missense_Mutation SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr14:100126738G>A ENST00000330710.5 + 5 1595 c.1497G>A c.(1495-1497)atG>atA p.M499I HHIPL1_ENST00000357223.2_Missense_Mutation_p.M499I NM_001127258.1 NP_001120730.1 Q96JK4 HIPL1_HUMAN HHIP-like 1 499 carbohydrate metabolic process extracellular region|membrane oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2) 15 Melanoma(154;0.128) GGGATTTCATGAGCGGGTAAG 0.617000 47 57 0 0 1 0 0 PTPRH 5794 broad.mit.edu 37 19 55693262 55693262 + Missense_Mutation SNP C C T rs140496718 TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr19:55693262C>T ENST00000376350.3 - 20 3230 c.3208G>A c.(3208-3210)Gta>Ata p.V1070I PTPRH_ENST00000263434.5_Missense_Mutation_p.V892I NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 1070 Tyrosine-protein phosphatase. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) TGCAGGAATACGTACTGAGCC 0.622000 28 76 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24885497 24885497 + Silent SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr14:24885497C>T ENST00000382554.3 + 9 4860 c.4542C>T c.(4540-4542)ctC>ctT p.L1514L NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1514 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 TTAACTCACTCAGCCTCGACA 0.552000 7 2 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58206918 58206918 + Missense_Mutation SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr13:58206918G>A ENST00000377918.3 + 1 264 c.238G>A c.(238-240)Gac>Aac p.D80N NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 80 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CGTGGACGCAGACAGCGGGCT 0.672000 7 12 0 0 1 0 0 FGFR2 2263 broad.mit.edu 37 10 123247514 123247514 + Missense_Mutation SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr10:123247514C>G ENST00000358487.5 - 14 2249 c.1977G>C c.(1975-1977)aaG>aaC p.K659N FGFR2_ENST00000346997.2_Missense_Mutation_p.K657N|FGFR2_ENST00000360144.3_Missense_Mutation_p.K571N|FGFR2_ENST00000356226.4_Missense_Mutation_p.K542N|FGFR2_ENST00000457416.2_Missense_Mutation_p.K660N|FGFR2_ENST00000369056.1_Missense_Mutation_p.K660N|FGFR2_ENST00000357555.5_Missense_Mutation_p.K570N|FGFR2_ENST00000369060.4_Missense_Mutation_p.K543N|FGFR2_ENST00000369061.4_Missense_Mutation_p.K547N|FGFR2_ENST00000478859.1_Missense_Mutation_p.K431N|FGFR2_ENST00000369059.1_Missense_Mutation_p.K545N|FGFR2_ENST00000351936.6_Missense_Mutation_p.K657N NM_000141.4 NP_000132.3 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 659 Protein kinase. K -> N (in craniosynostosis). angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding p.K659N(2)|p.K660N(1)|p.K570N(1)|p.K657N(1) breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) CATTGGTGGTCTTTTTGTAAT 0.448000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 24 63 0 0 1 0 0 OR6C1 390321 broad.mit.edu 37 12 55714857 55714857 + Silent SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr12:55714857C>G ENST00000379668.2 + 1 512 c.474C>G c.(472-474)ctC>ctG p.L158L NM_001005182.1 NP_001005182.1 Q96RD1 OR6C1_HUMAN olfactory receptor, family 6, subfamily C, member 1 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 25 TCCCAGCACTCATGTTGCTTT 0.378000 19 18 0 0 1 0 0 OTOF 9381 broad.mit.edu 37 2 26684662 26684662 + Missense_Mutation SNP T T A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr2:26684662T>A ENST00000272371.2 - 43 5561 c.5435A>T c.(5434-5436)gAg>gTg p.E1812V OTOF_ENST00000339598.3_Missense_Mutation_p.E1045V|OTOF_ENST00000338581.6_Missense_Mutation_p.E1045V|OTOF_ENST00000403946.3_Missense_Mutation_p.E1812V|OTOF_ENST00000402415.3_Missense_Mutation_p.E1122V NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 1812 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAACATGGACTCCTTCTTGGA 0.602000 67 107 0 0 1 0 0 CDON 50937 broad.mit.edu 37 11 125867251 125867251 + Missense_Mutation SNP T T C rs149325046 TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr11:125867251T>C ENST00000392693.3 - 12 2340 c.2213A>G c.(2212-2214)tAt>tGt p.Y738C CDON_ENST00000531738.1_Missense_Mutation_p.Y115C|CDON_ENST00000263577.7_Missense_Mutation_p.Y738C NM_001243597.1|NM_016952.4 NP_001230526.1|NP_058648.4 Q4KMG0 CDON_HUMAN cell adhesion associated, oncogene regulated 738 Fibronectin type-III 2. cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) CCAAGTGACATAGACTGATGT 0.493000 5 43 0 0 1 0 0 CNTRL 11064 broad.mit.edu 37 9 123904378 123904378 + Missense_Mutation SNP G G C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr9:123904378G>C ENST00000373855.1 + 19 2961 c.2701G>C c.(2701-2703)Gat>Cat p.D901H CNTRL_ENST00000373847.1_Missense_Mutation_p.D349H|CNTRL_ENST00000238341.5_Missense_Mutation_p.D901H|CNTRL_ENST00000373850.1_Missense_Mutation_p.D349H Q7Z7A1 CNTRL_HUMAN centriolin 901 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 GATGAATTTTGATAAGAGGCA 0.294000 13 5 0 0 1 0 0 PPEF1 5475 broad.mit.edu 37 X 18822097 18822097 + Missense_Mutation SNP G G C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chrX:18822097G>C ENST00000361511.4 + 14 1647 c.1153G>C c.(1153-1155)Gat>Cat p.D385H PPEF1_ENST00000544635.1_Missense_Mutation_p.D320H|PPEF1_ENST00000543630.1_Intron|PPEF1_ENST00000359763.6_Missense_Mutation_p.D332H|PPEF1_ENST00000349874.5_Intron NM_006240.2|NM_152224.1 NP_006231.2|NP_689410.1 O14829 PPE1_HUMAN protein phosphatase, EF-hand calcium binding domain 1 385 Catalytic. detection of stimulus involved in sensory perception|protein dephosphorylation calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 43 Hepatocellular(33;0.183) TTTTGGACCAGATGTTACTTC 0.423000 24 39 0 0 1 0 0 GABRE 2564 broad.mit.edu 37 X 151129820 151129820 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chrX:151129820C>T ENST00000370325.1 - 5 634 c.581G>A c.(580-582)gGa>gAa p.G194E GABRE_ENST00000393914.3_Intron|GABRE_ENST00000370328.3_Missense_Mutation_p.G194E P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 194 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) GAGTGAGCATCCGGCATCAAT 0.507000 10 38 0 0 1 0 0 TTK 7272 broad.mit.edu 37 6 80741194 80741194 + Missense_Mutation SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr6:80741194C>G ENST00000509894.1 + 14 2358 c.1529C>G c.(1528-1530)tCt>tGt p.S510C TTK_ENST00000369798.2_Missense_Mutation_p.S511C|TTK_ENST00000230510.3_Missense_Mutation_p.S510C P33981 TTK_HUMAN TTK protein kinase 511 mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1) 53 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) GTTTTAGCATCTTCTTCAGCA 0.299000 31 40 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9402088 9402088 + Missense_Mutation SNP G G C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr20:9402088G>C ENST00000378501.2 + 23 2278 c.2263G>C c.(2263-2265)Gag>Cag p.E755Q PLCB4_ENST00000334005.3_Missense_Mutation_p.E755Q|PLCB4_ENST00000278655.4_Missense_Mutation_p.E755Q|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Missense_Mutation_p.E767Q|PLCB4_ENST00000378493.1_Missense_Mutation_p.E755Q|PLCB4_ENST00000378473.3_Missense_Mutation_p.E767Q NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 755 C2. intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 TTACAATGAAGAGTCATTTGT 0.423000 25 51 0 0 1 0 0 MIR99AHG 388815 broad.mit.edu 37 21 17443705 17443705 + RNA SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr21:17443705C>T ENST00000458468.1 + 0 299 NR_027790.1 CTCAGCCAATCAGTGACATCA 0.507000 5 13 0 0 1 0 0 HSPA8 3312 broad.mit.edu 37 11 122929133 122929133 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr11:122929133C>T ENST00000534624.1 - 8 1858 c.1582G>A c.(1582-1584)Gaa>Aaa p.E528K HSPA8_ENST00000227378.3_Missense_Mutation_p.E528K|HSPA8_ENST00000534319.1_Missense_Mutation_p.E292K|HSPA8_ENST00000532636.1_Missense_Mutation_p.E528K|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000526110.1_Missense_Mutation_p.E509K|HSPA8_ENST00000533540.1_Missense_Mutation_p.E382K NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 528 cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) TTCTCATCTTCAGCTTTGTAC 0.413000 63 70 0 0 1 0 0 SRBD1 55133 broad.mit.edu 37 2 45829094 45829094 + Missense_Mutation SNP T T C rs146680640 byFrequency TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr2:45829094T>C ENST00000263736.4 - 3 271 c.209A>G c.(208-210)aAt>aGt p.N70S NM_018079.4 NP_060549.4 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 70 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1) 49 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) CTGTGGGGCATTCTTCTTCAC 0.512000 49 113 0 0 1 0 0 ATN1 1822 broad.mit.edu 37 12 7045248 7045248 + Missense_Mutation SNP C C A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr12:7045248C>A ENST00000356654.4 + 5 1055 c.818C>A c.(817-819)aCa>aAa p.T273K ATN1_ENST00000396684.2_Missense_Mutation_p.T273K NM_001007026.1 NP_001007027.1 P54259 ATN1_HUMAN atrophin 1 273 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 GCTCCCCCAACAAAGCCGCCT 0.622000 4 37 0.217242 0.217242 1 1 0 HSPA4 3308 broad.mit.edu 37 5 132426918 132426918 + Missense_Mutation SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr5:132426918C>G ENST00000304858.2 + 12 1701 c.1412C>G c.(1411-1413)tCt>tGt p.S471C NM_002154.3 NP_002145.3 P34932 HSP74_HUMAN heat shock 70kDa protein 4 471 cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein cytoplasm|nucleus ATP binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ACTCCTCAGTCTGATGGCTCC 0.418000 5 129 0 0 1 0 0 RBM8A 9939 broad.mit.edu 37 1 145508608 145508608 + Silent SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr1:145508608G>A ENST00000330165.8 + 4 408 c.339G>A c.(337-339)ctG>ctA p.L113L RBM8A_ENST00000369307.3_Silent_p.L112L NM_005105.3 NP_005096.1 Q9Y5S9 RBM8A_HUMAN RNA binding motif protein 8A RRM. mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck mRNA binding|nucleotide binding|protein binding kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 6 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CAGGATATCTGAAGGTATCCT 0.428000 98 7 0 0 1 0 0 RBM8A 9939 broad.mit.edu 37 1 145509201 145509201 + Missense_Mutation SNP G G C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr1:145509201G>C ENST00000330165.8 + 6 584 c.515G>C c.(514-516)aGa>aCa p.R172T RBM8A_ENST00000369307.3_Missense_Mutation_p.R171T NM_005105.3 NP_005096.1 Q9Y5S9 RBM8A_HUMAN RNA binding motif protein 8A mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck mRNA binding|nucleotide binding|protein binding kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 6 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CCAGACCGGAGACGTCGCTGA 0.502000 41 9 0 0 1 0 0 MEI1 150365 broad.mit.edu 37 22 42126602 42126602 + Nonsense_Mutation SNP G G T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr22:42126602G>T ENST00000401548.3 + 9 1097 c.1057G>T c.(1057-1059)Gaa>Taa p.E353* MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000540833.1_Nonsense_Mutation_p.E93*|MEI1_ENST00000300398.4_5'UTR NM_152513.3 NP_689726.3 Q5TIA1 MEI1_HUMAN meiosis inhibitor 1 353 binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 ACTCCTGGTAGAAGAGCCACT 0.488000 18 35 0.00152264 0.00155446 1 1 0 TMC4 147798 broad.mit.edu 37 19 54667405 54667405 + Silent SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr19:54667405C>T ENST00000416963.1 - 1 20 c.21G>A c.(19-21)caG>caA p.Q7Q TMC4_ENST00000376591.4_Intron|TMC4_ENST00000301187.4_Intron Q7Z404 TMC4_HUMAN transmembrane channel-like 4 0 integral to membrane p.Q7H(1) breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CAACATCCCTCTGACCGCCCC 0.572000 OREG0003641 type=REGULATORY REGION|Gene=AK124406|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 14 41 0 0 1 0 0 TRIM51 84767 broad.mit.edu 37 11 55658697 55658697 + Silent SNP A A G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr11:55658697A>G ENST00000449290.2 + 7 1040 c.948A>G c.(946-948)caA>caG p.Q316Q TRIM51_ENST00000244891.3_Silent_p.Q173Q NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 316 B30.2/SPRY. intracellular zinc ion binding GTGACCCTCAAGATGATCCCG 0.418000 26 90 0 0 1 0 0 HEG1 57493 broad.mit.edu 37 3 124738120 124738120 + Missense_Mutation SNP C C A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr3:124738120C>A ENST00000311127.4 - 5 1641 c.1574G>T c.(1573-1575)cGt>cTt p.R525L HEG1_ENST00000477536.1_5'UTR NM_020733.1 NP_065784.1 Q9ULI3 HEG1_HUMAN heart development protein with EGF-like domains 1 525 Ser-rich. extracellular region|integral to membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 ACGTTCTCCACGTGGTGCTGA 0.448000 15 22 2.32078e-09 2.4573e-09 1 1 0 HELZ2 85441 broad.mit.edu 37 20 62196284 62196284 + Silent SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr20:62196284G>A ENST00000467148.1 - 8 3960 c.3891C>T c.(3889-3891)ctC>ctT p.L1297L HELZ2_ENST00000427522.2_Silent_p.L728L NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator CGAGGATGCGGAGGCCCTGCT 0.642000 7 16 0 0 1 0 0 LIM2 3982 broad.mit.edu 37 19 51890569 51890569 + Nonsense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr19:51890569C>T ENST00000221973.3 - 2 171 c.129G>A c.(127-129)tgG>tgA p.W43* LIM2_ENST00000596399.1_Nonsense_Mutation_p.W43* NM_030657.3 NP_085915.2 P55344 LMIP_HUMAN lens intrinsic membrane protein 2, 19kDa 43 cell-cell junction assembly cell junction|integral to membrane structural constituent of eye lens endometrium(1)|large_intestine(3)|lung(2)|skin(1) 7 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985) GGCAGTACCGCCACAGGCCCT 0.672000 31 90 0 0 1 0 0 ASB11 140456 broad.mit.edu 37 X 15307698 15307698 + Nonsense_Mutation SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chrX:15307698G>A ENST00000537676.1 - 5 592 c.520C>T c.(520-522)Cag>Tag p.Q174* ASB11_ENST00000480796.1_Nonsense_Mutation_p.Q195*|ASB11_ENST00000380470.3_Nonsense_Mutation_p.Q178*|ASB11_ENST00000344384.4_Nonsense_Mutation_p.Q174* Q8WXH4 ASB11_HUMAN ankyrin repeat and SOCS box containing 11 195 intracellular signal transduction breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1) 16 Hepatocellular(33;0.183) GTTCCGAGCTGAGGCACCTCA 0.448000 63 141 0 0 1 0 0 HNF4A 3172 broad.mit.edu 37 20 43043184 43043184 + Missense_Mutation SNP G G C rs142883089 TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr20:43043184G>C ENST00000316099.4 + 5 619 c.530G>C c.(529-531)cGg>cCg p.R177P HNF4A_ENST00000415691.2_Missense_Mutation_p.R177P|HNF4A_ENST00000316673.4_Missense_Mutation_p.R155P|HNF4A_ENST00000457232.1_Missense_Mutation_p.R155P|HNF4A_ENST00000443598.2_Missense_Mutation_p.R177P|HNF4A_ENST00000609795.1_Missense_Mutation_p.R155P NM_000457.4|NM_001258355.1|NM_178849.2 NP_000448.3|NP_001245284.1|NP_849180.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GGCGACATTCGGGCGAAGAAG 0.577000 14 28 0 0 1 0 0 OR12D3 81797 broad.mit.edu 37 6 29342816 29342816 + Silent SNP G G T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr6:29342816G>T ENST00000396806.3 - 1 252 c.249C>A c.(247-249)ctC>ctA p.L83L OR5V1_ENST00000377154.1_Intron NM_030959.2 NP_112221.1 Q9UGF7 O12D3_HUMAN olfactory receptor, family 12, subfamily D, member 3 83 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3) 23 GACTGCACACGAGGTTTACGA 0.453000 23 37 2.39556e-15 2.66867e-15 1 1 0 BPTF 2186 broad.mit.edu 37 17 65978372 65978372 + Missense_Mutation SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr17:65978372C>G ENST00000321892.4 + 30 9170 c.9109C>G c.(9109-9111)Cat>Gat p.H3037D BPTF_ENST00000306378.6_Missense_Mutation_p.H2911D|BPTF_ENST00000424123.3_Missense_Mutation_p.H2755D|BPTF_ENST00000335221.5_Missense_Mutation_p.H2894D Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 3037 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) CTGTAGGTCTCATAACAACAA 0.368000 30 76 0 0 1 0 0 CFB 629 broad.mit.edu 37 6 31905101 31905101 + Nonsense_Mutation SNP G G T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr6:31905101G>T ENST00000556679.1 + 5 590 c.535G>T c.(535-537)Gaa>Taa p.E179* C2_ENST00000469372.1_Nonsense_Mutation_p.E86*|CFB_ENST00000477310.1_Nonsense_Mutation_p.E150*|C2_ENST00000299367.5_Nonsense_Mutation_p.E332*|C2_ENST00000452323.2_Nonsense_Mutation_p.E118*|CFB_ENST00000456570.1_Nonsense_Mutation_p.E179*|C2_ENST00000442278.2_Nonsense_Mutation_p.E200* P00751 CFAB_HUMAN complement factor B 348 Sushi 3. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 TCCAGATCATGAAAATGGAAC 0.463000 39 87 2.35958e-20 2.67211e-20 1 1 0 AQR 9716 broad.mit.edu 37 15 35182483 35182483 + Missense_Mutation SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr15:35182483C>G ENST00000156471.5 - 24 2839 c.2614G>C c.(2614-2616)Gat>Cat p.D872H NM_014691.2 NP_055506.1 O60306 AQR_HUMAN aquarius intron-binding spliceosomal factor 872 catalytic step 2 spliceosome RNA binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) TGGCGCTCATCAATGTCTAAT 0.428000 58 119 0 0 1 0 0 ABHD15 116236 broad.mit.edu 37 17 27889648 27889648 + Missense_Mutation SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr17:27889648C>G ENST00000307201.4 - 2 1508 c.1338G>C c.(1336-1338)caG>caC p.Q446H RP11-68I3.2_ENST00000581474.1_RNA NM_198147.2 NP_937790.2 Q6UXT9 ABH15_HUMAN abhydrolase domain containing 15 446 extracellular region carboxylesterase activity breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 10 CTTCCCGCCTCTGCAAGGCTC 0.572000 26 33 0 0 1 0 0 IGF2R 3482 broad.mit.edu 37 6 160482598 160482598 + Missense_Mutation SNP T T A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr6:160482598T>A ENST00000356956.1 + 24 3474 c.3326T>A c.(3325-3327)gTt>gAt p.V1109D NM_000876.2 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 1109 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) TGGACGGCTGTTGACACCTCT 0.502000 7 130 0 0 1 0 0 ECE2 9718 broad.mit.edu 37 3 183995837 183995837 + Splice_Site SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr3:183995837G>A ENST00000402825.3 + 5 957 c.957G>A c.(955-957)aaG>aaA p.K319K ECE2_ENST00000357474.5_Splice_Site_p.K247K|ECE2_ENST00000404464.3_Splice_Site_p.K201K|ECE2_ENST00000359140.4_Splice_Site_p.K172K|EIF2B5_ENST00000444495.1_Intron NM_014693.3 NP_055508.3 O60344 ECE2_HUMAN endothelin converting enzyme 2 319 Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TCATTGAGAAGGTAGGGCCAC 0.582000 8 74 0 0 1 0 0 ARL8A 127829 broad.mit.edu 37 1 202107112 202107112 + Missense_Mutation SNP G G C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr1:202107112G>C ENST00000272217.2 - 3 427 c.259C>G c.