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 PPP1R3F 89801 broad.mit.edu 37 X 49127085 49127085 + Silent SNP G G A TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c cbc0921a-26ee-4492-af40-ba86d2868ef0 g.chrX:49127085G>A ENST00000055335.6 + 1 769 c.753G>A c.(751-753)gaG>gaA p.E251E PPP1R3F_ENST00000495799.1_Intron|PPP1R3F_ENST00000466508.1_5'UTR|PPP1R3F_ENST00000438316.1_5'UTR NM_033215.4 NP_149992.3 Q6ZSY5 PPR3F_HUMAN protein phosphatase 1, regulatory subunit 3F 251 CBM21. integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4) 27 Ovarian(276;0.236) CCTTTGCTGAGGGCGCGGGCG 0.701000 3 28 0 0 1 0 0 FPR1 2357 broad.mit.edu 37 19 52249646 52249646 + Missense_Mutation SNP C C G TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c cbc0921a-26ee-4492-af40-ba86d2868ef0 g.chr19:52249646C>G ENST00000595042.1 - 3 743 c.602G>C c.(601-603)aGa>aCa p.R201T FPR1_ENST00000304748.4_Missense_Mutation_p.R201T NM_001193306.1 NP_001180235.1 P21462 FPR1_HUMAN formyl peptide receptor 1 201 activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction endosome|integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3) 20 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018) Nedocromil(DB00716) GATGATGCCTCTCACCGTCAA 0.507000 6 90 0 0 1 0 0 GPSM3 63940 broad.mit.edu 37 6 32159644 32159644 + Missense_Mutation SNP C C T TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c cbc0921a-26ee-4492-af40-ba86d2868ef0 g.chr6:32159644C>T ENST00000375040.3 - 3 579 c.187G>A c.(187-189)Gaa>Aaa p.E63K GPSM3_ENST00000375043.3_Missense_Mutation_p.E63K|GPSM3_ENST00000487761.1_Missense_Mutation_p.E60K NM_001276501.1 NP_001263430.1 Q9Y4H4 GPSM3_HUMAN G-protein signaling modulator 3 63 GoLoco 1. signal transduction cytoplasm GTPase activator activity|protein binding large_intestine(1) 1 AGAAGGAGTTCAGTCTGCAGG 0.672000 4 60 0 0 1 0 0 DOCK8 81704 broad.mit.edu 37 9 406991 406991 + Missense_Mutation SNP C C T TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c cbc0921a-26ee-4492-af40-ba86d2868ef0 g.chr9:406991C>T ENST00000432829.2 + 28 3564 c.3248C>T c.(3247-3249)tCc>tTc p.S1083F DOCK8_ENST00000453981.1_Missense_Mutation_p.S1151F|DOCK8_ENST00000469391.1_Missense_Mutation_p.S1051F|DOCK8_ENST00000382329.1_Missense_Mutation_p.S618F NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1151 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) GATCTGACTTCCGAGTACCGC 0.522000 7 120 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9449316 9449316 + Missense_Mutation SNP A A G TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c cbc0921a-26ee-4492-af40-ba86d2868ef0 g.chr20:9449316A>G ENST00000378501.2 + 32 3326 c.3311A>G c.(3310-3312)gAa>gGa p.E1104G PLCB4_ENST00000278655.4_Missense_Mutation_p.E1104G|PLCB4_ENST00000378473.3_Missense_Mutation_p.E1116G|PLCB4_ENST00000414679.2_Missense_Mutation_p.E1116G|PLCB4_ENST00000378493.1_Missense_Mutation_p.E1104G|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.E1104G NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 1104 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 GCAGAACGGGAAAGGTAAGTC 0.423000 16 52 0 0 1 0 0 PCDHB17 0 broad.mit.edu 37 5 140537004 140537004 + Silent SNP C C T rs246697 TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c cbc0921a-26ee-4492-af40-ba86d2868ef0 g.chr5:140537004C>T ENST00000539533.1 + 1 1428 c.1428C>T c.