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 RTCB 51493 broad.mit.edu 37 22 32804799 32804799 + Missense_Mutation SNP T T C TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr22:32804799T>C ENST00000216038.5 - 2 213 c.115A>G c.(115-117)Aat>Gat p.N39D RTCB_ENST00000451746.2_Missense_Mutation_p.N39D NM_014306.4 NP_055121.1 RNA 2',3'-cyclic phosphate and 5'-OH ligase AGAGCATCATTCACATAGAAA 0.438000 3 60 0 0 1 0 0 CFHR5 81494 broad.mit.edu 37 1 196973838 196973838 + Missense_Mutation SNP A A G TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr1:196973838A>G ENST00000367414.5 + 9 1506 c.1450A>G c.(1450-1452)Acc>Gcc p.T484A CFHR5_ENST00000256785.4_Missense_Mutation_p.T460A NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 460 Sushi 8. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 CAATGGAGATACCACCTCATT 0.408000 35 63 0 0 1 0 0 UPK1B 7348 broad.mit.edu 37 3 118909856 118909856 + Missense_Mutation SNP A A G rs147312682 TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr3:118909856A>G ENST00000264234.3 + 5 522 c.373A>G c.(373-375)Atg>Gtg p.M125V UPK1B_ENST00000460625.1_Missense_Mutation_p.M117V|UPK1B_ENST00000497685.1_Missense_Mutation_p.M45V NM_006952.3 NP_008883.2 O75841 UPK1B_HUMAN uroplakin 1B 125 epithelial cell differentiation integral to membrane structural molecule activity breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1) 14 GBM - Glioblastoma multiforme(114;0.222) CCTGAAGCAGATGCTAGAGAG 0.453000 13 405 0 0 1 0 0 PACS1 55690 broad.mit.edu 37 11 65838061 65838061 + Missense_Mutation SNP A A C TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr11:65838061A>C ENST00000320580.4 + 1 137 c.104A>C c.(103-105)cAg>cCg p.Q35P NM_018026.3 NP_060496.2 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 35 Gly-rich.|Poly-Gln. interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding RBM14/PACS1(2) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1) 37 ccgccgccgcagcagcagcag 0.796000 2 3 0 0 1 0 0 ODF2L 57489 broad.mit.edu 37 1 86826179 86826179 + Missense_Mutation SNP T T C TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr1:86826179T>C ENST00000359242.3 - 12 1465 c.1184A>G c.(1183-1185)gAa>gGa p.E395G ODF2L_ENST00000394731.1_Missense_Mutation_p.E235G|ODF2L_ENST00000294678.2_Missense_Mutation_p.E366G|ODF2L_ENST00000370567.1_Missense_Mutation_p.E366G|ODF2L_ENST00000370566.3_Missense_Mutation_p.E366G|ODF2L_ENST00000317336.7_Missense_Mutation_p.E395G|ODF2L_ENST00000524695.1_5'UTR NM_001007022.2 NP_001007023.2 Q9ULJ1 ODF2L_HUMAN outer dense fiber of sperm tails 2-like 395 centrosome endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 24 all cancers(265;0.0313)|Epithelial(280;0.0611) GAGTTCATTTTCAACAGATAC 0.303000 13 16 0 0 1 0 0 GUCY2F 2986 broad.mit.edu 37 X 108719067 108719067 + Silent SNP C C A TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chrX:108719067C>A ENST00000218006.2 - 2 390 c.99G>T c.(97-99)ctG>ctT p.L33L NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 33 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 ACAAGCACCACAGGAACTTGG 0.567000 OREG0019905 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 44 54 1.62957e-23 1.702e-23 1 1 0 ZNF518B 85460 broad.mit.edu 37 4 10445618 10445618 + Missense_Mutation SNP T T C TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr4:10445618T>C ENST00000326756.3 - 3 2773 c.2335A>G c.(2335-2337)Agg>Ggg p.R779G NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 779 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 TTAAGAACCCTCAACACAGCC 0.473000 20 45 0 0 1 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29414470 29414470 + Missense_Mutation SNP A A C TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chrX:29414470A>C ENST00000378993.1 + 4 1131 c.458A>C c.(457-459)aAa>aCa p.K153T IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.K153T NM_014271.3 NP_055086.1 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 153 Ig-like C2-type 2. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 TATTTTGAAAAAGCTGAACTT 0.393000 6 97 0 0 1 0 0 CTBP1 1487 broad.mit.edu 37 4 1206203 1206203 + Missense_Mutation SNP G G A TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr4:1206203G>A ENST00000382952.3 - 10 1499 c.1115C>T c.(1114-1116)cCg>cTg p.P372L CTBP1_ENST00000290921.6_Missense_Mutation_p.P383L NM_001012614.1 NP_001012632.1 Q13363 CTBP1_HUMAN C-terminal binding protein 1 383 interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation cytoplasm|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1) 8 OV - Ovarian serous cystadenocarcinoma(23;0.00818) Colorectal(103;0.2) CACCACGCCCGGAGGGTACCT 0.721000 4 2 0 0 1 0 0 SYNPO2L 79933 broad.mit.edu 37 10 75406859 75406859 + Missense_Mutation SNP G G A TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr10:75406859G>A ENST00000394810.2 - 4 2700 c.2551C>T c.(2551-2553)Cgg>Tgg p.R851W SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R627W NM_001114133.1 NP_001107605.1 Q9H987 SYP2L_HUMAN synaptopodin 2-like 851 Pro-rich. cytoplasm|cytoskeleton actin binding p.R627W(2)|p.R851W(1) breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Prostate(51;0.0112) GGCTGATGCCGCATAAAATCT 0.577000 4 122 0 0 1 0 0 RET 5979 broad.mit.edu 37 10 43619143 43619143 + Nonsense_Mutation SNP G G A TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr10:43619143G>A ENST00000355710.3 + 17 3058 c.2826G>A c.(2824-2826)tgG>tgA p.W942* RET_ENST00000340058.5_Nonsense_Mutation_p.W942* NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 942 Protein kinase. homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) TCCTGCTGTGGGAGATCGTGA 0.602000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 4 170 0 0 1 0 0 RBFOX2 23543 broad.mit.edu 37 22 36177682 36177682 + Missense_Mutation SNP G G A TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr22:36177682G>A ENST00000405409.2 - 3 732 c.364C>T c.(364-366)Cgc>Tgc p.R122C RBFOX2_ENST00000416721.2_Missense_Mutation_p.R121C|RBFOX2_ENST00000414461.2_Missense_Mutation_p.R121C|RBFOX2_ENST00000262829.7_Missense_Mutation_p.R121C|RBFOX2_ENST00000359369.4_Missense_Mutation_p.R101C|RBFOX2_ENST00000397303.2_Missense_Mutation_p.R102C|RBFOX2_ENST00000449924.2_Missense_Mutation_p.R121C|RBFOX2_ENST00000438146.2_Missense_Mutation_p.R192C NM_001031695.2|NM_001082576.1|NM_001082577.1|NM_014309.2 NP_001026865.1|NP_001076045.1|NP_001076046.1|NP_055124.1 O43251 RFOX2_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 2 131 RRM. Interaction with RNA (By similarity). estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing cytoplasm|nucleus nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding endometrium(4)|large_intestine(7)|lung(7) 18 TCCCGGAAGCGGAAAGGAATA 0.448000 5 267 0 0 1 0 0 TMEM86A 144110 broad.mit.edu 37 11 18723300 18723300 + Missense_Mutation SNP T T G TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr11:18723300T>G ENST00000280734.2 + 3 563 c.467T>G c.(466-468)tTc>tGc p.F156C NM_153347.1 NP_699178.1 Q8N2M4 TM86A_HUMAN transmembrane protein 86A 156 integral to membrane endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2) 11 CTTATCGGCTTCATGGGCTGG 0.627000 13 19 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41513608 41513608 + Missense_Mutation SNP C C T TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr22:41513608C>T ENST00000263253.7 + 2 1731 c.512C>T c.(511-513)gCg>gTg p.A171V NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 171 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 GGGATGAATGCGGGCATGAAT 0.502000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 3 50 0 0 1 0 0 NEK1 4750 broad.mit.edu 37 4 170476964 170476964 + Missense_Mutation SNP C C T TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr4:170476964C>T ENST00000439128.2 - 17 2109 c.1469G>A c.