(259-261)Cga>Gga p.R87G ARL8A_ENST00000486225.1_5'UTR NM_001256129.1|NM_138795.3 NP_001243058.1|NP_620150.1 Q96BM9 ARL8A_HUMAN ADP-ribosylation factor-like 8A 87 cell division|chromosome segregation|mitosis|small GTPase mediated signal transduction late endosome membrane|lysosomal membrane|midbody|spindle midzone alpha-tubulin binding|beta-tubulin binding|GTP binding|GTPase activity large_intestine(1)|lung(2)|ovary(2)|skin(1) 6 CTCACTCCTCGGCAGTAGCGC 0.637000 4 26 0 0 1 0 0 PROX2 283571 broad.mit.edu 37 14 75329860 75329860 + Silent SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr14:75329860C>G ENST00000556084.2 - 1 677 c.678G>C c.(676-678)ctG>ctC p.L226L PROX2_ENST00000556489.2_Silent_p.L226L|PROX2_ENST00000445876.1_Silent_p.L226L NM_001080408.2 NP_001073877.2 Q3B8N5 PROX2_HUMAN prospero homeobox 2 226 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(1)|large_intestine(2)|lung(3) 6 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00652) GCTCTTTCCTCAGAATCTCTA 0.532000 28 48 0 0 1 0 0 NANOG 79923 broad.mit.edu 37 12 7947073 7947073 + Silent SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr12:7947073C>T ENST00000229307.4 + 3 654 c.435C>T c.(433-435)aaC>aaT p.N145N NANOG_ENST00000526286.1_Silent_p.N145N NM_024865.2 NP_079141.2 Q9H9S0 NANOG_HUMAN Nanog homeobox 145 cell proliferation|embryo development|somatic stem cell maintenance nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 14 Kidney(36;0.0872) GGTTCCAGAACCAGAGAATGA 0.363000 5 27 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92531985 92531985 + Missense_Mutation SNP A A T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr11:92531985A>T ENST00000298047.6 + 9 5823 c.5806A>T c.(5806-5808)Agt>Tgt p.S1936C FAT3_ENST00000525166.1_Missense_Mutation_p.S1786C|FAT3_ENST00000409404.2_Missense_Mutation_p.S1936C Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1936 Cadherin 17. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TGACTCAAACAGTGGAGTACT 0.423000 TCGA Ovarian(4;0.039) 25 27 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155450771 155450771 + Silent SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr6:155450771C>T ENST00000461783.3 + 6 1687 c.414C>T c.(412-414)ctC>ctT p.L138L TIAM2_ENST00000529824.2_Silent_p.L138L|TIAM2_ENST00000360366.4_Silent_p.L138L|TIAM2_ENST00000318981.5_Silent_p.L138L|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000456144.1_Silent_p.L138L Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 138 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) GACACCTTCTCAACTGCTACG 0.572000 11 16 0 0 1 0 0 HPS4 89781 broad.mit.edu 37 22 26875278 26875278 + Missense_Mutation SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr22:26875278C>G ENST00000398145.2 - 3 701 c.85G>C c.(85-87)Gaa>Caa p.E29Q HPS4_ENST00000398141.1_Missense_Mutation_p.E24Q|HPS4_ENST00000336873.5_Missense_Mutation_p.E29Q|HPS4_ENST00000402105.3_Missense_Mutation_p.E24Q NM_022081.5 NP_071364.4 Q9NQG7 HPS4_HUMAN Hermansky-Pudlak syndrome 4 29 lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting lysosome|melanosome|membrane fraction|platelet dense granule protein homodimerization activity breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 32 GGATCGCCTTCTTCCTTTACC 0.433000 Hermansky-Pudlak syndrome 9 23 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 41306533 41306533 + Missense_Mutation SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr20:41306533G>A ENST00000373198.4 - 7 1361 c.1126C>T c.(1126-1128)Ccc>Tcc p.P376S PTPRT_ENST00000373187.1_Missense_Mutation_p.P376S|PTPRT_ENST00000356100.2_Missense_Mutation_p.P376S|PTPRT_ENST00000373201.1_Missense_Mutation_p.P376S|PTPRT_ENST00000373193.3_Missense_Mutation_p.P376S|PTPRT_ENST00000373190.1_Missense_Mutation_p.P376S|PTPRT_ENST00000373184.1_Missense_Mutation_p.P376S NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T Fibronectin type-III 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GTGGTGAGGGGAGGCCCTGGC 0.547000 32 50 0 0 1 0 0 SLC6A1 6529 broad.mit.edu 37 3 11076243 11076243 + Silent SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr3:11076243G>A ENST00000287766.4 + 15 1975 c.1554G>A c.(1552-1554)caG>caA p.Q518Q SLC6A1_ENST00000536032.1_Silent_p.Q340Q NM_003042.3 NP_003033.3 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter transporter), member 1 518 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) GTGCTGTGCAGATGACGCCAC 0.602000 13 30 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141201949 141201949 + Missense_Mutation SNP C C A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr2:141201949C>A ENST00000389484.3 - 65 11215 c.10244G>T c.(10243-10245)aGa>aTa p.R3415I NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3415 LDL-receptor class A 23. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CCCATTACATCTTAAGTTTAC 0.393000 TSP Lung(27;0.18) 26 115 1.2476e-16 1.39438e-16 1 1 0 SNHG11 128439 broad.mit.edu 37 20 37076848 37076848 + RNA SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr20:37076848G>A ENST00000365032.1 + 0 122 TGTCCCAGGAGCTTTCCTACA 0.562000 4 93 0 0 1 0 0 TYRO3 7301 broad.mit.edu 37 15 41864735 41864735 + Silent SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr15:41864735C>T ENST00000263798.3 + 15 2072 c.1848C>T c.(1846-1848)ctC>ctT p.L616L TYRO3_ENST00000559066.1_Silent_p.L571L NM_006293.3 NP_006284.2 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase 616 Protein kinase. integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1) 43 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) CCTTCCTGCTCGCCTCCCGGA 0.617000 7 33 0 0 1 0 0 LOC101929950 101929950 broad.mit.edu 37 17 36365087 36365087 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr17:36365087C>T ENST00000312412.4 - 4 507 c.508G>A c.(508-510)Gag>Aag p.E170K RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.E15K kidney(1)|lung(3) 4 TAGCGCACCTCTCCAGAAGGG 0.358000 3 39 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33658379 33658379 + Missense_Mutation SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr5:33658379G>A ENST00000504830.1 - 7 1435 c.1100C>T c.(1099-1101)tCa>tTa p.S367L ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S367L|ADAMTS12_ENST00000504582.1_5'UTR NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 367 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 ACACATTCCTGAAAGGTGAGA 0.522000 HNSCC(64;0.19) 51 64 0 0 1 0 0 TRPS1 7227 broad.mit.edu 37 8 116631650 116631650 + Silent SNP C C A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr8:116631650C>A ENST00000395715.3 - 3 1252 c.675G>T c.(673-675)ccG>ccT p.P225P TRPS1_ENST00000519674.1_Silent_p.P212P|TRPS1_ENST00000519076.1_Silent_p.P166P|TRPS1_ENST00000220888.5_Silent_p.P212P|TRPS1_ENST00000520276.1_Silent_p.P216P NM_001282902.1|NM_001282903.1|NM_014112.2 NP_001269831.1|NP_001269832.1|NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 212 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) ACAGAGGTGCCGGGTCTGGGT 0.463000 Langer-Giedion syndrome 4 142 0.00909568 0.00917617 1 1 0 ZFHX4 79776 broad.mit.edu 37 8 77764194 77764194 + Missense_Mutation SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr8:77764194C>G ENST00000521891.2 + 10 5485 c.5037C>G c.(5035-5037)atC>atG p.I1679M ZFHX4_ENST00000050961.6_Missense_Mutation_p.I1634M|ZFHX4_ENST00000518282.1_Missense_Mutation_p.I1653M|ZFHX4_ENST00000455469.2_Missense_Mutation_p.I1634M NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1634 Gln-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CTGATTTAATCTCTGCTCAAC 0.428000 HNSCC(33;0.089) 35 21 0 0 1 0 0 PATL1 219988 broad.mit.edu 37 11 59417023 59417023 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr11:59417023C>T ENST00000300146.9 - 14 1729 c.1645G>A c.(1645-1647)Gaa>Aaa p.E549K NM_152716.2 NP_689929.2 Q86TB9 PATL1_HUMAN protein associated with topoisomerase II homolog 1 (yeast) 549 Region C. cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA cytoplasmic mRNA processing body protein binding|RNA binding central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2) 11 GGTCGCTCTTCTTCCAGACTT 0.463000 12 21 0 0 1 0 0 PAN2 9924 broad.mit.edu 37 12 56720472 56720472 + Silent SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr12:56720472G>A ENST00000425394.2 - 7 1567 c.1191C>T c.(1189-1191)ctC>ctT p.L397L PAN2_ENST00000257931.5_Silent_p.L397L|PAN2_ENST00000440411.3_Silent_p.L397L|PAN2_ENST00000548043.1_Silent_p.L397L NM_001127460.2 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 397 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 GGACAGGGATGAGGGAAAGAG 0.587000 16 4 0 0 1 0 0 LPAR6 10161 broad.mit.edu 37 13 48985955 48985955 + Missense_Mutation SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr13:48985955G>A ENST00000378434.4 - 7 2229 c.605C>T c.(604-606)aCt>aTt p.T202I RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Missense_Mutation_p.T202I NM_005767.5 NP_005758.2 P43657 LPAR6_HUMAN lysophosphatidic acid receptor 6 202 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.0?(15)|p.?(4) NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 14 ACTAGAACAAGTTACATTTAA 0.274000 13 27 0 0 1 0 0 ATP13A2 23400 broad.mit.edu 37 1 17318752 17318752 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr1:17318752C>T ENST00000452699.1 - 18 2165 c.1976G>A c.(1975-1977)tGc>tAc p.C659Y ATP13A2_ENST00000326735.8_Missense_Mutation_p.C664Y|ATP13A2_ENST00000341676.5_Missense_Mutation_p.C659Y|RP1-37C10.3_ENST00000446261.1_RNA NM_001141973.1|NM_022089.2 NP_001135445.1|NP_071372.1 Q9NQ11 AT132_HUMAN ATPase type 13A2 664 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) CTCGGGGTTGCAGAGCCCTGC 0.672000 13 6 0 0 1 0 0 TTC19 54902 broad.mit.edu 37 17 15928487 15928487 + Splice_Site SNP T T A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr17:15928487T>A ENST00000261647.5 + 8 1300 c.e8+2 TTC19_ENST00000497842.2_Splice_Site|TTC19_ENST00000486880.2_Splice_Site NM_001271420.1|NM_017775.3 NP_001258349.1|NP_060245.3 Q6DKK2 TTC19_HUMAN tetratricopeptide repeat domain 19 cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly centrosome|midbody|mitochondrial inner membrane protein binding central_nervous_system(1)|lung(2)|skin(1)|stomach(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) CACCCACAGGTAAGGGAGGAA 0.443000 11 16 0 0 1 0 0 KIAA0586 9786 broad.mit.edu 37 14 58934551 58934551 + Nonsense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr14:58934551C>T ENST00000423743.3 + 17 2479 c.2221C>T c.(2221-2223)Cga>Tga p.R741* KIAA0586_ENST00000556134.1_Nonsense_Mutation_p.R770*|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Nonsense_Mutation_p.R838*|KIAA0586_ENST00000261244.5_Nonsense_Mutation_p.R709* NM_001244191.1|NM_001244192.1 NP_001231120.1|NP_001231121.1 E9PGW8 E9PGW8_HUMAN KIAA0586 709 endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 TCCATCATCTCGAAAAGTAGA 0.438000 49 8 0 0 1 0 0 IP6K1 9807 broad.mit.edu 37 3 49770250 49770250 + Missense_Mutation SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr3:49770250G>A ENST00000321599.4 - 4 891 c.590C>T c.(589-591)tCc>tTc p.S197F IP6K1_ENST00000395238.1_Missense_Mutation_p.S32F|IP6K1_ENST00000460540.1_Missense_Mutation_p.S32F|IP6K1_ENST00000468463.1_Missense_Mutation_p.S197F NM_001242829.1|NM_153273.3 NP_001229758.1|NP_695005.1 Q92551 IP6K1_HUMAN inositol hexakisphosphate kinase 1 197 phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2) 15 CTTGGACTCGGAGCGCATGCG 0.557000 14 21 0 0 1 0 0 RPH3A 22895 broad.mit.edu 37 12 113307585 113307585 + Missense_Mutation SNP G G T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr12:113307585G>T ENST00000389385.4 + 9 1129 c.632G>T c.(631-633)gGc>gTc p.G211V RPH3A_ENST00000420983.2_Missense_Mutation_p.G211V|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000543106.2_Missense_Mutation_p.G211V|RPH3A_ENST00000415485.3_Missense_Mutation_p.G211V|RPH3A_ENST00000551052.1_Missense_Mutation_p.G207V|RPH3A_ENST00000548866.1_Missense_Mutation_p.G162V|RPH3A_ENST00000447659.2_Missense_Mutation_p.G162V NM_001143854.1|NM_014954.3 NP_001137326.1|NP_055769.2 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog (mouse) 211 Pro-rich. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) GATAGGAGGGGCCCGGGTCAG 0.458000 51 61 9.40368e-32 1.07921e-31 1 1 0 C1orf192 257177 broad.mit.edu 37 1 161334764 161334764 + Silent SNP G G C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr1:161334764G>C ENST00000367974.1 - 5 530 c.525C>G c.(523-525)gcC>gcG p.A175A NM_001013625.2 NP_001013647.2 Q5VTH2 CA192_HUMAN chromosome 1 open reading frame 192 175 endometrium(1)|large_intestine(3)|lung(5)|prostate(1) 10 all_cancers(52;4.64e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) CTTAGGATTTGGCTGGTCTTT 0.517000 8 79 0 0 1 0 0 CELF2 10659 broad.mit.edu 37 10 11312646 11312646 + Silent SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr10:11312646C>T ENST00000379261.4 + 7 707 c.615C>T c.(613-615)atC>atT p.I205I CELF2_ENST00000450189.1_Silent_p.I212I|CELF2_ENST00000416382.2_Silent_p.I205I|CELF2_ENST00000609692.1_Silent_p.I181I|CELF2_ENST00000537122.1_Silent_p.I94I|CELF2_ENST00000354440.2_Silent_p.I181I|CELF2_ENST00000427450.1_Silent_p.I181I|CELF2_ENST00000608830.1_Silent_p.I181I|CELF2_ENST00000315874.4_Silent_p.I181I|CELF2_ENST00000542579.1_Silent_p.I212I|CELF2_ENST00000354897.3_Silent_p.I181I|CELF2_ENST00000417956.2_Silent_p.I181I|CELF2_ENST00000399850.3_Silent_p.I181I NM_001025077.2 NP_001020248.1 O95319 CELF2_HUMAN CUGBP, Elav-like family member 2 205 Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2. mRNA processing|regulation of heart contraction cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 16 CTTCACCTATCGTGGTGAAGT 0.577000 OREG0020007 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 42 27 0 0 1 0 0 ADD2 119 broad.mit.edu 37 2 70903984 70903984 + Missense_Mutation SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr2:70903984C>G ENST00000264436.4 - 13 1981 c.1537G>C c.(1537-1539)Gcg>Ccg p.A513P ADD2_ENST00000430656.1_Missense_Mutation_p.A529P|ADD2_ENST00000407644.2_Missense_Mutation_p.A513P|ADD2_ENST00000413157.2_Missense_Mutation_p.A513P|ADD2_ENST00000355733.3_Missense_Mutation_p.A513P NM_001617.3 NP_001608.1 P35612 ADDB_HUMAN adducin 2 (beta) actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 TGAGGCCCCGCTGACTTCACA 0.607000 24 39 0 0 1 0 0 SOX5 6660 broad.mit.edu 37 12 23687344 23687344 + Missense_Mutation SNP T T G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr12:23687344T>G ENST00000546136.1 - 14 2064 c.2062A>C c.(2062-2064)Agc>Cgc p.S688R SOX5_ENST00000451604.2_Missense_Mutation_p.S701R|SOX5_ENST00000381381.2_Missense_Mutation_p.S580R|SOX5_ENST00000541536.1_Missense_Mutation_p.S580R|SOX5_ENST00000537393.1_Missense_Mutation_p.S666R|SOX5_ENST00000309359.1_Missense_Mutation_p.S688R|SOX5_ENST00000545921.1_Missense_Mutation_p.S691R|SOX5_ENST00000396007.2_Missense_Mutation_p.S315R P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 701 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3) 57 GGCTCTGGGCTGCTAGACACG 0.572000 5 43 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 49 0 0 1 0 0 ANXA7 310 broad.mit.edu 37 10 75135976 75135976 + Splice_Site SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr10:75135976C>G ENST00000372921.5 - 13 1335 c.e13-1 ANXA7_ENST00000535178.1_Splice_Site NM_001156.3 NP_001147.1 P20073 ANXA7_HUMAN annexin A7 calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 26 Prostate(51;0.0119) CAAGGTCAATCTGCATAAGAA 0.328000 11 32 0 0 1 0 0 GGCT 79017 broad.mit.edu 37 7 30538494 30538494 + Silent SNP T T C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr7:30538494T>C ENST00000275428.4 - 3 482 c.348A>G c.(346-348)gaA>gaG p.E116E GGCT_ENST00000598361.1_Silent_p.E31E|GGCT_ENST00000409390.1_Intron|GGCT_ENST00000005374.6_Intron|GGCT_ENST00000409144.1_Intron|GGCT_ENST00000409436.1_Silent_p.E116E NM_024051.3 NP_076956.1 O75223 GGCT_HUMAN gamma-glutamylcyclotransferase 116 release of cytochrome c from mitochondria cytosol acyltransferase activity|gamma-glutamylcyclotransferase activity|protein homodimerization activity endometrium(2)|kidney(1)|large_intestine(2)|lung(3) 8 TTTCTTTTCCTTCTTGAGTTG 0.383000 4 126 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48669430 48669430 + Silent SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr17:48669430C>T ENST00000352832.5 + 13 3259 c.2887C>T c.(2887-2889)Ctg>Ttg p.L963L CACNA1G_ENST00000507510.2_Silent_p.L963L|CACNA1G_ENST00000515411.1_Silent_p.L963L|CACNA1G_ENST00000515765.1_Silent_p.L963L|CACNA1G_ENST00000515165.1_Silent_p.L963L|CACNA1G_ENST00000505165.1_Silent_p.L963L|CACNA1G_ENST00000513964.1_Silent_p.L963L|CACNA1G_ENST00000514717.1_Silent_p.L963L|CACNA1G_ENST00000514079.1_Silent_p.L963L|CACNA1G_ENST00000507609.1_Silent_p.L963L|CACNA1G_ENST00000513689.2_Silent_p.L963L|CACNA1G_ENST00000360761.4_Silent_p.L963L|CACNA1G_ENST00000359106.5_Silent_p.L963L|CACNA1G_ENST00000507336.1_Silent_p.L963L|CACNA1G_ENST00000502264.1_Silent_p.L963L|CACNA1G_ENST00000507896.1_Silent_p.L963L|CACNA1G_ENST00000510115.1_Silent_p.L963L|CACNA1G_ENST00000358244.5_Silent_p.L963L|CACNA1G_ENST00000512389.1_Silent_p.L963L|CACNA1G_ENST00000416767.4_Silent_p.L963L|CACNA1G_ENST00000429973.2_Silent_p.L963L|CACNA1G_ENST00000514181.1_Silent_p.L963L|CACNA1G_ENST00000503485.1_Silent_p.L963L|CACNA1G_ENST00000442258.2_Silent_p.L963L|CACNA1G_ENST00000510366.1_Silent_p.L963L|CACNA1G_ENST00000354983.4_Silent_p.L963L NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 963 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GGTCGCCATTCTGGTGGAGGG 0.582000 21 36 0 0 1 0 0 POTEE 445582 broad.mit.edu 37 2 131976417 131976417 + Missense_Mutation SNP T T G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr2:131976417T>G ENST00000356920.5 + 1 536 c.442T>G c.(442-444)Tgg>Ggg p.W148G PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.W148G NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 148 ATP binding CAGAGCTGCCTGGTGGGGTAA 0.572000 13 88 0 0 1 0 0 ALG10 84920 broad.mit.edu 37 12 34175643 34175643 + Missense_Mutation SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr12:34175643G>A ENST00000266483.2 + 1 428 c.109G>A c.