(1426-1428)gcC>gcT p.A476A GTGTCAGCGCCACAGACAGAG 0.642000 8 195 0 0 1 0 0 RASAL1 8437 broad.mit.edu 37 12 113553841 113553841 + Silent SNP G G A TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c cbc0921a-26ee-4492-af40-ba86d2868ef0 g.chr12:113553841G>A ENST00000546530.1 - 10 1032 c.747C>T c.(745-747)gcC>gcT p.A249A RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Silent_p.A249A|RASAL1_ENST00000261729.5_Silent_p.A249A|RASAL1_ENST00000446861.3_Silent_p.A249A NM_001193520.1|NM_004658.2 NP_001180449.1|NP_004649.2 O95294 RASL1_HUMAN RAS protein activator like 1 (GAP1 like) 249 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 TCACTCGCAGGGCACCCAGGT 0.582000 4 58 0 0 1 0 0 RASAL1 8437 broad.mit.edu 37 12 113553842 113553842 + Missense_Mutation SNP G G A TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c cbc0921a-26ee-4492-af40-ba86d2868ef0 g.chr12:113553842G>A ENST00000546530.1 - 10 1031 c.746C>T c.(745-747)gCc>gTc p.A249V RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.A249V|RASAL1_ENST00000261729.5_Missense_Mutation_p.A249V|RASAL1_ENST00000446861.3_Missense_Mutation_p.A249V NM_001193520.1|NM_004658.2 NP_001180449.1|NP_004649.2 O95294 RASL1_HUMAN RAS protein activator like 1 (GAP1 like) 249 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 CACTCGCAGGGCACCCAGGTT 0.577000 4 57 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123630900 123630900 + Missense_Mutation SNP G G A TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c cbc0921a-26ee-4492-af40-ba86d2868ef0 g.chrX:123630900G>A ENST00000422452.2 - 20 3724 c.3661C>T c.(3661-3663)Ccc>Tcc p.P1221S TENM1_ENST00000371130.3_Missense_Mutation_p.P1221S|TENM1_ENST00000461429.1_5'UTR NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 TTTCCCGAGGGAAATATTCTC 0.398000 4 60 0 0 1 0 0 TCP11L2 255394 broad.mit.edu 37 12 106734726 106734726 + Missense_Mutation SNP G G A TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c cbc0921a-26ee-4492-af40-ba86d2868ef0 g.chr12:106734726G>A ENST00000299045.3 + 9 1439 c.1265G>A c.(1264-1266)gGt>gAt p.G422D NM_152772.1 NP_689985.1 Q8N4U5 T11L2_HUMAN t-complex 11, testis-specific-like 2 422 endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2) 15 AATCTTATAGGTCAATTTTCA 0.373000 9 126 0 0 1 0 0 CHAF1B 8208 broad.mit.edu 37 21 37785504 37785504 + Missense_Mutation SNP G G A TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c cbc0921a-26ee-4492-af40-ba86d2868ef0 g.chr21:37785504G>A ENST00000314103.4 + 12 1535 c.1384G>A c.(1384-1386)Ggg>Agg p.G462R NM_005441.2 NP_005432.1 Q13112 CAF1B_HUMAN chromatin assembly factor 1, subunit B (p60) 462 cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|cytoplasm chromatin binding|histone binding|unfolded protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2) 20 CCCCTTGCCGGGGCCTTCGGA 0.627000 4 31 0 0 1 0 0 TLR8 51311 broad.mit.edu 37 X 12940129 12940129 + Missense_Mutation SNP G G C TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c cbc0921a-26ee-4492-af40-ba86d2868ef0 g.chrX:12940129G>C ENST00000218032.6 + 2 3057 c.2970G>C c.(2968-2970)ttG>ttC p.L990F TLR8_ENST00000311912.5_Missense_Mutation_p.L1008F NM_138636.4 NP_619542.1 Q9NR97 TLR8_HUMAN toll-like receptor 8 990 TIR. cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 CTCAGTATTTGAGGCTACGGC 0.463000 6 113 0 0 1 0 0 AKR1D1 6718 broad.mit.edu 37 7 137801382 137801382 + Missense_Mutation SNP G G A TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c cbc0921a-26ee-4492-af40-ba86d2868ef0 g.chr7:137801382G>A ENST00000242375.3 + 9 997 c.955G>A c.(955-957)Gaa>Aaa p.E319K AKR1D1_ENST00000411726.2_Missense_Mutation_p.E278K|AKR1D1_ENST00000432161.1_Silent_p.