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 CSMD2 114784 broad.mit.edu 37 1 33985468 33985468 + Silent SNP C C A TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr1:33985468C>A ENST00000373381.4 - 69 10856 c.10680G>T c.(10678-10680)ctG>ctT p.L3560L NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3416 integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGAAAGGCACCAGGATCGCGG 0.597000 26 38 6.32553e-13 6.77099e-13 1 1 0 HBZ 3050 broad.mit.edu 37 16 202931 202931 + Missense_Mutation SNP G G A TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr16:202931G>A ENST00000252951.2 + 1 246 c.23G>A c.(22-24)aGg>aAg p.R8K NM_005332.2 NP_005323.1 P02008 HBAZ_HUMAN hemoglobin, zeta 8 hemoglobin complex heme binding|oxygen binding|oxygen transporter activity all_cancers(16;4.28e-07)|all_epithelial(16;2.09e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239) AAGACTGAGAGGACCATCATT 0.632000 OREG0003684 type=REGULATORY REGION|Gene=HBZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 3 105 0 0 1 0 0 CSAG4 0 broad.mit.edu 37 X 151896249 151896249 + RNA SNP A A C TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chrX:151896249A>C ENST00000361201.4 - 0 481 NR_073432.1 endometrium(2)|kidney(2)|lung(1) 5 GGCCCACTCCATTCCTCAGGT 0.522000 7 51 0 0 1 0 0 THAP11 57215 broad.mit.edu 37 16 67876808 67876808 + Silent SNP G G A TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr16:67876808G>A ENST00000303596.1 + 1 596 c.351G>A c.(349-351)caG>caA p.Q117Q CENPT_ENST00000562787.1_Intron NM_020457.2 NP_065190.2 Q96EK4 THA11_HUMAN THAP domain containing 11 117 Gln-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|identical protein binding|metal ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1) 8 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) agcagcaacagcagcagcagc 0.667000 6 157 0 0 1 0 0 STAT6 6778 broad.mit.edu 37 12 57490363 57490363 + Missense_Mutation SNP T T A TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr12:57490363T>A ENST00000300134.3 - 22 2861 c.2536A>T c.(2536-2538)Agt>Tgt p.S846C STAT6_ENST00000537215.2_Missense_Mutation_p.S736C|STAT6_ENST00000454075.3_Missense_Mutation_p.S846C|STAT6_ENST00000543873.2_Missense_Mutation_p.S846C|STAT6_ENST00000556155.1_Missense_Mutation_p.S846C|STAT6_ENST00000538913.2_Missense_Mutation_p.S736C NM_001178078.1|NM_003153.4 NP_001171549.1|NP_003144.3 P42226 STAT6_HUMAN signal transducer and activator of transcription 6, interleukin-4 induced 846 regulation of transcription from RNA polymerase II promoter cytosol|nucleus calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1) 28 GATCACCAACTGGGGTTGGCC 0.607000 5 292 0 0 1 0 0 DOK2 9046 broad.mit.edu 37 8 21767190 21767190 + Missense_Mutation SNP G G A TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr8:21767190G>A ENST00000276420.4 - 5 1129 c.871C>T c.(871-873)Cgg>Tgg p.R291W DOK2_ENST00000544659.1_Missense_Mutation_p.R137W NM_003974.2 NP_003965.2 O60496 DOK2_HUMAN docking protein 2, 56kDa 291 Pro-rich. blood coagulation|leukocyte migration cytosol identical protein binding|insulin receptor binding NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1) 26 Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608) CCCCGAGGCCGTGGAGCAGGC 0.677000 4 165 0 0 1 0 0 GAGE10 643832 broad.mit.edu 37 X 49173756 49173756 + Missense_Mutation SNP G G C TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chrX:49173756G>C ENST00000407599.3 + 4 410 c.317G>C c.(316-318)aGg>aCg p.R106T NM_001098413.2 NP_001091883.2 A6NGK3 GAG10_HUMAN G antigen 10 106 breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 Ovarian(276;0.236) GAGGTGAAAAGGCCTGAAGAA 0.473000 5 391 0 0 1 0 0 IGFBP7 3490 broad.mit.edu 37 4 57976131 57976131 + Silent SNP G G A TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr4:57976131G>A ENST00000295666.4 - 1 420 c.387C>T c.