(1468-1470)gGg>gAg p.G490E NEK1_ENST00000507142.1_Missense_Mutation_p.G490E|NEK1_ENST00000511633.1_Intron|NEK1_ENST00000512193.1_Intron|NEK1_ENST00000510533.1_Intron NM_012224.2 NP_036356.1 Q96PY6 NEK1_HUMAN NIMA-related kinase 1 490 cell division|cilium assembly|mitosis nucleus|pericentriolar material ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1) 45 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14) ACCTGCAGCCCCATAAGGAAA 0.413000 21 47 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 7 50 0 0 1 0 0 OR2M3 127062 broad.mit.edu 37 1 248366669 248366669 + Silent SNP A A G TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr1:248366669A>G ENST00000456743.1 + 1 338 c.300A>G c.(298-300)caA>caG p.Q100Q NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 100 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GTGCCACACAAATTTTCTTCT 0.488000 35 290 0 0 1 0 0 CHD9 80205 broad.mit.edu 37 16 53276924 53276924 + Missense_Mutation SNP A A G TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr16:53276924A>G ENST00000566029.1 + 13 3259 c.3050A>G c.(3049-3051)aAt>aGt p.N1017S CHD9_ENST00000398510.3_Missense_Mutation_p.N1017S|CHD9_ENST00000447540.1_Missense_Mutation_p.N1017S|CHD9_ENST00000564845.1_Missense_Mutation_p.N1017S Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 1017 Helicase ATP-binding. cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) AAACTCATGAATCTGGTAAGT 0.279000 3 57 0 0 1 0 0 CPZ 8532 broad.mit.edu 37 4 8616093 8616093 + Silent SNP C C T TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr4:8616093C>T ENST00000429646.2 + 7 2988 c.195C>T c.(193-195)tcC>tcT p.S65S CPZ_ENST00000382480.2_Silent_p.S320S|CPZ_ENST00000315782.6_Silent_p.S446S|CPZ_ENST00000360986.4_Silent_p.S457S Q66K79 CBPZ_HUMAN carboxypeptidase Z 457 FZ. proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 CAGGCATGTCCGATTTCAACT 0.612000 33 29 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 17 37 0 0 1 0 0 KCNAB1 7881 broad.mit.edu 37 3 155860969 155860969 + Translation_Start_Site SNP T T C TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr3:155860969T>C ENST00000471742.1 + 1 219 c.2T>C c.(1-3)aTg>aCg p.M1T KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000490337.1_Intron NM_003471.3 NP_003462.2 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 1 0 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) TTTTGAAACATGCATCTGTAT 0.458000 9 16 0 0 1 0 0 OLFM4 10562 broad.mit.edu 37 13 53603147 53603147 + Missense_Mutation SNP G G A TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr13:53603147G>A ENST00000219022.2 + 1 254 c.176G>A c.(175-177)aGc>aAc p.S59N NM_006418.4 NP_006409.3 Q6UX06 OLFM4_HUMAN olfactomedin 4 59 Ser-rich. cell adhesion extracellular space breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1) 39 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) tccagccgcagcTTAGGCAGC 0.572000 27 72 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 101 0 0 1 0 0 ATP10B 23120 broad.mit.edu 37 5 160061405 160061405 + Missense_Mutation SNP C C T TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr5:160061405C>T ENST00000327245.5 - 12 2183 c.1337G>A c.(1336-1338)cGa>cAa p.R446Q CTC-348L5.1_ENST00000523598.1_RNA NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 446 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGTGCAACGTCGGAACACCAT 0.502000 24 78 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79322596 79322596 + Missense_Mutation SNP C C T TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr9:79322596C>T ENST00000428286.1 - 8 4717 c.3517G>A c.(3517-3519)Gac>Aac p.D1173N PRUNE2_ENST00000376718.3_Missense_Mutation_p.D1532N Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1532 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 GTATCTCTGTCAAAATTTCCA 0.448000 4 11 0 0 1 0 0 WDR31 114987 broad.mit.edu 37 9 116080790 116080790 + Missense_Mutation SNP T T A TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr9:116080790T>A ENST00000374193.4 - 10 1154 c.908A>T c.