*291*|AKR1D1_ENST00000468877.2_3'UTR NM_005989.3 NP_005980.1 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 319 androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 23 CGATCATCCTGAATACCCATT 0.443000 6 65 0 0 1 0 0 DOCK8 81704 broad.mit.edu 37 9 406992 406992 + Silent SNP C C T TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c cbc0921a-26ee-4492-af40-ba86d2868ef0 g.chr9:406992C>T ENST00000432829.2 + 28 3565 c.3249C>T c.(3247-3249)tcC>tcT p.S1083S DOCK8_ENST00000453981.1_Silent_p.S1151S|DOCK8_ENST00000469391.1_Silent_p.S1051S|DOCK8_ENST00000382329.1_Silent_p.S618S NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1151 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) ATCTGACTTCCGAGTACCGCC 0.527000 7 120 0 0 1 0 0 NDUFA9 4704 broad.mit.edu 37 12 4771757 4771757 + Missense_Mutation SNP C C T TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c cbc0921a-26ee-4492-af40-ba86d2868ef0 g.chr12:4771757C>T ENST00000266544.5 + 6 631 c.611C>T c.(610-612)tCg>tTg p.S204L NM_005002.4 NP_004993.1 Q16795 NDUA9_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa 204 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) GTAAAGCCGTCGGACATCTTT 0.388000 7 127 0 0 1 0 0 AUTS2 26053 broad.mit.edu 37 7 70249984 70249984 + Missense_Mutation SNP C C T rs34479874 TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c cbc0921a-26ee-4492-af40-ba86d2868ef0 g.chr7:70249984C>T ENST00000342771.4 + 16 2524 c.2203C>T c.(2203-2205)Ctc>Ttc p.L735F AUTS2_ENST00000406775.2_Missense_Mutation_p.L711F NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 735 breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) CAGCAACTTCCTCAACCCTGC 0.517000 4 59 0 0 1 0 0 FAM78A 286336 broad.mit.edu 37 9 134136313 134136313 + Missense_Mutation SNP G G A TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c cbc0921a-26ee-4492-af40-ba86d2868ef0 g.chr9:134136313G>A ENST00000372271.3 - 2 1115 c.748C>T c.(748-750)Ccg>Tcg p.P250S FAM78A_ENST00000247295.4_5'UTR|FAM78A_ENST00000372269.3_Missense_Mutation_p.P247S NM_033387.3 NP_203745.2 Q5JUQ0 FA78A_HUMAN family with sequence similarity 78, member A 250 NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267) GCGCTGGGCGGGATGGGCTCA 0.687000 6 116 0 0 1 0 0 TUBB8 347688 broad.mit.edu 37 10 93798 93798 + Silent SNP G G A TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c cbc0921a-26ee-4492-af40-ba86d2868ef0 g.chr10:93798G>A ENST00000447903.2 - 4 633 c.318C>T c.(316-318)acC>acT p.T106T TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000309812.4_Silent_p.T178T Q3ZCM7 TBB8_HUMAN tubulin, beta 8 class VIII 178 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1) 32 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) GCTCCACCACGGTGTCCGACA 0.522000 16 113 0 0 1 0 0 RLIM 51132 broad.mit.edu 37 X 73812337 73812337 + Missense_Mutation SNP C C G TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c cbc0921a-26ee-4492-af40-ba86d2868ef0 g.chrX:73812337C>G ENST00000332687.6 - 4 1031 c.813G>C c.(811-813)ttG>ttC p.L271F RLIM_ENST00000349225.2_Missense_Mutation_p.L271F NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 271 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TTTGCTGCCTCAATGTCACAT 0.453000 8 117 0 0 1 0 0 AC093838.4 0 broad.mit.edu 37 2 132258593 132258593 + RNA SNP A A G rs13415770 by1000genomes TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c cbc0921a-26ee-4492-af40-ba86d2868ef0 g.chr2:132258593A>G ENST00000438378.2 + 0 777 NR_026922.1 CTGTACCACAACAAGGTCCAG 0.617000 3 23 0 0 1 0 0 FAM98C 147965 broad.mit.edu 37 19 38896057 38896057 + Missense_Mutation SNP G G C TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c cbc0921a-26ee-4492-af40-ba86d2868ef0 g.chr19:38896057G>C ENST00000252530.5 + 5 648 c.629G>C c.