(385-387)agC>agT p.S129S RP11-12A1.1_ENST00000499667.2_RNA|IGFBP7_ENST00000537922.1_Silent_p.S129S|RP11-12A1.1_ENST00000508328.1_RNA NM_001553.2 NP_001544.1 Q16270 IBP7_HUMAN insulin-like growth factor binding protein 7 129 Kazal-like. cell adhesion|negative regulation of cell proliferation|regulation of cell growth extracellular space insulin-like growth factor binding central_nervous_system(1)|endometrium(1)|lung(3) 5 Glioma(25;0.08)|all_neural(26;0.181) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GCTGGCAGCCGCTCGGGTAGG 0.721000 2 2 0 0 1 0 0 ENC1 8507 broad.mit.edu 37 5 73931990 73931990 + Silent SNP G G A TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr5:73931990G>A ENST00000302351.4 - 2 1451 c.321C>T c.(319-321)tcC>tcT p.S107S ENC1_ENST00000510316.1_Silent_p.S34S|ENC1_ENST00000537006.1_Silent_p.S107S NM_003633.3 NP_003624.1 O14682 ENC1_HUMAN ectodermal-neural cortex 1 (with BTB domain) 107 BTB. nervous system development cytoplasm|cytoskeleton|nuclear matrix actin binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 20 all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.45e-59) TGACCCGGGAGGAGTACGCAT 0.512000 3 133 0 0 1 0 0 GFPT1 2673 broad.mit.edu 37 2 69597225 69597225 + Missense_Mutation SNP C C T TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr2:69597225C>T ENST00000357308.4 - 3 309 c.131G>A c.(130-132)gGa>gAa p.G44E GFPT1_ENST00000361060.4_Missense_Mutation_p.G44E|GFPT1_ENST00000494201.1_5'UTR NM_001244710.1 NP_001231639.1 Q06210 GFPT1_HUMAN glutamine--fructose-6-phosphate transaminase 1 44 Glutamine amidotransferase type-2. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding endometrium(1)|large_intestine(3)|lung(5)|skin(3) 12 ATCATTGCCTCCATCAAATCC 0.338000 45 74 0 0 1 0 0 PLAG1 5324 broad.mit.edu 37 8 57078936 57078936 + Missense_Mutation SNP G G A TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr8:57078936G>A ENST00000316981.3 - 5 1848 c.1369C>T c.(1369-1371)Ccc>Tcc p.P457S PLAG1_ENST00000429357.2_Missense_Mutation_p.P457S|PLAG1_ENST00000423799.2_Missense_Mutation_p.P375S NM_001114634.1|NM_002655.2 NP_001108106.1|NP_002646.2 Q6DJT9 PLAG1_HUMAN pleiomorphic adenoma gene 1 457 Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3) breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) GTTTGTGGGGGGAGCTGGGAA 0.478000 T """TCEA1, LIFR, CTNNB1, CHCHD7""" salivary adenoma 4 189 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127654570 127654570 + Splice_Site SNP C C G TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr5:127654570C>G ENST00000508053.1 - 41 5569 c.e41+1 FBN2_ENST00000262464.4_Splice_Site P35556 FBN2_HUMAN fibrillin 2 bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) ACTGACCATACCTGTACAGTT 0.383000 4 140 0 0 1 0 0 SPG20 23111 broad.mit.edu 37 13 36903501 36903501 + Missense_Mutation SNP T T C TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr13:36903501T>C ENST00000451493.1 - 4 1379 c.1162A>G c.(1162-1164)Agg>Ggg p.R388G SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000355182.4_Missense_Mutation_p.R388G|SPG20_ENST00000438666.2_Missense_Mutation_p.R388G|SPG20_ENST00000494062.2_Missense_Mutation_p.R388G NM_001142295.1 NP_001135767.1 Q8N0X7 SPG20_HUMAN spastic paraplegia 20 (Troyer syndrome) 388 cell death cytoplasm ubiquitin protein ligase binding breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 27 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026) TTATTTACCCTTTTTCCACGT 0.373000 3 242 0 0 1 0 0 YWHAE 7531 broad.mit.edu 37 17 1264494 1264494 + Missense_Mutation SNP T T A TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr17:1264494T>A ENST00000264335.8 - 4 737 c.470A>T c.(469-471)gAt>gTt p.D157V YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000571732.1_Missense_Mutation_p.D135V|YWHAE_ENST00000575977.1_Intron NM_006761.4 NP_006752.1 P62258 1433E_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide 157 apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway cytosol|melanosome histone deacetylase binding|phosphoserine binding kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(18;0.203) UCEC - Uterine corpus endometrioid carcinoma (25;0.0887) CATTGCAATATCACTAGCAGC 0.463000 T """FAM22a, FAM22B""" edometrial stromal sarcoma Miller-Dieker lissencephaly syndrome 10 256 0 0 1 0 0 MBIP 51562 broad.mit.edu 37 14 36789689 36789689 + Missense_Mutation SNP A A C TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr14:36789689A>C ENST00000416007.4 - 1 193 c.106T>G c.