(109-111)Gac>Aac p.D37N ALG10_ENST00000538927.1_Missense_Mutation_p.D37N|RP11-847H18.2_ENST00000501954.2_RNA NM_032834.3 NP_116223.3 Q5BKT4 AG10A_HUMAN ALG10, alpha-1,2-glucosyltransferase 37 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 26 Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429) Lung NSC(34;0.204)|all_lung(34;0.235) GCCCTACATGGACGAGATCTT 0.602000 91 105 0 0 1 0 0 BPIFB6 128859 broad.mit.edu 37 20 31624320 31624320 + Missense_Mutation SNP G G T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr20:31624320G>T ENST00000349552.1 + 7 647 c.647G>T c.(646-648)aGc>aTc p.S216I NM_174897.2 NP_777557.1 Q8NFQ5 BPIL3_HUMAN BPI fold containing family B, member 6 216 extracellular region lipid binding ACCACAGCCAGCTACATCCAA 0.577000 25 139 7.92952e-12 8.52798e-12 1 1 0 SEZ6L2 26470 broad.mit.edu 37 16 29883583 29883583 + Missense_Mutation SNP G G C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr16:29883583G>C ENST00000308713.5 - 16 3155 c.2628C>G c.(2626-2628)ttC>ttG p.F876L SEZ6L2_ENST00000350527.3_Missense_Mutation_p.F819L|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.F845L|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.F775L NM_001114099.2|NM_201575.3 NP_001107571.1|NP_963869.2 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 876 endoplasmic reticulum membrane|integral to membrane|plasma membrane breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCGAGAAGCCGAAAAGGGACT 0.602000 14 20 0 0 1 0 0 IL22RA2 116379 broad.mit.edu 37 6 137466873 137466873 + Missense_Mutation SNP T T C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr6:137466873T>C ENST00000296980.2 - 7 980 c.680A>G c.(679-681)gAa>gGa p.E227G IL22RA2_ENST00000349184.4_Missense_Mutation_p.E195G|IL22RA2_ENST00000339602.3_3'UTR NM_052962.2 NP_443194.1 Q969J5 I22R2_HUMAN interleukin 22 receptor, alpha 2 227 Fibronectin type-III 3. regulation of tyrosine phosphorylation of Stat3 protein extracellular space interleukin-22 receptor activity endometrium(1)|large_intestine(1)|lung(3) 5 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407) AGCTTCAATTTCAACCGCTCT 0.433000 35 40 0 0 1 0 0 NLRP1 22861 broad.mit.edu 37 17 5461801 5461801 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr17:5461801C>T ENST00000345221.3 - 4 2769 c.2215G>A c.(2215-2217)Gaa>Aaa p.E739K NLRP1_ENST00000572272.1_Missense_Mutation_p.E739K|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Missense_Mutation_p.E739K|NLRP1_ENST00000262467.5_Missense_Mutation_p.E739K|NLRP1_ENST00000577119.1_Missense_Mutation_p.E739K|NLRP1_ENST00000269280.4_Missense_Mutation_p.E739K NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 739 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding p.E739K(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) CCCATTTCTTCGAAATGGGCC 0.512000 30 68 0 0 1 0 0 AVPR2 554 broad.mit.edu 37 X 153171890 153171890 + Nonstop_Mutation SNP G G C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chrX:153171890G>C ENST00000370049.1 + 2 962 c.930G>C c.(928-930)taG>taC p.*310Y AVPR2_ENST00000337474.5_Intron|AVPR2_ENST00000358927.2_Intron P30518 V2R_HUMAN arginine vasopressin receptor 2 0 activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane vasopressin receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 26 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067) GCCGTGGCTAGGGCTGACGGG 0.662000 22 56 0 0 1 0 0 RXRA 6256 broad.mit.edu 37 9 137328351 137328351 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr9:137328351C>T ENST00000540193.1 + 9 1912 c.989C>T c.(988-990)tCc>tTc p.S330F RXRA_ENST00000481739.1_Missense_Mutation_p.S427F|RXRA_ENST00000356384.4_3'UTR P19793 RXRA_HUMAN retinoid X receptor, alpha 427 Ligand-binding. cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) GCTCTGCGCTCCATCGGGCTC 0.607000 34 29 0 0 1 0 0 HCAR3 8843 broad.mit.edu 37 12 123200589 123200589 + Silent SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr12:123200589G>A ENST00000528880.2 - 1 850 c.696C>T c.(694-696)ttC>ttT p.F232F HCAR1_ENST00000356987.2_Intron NM_006018.2 NP_006009.2 P49019 HCAR3_HUMAN hydroxycarboxylic acid receptor 3 232 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 9 Mepenzolate(DB04843)|Niacin(DB00627) CCACCATGATGAAGGTGATGG 0.552000 14 20 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39422618 39422618 + Missense_Mutation SNP A A C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr13:39422618A>C ENST00000280481.7 + 8 6406 c.6190A>C c.(6190-6192)Atc>Ctc p.I2064L FREM2_ENST00000482551.1_3'UTR NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 2064 Calx-beta 3. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CTATGTGGGCATCAGCCGTAA 0.383000 5 114 0 0 1 0 0 ACSS2 55902 broad.mit.edu 37 20 33462931 33462931 + Splice_Site SNP G G T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr20:33462931G>T ENST00000336325.4 + 1 28 c.e1+1 NM_001242393.1 NP_001229322.1 Q9NR19 ACSA_HUMAN acyl-CoA synthetase short-chain family member 2 ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process cytosol|nucleus acetate-CoA ligase activity|ATP binding|protein binding cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9) 21 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CTTCTTTGTGGTGAGTGCAGG 0.507000 16 68 2.48551e-13 2.7245e-13 1 1 0 TSIX 9383 broad.mit.edu 37 X 73048964 73048964 + RNA SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chrX:73048964G>A ENST00000604411.1 + 0 36925 XIST_ENST00000429829.1_lincRNA NR_003255.2 TGGGAAGGCTGACTTCCTTCA 0.448000 35 23 0 0 1 0 0 FRMD4A 55691 broad.mit.edu 37 10 13838504 13838504 + Missense_Mutation SNP A A T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr10:13838504A>T ENST00000357447.2 - 5 659 c.291T>A c.(289-291)ttT>ttA p.F97L FRMD4A_ENST00000378503.1_Missense_Mutation_p.F97L|FRMD4A_ENST00000358621.4_Missense_Mutation_p.F82L|FRMD4A_ENST00000342409.2_Missense_Mutation_p.F113L NM_018027.3 NP_060497.3 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 97 FERM. cytoplasm|cytoskeleton binding breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 41 ACCTGACACAAAAGTATAAAA 0.428000 5 106 0 0 1 0 0 TMPRSS6 164656 broad.mit.edu 37 22 37494578 37494578 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr22:37494578C>T ENST00000381792.2 - 3 354 c.214G>A c.(214-216)Gag>Aag p.E72K TMPRSS6_ENST00000442782.2_Missense_Mutation_p.E81K|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.E72K|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.E81K|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.E72K Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 81 angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 ACCATCACCTCCGCCTTGTAC 0.587000 52 130 0 0 1 0 0 TRPV4 59341 broad.mit.edu 37 12 110230226 110230226 + Silent SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr12:110230226G>A ENST00000418703.2 - 11 1927 c.1833C>T c.(1831-1833)ttC>ttT p.F611F TRPV4_ENST00000392719.2_Silent_p.F564F|TRPV4_ENST00000537083.1_Silent_p.F551F|TRPV4_ENST00000536838.1_Silent_p.F577F|TRPV4_ENST00000346520.2_Silent_p.F551F|TRPV4_ENST00000541794.1_Silent_p.F564F|TRPV4_ENST00000544971.1_Silent_p.F504F|TRPV4_ENST00000261740.2_Silent_p.F611F NM_001177431.1 NP_001170902.1 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, subfamily V, member 4 611 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 AAAGGTCCTTGAAGAGAATCT 0.552000 26 35 0 0 1 0 0 ROR1 4919 broad.mit.edu 37 1 64643246 64643246 + Silent SNP T T C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr1:64643246T>C ENST00000371079.1 + 9 1897 c.1522T>C c.(1522-1524)Ttg>Ctg p.L508L ROR1_ENST00000545203.1_5'UTR NM_005012.3 NP_005003.2 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 508 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 51 TATCAAGACCTTGAAAGACTA 0.468000 7 259 0 0 1 0 0 RANBP9 10048 broad.mit.edu 37 6 13697126 13697126 + Missense_Mutation SNP G G T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr6:13697126G>T ENST00000011619.3 - 2 632 c.574C>A c.(574-576)Cat>Aat p.H192N NM_005493.2 NP_005484.2 Q96S59 RANB9_HUMAN RAN binding protein 9 192 B30.2/SPRY. axon guidance|microtubule nucleation|protein complex assembly cytosol|microtubule associated complex|nucleus Ran GTPase binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 16 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.223) GTTTTGCCATGACCTGCATAG 0.393000 37 66 1.47244e-24 1.67859e-24 1 1 0 PMS2CL 441194 broad.mit.edu 37 7 6785797 6785797 + RNA SNP C C T rs141880038 by1000genomes TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr7:6785797C>T ENST00000486256.1 + 0 1941 NR_002217.1 AGAATGGCTTCGATTTTGTTA 0.398000 3 25 0 0 1 0 0 FAM65A 79567 broad.mit.edu 37 16 67575416 67575416 + Silent SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr16:67575416C>G ENST00000540839.3 + 12 1165 c.945C>G c.(943-945)ccC>ccG p.P315P FAM65A_ENST00000428437.2_Silent_p.P309P|FAM65A_ENST00000042381.4_Silent_p.P295P|FAM65A_ENST00000379312.3_Silent_p.P299P|FAM65A_ENST00000422602.2_Silent_p.P315P Q6ZS17 FA65A_HUMAN family with sequence similarity 65, member A 299 cytoplasm binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) CCGCCCTGCCCCAGGTTGTGG 0.582000 6 97 0 0 1 0 0 IGHV4-34 28395 broad.mit.edu 37 14 106829683 106829683 + RNA SNP T T C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr14:106829683T>C ENST00000390616.2 - 0 310 ACTGATATGGTGACTCGACTC 0.567000 33 246 0 0 1 0 0 ZNF774 342132 broad.mit.edu 37 15 90903561 90903561 + Silent SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr15:90903561C>T ENST00000354377.3 + 4 684 c.498C>T c.(496-498)ctC>ctT p.L166L ZNF774_ENST00000379090.5_Intron|ZNF774_ENST00000558115.1_3'UTR NM_001004309.2 NP_001004309.2 Q6NX45 ZN774_HUMAN zinc finger protein 774 166 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1) 14 Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331) BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) GTTCCTATCTCATAAGACACC 0.478000 52 32 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235973008 235973008 + Silent SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr1:235973008C>T ENST00000389794.3 - 5 1284 c.1110G>A c.(1108-1110)caG>caA p.Q370Q LYST_ENST00000389793.2_Silent_p.Q370Q|LYST_ENST00000536965.1_Silent_p.Q370Q Q99698 LYST_HUMAN lysosomal trafficking regulator 370 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) AAGGGTCAGGCTGCTTTTCTA 0.378000 6 154 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50049190 50049190 + Silent SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr20:50049190C>G ENST00000371564.3 - 9 2355 c.2136G>C c.(2134-2136)ccG>ccC p.P712P NFATC2_ENST00000609507.1_Silent_p.P493P|NFATC2_ENST00000610033.1_Silent_p.P493P|NFATC2_ENST00000396009.3_Silent_p.P712P|NFATC2_ENST00000414705.1_Silent_p.P692P|NFATC2_ENST00000609943.1_Silent_p.P692P NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 712 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) CGGCCACCATCGGGTGCTGGG 0.657000 8 33 0 0 1 0 0 CHI3L1 1116 broad.mit.edu 37 1 203154457 203154457 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr1:203154457C>T ENST00000255409.3 - 3 237 c.112G>A c.(112-114)Gat>Aat p.D38N NM_001276.2 NP_001267.2 P36222 CH3L1_HUMAN chitinase 3-like 1 (cartilage glycoprotein-39) 38 chitin catabolic process extracellular space|proteinaceous extracellular matrix cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1) 18 CAGCTCCCATCGCCTTCCCGG 0.562000 26 32 0 0 1 0 0 EPHB6 2051 broad.mit.edu 37 7 142566004 142566004 + Missense_Mutation SNP G G T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr7:142566004G>T ENST00000392957.2 + 14 2711 c.1924G>T c.(1924-1926)Gtg>Ttg p.V642L EPHB6_ENST00000442129.1_Missense_Mutation_p.V642L|EPHB6_ENST00000411471.2_Missense_Mutation_p.V365L NM_004445.3 NP_004436.3 O15197 EPHB6_HUMAN EPH receptor B6 642 extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) AGGACTCGGGGTGAAGTATTA 0.567000 16 43 2.94398e-08 3.09798e-08 1 1 0 TRIT1 54802 broad.mit.edu 37 1 40318485 40318485 + Missense_Mutation SNP G G C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr1:40318485G>C ENST00000316891.5 - 4 492 c.478C>G c.(478-480)Ctt>Gtt p.L160V TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000372818.1_Missense_Mutation_p.L160V|TRIT1_ENST00000544981.1_Intron|TRIT1_ENST00000441669.2_Missense_Mutation_p.L80V NM_017646.4 NP_060116.2 Q9H3H1 MOD5_HUMAN tRNA isopentenyltransferase 1 160 tRNA processing mitochondrion ATP binding|metal ion binding|tRNA dimethylallyltransferase activity breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1) 15 all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) TGAAGTACAAGACCATCCTCC 0.473000 6 181 0 0 1 0 0 EHD1 10938 broad.mit.edu 37 11 64645786 64645786 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr11:64645786C>T ENST00000320631.3 - 1 405 c.151G>A c.(151-153)Gag>Aag p.E51K EHD1_ENST00000359393.2_Missense_Mutation_p.E51K NM_001282445.1|NM_006795.2 NP_001269374.1|NP_006786.2 Q9H4M9 EHD1_HUMAN EH-domain containing 1 51 blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 12 TCAGCGTCCTCCAGCGCGGGC 0.632000 36 40 0 0 1 0 0 ABCA8 10351 broad.mit.edu 37 17 66873737 66873737 + Silent SNP C C A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr17:66873737C>A ENST00000269080.2 - 31 4139 c.4002G>T c.(4000-4002)ctG>ctT p.L1334L ABCA8_ENST00000586539.1_Silent_p.L1374L|ABCA8_ENST00000430352.2_Silent_p.L1374L NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 1334 ABC transporter 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) GCCTCACTGTCAGGTTGGGCC 0.602000 44 98 1.03325e-14 1.1473e-14 1 1 0 BDKRB1 623 broad.mit.edu 37 14 96730965 96730965 + Missense_Mutation SNP G G C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr14:96730965G>C ENST00000216629.6 + 3 1552 c.946G>C c.(946-948)Ggc>Cgc p.G316R RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Missense_Mutation_p.G250R NM_000710.3 NP_000701.2 P46663 BKRB1_HUMAN bradykinin receptor B1 316 elevation of cytosolic calcium ion concentration endoplasmic reticulum|integral to plasma membrane bradykinin receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1) 16 all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226) TGTCTTTGTGGGCCGGCTCTT 0.458000 6 181 0 0 1 0 0 EOGT 285203 broad.mit.edu 37 3 69057643 69057643 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr3:69057643C>T ENST00000383701.3 - 5 989 c.247G>A c.(247-249)Gag>Aag p.E83K EOGT_ENST00000540955.1_5'UTR|EOGT_ENST00000540764.1_5'UTR|EOGT_ENST00000295571.5_Missense_Mutation_p.E83K NM_001278689.1 NP_001265618.1 EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase CAGGATTTCTCATAACCCCAG 0.393000 37 72 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79318837 79318837 + Silent SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr9:79318837C>T ENST00000428286.1 - 9 7815 c.6615G>A c.(6613-6615)gaG>gaA p.E2205E PRUNE2_ENST00000376718.3_Silent_p.E2564E Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2564 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CTTCACAGGTCTCTGGCTTTG 0.408000 25 132 0 0 1 0 0 MCM3AP 8888 broad.mit.edu 37 21 47704183 47704183 + Missense_Mutation SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr21:47704183G>A ENST00000397708.1 - 2 1272 c.1018C>T c.(1018-1020)Cgg>Tgg p.R340W MCM3AP_ENST00000291688.1_Missense_Mutation_p.R340W O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 340 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) TGTATCGTCCGACCAAATAAA 0.517000 5 89 0 0 1 0 0 WWC3 55841 broad.mit.edu 37 X 10098144 10098144 + Nonsense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chrX:10098144C>T ENST00000380861.4 + 18 2972 c.2581C>T c.(2581-2583)Cag>Tag p.Q861* WWC3_ENST00000454666.1_Nonsense_Mutation_p.Q861* NM_015691.3 NP_056506.2 Q9ULE0 WWC3_HUMAN WWC family member 3 861 NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 52 CGAGAAATTTCAGCCCTCGCC 0.552000 10 52 0 0 1 0 0 NDST3 9348 broad.mit.edu 37 4 118975862 118975862 + Missense_Mutation SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr4:118975862G>A ENST00000296499.5 + 2 1200 c.797G>A c.(796-798)gGa>gAa p.G266E NDST3_ENST00000433996.2_Missense_Mutation_p.G266E NM_004784.2 NP_004775.1 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 266 Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 CTTCATGATGGAATTCAAAGG 0.413000 60 21 0 0 1 0 0 BDP1 55814 broad.mit.edu 37 5 70806805 70806805 + Missense_Mutation SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr5:70806805G>A ENST00000358731.4 + 17 4149 c.3886G>A c.(3886-3888)Gaa>Aaa p.E1296K BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 1296 9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) GAGAGGATCTGAAGAGATCTG 0.408000 22 63 0 0 1 0 0 ASIC3 9311 broad.mit.edu 37 7 150749734 150749734 + Missense_Mutation SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr7:150749734C>G ENST00000357922.4 + 10 2126 c.1532C>G c.(1531-1533)gCt>gGt p.A511G ASIC3_ENST00000349064.5_Missense_Mutation_p.L531V|ASIC3_ENST00000297512.8_Missense_Mutation_p.S537R NM_020322.3 NP_064718.1 Q9UHC3 ACCN3_HUMAN acid-sensing (proton-gated) ion channel 3 285 sensory perception|signal transduction cytoplasm|integral to plasma membrane ligand-gated sodium channel activity TGTCACACAGCTCTAGACCTG 0.592000 5 138 0 0 1 0 0 TYRO3 7301 broad.mit.edu 37 15 41862876 41862876 + Missense_Mutation SNP C C A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr15:41862876C>A ENST00000263798.3 + 12 1782 c.1558C>A c.(1558-1560)Ctg>Atg p.L520M TYRO3_ENST00000559066.1_Missense_Mutation_p.L475M NM_006293.3 NP_006284.2 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase 520 Protein kinase. integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1) 43 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) GCAGTTCACCCTGGGCCGGAT 0.547000 12 45 5.50884e-06 5.72651e-06 1 1 0 NSD1 64324 broad.mit.edu 37 5 176562585 176562585 + Missense_Mutation SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr5:176562585G>A ENST00000439151.2 + 2 526 c.481G>A c.