(628-630)aGa>aCa p.R210T FAM98C_ENST00000588262.1_Intron|FAM98C_ENST00000343358.7_Intron NM_174905.3 NP_777565.3 Q17RN3 FA98C_HUMAN family with sequence similarity 98, member C 210 endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GATGCACCCAGATGGGTAAGA 0.572000 4 57 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197298099 197298099 + Missense_Mutation SNP G G A TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c cbc0921a-26ee-4492-af40-ba86d2868ef0 g.chr2:197298099G>A ENST00000260983.2 - 2 231 c.49C>T c.(49-51)Ccc>Tcc p.P17S NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 17 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 CGCATCTGGGGATTTCGACGC 0.577000 5 69 0 0 1 0 0 B3GNT8 374907 broad.mit.edu 37 19 41931682 41931682 + Silent SNP G G A rs142140890 TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c cbc0921a-26ee-4492-af40-ba86d2868ef0 g.chr19:41931682G>A ENST00000321702.2 - 3 1455 c.1002C>T c.(1000-1002)gaC>gaT p.D334D CTC-435M10.6_ENST00000598887.1_RNA NM_198540.2 NP_940942.1 Q7Z7M8 B3GN8_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 334 poly-N-acetyllactosamine biosynthetic process|protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2) 11 CAGTGTAGACGTCCTCAAAGG 0.692000 4 53 0 0 1 0 0 TANC1 85461 broad.mit.edu 37 2 160087145 160087145 + Missense_Mutation SNP G G C TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c cbc0921a-26ee-4492-af40-ba86d2868ef0 g.chr2:160087145G>C ENST00000263635.6 + 27 5445 c.5208G>C c.(5206-5208)caG>caC p.Q1736H TANC1_ENST00000454300.1_Missense_Mutation_p.Q1630H NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 1736 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 TCCAACAGCAGAGCAATCCTC 0.577000 8 109 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c cbc0921a-26ee-4492-af40-ba86d2868ef0 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 24 68 0 0 1 0 0 NSUN5P1 0 broad.mit.edu 37 7 75044463 75044463 + RNA SNP G G A rs71245954 TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c cbc0921a-26ee-4492-af40-ba86d2868ef0 g.chr7:75044463G>A ENST00000393633.2 + 0 3631 large_intestine(1)|lung(1) 2 TGCCTGTGCCGCCCCAGGCAA 0.612000 3 32 0 0 1 0 0 PPP1R3F 89801 broad.mit.edu 37 X 49127085 49127085 + Silent SNP G G A TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c 1e2e5415-3eb0-4279-a6cd-aac232c67b8a g.chrX:49127085G>A ENST00000055335.6 + 1 769 c.753G>A c.(751-753)gaG>gaA p.E251E PPP1R3F_ENST00000495799.1_Intron|PPP1R3F_ENST00000466508.1_5'UTR|PPP1R3F_ENST00000438316.1_5'UTR NM_033215.4 NP_149992.3 Q6ZSY5 PPR3F_HUMAN protein phosphatase 1, regulatory subunit 3F 251 CBM21. integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4) 27 Ovarian(276;0.236) CCTTTGCTGAGGGCGCGGGCG 0.701000 3 28 0 0 1 0 0 FPR1 2357 broad.mit.edu 37 19 52249646 52249646 + Missense_Mutation SNP C C G TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c 1e2e5415-3eb0-4279-a6cd-aac232c67b8a g.chr19:52249646C>G ENST00000595042.1 - 3 743 c.602G>C c.