(106-108)Tcc>Gcc p.S36A MBIP_ENST00000318473.7_Missense_Mutation_p.S36A|MBIP_ENST00000359527.7_Missense_Mutation_p.S36A NM_001144891.1|NM_016586.2 NP_001138363.1|NP_057670.2 Q9NS73 MBIP1_HUMAN MAP3K12 binding inhibitory protein 1 36 histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus identical protein binding|protein kinase inhibitor activity breast(2)|large_intestine(1)|lung(5) 8 all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164) Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781) GBM - Glioblastoma multiforme(112;0.0191) GTGTGTAGGGAGCGAAAGATT 0.577000 75 93 0 0 1 0 0 TWIST1 7291 broad.mit.edu 37 7 19156404 19156404 + Nonsense_Mutation SNP C C A rs104894058 TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr7:19156404C>A ENST00000242261.5 - 1 891 c.541G>T c.(541-543)Gag>Tag p.E181* NM_000474.3 NP_000465.1 Q15672 TWST1_HUMAN twist family bHLH transcription factor 1 181 Sufficient for transactivation activity (By similarity). aortic valve morphogenesis|cellular response to hypoxia|embryonic camera-type eye formation|embryonic cranial skeleton morphogenesis|eyelid development in camera-type eye|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of histone phosphorylation|negative regulation of osteoblast differentiation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of cell motility|positive regulation of epithelial to mesenchymal transition|positive regulation of fatty acid beta-oxidation|positive regulation of monocyte chemotactic protein-1 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of tumor necrosis factor production|regulation of bone mineralization nucleus bHLH transcription factor binding|E-box binding|sequence-specific DNA binding RNA polymerase II transcription factor activity p.E181*(1) lung(2)|upper_aerodigestive_tract(1) 3 CTGAGCCGCTCGTGAGCCACA 0.657000 16 26 1.52009e-12 1.60454e-12 1 1 0 C10orf120 399814 broad.mit.edu 37 10 124457437 124457437 + Missense_Mutation SNP G G A TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr10:124457437G>A ENST00000329446.4 - 3 851 c.820C>T c.(820-822)Cgg>Tgg p.R274W NM_001010912.1 NP_001010912.1 Q5SQS8 CJ120_HUMAN chromosome 10 open reading frame 120 274 endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1) 21 all_neural(114;0.169)|Glioma(114;0.222) GCGATGGACCGTTCCGGTTTC 0.378000 4 211 0 0 1 0 0 DCP1B 196513 broad.mit.edu 37 12 2062350 2062350 + Missense_Mutation SNP C C G TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr12:2062350C>G ENST00000280665.6 - 7 835 c.756G>C c.(754-756)caG>caC p.Q252H DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 252 Poly-Gln. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding p.Q252H(8) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) gctgctgctgctgGTGGAGAG 0.552000 5 63 0 0 1 0 0 TK1 7083 broad.mit.edu 37 17 76178724 76178724 + Missense_Mutation SNP G G T TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr17:76178724G>T ENST00000588734.1 - 4 487 c.249C>A c.(247-249)gaC>gaA p.D83E TK1_ENST00000590430.1_Intron|TK1_ENST00000405273.1_Missense_Mutation_p.D83E|TK1_ENST00000301634.7_Missense_Mutation_p.D83E|TK1_ENST00000590862.1_Missense_Mutation_p.D83E P04183 KITH_HUMAN thymidine kinase 1, soluble 83 DNA replication|protein homotetramerization|pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|thymidine kinase activity|zinc ion binding endometrium(1)|large_intestine(1)|urinary_tract(2) 4 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23) CCTGGGCCACGTCTCGGAGCA 0.632000 11 10 5.50884e-06 5.65772e-06 1 1 0 CLEC14A 161198 broad.mit.edu 37 14 38724401 38724401 + Missense_Mutation SNP C C T TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr14:38724401C>T ENST00000342213.2 - 1 1173 c.827G>A c.