(481-483)Gat>Aat p.D161N NSD1_ENST00000354179.4_Intron|NSD1_ENST00000347982.4_Intron|NSD1_ENST00000361032.4_Missense_Mutation_p.D161N|NSD1_ENST00000511258.1_Intron NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 161 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) TTGTGTGGACGATGCAGATGT 0.433000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 18 30 0 0 1 0 0 RPGR 6103 broad.mit.edu 37 X 38128983 38128983 + Missense_Mutation SNP T T G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chrX:38128983T>G ENST00000339363.3 - 18 3126 c.2959A>C c.(2959-2961)Aaa>Caa p.K987Q RPGR_ENST00000318842.7_Missense_Mutation_p.K782Q|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000338898.3_3'UTR|RPGR_ENST00000309513.3_Missense_Mutation_p.K720Q Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator 987 intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 25 TTATCACTTTTTAAAATGATC 0.363000 52 29 0 0 1 0 0 TERF2 7014 broad.mit.edu 37 16 69400865 69400865 + Silent SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr16:69400865C>T ENST00000254942.3 - 7 1201 c.1185G>A c.(1183-1185)aaG>aaA p.K395K TERF2_ENST00000603068.1_Silent_p.K353K NM_005652.3 NP_005643.2 Q15554 TERF2_HUMAN telomeric repeat binding factor 2 353 age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation Golgi apparatus|nuclear telomere cap complex|nucleoplasm double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity NS(2)|breast(1)|large_intestine(3)|lung(1) 7 Ovarian(137;0.101) TGCGCTTGTTCTTGGGCTGCA 0.572000 24 5 0 0 1 0 0 CEP63 80254 broad.mit.edu 37 3 134278072 134278072 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr3:134278072C>T ENST00000337090.3 + 14 1927 c.1754C>T c.(1753-1755)gCg>gTg p.A585V CEP63_ENST00000354446.3_Intron|CEP63_ENST00000383229.3_Intron|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.A585V|CEP63_ENST00000606977.1_Missense_Mutation_p.A585V Q96MT8 CEP63_HUMAN centrosomal protein 63kDa 585 cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly centrosome|cytosol|spindle pole protein binding kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 AGAGGACAAGCGTCGGATAGT 0.478000 64 75 0 0 1 0 0 PPP2R3B 28227 broad.mit.edu 37 X 301594 301594 + Silent SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chrX:301594C>T ENST00000390665.3 - 10 1275 c.1257G>A c.(1255-1257)gaG>gaA p.E419E NM_013239.4 NP_037371.2 Q9Y5P8 P2R3B_HUMAN protein phosphatase 2, regulatory subunit B'', beta 419 EF-hand. cell cycle arrest|protein dephosphorylation nucleus|protein phosphatase type 2A complex calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity endometrium(5)|lung(5)|skin(1) 11 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TTCGGCACTGCTCCTCGTAGA 0.632000 4 55 0 0 1 0 0 AKAP1 8165 broad.mit.edu 37 17 55189858 55189858 + Missense_Mutation SNP A A T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr17:55189858A>T ENST00000337714.3 + 5 2215 c.1982A>T c.(1981-1983)cAa>cTa p.Q661L AKAP1_ENST00000572557.1_Missense_Mutation_p.Q661L|AKAP1_ENST00000571629.1_Missense_Mutation_p.Q661L|AKAP1_ENST00000539273.1_Missense_Mutation_p.Q661L NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 661 KH. blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) TTAGGCTCTCAACATCATGTA 0.498000 4 121 0 0 1 0 0 BAZ2B 29994 broad.mit.edu 37 2 160310174 160310174 + Missense_Mutation SNP A A T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr2:160310174A>T ENST00000392783.2 - 4 779 c.284T>A c.(283-285)cTt>cAt p.L95H BAZ2B_ENST00000355831.2_Missense_Mutation_p.L95H|BAZ2B_ENST00000343439.5_Missense_Mutation_p.L95H|BAZ2B_ENST00000392782.1_Missense_Mutation_p.L95H NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 95 L -> G (in Ref. 6; AAH12576). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 GGGTGTACCAAGTGTCCCCAA 0.502000 9 27 0 0 1 0 0 TYRO3 7301 broad.mit.edu 37 15 41862487 41862487 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr15:41862487C>T ENST00000263798.3 + 11 1656 c.1432C>T c.(1432-1434)Cgg>Tgg p.R478W TYRO3_ENST00000559066.1_Missense_Mutation_p.R433W NM_006293.3 NP_006284.2 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase 478 integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1) 43 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) CGTTCACTTCCGGGCAGCCCG 0.577000 11 113 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108705730 108705730 + Missense_Mutation SNP G G T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr3:108705730G>T ENST00000232603.5 - 22 2336 c.2254C>A c.(2254-2256)Caa>Aaa p.Q752K MORC1_ENST00000483760.1_Missense_Mutation_p.Q731K NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 752 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TTTTTACCTTGGTTTAAAAGA 0.279000 24 64 3.7963e-18 4.25684e-18 1 1 0 CORO1A 11151 broad.mit.edu 37 16 30197968 30197968 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr16:30197968C>T ENST00000219150.5 + 3 553 c.248C>T c.(247-249)cCt>cTt p.P83L CORO1A_ENST00000570045.1_Missense_Mutation_p.P83L|CORO1A_ENST00000565497.1_Missense_Mutation_p.P83L NM_001193333.2|NM_007074.3 NP_001180262.1|NP_009005.1 P31146 COR1A_HUMAN coronin, actin binding protein, 1A 83 cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 9 CACACAGCCCCTGTGCTAGAC 0.607000 6 13 0 0 1 0 0 HLA-DQB1 3119 broad.mit.edu 37 6 32630009 32630009 + Silent SNP G G T rs41558012 TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr6:32630009G>T ENST00000399084.1 - 4 574 c.396C>A c.(394-396)acC>acA p.T132T HLA-DQB1_ENST00000399079.3_Silent_p.T132T|HLA-DQB1_ENST00000434651.2_Silent_p.T132T|HLA-DQB1_ENST00000374943.4_Silent_p.T132T|HLA-DQB1_ENST00000399082.3_Silent_p.T42T|XXbac-BPG254F23.6_ENST00000443574.1_RNA P01920 DQB1_HUMAN major histocompatibility complex, class II, DQ beta 1 132 Beta-2.|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity breast(1)|large_intestine(1)|lung(1)|pancreas(1) 4 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ATGGGGAGATGGTCACTGTGG 0.542000 T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia 13 72 0.000308642 0.000316984 1 1 0 NR1H4 9971 broad.mit.edu 37 12 100957037 100957037 + Missense_Mutation SNP T T C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr12:100957037T>C ENST00000548884.1 + 11 1730 c.1189T>C c.(1189-1191)Tac>Cac p.Y397H NR1H4_ENST00000188403.7_Missense_Mutation_p.Y407H|NR1H4_ENST00000551379.1_Missense_Mutation_p.Y411H|NR1H4_ENST00000549996.1_Missense_Mutation_p.Y350H|NR1H4_ENST00000392986.3_Missense_Mutation_p.Y401H NM_001206977.1|NM_001206979.1|NM_005123.3 NP_001193906.1|NP_001193908.1|NP_005114.1 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 411 Ligand-binding. bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 44 AGATAGACAATACATAAAGGA 0.328000 27 30 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178948160 178948160 + Missense_Mutation SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr3:178948160G>A ENST00000263967.3 + 20 3089 c.2932G>A c.(2932-2934)Gag>Aag p.E978K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 978 PI3K/PI4K. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AAGAGAATTTGAGAGGTGAGC 0.323000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 66 37 0 0 1 0 0 ACTB 60 broad.mit.edu 37 7 5567501 5567501 + Nonsense_Mutation SNP T T A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr7:5567501T>A ENST00000331789.5 - 6 1197 c.1006A>T c.(1006-1008)Aag>Tag p.K336* ACTB_ENST00000464611.1_5'UTR NM_001101.3 NP_001092.1 P60709 ACTB_HUMAN actin, beta 336 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2) 8 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) ACGGAGTACTTGCGCTCAGGA 0.617000 16 94 0 0 1 0 0 NUP214 8021 broad.mit.edu 37 9 134020059 134020059 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr9:134020059C>T ENST00000359428.5 + 12 1831 c.1687C>T c.(1687-1689)Cca>Tca p.P563S RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.P563S|RP11-544A12.4_ENST00000588378.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.P563S|RP11-544A12.4_ENST00000587264.1_RNA P35658 NU214_HUMAN nucleoporin 214kDa 563 11 X 5 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) CACACCAGTGCCAAGTGTGTC 0.502000 T """DEK, SET, ABL1""" """AML, T-ALL""" 5 34 0 0 1 0 0 MYH9 4627 broad.mit.edu 37 22 36681757 36681757 + Nonsense_Mutation SNP C C A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr22:36681757C>A ENST00000216181.5 - 37 5451 c.5221G>T c.(5221-5223)Gag>Tag p.E1741* MYH9_ENST00000475726.1_5'UTR NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1741 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 TTGCCCTgctcctcctccagc 0.672000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 10 8 0.000442599 0.000453201 1 1 0 APOB 338 broad.mit.edu 37 2 21239346 21239346 + Missense_Mutation SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr2:21239346C>G ENST00000233242.1 - 21 3424 c.3297G>C c.(3295-3297)aaG>aaC p.K1099N NM_000384.2 NP_000375 P04114 APOB_HUMAN apolipoprotein B 1099 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CAGTAATTTTCTTGTTCTGAA 0.478000 44 56 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6219611 6219611 + Missense_Mutation SNP T T G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr12:6219611T>G ENST00000261405.5 - 5 715 c.461A>C c.(460-462)tAc>tCc p.Y154S VWF_ENST00000572068.1_Missense_Mutation_p.Y191S NM_000552.3 NP_000543 P04275 VWF_HUMAN von Willebrand factor 154 VWFD 1. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) CTTGTTGAAGTATCTGTCTGA 0.493000 58 78 0 0 1 0 0 RBFOX1 54715 broad.mit.edu 37 16 7760716 7760716 + Missense_Mutation SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr16:7760716G>A ENST00000340209.4 + 13 1475 c.1178G>A c.(1177-1179)cGa>cAa p.R393Q RBFOX1_ENST00000436368.2_Missense_Mutation_p.R383Q|RBFOX1_ENST00000550418.1_Missense_Mutation_p.R388Q|RBFOX1_ENST00000553186.1_Missense_Mutation_p.R361Q|RBFOX1_ENST00000355637.4_3'UTR|RBFOX1_ENST00000547372.1_3'UTR|RBFOX1_ENST00000552089.1_3'UTR|RBFOX1_ENST00000311745.5_Missense_Mutation_p.R409Q|RBFOX1_ENST00000547338.1_Missense_Mutation_p.R388Q Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 388 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 AGTATATACCGAGGGGGATAC 0.438000 8 70 0 0 1 0 0 KIAA1244 57221 broad.mit.edu 37 6 138566669 138566669 + Silent SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr6:138566669C>G ENST00000251691.4 + 8 772 c.606C>G c.(604-606)ctC>ctG p.L202L NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 202 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) TAGAGTCCCTCTGTGATGATG 0.527000 6 11 0 0 1 0 0 CACNG6 59285 broad.mit.edu 37 19 54496159 54496159 + Missense_Mutation SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr19:54496159G>A ENST00000252729.2 + 1 618 c.28G>A c.(28-30)Gag>Aag p.E10K CACNG6_ENST00000346968.2_Missense_Mutation_p.E10K|CACNG6_ENST00000352529.1_Missense_Mutation_p.E10K NM_145814.1 NP_665813.1 Q9BXT2 CCG6_HUMAN calcium channel, voltage-dependent, gamma subunit 6 10 voltage-gated calcium channel complex voltage-gated calcium channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.168) CTTCCTGCAAGAGGAGAAccg 0.736000 6 23 0 0 1 0 0 ZNF624 57547 broad.mit.edu 37 17 16527368 16527368 + Missense_Mutation SNP A A G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr17:16527368A>G ENST00000311331.7 - 6 923 c.832T>C c.(832-834)Tgt>Cgt p.C278R NM_020787.3 NP_065838.2 Q9P2J8 ZN624_HUMAN zinc finger protein 624 278 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1) 26 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) CATGTACTACATTTGTAGGGT 0.348000 4 88 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52321348 52321348 + Nonsense_Mutation SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr8:52321348G>A ENST00000356297.4 - 17 2936 c.2836C>T c.(2836-2838)Cga>Tga p.R946* PXDNL_ENST00000543296.1_Nonsense_Mutation_p.R946* NM_144651.4 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 946 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TGCTCCTGTCGCGCGCACTCG 0.647000 4 11 0 0 1 0 0 MST1R 4486 broad.mit.edu 37 3 49935619 49935619 + Missense_Mutation SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr3:49935619C>G ENST00000296474.3 - 5 1772 c.1745G>C c.(1744-1746)aGg>aCg p.R582T MST1R_ENST00000344206.4_Missense_Mutation_p.R582T NM_002447.2 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 582 IPT/TIG 1. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) TGTACTGCCCCTTAGAGGTCC 0.587000 38 41 0 0 1 0 0 IGHM 3507 broad.mit.edu 37 14 106321875 106321875 + RNA SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr14:106321875C>T ENST00000390559.2 - 0 358 GAAGCCGTCGCGGGGTGGGAC 0.667000 36 19 0 0 1 0 0 WNK2 65268 broad.mit.edu 37 9 95947796 95947796 + Silent SNP C C A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr9:95947796C>A ENST00000297954.4 + 1 585 c.585C>A c.(583-585)ctC>ctA p.L195L WNK2_ENST00000349097.3_5'UTR|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395477.2_Silent_p.L195L|WNK2_ENST00000395475.2_Silent_p.L181L|WNK2_ENST00000427277.2_5'UTR NM_001282394.1 NP_001269323.1 Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 195 Protein kinase. intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 GCCGCTTCCTCAAGTTCGACA 0.667000 7 9 2.7689e-08 2.92272e-08 1 1 0 GPR116 221395 broad.mit.edu 37 6 46836738 46836738 + Missense_Mutation SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr6:46836738C>G ENST00000283296.7 - 12 1791 c.1503G>C c.(1501-1503)gaG>gaC p.E501D GPR116_ENST00000265417.7_Missense_Mutation_p.E501D|GPR116_ENST00000362015.4_Missense_Mutation_p.E501D|GPR116_ENST00000456426.2_Missense_Mutation_p.E359D|GPR116_ENST00000545669.1_5'UTR NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 501 Ig-like 3. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) TCCAATAAACCTCATCATAGT 0.373000 15 24 0 0 1 0 0 NR1D2 9975 broad.mit.edu 37 3 24001167 24001167 + Missense_Mutation SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr3:24001167C>G ENST00000312521.4 + 4 697 c.378C>G c.(376-378)ttC>ttG p.F126L NR1D2_ENST00000492552.1_3'UTR NM_001145425.1|NM_005126.4 NP_001138897.1|NP_005117 Q14995 NR1D2_HUMAN nuclear receptor subfamily 1, group D, member 2 126 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 22 CTTAGGGTTTCTTTCGGAGAA 0.353000 42 32 0 0 1 0 0 ANKHD1 54882 broad.mit.edu 37 5 139893047 139893047 + Missense_Mutation SNP G G C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr5:139893047G>C ENST00000297183.6 + 24 4424 c.4300G>C c.(4300-4302)Gaa>Caa p.E1434Q ANKHD1_ENST00000360839.2_Missense_Mutation_p.E1434Q|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.E1434Q NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTTTTAAAGGAACTTGATCT 0.428000 20 29 0 0 1 0 0 PDLIM5 10611 broad.mit.edu 37 4 95506869 95506869 + Silent SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr4:95506869G>A ENST00000317968.4 + 6 1000 c.864G>A c.(862-864)caG>caA p.Q288Q PDLIM5_ENST00000542407.1_Silent_p.Q166Q|PDLIM5_ENST00000508216.1_Silent_p.Q185Q|PDLIM5_ENST00000538141.1_Silent_p.Q165Q|PDLIM5_ENST00000380180.3_Silent_p.Q185Q|PDLIM5_ENST00000514743.1_Silent_p.Q185Q|PDLIM5_ENST00000318007.5_Silent_p.Q165Q|PDLIM5_ENST00000437932.1_Silent_p.Q179Q|PDLIM5_ENST00000450793.1_Silent_p.Q185Q|PDLIM5_ENST00000380176.3_3'UTR NM_001256428.1|NM_006457.4 NP_001243357.1|NP_006448 Q96HC4 PDLI5_HUMAN PDZ and LIM domain 5 288 regulation of dendritic spine morphogenesis|regulation of synaptogenesis actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome actin binding|actinin binding|protein kinase C binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.84e-09) TCCTTGCCCAGATCACTGGGA 0.463000 20 36 0 0 1 0 0 OR52A5 390054 broad.mit.edu 37 11 5153584 5153584 + Missense_Mutation SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr11:5153584C>G ENST00000307388.1 - 1 288 c.289G>C c.(289-291)Gat>Cat p.D97H NM_001005160.2 NP_001005160.1 Q9H2C5 O52A5_HUMAN olfactory receptor, family 52, subfamily A, member 5 97 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3) 35 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) AGACAGGCATCAAAAGAAATC 0.438000 18 6 0 0 1 0 0 ADCY5 111 broad.mit.edu 37 3 123046561 123046561 + Missense_Mutation SNP G G C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr3:123046561G>C ENST00000462833.1 - 7 3063 c.1851C>G c.(1849-1851)gaC>gaG p.D617E ADCY5_ENST00000491190.1_Missense_Mutation_p.D250E|ADCY5_ENST00000309879.5_Missense_Mutation_p.D267E NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 617 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) CCACCTCGTAGTCCCCATTCA 0.577000 11 20 0 0 1 0 0 GPR141 353345 broad.mit.edu 37 7 37780279 37780279 + Missense_Mutation SNP T T G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr7:37780279T>G ENST00000447769.1 + 4 573 c.284T>G c.(283-285)cTg>cGg p.L95R GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.L95R|EPDR1_ENST00000476620.1_Intron Q7Z602 GP141_HUMAN G protein-coupled receptor 141 95 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 AGTGCCATGCTGCACATCCAC 0.463000 12 52 0 0 1 0 0 PLXNB3 5365 broad.mit.edu 37 X 153036250 153036250 + Missense_Mutation SNP A A T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chrX:153036250A>T ENST00000538966.1 + 12 2388 c.2117A>T c.(2116-2118)cAg>cTg p.Q706L PLXNB3_ENST00000538776.1_Missense_Mutation_p.Q336L|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Missense_Mutation_p.Q293L|PLXNB3_ENST00000361971.5_Missense_Mutation_p.Q683L NM_001163257.1 NP_001156729.1 Q9ULL4 PLXB3_HUMAN plexin B3 683 axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) GCTTGCCCACAGGTCGAAGGC 0.632000 5 32 0 0 1 0 0 HAUS1 115106 broad.mit.edu 37 18 43698276 43698276 + Missense_Mutation SNP T T C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr18:43698276T>C ENST00000282058.6 + 3 415 c.335T>C c.(334-336)cTa>cCa p.L112P HAUS1_ENST00000585518.1_Intron|HAUS1_ENST00000588704.1_3'UTR NM_138443.3 NP_612452.1 Q96CS2 HAUS1_HUMAN HAUS augmin-like complex, subunit 1 112 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 7 GATACCTCGCTAGCTAGGTAA 0.398000 5 108 0 0 1 0 0 RADIL 55698 broad.mit.edu 37 7 4841585 4841585 + Silent SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr7:4841585C>T ENST00000399583.3 - 12 2728 c.2541G>A c.