(601-603)aGa>aCa p.R201T FPR1_ENST00000304748.4_Missense_Mutation_p.R201T NM_001193306.1 NP_001180235.1 P21462 FPR1_HUMAN formyl peptide receptor 1 201 activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction endosome|integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3) 20 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018) Nedocromil(DB00716) GATGATGCCTCTCACCGTCAA 0.507000 6 90 0 0 1 0 0 GPSM3 63940 broad.mit.edu 37 6 32159644 32159644 + Missense_Mutation SNP C C T TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c 1e2e5415-3eb0-4279-a6cd-aac232c67b8a g.chr6:32159644C>T ENST00000375040.3 - 3 579 c.187G>A c.(187-189)Gaa>Aaa p.E63K GPSM3_ENST00000375043.3_Missense_Mutation_p.E63K|GPSM3_ENST00000487761.1_Missense_Mutation_p.E60K NM_001276501.1 NP_001263430.1 Q9Y4H4 GPSM3_HUMAN G-protein signaling modulator 3 63 GoLoco 1. signal transduction cytoplasm GTPase activator activity|protein binding large_intestine(1) 1 AGAAGGAGTTCAGTCTGCAGG 0.672000 4 60 0 0 1 0 0 DOCK8 81704 broad.mit.edu 37 9 406991 406991 + Missense_Mutation SNP C C T TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c 1e2e5415-3eb0-4279-a6cd-aac232c67b8a g.chr9:406991C>T ENST00000432829.2 + 28 3564 c.3248C>T c.(3247-3249)tCc>tTc p.S1083F DOCK8_ENST00000382329.1_Missense_Mutation_p.S618F|DOCK8_ENST00000469391.1_Missense_Mutation_p.S1051F|DOCK8_ENST00000453981.1_Missense_Mutation_p.S1151F NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1151 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) GATCTGACTTCCGAGTACCGC 0.522000 7 120 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9449316 9449316 + Missense_Mutation SNP A A G TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c 1e2e5415-3eb0-4279-a6cd-aac232c67b8a g.chr20:9449316A>G ENST00000378501.2 + 32 3326 c.3311A>G c.(3310-3312)gAa>gGa p.E1104G PLCB4_ENST00000334005.3_Missense_Mutation_p.E1104G|PLCB4_ENST00000278655.4_Missense_Mutation_p.E1104G|PLCB4_ENST00000378473.3_Missense_Mutation_p.E1116G|PLCB4_ENST00000414679.2_Missense_Mutation_p.E1116G|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.E1104G NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 1104 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 GCAGAACGGGAAAGGTAAGTC 0.423000 16 52 0 0 1 0 0 PCDHB17 0 broad.mit.edu 37 5 140537004 140537004 + Silent SNP C C T rs246697 TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c 1e2e5415-3eb0-4279-a6cd-aac232c67b8a g.chr5:140537004C>T ENST00000539533.1 + 1 1428 c.1428C>T c.(1426-1428)gcC>gcT p.A476A GTGTCAGCGCCACAGACAGAG 0.642000 8 195 0 0 1 0 0 RASAL1 8437 broad.mit.edu 37 12 113553841 113553841 + Silent SNP G G A TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c 1e2e5415-3eb0-4279-a6cd-aac232c67b8a g.chr12:113553841G>A ENST00000546530.1 - 10 1032 c.747C>T c.(745-747)gcC>gcT p.A249A RASAL1_ENST00000548055.1_Silent_p.A249A|RASAL1_ENST00000261729.5_Silent_p.A249A|RASAL1_ENST00000446861.3_Silent_p.A249A|RASAL1_ENST00000418411.2_5'UTR NM_001193520.1|NM_004658.2 NP_001180449.1|NP_004649.2 O95294 RASL1_HUMAN RAS protein activator like 1 (GAP1 like) 249 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 TCACTCGCAGGGCACCCAGGT 0.582000 4 58 0 0 1 0 0 RASAL1 8437 broad.mit.edu 37 12 113553842 113553842 + Missense_Mutation SNP G G A TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c 1e2e5415-3eb0-4279-a6cd-aac232c67b8a g.chr12:113553842G>A ENST00000546530.1 - 10 1031 c.746C>T c.