(826-828)gGc>gAc p.G276D NM_175060.2 NP_778230.1 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 276 EGF-like. integral to membrane sugar binding breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) CAGCTCGAAGCCCGTAGCACA 0.667000 4 173 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105411479 105411479 + Missense_Mutation SNP G G A TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr14:105411479G>A ENST00000333244.5 - 7 10428 c.10309C>T c.(10309-10311)Ccc>Tcc p.P3437S AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3437 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TCCACGCTGGGCAGAGACACC 0.622000 6 355 0 0 1 0 0 ZNF737 100129842 broad.mit.edu 37 19 20727601 20727601 + Missense_Mutation SNP C C T TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr19:20727601C>T ENST00000427401.4 - 4 1502 c.1408G>A c.(1408-1410)Gca>Aca p.A470T NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 470 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 CTCTTATGTGCAGTAAGGTGT 0.403000 3 49 0 0 1 0 0 PROSER2 254427 broad.mit.edu 37 10 11908732 11908732 + Missense_Mutation SNP C C T TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr10:11908732C>T ENST00000277570.5 + 3 495 c.341C>T c.(340-342)gCa>gTa p.A114V PROSER2_ENST00000474155.1_3'UTR|PROSER2-AS1_ENST00000445498.1_RNA|PROSER2-AS1_ENST00000453242.1_RNA NM_153256.3 NP_694988.3 proline and serine-rich protein 2 GTGCAGCCAGCACCTGGCGCC 0.642000 3 83 0 0 1 0 0 GIMAP2 26157 broad.mit.edu 37 7 150389724 150389724 + Missense_Mutation SNP G G A TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr7:150389724G>A ENST00000223293.5 + 3 444 c.350G>A c.(349-351)cGc>cAc p.R117H NM_015660.2 NP_056475.1 Q9UG22 GIMA2_HUMAN GTPase, IMAP family member 2 117 integral to membrane GTP binding kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CAGCTGGGCCGCTATACCTCA 0.552000 3 56 0 0 1 0 0 ADAM21P1 0 broad.mit.edu 37 14 70714259 70714259 + RNA SNP A A G rs7144638 by1000genomes TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr14:70714259A>G ENST00000530196.1 - 0 259 NR_003951.1 CACCACTTCCAGGGAAGTGAA 0.527000 3 131 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37431050 37431050 + Missense_Mutation SNP G G C TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr10:37431050G>C ENST00000374660.1 + 7 1156 c.1057G>C c.(1057-1059)Gca>Cca p.A353P ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A353P|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A353P Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 409 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.A353P(1) NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 ATTTACGTGGGCAGCAAAAGG 0.408000 3 103 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228467094 228467094 + Missense_Mutation SNP G G A TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr1:228467094G>A ENST00000570156.2 + 32 8706 c.8632G>A c.(8632-8634)Gtg>Atg p.V2878M OBSCN_ENST00000359599.6_Missense_Mutation_p.V1296M|OBSCN_ENST00000422127.1_Missense_Mutation_p.V2449M|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.V2449M NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1878 Ig-like 28. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GACCGGGCCCGTGCACTTCAC 0.697000 3 102 0 0 1 0 0 CNOT7 29883 broad.mit.edu 37 8 17092255 17092255 + Missense_Mutation SNP C C G TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr8:17092255C>G ENST00000361272.4 - 5 886 c.588G>C c.(586-588)aaG>aaC p.K196N CNOT7_ENST00000523917.1_Missense_Mutation_p.K196N NM_013354.5 NP_037486.2 Q9UIV1 CNOT7_HUMAN CCR4-NOT transcription complex, subunit 7 196 carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6) 11 Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209) TCATGAGGTACTTCACATCAT 0.413000 39 100 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A A T rs113059833 by1000genomes TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr17:39261693A>T ENST00000391415.1 + 1 110 c.53A>T c.