(2539-2541)ccG>ccA p.P847P RADIL_ENST00000538469.1_Silent_p.P607P|RADIL_ENST00000536091.1_3'UTR NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 847 Pro-rich. cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) GGGGGCAGCTCGGGGCCTCCA 0.697000 6 2 0 0 1 0 0 SPTBN2 6712 broad.mit.edu 37 11 66472475 66472475 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr11:66472475C>T ENST00000533211.1 - 15 2603 c.2272G>A c.(2272-2274)Gac>Aac p.D758N SPTBN2_ENST00000529997.1_Missense_Mutation_p.D758N|SPTBN2_ENST00000309996.2_Missense_Mutation_p.D758N O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 758 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 GCCTCCATGTCGTTTGCATCG 0.682000 20 26 0 0 1 0 0 C12orf40 283461 broad.mit.edu 37 12 40114607 40114607 + Missense_Mutation SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr12:40114607C>G ENST00000324616.5 + 13 1667 c.1513C>G c.(1513-1515)Caa>Gaa p.Q505E NM_001031748.2 NP_001026918.2 Q86WS4 CL040_HUMAN chromosome 12 open reading frame 40 505 breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2) 38 AGATGAAGATCAAATATCACA 0.279000 7 48 0 0 1 0 0 LCN9 392399 broad.mit.edu 37 9 138557167 138557167 + Silent SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr9:138557167G>A ENST00000277526.3 + 4 384 c.384G>A c.(382-384)agG>agA p.R128R LCN9_ENST00000430290.2_3'UTR NM_001001676.1 NP_001001676.1 Q8WX39 LCN9_HUMAN lipocalin 9 128 extracellular region pheromone binding|transporter activity kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1) 6 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05) AGAACTTCAGGAACGGGACCG 0.627000 4 12 0 0 1 0 0 CLCA4 22802 broad.mit.edu 37 1 87043674 87043674 + Missense_Mutation SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr1:87043674C>G ENST00000370563.3 + 12 2083 c.2041C>G c.(2041-2043)Cat>Gat p.H681D RP4-651E10.4_ENST00000456587.1_RNA NM_012128.3 NP_036260.2 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 681 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) AGTTCGGGCTCATGGAGGAGC 0.438000 12 32 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 77756562 77756562 + Missense_Mutation SNP G G C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr7:77756562G>C ENST00000354212.4 - 19 3628 c.3375C>G c.(3373-3375)caC>caG p.H1125Q MAGI2_ENST00000419488.1_Missense_Mutation_p.H1111Q|MAGI2_ENST00000522391.1_Missense_Mutation_p.H1125Q NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 1125 cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TGTCGGGGGAGTGCTGCCTGT 0.642000 59 61 0 0 1 0 0 ATG5 9474 broad.mit.edu 37 6 106756353 106756353 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr6:106756353C>T ENST00000369076.3 - 3 445 c.122G>A c.(121-123)aGa>aAa p.R41K ATG5_ENST00000360666.4_Intron|ATG5_ENST00000343245.3_Missense_Mutation_p.R41K|ATG5_ENST00000369070.1_Intron NM_004849.2 NP_004840.1 Q9H1Y0 ATG5_HUMAN autophagy related 5 41 apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification autophagic vacuole|pre-autophagosomal structure membrane protein binding endometrium(1)|large_intestine(5)|lung(1)|prostate(1) 8 Breast(9;0.0296) all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216) BRCA - Breast invasive adenocarcinoma(8;0.00802) OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18) ATAACTTACTCTTGGCAAAAG 0.284000 11 5 0 0 1 0 0 PHEX 5251 broad.mit.edu 37 X 22196454 22196454 + Missense_Mutation SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chrX:22196454C>G ENST00000379374.4 + 14 2112 c.1547C>G c.(1546-1548)tCt>tGt p.S516C PHEX_ENST00000418858.3_Missense_Mutation_p.S219C|PHEX_ENST00000537599.1_Missense_Mutation_p.S516C|PHEX_ENST00000535894.1_Missense_Mutation_p.S419C NM_000444.4 NP_000435.3 P78562 PHEX_HUMAN phosphate regulating endopeptidase homolog, X-linked 516 biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 42 TTAGCACAGTCTGATTTCTTC 0.358000 15 37 0 0 1 0 0 MEGF10 84466 broad.mit.edu 37 5 126705684 126705684 + Silent SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr5:126705684C>T ENST00000274473.6 + 6 669 c.402C>T c.(400-402)aaC>aaT p.N134N MEGF10_ENST00000508365.1_Silent_p.N134N|MEGF10_ENST00000503335.2_Silent_p.N134N|MEGF10_ENST00000418761.2_Silent_p.N134N NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 134 EGF-like 1.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) GAGGGACCAACTGCTCCAGTG 0.527000 15 41 0 0 1 0 0 BRF1 2972 broad.mit.edu 37 14 105677537 105677537 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr14:105677537C>T ENST00000546474.1 - 17 16877 c.1918G>A c.(1918-1920)Gag>Aag p.E640K BRF1_ENST00000446501.2_Missense_Mutation_p.E402K|BRF1_ENST00000547530.1_Missense_Mutation_p.E166K|BRF1_ENST00000440513.3_Missense_Mutation_p.E547K|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000392557.4_Missense_Mutation_p.E436K|BRF1_ENST00000379937.2_Missense_Mutation_p.E613K|BRF1_ENST00000327359.3_Missense_Mutation_p.E525K|BRF1_ENST00000379932.4_Intron NM_001242787.1|NM_001519.3 NP_001229716.1|NP_001510.2 Q92994 TF3B_HUMAN BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit 640 positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription transcription factor TFIIIB complex translation initiation factor activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221) Epithelial(152;0.14) TCAGCCTCCTCGTCGGCGTGG 0.687000 71 27 0 0 1 0 0 DSG2 1829 broad.mit.edu 37 18 29111175 29111175 + Nonsense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr18:29111175C>T ENST00000261590.8 + 9 1449 c.1240C>T c.(1240-1242)Caa>Taa p.Q414* NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 414 Cadherin 4. cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) TGGAAATTTTCAAGCTTTTGA 0.358000 44 49 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179578666 179578666 + Missense_Mutation SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr2:179578666G>A ENST00000589042.1 - 92 26943 c.26719C>T c.(26719-26721)Cct>Tct p.P8907S TTN_ENST00000591111.1_Missense_Mutation_p.P8590S|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P7663S|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8590 Ig-like 72. 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) TTGCCAACAGGGTTCTGCACC 0.408000 18 13 0 0 1 0 0 TMEM120B 144404 broad.mit.edu 37 12 122199597 122199597 + Nonsense_Mutation SNP C C A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr12:122199597C>A ENST00000449592.2 + 6 605 c.504C>A c.(502-504)taC>taA p.Y168* TMEM120B_ENST00000540377.1_5'UTR NM_001080825.2 NP_001074294.2 A0PK00 T120B_HUMAN transmembrane protein 120B 168 integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6) 11 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238) TGTGGTATTACTGCACCCTGA 0.567000 17 140 3.51602e-12 3.80531e-12 1 1 0 PRRC2B 84726 broad.mit.edu 37 9 134346361 134346361 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr9:134346361C>T ENST00000357304.4 + 13 2153 c.2098C>T c.(2098-2100)Cat>Tat p.H700Y PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Missense_Mutation_p.H700Y|PRRC2B_ENST00000405995.1_Missense_Mutation_p.H700Y NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 700 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 CTCCGCCCTGCATCCCTCAGG 0.572000 9 19 0 0 1 0 0 NBEAL1 65065 broad.mit.edu 37 2 204064152 204064152 + Missense_Mutation SNP A A T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr2:204064152A>T ENST00000449802.1 + 48 7466 c.7133A>T c.(7132-7134)cAa>cTa p.Q2378L NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 2378 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 ATCAAGGATCAAACTGTGACA 0.303000 7 111 0 0 1 0 0 SNRPB 6628 broad.mit.edu 37 20 2444495 2444495 + Silent SNP G G A rs112240907 TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr20:2444495G>A ENST00000339610.6 - 5 536 c.81C>T c.(79-81)atC>atT p.I27I SNRPB_ENST00000381342.2_Silent_p.I106I|SNRPB_ENST00000438552.2_Silent_p.I106I P14678 RSMB_HUMAN small nuclear ribonucleoprotein polypeptides B and B1 106 histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP protein binding|RNA binding kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 10 CAGCCCTGCCGATCCCTGGGC 0.592000 44 57 0 0 1 0 0 PDXDC2P 283970 broad.mit.edu 37 16 70065826 70065826 + RNA SNP T T C rs3169319 by1000genomes TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr16:70065826T>C ENST00000531894.1 - 0 796 NR_003610.1 p.M209V(4) GATCCAAACATAGTGTTACAG 0.453000 3 52 0 0 1 0 0 CHGB 1114 broad.mit.edu 37 20 5904338 5904338 + Silent SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr20:5904338G>A ENST00000378961.4 + 4 1752 c.1548G>A c.(1546-1548)aaG>aaA p.K516K NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 516 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 AAAAGAGGAAGAGATTAGGGG 0.463000 22 24 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46246374 46246374 + Nonsense_Mutation SNP G G T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr12:46246374G>T ENST00000334344.6 + 15 4640 c.4468G>T c.(4468-4470)Gga>Tga p.G1490* ARID2_ENST00000444670.1_Nonsense_Mutation_p.G1100*|ARID2_ENST00000457135.1_Nonsense_Mutation_p.G98*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.G1341*|ARID2_ENST00000479608.1_3'UTR NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1490 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TCCCGACTCAGGATCAAAAGT 0.463000 """N, S, F""" hepatocellular carcinoma 38 41 1.66425e-11 1.78424e-11 1 1 0 JTB 10899 broad.mit.edu 37 1 153949716 153949716 + Missense_Mutation SNP C C A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr1:153949716C>A ENST00000271843.4 - 1 448 c.13G>T c.(13-15)Gcc>Tcc p.A5S JTB_ENST00000368589.1_5'UTR|JTB_ENST00000471173.1_5'UTR|JTB_ENST00000356648.1_5'UTR NM_006694.3 NP_006685.1 O76095 JTB_HUMAN jumping translocation breakpoint 5 apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle protein kinase binding endometrium(1)|kidney(1)|large_intestine(2)|lung(6) 10 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GGCCTCCCGGCACCCGCAAGC 0.637000 30 34 3.73148e-12 4.02576e-12 1 1 0 MYO1E 4643 broad.mit.edu 37 15 59445944 59445944 + Silent SNP G G T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr15:59445944G>T ENST00000288235.4 - 26 3324 c.2925C>A c.(2923-2925)ccC>ccA p.P975P NM_004998.3 NP_004989.2 Q12965 MYO1E_HUMAN myosin IE 975 actin filament-based movement myosin complex actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1) 33 all cancers(107;0.207) CAGGAGCATGGGGATATGGCA 0.522000 11 48 2.62699e-14 2.88884e-14 1 1 0 MSH6 2956 broad.mit.edu 37 2 48026581 48026581 + Missense_Mutation SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr2:48026581G>A ENST00000234420.5 + 4 1611 c.1459G>A c.(1459-1461)Gag>Aag p.E487K MSH6_ENST00000540021.1_Missense_Mutation_p.E357K|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.E185K NM_000179.2 NP_000170.1 P52701 MSH6_HUMAN mutS homolog 6 determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding p.0?(2) breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 229 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GGAACAGACTGAGACTCCAGA 0.473000 """Mis, N, F, S""" colorectal """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 12 32 0 0 1 0 0 FURIN 5045 broad.mit.edu 37 15 91423985 91423985 + Missense_Mutation SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr15:91423985G>A ENST00000268171.3 + 14 1900 c.1621G>A c.(1621-1623)Gag>Aag p.E541K NM_002569.2 NP_002560.1 P09958 FURIN_HUMAN furin (paired basic amino acid cleaving enzyme) 541 cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 36 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) TTCCTGGGATGAGGATCCCTC 0.572000 10 12 0 0 1 0 0 SH3KBP1 30011 broad.mit.edu 37 X 19764438 19764438 + Missense_Mutation SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chrX:19764438C>G ENST00000397821.3 - 3 574 c.284G>C c.(283-285)aGa>aCa p.R95T SH3KBP1_ENST00000379698.4_Missense_Mutation_p.R58T|SH3KBP1_ENST00000379697.3_Missense_Mutation_p.R95T NM_031892.2 NP_114098.1 Q96B97 SH3K1_HUMAN SH3-domain kinase binding protein 1 95 apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4) 29 TTCCATACCTCTCTTATTGGT 0.418000 54 49 0 0 1 0 0 ZNF112 7665 broad.mit.edu 37 19 44832626 44832626 + Missense_Mutation SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr19:44832626G>A ENST00000354340.4 - 4 1735 c.1684C>T c.(1684-1686)Ctt>Ttt p.L562F ZNF112_ENST00000536500.1_Missense_Mutation_p.L585F|ZNF112_ENST00000337401.4_Missense_Mutation_p.L568F NM_013380.3 NP_037512.3 zinc finger protein 112 TGGGCTTGAAGATATGAACTC 0.428000 44 140 0 0 1 0 0 SRSF1 6426 broad.mit.edu 37 17 56083887 56083887 + Splice_Site SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr17:56083887C>G ENST00000582730.2 - 2 319 c.196G>C c.(196-198)Gac>Cac p.D66H SRSF1_ENST00000258962.4_Splice_Site_p.D66H|SRSF1_ENST00000585096.1_Splice_Site_p.D66H|SRSF1_ENST00000584773.1_Splice_Site_p.D66H NM_001078166.1 NP_001071634.1 Q07955 SRSF1_HUMAN serine/arginine-rich splicing factor 1 66 RRM 1. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytoplasm|nuclear speck nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TCTTCCGCGTCTCTGCGGGAT 0.607000 11 19 0 0 1 0 0 POLE 5426 broad.mit.edu 37 12 133256217 133256217 + Missense_Mutation SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr12:133256217C>G ENST00000320574.5 - 6 487 c.444G>C c.(442-444)ttG>ttC p.L148F POLE_ENST00000535270.1_Missense_Mutation_p.L121F NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 148 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) AATTTCGCTTCAAACCCACCA 0.463000 DNA polymerases (catalytic subunits) 10 50 0 0 1 0 0 BRD7 29117 broad.mit.edu 37 16 50357575 50357575 + Missense_Mutation SNP G G C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr16:50357575G>C ENST00000394688.3 - 12 1525 c.1366C>G c.(1366-1368)Ccg>Gcg p.P456A BRD7_ENST00000394689.2_Missense_Mutation_p.P456A Q9NPI1 BRD7_HUMAN bromodomain containing 7 456 cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleus histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2) 22 all_cancers(37;0.0127) ATGACATACGGATAATCTTGG 0.443000 10 92 0 0 1 0 0 SYTL4 94121 broad.mit.edu 37 X 99931127 99931127 + Silent SNP T T C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chrX:99931127T>C ENST00000455616.1 - 18 2260 c.1914A>G c.(1912-1914)gaA>gaG p.E638E SYTL4_ENST00000454200.2_Silent_p.E640E|SYTL4_ENST00000263033.5_Silent_p.E638E|SYTL4_ENST00000276141.6_Silent_p.E638E|SYTL4_ENST00000491602.1_5'UTR|SYTL4_ENST00000372989.1_Silent_p.E638E Q96C24 SYTL4_HUMAN synaptotagmin-like 4 638 exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2) 27 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GGCTCACTTCTTCCCCAGTCG 0.567000 13 28 0 0 1 0 0 GLI3 2737 broad.mit.edu 37 7 42005822 42005822 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr7:42005822C>T ENST00000395925.3 - 15 2933 c.2849G>A c.(2848-2850)aGg>aAg p.R950K GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 950 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 CAGGCTCATCCTCTCCATGTT 0.711000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 13 15 0 0 1 0 0 F13B 2165 broad.mit.edu 37 1 197029556 197029556 + Nonsense_Mutation SNP C C A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr1:197029556C>A ENST00000367412.1 - 5 788 c.745G>T c.(745-747)Gga>Tga p.G249* NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 249 Sushi 4. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 AAATCAGATCCACTTAGATAA 0.308000 13 109 4.93089e-13 5.35354e-13 1 1 0 SYNJ2 8871 broad.mit.edu 37 6 158516887 158516887 + Missense_Mutation SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr6:158516887C>G ENST00000355585.4 + 27 4057 c.3982C>G c.(3982-3984)Ctt>Gtt p.L1328V SYNJ2_ENST00000367122.2_Missense_Mutation_p.L1283V|SYNJ2_ENST00000367112.1_Missense_Mutation_p.L413V NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 1328 Pro-rich. nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) GGCGCCGCCTCTTGTGCCCAA 0.642000 28 28 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105416415 105416415 + Silent SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr14:105416415C>T ENST00000333244.5 - 7 5492 c.5373G>A c.(5371-5373)gtG>gtA p.V1791V AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1791 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCTCGACGTCCACCTCCACGC 0.637000 142 275 0 0 1 0 0 INTS1 26173 broad.mit.edu 37 7 1538776 1538776 + Silent SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr7:1538776G>A ENST00000389470.4 - 9 1355 c.1356C>T c.(1354-1356)agC>agT p.S452S INTS1_ENST00000404767.3_Silent_p.S324S Q8N201 INT1_HUMAN integrator complex subunit 1 324 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) ACTCCTCCACGCTCTCCGCGA 0.697000 21 20 0 0 1 0 0 CLK2 1196 broad.mit.edu 37 1 155234520 155234520 + Missense_Mutation SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr1:155234520C>G ENST00000368361.4 - 9 1294 c.979G>C c.(979-981)Gac>Cac p.D327H CLK2_ENST00000361168.5_Missense_Mutation_p.D326H|CLK2_ENST00000355560.4_Missense_Mutation_p.D325H|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000536801.1_Missense_Mutation_p.D327H P49760 CLK2_HUMAN CDC-like kinase 2 327 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 22 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CTGCCAAAGTCTACCACCCGC 0.547000 Other conserved DNA damage response genes 56 1 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216243955 216243955 + Silent SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr2:216243955G>A ENST00000354785.4 - 34 5889 c.5520C>T c.(5518-5520)ctC>ctT p.L1840L FN1_ENST00000443816.1_Silent_p.L1659L|FN1_ENST00000336916.4_Silent_p.L1749L|FN1_ENST00000359671.1_Silent_p.L1749L|FN1_ENST00000346544.3_Silent_p.L1749L|FN1_ENST00000357009.2_Silent_p.L1749L|FN1_ENST00000490833.1_5'UTR|FN1_ENST00000421182.1_Silent_p.L1659L|FN1_ENST00000345488.5_Silent_p.L1749L|FN1_ENST00000357867.4_Silent_p.L1659L|FN1_ENST00000446046.1_Silent_p.L1749L|FN1_ENST00000356005.4_Silent_p.L1659L|FN1_ENST00000323926.6_Silent_p.L1840L|FN1_ENST00000432072.2_Silent_p.L1750L P02751 FINC_HUMAN fibronectin 1 1841 Binds to FBLN1.|Fibronectin type-III 14.|Heparin-binding 2. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GATATCCAGTGAGCTGAACAT 0.527000 31 6 0 0 1 0 0 BAHCC1 57597 broad.mit.edu 37 17 79408925 79408925 + Missense_Mutation SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr17:79408925G>A ENST00000307745.7 + 9 550 c.550G>A c.(550-552)Gtg>Atg p.V184M CTTCCCCAGCGTGGCCCGGGC 0.682000 18 106 0 0 1 0 0 RC3H1 149041 broad.mit.edu 37 1 173931017 173931017 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr1:173931017C>T ENST00000367696.2 - 12 2399 c.2048G>A c.(2047-2049)aGa>aAa p.R683K RC3H1_ENST00000258349.4_Missense_Mutation_p.R683K|RC3H1_ENST00000367694.2_Missense_Mutation_p.R683K Q5TC82 RC3H1_HUMAN ring finger and CCCH-type domains 1 683 Pro-rich. cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 50 TATCTCTTCTCTTGTGTAAGA 0.478000 145 13 0 0 1 0 0 GJB3 2707 broad.mit.edu 37 1 35250926 35250926 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr1:35250926C>T ENST00000373366.2 + 2 1178 c.563C>T c.(562-564)aCc>aTc p.T188I GJB3_ENST00000373362.3_Missense_Mutation_p.T188I|RP1-34M23.5_ENST00000542839.1_RNA NM_024009.2 NP_076872.1 O75712 CXB3_HUMAN gap junction protein, beta 3, 31kDa 188 cell communication connexon complex|integral to membrane gap junction channel activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) AAAATCTTCACCTACTTCATG 0.597000 9 48 0 0 1 0 0 UNC5C 8633 broad.mit.edu 37 4 96222874 96222874 + Missense_Mutation SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr4:96222874C>G ENST00000453304.1 - 3 721 c.373G>C c.(373-375)Gag>Cag p.E125Q UNC5C_ENST00000504962.1_Missense_Mutation_p.E125Q|UNC5C_ENST00000506749.1_Missense_Mutation_p.E125Q NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 125 Ig-like. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) CGCGAAATCTCAATGCTCACT 0.453000 19 21 0 0 1 0 0 FIBCD1 84929 broad.mit.edu 37 9 133779605 133779605 + Missense_Mutation SNP T T G rs146335615 by1000genomes TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr9:133779605T>G ENST00000372338.4 - 7 1474 c.1232A>C c.(1231-1233)tAc>tCc p.Y411S FIBCD1_ENST00000372337.2_Missense_Mutation_p.Y253S|FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000448616.1_Missense_Mutation_p.Y411S NM_032843.4 NP_116232.3 Q8N539 FBCD1_HUMAN fibrinogen C domain containing 1 411 Fibrinogen C-terminal. signal transduction extracellular space|integral to membrane chitin binding|metal ion binding|receptor binding kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1) 12 all_hematologic(7;0.0028) OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019) GCAGTTGCGGTACCACCAGGC 0.637000 15 71 0 0 1 0 0 CHRM5 1133 broad.mit.edu 37 15 34355828 34355828 + Missense_Mutation SNP A A T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr15:34355828A>T ENST00000383263.5 + 3 1580 c.910A>T c.(910-912)Agc>Tgc p.S304C CHRM5_ENST00000557872.1_Missense_Mutation_p.S304C NM_012125.3 NP_036257.1 P08912 ACM5_HUMAN cholinergic receptor, muscarinic 5 304 cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 20 all_lung(180;1.76e-08) all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372) CACCACCTGTAGCAGCTACCC 0.592000 10 59 0 0 1 0 0 STAG1 10274 broad.mit.edu 37 3 136152409 136152409 + Missense_Mutation SNP T T A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr3:136152409T>A ENST00000383202.2 - 16 1895 c.1639A>T c.(1639-1641)Acc>Tcc p.T547S STAG1_ENST00000434713.2_Missense_Mutation_p.T321S|STAG1_ENST00000536929.1_Missense_Mutation_p.T131S|STAG1_ENST00000236698.5_Missense_Mutation_p.T547S NM_005862.2 NP_005853.2 Q8WVM7 STAG1_HUMAN stromal antigen 1 547 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 CTCTTGCCGGTACCCCTTCCC 0.383000 24 49 0 0 1 0 0 OR14K1 343170 broad.mit.edu 37 1 247902645 247902645 + Silent SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr1:247902645C>T ENST00000283225.2 + 1 729 c.729C>T c.(727-729)ctC>ctT p.L243L RP11-634B7.4_ENST00000449298.1_RNA olfactory receptor, family 14, subfamily K, member 1 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1) 27 TGCCTCACCTCATTGTTGTCA 0.413000 34 2 0 0 1 0 0 SCRN2 90507 broad.mit.edu 37 17 45915932 45915932 + Silent SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr17:45915932G>A ENST00000407215.3 - 6 984 c.903C>T c.(901-903)tgC>tgT p.C301C SCRN2_ENST00000584123.1_Silent_p.C309C|SCRN2_ENST00000290216.9_Silent_p.C301C Q96FV2 SCRN2_HUMAN secernin 2 301 proteolysis dipeptidase activity cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 14 GAAAGTGCACGCAGGGCTGCG 0.587000 14 107 0 0 1 0 0 IFIT1 3434 broad.mit.edu 37 10 91162847 91162847 + Missense_Mutation SNP A A T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr10:91162847A>T ENST00000546318.1 + 2 2009 c.722A>T c.(721-723)gAg>gTg p.E241V LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000371804.3_Missense_Mutation_p.E272V NM_001270928.1|NM_001270929.1|NM_001270930.1 NP_001257857.1|NP_001257858.1|NP_001257859.1 P09914 IFIT1_HUMAN interferon-induced protein with tetratricopeptide repeats 1 272 cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway cytoplasm protein binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1) 15 AAAGCTCTTGAGTTATTAAAA 0.433000 71 37 0 0 1 0 0 SHC1 6464 broad.mit.edu 37 1 154942884 154942884 + Nonsense_Mutation SNP G G T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr1:154942884G>T ENST00000448116.2 - 1 339 c.119C>A c.(118-120)tCa>tAa p.S40* SHC1_ENST00000368449.4_Intron|SHC1_ENST00000368450.1_Intron|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368453.4_Intron|SHC1_ENST00000368445.5_Nonsense_Mutation_p.S40* NM_001130040.1 NP_001123512.1 P29353 SHC1_HUMAN SHC (Src homology 2 domain containing) transforming protein 1 40 activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth cytosol|mitochondrial matrix|Shc-EGFR complex epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 20 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) CCCCAGGGATGAAGCTGATGG 0.627000 7 34 0.00198382 0.00201325 1 1 0 RBM8A 9939 broad.mit.edu 37 1 145508513 145508513 + Missense_Mutation SNP G G C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr1:145508513G>C ENST00000330165.8 + 4 313 c.244G>C c.(244-246)Gag>Cag p.E82Q RBM8A_ENST00000369307.3_Missense_Mutation_p.E81Q NM_005105.3 NP_005096.1 Q9Y5S9 RBM8A_HUMAN RNA binding motif protein 8A RRM. mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck mRNA binding|nucleotide binding|protein binding kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 6 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TGGAGTCCATGAGGAAGCCAC 0.468000 66 3 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170042460 170042460 + Missense_Mutation SNP A A G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr2:170042460A>G ENST00000263816.3 - 50 9683 c.9398T>C c.(9397-9399)tTc>tCc p.F3133S NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 3133 EGF-like 11. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GGAACAATAGAAACTGGTTAA 0.443000 44 46 0 0 1 0 0 PIP4K2A 5305 broad.mit.edu 37 10 22856793 22856793 + Missense_Mutation SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr10:22856793C>G ENST00000376573.4 - 6 893 c.665G>C c.(664-666)aGt>aCt p.S222T PIP4K2A_ENST00000323883.7_Missense_Mutation_p.S82T|PIP4K2A_ENST00000422321.1_5'UTR|PIP4K2A_ENST00000545335.1_Missense_Mutation_p.S163T NM_005028.4 NP_005019.2 P48426 PI42A_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, alpha 222 PIPK. 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 29 TTCTTTGTCACTAGCTTCTCT 0.443000 12 73 0 0 1 0 0 OR51G2 81282 broad.mit.edu 37 11 4936541 4936541 + Missense_Mutation SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr11:4936541G>A ENST00000322013.3 - 1 381 c.353C>T c.(352-354)tCt>tTt p.S118F MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005238.1 NP_001005238.1 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, member 2 118 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) CAGTAGCACAGAGGACTCGAG 0.502000 17 2 0 0 1 0 0 LY6H 4062 broad.mit.edu 37 8 144240320 144240320 + Silent SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr8:144240320C>T ENST00000414417.2 - 4 383 c.150G>A c.(148-150)caG>caA p.Q50Q LY6H_ENST00000342752.4_Silent_p.Q50Q|LY6H_ENST00000430474.2_Silent_p.Q29Q NM_001130478.1 NP_001123950.1 O94772 LY6H_HUMAN lymphocyte antigen 6 complex, locus H 29 UPAR/Ly6. nervous system development|organ morphogenesis anchored to membrane|plasma membrane endometrium(1)|lung(1)|stomach(2) 4 all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) GGGTGCAGTCCTGGCACCACA 0.667000 17 20 0 0 1 0 0 NAA38 51691 broad.mit.edu 37 7 117828407 117828407 + Nonsense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr7:117828407C>T ENST00000424702.1 + 3 228 c.148C>T c.(148-150)Cag>Tag p.Q50* NAA38_ENST00000249299.2_Nonsense_Mutation_p.Q50*|NAA38_ENST00000422760.1_Nonsense_Mutation_p.Q29* O95777 NAA38_HUMAN N(alpha)-acetyltransferase 38, NatC auxiliary subunit 50 nuclear mRNA splicing, via spliceosome nucleus|ribonucleoprotein complex protein binding|U6 snRNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 8 CAGCTCTTCACAGGGGGTAGA 0.343000 17 77 0 0 1 0 0 PIGA 5277 broad.mit.edu 37 X 15344035 15344035 + Splice_Site SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chrX:15344035C>G ENST00000333590.4 - 3 933 c.e3+1 PIGA_ENST00000542278.1_Splice_Site|PIGA_ENST00000428964.1_Splice_Site|PIGA_ENST00000482148.1_Intron NM_002641.3 NP_002632.1 P37287 PIGA_HUMAN phosphatidylinositol glycan anchor biosynthesis, class A C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1) 10 Hepatocellular(33;0.183) TTCATCAATACCTGTCATGCA 0.388000 38 61 0 0 1 0 0 OR4C3 256144 broad.mit.edu 37 11 48347200 48347200 + Silent SNP C C T rs141730559 TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr11:48347200C>T ENST00000319856.4 + 1 729 c.708C>T c.(706-708)ttC>ttT p.F236F NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 TGTTGAACTTCCTCATGCTGG 0.522000 35 15 0 0 1 0 0 DYRK4 8798 broad.mit.edu 37 12 4702297 4702297 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr12:4702297C>T ENST00000540757.2 + 4 408 c.248C>T c.(247-249)aCg>aTg p.T83M DYRK4_ENST00000010132.5_Missense_Mutation_p.T83M|DYRK4_ENST00000543431.1_Missense_Mutation_p.T83M NM_001282285.1|NM_001282286.1|NM_003845.1 NP_001269214.1|NP_001269215.1|NP_003836.1 Q9NR20 DYRK4_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 83 Golgi apparatus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 Colorectal(7;0.103) TTTAGCAAGACGAGTTTTGAT 0.522000 11 19 0 0 1 0 0 ATP13A2 23400 broad.mit.edu 37 1 17319052 17319052 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr1:17319052C>T ENST00000452699.1 - 17 1948 c.1759G>A c.(1759-1761)Gac>Aac p.D587N ATP13A2_ENST00000326735.8_Missense_Mutation_p.D592N|ATP13A2_ENST00000341676.5_Missense_Mutation_p.D587N|RP1-37C10.3_ENST00000446261.1_RNA NM_001141973.1|NM_022089.2 NP_001135445.1|NP_071372.1 Q9NQ11 AT132_HUMAN ATPase type 13A2 592 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) AATGCTGAGTCTGCAGCCGGC 0.607000 37 58 0 0 1 0 0 CXCR6 10663 broad.mit.edu 37 3 45988353 45988353 + Missense_Mutation SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr3:45988353G>A ENST00000458629.1 + 1 1843 c.380G>A c.(379-381)cGt>cAt p.R127H FYCO1_ENST00000438446.1_Intron|FYCO1_ENST00000535325.1_Intron|CXCR6_ENST00000457814.1_Missense_Mutation_p.R127H|CXCR6_ENST00000438735.1_Missense_Mutation_p.R127H|FYCO1_ENST00000296137.2_Intron|CXCR6_ENST00000304552.4_Missense_Mutation_p.R127H O00574 CXCR6_HUMAN chemokine (C-X-C motif) receptor 6 127 viral genome replication integral to plasma membrane coreceptor activity central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) ACTGTGGATCGTTTCATTGTA 0.517000 8 246 0 0 1 0 0 SSH1 54434 broad.mit.edu 37 12 109186002 109186002 + Missense_Mutation SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr12:109186002C>G ENST00000326470.5 - 13 2131 c.1986G>C c.(1984-1986)tgG>tgC p.W662C SSH1_ENST00000326495.5_Intron|SSH1_ENST00000360239.3_Intron|SSH1_ENST00000551165.1_Missense_Mutation_p.W651C NM_001161331.1 NP_001154803.1 Q8WYL5 SSH1_HUMAN slingshot protein phosphatase 1 0 actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 ctgaggtaggCCAATTAGAGT 0.582000 4 10 0 0 1 0 0 GPR34 2857 broad.mit.edu 37 X 41555163 41555163 + Silent SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chrX:41555163C>T ENST00000378142.4 + 3 561 c.277C>T c.(277-279)Cta>Tta p.L93L CASK_ENST00000421587.2_Intron|GPR34_ENST00000378138.5_Silent_p.L93L|CASK_ENST00000378154.1_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000378158.1_Intron NM_001097579.1|NM_005300.3 NP_001091048.1|NP_005291.1 Q9UPC5 GPR34_HUMAN G protein-coupled receptor 34 93 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 14 TCAAATTTATCTACTTAACGT 0.393000 75 60 0 0 1 0 0 PLXNB3 5365 broad.mit.edu 37 X 153036251 153036251 + Missense_Mutation SNP G G T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chrX:153036251G>T ENST00000538966.1 + 12 2389 c.2118G>T c.(2116-2118)caG>caT p.Q706H PLXNB3_ENST00000538776.1_Missense_Mutation_p.Q336H|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Missense_Mutation_p.Q293H|PLXNB3_ENST00000361971.5_Missense_Mutation_p.Q683H NM_001163257.1 NP_001156729.1 Q9ULL4 PLXB3_HUMAN plexin B3 683 axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) CTTGCCCACAGGTCGAAGGCC 0.632000 5 33 2.0095e-06 2.10168e-06 1 1 0 POMGNT1 55624 broad.mit.edu 37 1 46662485 46662485 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr1:46662485C>T ENST00000396420.3 - 4 908 c.272G>A c.(271-273)aGa>aAa p.R91K POMGNT1_ENST00000535522.1_Missense_Mutation_p.R69K|POMGNT1_ENST00000371986.3_Missense_Mutation_p.R91K|POMGNT1_ENST00000371984.3_Missense_Mutation_p.R91K|POMGNT1_ENST00000371992.1_Missense_Mutation_p.R91K Q8WZA1 PMGT1_HUMAN protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 91 protein N-linked glycosylation|protein O-linked glycosylation Golgi membrane|integral to membrane|microsome alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(166;0.155) ACCACTGCCTCTGCGCCGTGG 0.617000 37 48 0 0 1 0 0 PTPN21 11099 broad.mit.edu 37 14 88945819 88945819 + Silent SNP G G C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr14:88945819G>C ENST00000556564.1 - 13 2240 c.1956C>G c.(1954-1956)ctC>ctG p.L652L PTPN21_ENST00000328736.3_Silent_p.L652L NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 652 cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 TGCGCTCCTTGAGCCGCAGGC 0.711000 18 12 0 0 1 0 0 JRKL 8690 broad.mit.edu 37 11 96125185 96125185 + Missense_Mutation SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr11:96125185G>A ENST00000458427.1 + 1 2028 c.1372G>A c.(1372-1374)Gat>Aat p.D458N JRKL_ENST00000546177.1_Intron|JRKL_ENST00000332349.4_Missense_Mutation_p.D458N NM_003772.3 NP_003763.2 Q9Y4A0 JERKL_HUMAN jerky homolog-like (mouse) 458 central nervous system development|regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) BRCA - Breast invasive adenocarcinoma(274;0.148) AGGCCAGGCAGATGAATCCAG 0.403000 26 30 0 0 1 0 0 KDM2B 84678 broad.mit.edu 37 12 122018804 122018804 + Missense_Mutation SNP G G C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr12:122018804G>C ENST00000377071.4 - 1 85 c.13C>G c.(13-15)Caa>Gaa p.Q5E KDM2B_ENST00000538046.2_Missense_Mutation_p.Q5E|RP13-941N14.1_ENST00000541574.1_lincRNA|KDM2B_ENST00000536437.1_5'UTR NM_032590.4 NP_115979.3 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 5 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding p.Q5E(1) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 CCCCCCATTTGCGGACCCGCC 0.463000 4 132 0 0 1 0 0 AL133373.1 0 broad.mit.edu 37 14 92040815 92040815 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr14:92040815C>T ENST00000596306.1 - 1 568 c.142G>A c.(142-144)Gaa>Aaa p.E48K GATCCGAGTTCTTGTTCCCCG 0.617000 9 23 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139405106 139405106 + Splice_Site SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr9:139405106G>A ENST00000277541.6 - 17 2814 c.2739C>T c.(2737-2739)ccC>ccT p.P913P NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 913 EGF-like 24. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GCTACTCACTGGGCCGGCAGT 0.687000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 4 6 0 0 1 0 0 TRO 7216 broad.mit.edu 37 X 54954194 54954194 + Missense_Mutation SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chrX:54954194G>A ENST00000173898.7 + 11 1970 c.1858G>A c.(1858-1860)Gtc>Atc p.V620I TRO_ENST00000375041.2_Missense_Mutation_p.V223I|TRO_ENST00000420798.2_Missense_Mutation_p.V151I|TRO_ENST00000319167.8_Missense_Mutation_p.V620I|TRO_ENST00000375022.4_Missense_Mutation_p.V620I|TRO_ENST00000399736.1_Missense_Mutation_p.V223I NM_001039705.2 NP_001034794.1 Q12816 TROP_HUMAN trophinin 620 MAGE. embryo implantation|homophilic cell adhesion integral to plasma membrane breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 CAAGATGAAAGTCCTCAAGTT 0.537000 3 13 0 0 1 0 0 RBM10 8241 broad.mit.edu 37 X 47045006 47045006 + Nonsense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chrX:47045006C>T ENST00000377604.3 + 20 3074 c.2332C>T c.(2332-2334)Cag>Tag p.Q778* RBM10_ENST00000345781.6_Nonsense_Mutation_p.Q701*|RBM10_ENST00000329236.7_Nonsense_Mutation_p.Q700* NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 778 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 CATCCGGCACCAGCAGCTCTC 0.642000 7 2 0 0 1 0 0 TSC2 7249 broad.mit.edu 37 16 2130277 2130277 + Nonsense_Mutation SNP C C A rs45517296 TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr16:2130277C>A ENST00000219476.3 + 30 4139 c.3509C>A c.(3508-3510)tCa>tAa p.S1170* TSC2_ENST00000353929.4_Nonsense_Mutation_p.S1127*|TSC2_ENST00000568454.1_Nonsense_Mutation_p.S1137*|TSC2_ENST00000382538.6_Nonsense_Mutation_p.S1078*|TSC2_ENST00000439673.2_Nonsense_Mutation_p.S1090*|TSC2_ENST00000350773.4_Nonsense_Mutation_p.S1170*|TSC2_ENST00000401874.2_Nonsense_Mutation_p.S1126* NM_000548.3 NP_000539.2 P49815 TSC2_HUMAN tuberous sclerosis 2 1170 cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) GAGAAGGCCTCAGCTGGCACC 0.672000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 9 68 0.00621372 0.00628725 1 1 0 SLC16A9 220963 broad.mit.edu 37 10 61413875 61413875 + Silent SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr10:61413875G>A ENST00000395348.3 - 5 1545 c.909C>T c.