(907-909)gAt>gTt p.D303V WDR31_ENST00000341761.4_Missense_Mutation_p.D302V|WDR31_ENST00000374195.3_Missense_Mutation_p.D178V|WDR31_ENST00000461942.1_5'UTR NM_001012361.2|NM_145241.3 NP_001012361.1|NP_660284.1 Q8NA23 WDR31_HUMAN WD repeat domain 31 303 NS(1)|large_intestine(1)|lung(2)|prostate(2) 6 CACCTTGCAATCATGTGATGA 0.423000 16 73 0 0 1 0 0 RHOT1 55288 broad.mit.edu 37 17 30534025 30534025 + Missense_Mutation SNP G G A TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr17:30534025G>A ENST00000358365.3 + 17 1740 c.1513G>A c.(1513-1515)Gaa>Aaa p.E505K RHOT1_ENST00000545287.2_Missense_Mutation_p.E505K|RHOT1_ENST00000394692.2_Missense_Mutation_p.E505K|RHOT1_ENST00000354266.3_Missense_Mutation_p.E484K|RHOT1_ENST00000333942.6_Missense_Mutation_p.E505K|RHOT1_ENST00000581094.1_Missense_Mutation_p.E505K|RHOT1_ENST00000583994.1_Missense_Mutation_p.E378K NM_001033568.1 NP_001028740.1 Q8IXI2 MIRO1_HUMAN ras homolog family member T1 505 Miro 2. apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane calcium ion binding|GTP binding|GTPase activity|protein binding p.E505Q(1) NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182) CAAATCCTTTGAATACTGTGC 0.373000 37 75 0 0 1 0 0 SHROOM4 57477 broad.mit.edu 37 X 50377747 50377747 + Silent SNP C C A TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chrX:50377747C>A ENST00000376020.2 - 4 1351 c.1326G>T c.(1324-1326)ggG>ggT p.G442G SHROOM4_ENST00000289292.7_Silent_p.G442G|SHROOM4_ENST00000460112.3_Silent_p.G326G NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 442 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) TCCACTGGTGCCCATCCTGTA 0.577000 19 35 8.34094e-07 8.34094e-07 1 1 0 ARHGEF15 22899 broad.mit.edu 37 17 8215685 8215685 + Missense_Mutation SNP C C T TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr17:8215685C>T ENST00000361926.3 + 2 438 c.328C>T c.(328-330)Cca>Tca p.P110S ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P110S NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 110 Pro-rich. negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity p.P110T(1) breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 CTCCGCCTCCCCAGAACCTGC 0.672000 4 158 0 0 1 0 0 PRPF19 27339 broad.mit.edu 37 11 60665317 60665317 + Splice_Site SNP C C G TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr11:60665317C>G ENST00000227524.4 - 15 1623 c.e15+1 NM_014502.4 NP_055317.1 Q9UMS4 PRP19_HUMAN pre-mRNA processing factor 19 DNA repair|protein polyubiquitination|spliceosome assembly catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 22 CCAGCCTCTACCTGTAAAGTG 0.527000 3 92 0 0 1 0 0 CYP4F11 57834 broad.mit.edu 37 19 16040277 16040277 + Silent SNP G G A TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr19:16040277G>A ENST00000326742.7 - 2 334 c.333C>T c.(331-333)acC>acT p.T111T CYP4F11_ENST00000248041.7_Silent_p.T111T|CYP4F11_ENST00000402119.3_Silent_p.T111T Q9HBI6 CP4FB_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 11 111 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 CTGAGGCACTGGTGATAGGCC 0.582000 61 101 0 0 1 0 0 SORCS2 57537 broad.mit.edu 37 4 7533275 7533275 + Silent SNP G G A TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr4:7533275G>A ENST00000507866.2 + 3 676 c.567G>A c.(565-567)acG>acA p.T189T SORCS2_ENST00000329016.9_Silent_p.T17T|SORCS2_ENST00000511199.1_3'UTR NM_020777.2 NP_065828.2 Q96PQ0 SORC2_HUMAN sortilin-related VPS10 domain containing receptor 2 189 integral to membrane neuropeptide receptor activity p.T39T(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 42 ATTTCGGGACGTCCTACACCA 0.602000 7 13 0 0 1 0 0 PSMA2 5683 broad.mit.edu 37 7 42966160 42966160 + Missense_Mutation SNP A A G TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr7:42966160A>G ENST00000442788.1 - 3 241 c.226T>C c.