(52-54)gAc>gTc p.D18V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 keratin filament p.D18V(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCGGCCAAGACCTCTGTCAG 0.627000 6 80 0 0 1 0 0 MAGEB4 4115 broad.mit.edu 37 X 30261042 30261042 + Missense_Mutation SNP G G A rs148704670 TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chrX:30261042G>A ENST00000378982.2 + 1 986 c.790G>A c.(790-792)Gat>Aat p.D264N NM_002367.3 NP_002358.1 O15481 MAGB4_HUMAN melanoma antigen family B, 4 264 MAGE. breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 GCCCAACAGTGATCCCCCACG 0.502000 3 70 0 0 1 0 0 ADRA1A 148 broad.mit.edu 37 8 26722176 26722176 + Missense_Mutation SNP G G A TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr8:26722176G>A ENST00000380573.3 - 2 1334 c.311C>T c.(310-312)gCa>gTa p.A104V ADRA1A_ENST00000354550.4_Missense_Mutation_p.A104V|ADRA1A_ENST00000380586.1_Missense_Mutation_p.A104V|ADRA1A_ENST00000380587.1_Missense_Mutation_p.A104V|ADRA1A_ENST00000380581.2_Missense_Mutation_p.A104V|ADRA1A_ENST00000380582.3_Missense_Mutation_p.A104V|ADRA1A_ENST00000519229.1_Missense_Mutation_p.A104V|ADRA1A_ENST00000380572.3_Missense_Mutation_p.A104V|ADRA1A_ENST00000358857.5_Missense_Mutation_p.A104V|ADRA1A_ENST00000276393.4_Missense_Mutation_p.A104V P35348 ADA1A_HUMAN adrenoceptor alpha 1A 104 activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1) 36 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) CACATCCACTGCCGCCCAGAT 0.632000 46 86 0 0 1 0 0 SETD5 55209 broad.mit.edu 37 3 9512205 9512205 + Missense_Mutation SNP C C G TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr3:9512205C>G ENST00000402466.1 + 20 3261 c.2493C>G c.(2491-2493)agC>agG p.S831R SETD5_ENST00000406341.1_Missense_Mutation_p.S929R|SETD5_ENST00000402198.1_Missense_Mutation_p.S929R|SETD5_ENST00000302463.6_Missense_Mutation_p.S831R|SETD5_ENST00000407969.1_Missense_Mutation_p.S948R Q9C0A6 SETD5_HUMAN SET domain containing 5 929 NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) ACACTAACAGCTGTGCTGATA 0.493000 8 293 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128671 45128671 + RNA SNP T T G rs1056072 by1000genomes TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr17:45128671T>G ENST00000575173.1 - 0 418 GCTCACAAAATAAGTTCCAGG 0.323000 3 110 0 0 1 0 0 SUPT6H 6830 broad.mit.edu 37 17 27024968 27024968 + Silent SNP C C T TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr17:27024968C>T ENST00000314616.6 + 32 4651 c.4368C>T c.(4366-4368)acC>acT p.T1456T SUPT6H_ENST00000347486.4_Silent_p.T1456T NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 1456 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) AGAAGCCCACCTTCATCCCTT 0.522000 27 60 0 0 1 0 0 CDCP1 64866 broad.mit.edu 37 3 45153738 45153738 + Silent SNP G G A TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr3:45153738G>A ENST00000296129.1 - 3 626 c.492C>T c.(490-492)agC>agT p.S164S CDCP1_ENST00000425231.2_Silent_p.S164S NM_022842.3 NP_073753.3 Q9H5V8 CDCP1_HUMAN CUB domain containing protein 1 164 extracellular region|integral to membrane|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) CGATTCGGCCGCTGATGGAGT 0.562000 5 249 0 0 1 0 0 SYK 6850 broad.mit.edu 37 9 93629413 93629413 + Splice_Site SNP A A G TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr9:93629413A>G ENST00000375754.4 + 7 995 c.846_splice c.e7-1 p.T283_splice SYK_ENST00000375747.1_Intron|SYK_ENST00000375751.4_Intron|SYK_ENST00000375746.1_Splice_Site_p.T283_splice NM_003177.5 NP_003168.2 P43405 KSYK_HUMAN spleen tyrosine kinase 283 Linker. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly cytosol|T cell receptor complex ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 TGGTTTCTAGACTTGGTCAGC 0.438000 T """ETV6, ITK""" """MDS, peripheral T-cell lymphoma""" 6 123 0 0 1 0 0 AMD1 262 broad.mit.edu 37 6 111210065 111210065 + Missense_Mutation SNP G G T TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr6:111210065G>T ENST00000368885.3 + 3 539 c.203G>T c.