(907-909)aaC>aaT p.N303N SLC16A9_ENST00000395347.1_Silent_p.N303N NM_194298.2 NP_919274.1 Q7RTY1 MOT9_HUMAN solute carrier family 16, member 9 303 urate metabolic process integral to membrane|plasma membrane symporter activity kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 23 AAAATACTTTGTTTTTAAAAA 0.373000 14 49 0 0 1 0 0 TRIM32 22954 broad.mit.edu 37 9 119461693 119461693 + Missense_Mutation SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr9:119461693G>A ENST00000450136.1 + 2 1833 c.1672G>A c.(1672-1674)Gat>Aat p.D558N ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.D558N|ASTN2_ENST00000313400.4_Intron NM_001099679.1|NM_012210.3 NP_001093149.1|NP_036342.2 Q13049 TRI32_HUMAN tripartite motif containing 32 558 fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV nucleus myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 26 TGTAGGCCCTGATGGGCAGCT 0.562000 20 11 0 0 1 0 0 CES3 23491 broad.mit.edu 37 16 66997260 66997260 + Silent SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr16:66997260G>A ENST00000303334.4 + 2 332 c.261G>A c.(259-261)gtG>gtA p.V87V CES3_ENST00000394037.1_Silent_p.V87V NM_024922.5 NP_079198.2 Q6UWW8 EST3_HUMAN carboxylesterase 3 87 endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 24 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127) GGGAGGGTGTGCGGGATGCCA 0.637000 17 50 0 0 1 0 0 GRIA1 2890 broad.mit.edu 37 5 153174257 153174257 + Missense_Mutation SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr5:153174257G>A ENST00000285900.5 + 14 2690 c.2347G>A c.(2347-2349)Gac>Aac p.D783N GRIA1_ENST00000448073.4_Intron|GRIA1_ENST00000518783.1_Missense_Mutation_p.D793N|GRIA1_ENST00000518142.1_Missense_Mutation_p.D703N|GRIA1_ENST00000521843.2_Missense_Mutation_p.D714N|GRIA1_ENST00000340592.5_Intron NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 783 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) ATGGTGGTACGACAAGGGCGA 0.443000 14 14 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90491236 90491236 + Missense_Mutation SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr6:90491236C>G ENST00000369393.3 - 10 1640 c.1525G>C c.(1525-1527)Gag>Cag p.E509Q MDN1_ENST00000428876.1_Missense_Mutation_p.E509Q Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 509 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TGATGTTTCTCTCCAGTAAGT 0.433000 4 68 0 0 1 0 0 PTOV1 53635 broad.mit.edu 37 19 50360362 50360362 + Missense_Mutation SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr19:50360362G>A ENST00000391842.1 + 6 859 c.689G>A c.(688-690)cGg>cAg p.R230Q AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000221557.9_Missense_Mutation_p.R198Q|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000601638.1_Missense_Mutation_p.R198Q|PTOV1_ENST00000599732.1_Missense_Mutation_p.R230Q|PTOV1_ENST00000600603.1_Missense_Mutation_p.R198Q|PTOV1_ENST00000601675.1_Missense_Mutation_p.R230Q NM_017432.3 NP_059128.2 Q86YD1 PTOV1_HUMAN prostate tumor overexpressed 1 230 Interaction with FLOT1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|plasma membrane endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1) 16 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132) AGTGCCATCCGGCAGGTCATC 0.622000 51 185 0 0 1 0 0 APOC4 346 broad.mit.edu 37 19 45448494 45448494 + Missense_Mutation SNP G G C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr19:45448494G>C ENST00000419266.2 + 3 356 c.316G>C c.(316-318)Gac>Cac p.D106H APOC4_ENST00000592954.1_Missense_Mutation_p.D106H|APOC4-APOC2_ENST00000589057.1_Intron P55056 APOC4_HUMAN apolipoprotein C-IV lipid metabolic process|positive regulation of sequestering of triglyceride|triglyceride homeostasis high-density lipoprotein particle|very-low-density lipoprotein particle lipid transporter activity breast(1)|endometrium(1)|lung(2) 4 Lung NSC(12;0.00858)|all_lung(12;0.0197) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00334)|Epithelial(262;0.178) CGAATCCAAAGACAGCCTCTT 0.572000 49 159 0 0 1 0 0 MOCS2 4338 broad.mit.edu 37 5 52403014 52403014 + Missense_Mutation SNP G G A rs146074751 by1000genomes TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr5:52403014G>A ENST00000361377.4 - 3 219 c.178C>T c.(178-180)Cgt>Tgt p.R60C MOCS2_ENST00000527216.1_Missense_Mutation_p.R55C|MOCS2_ENST00000508922.1_Missense_Mutation_p.R60C|MOCS2_ENST00000450852.3_Missense_Mutation_p.R60C|MOCS2_ENST00000584946.1_Missense_Mutation_p.R60C|MOCS2_ENST00000396954.3_5'UTR|MOCS2_ENST00000510818.2_Missense_Mutation_p.R60C|MOCS2_ENST00000582677.1_Missense_Mutation_p.R60C O96033 MOC2A_HUMAN molybdenum cofactor synthesis 2 60 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex nucleotide binding endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 5 Lung NSC(810;3.08e-05)|Breast(144;0.0848) TATTCTTGACGAACAGCAAAT 0.433000 16 9 0 0 1 0 0 LRRFIP2 9209 broad.mit.edu 37 3 37100312 37100312 + Missense_Mutation SNP A A T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr3:37100312A>T ENST00000421307.1 - 26 2261 c.1839T>A c.(1837-1839)aaT>aaA p.N613K LRRFIP2_ENST00000440230.1_Missense_Mutation_p.N316K|MLH1_ENST00000536378.1_Intron|LRRFIP2_ENST00000354379.4_Missense_Mutation_p.N292K|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.N395K|LRRFIP2_ENST00000336686.4_Missense_Mutation_p.N613K|LRRFIP2_ENST00000421276.2_Missense_Mutation_p.N316K NM_006309.2 NP_006300.1 Q9Y608 LRRF2_HUMAN leucine rich repeat (in FLII) interacting protein 2 613 Wnt receptor signaling pathway LRR domain binding p.0?(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 AGTCTGAGCCATTCTGCAGTC 0.498000 30 36 0 0 1 0 0 ZEB2 9839 broad.mit.edu 37 2 145147089 145147089 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr2:145147089C>T ENST00000558170.2 - 10 4758 c.3574G>A c.(3574-3576)Gat>Aat p.D1192N ZEB2_ENST00000539609.3_Missense_Mutation_p.D1168N|ZEB2_ENST00000409487.3_Missense_Mutation_p.D1192N|ZEB2_ENST00000303660.4_Missense_Mutation_p.D1192N NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 1192 Glu-rich (acidic). cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) TCCGAACTATCGTCCATGGAG 0.418000 85 90 0 0 1 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 22 0 0 1 0 0 BRDT 676 broad.mit.edu 37 1 92433781 92433781 + Missense_Mutation SNP G G C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr1:92433781G>C ENST00000370389.2 + 4 1114 c.190G>C c.(190-192)Gag>Cag p.E64Q BRDT_ENST00000402388.1_Missense_Mutation_p.E137Q|BRDT_ENST00000399546.2_Missense_Mutation_p.E137Q|BRDT_ENST00000362005.3_Missense_Mutation_p.E137Q|BRDT_ENST00000394530.3_Missense_Mutation_p.E91Q NM_001242810.1 NP_001229739 Q58F21 BRDT_HUMAN bromodomain, testis-specific 137 Bromo 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) GCCACAAGAAGAGCAAGTTGT 0.378000 17 27 0 0 1 0 0 NEDD4 4734 broad.mit.edu 37 15 56208871 56208871 + Silent SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr15:56208871G>A ENST00000508342.1 - 1 458 c.159C>T c.(157-159)ccC>ccT p.P53P NEDD4_ENST00000338963.2_Silent_p.P53P|NEDD4_ENST00000506154.1_Silent_p.P53P|NEDD4_ENST00000435532.3_Intron NM_001284338.1 NP_001271267.1 P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase 53 development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) CAGTCTGTCTGGGAGTCAGCT 0.423000 53 46 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52430897 52430897 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr3:52430897C>T ENST00000420323.2 + 73 11885 c.11624C>T c.(11623-11625)aCg>aTg p.T3875M NM_015512.4 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 3940 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CTCAAGTACACGGCAGGGGAG 0.612000 14 36 0 0 1 0 0 KCNQ3 3786 broad.mit.edu 37 8 133187774 133187774 + Missense_Mutation SNP G G T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr8:133187774G>T ENST00000388996.4 - 5 1279 c.859C>A c.(859-861)Cca>Aca p.P287T KCNQ3_ENST00000519445.1_Missense_Mutation_p.P287T|KCNQ3_ENST00000521134.1_Missense_Mutation_p.P167T NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 287 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TCCACCTCTGGGACGTCTTTC 0.502000 28 39 9.80776e-20 1.10337e-19 1 1 0 AKAP9 10142 broad.mit.edu 37 7 91667732 91667732 + Splice_Site SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr7:91667732G>A ENST00000359028.2 + 18 4599 c.e18-1 AKAP9_ENST00000356239.3_Splice_Site|AKAP9_ENST00000358100.2_Splice_Site Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TATTTCTTTAGGTTATTGTGT 0.303000 T BRAF papillary thyroid 22 24 0 0 1 0 0 BAZ2A 11176 broad.mit.edu 37 12 56998058 56998058 + Missense_Mutation SNP A A G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr12:56998058A>G ENST00000179765.5 - 17 3090 c.2891T>C c.(2890-2892)cTg>cCg p.L964P BAZ2A_ENST00000551812.1_Missense_Mutation_p.L996P|BAZ2A_ENST00000379441.3_Missense_Mutation_p.L966P|BAZ2A_ENST00000549884.1_Missense_Mutation_p.L994P Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 996 chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1) 31 CATACTCTCCAGAGTCTTGTC 0.507000 11 12 0 0 1 0 0 PRKRIP1 79706 broad.mit.edu 37 7 102036889 102036889 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr7:102036889C>T ENST00000496391.1 + 5 1341 c.31C>T c.(31-33)Cca>Tca p.P11S PRKRIP1_ENST00000462601.1_Intron|PRKRIP1_ENST00000482465.1_Intron|PRKRIP1_ENST00000397912.3_Missense_Mutation_p.P11S|PRKRIP1_ENST00000354783.4_5'UTR Q9H875 PKRI1_HUMAN PRKR interacting protein 1 (IL11 inducible) 11 Interaction with EIF2AK2 (By similarity). nucleolus endometrium(1)|lung(4)|ovary(1) 6 CTCGGTGCGACCACCGAGGCC 0.662000 9 12 0 0 1 0 0 MYO7A 4647 broad.mit.edu 37 11 76901909 76901909 + Missense_Mutation SNP T T G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr11:76901909T>G ENST00000409709.3 + 30 4190 c.3918T>G c.(3916-3918)ttT>ttG p.F1306L MYO7A_ENST00000409619.2_Missense_Mutation_p.F1295L|MYO7A_ENST00000458637.2_Missense_Mutation_p.F1306L NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 1306 FERM 1. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 TTGCCCTGTTTGACAAGGTAT 0.637000 3 5 0 0 1 0 0 SRSF4 6429 broad.mit.edu 37 1 29475342 29475342 + Missense_Mutation SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr1:29475342C>G ENST00000373795.4 - 6 1299 c.1065G>C c.(1063-1065)aaG>aaC p.K355N SRSF4_ENST00000546138.1_3'UTR|SRSF4_ENST00000466448.1_5'UTR NM_005626.4 NP_005617.2 Q08170 SRSF4_HUMAN serine/arginine-rich splicing factor 4 355 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1) 27 tcttcctgcccttcctcttgt 0.647000 3 15 0 0 1 0 0 SNAP47 116841 broad.mit.edu 37 1 227923158 227923158 + Silent SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr1:227923158G>A ENST00000366759.4 + 1 462 c.48G>A c.(46-48)ccG>ccA p.P16P SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000315781.5_Silent_p.P16P NM_053052.3 NP_444280.2 Q5SQN1 SNP47_HUMAN synaptosomal-associated protein, 47kDa 16 endomembrane system|membrane|perinuclear region of cytoplasm endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 17 CCGAGCGGCCGAGGCGCCGCG 0.761000 9 0 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 4 27 0 0 1 0 0 FLCN 201163 broad.mit.edu 37 17 17131267 17131267 + Missense_Mutation SNP C C A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr17:17131267C>A ENST00000285071.4 - 4 639 c.185G>T c.(184-186)aGc>aTc p.S62I RP11-45M22.4_ENST00000427497.3_Intron|FLCN_ENST00000389169.5_Missense_Mutation_p.S62I NM_144997.5 NP_659434.2 Q8NFG4 FLCN_HUMAN folliculin 62 regulation of protein phosphorylation cytoplasm|nucleus|plasma membrane protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 CTCTGCGGGGCTGTGCGCACG 0.607000 Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome 23 24 7.88262e-20 8.89722e-20 1 1 0 VAT1L 57687 broad.mit.edu 37 16 77918652 77918652 + Missense_Mutation SNP C C A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr16:77918652C>A ENST00000302536.2 + 7 1183 c.1030C>A c.(1030-1032)Cag>Aag p.Q344K NM_020927.1 NP_065978.1 Q9HCJ6 VAT1L_HUMAN vesicle amine transport 1-like 344 oxidoreductase activity|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 GCTCTACAACCAGAAGAAGAT 0.488000 7 6 5.18039e-06 5.40151e-06 1 1 0 TEF 7008 broad.mit.edu 37 22 41790148 41790148 + Missense_Mutation SNP A A G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr22:41790148A>G ENST00000266304.4 + 3 640 c.524A>G c.(523-525)aAt>aGt p.N175S TEF_ENST00000406644.3_Missense_Mutation_p.N145S NM_003216.3 NP_003207.1 Q10587 TEF_HUMAN thyrotrophic embryonic factor 175 Pro-rich (proline/acidic region (PAR)). rhythmic process nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(2)|lung(2)|ovary(1) 6 ATCGACCCCAATTGTGTGGAA 0.567000 34 56 0 0 1 0 0 TOMM34 10953 broad.mit.edu 37 20 43585084 43585084 + Missense_Mutation SNP C C G rs139426649 TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr20:43585084C>G ENST00000372813.3 - 2 322 c.170G>C c.(169-171)cGa>cCa p.R57P PABPC1L_ENST00000372819.1_Intron|PABPC1L_ENST00000490798.1_Intron NM_006809.4 NP_006800.2 Q15785 TOM34_HUMAN translocase of outer mitochondrial membrane 34 57 protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane heat shock protein binding|signal sequence binding p.R57L(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1) 11 Myeloproliferative disorder(115;0.0122) ACATGCTGCTCGGTTGGAGTA 0.483000 65 87 0 0 1 0 0 NAV1 89796 broad.mit.edu 37 1 201777258 201777258 + Missense_Mutation SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr1:201777258G>A ENST00000367296.4 + 18 4246 c.3826G>A c.(3826-3828)Gtg>Atg p.V1276M NAV1_ENST00000367300.3_Missense_Mutation_p.V1216M|NAV1_ENST00000367295.1_Missense_Mutation_p.V882M|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Missense_Mutation_p.V1268M|NAV1_ENST00000367302.1_Missense_Mutation_p.V1229M|NAV1_ENST00000295624.6_Missense_Mutation_p.V1273M NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 1276 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 CTCGTCCTCCGTGGGCACTGA 0.562000 53 5 0 0 1 0 0 WDR96 80217 broad.mit.edu 37 10 105947102 105947102 + Missense_Mutation SNP G G C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr10:105947102G>C ENST00000357060.3 - 14 1951 c.1836C>G c.(1834-1836)atC>atG p.I612M WDR96_ENST00000428666.1_Missense_Mutation_p.I613M|WDR96_ENST00000278064.2_Missense_Mutation_p.I543M NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 612 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 GGTAGCTACAGATGTATGGCA 0.393000 13 36 0 0 1 0 0 BEST2 54831 broad.mit.edu 37 19 12865791 12865791 + Missense_Mutation SNP G G T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr19:12865791G>T ENST00000549706.1 + 5 906 c.582G>T c.(580-582)caG>caT p.Q194H BEST2_ENST00000042931.1_Missense_Mutation_p.Q194H|BEST2_ENST00000553030.1_Missense_Mutation_p.Q194H Q8NFU1 BEST2_HUMAN bestrophin 2 194 membrane depolarization|sensory perception of smell chloride channel complex|cilium|plasma membrane chloride channel activity breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1) 12 TGGCGGCACAGGCCCGACGCG 0.572000 9 12 2.17888e-05 2.25811e-05 1 1 0 GLB1L2 89944 broad.mit.edu 37 11 134244528 134244528 + Silent SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr11:134244528C>T ENST00000535456.2 + 18 1928 c.1740C>T c.(1738-1740)ggC>ggT p.G580G GLB1L2_ENST00000339772.7_Silent_p.G580G|GLB1L2_ENST00000389881.3_Silent_p.G580G|GLB1L2_ENST00000529077.1_3'UTR NM_138342.3 NP_612351.2 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 580 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) TCATCAATGGCCAGAACCTTG 0.547000 54 62 0 0 1 0 0 STOX1 219736 broad.mit.edu 37 10 70644366 70644366 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr10:70644366C>T ENST00000298596.6 + 3 897 c.814C>T c.(814-816)Ctt>Ttt p.L272F STOX1_ENST00000399169.4_Missense_Mutation_p.L272F|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.L162F|STOX1_ENST00000399162.2_Intron NM_152709.4 NP_689922.3 Q6ZVD7 STOX1_HUMAN storkhead box 1 272 cytoplasm|nucleolus DNA binding p.L272I(1) breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3) 28 TCACAGAGGTCTTGGGGAATC 0.498000 23 69 0 0 1 0 0 ZFYVE20 64145 broad.mit.edu 37 3 15115431 15115431 + Missense_Mutation SNP A A G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr3:15115431A>G ENST00000253699.3 - 14 2826 c.2213T>C c.(2212-2214)cTc>cCc p.L738P ZFYVE20_ENST00000476527.2_Missense_Mutation_p.L738P NM_022340.2 NP_071735.2 Q9H1K0 RBNS5_HUMAN zinc finger, FYVE domain containing 20 738 Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A. blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2) 26 CTGCAGGAGGAGCTCTTCCTC 0.552000 15 76 0 0 1 0 0 CDC23 8697 broad.mit.edu 37 5 137536861 137536861 + Missense_Mutation SNP G G C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr5:137536861G>C ENST00000394886.2 - 6 619 c.589C>G c.(589-591)Cat>Gat p.H197D NM_004661.3 NP_004652.2 Q9UJX2 CDC23_HUMAN cell division cycle 23 197 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis anaphase-promoting complex|cytosol|nucleoplasm binding|ubiquitin-protein ligase activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GGCAAAACATGAGTAGCTTCC 0.423000 33 41 0 0 1 0 0 BTBD10 84280 broad.mit.edu 37 11 13410643 13410643 + Missense_Mutation SNP C C A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr11:13410643C>A ENST00000278174.5 - 9 1408 c.1163G>T c.(1162-1164)cGc>cTc p.R388L BTBD10_ENST00000530907.1_Missense_Mutation_p.R396L|BTBD10_ENST00000528120.1_Missense_Mutation_p.R340L NM_032320.5 NP_115696.2 Q9BSF8 BTBDA_HUMAN BTB (POZ) domain containing 10 388 nucleus cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1) 20 Epithelial(150;0.0214) CACTTCTGGGCGGCCTCCAGG 0.428000 4 53 0.014758 0.0148448 1 1 0 TRDMT1 1787 broad.mit.edu 37 10 17195596 17195596 + Missense_Mutation SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr10:17195596C>G ENST00000377799.3 - 10 1032 c.985G>C c.