(226-228)Tac>Cac p.Y76H PSMA2_ENST00000223321.4_Missense_Mutation_p.Y76H|PSMA2_ENST00000445517.1_Intron|PSMA2_ENST00000538645.1_5'UTR P25787 PSA2_HUMAN proteasome (prosome, macropain) subunit, alpha type, 2 76 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|response to virus|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex protein binding|threonine-type endopeptidase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2) 10 ATGCCACTGTACACCAAACCT 0.373000 3 45 0 0 1 0 0 SNHG14 0 broad.mit.edu 37 15 25475834 25475834 + RNA SNP G G A TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr15:25475834G>A ENST00000453082.2 + 0 1429 NR_003343.1 GACTTCTGTCGGCCTCGCTTT 0.617000 3 24 0 0 1 0 0 WDR66 144406 broad.mit.edu 37 12 122396945 122396945 + Missense_Mutation SNP G G T TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr12:122396945G>T ENST00000288912.4 + 13 2932 c.2078G>T c.(2077-2079)aGa>aTa p.R693I WDR66_ENST00000397454.2_Missense_Mutation_p.R693I NM_144668.5 NP_653269.3 Q8TBY9 WDR66_HUMAN WD repeat domain 66 693 calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) AAATATTCCAGAACCAGTGTG 0.423000 8 152 1.06961e-07 1.09287e-07 1 1 0 ETNPPL 64850 broad.mit.edu 37 4 109675776 109675776 + Splice_Site SNP C C G TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr4:109675776C>G ENST00000296486.3 - 5 655 c.501_splice c.e5+1 p.V167_splice ETNPPL_ENST00000411864.2_Splice_Site_p.V161_splice|ETNPPL_ENST00000512646.1_Splice_Site_p.V109_splice|ETNPPL_ENST00000510706.1_Splice_Site_p.V127_splice NM_001146590.1|NM_031279.3 NP_001140062.1|NP_112569.2 ethanolamine-phosphate phospho-lyase AGACACTTACCACATGTACAA 0.348000 9 26 0 0 1 0 0 COL6A2 0 broad.mit.edu 37 21 47545900 47545900 + Missense_Mutation SNP G G A rs145450812 TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr21:47545900G>A ENST00000300527.4 + 26 2275 c.2171G>A c.(2170-2172)cGt>cAt p.R724H COL6A2_ENST00000357838.4_Missense_Mutation_p.R724H|COL6A2_ENST00000397763.1_Missense_Mutation_p.R724H|COL6A2_ENST00000310645.5_Missense_Mutation_p.R724H|COL6A2_ENST00000409416.1_Missense_Mutation_p.R724H NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 724 Nonhelical region.|VWFA 2. R -> C. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) CAGAAGACACGTGTGTTTGCG 0.642000 15 61 0 0 1 0 0 IKBKG 8517 broad.mit.edu 37 X 153780226 153780226 + Silent SNP G G A TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chrX:153780226G>A ENST00000393549.2 + 2 132 c.9G>A c.(7-9)agG>agA p.R3R IKBKG_ENST00000369606.4_Silent_p.R3R|IKBKG_ENST00000470142.1_Silent_p.R3R|IKBKG_ENST00000455588.2_Silent_p.R3R|IKBKG_ENST00000369602.3_Silent_p.R3R|IKBKG_ENST00000263518.6_Silent_p.R3R|IKBKG_ENST00000369609.5_Silent_p.R71R|IKBKG_ENST00000369607.1_Silent_p.R3R|IKBKG_ENST00000369601.3_Silent_p.R3R Q9Y6K9 NEMO_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma 3 activation of MAPK activity|induction of apoptosis|innate immune response|interspecies interaction between organisms|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent cytosol|nucleus metal ion binding|protein domain specific binding|signal transducer activity endometrium(1)|lung(1) 2 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GGATGAATAGGCACCTCTGGA 0.577000 12 177 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55984889 55984889 + Silent SNP G G A rs141577956 by1000genomes TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr4:55984889G>A ENST00000263923.4 - 3 535 c.240C>T c.(238-240)agC>agT p.S80S NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 80 Ig-like C2-type 1. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) AGAGGCCATCGCTGCACTCAG 0.502000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 11 49 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170027173 170027173 + Silent SNP G G A TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr2:170027173G>A ENST00000263816.3 - 59 11553 c.11268C>T c.(11266-11268)ccC>ccT p.P3756P NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 3756 LDL-receptor class A 31. 