(202-204)aGt>aTt p.S68I AMD1_ENST00000368882.3_Intron|AMD1_ENST00000368876.1_5'UTR|AMD1_ENST00000368877.5_Missense_Mutation_p.S39I|AMD1_ENST00000451850.2_Intron NM_001634.4 NP_001625.2 P17707 DCAM_HUMAN adenosylmethionine decarboxylase 1 68 Cleavage (non-hydrolytic); by autolysis. spermidine biosynthetic process|spermine biosynthetic process cytosol adenosylmethionine decarboxylase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2) 8 all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143) S-Adenosylmethionine(DB00118) TGCAGTGAGAGTAGCATGTTT 0.383000 3 128 0.115264 0.115264 1 1 0 SKA3 221150 broad.mit.edu 37 13 21729267 21729267 + Missense_Mutation SNP G G A rs11147977 by1000genomes TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr13:21729267G>A ENST00000400018.3 - 8 1211 c.1142C>T c.(1141-1143)aCa>aTa p.T381I SKA3_ENST00000314759.5_3'UTR NM_001166017.1 NP_001159489.1 Q8IX90 SKA3_HUMAN spindle and kinetochore associated complex subunit 3 0 cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization condensed chromosome outer kinetochore|cytoplasm|spindle microtubule protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 CAGTTTCTGTGTTGGATAGAT 0.363000 7 40 0 0 1 0 0 FAM194A 131831 broad.mit.edu 37 3 150421519 150421519 + Missense_Mutation SNP A A T TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr3:150421519A>T ENST00000295910.6 - 1 219 c.167T>A c.(166-168)gTg>gAg p.V56E FAM194A_ENST00000491361.1_Intron|RP11-103G8.2_ENST00000471093.1_RNA NM_152394.3 NP_689607.2 Q7L0X2 F194A_HUMAN family with sequence similarity 194, member A 56 Glu-rich. p.V56E(1) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 ctcctcctccaccacctcctc 0.607000 3 17 0 0 1 0 0 SLC26A11 284129 broad.mit.edu 37 17 78201660 78201660 + Missense_Mutation SNP C C G TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr17:78201660C>G ENST00000361193.3 + 7 917 c.637C>G c.(637-639)Ctg>Gtg p.L213V SLC26A11_ENST00000572725.1_Missense_Mutation_p.L213V|SLC26A11_ENST00000411502.3_Missense_Mutation_p.L213V|SLC26A11_ENST00000546047.2_Missense_Mutation_p.L213V NM_001166347.1|NM_173626.3 NP_001159819.1|NP_775897.3 Q86WA9 S2611_HUMAN solute carrier family 26 (anion exchanger), member 11 213 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 28 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) GCTGCTGCTGCTGGTGCTGAA 0.682000 3 237 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144940551 144940551 + Missense_Mutation SNP C C A TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr8:144940551C>A ENST00000525985.1 - 2 6942 c.6871G>T c.(6871-6873)Gtg>Ttg p.V2291L P58107 EPIPL_HUMAN epiplakin 1 2291 cytoplasm|cytoskeleton protein binding|structural molecule activity p.V2291M(1) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCGCCCACCACGCCCGCGGCC 0.721000 11 170 0.000151284 0.000153302 1 1 0 NPIPB11 728888 broad.mit.edu 37 16 29415043 29415043 + Silent SNP G G A TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr16:29415043G>A ENST00000524087.1 - 2 155 c.81C>T c.(79-81)caC>caT p.H27H SNX29P2_ENST00000398878.3_lincRNA nuclear pore complex interacting protein family, member B11 p.H27H(24) CTGACTTTACGTGCTGCTGCA 0.577000 4 29 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 4 85 0 0 1 0 0 GMPS 8833 broad.mit.edu 37 3 155628609 155628609 + Missense_Mutation SNP G G A TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr3:155628609G>A ENST00000496455.1 + 6 990 c.655G>A c.(655-657)Gtg>Atg p.V219M GMPS_ENST00000295920.7_Missense_Mutation_p.V120M NM_003875.2 NP_003866.1 P49915 GUAA_HUMAN guanine monphosphate synthase 219 glutamine metabolic process|purine base biosynthetic process cytosol ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) AACCTTCACCGTGCAGAACAG 0.393000 T MLL AML 3 124 0 0 1 0 0 GRIN2D 2906 broad.mit.edu 37 19 48917682 48917682 + Missense_Mutation SNP G G C TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr19:48917682G>C ENST00000263269.3 + 5 1341 c.1253G>C c.