(745-747)gCc>gTc p.A249V RASAL1_ENST00000548055.1_Missense_Mutation_p.A249V|RASAL1_ENST00000261729.5_Missense_Mutation_p.A249V|RASAL1_ENST00000446861.3_Missense_Mutation_p.A249V|RASAL1_ENST00000418411.2_5'UTR NM_001193520.1|NM_004658.2 NP_001180449.1|NP_004649.2 O95294 RASL1_HUMAN RAS protein activator like 1 (GAP1 like) 249 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 CACTCGCAGGGCACCCAGGTT 0.577000 4 57 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123630900 123630900 + Missense_Mutation SNP G G A TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c 1e2e5415-3eb0-4279-a6cd-aac232c67b8a g.chrX:123630900G>A ENST00000422452.2 - 20 3724 c.3661C>T c.(3661-3663)Ccc>Tcc p.P1221S TENM1_ENST00000371130.3_Missense_Mutation_p.P1221S|TENM1_ENST00000461429.1_5'UTR NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 TTTCCCGAGGGAAATATTCTC 0.398000 4 60 0 0 1 0 0 TCP11L2 255394 broad.mit.edu 37 12 106734726 106734726 + Missense_Mutation SNP G G A TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c 1e2e5415-3eb0-4279-a6cd-aac232c67b8a g.chr12:106734726G>A ENST00000299045.3 + 9 1439 c.1265G>A c.(1264-1266)gGt>gAt p.G422D NM_152772.1 NP_689985.1 Q8N4U5 T11L2_HUMAN t-complex 11, testis-specific-like 2 422 endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2) 15 AATCTTATAGGTCAATTTTCA 0.373000 9 126 0 0 1 0 0 CHAF1B 8208 broad.mit.edu 37 21 37785504 37785504 + Missense_Mutation SNP G G A TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c 1e2e5415-3eb0-4279-a6cd-aac232c67b8a g.chr21:37785504G>A ENST00000314103.4 + 12 1535 c.1384G>A c.(1384-1386)Ggg>Agg p.G462R NM_005441.2 NP_005432.1 Q13112 CAF1B_HUMAN chromatin assembly factor 1, subunit B (p60) 462 cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|cytoplasm chromatin binding|histone binding|unfolded protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2) 20 CCCCTTGCCGGGGCCTTCGGA 0.627000 4 31 0 0 1 0 0 GOLGA6L5 0 broad.mit.edu 37 15 85053124 85053124 + RNA SNP G G T TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c 1e2e5415-3eb0-4279-a6cd-aac232c67b8a g.chr15:85053124G>T ENST00000414190.2 - 0 328 NR_003246.2 TAAATGTTTTGTTTTTTTTTT 0.353000 3 7 0.115264 0.115264 1 1 0 TLR8 51311 broad.mit.edu 37 X 12940129 12940129 + Missense_Mutation SNP G G C TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c 1e2e5415-3eb0-4279-a6cd-aac232c67b8a g.chrX:12940129G>C ENST00000218032.6 + 2 3057 c.2970G>C c.(2968-2970)ttG>ttC p.L990F TLR8_ENST00000311912.5_Missense_Mutation_p.L1008F NM_138636.4 NP_619542.1 Q9NR97 TLR8_HUMAN toll-like receptor 8 990 TIR. cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 CTCAGTATTTGAGGCTACGGC 0.463000 6 113 0 0 1 0 0 AKR1D1 6718 broad.mit.edu 37 7 137801382 137801382 + Missense_Mutation SNP G G A TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c 1e2e5415-3eb0-4279-a6cd-aac232c67b8a g.chr7:137801382G>A ENST00000242375.3 + 9 997 c.955G>A c.(955-957)Gaa>Aaa p.E319K AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000411726.2_Missense_Mutation_p.E278K|AKR1D1_ENST00000432161.1_Silent_p.*291* NM_005989.3 NP_005980.1 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 319 androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 23 CGATCATCCTGAATACCCATT 0.443000 6 65 0 0 1 0 0 DOCK8 81704 broad.mit.edu 37 9 406992 406992 + Silent SNP C C T TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c 1e2e5415-3eb0-4279-a6cd-aac232c67b8a g.chr9:406992C>T ENST00000432829.2 + 28 3565 c.3249C>T c.(3247-3249)tcC>tcT p.S1083S DOCK8_ENST00000382329.1_Silent_p.S618S|DOCK8_ENST00000469391.1_Silent_p.S1051S|DOCK8_ENST00000453981.1_Silent_p.S1151S NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1151 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) ATCTGACTTCCGAGTACCGCC 0.527000 7 120 0 0 1 0 0 NDUFA9 4704 broad.mit.edu 37 12 4771757 4771757 + Missense_Mutation SNP C C T TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c 1e2e5415-3eb0-4279-a6cd-aac232c67b8a g.chr12:4771757C>T ENST00000266544.5 + 6 631 c.611C>T c.