(985-987)Gaa>Caa p.E329Q TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000488990.1_Missense_Mutation_p.E206Q|TRDMT1_ENST00000412821.3_Missense_Mutation_p.E305Q|TRDMT1_ENST00000377766.5_3'UTR|TRDMT1_ENST00000457442.2_Missense_Mutation_p.E248Q|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000351358.4_Missense_Mutation_p.E283Q NM_004412.5 NP_004403.1 O14717 TRDMT_HUMAN tRNA aspartic acid methyltransferase 1 329 tRNA processing nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1) 18 ATCTGTTCTTCTTGTGACAAA 0.348000 20 10 0 0 1 0 0 TMEM8B 51754 broad.mit.edu 37 9 35853548 35853548 + Missense_Mutation SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr9:35853548G>A ENST00000377988.2 + 13 2418 c.1130G>A c.(1129-1131)cGc>cAc p.R377H TMEM8B_ENST00000377991.4_Missense_Mutation_p.R377H NM_001042590.2 NP_001036055.1 A6NDV4 TMM8B_HUMAN transmembrane protein 8B 377 cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1) 7 CCCACGTGGCGCCGCTGGCTT 0.602000 28 7 0 0 1 0 0 C5 727 broad.mit.edu 37 9 123737191 123737191 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr9:123737191C>T ENST00000223642.1 - 30 3912 c.3883G>A c.(3883-3885)Gag>Aag p.E1295K NM_001735.2 NP_001726.2 P01031 CO5_HUMAN complement component 5 1295 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) GTCAGGCCCTCAATGGCATTG 0.378000 66 60 0 0 1 0 0 PALB2 79728 broad.mit.edu 37 16 23632744 23632744 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr16:23632744C>T ENST00000261584.4 - 10 3204 c.3052G>A c.(3052-3054)Gag>Aag p.E1018K CTD-2196E14.3_ENST00000561764.1_RNA NM_024675.3 NP_078951.2 Q86YC2 PALB2_HUMAN partner and localizer of BRCA2 1018 Interaction with RAD51 and BRCA2. double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3) 55 GBM - Glioblastoma multiforme(48;0.0167) CCTTGGACCTCAGCAAAAGTT 0.398000 """F, N, Mis""" """Wilms tumor, medulloblastoma, AML ,breast""" Involved in tolerance or repair of DNA crosslinks 18 60 0 0 1 0 0 FMO5 2330 broad.mit.edu 37 1 146680603 146680603 + Missense_Mutation SNP C C A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr1:146680603C>A ENST00000254090.4 - 6 1029 c.641G>T c.(640-642)aGc>aTc p.S214I FMO5_ENST00000465173.1_5'UTR|RP11-337C18.10_ENST00000606856.1_RNA|FMO5_ENST00000369272.3_Missense_Mutation_p.S214I|FMO5_ENST00000441068.2_Missense_Mutation_p.S214I|RP11-337C18.8_ENST00000607149.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA NM_001461.2 NP_001452.2 P49326 FMO5_HUMAN flavin containing monooxygenase 5 214 integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1) 25 all_hematologic(923;0.0487) TCTCCTGGTGCTGAGGAAAAC 0.448000 9 31 3.86212e-05 3.99047e-05 1 1 0 NUP214 8021 broad.mit.edu 37 9 134020058 134020058 + Silent SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr9:134020058G>A ENST00000359428.5 + 12 1830 c.1686G>A c.(1684-1686)gtG>gtA p.V562V RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|NUP214_ENST00000451030.1_Silent_p.V562V|RP11-544A12.4_ENST00000588378.1_RNA|NUP214_ENST00000411637.2_Silent_p.V562V|RP11-544A12.4_ENST00000587264.1_RNA P35658 NU214_HUMAN nucleoporin 214kDa 562 11 X 5 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) GCACACCAGTGCCAAGTGTGT 0.507000 T """DEK, SET, ABL1""" """AML, T-ALL""" 5 34 0 0 1 0 0 ZNF224 7767 broad.mit.edu 37 19 44612069 44612069 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr19:44612069C>T ENST00000336976.6 + 6 2010 c.1756C>T c.(1756-1758)Cat>Tat p.H586Y AC084219.4_ENST00000592946.1_RNA NM_013398.2 NP_037530.2 Q9NZL3 ZN224_HUMAN zinc finger protein 224 586 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 19 Prostate(69;0.0435) GCTTCATTCTCATCAAAGAGT 0.453000 50 93 0 0 1 0 0 ENPP1 5167 broad.mit.edu 37 6 132190591 132190591 + Missense_Mutation SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr6:132190591G>A ENST00000360971.2 + 13 1387 c.1367G>A c.(1366-1368)cGa>cAa p.R456Q NM_006208.2 NP_006199.2 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 1 456 Phosphodiesterase. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 46 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) CCTGCAGCTCGATTGAGACCC 0.353000 39 70 0 0 1 0 0 USP35 57558 broad.mit.edu 37 11 77916913 77916913 + Missense_Mutation SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr11:77916913G>A ENST00000529308.1 + 7 1484 c.1223G>A c.(1222-1224)cGc>cAc p.R408H USP35_ENST00000526425.1_Missense_Mutation_p.R139H|USP35_ENST00000441408.2_5'UTR|USP35_ENST00000530267.1_5'UTR|USP35_ENST00000530535.1_Intron NM_020798.2 NP_065849.1 Q9P2H5 UBP35_HUMAN ubiquitin specific peptidase 35 408 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity p.R408H(1)|p.R164H(1) endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1) 23 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) AATGAGGACCGCATCAAGCAG 0.582000 5 131 0 0 1 0 0 COL16A1 1307 broad.mit.edu 37 1 32146636 32146636 + Silent SNP G G T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr1:32146636G>T ENST00000373672.3 - 38 3087 c.2571C>A c.(2569-2571)ctC>ctA p.L857L COL16A1_ENST00000373668.3_Silent_p.L857L|COL16A1_ENST00000271069.6_Silent_p.L856L NM_001856.3 NP_001847.3 Q07092 COGA1_HUMAN collagen, type XVI, alpha 1 857 Triple-helical region 5 (COL5) with 3 imperfections. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4) 48 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) GTGTTCCTCTGAGTCCCGTCT 0.627000 16 18 1.45105e-14 1.60084e-14 1 1 0 NYNRIN 57523 broad.mit.edu 37 14 24885206 24885206 + Silent SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr14:24885206C>T ENST00000382554.3 + 9 4569 c.4251C>T c.(4249-4251)ctC>ctT p.L1417L NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1417 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 TTATATCCCTCACCTCTGGCC 0.612000 40 11 0 0 1 0 0 AHR 196 broad.mit.edu 37 7 17378626 17378626 + Missense_Mutation SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr7:17378626G>A ENST00000242057.4 + 10 1820 c.1177G>A c.(1177-1179)Gag>Aag p.E393K AHR_ENST00000492120.1_3'UTR NM_001621.4 NP_001612.1 P35869 AHR_HUMAN aryl hydrocarbon receptor 393 apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) GGAAGGAACAGAGCATTTACG 0.308000 41 99 0 0 1 0 0 DUSP9 1852 broad.mit.edu 37 X 152915712 152915712 + Missense_Mutation SNP C C G TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chrX:152915712C>G ENST00000342782.3 + 4 1372 c.1107C>G c.(1105-1107)ttC>ttG p.F369L DUSP9_ENST00000370167.4_Missense_Mutation_p.F369L Q99956 DUS9_HUMAN dual specificity phosphatase 9 369 Tyrosine-protein phosphatase. inactivation of MAPK activity|JNK cascade cytosol|endoplasmic reticulum|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGCCCTCCTTCTTCACCACCC 0.721000 19 29 0 0 1 0 0 LDLRAD3 143458 broad.mit.edu 37 11 36250845 36250845 + Silent SNP G G C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr11:36250845G>C ENST00000315571.5 + 6 957 c.936G>C c.(934-936)ctG>ctC p.L312L LDLRAD3_ENST00000528989.1_Silent_p.L263L|LDLRAD3_ENST00000524419.1_Silent_p.L302L NM_174902.2 NP_777562.1 Q86YD5 LRAD3_HUMAN low density lipoprotein receptor class A domain containing 3 312 integral to membrane receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1) 28 all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177) all_hematologic(20;0.124) GCAGCCTCCTGAGCGTGGAAG 0.667000 67 15 0 0 1 0 0 ZNF774 342132 broad.mit.edu 37 15 90903711 90903711 + Missense_Mutation SNP C C A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr15:90903711C>A ENST00000354377.3 + 4 834 c.648C>A c.(646-648)ttC>ttA p.F216L ZNF774_ENST00000379090.5_Intron NM_001004309.2 NP_001004309.2 Q6NX45 ZN774_HUMAN zinc finger protein 774 216 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1) 14 Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331) BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) AGAAGAAATTCAGCGACAGCT 0.522000 27 14 3.1745e-13 3.46862e-13 1 1 0 ZDHHC14 79683 broad.mit.edu 37 6 158014053 158014053 + Missense_Mutation SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr6:158014053G>A ENST00000359775.5 + 3 1329 c.440G>A c.(439-441)cGc>cAc p.R147H ZDHHC14_ENST00000414563.2_Missense_Mutation_p.R147H|ZDHHC14_ENST00000341375.8_3'UTR Q8IZN3 ZDH14_HUMAN zinc finger, DHHC-type containing 14 147 integral to membrane acyltransferase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 17 Breast(66;0.00586)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05) GGGGGGTACCGCCCGCCTCCC 0.567000 14 71 0 0 1 0 0 DICER1 23405 broad.mit.edu 37 14 95562265 95562265 + Silent SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr14:95562265C>T ENST00000526495.1 - 25 5283 c.4992G>A c.(4990-4992)tcG>tcA p.S1664S DICER1_ENST00000541352.1_Silent_p.S1664S|DICER1_ENST00000393063.1_Silent_p.S1664S|DICER1_ENST00000527414.1_Silent_p.S1664S|DICER1_ENST00000343455.3_Silent_p.S1664S|DICER1_ENST00000556045.1_Silent_p.S562S Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 1664 negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) TTTCAAACCCCGATATAAGGT 0.363000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 4 89 0 0 1 0 0 SRRM4 84530 broad.mit.edu 37 12 119419724 119419724 + Missense_Mutation SNP G G C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr12:119419724G>C ENST00000267260.4 + 1 425 c.37G>C c.(37-39)Gag>Cag p.E13Q NM_194286.3 NP_919262.2 A7MD48 SRRM4_HUMAN serine/arginine repetitive matrix 4 13 cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 24 GCAGCTTTTTGAGAAGTTCTG 0.607000 11 16 0 0 1 0 0 DRAM2 128338 broad.mit.edu 37 1 111660814 111660814 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr1:111660814C>T ENST00000286692.4 - 9 1386 c.769G>A c.(769-771)Gaa>Aaa p.E257K DRAM2_ENST00000539140.1_Missense_Mutation_p.E257K|DRAM2_ENST00000484310.1_5'UTR Q6UX65 DRAM2_HUMAN DNA-damage regulated autophagy modulator 2 257 apoptosis|induction of apoptosis Golgi apparatus|integral to membrane|lysosomal membrane endometrium(1)|large_intestine(5)|lung(3) 9 CGTGTTCGTTCATTGTTAATA 0.363000 34 58 0 0 1 0 0 ADORA3 140 broad.mit.edu 37 1 112043173 112043173 + Missense_Mutation SNP T T C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr1:112043173T>C ENST00000241356.4 - 2 761 c.356A>G c.(355-357)aAg>aGg p.K119R ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Intron|ADORA3_ENST00000486342.1_5'UTR NM_000677.3 NP_000668.1 P33765 AA3R_HUMAN adenosine A3 receptor 119 activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction integral to plasma membrane adenosine receptor activity, G-protein coupled NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1) 12 all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156) all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134) Adenosine(DB00640)|Aminophylline(DB01223) GGTGACCCTCTTGTATCTGTG 0.502000 40 47 0 0 1 0 0 MYO7A 4647 broad.mit.edu 37 11 76877197 76877197 + Missense_Mutation SNP G G C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr11:76877197G>C ENST00000409709.3 + 15 2058 c.1786G>C c.(1786-1788)Gat>Cat p.D596H MYO7A_ENST00000409619.2_Missense_Mutation_p.D585H|MYO7A_ENST00000409893.1_Missense_Mutation_p.D596H|MYO7A_ENST00000458637.2_Missense_Mutation_p.D596H NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 596 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 CTTCCAGGCCGATGTCGCCAT 0.587000 16 19 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 102984333 102984333 + Missense_Mutation SNP A A T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr11:102984333A>T ENST00000375735.2 + 2 407 c.263A>T c.(262-264)gAt>gTt p.D88V DYNC2H1_ENST00000334267.7_Missense_Mutation_p.D88V|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.D88V NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 88 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) GTAATTACTGATGAGAATCTA 0.343000 33 52 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27088787 27088788 + Frame_Shift_Ins INS - - GG TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr1:27088787_27088788insGG ENST00000324856.7 + 7 2767_2768 c.2396_2397insGG c.(2395-2400)caggggfs p.QG799fs ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.QG416fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.QG799fs NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 799 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TATGGTCCCCAGGGGGGTCAGT 0.554 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 17 36 --- --- --- --- CHIAP2 149620 broad.mit.edu 37 1 111825531 111825532 + RNA INS - - T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr1:111825531_111825532insT ENST00000369743.4 + 0 1147 NR_003928.1 GGTTAATTTAATTCAGTGTCAT 0.401 4 6 --- --- --- --- UBE2T 29089 broad.mit.edu 37 1 202302605 202302614 + Frame_Shift_Del DEL ACAAATCCTT ACAAATCCTT - TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr1:202302605_202302614delACAAATCCTT ENST00000367274.4 - 4 398_407 c.249_258delAAGGATTTGT c.(247-258)ggaaggatttgtfs p.GRIC83fs NM_014176.3 NP_054895.1 Q9NPD8 UBE2T_HUMAN ubiquitin-conjugating enzyme E2T (putative) 83 DNA repair|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination nucleoplasm ATP binding|ubiquitin-protein ligase activity large_intestine(1)|lung(3)|skin(1) 5 GAACATCCAGACAAATCCTTCCAGCAGAAT 0.367 9 70 --- --- --- --- ASXL2 55252 broad.mit.edu 37 2 26022304 26022306 + In_Frame_Del DEL CTG CTG - TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr2:26022304_26022306delCTG ENST00000435504.4 - 5 644_646 c.351_353delCAG c.(349-354)agcagt>agt p.117_118SS>S ASXL2_ENST00000336112.4_In_Frame_Del_p.89_90SS>S|ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 117 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCACCATCACTGCTGCTGCTGC 0.463 7 198 --- --- --- --- ATG4B 23192 broad.mit.edu 37 2 242610144 242610144 + Frame_Shift_Del DEL T T - TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr2:242610144delT ENST00000405546.3 + 11 1463 c.961delT c.(961-963)tttfs p.F322fs ATG4B_ENST00000404914.3_Frame_Shift_Del_p.F322fs|ATG4B_ENST00000396411.3_Frame_Shift_Del_p.F248fs|ATG4B_ENST00000474739.2_Frame_Shift_Del_p.F308fs|ATG4B_ENST00000402096.1_Frame_Shift_Del_p.F248fs Q9Y4P1 ATG4B_HUMAN autophagy related 4B, cysteine peptidase 322 autophagic vacuole assembly|protein transport|proteolysis cytoplasm cysteine-type peptidase activity|protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848) GTTTTAGGGGTTTTTCTGTAA 0.552 2 4 --- --- --- --- C9orf139 401563 broad.mit.edu 37 9 139927526 139927526 + Frame_Shift_Del DEL G G - rs146351195 byFrequency TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr9:139927526delG ENST00000314330.2 + 2 1525 c.11delG c.(10-12)cggfs p.R4fs NM_207511.1 NP_997394.1 Q6ZV77 CI139_HUMAN chromosome 9 open reading frame 139 4 cervix(1)|lung(2) 3 all_cancers(76;0.0893) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493) ATGGCCCTGCGGGGTCACCCT 0.662 18 52 --- --- --- --- TBC1D12 23232 broad.mit.edu 37 10 96162370 96162373 + Translation_Start_Site DEL GATG GATG - TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr10:96162370_96162373delGATG ENST00000225235.4 + 0 110_113 NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) CCCACCCCCAGATGGTGGGTCCGG 0.701 10 12 --- --- --- --- DYRK4 8798 broad.mit.edu 37 12 4708892 4708892 + Frame_Shift_Del DEL A A - TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr12:4708892delA ENST00000540757.2 + 8 879 c.719delA c.(718-720)caafs p.Q240fs DYRK4_ENST00000010132.5_Frame_Shift_Del_p.Q240fs|DYRK4_ENST00000543431.1_Frame_Shift_Del_p.Q240fs NM_001282285.1|NM_001282286.1|NM_003845.1 NP_001269214.1|NP_001269215.1|NP_003836.1 Q9NR20 DYRK4_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 240 Protein kinase. Golgi apparatus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 Colorectal(7;0.103) GTGCTATACCAAAAGGGCCAA 0.438 22 46 --- --- --- --- PPP2R5C 5527 broad.mit.edu 37 14 102372770 102372777 + Frame_Shift_Del DEL ATGAATAC ATGAATAC - TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr14:102372770_102372777delATGAATAC ENST00000422945.2 + 12 1244_1251 c.1148_1155delATGAATAC c.(1147-1155)aatgaatacfs p.NEY383fs PPP2R5C_ENST00000557095.1_Frame_Shift_Del_p.NEY352fs|PPP2R5C_ENST00000350249.3_Frame_Shift_Del_p.NEY352fs|PPP2R5C_ENST00000334743.5_Frame_Shift_Del_p.NEY352fs|PPP2R5C_ENST00000445439.3_Frame_Shift_Del_p.NEY352fs|PPP2R5C_ENST00000328724.5_Frame_Shift_Del_p.NEY407fs NM_001161725.1 NP_001155197.1 Q13362 2A5G_HUMAN protein phosphatase 2, regulatory subunit B', gamma 352 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction chromosome, centromeric region|nucleus|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 TACTGGAATAATGAATACATCATGAGTT 0.457 17 93 --- --- --- --- TJP1 7082 broad.mit.edu 37 15 30058469 30058471 + Splice_Site DEL CTT CTT - TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr15:30058469_30058471delCTT ENST00000346128.6 - 5 1061_1063 c.587_589delAAG c.(586-591)gaagaa>gaa p.196_197EE>E TJP1_ENST00000400011.2_Splice_Site_p.200_201EE>E|TJP1_ENST00000356107.6_Splice_Site_p.196_197EE>E|TJP1_ENST00000545208.2_Splice_Site_p.196_197EE>E|TJP1_ENST00000495972.2_Splice_Site_p.196_197EE>E NM_003257.3|NM_175610.2 NP_003248.3|NP_783297.2 Q07157 ZO1_HUMAN tight junction protein 1 196 PDZ 2. cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) CAGAGAATACCTTCATTTTTCCG 0.433 8 61 --- --- --- --- ULK4P3 89837 broad.mit.edu 37 15 30406088 30406089 + RNA INS - - T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr15:30406088_30406089insT ENST00000568486.1 + 0 402 NR_026859.1 TGCCTCAAAAGTTTTTTTTTTT 0.297 11 24 --- --- --- --- RP11-160E2.17 0 broad.mit.edu 37 17 18988562 18988562 + RNA DEL T T - TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr17:18988562delT ENST00000442355.2 + 0 272 CTGATGTGTGTTTTTTTTTTT 0.279 2 4 --- --- --- --- NCOR1P1 149934 broad.mit.edu 37 20 26084428 26084428 + RNA DEL C C - TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chr20:26084428delC ENST00000478176.1 - 0 150 NR_003678.1 TCTAATGAAACCTTTAGTAGT 0.313 4 9 --- --- --- --- RNF128 79589 broad.mit.edu 37 X 106034389 106034390 + Frame_Shift_Ins INS - - A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d7f54ff-5587-430f-ac18-78d6ae8e2a88 52d67666-5860-4b42-9a85-fa67701df2fe g.chrX:106034389_106034390insA ENST00000255499.2 + 6 1328_1329 c.1078_1079insA c.(1078-1080)gagfs p.E360fs RNF128_ENST00000324342.3_Frame_Shift_Ins_p.E334fs NM_194463.1 NP_919445.1 Q8TEB7 RN128_HUMAN ring finger protein 128, E3 ubiquitin protein ligase 360 endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1) 11 TAATCGCAGCGAGACCGCATCA 0.441 28 160 --- --- --- ---