(1252-1254)cGc>cCc p.R418P NM_000836.2 NP_000827.2 O15399 NMDE4_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2D 418 cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1) 37 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) CTGTGGTCCCGCTATGGTCGC 0.627000 6 19 0 0 1 0 0 PITPNM1 9600 broad.mit.edu 37 11 67267884 67267884 + Missense_Mutation SNP G G C TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr11:67267884G>C ENST00000356404.3 - 6 874 c.649C>G c.(649-651)Cgg>Ggg p.R217G PITPNM1_ENST00000436757.2_Missense_Mutation_p.R217G|PITPNM1_ENST00000534749.1_Missense_Mutation_p.R217G NM_001130848.1|NM_004910.2 NP_001124320.1|NP_004901.2 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, membrane-associated 1 217 brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 AGCATCACCCGACGCAGACCT 0.657000 65 112 0 0 1 0 0 LINC00521 0 broad.mit.edu 37 14 94464552 94464552 + RNA SNP G G A TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr14:94464552G>A ENST00000444118.1 + 0 232 NR_024182.1 TTCAAGGGCTGTGGCAGGAAC 0.602000 3 92 0 0 1 0 0 GPR83 10888 broad.mit.edu 37 11 94113644 94113644 + Silent SNP G G A TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr11:94113644G>A ENST00000243673.2 - 4 1114 c.943C>T c.(943-945)Ctg>Ttg p.L315L GPR83_ENST00000539203.2_Silent_p.L273L NM_016540.3 NP_057624.3 Q9NYM4 GPR83_HUMAN G protein-coupled receptor 83 315 integral to membrane|plasma membrane neuropeptide Y receptor activity NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TTGCTGGACAGGAGGAGGACG 0.537000 3 169 0 0 1 0 0 NGEF 25791 broad.mit.edu 37 2 233791787 233791787 + Missense_Mutation SNP C C T TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr2:233791787C>T ENST00000264051.3 - 4 771 c.493G>A c.(493-495)Gcc>Acc p.A165T NGEF_ENST00000373552.4_Missense_Mutation_p.A73T|NGEF_ENST00000409079.1_Missense_Mutation_p.A73T NM_019850.2 NP_062824.2 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 165 Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity). apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) CAGGAGTCGGCGGGAATGGGG 0.642000 3 101 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e 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 35 72 0 0 1 0 0 ZFP36 7538 broad.mit.edu 37 19 39897531 39897531 + Missense_Mutation SNP C C T TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr19:39897531C>T ENST00000597629.1 + 1 79 c.5C>T c.(4-6)gCc>gTc p.A2V ZFP36_ENST00000594045.1_Missense_Mutation_p.A2V|ZFP36_ENST00000248673.3_5'UTR P26651 TTP_HUMAN ZFP36 ring finger protein 0 positive regulation of nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleus AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding large_intestine(1)|lung(5)|pancreas(1) 7 all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) CCCCTCATGGCCAACCGTTAC 0.642000 20 59 0 0 1 0 0 METRN 79006 broad.mit.edu 37 16 767142 767142 + Missense_Mutation SNP G G A TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr16:767142G>A ENST00000568223.2 + 4 812 c.637G>A c.(637-639)Gcc>Acc p.A213T METRN_ENST00000568415.1_Missense_Mutation_p.A80T NM_024042.2 NP_076947.1 Q9UJH8 METRN_HUMAN meteorin, glial cell differentiation regulator 213 skin(1) 1 Hepatocellular(780;0.00335) TGTGGTGGCCGCCCGTGTCCT 0.662000 3 33 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 58 0 0 1 0 0 WDR33 55339 broad.mit.edu 37 2 128466403 128466403 + Missense_Mutation SNP G G C TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr2:128466403G>C ENST00000322313.4 - 21 3787 c.3629C>G c.(3628-3630)tCc>tGc p.S1210C NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 1210 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) GCTGGCTGGGGAATGACCGTC 0.557000 28 56 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175046794 175046794 + Silent SNP G G A TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr1:175046794G>A ENST00000239462.4 + 2 353 c.240G>A c.