(610-612)tCg>tTg p.S204L NM_005002.4 NP_004993.1 Q16795 NDUA9_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa 204 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) GTAAAGCCGTCGGACATCTTT 0.388000 7 127 0 0 1 0 0 AUTS2 26053 broad.mit.edu 37 7 70249984 70249984 + Missense_Mutation SNP C C T rs34479874 TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c 1e2e5415-3eb0-4279-a6cd-aac232c67b8a g.chr7:70249984C>T ENST00000342771.4 + 16 2524 c.2203C>T c.(2203-2205)Ctc>Ttc p.L735F AUTS2_ENST00000406775.2_Missense_Mutation_p.L711F NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 735 breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) CAGCAACTTCCTCAACCCTGC 0.517000 4 59 0 0 1 0 0 FAM78A 286336 broad.mit.edu 37 9 134136313 134136313 + Missense_Mutation SNP G G A TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c 1e2e5415-3eb0-4279-a6cd-aac232c67b8a g.chr9:134136313G>A ENST00000372271.3 - 2 1115 c.748C>T c.(748-750)Ccg>Tcg p.P250S FAM78A_ENST00000372269.3_Missense_Mutation_p.P247S|FAM78A_ENST00000247295.4_5'UTR NM_033387.3 NP_203745.2 Q5JUQ0 FA78A_HUMAN family with sequence similarity 78, member A 250 NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267) GCGCTGGGCGGGATGGGCTCA 0.687000 6 116 0 0 1 0 0 TUBB8 347688 broad.mit.edu 37 10 93798 93798 + Silent SNP G G A TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c 1e2e5415-3eb0-4279-a6cd-aac232c67b8a g.chr10:93798G>A ENST00000447903.2 - 4 633 c.318C>T c.(316-318)acC>acT p.T106T TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000309812.4_Silent_p.T178T|TUBB8_ENST00000332708.5_3'UTR Q3ZCM7 TBB8_HUMAN tubulin, beta 8 class VIII 178 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1) 32 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) GCTCCACCACGGTGTCCGACA 0.522000 16 113 0 0 1 0 0 RLIM 51132 broad.mit.edu 37 X 73812337 73812337 + Missense_Mutation SNP C C G TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c 1e2e5415-3eb0-4279-a6cd-aac232c67b8a g.chrX:73812337C>G ENST00000332687.6 - 4 1031 c.813G>C c.(811-813)ttG>ttC p.L271F RLIM_ENST00000349225.2_Missense_Mutation_p.L271F NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 271 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TTTGCTGCCTCAATGTCACAT 0.453000 8 117 0 0 1 0 0 AC093838.4 0 broad.mit.edu 37 2 132258593 132258593 + RNA SNP A A G rs13415770 by1000genomes TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c 1e2e5415-3eb0-4279-a6cd-aac232c67b8a g.chr2:132258593A>G ENST00000438378.2 + 0 777 NR_026922.1 CTGTACCACAACAAGGTCCAG 0.617000 3 23 0 0 1 0 0 FAM98C 147965 broad.mit.edu 37 19 38896057 38896057 + Missense_Mutation SNP G G C TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c 1e2e5415-3eb0-4279-a6cd-aac232c67b8a g.chr19:38896057G>C ENST00000252530.5 + 5 648 c.629G>C c.(628-630)aGa>aCa p.R210T FAM98C_ENST00000588262.1_Intron|FAM98C_ENST00000343358.7_Intron NM_174905.3 NP_777565.3 Q17RN3 FA98C_HUMAN family with sequence similarity 98, member C 210 endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GATGCACCCAGATGGGTAAGA 0.572000 4 57 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197298099 197298099 + Missense_Mutation SNP G G A TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c 1e2e5415-3eb0-4279-a6cd-aac232c67b8a g.chr2:197298099G>A ENST00000260983.2 - 2 231 c.49C>T c.