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) TGCACTCCCGGGGAGCTGGAA 0.552000 29 38 0 0 1 0 0 LINC00359 0 broad.mit.edu 37 13 97600364 97600364 + RNA SNP C C T TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr13:97600364C>T ENST00000442322.1 - 0 153 CTTCTTTTTCCAAGTATATAC 0.403000 5 6 0 0 1 0 0 RPL32P3 0 broad.mit.edu 37 3 129116038 129116038 + RNA SNP C C T TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr3:129116038C>T ENST00000514355.1 - 0 412 lung(1) 1 GAGGCTTTCCCGCCCAGGGAC 0.567000 4 105 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 6 58 0 0 1 0 0 SLC30A6 55676 broad.mit.edu 37 2 32445757 32445757 + Missense_Mutation SNP A A G TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr2:32445757A>G ENST00000282587.5 + 14 1398 c.1361A>G c.(1360-1362)aAt>aGt p.N454S SLC30A6_ENST00000357055.3_Missense_Mutation_p.N257S|SLC30A6_ENST00000538303.1_Missense_Mutation_p.N425S|SLC30A6_ENST00000435660.1_Missense_Mutation_p.N431S|SLC30A6_ENST00000379343.2_Missense_Mutation_p.N494S|SLC30A6_ENST00000406369.1_Missense_Mutation_p.N380S NM_017964.3 NP_060434.2 Q6NXT4 ZNT6_HUMAN solute carrier family 30 (zinc transporter), member 6 454 N -> S (in Ref. 4; AAH66903). Golgi membrane|integral to membrane zinc ion transmembrane transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) GGAACTAATAATAGAATTGGA 0.353000 5 48 0 0 1 0 0 FUBP1 8880 broad.mit.edu 37 1 78433848 78433851 + Splice_Site DEL CAGT CAGT - TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr1:78433848_78433851delCAGT ENST00000370767.1 - 3 335_338 c.250_splice c.e3+1 p.83_splice FUBP1_ENST00000370768.2_Splice_Site_p.83_splice|FUBP1_ENST00000436586.2_Splice_Site_p.104_splice Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 83 transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding p.?(1) central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 GGAATACTTACAGTCATTTTGAGG 0.319 """F, N""" oligodendroglioma 16 16 --- --- --- --- EXOG 9941 broad.mit.edu 37 3 38548446 38548449 + Frame_Shift_Del DEL TAGT TAGT - TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr3:38548446_38548449delTAGT ENST00000287675.5 + 5 728_731 c.632_635delTAGT c.(631-636)atfs p.IV211fs EXOG_ENST00000422077.2_Frame_Shift_Del_p.IV161fs|EXOG_ENST00000358249.2_Frame_Shift_Del_p.IV71fs NM_005107.3 NP_005098.2 Q9Y2C4 EXOG_HUMAN endo/exonuclease (5'-3'), endonuclease G-like 211 mitochondrial inner membrane endonuclease activity|metal ion binding|nucleic acid binding central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 17 GGAAAGAAAATAGTTAGTTACCAG 0.353 11 46 --- --- --- --- C5orf42 65250 broad.mit.edu 37 5 37154027 37154030 + Frame_Shift_Del DEL ATAG ATAG - TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr5:37154027_37154030delATAG ENST00000274258.7 - 41 8304_8307 c.4717_4720delCTAT c.(4717-4722)tgfs p.LL1573fs C5orf42_ENST00000508244.1_Frame_Shift_Del_p.LL2675fs|C5orf42_ENST00000425232.2_Frame_Shift_Del_p.LL2675fs E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 2675 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) CGTTTCCACAATAGATAATCTTCT 0.431 23 53 --- --- --- --- HLA-DRB6 0 broad.mit.edu 37 6 32523362 32523363 + RNA INS - - GATA rs142676080 by1000genomes TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr6:32523362_32523363insGATA ENST00000411500.1 - 0 458 NR_001298.1 AAAGCAATGTGGATAAAGGGAC 0.431 3 6 --- --- --- --- ADAT2 134637 broad.mit.edu 37 6 143771733 143771735 + In_Frame_Del DEL CTC CTC - TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr6:143771733_143771735delCTC ENST00000237283.8 - 1 75_77 c.61_63delGAG c.(61-63)del p.E21del ADAT2_ENST00000367593.1_5'UTR NM_182503.2 NP_872309.2 Q7Z6V5 ADAT2_HUMAN adenosine deaminase, tRNA-specific 2 21 tRNA processing hydrolase activity|zinc ion binding endometrium(2)|large_intestine(3)|lung(3) 8 OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115) ACTTTTCGGTCTCCTCTGCCGAC 0.665 43 177 --- --- --- --- LATS1 9113 broad.mit.edu 37 6 150001374 150001376 + In_Frame_Del DEL GAA GAA - TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr6:150001374_150001376delGAA ENST00000543571.1 - 5 2775_2777 c.2228_2230delTTC c.