(238-240)gaG>gaA p.E80E NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 80 cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) AGGCCAGGGAGGAACAGAACA 0.607000 3 72 0 0 1 0 0 CHRM3 1131 broad.mit.edu 37 1 240072444 240072444 + Frame_Shift_Del DEL A A - TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr1:240072444delA ENST00000255380.4 + 5 2472 c.1693delA c.(1693-1695)aafs p.K567fs NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 567 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity p.R568fs*>24(1)|p.K567fs*>24(1) breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) CCAGTGTGACAAAAAAAAGAG 0.502 7 136 --- --- --- --- DLEC1 9940 broad.mit.edu 37 3 38162039 38162040 + Frame_Shift_Del DEL GA GA - TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr3:38162039_38162040delGA ENST00000308059.6 + 34 4826_4827 c.4805_4806delGA c.(4804-4806)gfs p.G1602fs DLEC1_ENST00000452631.2_Frame_Shift_Del_p.G1605fs|DLEC1_ENST00000346219.3_Frame_Shift_Del_p.G1602fs Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 1602 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) AGTGCGAGTGGAGAGAGAGAGA 0.579 7 179 --- --- --- --- DOCK4 9732 broad.mit.edu 37 7 111474657 111474657 + Frame_Shift_Del DEL T T - TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr7:111474657delT ENST00000428084.1 - 26 3094 c.2822delA c.(2821-2823)agfs p.K941fs DOCK4_ENST00000437633.1_Frame_Shift_Del_p.K941fs Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 941 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) TAGTTCTTCCTTTGTATTAAA 0.313 2 4 --- --- --- --- TP53INP1 0 broad.mit.edu 37 8 95952409 95952411 + In_Frame_Del DEL TCT TCT - TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr8:95952409_95952411delTCT ENST00000342697.4 - 3 557_559 c.150_152delAGA c.(148-153)gag>ga p.EE50del TP53INP1_ENST00000378776.4_In_Frame_Del_p.EE50del|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_In_Frame_Del_p.EE50del NM_033285.3 NP_150601.1 Q96A56 T53I1_HUMAN tumor protein p53 inducible nuclear protein 1 50 Glu-rich. apoptosis PML body p.E50E(1) kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 9 Breast(36;8.75e-07) GATGTCCTCCTCTTCTTCTTCTT 0.458 7 82 --- --- --- --- DDX24 57062 broad.mit.edu 37 14 94545821 94545823 + In_Frame_Del DEL CCT CCT - TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr14:94545821_94545823delCCT ENST00000330836.5 - 2 397_399 c.266_268delAGG c.(265-270)gga>g p.EG89del DDX24_ENST00000555054.1_In_Frame_Del_p.EG46del|DDX24_ENST00000544005.1_Intron NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 89 Poly-Glu. RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) CTAGACTTTCCCTCCTCCTCCTC 0.443 7 146 --- --- --- --- AFG3L1P 0 broad.mit.edu 37 16 90053797 90053797 + RNA DEL G G - TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr16:90053797delG ENST00000437774.1 + 0 731 NR_003226.1 aggtggaggaggtggaggagg 0.647 2 4 --- --- --- --- RP11-640N20.9 0 broad.mit.edu 37 17 30439328 30439328 + RNA DEL C C - TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr17:30439328delC ENST00000580412.1 - 0 43 AATTCTGTTTCAATAACAGTC 0.403 33 79 --- --- --- --- CTCFL 140690 broad.mit.edu 37 20 56099187 56099187 + Frame_Shift_Del DEL T T - TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr20:56099187delT ENST00000426658.2 - 1 736 c.75delA c.(73-75)aafs p.K25fs CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 25 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) CCTTCAGGCCTTTTTCCGGCA 0.502 7 579 --- --- --- --- MX2 4600 broad.mit.edu 37 21 42748992 42748992 + Frame_Shift_Del DEL G G - TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr21:42748992delG ENST00000330714.3 + 2 343 c.159delG c.(157-159)gafs p.E53fs MX2_ENST00000543692.1_Frame_Shift_Del_p.E53fs NM_002463.1 NP_002454.1 P20592 MX2_HUMAN myxovirus (influenza virus) resistance 2 (mouse) 53 response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 34 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) AGGGGGCAGAGAAGGACGCTG 0.512 85 157 --- --- --- ---