(49-51)Ccc>Tcc p.P17S NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 17 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 CGCATCTGGGGATTTCGACGC 0.577000 5 69 0 0 1 0 0 B3GNT8 374907 broad.mit.edu 37 19 41931682 41931682 + Silent SNP G G A rs142140890 TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c 1e2e5415-3eb0-4279-a6cd-aac232c67b8a g.chr19:41931682G>A ENST00000321702.2 - 3 1455 c.1002C>T c.(1000-1002)gaC>gaT p.D334D CTC-435M10.6_ENST00000598887.1_RNA NM_198540.2 NP_940942.1 Q7Z7M8 B3GN8_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 334 poly-N-acetyllactosamine biosynthetic process|protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2) 11 CAGTGTAGACGTCCTCAAAGG 0.692000 4 53 0 0 1 0 0 TANC1 85461 broad.mit.edu 37 2 160087145 160087145 + Missense_Mutation SNP G G C TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c 1e2e5415-3eb0-4279-a6cd-aac232c67b8a g.chr2:160087145G>C ENST00000263635.6 + 27 5445 c.5208G>C c.(5206-5208)caG>caC p.Q1736H TANC1_ENST00000454300.1_Missense_Mutation_p.Q1630H NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 1736 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 TCCAACAGCAGAGCAATCCTC 0.577000 8 109 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c 1e2e5415-3eb0-4279-a6cd-aac232c67b8a g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 24 68 0 0 1 0 0 NSUN5P1 0 broad.mit.edu 37 7 75044463 75044463 + RNA SNP G G A rs71245954 TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c 1e2e5415-3eb0-4279-a6cd-aac232c67b8a g.chr7:75044463G>A ENST00000393633.2 + 0 3631 large_intestine(1)|lung(1) 2 TGCCTGTGCCGCCCCAGGCAA 0.612000 3 32 0 0 1 0 0 KANK1 23189 broad.mit.edu 37 9 732475 732477 + In_Frame_Del DEL GAG GAG - TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c cbc0921a-26ee-4492-af40-ba86d2868ef0 g.chr9:732475_732477delGAG ENST00000382303.1 + 10 3755_3757 c.3103_3105delGAG c.(3103-3105)del p.E1039del KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_In_Frame_Del_p.E1039del|KANK1_ENST00000382293.3_In_Frame_Del_p.E881del NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 1039 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) TCTTGAAGAAGAGGAGGAGGAGG 0.463 7 148 --- --- --- --- CDK12 51755 broad.mit.edu 37 17 37686861 37686863 + In_Frame_Del DEL TCC TCC - TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c cbc0921a-26ee-4492-af40-ba86d2868ef0 g.chr17:37686861_37686863delTCC ENST00000447079.4 + 14 3798_3800 c.3765_3767delTCC c.(3763-3768)tgt>tg p.CP1255del CDK12_ENST00000430627.2_Intron NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 1255 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 CCACAGCATGTCCTCCTCACATT 0.498 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 9 330 --- --- --- --- CDK12 51755 broad.mit.edu 37 17 37686861 37686863 + In_Frame_Del DEL TCC TCC - TCGA-E8-A2JQ-01A-11D-A19J-08 TCGA-E8-A2JQ-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52299cf0-654e-4a0a-aa9d-dea3c5f1485c 1e2e5415-3eb0-4279-a6cd-aac232c67b8a g.chr17:37686861_37686863delTCC ENST00000447079.4 + 14 3798_3800 c.3765_3767delTCC c.(3763-3768)tgt>tg p.CP1255del CDK12_ENST00000430627.2_Intron NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 1255 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 CCACAGCATGTCCTCCTCACATT 0.498 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 9 330 --- --- --- ---