(2227-2232)cga>c p.LR743del LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_In_Frame_Del_p.LR743del NM_004690.3 NP_004681.1 O95835 LATS1_HUMAN large tumor suppressor kinase 1 743 Protein kinase. cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity central_nervous_system(1)|lung(5) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) ACTTGATTTCGAAGAAGAACATC 0.384 23 112 --- --- --- --- FAM84B 157638 broad.mit.edu 37 8 127568724 127568726 + In_Frame_Del DEL TCC TCC - TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr8:127568724_127568726delTCC ENST00000304916.3 - 2 1364_1366 c.909_911delGGA c.(907-912)gac>ga p.ED303del NM_174911.4 NP_777571.1 Q96KN1 FA84B_HUMAN family with sequence similarity 84, member B 303 cytoplasm|plasma membrane protein binding lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 5 Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135) STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723) TGCCTCTCCGTCCTCCTCCTCGG 0.700 2 4 --- --- --- --- RPLP0P2 0 broad.mit.edu 37 11 61405251 61405252 + RNA INS - - A TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr11:61405251_61405252insA ENST00000496593.1 + 0 1855_1856 NR_002775.2 agaaagaaaagaaaaaaaaaat 0.366 2 4 --- --- --- --- USP28 57646 broad.mit.edu 37 11 113704275 113704276 + Frame_Shift_Del DEL TT TT - TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr11:113704275_113704276delTT ENST00000003302.4 - 7 693_694 c.625_626delAA c.(625-627)gfs p.K209fs USP28_ENST00000545540.1_Frame_Shift_Del_p.K84fs|USP28_ENST00000260188.5_Frame_Shift_Del_p.K209fs|USP28_ENST00000537706.1_Frame_Shift_Del_p.K209fs|USP28_ENST00000542033.1_5'UTR NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 209 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) GATATTTCTCTTTTCCTGTAGA 0.332 26 39 --- --- --- --- TAS2R31 259290 broad.mit.edu 37 12 11183257 11183258 + Frame_Shift_Del DEL TT TT - TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr12:11183257_11183258delTT ENST00000390675.2 - 1 748_749 c.677_678delAA c.(676-678)afs p.K226fs TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176885.2 NP_795366.2 P59538 T2R31_HUMAN taste receptor, type 2, member 31 226 sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|lung(6) 7 TTTGCAAAGCTTTTATGTGGAC 0.396 34 149 --- --- --- --- HDGFRP3 0 broad.mit.edu 37 15 83876152 83876152 + Frame_Shift_Del DEL C C - TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr15:83876152delC ENST00000299633.4 - 1 618 c.15delG c.(13-15)cgfs p.R5fs RP11-382A20.4_ENST00000565495.1_RNA NM_016073.3 NP_057157.1 Q9Y3E1 HDGR3_HUMAN 5 cell proliferation nucleus growth factor activity kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 ACTCGCGGGGCCGCGGACGCG 0.756 2 4 --- --- --- --- LA16c-306E5.3 0 broad.mit.edu 37 16 3546140 3546141 + RNA INS - - AA rs74546027 TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr16:3546140_3546141insAA ENST00000574423.2 + 0 111 gactccgtctcaaaaaaaaaaa 0.559 2 4 --- --- --- --- ATAD5 79915 broad.mit.edu 37 17 29220737 29220740 + Frame_Shift_Del DEL AAAG AAAG - TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr17:29220737_29220740delAAAG ENST00000321990.4 + 21 5244_5247 c.4866_4869delAAAG c.(4864-4869)acfs p.TK1622fs NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1622 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) ATCCAGAGACAAAGAAATCTATTC 0.392 45 73 --- --- --- --- LRRC37A2 474170 broad.mit.edu 37 17 44630791 44630793 + In_Frame_Del DEL AAG AAG - TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr17:44630791_44630793delAAG ENST00000576629.1 + 12 5330_5332 c.4835_4837delAAG c.(4834-4839)caa>c p.QE1612del ARL17A_ENST00000570550.1_Intron|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000329240.4_Intron|LRRC37A2_ENST00000333412.3_In_Frame_Del_p.QE1612del|ARL17A_ENST00000573185.1_Intron A6NM11 L37A2_HUMAN leucine rich repeat containing 37, member A2 1612 integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2) 15 Melanoma(429;0.211) BRCA - Breast invasive adenocarcinoma(366;0.232) AGGTCATTACAAGAAGATGAAGA 0.369 23 243 --- --- --- --- CACNA1G 8913 broad.mit.edu 37 17 48653584 48653584 + Frame_Shift_Del DEL A A - TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr17:48653584delA ENST00000352832.5 + 8 2193 c.1821delA c.(1819-1821)ctfs p.L607fs CACNA1G_ENST00000359106.5_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000507609.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000514079.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000510366.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000429973.2_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000505165.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000360761.4_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000513689.2_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000354983.4_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000503485.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000515165.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000512389.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000510115.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000416767.4_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000515765.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000442258.2_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000358244.5_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000515411.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000502264.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000514717.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000507336.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000513964.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000507510.2_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000514181.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000507896.1_Frame_Shift_Del_p.L607fs 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 607 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) AGAAGGCACTAGTAGAGGTGG 0.637 2 4 --- --- --- --- MATK 4145 broad.mit.edu 37 19 3785085 3785086 + Frame_Shift_Del DEL CA CA - TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr19:3785085_3785086delCA ENST00000310132.6 - 2 446_447 c.48_49delTG c.(46-51)tgatfs p.CD16fs MATK_ENST00000395045.2_Intron|MATK_ENST00000585778.1_Frame_Shift_Del_p.CD16fs|MATK_ENST00000395040.2_Intron NM_139355.2 NP_647612.1 P42679 MATK_HUMAN megakaryocyte-associated tyrosine kinase 16 cell proliferation|mesoderm development|positive regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 26 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) TCAGCAGAATCACAGCCGTGAA 0.619 23 43 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42795543 42795544 + Frame_Shift_Del DEL AA AA - TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr19:42795543_42795544delAA ENST00000572681.2 + 11 5418_5419 c.5350_5351delAA c.(5350-5352)afs p.K1784fs CIC_ENST00000160740.3_Frame_Shift_Del_p.K875fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.K875fs Q96RK0 CIC_HUMAN capicua transcriptional repressor 875 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CACCAACGGCAAAGTCCTGGCT 0.683 """Mis, F, S""" oligodendroglioma 21 19 --- --- --- --- BIRC7 79444 broad.mit.edu 37 20 61867458 61867458 + Frame_Shift_Del DEL A A - TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a1b13a0-7298-4022-915f-dd2acdfd704f 6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b g.chr20:61867458delA ENST00000217169.3 + 1 224 c.10delA c.(10-12)aafs p.K4fs BIRC7_ENST00000342412.6_Frame_Shift_Del_p.K4fs NM_139317.1 NP_647478.1 Q96CA5 BIRC7_HUMAN baculoviral IAP repeat containing 7 4 activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change cytoplasm|nucleus enzyme binding|zinc ion binding endometrium(1)|kidney(1)|lung(9)|ovary(1) 12 all_cancers(38;2.72e-09) CATGGGACCTAAAGACAGTGC 0.627 2 4 --- --- --- ---